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Arnold-Chiari malformation is a congenital malformation of the skull near the foramen magnum in which the cerebellum and the medulla are caudally displaced. This herniation of the brainstem causes down-beat nystagmus and oscillopsia, the most commonly presenting sign and symptom, respectively. Differential diagnoses for the Arnold-Chiari malformation include, but are not limited to, demyelinating disease, tumor, and vascular disorders. Symptoms will generally worsen with time and may even be brought on during exercise or valsalva maneuvers. A correct diagnosis can lead to timely surgical intervention which can improve the quality of eye movements. Treatment generally involves the surgical decompression of the surrounding spinal tissue. PMID:1565422
Russell, G E; Wick, B; Tang, R A
Sleep apnea and the Arnold-Chiari malformation.
We present a polysomnogram-documented report of central sleep apnea (427 events) and moderately severe decreases in arterial oxygen saturation (to 81%) associated with the Arnold-Chiari malformation (ACM). Daytime hypersomnolence and other symptoms had significantly impaired our patient's work performance. After surgical correction of the ACM, there was marked improvement in symptomatology. A post-surgery polysomnogram revealed marked improvement in the number of central apneas (74 events) and only mild decreases in oxygen saturation (to 94%). PMID:4051328
Balk, R A; Hiller, F C; Lucas, E A; Scrima, L; Wilson, F J; Wooten, V
Arnold-Chiari II malformation: intraoperative real-time US.
Nineteen cases in which high-resolution, intraoperative, real-time sonography was performed during decompression of an Arnold-Chiari II malformation were reviewed. The variations of the often complicated hindbrain anatomic features, well known from autopsy series, were shown in detail with intraoperative sonography. The extent of herniation of the cerebellar vermis, the medulla, and the fourth ventricle into the cervical spinal canal, as well as fourth ventricular dilatation, arachnoid cysts, and cervical hydromyelia, were also demonstrated sonographically. Real-time imaging was useful in guiding the neurosurgeon in decompression of the hindbrain, especially the fourth ventricle, in an anatomic area often obscured visually by intense fibrovascular adhesions. PMID:3303122
DiPietro, M A; Venes, J L; Rubin, J M
Craniocervical growth collision: another explanation of the Arnold-Chiari malformation and of basilar impression
Analysis of neuro-cranio-spinal development suggests a cranio-cervical growth conflict as the cause of the Arnold-Chiari malformation and of basilar impression. The ascending course and elongation of the upper cervical nerves associated with the Arnold-Chiari malformation reflects the abnormal, caudo-cranially proceeding growth of the cervical spine. This is the opposite of the normal cranio-caudal direction of growth (which includes the brain)
M. Roth
Arnold Chiari I Malformation with Tip-Toe Gait: A Case Report
The Arnold-Chiari type I malformation has many symptoms such as headache, neck pain, gait impairment, abnormal movements or postures. But a few cases reported association of specific symptom including headache, neck pain, vertigo or ataxia. We report a case of 12 year-old boy presenting with tip-toe gait. Magnetic resonance imaging (MRI) study of brain and spine revealed underlying Arnold-Chiari type I malformation. This case shows that it is need for central nervous system evaluation in patients with changes of lower extremities tone.
Hwang, Gi Hoon; Kim, Ghi Chan; Jeong, Ho Joong; Park, Yong Seok
Arnold Chiari I malformation with tip-toe gait: a case report.
The Arnold-Chiari type I malformation has many symptoms such as headache, neck pain, gait impairment, abnormal movements or postures. But a few cases reported association of specific symptom including headache, neck pain, vertigo or ataxia. We report a case of 12 year-old boy presenting with tip-toe gait. Magnetic resonance imaging (MRI) study of brain and spine revealed underlying Arnold-Chiari type I malformation. This case shows that it is need for central nervous system evaluation in patients with changes of lower extremities tone. PMID:24757457
Hwang, Gi Hoon; Kim, Ghi Chan; Jeong, Ho Joong; Sim, Young-Joo; Park, Yong Seok
Morphogenesis of experimentally induced Arnold--Chiari malformation.
The administration of a single dose of vitamin A to pregnant hamsters, early during the morning of their 8th day of gestation, induces types I and II Arnold--Chiari malformation (ACM), as well as various types of axial skeletal-dysraphic disorders known to be associated with the human disease. This new model provides a means of carrying comparative studies between the axial skeletal defects and neurological anomalies of this complex developmental malformation with those which characterize the other induced disorders related to it. Study of this experimental model has demonstrated that the basichondrocranium of fetuses with ACM is shorter than normal and slightly elevated (lordotic) in relation to the axis of the vertebral column. The shortness of the basichondrocranium of these fetuses is caused by the underdevelopment of the occipital bone specially noticeable in its basal component (basioccipital). This basic defect has resulted in a short and small posterior cerebral fossa which is inadequate to contain the developing nervous structures of that region. The developing cerebellum is displaced downward to an anomalous position just above the foramen magnum; and, the developing medulla is compressed or crowded into the small posterior cerebral fossa of affected fetuses. The lordotic elevation of the basichondrocranium is also responsible for the reduction of the pontine flexure and the increased angle of the cervical flexure of the hindbrain found in these fetuses. All of these neurological anomalies, which are characteristic and diagnostic of clinical ACm as well, are considered here to be secondary to the axial skeletal defects rather than primary abnormalities, as is generally believed. The peculiar type of protrusion of the odontoid process into the cranial cavity found in fetuses with ACM, as well as in those with cranioschisis aperta and occulta, is also considered to be caused by the slight depression of the underdeveloped basioccipital and therefore, comparable to the so-called basilar impression often described in clinical ACM. This study has emphasized various developmental features which are closely related with the morphogenesis of ACM, including: the somitic origin of the occipital bone, and the late growth of the cerebellum which is predominantly postnatal in almost all experimental animals. It has been pointed out that some developmental defects involving the occipital bone and the caudal vertebral column, such as those which characterize ACM type II, may be more closely related than previously recognized. It has been also pointed out that the so-called cerebellar herniation into the cervical spinal canal described in the human disease represents a late addition to this disorder which is related to the relatively late growth of the cerebellum... PMID:7229658
Marin-Padilla, M; Marin-Padilla, T M
[Acute respiratory failure as the sol inaugural sign of Arnold-Chiari malformation. Two cases].
Arnold-Chiari malformation is an occipitocervical malformation where the cerebellar amygdales descend below the occipital foramen. Acute respiratory failure is an exceptional inaugural sign. We report two cases disclosed by alveolar hypoventilation associated with type I Arnold-Chiari malformation. The two patients age 51 and 52 years had an uneventful past history and presented with hypercapnic encephalopathy with acute respiratory failure requiring ventilatory assistance. Respiratory function tests, helicoidal thoracic computed tomographic angiography, electromyogram, cardiac echography, and thyroid and immunological tests were normal. Blood gases and polysomnography were in favor of central hypoventilation without sleep apnea. Magnetic resonance imaging demonstrated type I Arnold-Chiari malformation. The course was complicated by recurrent respiratory failure in both patients. Surgical decompression performed for the first patient provided no improvement. This patient died two months after surgery subsequent to aspiration pneumonia. The second patient was treated with continuous positive pressure noninvasive ventilatory assistance and had a good outcome at 25 months. These two cases illustrate the absence of any neurological sign, acute respiratory failure being the only sign of Arnold-Chiari malformation. PMID:18166935
Chaouch, N; Mera�, S; Cheikh Rouhou, S; Ben Romdhane, K; Ben Mrad, S; Besbes, M; Tritar, F
Arnold Chiari type 1 malformation presenting with sleep disordered breathing in well children
Healthy children, aged 3, 9, and 13 years referred with sleep disordered breathing had marked central apnoea and bradypnoea on polysomnography, necessitating the use of non?invasive bilevel ventilation in two cases. Each had normal neurological examinations and an Arnold Chiari type 1 malformation was confirmed on magnetic resonance imaging. All underwent urgent posterior fossa decompression which normalised their sleep breathing.
Murray, C; Seton, C; Prelog, K; Fitzgerald, D A
The Arnold-Chiari Malformation and Its Implications for Individuals with Spina Bifida and Hydrocephalus.
ERIC Educational Resources Information Center
The Arnold-Chiari malformation is present in most infants born with myelomeningocele (a form of spina bifida) and hydrocephalus. The syndrome is responsible for structural abnormalities in the brain, and peripheral nervous system. Etiology, symptoms, impact on central nervous system structures, surgical treatment, and implications for education�
Mittler, Joel E.
Primary Cerebellar Tuberculoma in Arnold-Chiari Malformation Mimicking Posterior Cranial Fossa Tumor: The First Report
Chiari malformations are a congenital heterogeneous group of disorders characterized by anatomic anomalies of the cerebellum, brain stem, and craniocervical junction associated with downward displacement of the cerebellum, alone or with lower medulla, into the cervical spine canal. The patient was a 23-year-old woman, a known case of Arnold-Chiari malformation with peripheral neuropathy and muscular atrophy, who presented with headache, drowsiness, decreased vision, and severe gait dysfunction lasting for several years. Brain magnetic resonance imaging confirmed a hypointense signal mass in the left hemisphere of the cerebellum causing mass effects on the fourth ventricle, which shifted it, accompanied with dilation of third and lateral ventricles.
Nabiuni, Mohsen; Sarvarian, Saeedeh
Transitional forms of Arnold-Chiari and Dandy-Walker malformations.
The morphological findings in 12 cases of Arnold-Chiari and 3 cases of Dandy-Walker malformations are described and compared to those in 2 cases of congenital hydrocephalus of unknown origin, 1 case of isolated meningo-myelocele and 2 cases of normal newborn brains. Lesions common to both types of malformation indicate a same time-related embryogenetic defect of the roofplate of the rhombencephalon, that does not allow the inferior vermis and the choroid plexus to turn inward into the fourth ventricle. PMID:51918
De Reuck, J; vander Eecken, H
Arnold-Chiari 1 malformation type 1 with syringohydromyelia presenting as acute tetraparesis: A case report
Context A 19-year-old woman who presented to a community hospital after awakening with tetraparesis, generalized paresthesia, and severe neck pain, and was transferred to an acute care hospital. Findings Magnetic resonance imaging of the head and spine was performed and revealed a cystic lesion extending from the C1 level to the C6 level as well as an Arnold-Chiari type 1 malformation. Emergent surgical posterior fossa decompression with duraplasty and C1 laminectomy was undertaken. Most symptoms improved immediately postoperatively. On post-operative day 15, the patient was transferred to our acute rehabilitation hospital for an additional 16 days. With continued aggressive therapy, she demonstrated complete resolution of tetraparesis as well as significant improvement in muscle strength and function in addition to resolution of paresthesia and neck pain. Functional independence measure scores were 69/126 on admission to 110/126 on discharge from the rehabilitation hospital. Her tetraparesis eventually resolved; manual muscle testing scores on follow-up 2 months later were 5/5 in all four extremities. Clinical relevance This is the first reported case of Chiari I malformation with syringohydromyelia presenting as acute tetraparesis, generalized paresthesia, and neck pain. Surgical decompression leading to resolution of symptoms made other etiologies extremely unlikely and there was no history of trauma. The different theories on the pathogenesis of syringomyelia are discussed.
Schneider, Byron; Birthi, Pravardhan; Salles, Sara
Anesthesia for a patient of acromesomelic dysplasia with associated hydrocephalus, Arnold Chiari malformation and syringomyelia.
Acromesomelic dysplasias are autosomal recessive osteochondrodysplasias. Acromesomelic dysplasia Maroteaux-type (AMDM), also known as St Helena dysplasia, is of two types: The classical and the mild variety. About 50 cases of AMDM have been reported till date, most of them being the classical variety. There is scarcity of literature on anesthesia for such patients. We are reporting a case of general anesthetic management of AMDM, associated with hydrocephalus, Arnold Chiari malformation type-1 and syringomyelia. The patient was a 10-year-old short-statured boy who presented with symptomatic thoracic kyphoscoliosis, gibbus deformity and back pain. On examination, there was no neurological deficit. Radiology revealed thoracic kyphoscoliosis, mild ventriculomegaly and upper cervical syringomyelia. The patient underwent posterior fossa decompression in the prone position under general anesthesia. We will discuss the anesthetic considerations for such patients and review the pertinent literature. PMID:24249999
Haldar, Rudrashish; Gyanesh, Prakhar; Samanta, Sukhen
Arnold-Chiari malformation type 1 complicated by sudden onset anterior spinal artery thrombosis, tetraparesis and respiratory arrest
Chiari in 1891 described a constellation of anomalies at the base of the brain inherited congenitally, the characteristic of which are (1) extension of a tongue of cerebellar tissue posterior to the medulla and cord that extends into the cervical spinal canal; (2) caudal displacement of the medulla and the inferior part of the fourth ventricle into the cervical canal; and (3) a frequent but not invariable association with syringomyelia or a spinal developmental abnormality. Chiari recognized four types of abnormalities. Presently, the term has come to be restricted to Chiari�s types I and II, that is, to cerebellomedullary descent without and with a meningomyelocele, respectively. The association of Arnold�Chairi malformation and high cervical cord infarction is unusual. The most common syndrome, anterior spinal artery syndrome (ASAS), is caused by interruption of blood flow to the anterior spinal artery, producing ischaemia in the anterior two-thirds of the cord, with resulting neurologic deficits. Causes of ASAS include aortic disease, postsurgical, sepsis, hypotension and thromboembolic disorders. The authors present an interesting case of cervical cord infarction due to anterior spinal artery thrombosis in a patient of type 1 Arnold�Chiari malformation without any of the above predisposing factors.
Wani, Abdul Majid; Zayyani, Najah R; Al Miamini, Wail; Khoujah, Amer M; Alharbi, Zeyad; Diari, Mohd S
Arnold-Chiari Malformation Type III With Meningoencephalocele: A Case Report
Arnold-Chiari malformation type III (CM III) is an extremely rare anomaly with poor prognosis. An encephalocele with brain anomalies as seen in CM II, and herniation of posterior fossa contents like the cerebellum are found in CM III. The female infant was a twin, born at 33 weeks, weighing 1.7 kg with a huge hydrocele on the craniocervical junction. After operations were performed, she was referred to the department of rehabilitation medicine for poor motor development, swallowing dysfunction, and poor eye fixation at 22 months. The child was managed with neurodevelopmental treatment, oromotor facilitation, and light perception training. After 14 months, improvement of gross motor function was observed, including more stable head control, rolling, and improvement of visual perception. CM III has been known as a condition with poor prognosis. However, with the improvement in operative techniques and intensive rehabilitations, the prognosis is more promising than ever before. Therefore, more attention must be paid to the rehabilitation issues concerning patients with CM III.
Jeong, Dae Ho; Kim, Chang Hwan; Kim, Myeong Ok; Chung, Hyung; Kim, Tae Hyun
Viewing condition dependence of the gaze-evoked nystagmus in Arnold Chiari type 1 malformation.
Saccadic eye movements rapidly shift gaze to the target of interest. Once the eyes reach a given target, the brainstem ocular motor integrator utilizes feedback from various sources to assure steady gaze. One of such sources is cerebellum whose lesion can impair neural integration leading to gaze-evoked nystagmus. The gaze evoked nystagmus is characterized by drifts moving the eyes away from the target and a null position where the drifts are absent. The extent of impairment in the neural integration for two opposite eccentricities might determine the location of the null position. Eye in the orbit position might also determine the location of the null. We report this phenomenon in a patient with Arnold Chiari type 1 malformation who had intermittent esotropia and horizontal gaze-evoked nystagmus with a shift in the null position. During binocular viewing, the null was shifted to the right. During monocular viewing, when the eye under cover drifted nasally (secondary to the esotropia), the null of the gaze-evoked nystagmus reorganized toward the center. We speculate that the output of the neural integrator is altered from the bilateral conflicting eye in the orbit position secondary to the strabismus. This could possibly explain the reorganization of the location of the null position. PMID:24559612
Ghasia, Fatema F; Gulati, Deepak; Westbrook, Edward L; Shaikh, Aasef G
Arnold-Chiari Malformation Type III With Meningoencephalocele: A Case Report.
Arnold-Chiari malformation type III (CM III) is an extremely rare anomaly with poor prognosis. An encephalocele with brain anomalies as seen in CM II, and herniation of posterior fossa contents like the cerebellum are found in CM III. The female infant was a twin, born at 33 weeks, weighing 1.7 kg with a huge hydrocele on the craniocervical junction. After operations were performed, she was referred to the department of rehabilitation medicine for poor motor development, swallowing dysfunction, and poor eye fixation at 22 months. The child was managed with neurodevelopmental treatment, oromotor facilitation, and light perception training. After 14 months, improvement of gross motor function was observed, including more stable head control, rolling, and improvement of visual perception. CM III has been known as a condition with poor prognosis. However, with the improvement in operative techniques and intensive rehabilitations, the prognosis is more promising than ever before. Therefore, more attention must be paid to the rehabilitation issues concerning patients with CM III. PMID:25024966
Jeong, Dae Ho; Kim, Chang Hwan; Kim, Myeong Ok; Chung, Hyung; Kim, Tae Hyun; Jung, Han Young
Combined Spinal-Epidural Analgesia for Laboring Parturient with Arnold-Chiari Type I Malformation: A Case Report and a Review of the Literature
Anesthetic management of laboring parturients with Arnold-Chiari type I malformation poses a difficult challenge for the anesthesiologist. The increase in intracranial pressure during uterine contractions, coughing, valsalva maneuvers, and expulsion of the fetus can be detrimental to the mother during the process of labor and delivery. No concrete evidence has implicated high cerebral spinal fluid pressure on maternal and fetal complications. The literature on the use of neuraxial techniques for managing parturients with Arnold-Chiari is extremely scarce. While most anesthesiologists advocate epidural analgesia for management of labor pain and spinal anesthesia for cesarean section, we are the first to report the use of combined spinal-epidural analgesia for managing labor pain in a pregnant woman with Arnold-Chiari type I malformation. Also, we have reviewed the literature and presented information from case reports and case series to support the safe usage of neuraxial techniques in these patients.
Choi, Clark K.; Tyagaraj, Kalpana
Type I Arnold-Chiari malformation with bronchiectasis, respiratory failure, and sleep disordered breathing: a case report.
Arnold Chiari Malformation (ACM) is defined as a condition where part of the cerebellar tissue herniates into the cervical canal toward the medulla and spinal cord resulting in a number of clinical manifestations. Type I ACM consists of variable displacement of the medulla throughout the formamen magnum into the cervical canal, with prominent cerebellar herniation.Type I ACM is characterized by symptoms related to the compression of craniovertebral junction, including ataxia, dysphagia, nistagmus, headache, dizziness, and sleep disordered breathing. We report a case of a life-long non-smoker, 54 years old woman who presented these symptoms associated with bronchiectasis secondary to recurrent inhalation pneumonia, hypercapnic respiratory failure, and central sleep apnea (CSA).CSA was first unsuccessfully treated with nocturnal c-PAP. The subsequent treatment with low flow oxygen led to breathing pattern stabilization with resolution of CSA and related clinical symptoms during sleep. We suggest that in patients with type I ACM the presence of pulmonary manifestations aggravating other respiratory disturbances including sleep disordered breathing (SDB) should be actively investigated. The early diagnosis is desirable in order to avoid serious and/or poorly reversible damages. PMID:23433005
Campisi, Raffaele; Ciancio, Nicola; Bivona, Laura; Di Maria, Annalisa; Maria, Giuseppe Di
Anesthetic management during Cesarean section in a woman with residual Arnold-Chiari malformation Type I, cervical kyphosis, and syringomyelia
Background: Type I Arnold�Chiari malformation (ACM) has an adult onset and consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum. There is paucity of literature on the anesthetic management during pregnancy of residual ACM Type I, with cervical xyphosis and persistent syringomyelia. Case Description: A 34-year-old woman with surgically corrected ACM Type I presented for Cesarean delivery. A recent MRI demonstrated worsening of cervical xyphosis after several laminectomies and residual syringomyelia besides syringopleural shunt. Awake fiberoptic intubation was performed under generous topical anesthesia to minimize head and neck movement during endotracheal intubation. We used a multimodal general anesthesia without neuromuscular blockade. The neck was maintained in a neutral position. Following delivery, the patient completely recovered in post-anesthesia care unit (PACU), with no headache and no exacerbation or worsening of neurological function. Conclusions: The present case demonstrates that patients with partially corrected ACM, syringomyelia, cervical kyphosis, and difficult intubation undergoing Cesarean delivery require an interdisciplinary team approach, diligent preparation, and skilled physicians.
Ghaly, Ramsis F.; Candido, Kenneth D.; Sauer, Ruben; Knezevic, Nebojsa Nick
Type I Arnold-Chiari malformation with bronchiectasis, respiratory failure, and sleep disordered breathing: a case report
Arnold Chiari Malformation (ACM) is defined as a condition where part of the cerebellar tissue herniates into the cervical canal toward the medulla and spinal cord resulting in a number of clinical manifestations. Type I ACM consists of variable displacement of the medulla throughout the formamen magnum into the cervical canal, with prominent cerebellar herniation. Type I ACM is characterized by symptoms related to the compression of craniovertebral junction, including ataxia, dysphagia, nistagmus, headache, dizziness, and sleep disordered breathing. We report a case of a life-long non-smoker, 54 years old woman who presented these symptoms associated with bronchiectasis secondary to recurrent inhalation pneumonia, hypercapnic respiratory failure, and central sleep apnea (CSA). CSA was first unsuccessfully treated with nocturnal c-PAP. The subsequent treatment with low flow oxygen led to breathing pattern stabilization with resolution of CSA and related clinical symptoms during sleep. We suggest that in patients with type I ACM the presence of pulmonary manifestations aggravating other respiratory disturbances including sleep disordered breathing (SDB) should be actively investigated. The early diagnosis is desirable in order to avoid serious and/or poorly reversible damages.
Restoration of the efferent phase of the sneeze reflex after regression of an Arnold-Chiari malformation with compression of the medulla oblongata.
The precise location of the sneeze center in the human brain has not been definitively identified. The aim of this report is to contribute to the effort to detect its location. We report the case of a 13-year-old boy who presented to our outpatient clinic for evaluation of an inability to sneeze. In an attempt to trigger the afferent (nasal) phase of the sneeze reflex, we first applied a cotton swab and later a silver nitrate stick to the patient's nasal mucosa. Once that was accomplished, we observed that the patient could not complete the efferent (expiratory) phase of the sneeze reflex, and thus he did not sneeze. Cranial magnetic resonance imaging (MRI) revealed that his cerebellar tonsils extended approximately 10 mm inferiorly through the foramen magnum, which represented a type I Arnold-Chiari malformation. The tonsils were noted to have compressed the posterolateral portion of the medulla oblongata. At follow-up 21 months later, we noted that the patient was able to sneeze spontaneously as well as with nasal stimulation. Repeat MRI revealed that the Arnold-Chiari malformation had undergone a spontaneous partial regression, which resulted in relief of the compression of the medulla oblongata. We believe that the patient's earlier inability to sneeze might have been attributable to the compression of the medulla oblongata by the cerebellar tonsils and that the site of the compression might represent the location of his sneeze center. PMID:23354897
Songu, Murat; Can, Nazan; Gelal, Fazil
Reoperation for Chiari Malformations
Background: We undertook this study to characterize those patients who required reoperations for Chiari malformation and to determine whether modifications in surgical technique at the initial procedure might have obviated the need for repeat surgery. Methods: We reviewed the hospital records, imaging studies, operative reports, and follow-up data of those patients who were undergoing a second operation as part of
David Sacco; R. Michael Scott
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia
Background Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder (prevalence 1:125,000) characterised by broad thumbs and halluces, facial dysmorphism, psychomotor development delay, skeletal defects, abnormalities in the posterior fossa and short stature. The known genetic causes are point mutations or deletions of the cAMP-response element binding protein-BP (CREBBP) (50-60% of the cases) and of the homologous gene E1A-binding protein (EP300) (5%). Case presentation We describe, for the first time in literature, a RTS Caucasian girl, 14-year-old, with growth hormone (GH) deficiency, pituitary hypoplasia, Arnold Chiari malformation type 1, double syringomyelic cavity and a novel CREBBP mutation (c.3546insCC). Conclusion We hypothesize that CREBBP mutation we have identified in this patient could be responsible also for RTS atypical features as GH deficiency and pituitary hypoplasia.
Controversies in Chiari I malformations
Background: The diagnosis and management of Chiari I malformations (CMI) remains controversial, particularly since it is often an incidental finding on cervical MR scans performed for neck pain and/or headaches. Recently, some surgeons �over-operated� on asymptomatic patients with Chiari I malformations, or even on those without the requisite radiographic diagnostic features for Chiari I malformations: unfortunately, only a subset were admonished for indiscriminate surgery. Nevertheless, when this hindbrain malformation is truly symptomatic, contributing to impaired cerebrospinal fluid (CSF) circulation, various valid surgical management strategies may be adopted. Methods: This review focuses on the current literature regarding the clinical presentation, diagnosis, and surgical management of Chiari I malformation. Variations in the surgical technique are also presented and critiqued. Results: The recommended treatment for Chiari I malformations I consists of decompressive suboccipital craniectomy and duroplasty when abnormal cine-flow MRI is observed preoperatively and blockage of CSF flow persists intraoperatively despite bony decompression. Conclusions: Controversy continues regarding the optimal surgical technique to address Chiari malformations I. Proper diagnostic studies and patient selection are needed to optimize patient outcomes, while avoiding unnecessary surgical procedures.
Baisden, Jamie
Chiari malformation in craniosynostosis
Introduction: Chiari mal- formation (CM) is a frequent finding in multisutural and syndromic cra- niosynostosis, occurring in 70% of patients with Crouzon's syndrome, 75% with oxycephaly, 50% with Pfeiffer's syndrome and 100% with the Kleeblattsch�del deformity. The pathogenesis of this condition and rationale for treatment are still con- troversial. Discussion: Since its first description in 1972, several factors have been
Giuseppe Cinalli; Pietro Spennato; Christian Sainte-Rose; Eric Arnaud; Ferdinando Aliberti; Francis Brunelle; Emilio Cianciulli; Dominique Renier
Visual fixation in Chiari type II malformation.
Chiari type II malformation is a congenital deformity of the hindbrain. Square wave jerks are horizontal involuntary saccades that interrupt fixation. Cerebellar disorders may be associated with frequent square wave jerks or saccadic oscillations such as ocular flutter. The effects of Chiari type II malformation on visual fixation are unknown. We recorded eye movements using an eye tracker in 21 participants with Chiari type II malformation, aged 8 to 19 years while they fixated a target for 1 minute. Thirty-eight age-matched healthy participants served as controls. Square wave jerks' parameters were similar in the 2 groups. Saccadic oscillations were not seen. Chiari type II malformation is not associated with pathological square wave jerks or abnormal saccadic oscillations. The congenital nature of this deformity may permit compensation that preserves stable visual fixation. Alternatively, the deformity of Chiari type II malformation may spare parts of the cerebellum that usually cause fixation instability when damaged. PMID:19182152
Salman, Michael S; Sharpe, James A; Lillakas, Linda; Dennis, Maureen; Steinbach, Martin J
Radiological Evaluation of Myelomeningocele � Chiari II Malformation
Myelomeningocele (MMC) is a malformation characterized by the failure of closure of the neural tube, usually (but not only)\\u000a at the lumbo-sacral level. Synonyms are spina bifida aperta, open spinal dysra � phism, and Chiari II malformation complex.\\u000a MMC is typically associated with a metamerically consistent paraplegia, a posterior fossa deformity known as the Chiari II\\u000a malformation, hydrocephalus, and a
Charles Raybaud; Elka Miller
Arnold-Chiari malformation with syrinx presenting as carpal tunnel syndrome: a case report 1 1 No commercial party having a direct financial interest in the results of the research supporting this article has or will confer a benefit upon the author(s) or upon any organization with which the author(s) is\\/are associated
Ziadeh MJ, Richardson JK. Arnold-Chiari malformation with syrinx presenting as carpal tunnel syndrome: a case report. Arch Phys Med Rehabil 2004;85:158-61.A 26-year-old administrative assistant presented with 3 years of left-hand dysesthesia involving primarily the first 3 digits. Her symptoms increased at night and with keyboard use. Through 12 visits to primary and specialty care physicians over 3 years, she experienced
Mark J Ziadeh; James K Richardson
Chiari malformation with thick occipital bone.
A case of a Chiari malformation with an extraordinarily thick occipital bone is described. The thick occipital bone might make the posterior fossa narrow with consequent herniation of the cerebellar tonsils to the foramen magnum and formation of a syrinx. At dural plasty, well-developed marginal and occipital sinuses should be deliberately handled with the preservation of normal venous drainage. This case gives us the essence of the occurrence mechanisms of Chiari malformation and foramen magnum decompression. PMID:21339798
Yasuhara, Takao; Miyoshi, Yasuyuki; Date, Isao
Hemifacial spasm and trigeminal neuralgia in Chiari's I malformation with hydrocephalus: Case report and literature review.
Chiari's I malformation with hydrocephalus is commonly seen in clinical experience. Trigeminal neuralgia (TN) and hemifacial spasm (HFS) are most commonly related to vascular compression of the root entry/enter zone (REZ). Until now, TN and HFS associated with hydrocephalus caused by Chiari's malformation have not been reported. The patient was a 24-year old male with left HFS and ipsilateral TN. Arnold-Chiari's I malformation with hydrocephalus and platybasia were found in magnetic resonance imaging (MRI) of brain. We underwent a programmable ventriculoperitoneal shunt with complete resolution of all symptoms. This is the first report of one case only presenting as coexistent ipsilateral TN and HFS secondary to Chiari's I malformation with hydrocephalus. PMID:24908219
Liu, Jiang; Yuan, Yue; Zang, Li; Fang, Ying; Liu, Hongjun; Yu, Yanbing
Hydromyelia and Chiari malformation in children and adolescents
A series of 24 patients with Chiari malformation and hydromyelia, treated at the Prince of Wales Children's Hospital between 1975 and 1991, is reviewed. The age range of these patients was 3 to 19 years. Eleven had a Chiari 1 malformation and 13 had a Chiari 2 malformation. The follow-up period ranged from 6 months to 16 years with a
R. F. C Jones; J. G. J Ayer; W. A Stening
Chiari malformation type I: A new MRI classification
Thirty patients with Chiari I malformation were examined by MRI over 2-year period. All patients underwent MRI scan before and after surgical decompression of the posterior fossa. Images of the craniocervical junction confirmed tonsillar herniation in all cases and allowed the definition of two anatomically distinct types of Chiari malformation. Twenty-one of the 30 patients (70%) had concomitant syringomyelia and
Talal A. Amer; Omran M. El-Shmam
The pediatric Chiari I malformation: a review
Background��Both the diagnosis and treatment regimens for the Chiari I malformation (CIM) are varied and controversial. The present paper\\u000a analyzes the literature regarding this form of hindbrain herniation in regard to definition, anatomy, pathobiology, symptoms,\\u000a findings, treatment, and outcomes.\\u000a \\u000a \\u000a \\u000a Discussions��Appropriate literature germane to the CIM is reviewed and discussed. There is variation in the reported anatomy, outcome,\\u000a and treatment for
R. Shane Tubbs; Michael J. Lyerly; Marios Loukas; Mohammadali M. Shoja; W. Jerry Oakes
La � malformation � de Chiari dans le syndrome de Crouzon
Background.- Use of MRI makes the association Chiari malformation-cranio-facial synostosis more frequent than expected. The aim of this work was to ascertain the true incidence of Chiari malformation and to understand the reasons of the association between a bone pathology and a CNS malformation.Patients and methods.- The anatomy of the posterior cranial fossa in Crouzon syndrome was retrospectively studied on
G Cinalli; D Renier; G Sebag; C Sainte-Rose; E Arnaud; A Pierre-Kahn
[Chiari type 1 malformation and magnetic resonance imaging].
The Chiari type 1 malformation is common. Unlike the Chiari type 2 and 3 malformations, it may remain latent for a long time, becoming symptomatic only in adulthood. The introduction of MRI has resulted in an increased number of diagnoses of this malformation in pediatric patients. It appears to be related to underdevelopment of the posterior cranial fossa. It must be differentiated from acquired tonsillar herniation, particularly when herniation results from intracranial hypotension; these cases are sometimes reported as acquired Chiari I malformation with spontaneous resolution. Tonsillar ectopia may cause symptoms by its direct effect on any or all of the medulla and the cerebellar and upper spinal cord. The most suggestive of the oculomotor disturbances is oscillopsia with downbeat nystagmus. Dysphonia and dysphagia are common. Potentially serious autonomic disturbances are also frequent: sleep apnea, respiratory failure, syncope and even sudden death. Another risk is syrinx formation, resulting from obstruction of CSF circulation in the cisterna magna. Syringomyelia is detected in 32 to 74% of patients with Chiari I malformation. Treatment is surgical. Posterior fossa decompression is achieved by suboccipital craniectomy combined with laminectomy of the upper cervical segments. Surgical intervention is indicated when the malformation is symptomatic and there is no doubt that it is the cause of the symptoms. When a Chiari I malformation is identified fortuitously on MRI, long-term monitoring is essential. The risk of developing symptoms increases over time. Patients should be advised not to participate in contact sports. PMID:16327707
Masson, C; Colombani, J-M
Chiari malformation and sleep related breathing disorders
Objective To estimate the frequency, mechanisms and predictive factors of sleep apnoea syndrome (SAS) in a large group of children and adults with type I (CMI) and II (CMII) Chiari malformation (CM). Background The anatomical and functional integrity of both respiratory circuits and lower cranial nerves controlling the upper airway is necessary for breathing control during sleep. These latter structures may be altered in CM, and a few investigations have reported CM related sleep disordered breathing. Methods Forty?six consecutive unrelated patients with CM (40 CMI, six CMII), of which 20 were children (eight males) and 26 were adults (12 males), underwent physical, neurological and oto?rhino?laryngoscopic examination, MRI and polysomnography. Results SAS was present in 31 (67.4%) of the patients with CM (70% of CMI, 50% of CMII, including mainly children). Sixty per cent of children with CM exhibited SAS, including 35% with obstructive (OSAS) and 25% with central (CSAS) sleep apnoea syndrome. SAS was observed in 73% of CM adults (57.7% OSAS, 15.4% CSAS). Severe SAS was found in 23% of CM adults. Multiple regression analysis revealed that age, type II Chiari and vocal cord paralysis predicted the central apnoea index. Conclusion SAS is highly prevalent in all age groups of patients suffering from CM. CSAS, a rare condition in the general population, was common among the patients with CM in our study. Sleep disordered breathing associated with CM may explain the high frequency of respiratory failures observed during curative surgery of CM. Our results suggest that SAS should be systematically screened for in patients with CM, especially before surgery.
Dauvilliers, Y; Stal, V; Abril, B; Coubes, P; Bobin, S; Touchon, J; Escourrou, P; Parker, F; Bourgin, P
Chiari type 1 malformation in a pseudotumour cerebri patient: is it an acquired or congenital Chiari malformation?
Chiari malformation type 1 (CM1) is a developmental abnormality of the cerebellar tonsils. Patients with CM1 commonly present with headache. Papilloedema is rarely seen in CM1. However, a 52-year-old woman presented to the hospital with a headache and her ophthalmological examination revealed bilateral papilloedema. Her cranial MRI was compatible with borderline CM1. Bilateral papilloedema and headache suggested idiopathic intracranial hypertension (IIH) as the preliminary diagnosis. IIH is a rare case in CM1. This article argues about this association and discusses as to whether it is an acquired or congenital Chiari malformation. PMID:24898995
Istek, Seref
Seizures in Chiari I Malformation: A Clinical and Electroencephalographic Study
Seven subjects with Chiari I malformations and seizures (four males, three females; age range 11 years, 7 months to 36 years; mean, 22.28 � 7.58 years; median, 21) were identified in four different centers from among a group of 10 patients. Our aim was to analyze clinical and electroencephalographic characteristics of seizures in this etiologically homogeneous group of patients. Most
Maurizio Elia; Roberto Biondi; Vito Sofia; Sebastiano A. Musumeci; Raffaele Ferri; Giuseppe Capovilla; Paolo Curatolo
The Chiari Pseudotumor Cerebri Syndrome: Symptom Recurrence after Decompressive Surgery for Chiari Malformation Type I
Introduction: The etiology of Chiari malformation type I (CM1) as well as other anomalies associated with CM1 remains poorly defined. We have noted the presence of elevated CSF pressures with small ventricles, consistent with the pseudotumor cerebri (PTC) syndrome in a group of CM1 patients that did not respond over the long term to posterior fossa decompression. In order to
Lisa H. Fagan; Sherise Ferguson; Reza Yassari; David M. Frim
Presentation of occult Chiari I malformation following spinal anesthesia
Chiari I malformation (CM-I) manifests with tonsillar herniation below foramen magnum. These patients are at high risk of respiratory depression and bulbar dysfunction in the perioperative period with underlying obstructive sleep apnea. However, the safe use of both general and regional anaesthesia has been documented in a known CM-I parturients. We describe the successful management of a patient who had hypercapnic respiratory failure in the post-anaesthetic care unit following an uneventful subarachnoid block for left knee replacement surgery. This patient was retrospectively diagnosed with occult CM-I and moderate to severe obstructive sleep apnea in the postoperative period.
Ankichetty, Saravanan P; Khunein, Saleh; Venkatraghavan, Lashmi
Presyrinx in a child with acquired Chiari I malformation.
Spinal cord signal abnormality resulting from alterations in cerebrospinal fluid flow at the craniocervical junction has been termed a presyrinx state. This condition has been described in the adult literature in association with a variety of conditions that cause obstruction to normal cerebrospinal fluid flow. We present a case of presyrinx in a child in the setting of acquired Chiari I malformation caused by lumboperitoneal overshunting. Awareness of the potentially reversible nature of this condition might allow for intervention before irreversible neurological damage has occurred. PMID:22932962
Nixon, Jason N; Stanescu, Luana A; Weinberger, Edward
NREM Sleep Parasomnia Associated with Chiari I Malformation
Parasomnias are common sleep disorders in children, and most cases resolve naturally by adolescence.1 They represent arousal disorders beginning in NREM sleep and are generally non-concerning in children. The diagnosis can usually be made by clinical assessment, and testing with polysomnography is not routinely indicated.2 However, in certain cases with atypical features, polysomnography and more extensive neurologic evaluation are medically indicated. Citation: Daftary AS; Walker JM; Farney RJ. NREM Sleep Parasomnia associated with Chiari I malformation. J Clin Sleep Med 2011;7(5):526-529.
Daftary, Ameet S.; Walker, James M.; Farney, Robert J.
A late complication of CSF shunting: acquired Chiari I malformation
Purpose��Acquired Chiari I malformation developing after cerebrospinal fluid (CSF) shunting is an intriguing late complication of CSF\\u000a shunt surgery and not only raises questions as to its pathogenesis but also poses many queries about the possible adverse\\u000a effects on the subsequent child development as well as on the indications and possibilities of surgical correction.\\u000a \\u000a \\u000a \\u000a Materials and methods��We report a series
Massimo Caldarelli; Federica Novegno; Concezio Di Rocco
Treatment of Chiari malformation: who, when and how.
There is no effective alternative to surgery in the treatment of the symptomatic cases of chiari malformation. Nonetheless, in literature there is no unanimous consensus about what is the surgical "gold standard" and which are the candidates for surgery. No doubt that intracranial hypertension and ventricular dilatation have to be investigated and treated before considering decompression. It is also very important to keep in mind that a surgery does not guarantee a complete recovery from every symptoms. We report our experience about who are the candidates for surgery, which is the most appropriate surgical technique and when is the correct time for surgery along the natural history of the disease. PMID:21822700
Imperato, Alessia; Seneca, Vincenzo; Cioffi, Valentina; Colella, Giuseppe; Gangemi, Michelangelo
Symptom recurrence after suboccipital decompression for pediatric Chiari I malformation: analysis of 256 consecutive cases
Objective��Symptom recurrence remains a problem for some patients after surgical decompression for Chiari I malformation. We set out\\u000a to identify variables at presentation that could identify subgroups most likely to experience incomplete symptom relief after\\u000a hindbrain decompression for Chiari I malformation.\\u000a \\u000a \\u000a \\u000a Materials and methods��We retrospectively reviewed the records of all pediatric patients undergoing first-time suboccipital decompression for Chiari\\u000a I malformation
Matthew J. McGirt; Frank J. Attenello; April Atiba; Giannina Garces-Ambrossi; Ghazala Datoo; Jon D. Weingart; Benjamin Carson; George I. Jallo
Interventional spinal procedures in the presence of a Chiari malformation: a potential contraindication.
Although Chiari malformations are much more prevalent than once believed, no study has described treatment with an interventional spinal procedure. The purpose of this report was to discuss the clinical course of a patient who was diagnosed with a Chiari malformation and treated with three cervical epidural injections. In 2012, a 50-yr-old woman presented to a neurology clinic with chronic suboccipital headaches, diplopia, and increasing numbness/tingling in her upper extremities. Magnetic resonance imaging confirmed a type I Chiari malformation and a cervical syrinx. The patient was treated with three cervical epidural injections, after which her symptoms exacerbated. Consequently, a posterior fossa suboccipital craniectomy with C1 laminectomy and excision of extradural and intradural adhesions was performed. After surgical intervention, notable neurologic improvements were observed. Given the marked worsening of symptoms, the present report suggests that interventional spinal procedures may be a contraindication in the presence of a Chiari malformation with a syrinx. PMID:24743463
Smith, Jason A; Cuccurullo, Sara J; Protzman, Nicole M; Kooch, Jason E
The Cerebellum in Children with Spina Bifida and Chiari II Malformation: Quantitative Volumetrics by Region
Few volumetric MRI studies of the entire cerebellum have been published; even less quantitative information is available in\\u000a patients with hindbrain malformations, including the Chiari II malformation which is ubiquitous in patients with spina bifida\\u000a meningomyelocele (SBM). In the present study, regional volumetric analyses of the cerebellum were conducted in children with\\u000a SBM\\/Chiari II and typically developing (TD) children. Total
Jenifer Juranek; Maureen Dennis; Paul T. Cirino; Lyla El-Messidi; Jack M. Fletcher
Chiari malformation: CSF flow dynamics in the craniocervical junction and syrinx
Summary��Background. A CSF flow study in patients with Chiari malformation (ChM) who undergo craniocervical junction decompression (CCJD).\\u000a \\u000a Methods. Using spatial modulation of magnetization (SPAMM), cerebrospinal fluid (CSF) flow velocities were measured at the prepontine\\u000a (PP), anterior cervical (AC), and posterior cervical (PC) subarachnoid spaces (SAS) in healthy subjects (n = 11) and patients\\u000a with Chiari malformation (ChM) before and\\/or after
D. E. Sakas; S. I. Korfias; S. C. Wayte; D. J. Beale; K. P. Papapetrou; G. S. Stranjalis; K. W. Whittaker; H. L. Whitwell
Brainstem hypertrophy, acquired Chiari malformation, syringomyelia, and hydrocephalus: diagnostic dilemma.
This 18-year-old woman presented with symptoms of right upper-extremity ataxia and imaging evidence of syringomyelia and an acquired Chiari malformation after a previous suboccipital decompression for cerebellar hemorrhage. The patient underwent posterior fossa reexploration to detether any adhesions and release scar tissue in the fourth ventricular outlet. Her symptoms of syringomyelia resolved but she then developed symptoms of lethargy, confusion, and amnesia in addition to ataxia. Repeat neural axis imaging revealed resolution of the syrinx but prominent brainstem hypertrophy. Eventually, the placement of a ventriculoperitoneal shunt resulted in the resolution of both symptoms and brainstem hypertrophy. In the present article, the authors elaborate on this first reported case of a reversible brainstem hypertrophy responsive to CSF shunting. PMID:21806361
Ramakrishna, Rohan; Mai, Jeffrey C; Filardi, Tanya; Browd, Samuel R; Ellenbogen, Richard G
Hypotonia, jaundice, and Chiari malformations: relationships to executive functions.
This article postulates that movement and action control are the underpinning of executive functioning. We selectively examine brain regions that have traditionally been almost exclusively understood as critical to the control and expression of movement-namely, the basal ganglia and the cerebellum. We first describe the relationship between movement and cognition. This is followed by a review of common developmental disorders that are known to exhibit abnormal executive functions and movement anomalies. Against that background, we examine hypotonia, neonatal jaundice, and Chiari I malformation, and we demonstrate why these are "at-risk" factors for neurodevelopmental disorders that can feature both motor control and executive function abnormalities. Our goal is to prepare the clinical neuropsychologist for gathering information about these features of a child's birth and developmental histories, while using this as a framework for interpreting test results and applying test data in a useful, practical way to guide descriptive diagnosis and treatment. PMID:23848246
Koziol, Leonard F; Barker, Lauren A
Surgical Management of Patients with Chiari I Malformation
Chiari malformations (CMs) constitute a variety of four mainly syndromes (I, II, III, and IV), which describe the protrusion of brain tissue into the spinal canal through the foramen magnum. These malformations frequently occur in combination with other pathological entities such as myelomeningocele, hydrocephalus, and/or hydrosyringomyelia. The recent improvement of imaging techniques has increased not only the rate of CM diagnosis but also the necessity for its early treatment. Several different surgical techniques have been employed in the treatment of patients with symptomatic CM-I. In our current study, a systematic and critical review of the pertinent literature was made for identifying the most commonly employed surgical procedures in the management of these patients. Emphasis was given in outlining the advantages and disadvantages of each surgical approach. Moreover, an attempt was made for defining those parameters that may be prognostic factors for their surgical outcome. There is a consensus that surgical treatment is reserved only for symptomatic patients with CM-I. It has also been postulated that early surgically intervention is usually associated with better outcome. Despite the large number of previously published clinical series, further clinical research with large-scale studies is necessary for defining surgical treatment guidelines in these patients.
Siasios, John; Kapsalaki, Eftychia Z.; Fountas, Kostas N.
Chiari malformation type I: a neuropsychological case study.
Chiari Malformation type I (CM-I) is a congenital anomaly that occurs when the cerebellar tonsils protrude through the foramen magnum. Individuals with this condition are typically asymptomatic and the identification of the malformation is usually an incidental finding during the course of treating another disorder. This case study explores the neuropsychological sequelae of two unique cases of CM-I in combat veterans. Neuropsychological evaluation revealed that both patients demonstrated preserved general cognitive functioning but had varying patterns of performance on measures of visuospatial, executive functioning, and processing speed. In terms of affective functioning, both endorsed significant depressive symptomatology, but had varying patterns of severity on other estimates of psychiatric symptomatology. Overall, results suggest that there is not one pattern of cognitive and affective functioning associated with CM-I and that environmental and psychological rather than neurological factors should be considered when evaluating cognitive and affective functioning. These cases also highlight the need for neuropsychological evaluation in CM-I in terms of providing guidance for psychoeducation and psychotherapy. PMID:24902143
Klein, Robert; Hopewell, C Alan; Oien, Michael
Aggressive Surgical Management of Patients with Chiari II Malformation and Brainstem Dysfunction
Background\\/Aims: Chiari II malformation represents a group of developmental abnormalities involving the caudal displacement of the cervicomedullary junction, pons, fourth ventricle, and medulla. This constellation of malformations is strongly associated with myelomeningocele (MM) and is a known cause of neurologic deterioration in older MM patients. We describe the evaluation and management of 4 adult MM patients who presented with brainstem
Maryam Rahman; Leigh Ann Perkins; David W. Pincus
MRI findings and sleep apnea in children with Chiari I malformation.
Chiari I malformation is characterized by downward herniation of the cerebellar tonsils through the foramen magnum. Scant data are available on the clinical course, relationship to the extent of herniation on magnetic resonance imaging in Chiari I malformation and the presence of sleep-disordered breathing on polysomnography. Retrospective analysis was performed looking at polysomnographic findings of children diagnosed with Chiari I malformation. Details on how Chiari I malformation was diagnosed, brainstem magnetic resonance imaging findings, and indications for obtaining the polysomnogram in these patients were reviewed. We also reviewed available data on children who had decompression surgery followed by postoperative polysomnography findings. Twenty-two children were identified in our study (11 males, median age 10 years, range 1 to 18). Three had central sleep apnea, five had obstructive sleep apnea, and one had both obstructive and central sleep apnea. Children with sleep-disordered breathing had excessive crowding of the brainstem structures at the foramen magnum and were more likely to have a greater length of herniation compared with those children without sleep-disordered breathing (P�= 0.046). Patients with central sleep apneas received surgical decompression, and their conditions were significantly improved on follow-up polysomnography. These data suggest that imaging parameters may correlate with the presence of sleep-disordered breathing in children with Chiari I malformation. PMID:23498564
Khatwa, Umakanth; Ramgopal, Sriram; Mylavarapu, Alexander; Prabhu, Sanjay P; Smith, Edward; Proctor, Mark; Scott, Michael; Pai, Vidya; Zarowski, Marcin; Kothare, Sanjeev V
Size of posterior fossa in Chiari type 1 malformation in adults.
The clinical and neuroradiological findings in five patients with Chiari Type 1 malformation presenting symptoms in adult life are presented. New posterior fossa ratio methods have been applied to this material. The posterior cranial fossae are demonstrated to be small, and the most significant deviation from normal gave the ratio h/Tw: posterior fossa height in proportion to Twining's line. The implications of these findings are discussed in relation to the static and dynamic factors that are operating in the development of neurological symptoms in Chiari type 1 malformation. A final discussion is given comparing the Chiari type 1 malformations to meningo-myelocele. The findings using posterior fossa ratio methods may strengthen the indications for suboccipital craniectomy in these patients. PMID:676804
Nyland, H; Krogness, K G
Quantitative analysis of Chiari-like malformation and syringomyelia in the Griffon Bruxellois dog.
This study aimed to develop a system of quantitative analysis of canine Chiari-like malformation and syringomyelia on variable quality MRI. We made a series of measurements from magnetic resonance DICOM images from Griffon Bruxellois dogs with and without Chiari-like malformation and syringomyelia and identified several significant variables. We found that in the Griffon Bruxellois dog, Chiari-like malformation is characterized by an apparent shortening of the entire cranial base and possibly by increased proximity of the atlas to the occiput. As a compensatory change, there appears to be an increased height of the rostral cranial cavity with lengthening of the dorsal cranial vault and considerable reorganization of the brain parenchyma including ventral deviation of the olfactory bulbs and rostral invagination of the cerebellum under the occipital lobes. PMID:24533070
Knowler, Susan P; McFadyen, Angus K; Freeman, Courtenay; Kent, Marc; Platt, Simon R; Kibar, Zoha; Rusbridge, Clare
Relevance of surgical strategies for the management of pediatric Chiari type I malformation
Objective��In face of continuing controversy to the optimal treatment of Chiari type I malformation, the authors analyzed three different\\u000a surgical strategies.\\u000a \\u000a \\u000a \\u000a Materials and methods��Sixty patients (30 boys and 30 girls, mean age 8.2�years) presented with clinical Chiari malformation. Additional syringomyelia\\u000a was present in 24 children, whereas cine flow studies showed no flow in the craniocervical junction in 48 children. All
Marcelo Galarza; Sandeep Sood; Steven Ham
Surgical treatment of Chiari I malformation complicated with syringomyelia
The aim of this study was to evaluate the curative effects of various surgical procedures on Chiari I malformation (CMI) complicated with syringomyelia. A total of 185 patients with CMI complicated with syringomyelia who received treatment between January 1997 and December 2011 were recruited. All patients underwent posterior fossa decompression in which the lamina of the first cervical vertebra was removed, with the removal of the second or third depending on the severity of the cerebellar tonsil herniation. Of the patients, 76 underwent large-bone-window decompression and duraplasty, while 109 underwent small-bone-window decompression, displaced cerebellar tonsil resection and duraplasty. The curative effects of the different surgical procedures were analyzed retrospectively. Clinical symptoms were eliminated or improved in 156 patients (84.3%) by the time of discharge from hospital. A total of 148 patients were evaluated using magnetic resonance imaging (MRI) which revealed that the cisterna magna was reconstructed in 92 patients and spinal syrinx was reduced in 75. Follow-up was performed on 147 patients (79.5%) for between 3 months and 12 years. During the follow-up, symptoms were eliminated or improved in 110 patients (74.8%), not improved in 26 (17.7%) and deteriorated in 11 (7.5%). MRI was performed on 95 patients during follow-up examinations and the cisterna magna was reconstructed in 87 patients and spinal syrinx was reduced in 79. Small-bone-window decompression plus duraplasty is an effective surgical procedure for treating CMI complicated with syringomyelia and intraoperative cerebellar tonsillectomy significantly aids patient recovery.
Surgical treatment of Chiari I malformation complicated with syringomyelia.
The aim of this study was to evaluate the curative effects of various surgical procedures on Chiari I malformation (CMI) complicated with syringomyelia. A total of 185 patients with CMI complicated with syringomyelia who received treatment between January 1997 and December 2011 were recruited. All patients underwent posterior fossa decompression in which the lamina of the first cervical vertebra was removed, with the removal of the second or third depending on the severity of the cerebellar tonsil herniation. Of the patients, 76 underwent large-bone-window decompression and duraplasty, while 109 underwent small-bone-window decompression, displaced cerebellar tonsil resection and duraplasty. The curative effects of the different surgical procedures were analyzed retrospectively. Clinical symptoms were eliminated or improved in 156 patients (84.3%) by the time of discharge from hospital. A total of 148 patients were evaluated using magnetic resonance imaging (MRI) which revealed that the cisterna magna was reconstructed in 92 patients and spinal syrinx was reduced in 75. Follow-up was performed on 147 patients (79.5%) for between 3 months and 12 years. During the follow-up, symptoms were eliminated or improved in 110 patients (74.8%), not improved in 26 (17.7%) and deteriorated in 11 (7.5%). MRI was performed on 95 patients during follow-up examinations and the cisterna magna was reconstructed in 87 patients and spinal syrinx was reduced in 79. Small-bone-window decompression plus duraplasty is an effective surgical procedure for treating CMI complicated with syringomyelia and intraoperative cerebellar tonsillectomy significantly aids patient recovery. PMID:23251294
Bao, Changshun; Yang, Fubing; Liu, Liang; Wang, Bing; Li, Dingjun; Gu, Yingjiang; Zhang, Shuling; Chen, Ligang
DTI of commissural fibers in patients with Chiari II-malformation
Chiari II-malformation is a complex congenital deformity of the brain which is frequently associated with hydrocephalus. Abnormalities of the corpus callosum are known to occur in the majority of patients. The objective of the present study was to study the microstructure of the corpus callosum (CC) and the anterior commissure (AC) to differentiate between different mechanisms of damage to these
C. Herweh; M. Akbar; M. Wengenroth; M. Blatow; J. Mair-Walther; N. Rehbein; E. Nennig; J. P. Schenk; S. Heiland; C. Stippich
Acquired Chiari I Malformation and Syringomyelia after Valveless Lumboperitoneal Shunt in Infancy
The authors present the case of a 13-year-old boy who experienced frequent disabling episodes of typical postural induced headaches, which revealed a Chiari I malformation, syringomyelia and cervical spinal cord edema. This boy had received a valveless lumboperitoneal (LP) shunt at the age of 18 months for macrocephaly. At this time, cranial CT scan showed moderate enlargement of the subarachnoid
Laurent Riffaud; Carolina Moughty; Pierre-Louis Henaux; Claire Haegelen; Xavier Morandi
Chiari I Malformation Presenting as Downbeat Nystagmus: Clinical Presentation, Diagnosis, and Management
Introduction Chiari I malformation is a congenital, neurological condition that is characterized by defects of the skull base resulting in herniation of the cerebellum through the foramen magnum into the cervical spinal canal. Because the condition can result in visual symptoms, patients will often search for answers from their eye care providers. -Case Report A 28-year-old Hispanic diabetic male with
Denise Goodwin; Ami R. Halvorson
Chiari Type I Malformations in Young Adults: Implications for the College Health Practitioner
ERIC Educational Resources Information Center
In this article, the authors describe 2 cases of Chiari type I malformation (CM-I) in students presenting to a college health center within a 6-month period. A review of CM-I, including epidemiology, typical presentation, evaluation, and management, is followed by a discussion of the clinical and functional implications of the disorder in an�
Elam, Mary Jane; Vaughn, John A.
Spontaneous resolution of a Chiari I malformation associated syringomyelia in one child
Summary A child with complete spontaneous resolution of a Chiari I malformation associated Syringomyelia without surgical intervention is presented. The child was followed clinically by serial magnetic resonance imaging (MRI) and remains neurologically stable after 8-years of follow-up. To our knowledge, only 6 pediatric cases with spontaneous resolution of a spinal cord syrinx documented by MRI without surgical intervention have
A. Guillen; J. M. Costa
Syringomyelia in three small breed dogs secondary to Chiari-like malformation: clinical and diagnostic findings
Three small breed dogs were referred for the evaluation of neurologic deficits. Upon physical and neurologic examination, all dogs displayed hyperesthesia, pain, and neck stiffness. Magnetic resonance imaging was performed on the brain and spinal cord, and all three dogs presented Chiari- like malformations and syringomyelia. These dogs were treated with prednisolone and furosemide, and showed rapid improvement of clinical
Chul Park; Byeong-Teck Kang; Jong-Hyun Yoo; Hee-Myung Park
Foramen magnum decompression for Chiari I malformation: A procedure not to be underestimated.
Abstract Objective. Chiari I malformation may be treated with foramen magnum decompression (FMD). We aim to describe the symptoms with which patients initially present, and to determine the number and type of complications occurring after FMD for Chiari I malformation. Methods. Retrospective review of medical records for patients who had FMD performed for Chiari I malformation between January 2009 and December 2011. Post-operative outcomes were recorded and analysed. Patient demographic details and other relevant medical conditions were also noted. Results. Between January 2009 and December 2011, 54 FMDs were performed for Chiari I malformation. Among them, 40(74%) patients were female and 14 patients (26%) were male. The majority of patients (42.6%) were aged 16-39 years and 24.07% of patients were children aged < 16 years. A total of 30(55.6%) patients had documented evidence of a syrinx pre-operatively. 18(33.3%) patients developed complications. Nine of these developed multiple complications while nine had a single problem. One mortality was reported. Ten (18.5%) patients developed hydrocephalus requiring shunting. Two patients developed subdural collections requiring evacuation associated with hydrocephalus. Six (11.1%) patients developed post-operative infections: two CNS infections; one wound infection; and three other infections. Conclusions. FMD for Chiari I malformation is a procedure which carries risk. In particular, the risk of developing post-operative hydrocephalus requiring permanent shunting is relatively high. ICP monitoring prior to FMD may be required to definitively rule out raised intracranial pressure. PMID:24066685
Duddy, John Charles; Allcutt, David; Crimmins, Darach; O'Brien, David; O'Brien, Donncha Finbarr; Rawluk, Daniel; Sattar, Mohammed Taufiq; Young, Steven; Caird, John
Chiari I malformation presenting with hearing loss: surgical treatment and literature review
Objects��Chiari I malformations can present with a number of clinical signs and symptoms.\\u000a \\u000a \\u000a \\u000a Methods��We present a case of an 11-year-old girl that presented with significant sensorineural hearing loss as her only Chiari-related\\u000a symptom. The patient had four audiograms that all demonstrated progressive bilateral hearing loss between 10 and 30�dB. On\\u000a magnetic resonance scan, the patient was found to have a
Gregory G. Heuer; Brandon Gabel; Paul S. Lemberg; Leslie N. Sutton
Suboccipital craniotomy in the surgical treatment of Chiari I malformation
Object��The object of this study was to present craniotomy for Chiari type I patients.\\u000a \\u000a \\u000a \\u000a Materials and methods��Six patients with Chiari type I underwent suboccipital craniotomy. All patients showed clinical improvement, and none had\\u000a any complications. Two patients had syringomyelia; it disappeared in entirety. We describe the procedure for posterior fossa\\u000a decompression.\\u000a \\u000a \\u000a \\u000a Results��Three-dimensional volumetric analysis using Vitrea workstation for postoperative posterior
Yu-Cheng Chou; Rajashree Sarkar; Ferdnand C. Osuagwu; Jorge A. Lazareff
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A rare case of Chiari type-1 malformation accompanied by symptomatic cerebrospinal fluid hypovolemia: comparison of congenital Chiari type-1 malformation and acquired Chiari malformation secondary to cerebrospinal fluid hypovolemia: case report.
A 23-year-old woman was injured in a rear-end collision. She had general malaise and posterior neck pain, which were more severe when she was in an upright position. Magnetic resonance imaging (MRI) revealed the presence of cerebellar tonsil descensus and syringomyelia in the spinal cord. Radioisotope (RI) cisternography showed signs of an early accumulation of RI in the bladder, and a delayed accumulation of RI in the cerebral fornix. We considered the possibilities of cerebrospinal fluid (CSF) hypovolemia and congenital Chiari type-1 malformation as being responsible for her headache. To obtain a definitive diagnosis, we performed gadolinium (Gd)-enhanced MR cisternography and found evidence of CSF leakage. We performed an epidural blood patch (EBP), and her symptoms resolved. In 2 years since the episode, her symptoms have not recurred, and additional treatment has not been required. In addition, MRI performed 2 years after the EBP did not reveal any changes. There seems no previous report which described successful differentiation of pre-existing congenital Chiari type-1 malformation from the acquired one caused by symptomatic CSF hypovolemia. Because treatment protocols differ between these two conditions, the establishment of a correct diagnosis is important. PMID:24477061
Hatae, Ryusuke; Kohri, Ryusuke; Maeda, Kazushi; Miyazono, Masayuki
Imaging Findings in Chiari I Malformation with Syringomyelia in a Case of Charcot Shoulder
Neuropathic arthropathy of the shoulder is reported in only 5% of cases. Here, we report a rare case of neuropathic arthropathy of the shoulder, secondary to Chiari malformation Type I with associated syringomyelia, that remained undetected for four years. A 38-year-old female presented to our Department with a swelling over the right shoulder that had persisted for four years. X-ray of the joint showed destruction of the head of the right humerus, with typical blunt amputated appearance of the bone and increased joint space. Magnetic resonance imaging showed destruction and lateral dislocation of the head of the humerus. Large amount of fluid collection was seen in and around the right shoulder joint. Neuropathic osteoarthropathy can be defined as bone and joint changes that occurs secondary to loss of sensation. In our case, neuropathic shoulder joint was secondary to syringomyelia associated with Chiari I malformation.
Kumar, Shantanu; Sharma, Vineet; Kumar, Santosh; Jain, Sonal
Rapidly progressive foot drop: an uncommon and underappreciated cause of Chiari I malformation and holocord syrinx.
We describe a case of a 16-year-old boy presented with rapidly progressive right foot drop without any predisposing illness or antecedent events. Nerve conduction study was non-contributory and needle electromyography localised proximal lesion which prompted spine neuroimaging. MRI of whole spine and brain revealed Chiari I malformation along with holocord syringomyelia. The patient underwent suboccipital craniectomy and C1 laminectomy with duroplasty decompressing the foramen magnum. He responded to surgical intervention without further complications. PMID:23897377
Panda, Akhila Kumar; Kaur, Manmeet
Decompression of the spinal subarachnoid space as a solution for syringomyelia without Chiari malformation
Study design: Review and analysis of seven cases of syringomyelia treated surgically.Objective: To demonstrate the beneficial role of decompressive surgery for the altered cerebrospinal fluid (CSF) flow dynamics in syringomyelia not associated with Chiari I malformation. A comparison between the pre- and post-operative syrinx size and CSF flow in the subarachnoid space was made using cine-mode magnetic resonance imaging (cine-MRI)
J-H Lee; C-K Chung; HJ Kim
A case report of Charcot arthropathy caused by syringomyelia and Chiari malformation complicated with scoliosis
Background Although Charcot arthropathy, also known as neuropathic arthropathy, of which early diagnosis and treatment is extremely difficult, associated with other cause factor has been widely described, Charcot arthropathy caused by syringomyelia and Chiari malformation complicated with scoliosis has never been described in the literature. Case presentation A 44-year-old male was hospitalized for diagnosis and treatment due to complaining the progressively swelling and limitation of motion in his left shoulder joint for 1�year. The patient has no significant past medical history except for scoliosis 8�years prior to his presentation to our clinic; He denied any constitutional symptoms, trauma, or pain in the upper extremities at this time of presentation. Based on history, physical and auxiliary examination, following diagnoses were made: Charcot arthropathy of the left shoulder, syringomyelia, Chiari malformation and scoliosis. Conclusion Once Charcot arthritis was found, it was mostly in advanced stage and very difficult to treat. So we recommended that if patient suffering from scoliosis visited in clinic, further examination such as magnetic resonance imaging (MRI) and regular follow-up should be carried out, and early-stage of this devastating disease caused by syringomyelia and Chiari malformation may be diagnosed easily.
Identification of the large descending tracts using diffusion tensor imaging in Chiari III malformation
Introduction��The paper focuses on the use of diffusion tensor imaging (DTI) in the evaluation of one case of Chiari III malformation.\\u000a \\u000a \\u000a \\u000a Case report��In the case discussed, DTI was used to delineate the position of large descending tracts within the malformation and the reconstructed\\u000a images were used to plan the surgical procedure.\\u000a \\u000a \\u000a \\u000a \\u000a Discussion��The clinical and imaging findings, the technical aspects of
Amir Zolal; Petr Vachata; Ales Hejcl; Alberto Malucelli; Robert Bartos; Martin Sames
Mechanisms of cerebellar tonsil herniation in patients with Chiari malformations as guide to clinical management
Background The pathogenesis of Chiari malformations is incompletely understood. We tested the hypothesis that different etiologies have different mechanisms of cerebellar tonsil herniation (CTH), as revealed by posterior cranial fossa (PCF) morphology. Methods In 741 patients with Chiari malformation type I (CM-I) and 11 patients with Chiari malformation type II (CM-II), the size of the occipital enchondrium and volume of the PCF (PCFV) were measured on reconstructed 2D-CT and MR images of the skull. Measurements were compared with those in 80 age- and sex-matched healthy control individuals, and the results were correlated with clinical findings. Results Significant reductions of PCF size and volume were present in 388 patients with classical CM-I, 11 patients with CM-II, and five patients with CM-I and craniosynostosis. Occipital bone size and PCFV were normal in 225 patients with CM-I and occipitoatlantoaxial joint instability, 55 patients with CM-I and tethered cord syndrome (TCS), 30 patients with CM-I and intracranial mass lesions, and 28 patients with CM-I and lumboperitoneal shunts. Ten patients had miscellaneous etiologies. The size and area of the foramen magnum were significantly smaller in patients with classical CM-I and CM-I occurring with craniosynostosis and significantly larger in patients with CM-II and CM-I occurring with TCS. Conclusions Important clues concerning the pathogenesis of CTH were provided by morphometric measurements of the PCF. When these assessments were correlated with etiological factors, the following causal mechanisms were suggested: (1) cranial constriction; (2) cranial settling; (3) spinal cord tethering; (4) intracranial hypertension; and (5) intraspinal hypotension.
Nishikawa, Misao; Kula, Roger W.; Dlugacz, Yosef D.
Progression of pre-existing Chiari type I malformation secondary to cerebellar hemorrhage: case report.
A previously healthy 32-year-old man was surgically treated under a diagnosis of right subcortical hematoma. Magnetic resonance imaging incidentally demonstrated tonsillar herniation. Thirty-two months later, he was readmitted with complaints of occipital, neck, and shoulder pain as well as cerebellar ataxia. Subsequent magnetic resonance imaging demonstrated cerebellar hemorrhage and progression in the downward herniation of the tonsils. Conservative treatment resulted in spontaneous disappearance of the cerebellar hematoma, and the clinical signs and radiological findings improved. Patients with Chiari type I malformation require neuroimaging follow up because the downward herniation of the tonsils can progress in association with subsequent pathophysiological disorders. PMID:19246872
Kojima, Atsuhiro; Mayanagi, Keita; Okui, Shunichi
Treatment of failed Adult Chiari Malformation decompression with CSF drainage: observations in six patients
Summary.��\\u000a ?Objective: We report the use of CSF drainage for the management of failed Adult Chiari Malformation (ACM) decompression.\\u000a \\u000a \\u000a \\u000a ?Methods: All patients with more than one year follow-up after treatment of their failed ACM were included in this study. They underwent\\u000a initial decompression between September 1998 and April 2000. Clinical and radiological data were collected initially and at\\u000a recurrence. Lumbar
G. K. Bejjani; K. P. Cockerham; W. E. Rothfus; J. C. Maroon; M. Maddock
Factors contributing improvement of syringomyelia and surgical outcome in type ? Chiari malformation
Objective��The aim of our study was to compare pre- and postoperative radiologic data of posterior fossa and the improvement of syringomyelia\\u000a after posterior fossa decompression (PFD) with and without tonsillar management in Chiari type ? malformation (CM-I).\\u000a \\u000a \\u000a \\u000a Material and methods��A retrospective analysis was made of all patients who underwent PFD between Oct 1991 and March 2007 for CM-I. Fifty-seven\\u000a patients
Young Seok Park; Dong-Seok Kim; Kyu-Won Shim; Jung-Hee Kim; Joong-Uhn Choi
Delayed cervical spinal cord tethering following tonsillar resection for Chiari malformation.
Although tethering of the spinal cord in the lumbosacral region, particularly following repair of congenital anomalies, such as myelomeningocele, is a well-known phenomenon, only sporadic reports of tethering along the rest of the neuraxis, including the hindbrain, cervical and thoracic spinal cord have been documented. In this report, we describe a woman who developed symptoms related to tethering of the cervical spinal cord 5 years after suboccipital decompressive surgery of the posterior fossa for Chiari I malformation. The authors discuss the diagnosis, treatment, and postoperative course of this entity. PMID:18803081
Sekula, R F; Kathpal, M; Blumenkopf, B; Wilberger, A C; Jannetta, P J
Spontaneous regression of syringomyelia in a young patient with Chiari type I malformation.
Syringomyelia is a disorder in which a cyst or cavity forms within the spinal cord. This cyst, called syrinx, can expand and elongate over time, destroying the spinal cord. We describe the case of a young patient with partial spontaneous regression of syringomyelia in Chiari I malformation, confirmed by magnetic resonance imaging three years after the diagnosis. During this period the patient did not experience any clinical symptoms. Although described in literature, spontaneous regression is an unusual event and very few cases have been reported. This case report supports the belief that conservative management together with both clinical and imaging periodic controls should be preferred in stable mild-symptomatic patients. PMID:24029095
Tortora, F; Napoli, M; Caranci, F; Cirillo, M; Pepe, D; Cirillo, S; Briganti, F
Long-term outcome of surgical management of adult Chiari I malformation.
Chiari I malformation continues to inspire controversy. Debate still exists about surgical options. The aim of this study is to evaluate the long-term outcome of posterior fossa decompression procedure (PFD) in the treatment of adult Chiari I malformation, focusing on some factors or technical aspects which might influence the outcome. Forty-six adult patients with Chiari I malformation operated by PFD are the subject of this study. The group included 21 males and 25 females, with mean age of 37.4 years. Patients were divided into two groups: group I (32 cases) with syringomyelia and group II (14 cases) without syringomyelia. Group I was further subdivided into three subgroups according to the surgical procedure adopted: group Ia (12 cases) operated by PFD only, group Ib (14 cases) operated by PFD with fourth ventricular shunt, and group Ic (six cases) operated by PFD and syringosubarachnoid shunt. All cases included in group II were operated by PFD only. In group I, symptoms improved in 14 cases (43.8 %) and stabilized in 18 cases (56.3 %), whereas in group II, symptoms resolved in ten cases (71.4 %) and improved in four cases (28.6 %). Postoperative magnetic resonance imaging showed that the syrinx was resolved in 21 cases (65.6 %), improved in seven cases (21.9 %), and unchanged in four cases (12.5 %). Among the mean follow-up period (5.8 years), recurrence of symptoms occurred in five cases (10.9 %), all of them are included in group I, and were reoperated again. Posterior fossa decompression is recommended as the treatment of choice in adult Chiari I malformation with or without syringomyelia. The presence of syringomyelia predicts a less favorable response to surgical intervention. Syringosubarachnoid shunting did not improve the long-term outcome either clinically or radiologically. Implanting a fourth ventricular shunt in cases of syringomyelia associated with adhesions at the foramen of Magendie decreases the long-term incidence of recurrence significantly. For recurrent cases, re-exploration of the initial posterior fossa decompression is recommended before any consideration is given for direct management of the syrinx. PMID:22527628
El-Ghandour, Nasser M F
Spontaneous resolution of a Chiari malformation Type I and syrinx after supratentorial craniotomy for excision of a cavernous malformation.
The pathogenesis of Chiari malformation Type I (CM-I) and associated syringomyelia is incompletely understood. Patients often present in middle age with incidental or minimally symptomatic CM-I, whose management is controversial. One option is clinical and radiographic observation of asymptomatic and minimally symptomatic patients. The authors here present the case of a 36-year-old woman who had been monitored for 6 years for a minimally symptomatic CM-I and cervicothoracic syrinx. After 5 years of follow-up, she suffered spontaneous rupture of a cerebral cavernous malformation when she was 27 weeks pregnant. The ruptured cavernous malformation and hematoma were operatively managed via a right frontal craniotomy. Ten months after the craniotomy for resection of the ruptured cavernous malformation, follow-up MRI demonstrated resolution of the CM-I and syrinx. Few similar cases have been reported in adults. This case argues for the presence of dynamic factors in the development and maintenance of CM-I and supports the nonoperative treatment of asymptomatic and minimally symptomatic patients. PMID:22324421
Miele, William R; Schirmer, Clemens M; Yao, Kevin C; Heilman, Carl B
Chiari Malformation Type I, presenting as scapulothoracic pain: a case report.
Patients presenting with recalcitrant symptoms, which are resistant to a range of physical interventions over an extended period of time, need to be examined with care. A 'forensic' approach to the assessment of these patients, with a sensitive approach to the results of the test procedures is required to ensure the practitioner does not miss the more obscure causes. This case report presents a patient who was referred for a clinical assessment for long standing scapular pain, which had been labelled myofascial pain. Through a thorough approach to examination a number of flags appeared which suggested a need for further investigation. These investigations identified that the patient demonstrated a Chiari Malformation Type 1. On review 5 months following neurosurgical intervention her symptoms were significantly reduced. Chiari Malformations Type 1 are often diagnosed in adulthood when symptoms usually first appear. These symptoms may mimic those found with musculoskeletal conditions. Whilst we lack specific clinical tests for this condition, a thorough assessment should identify sufficient 'flags' for referral for further investigations. PMID:22245421
Worth, David R; Milanese, Steven
Posterior reversible encephalopathy syndrome in a patient with a Chiari I malformation
Background: The authors describe a unique case of a patient who developed posterior reversible encephalopathy syndrome (PRES) following postoperative treatment of a Chiari I malformation. Case Decsription: A 25-year-old female presented with complaints of left upper and lower extremity paresthesias and gait disturbances. A magnetic resonance imaging (MRI) of the brain and cervical spine showed a Chiari I malformation with tonsillar descent beyond the level of the C1 lamina. She underwent a suboccipital craniectomy and C1 laminectomy with cerebellar tonsillar cauterization and duraplasty. Postoperatively, an MRI showed bilateral acute infarcts of the cerebellar vermis. She was initially treated for cerebellar ischemia with hypertensive therapy with a subsequent decline in her neurologic status and generalized tonic�clonic seizure. Further workup showed evidence of PRES. After weaning pressors, the patient had a significant progressive improvement in her mental status. Conclusion: Although the mechanism of PRES remains controversial given its diverse clinical presentation, several theories implicate hypertension and steroid use as causative agents.
Hansberry, David R.; Agarwal, Nitin; Tomei, Krystal L.; Goldstein, Ira M.
Amelioration of Chiari type 1 malformation and syringomyelia following posterior calvarial distraction in Crouzon's syndrome - a case report.
Multisutural craniosynostosis as seen in Crouzon's syndrome can result in raised intracranial pressure, Chiari malformation (CM) and syringomyelia. Posterior calvarial distraction (PD) is a technique for addressing cranio-cephalic disproportion, and this case report describes the reversal of both CM and syrinx in a 6-year-old child who underwent PD initially for raise intracranial pressure. PMID:23780407
Ahmad, Fateh; Evans, Martin; White, Nicholas; Nishikawa, Hiroshi; Dover, Stephen; Solanki, Guirish; Rodrigues, Desiderio
A unifying hypothesis for hydrocephalus, Chiari malformation, syringomyelia, anencephaly and spina bifida
This work is a modified version of the Casey Holter Memorial prize essay presented to the Society for Research into Hydrocephalus and Spina Bifida, June 29th 2007, Heidelberg, Germany. It describes the origin and consequences of the Chiari malformation, and proposes that hydrocephalus is caused by inadequate central nervous system (CNS) venous drainage. A new hypothesis regarding the pathogenesis, anencephaly and spina bifida is described. Any volume increase in the central nervous system can increase venous pressure. This occurs because veins are compressible and a CNS volume increase may result in reduced venous blood flow. This has the potential to cause progressive increase in cerebrospinal fluid (CSF) volume. Venous insufficiency may be caused by any disease that reduces space for venous volume. The flow of CSF has a beneficial effect on venous drainage. In health it moderates central nervous system pressure by moving between the head and spine. Conversely, obstruction to CSF flow causes localised pressure increases, which have an adverse effect on venous drainage. The Chiari malformation is associated with hindbrain herniation, which may be caused by low spinal pressure relative to cranial pressure. In these instances, there are hindbrain-related symptoms caused by cerebellar and brainstem compression. When spinal injury occurs as a result of a Chiari malformation, the primary pathology is posterior fossa hypoplasia, resulting in raised spinal pressure. The small posterior fossa prevents the flow of CSF from the spine to the head as blood enters the central nervous system during movement. Consequently, intermittent increases in spinal pressure caused by movement, result in injury to the spinal cord. It is proposed that posterior fossa hypoplasia, which has origins in fetal life, causes syringomyelia after birth and leads to damage to the spinal cord in spina bifida. It is proposed that hydrocephalus may occur as a result of posterior fossa hypoplasia, where raised pressure occurs as a result of obstruction to flow of CSF from the head to the spine, and cerebral injury with raised pressure occurs in anencephaly by this mechanism. The current view of dysraphism is that low central nervous system pressure and exposure to amniotic fluid, damage the central nervous system. The hypothesis proposed in this essay supports the view that spina bifida is a manifestation of progressive hydrocephalus in the fetus. It is proposed that that mesodermal growth insufficiency influences both neural tube closure and central nervous system pressure, leading to dysraphism.
Williams, Helen
Chiari Type I malformation yielded to the diagnosis of Crouzon syndrome.
Chiari malformation Type I (CM-I) related to syndromic craniosynostosis in pediatric patients has been well-studied. The surgical management consists of cranial vault remodeling with or without posterior fossa decompression. There were also cases, in whom CM-I was diagnosed prior to the craniosynostosis in early childhood. We present a 16-year-old boy who admitted with symptoms related to CM-I. With careful examination and further genetic investigations, a diagnosis of Crouzon syndrome was made, of which the patient and his family was unaware before. The patient underwent surgery for posterior fossa decompression and followed-up for Crouzon's syndrome. To our knowledge, this is the only case report indicating a late adolescent diagnosis of Crouzon syndrome through clinical symptoms of an associated CM-I. PMID:24741262
Canpolat, Aydin; Ak�akaya, Mehmet Osman; Altunrende, Emre; Ozl�, Harun Mehmet; Duman, Hakan; Ton, Tu?rul; Akdemir, Osman
Chiari Type I malformation yielded to the diagnosis of Crouzon syndrome
Chiari malformation Type I (CM-I) related to syndromic craniosynostosis in pediatric patients has been well-studied. The surgical management consists of cranial vault remodeling with or without posterior fossa decompression. There were also cases, in whom CM-I was diagnosed prior to the craniosynostosis in early childhood. We present a 16-year-old boy who admitted with symptoms related to CM-I. With careful examination and further genetic investigations, a diagnosis of Crouzon syndrome was made, of which the patient and his family was unaware before. The patient underwent surgery for posterior fossa decompression and followed-up for Crouzon's syndrome. To our knowledge, this is the only case report indicating a late adolescent diagnosis of Crouzon syndrome through clinical symptoms of an associated CM-I.
Canpolat, Aydin; Akcakaya, Mehmet Osman; Altunrende, Emre; Ozlu, Harun Mehmet; Duman, Hakan; Ton, Tugrul; Akdemir, Osman
Chiari malformation and sleep-disordered breathing: a review of diagnostic and management issues.
Chiari Malformation (CM) encompasses several patterns of congenital or acquired cerebellar herniation through the foramen magnum. This may result in brain-stem compression that impacts control of breathing and is associated with obstructive and central apneas. A high clinical suspicion for sleep-disordered breathing is needed in the care of such patients after as well as before corrective surgery. To introduce a review of CM with a focus on the relevance to sleep medicine, we present a case of a 13-year-old female who was diagnosed with CM Type 1 in the course of an evaluation of symptomatic central sleep apnea. After initial improvement following surgery there was recurrence of brain-stem compression. The only clinical expression of which was polysomnographically evident recurrence of sleep apnea. PMID:10947031
Zolty, P; Sanders, M H; Pollack, I F
An update on the pathogenesis of syringomyelia secondary to Chiari-like malformations in dogs.
Syringomyelia (SM) is a spinal cord disease that can cause neuropathic pain in dogs. The pathogenesis of SM secondary to Chiari-like malformation (CM) has been the focus of intense research in recent years. The gulf in our understanding of CM/SM in dogs relative to the analogous human condition has progressively narrowed. CM is primarily a disease of abnormal geometric morphometry affecting the caudal cranial fossa and the brain parenchyma contained within it. This review describes how advanced imaging techniques have revealed a series of morphometric abnormalities associated with CM/SM. The series is presented in a logical order to help describe the pathogenesis of CM and the subsequent formation of syringes, with particular reference to the concepts of craniospinal compliance and cerebrospinal fluid pulse pressure timing. PMID:23938004
Driver, C J; Volk, H A; Rusbridge, C; Van Ham, L M
Sleep Disordered Breathing in Children and Adolescents with Chiari Malformation Type I
Study Objectives: Chiari malformation Type I (CM-I) has been associated with sleep disordered breathing (SDB). The aim of this study was to evaluate the prevalence of SDB in CM-I and its clinical correlates in a population of children and adolescents. Methods: Fifty-three consecutive children and adolescents affected by CM-I were enrolled (27 girls and 26 boys, mean age 10.3 � 4.3, range: 3-18 years). All patients underwent neurological examination, MRI, and polysomnography (PSG). Otorhinolaryngologic clinical evaluation was performed in patients with polysomnographic evidence of sleep-related upper airway obstruction. Results: Mean size of the herniation was 9.5 � 5.4 mm. Fourteen patients had syringomyelia, 5 had hydrocephalus, 31 presented neurological signs, 14 had epileptic seizures, and 7 reported poor sleep. PSG revealed SDB in 13 subjects. Patients with SDB, compared to those without SDB, had a higher prevalence hydrocephalus (p = 0.002), syringomyelia (p = 0.001), and neurological symptoms (p = 0.028). No significant difference was observed in age, gender, prevalence of epilepsy, and size of the herniation. Obstructive SDB was associated with syringomyelia (p = 0.004), whereas central SDB was associated with hydrocephalus (p = 0.034). Conclusions: In our population of CM-I patients the prevalence of SDB was 24%, lower than that reported in literature. Moreover, our findings suggest that abnormalities in cerebrospinal fluid dynamics in CM-I, particularly syringomyelia and hydro-cephalus, are associated with SDB. Citation: Losurdo A; Dittoni S; Testani E; Di Blasi C; Scarano E; Mariotti P; Paternoster G; Di Rocco C; Massimi L; Della Marca G. Sleep disordered breathing in children and adolescents with Chiari malformation Type I. J Clin Sleep Med 2013;9(4):371-377.
Losurdo, Anna; Dittoni, Serena; Testani, Elisa; Di Blasi, Chiara; Scarano, Emanuele; Mariotti, Paolo; Paternoster, Giovanna; Di Rocco, Concezio; Massimi, Luca; Della Marca, Giacomo
... waves, and computer technology to produce very good pictures of internal body parts, such as the brain and spinal cord . It can help to determine ... safe. Computed tomography (CT or CAT) scans produce pictures of ... much of the brain is out of place. Brainstem auditory evoked response ( ...
... an opening in the back. This can cause partial or complete paralysis below the spinal opening. Type III is the most serious form of CM, and causes severe neurological defects. Other conditions sometimes associated with CM include hydrocephalus, ...
... the following diagnostic tests: An X- ray uses electromagnetic energy to produce images of bones and certain ... MRI uses radio waves and a powerful magnetic field to produce either a detailed three-dimensional picture ...
Improvement of obstructive sleep apneas caused by hydrocephalus associated with Chiari malformation Type II following surgery.
Chiari malformation (CM) is the downward herniation of the caudal part of the cerebellum and/or medulla oblongata into the spinal canal. It can alter several neurological functions, including respiratory control and upper airway motility, and can be the cause of sleep-disordered breathing (SDB). The authors describe a 6-year-old boy affected by CM Type II associated with myelomeningocele who showed symptoms indicative of severe airway obstruction during sleep. Polysomnography revealed severe obstructive sleep apnea syndrome (OSAS). Magnetic resonance imaging demonstrated herniation of the cerebellar tonsils and diffuse ventricular dilation with a large pseudocystic formation in the third ventricle. Surgical marsupialization of the cystic wall was performed, associated with ventriculocystostomy and endoscopic replacement of the ventricular catheter. Polysomnography repeated 2 months after surgery revealed a striking improvement in the sleep-related respiratory pattern. The pathogenesis of OSAS was probably referable to a combination of CM and elevated intracranial pressure. However, the striking improvement of symptoms after ventriculoatrial shunt placement suggested that hydrocephalus plays a major role in this condition. Assessment and effective treatment of SDB is crucial in the care of patients with CM. PMID:20887105
Luigetti, Marco; Losurdo, Anna; Dittoni, Serena; Testani, Elisa; Colicchio, Salvatore; Gnoni, Valentina; Farina, Benedetto; Scarano, Emanuele; Zampino, Giuseppe; Mariotti, Paolo; Rendeli, Claudia; Di Rocco, Concezio; Massimi, Luca; Della Marca, Giacomo
Atypical Cerebellar Slump Syndrome and External Hydrocephalus following Craniocervical Decompression for Chiari I Malformation: Case Report.
Symptomatic cerebellar slump (CS) and external hydrocephalus (EH) are amongst the rarer complications of foramen magnum decompression (FMD) for Chiari I malformation (CM). CS typically presents with delayed onset headache related to dural traction or with neurological deficit offsetting the benefit of FMD. EH, consisting of ventriculomegaly along with subdural fluid collection(s) (SFCs), has been related to cerebrospinal fluid egress from a tiny breach in an otherwise intact arachnoid. We describe the case of a 21-year-old man with CM and syringomyelia who presented with impaired gag, spastic quadriparesis, and raised intracranial pressure 1 week following an uneventful FMD during which the arachnoid had been widely fenestrated. Magnetic resonance imaging (MRI) showed an infratentorial SFC, dilated aqueduct and triventriculomegaly, features of CS, and a residual but resolving syrinx. His symptoms resolved following a high pressure ventriculo-peritoneal shunt. At a 6-month follow-up visit, he was asymptomatic and demonstrated partial resolution of the syrinx, with no recurrence of the SFC. The unusual features in the clinical course of this patient were an atypical CS syndrome presenting with concomitantly resolving syringomyelia, and the development of EH after a wide arachnoidal fenestration. This is the first case in indexed literature describing such a combination of unusual postoperative complications of a FMD. A hypothesis is presented to explain the clinico-radiological findings of the case. PMID:24257499
Thakar, Sumit; Dadlani, Ravi; Tawari, Manish; Hegde, Alangar S
Identification of Chiari Type I Malformation subtypes using whole genome expression profiles and cranial base morphometrics
Background Chiari Type I Malformation (CMI) is characterized by herniation of the cerebellar tonsils through the foramen magnum at the base of the skull, resulting in significant neurologic morbidity. As CMI patients display a high degree of clinical variability and multiple mechanisms have been proposed for tonsillar herniation, it is hypothesized that this heterogeneous disorder is due to multiple genetic and environmental factors. The purpose of the present study was to gain a better understanding of what factors contribute to this heterogeneity by using an unsupervised statistical approach to define disease subtypes within a case-only pediatric population. Methods A collection of forty-four pediatric CMI patients were ascertained to identify disease subtypes using whole genome expression profiles generated from patient blood and dura mater tissue samples, and radiological data consisting of posterior fossa (PF) morphometrics. Sparse k-means clustering and an extension to accommodate multiple data sources were used to cluster patients into more homogeneous groups using biological and radiological data both individually and collectively. Results All clustering analyses resulted in the significant identification of patient classes, with the pure biological classes derived from patient blood and dura mater samples demonstrating the strongest evidence. Those patient classes were further characterized by identifying enriched biological pathways, as well as correlated cranial base morphological and clinical traits. Conclusions Our results implicate several strong biological candidates warranting further investigation from the dura expression analysis and also identified a blood gene expression profile corresponding to a global down-regulation in protein synthesis.
Computational fluid dynamics modelling of cerebrospinal fluid pressure in Chiari malformation and syringomyelia.
The pathogenesis of syringomyelia in association with Chiari malformation (CM) is unclear. Studies of patients with CM have shown alterations in the CSF velocity profile and these could contribute to syrinx development or enlargement. Few studies have considered the fluid mechanics of CM patients with and without syringomyelia separately. Three subject-specific CFD models were developed for a normal participant, a CM patient with syringomyelia and a CM patient without syringomyelia. Model geometries, CSF flow rate data and CSF velocity validation data were collected from MRI scans of the 3 subjects. The predicted peak CSF pressure was compared for the 3 models. An extension of the study performed geometry and flow substitution to investigate the relative effects of anatomy and CSF flow profile on resulting spinal CSF pressure. Based on 50 monitoring locations for each of the models, the CM models had significantly higher magnitude (p<0.01) peak CSF pressure compared with normal. When using the same CSF input flow waveform, changing the upper spinal geometry changed the magnitude of the CSF pressure gradient, and when using the same upper spinal geometry, changing the input flow waveform changed the timing of the peak pressure. This study may assist in understanding syringomyelia mechanisms and relative effects of CSF velocity profile and spinal geometry on CSF pressure. PMID:23769174
Clarke, Elizabeth C; Fletcher, David F; Stoodley, Marcus A; Bilston, Lynne E
Congenital stridor in the context of Chiari malformation type II: the etiological role of vernix caseosa granulomatous meningitis.
The authors describe the case of a late preterm infant girl who presented prenatally with a low lumbar neural tube defect and features of Chiari malformation type II (CM-II). At birth, she exhibited stridor and underwent surgical repair of a lumbosacral myelomeningocele on Day 2 of life. The prognosis was deemed to be poor, and hence a "Chiari decompression" procedure was not undertaken. The patient was subsequently extubated and died on Day 10. Postmortem findings included a rarely described but characteristic granulomatous meningitic reaction to vernix caseosa, which presumably entered the subarachnoid space and spinal cord syrinx antenatally via the open neural tube defect. The significance of congenital stridor in the context of CM-II and in particular the role of vernix caseosa granulomatous meningitis are examined. The antenatal repair of myelomeningoceles, as championed by some, may prevent this ominous meningitic complication. PMID:21961543
Stritzke, Amelie I; Dunham, Christopher P; Smyth, John A; Steinbok, Paul
Normalization of hindbrain morphology after decompression of Chiari malformation Type I
Object Chiari malformation Type I (CM-I) is characterized by hindbrain deformity. We investigated the effects of craniocervical decompression surgery on the anatomical features of hindbrain deformity with a prospective MRI study of patients with CM-I. Methods A prospective longitudinal study was conducted in 48 patients with CM-I (39 with syringomyelia) treated with craniocervical decompression. Clinical examinations and cervical MRI were performed before surgery and 1 week, 3�6 months, and annually after surgery. Hindbrain deformity was defined by tonsillar ectopia, pointed cerebellar tonsils, and/or cervicomedullary protuberance. The length of the clivus, basiocciput (sphenooccipital synchondrosis to basion), supraocciput (internal occipital protuberance to opisthion), and anteroposterior (AP) width of CSF pathways at the foramen magnum were measured and compared with those from 18 healthy volunteers (control group). Results Before surgery, the patients� posterior fossa bones were short and their CSF pathways were narrow. All patients had tonsillar ectopia (mean [� SD] 12.3 � 5.1 mm; normal 0.3 � 1.0). The majority of patients had pointed tonsils and more than two-thirds exhibited a cervicomedullary protuberance. Clivus and basiocciput lengths were significantly shorter than the values obtained in the control group. However, the supraocciput length did not differ significantly from control measurements. The mean bulbopontine sulcus distance superior to the basion was 9.5 � 2.6 mm (vs 13.6 � 2.8 mm in controls; p < 0.0001). The AP widths of the CSF pathways at the level of the foramen magnum were significantly narrowed. After surgery, CSF pathways significantly expanded both ventrally and dorsally. By 3�6 months after surgery, pointed tonsils became round, cervicomedullary protuberance disappeared, and tonsillar ectopia diminished by 51% (to 6.0 � 3.3 mm; p < 0.0001). Conclusions The cerebellar tonsils and brainstem assumed a normal appearance within 6 months after craniocervical decompression. These findings support the concept that the CM-I is not a congenital malformation of the neural elements but rather an acquired malformation that arises from pulsatile impaction of the cerebellar tonsils into the foramen magnum. Clinical trial registration no.: NCT00001327.
Heiss, John D.; Suffredini, Giancarlo; Bakhtian, Kamran D.; Sarntinoranont, Malisa; Oldfield, Edward H.
Pathogenesis of the Arnold-Chiari malformation: the significance of hydrocephalus and aqueduct stenosis.
In 24 cases of spina bifida, correlations were made comparing the degree of hydrocephalus with the cross-sectional area of the supratentorial compartment, posterior fossa, hindbrain prolapse, size of myelocele, and degree of fibrovascular reaction at the base of the brain. The size and postion of the aqueduct and fourth ventricle were compared with the degree of hydrocephalus. The results demonstrate that the aqueduct stenosis is usually due to external compression of the mesencephalon. The results also suggest that the size of the posterior fossa and hindbrain prolapse are secondary to hydrocephalus. It is postulated that the hydrocephalic process may be initiated by fibrovascular occlusion of the basal subarachnoid space. PMID:619008
Masters, C L
Diagnosis and surgical treatment of a Chiari I-like malformation in an African lion (Panthera leo).
A 13-mo-old intact male African lion (Panthera leo) presented with a 3-mo history of lethargy, ventral flexion of the neck, abnormal vocalization, and ataxia. Hemogram and serum biochemistries were within normal limits except for the presence of hypokalemia (2.7 mEq/L) and hypochloridemia (108 mEq/L). When no improvement was noted with oral potassium gluconate supplementation, a computed tomography scan of the brain and skull was performed, and no abnormalities were noted. However, magnetic resonance imaging detected occipital bone thickening, crowding of the caudal cranial fossa with cerebellar compression and herniation, and cervical syringohydromyelia, which was consistent with a Chiari I-like malformation. Foramen magnum decompression was performed to relieve the compression of the cerebellum. The animal recovered well with subsequent resolution of clinical signs. Hypovitaminosis A has been proposed previously as the underlying etiology for this malformation in lions with similar clinical presentations. This lion's serum and liver vitamin A concentrations were low (100 ng/ml and 25.31 microg/g, respectively) compared to concentrations reported for domestic carnivores and support hypovitaminosis A as the underlying cause of this animal's Chiari I-like malformation. PMID:18817006
McCain, Stephanie; Souza, Marcy; Ramsay, Ed; Schumacher, Juergen; Hecht, Silke; Thomas, William
Volumetric analysis of syringomyelia following hindbrain decompression for Chiari malformation Type I: syringomyelia resolution follows exponential kinetics
Object Resolution of syringomyelia is common following hindbrain decompression for Chiari malformation, yet little is known about the kinetics governing this process. The authors sought to establish the volumetric rate of syringomyelia resolution. Methods A retrospective cohort of patients undergoing hindbrain decompression for a Chiari malformation Type I with preoperative cervical or thoracic syringomyelia was identified. Patients were included in the study if they had at least 3 neuroimaging studies that detailed the entirety of their preoperative syringomyelia over a minimum of 6 months postoperatively. The authors reconstructed the MR images in 3 dimensions and calculated the volume of the syringomyelia. They plotted the syringomyelia volume over time and constructed regression models using the method of least squares. The Akaike information criterion and Bayesian information criterion were used to calculate the relative goodness of fit. The coefficients of determination R2 (unadjusted and adjusted) were calculated to describe the proportion of variability in each individual data set accounted for by the statistical model. Results Two patients were identified as meeting inclusion criteria. Plots of the least-squares best fit were identified as 4.01459e?0.0180804x and 13.2556e?0.00615859x. Decay of the syringomyelia followed an exponential model in both patients (R2 = 0.989582 and 0.948864). Conclusions Three-dimensional analysis of syringomyelia resolution over time enables the kinetics to be estimated. This technique is yet to be validated in a large cohort. Because syringomyelia is the final common pathway for a number of different pathological processes, it is possible that this exponential only applies to syringomyelia related to treatment of Chiari malformation Type I.
Coumans, Jean-Valery; Walcott, Brian P.; Butler, William E.; Nahed, Brian V.; Kahle, Kristopher T.
Task-Specific and General Cognitive Effects in Chiari Malformation Type I
Objective Our objective was to use episodic memory and executive function tests to determine whether or not Chiari Malformation Type I (CM) patients experience cognitive dysfunction. Background CM is a neurological syndrome in which the cerebellum descends into the cervical spine causing neural compression, severe headaches, neck pain, and number of other physical symptoms. While primarily a disorder of the cervico-medullary junction, both clinicians and researchers have suspected deficits in higher-level cognitive function. Design and Methods We tested 24 CM patients who had undergone decompression neurosurgery and 24 age- and education-matched controls on measures of immediate and delayed episodic memory, as well as three measures of executive function. Results The CM group showed performance decrements relative to the controls in response inhibition (Stroop interference), working memory computational speed (Ospan), and processing speed (automated digit symbol substitution task), but group differences in recall did not reach statistical significance. After statistical control for depression and anxiety scores, the group effects for working memory and processing speed were eliminated, but not for response inhibition. This response inhibition difference was not due to overall general slowing for the CM group, either, because when controls' data were transformed using the linear function fit to all of the reaction time tasks, the interaction with group remained statistically significant. Furthermore, there was a multivariate group effect for all of the response time measures and immediate and delayed recall after statistical control of depression and anxiety scores. Conclusion These results suggest that CM patients with decompression surgery exhibit cognitive dysfunction compared to age- and education-matched controls. While some of these results may be related to anxiety and depression (likely proxies for chronic pain), response inhibition effects, in particular, as well as a general cognitive deficit persisted even after control for anxiety and decompression.
Allen, Philip A.; Houston, James R.; Pollock, Joshua W.; Buzzelli, Christopher; Li, Xuan; Harrington, A. Katherine; Martin, Bryn A.; Loth, Francis; Lien, Mei-Ching; Maleki, Jahangir; Luciano, Mark G.
Chiari Malformation Type I: A Case-Control Association Study of 58 Developmental Genes
Chiari malformation type I (CMI) is a disorder characterized by hindbrain overcrowding into an underdeveloped posterior cranial fossa (PCF), often causing progressive neurological symptoms. The etiology of CMI remains unclear and is most likely multifactorial. A putative genetic contribution to CMI is suggested by familial aggregation and twin studies. Experimental models and human morphometric studies have suggested an underlying paraxial mesoderm insufficiency. We performed a case-control association study of 303 tag single nucleotide polymorphisms (SNP) across 58 candidate genes involved in early paraxial mesoderm development in a sample of 415 CMI patients and 524 sex-matched controls. A subgroup of patients diagnosed with classical, small-PCF CMI by means of MRI-based PCF morphometry (n?=?186), underwent additional analysis. The genes selected are involved in signalling gradients occurring during segmental patterning of the occipital somites (FGF8, Wnt, and retinoic acid pathways and from bone morphogenetic proteins or BMP, Notch, Cdx and Hox pathways) or in placental angiogenesis, sclerotome development or CMI-associated syndromes. Single-marker analysis identified nominal associations with 18 SNPs in 14 genes (CDX1, FLT1, RARG, NKD2, MSGN1, RBPJ1, FGFR1, RDH10, NOG, RARA, LFNG, KDR, ALDH1A2, BMPR1A) considering the whole CMI sample. None of these overcame corrections for multiple comparisons, in contrast with four SNPs in CDX1, FLT1 and ALDH1A2 in the classical CMI group. Multiple marker analysis identified a risk haplotype for classical CMI in ALDH1A2 and CDX1. Furthermore, we analyzed the possible contributions of the most significantly associated SNPs to different PCF morphometric traits. These findings suggest that common variants in genes involved in somitogenesis and fetal vascular development may confer susceptibility to CMI.
Urbizu, Aintzane; Toma, Claudio; Poca, Maria A.; Sahuquillo, Juan; Cuenca-Leon, Ester; Cormand, Bru; Macaya, Alfons
Rapidly progressing monoparesis caused by Chiari malformation type I without syringomyelia
Background: Patients with Chiari malformation type I (CM-I) can manifest neurological symptoms, such as headache, neck pain, dysesthesia, swallowing disturbance, and paresis, which are usually stable or slowly progressive even if syringomyelia is coexistent. In some instances, however, acute onset of neurological symptoms has been reported but the pathogenetic mechanism and subsequent clinical course have not been explained. In those cases, it was reported that urgent treatment of foramen magnum decompression (FMD) was very effective. This work reports that an 11-year-old girl with CM-I subacutely developed unique symptoms and that urgent treatment of FMD was very effective. Case Description: We present here an 11-year-old girl with CM-I who subacutely developed dysphagia, left upper extremity monoparesis and sensory dysesthesia, with the limb assuming a peculiar posture at rest, with the wrist in extension and the elbow joint in flexion. Although her symptoms were assumed to be due to previously diagnosed CM-I without syringomyelia, no differences on magnetic resonance imaging (MRI) could be found except for slight change in the shape of tonsils compared with the previous ones. FMD and C1 removal with duraplasty was performed and resulted in an excellent neurological recovery. Conclusion: This case is a reminder that the presence of a new neurological deficit referable to nuclei within, or tracts that traverse, the cerebromedullary junction is a firm surgical indication for FMD in a patient with CM-I. MRI was nearly identical during the asymptomatic and symptomatic periods in this case, and did not explain the timing of symptom onset.
Oishi, Masahiro; Hayashi, Yasuhiko; Kita, Daisuke; Fukui, Issei; Shinohara, Moeko; Heiss, John D.; Hamada, Jun-ichiro
Resolution of cervical syringomyelia after transoral odontoidectomy and occipitocervical fusion in a patient with basilar invagination and Type I Chiari malformation.
We present a 16-year-old male patient with Marfan's syndrome who presented with quadriparesis from a Type I Chiari malformation (CM) with basilar invagination and a syrinx. The condition resolved after transoral odontoidectomy and occipitocervical fusion without posterior decompression of the CM. Thus, ventral decompression alone can resolve a cervical syrinx in patients with compression of the foramen magnum. PMID:22989794
Dickman, Curtis A; Kalani, M Yashar S
Current Opinions for the Treatment of Syringomyelia and Chiari Malformations: Survey of the Pediatric Section of the American Association of Neurological Surgeons
Introduction: A variety of surgical interventions have been recommended for patients with syringomyelia and Chiari malformation. To obtain a better understanding of currently used management strategies and surgical interventions, this study evaluates current opinions in the treatment of these entities. Methods: Members of the Pediatric Section of the American Association of Neurological Surgeons (AANS) were surveyed in July of 1998.
Raymond I. Haroun; Michael Guarnieri; Jeffery J. Meadow; Michael Kraut; Benjamin S. Carson
Clinical, radiological, and genetic similarities between patients with Chiari Type I and Type 0 malformations
Object Although Chiari Type I (CM-I) and Type 0 (CM-0) malformations have been previously characterized clinically and radiologically, there have been no studies focusing on the possible genetic link between these disorders. The goal of this study was to identify families in whom CM-0 and CM-I co-occurred and to further assess the similarities between these disorders. Methods Families were ascertained through a proband with CM-I. Detailed family histories were obtained to identify first-degree relatives diagnosed with CM-0. Several criteria were used to exclude individuals with acquired forms of CM-I and/or syringomyelia. Individuals were excluded with syndromic, traumatic, infectious, or tumor-related syringomyelia, as well as CM-I due to a supratentorial mass, hydrocephalus, history of cervical or cranial surgery unrelated to CM-I, or development of symptoms following placement of a lumbar shunt. Medical records and MR images were used to characterize CM-I and CM-0 individuals clinically and radiologically. Results Five families were identified in which the CM-I proband had a first-degree relative with CM-0. Further assessment of affected individuals showed similar clinical and radiological features between CM-0 and CM-I individuals, although CM-I patients in general had more severe symptoms and skull base abnormalities than their CM-0 relatives. Overall, both groups showed improvement in symptoms and/or syrinx size following craniocervical decompression surgery. Conclusions There is accumulating evidence suggesting that CM-0 and CM-I may be caused by a common underlying developmental mechanism. The data in this study are consistent with this hypothesis, showing similar clinical and radiological features between CM-0 and CM-I individuals, as well as the occurrence of both disorders within families. Familial clustering of CM-0 and CM-I suggests that these disorders may share an underlying genetic basis, although additional epigenetic and/or environmental factors are likely to play an important role in the development of CM-0 versus CM-I.
Markunas, Christina A.; Tubbs, R. Shane; Moftakhar, Roham; Ashley-Koch, Allison E.; Gregory, Simon G.; Oakes, W. Jerry; Speer, Marcy C.; Iskandar, Bermans J.
Outcome following hindbrain decompression of symptomatic Chiari malformations in children previously treated with myelomeningocele closure and shunts.
Between 1975 and 1989, 25 children treated with myelomeningocele closure and shunting for hydrocephalus at the Children's Hospital of Pittsburgh developed progressive lower brain-stem dysfunction from their Chiari malformation. Retrospective univariate and multivariate analyses of these cases were undertaken to assess the relationship between preoperative clinical factors and postoperative outcome. Since earlier reports have suggested that neonates with symptomatic Chiari malformations show a less favorable response than older children to craniocervical decompression, particular attention was directed at examining the effect of age on preoperative symptoms and postoperative outcome. Patients were subdivided by age into two groups, namely: 13 patients who became symptomatic before 2 months of age (neonatal group) and 12 older infants and children who developed initial symptoms between 6 months and 10 years of age. Once symptoms developed, patients in both groups deteriorated progressively until brain-stem decompression was performed. The mode of presentation and the rate and extent of neurological deterioration differed substantially in the two groups. Whereas the neonates typically showed rapid neurological deterioration and often manifested profound brain-stem dysfunction within a period of several days, the older patients experienced a more insidious symptom progression and rarely demonstrated the severe degree of impairment seen in the neonates. All patients underwent suboccipital craniectomy, cervical laminectomy, and dural decompression. A shunt from the fourth ventricle and/or syrinx to the subarachnoid space was placed in those with significant syringomyelia. Following surgery, 17 patients had complete or nearly complete resolution of all signs of brain-stem compression, three had mild to moderate residual deficits, and five showed no improvement. Outcome correlated closely with the preoperative neurological status. In particular, the presence of bilateral vocal cord paralysis was associated with a poor response to surgery (p < 0.001 on both univariate and multivariate analyses). Of the six patients (all neonates) who progressed to complete bilateral vocal cord paralysis before surgery, only one improved. In contrast, all patients with less profound but nonetheless severe deficits recovered function postoperatively. Although the neonates as a group had a poorer outcome than did the older patients (p = 0.02 on univariate analysis), this in large part reflected their more severe preoperative impairments; neonates who still had some preservation of vocal cord function before surgery subsequently did as well as the older patients. Accordingly, age did not prove to be an independent prognostic factor on multivariate analysis. Taken together, these results indicate that, in most patients with symptomatic Chiari II malformations (including neonates), neurological deficits are potentially reversible if hindbrain decompression is performed expeditiously. PMID:1432130
Pollack, I F; Pang, D; Albright, A L; Krieger, D
Dimensions of the posterior fossa in patients symptomatic for Chiari I malformation but without cerebellar tonsillar descent
Background Chiari I malformation (CMI) is diagnosed by rigid radiographic criteria along with appropriate clinical symptomatology. The aim of this study was to investigate the dimensions of the posterior cranial fossa in patients without significant tonsillar descent but with symptoms comparable to CMI. Methods Twenty-two patients with signs and symptoms comparable to CMI but without accepted radiographic criteria of tonsillar descent > 3�5 mm were referred to our clinic for evaluation. A history and physical examination were performed on all patients. In reviewing their MRI scans, nine morphometric measurements were recorded. The measurements were compared to measurements from a cohort of twenty-five individuals with cranial neuralgias from our practice. Results For patients with Chiari-like symptomatology, the following statistically significant abnormalities were identified: reduced length of the clivus, reduced length of basisphenoid, reduced length of basiocciput, and increased angle of the tentorium. Multiple morphometric studies have demonstrated similar findings in CMI. Conclusion The current classification of CMI is likely too restrictive. Preliminary morphologic data suggests that a subgroup of patients exists with tonsillar descent less than 3 mm below the foramen magnum but with congenitally hypoplastic posterior fossa causing symptomatology consistent with CMI.
Sekula, Raymond F; Jannetta, Peter J; Casey, Kenneth F; Marchan, Edward M; Sekula, L Kathleen; McCrady, Christine S
Resolution of syndromic craniosynostosis-associated Chiari malformation Type I without suboccipital decompression after posterior cranial vault release.
Chiari malformation Type I (CM-I) is associated with syndromic and nonsyndromic craniosynostosis in pediatric patients, and the surgical management of CM-I in such cases is controversial. Previous guidelines have recommended simultaneous cranial vault expansion and suboccipital decompression. However, spontaneous resolution of CM-I has been observed, and the combined procedure carries additional surgical risks. The authors report the case of a 6-month-old boy with Crouzon syndrome, CM-I, and a cervical syrinx who underwent posterior cranial vault release without suboccipital decompression. Imaging at the 3-month follow-up visit demonstrated complete resolution of the CM-I, improvement in CSF flow, and reduction in the size of the syrinx. This case suggests that up-front suboccipital decompression may not be necessary in patients with craniosynostosis and CM-I. A strategy of initial cranial vault release, followed by watchful waiting and radiographic surveillance, is proposed. PMID:22295912
Levitt, Michael R; Niazi, Toba N; Hopper, Richard A; Ellenbogen, Richard G; Ojemann, Jeffrey G
Spontaneous resolution of syrinx: report of two cases in adults with Chiari malformation.
Idiopathic syringomyelia is a disease with variable clinical course. We report here two cases of spontaneous resolution of cervical syrinx in adults previously diagnosed of Chiari-syringomyelia complex. They are added to the nine cases previously reported, and documented the need for careful surgical indication in this disease based on the radiological images of spinal cord cavitation. PMID:21710125
Vaquero, Jes�s; Ferreira, Edgar; Paraj�n, Avelino
Quantitative Trait Loci (QTL) Study Identifies Novel Genomic Regions Associated to Chiari-Like Malformation in Griffon Bruxellois Dogs
Chiari-like malformation (CM) is a developmental abnormality of the craniocervical junction that is common in the Griffon Bruxellois (GB) breed with an estimated prevalence of 65%. This disease is characterized by overcrowding of the neural parenchyma at the craniocervical junction and disturbance of cerebrospinal fluid (CSF) flow. The most common clinical sign is pain either as a direct consequence of CM or neuropathic pain as a consequence of secondary syringomyelia. The etiology of CM remains unknown but genetic factors play an important role. To investigate the genetic complexity of the disease, a quantitative trait locus (QTL) approach was adopted. A total of 14 quantitative skull and atlas measurements were taken and were tested for association to CM. Six traits were found to be associated to CM and were subjected to a whole-genome association study using the Illumina canine high density bead chip in 74 GB dogs (50 affected and 24 controls). Linear and mixed regression analyses identified associated single nucleotide polymorphisms (SNPs) on 5 Canis Familiaris Autosomes (CFAs): CFA2, CFA9, CFA12, CFA14 and CFA24. A reconstructed haplotype of 0.53 Mb on CFA2 strongly associated to the height of the cranial fossa (diameter F) and an haplotype of 2.5 Mb on CFA14 associated to both the height of the rostral part of the caudal cranial fossa (AE) and the height of the brain (FG) were significantly associated to CM after 10 000 permutations strengthening their candidacy for this disease (P?=?0.0421, P?=?0.0094 respectively). The CFA2 QTL harbours the Sall-1 gene which is an excellent candidate since its orthologue in humans is mutated in Townes-Brocks syndrome which has previously been associated to Chiari malformation I. Our study demonstrates the implication of multiple traits in the etiology of CM and has successfully identified two new QTL associated to CM and a potential candidate gene.
Lemay, Philippe; Knowler, Susan P.; Bouasker, Samir; Nedelec, Yohann; Platt, Simon; Freeman, Courtenay; Child, Georgina; Barreiro, Luis B.; Rouleau, Guy A.; Rusbridge, Clare; Kibar, Zoha
Quantitative trait loci (QTL) study identifies novel genomic regions associated to Chiari-like malformation in Griffon Bruxellois dogs.
Chiari-like malformation (CM) is a developmental abnormality of the craniocervical junction that is common in the Griffon Bruxellois (GB) breed with an estimated prevalence of 65%. This disease is characterized by overcrowding of the neural parenchyma at the craniocervical junction and disturbance of cerebrospinal fluid (CSF) flow. The most common clinical sign is pain either as a direct consequence of CM or neuropathic pain as a consequence of secondary syringomyelia. The etiology of CM remains unknown but genetic factors play an important role. To investigate the genetic complexity of the disease, a quantitative trait locus (QTL) approach was adopted. A total of 14 quantitative skull and atlas measurements were taken and were tested for association to CM. Six traits were found to be associated to CM and were subjected to a whole-genome association study using the Illumina canine high density bead chip in 74 GB dogs (50 affected and 24 controls). Linear and mixed regression analyses identified associated single nucleotide polymorphisms (SNPs) on 5 Canis Familiaris Autosomes (CFAs): CFA2, CFA9, CFA12, CFA14 and CFA24. A reconstructed haplotype of 0.53 Mb on CFA2 strongly associated to the height of the cranial fossa (diameter F) and an haplotype of 2.5 Mb on CFA14 associated to both the height of the rostral part of the caudal cranial fossa (AE) and the height of the brain (FG) were significantly associated to CM after 10 000 permutations strengthening their candidacy for this disease (P?=?0.0421, P?=?0.0094 respectively). The CFA2 QTL harbours the Sall-1 gene which is an excellent candidate since its orthologue in humans is mutated in Townes-Brocks syndrome which has previously been associated to Chiari malformation I. Our study demonstrates the implication of multiple traits in the etiology of CM and has successfully identified two new QTL associated to CM and a potential candidate gene. PMID:24740420
Lemay, Philippe; Knowler, Susan P; Bouasker, Samir; N�d�lec, Yohann; Platt, Simon; Freeman, Courtenay; Child, Georgina; Barreiro, Luis B; Rouleau, Guy A; Rusbridge, Clare; Kibar, Zoha
Changes over time in craniocerebral morphology and syringomyelia in cavalier King Charles spaniels with Chiari-like malformation
Background Chiari-like malformation (CM) and syringomyelia is a neurological disease complex with high prevalence in cavalier King Charles spaniels (CKCS). The natural progression of this disease with time has not been described. The objectives of this study were to i) determine if syringomyelia progresses with time ii) determine if features of craniocrebral morphology previously associated with CM are progressive (including caudal cranial fossa volume, caudal cranial fossa parenchymal volume, ventricular dimensions, height of the foramen magnum and degree of cerebellar herniation). A retrospective morphometric analysis was undertaken in 12 CKCS with CM for which repeat magnetic resonance images were available without surgical intervention. Results The maximal syrinx width, height of the foramen magnum, length of cerebellar herniation and caudal cranial fossa volume increased over time. Ventricular and caudal fossa parenchymal volumes were not significantly different between scans. Conclusions The results of this study suggest that syringomyelia progresses with time. Increased caudal cranial fossa volume may be associated with active resorption of the supraoccipital bone, which has previously been found in histology specimens from adult CKCS. We hypothesise that active resorption of the supraoccipital bone occurs due to pressure from the cerebellum. These findings have important implications for our understanding of the pathogenesis and variable natural clinical progression of CM and syringomyelia in CKCS.
Hydrodynamic and longitudinal impedance analysis of cerebrospinal fluid dynamics at the craniovertebral junction in type I Chiari malformation.
Elevated or reduced velocity of cerebrospinal fluid (CSF) at the craniovertebral junction (CVJ) has been associated with type I Chiari malformation (CMI). Thus, quantification of hydrodynamic parameters that describe the CSF dynamics could help assess disease severity and surgical outcome. In this study, we describe the methodology to quantify CSF hydrodynamic parameters near the CVJ and upper cervical spine utilizing subject-specific computational fluid dynamics (CFD) simulations based on in vivo MRI measurements of flow and geometry. Hydrodynamic parameters were computed for a healthy subject and two CMI patients both pre- and post-decompression surgery to determine the differences between cases. For the first time, we present the methods to quantify longitudinal impedance (LI) to CSF motion, a subject-specific hydrodynamic parameter that may have value to help quantify the CSF flow blockage severity in CMI. In addition, the following hydrodynamic parameters were quantified for each case: maximum velocity in systole and diastole, Reynolds and Womersley number, and peak pressure drop during the CSF cardiac flow cycle. The following geometric parameters were quantified: cross-sectional area and hydraulic diameter of the spinal subarachnoid space (SAS). The mean values of the geometric parameters increased post-surgically for the CMI models, but remained smaller than the healthy volunteer. All hydrodynamic parameters, except pressure drop, decreased post-surgically for the CMI patients, but remained greater than in the healthy case. Peak pressure drop alterations were mixed. To our knowledge this study represents the first subject-specific CFD simulation of CMI decompression surgery and quantification of LI in the CSF space. Further study in a larger patient and control group is needed to determine if the presented geometric and/or hydrodynamic parameters are helpful for surgical planning. PMID:24130704
Martin, Bryn A; Kalata, Wojciech; Shaffer, Nicholas; Fischer, Paul; Luciano, Mark; Loth, Francis
Assessment of cerebellar pulsation in dogs with and without Chiari-like malformation and syringomyelia using cardiac-gated cine magnetic resonance imaging.
Canine Chiari-like malformation (CM) is characterised by herniation of part of the cerebellum through the foramen magnum. In humans with Chiari type I malformation (CM-I), abnormal pulsation of the cerebellum during the cardiac cycle has been documented and is pivotal to theories for the pathogenesis of syringomyelia (SM). In this retrospective study, cardiac-gated cine balanced fast field echo (bFEE) magnetic resonance imaging (MRI) was used to assess pulsation of the brain in dogs and to objectively measure the degree of cerebellar pulsation with the neck in a flexed position. Overall, 17 Cavalier King Charles Spaniels (CKCS) with CM, including eight with SM and nine without SM, were compared with six small breed control dogs. Linear regions of interest were generated for the length of cerebellar herniation from each phase of the cardiac cycle and the degree of cerebellar pulsation was subsequently calculated. Age, bodyweight and angle of neck flexion were also compared. CKCS with CM and SM had significantly greater pulsation of the cerebellum than control dogs (P=0.003) and CKCS with CM only (P=0.031). There was no significant difference in age, bodyweight and angle of neck flexion between the three groups. Cardiac-gated cine bFEE MRI permitted the dynamic visualisation of cerebellar pulsation in dogs. These findings support the current theories regarding the pathogenesis of SM secondary to CM and further highlight the similarities between canine CM and human CM-I. PMID:23770398
Driver, C J; Watts, V; Bunck, A C; Van Ham, L M; Volk, H A
Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome?
Rubinstein-Taybi Syndrome (RSTS, OMIM 180849) is a rare condition, which in 65% of cases is caused by haploinsufficiency of CREBBP (cAMP response element binding protein binding protein) localized to 16p13.3. A small subset of RSTS cases caused by 16p13.3 microdeletions involving neighboring genes have been recently suggested to be a true contiguous gene syndrome called severe RSTS or 16p13.3 deletion syndrome (OMIM 610543). In the present report, we describe a case of a 2-year-old female with RSTS who, besides most of the typical features of RSTS has corpus callosum dysgenesis and a Chiari type I malformation which required neurosurgical decompression. CGH microarray showed a approximately 520.7 kb microdeletion on 16p13.3 involving CREBBP, ADCY9, and SRL genes. We hypothesize that the manifestations in this patient might be influenced by the haploinsufficiency for ADCY9 and SRL. PMID:20101707
W�jcik, Cezary; Volz, Kim; Ranola, Maria; Kitch, Karla; Karim, Tariza; O'Neil, Joseph; Smith, Jodi; Torres-Martinez, Wilfredo
Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15.
Chiari type I malformation (CMI; OMIM 118420) is narrowly defined when the tonsils of the cerebellum extend below the foramen magnum, leading to a variety of neurological symptoms. It is widely thought that a small posterior fossa (PF) volume, relative to the total cranial volume leads to a cramped cerebellum and herniation of the tonsils into the top of the spinal column. In a collection of magnetic resonance imagings (MRIs) from affected individuals and their family members, we measured correlations between ten cranial morphologies and estimated their heritability in these families. Correlations between bones delineating the PF and significant heritability of PF volume (0.955, P = 0.003) support the cramped PF theory and a genetic basis for this condition. In a collection of 23 families with 71 affected individuals, we performed a genome wide linkage screen of over 10,000 SNPs across the genome to identify regions of linkage to CMI. Two-point LOD scores on chromosome 15 reached 3.3 and multipoint scores in this region identified a 13 cM region with LOD scores over 1 (15q21.1-22.3). This region contains a biologically plausible gene for CMI, fibrillin-1, which is a major gene in Marfan syndrome and has been linked to Shprintzen-Goldberg syndrome, of which CMI is a distinguishing characteristic. Multipoint LOD scores on chromosome 9 maximized at 3.05, identifying a 40 cM region with LOD scores over 1 (9q21.33-33.1) and a tighter region with multipoint LOD scores over 2 that was only 8.5 cM. This linkage evidence supports a genetic role in Chiari malformation and justifies further exploration with fine mapping and investigation of candidate genes in these regions. PMID:17103432
Boyles, Abee L; Enterline, David S; Hammock, Preston H; Siegel, Deborah G; Slifer, Susan H; Mehltretter, Lorraine; Gilbert, John R; Hu-Lince, Diane; Stephan, Dietrich; Batzdorf, Ulrich; Benzel, Edward; Ellenbogen, Richard; Green, Barth A; Kula, Roger; Menezes, Arnold; Mueller, Diane; Oro', John J; Iskandar, Bermans J; George, Timothy M; Milhorat, Thomas H; Speer, Marcy C
Evaluation of cerebrospinal fluid in Cavalier King Charles Spaniel dogs diagnosed with Chiari-like malformation with or without concurrent syringomyelia.
Syringomyelia is a common clinical problem in the Cavalier King Charles Spaniel dog population. The underlying pathophysiology of the development and progression of syringes is currently unknown. The primary aim of the current study was to determine whether development of syringomyelia is accompanied by alterations in cerebrospinal fluid composition. Patient records of Cavalier King Charles Spaniels with Chiari-like malformations, with or without concurrent syringomyelia, that had magnetic resonance imaging and cerebrospinal fluid analysis between December 2004 and December 2009, were retrospectively reviewed. Total nucleated cell count per microliter, with differential count, red blood cell count per microliter, and protein concentration (g/l), were reviewed. Data were analyzed with the Mann-Whitney U-test. Spearman rank test was used to test association between cerebrospinal fluid composition and syrinx size, and the Fisher exact test was used to compare the presence of macrophages, reactive lymphocytes, and myelin. A P value of ? 0.05 was considered significant for statistical tests. Dogs with syringomyelia had a higher total nucleated cell count (syringomyelia: 4/�l [range, 0-15/�l] vs. without syringomyelia: 2/�l [0-8/�l]; P ?=? 0.0047), higher protein concentration (syringomyelia: 0.26 g/l [0.07-0.42 g/l] vs. without syringomyelia: 0.2 g/l [0.12-0.39 g/l]; P ?=? 0.039), and an increased neutrophil percentage (syringomyelia: 0% [0-37%] vs. without syringomyelia: 0% [0-21%]; P ?=? 0.0203) than those with the Chiari-like malformation alone. There was a positive correlation between total nucleated cell count and syrinx size (r ?=? 0.51; P ?=? 0.0068). Development of syringomyelia is accompanied by alterations in cerebrospinal fluid composition. The pathogenesis of syringomyelia has not been fully elucidated; therefore, the exact origin of cerebrospinal fluid changes remains unclear. PMID:21398451
Whittaker, Danielle E; English, Kate; McGonnell, Imelda M; Volk, Holger A
Chiari Malformation: Treatment
... cerebri; elevated pressure in the brain basilar invagination; compression of the brainstem from the spine genetic disorders ... to ask for them. Pain Control While the data is not conclusive, there are indications that children ...
Cranial malformations in related white lions (Panthera leo krugeri).
White lions (Panthera leo krugeri) have never been common in the wild, and at present, the greatest population is kept in zoos where they are bred for biological and biodiversity conservation. During the years 2003 to 2008 in a zoological garden in northern Italy, 19 white lions were born to the same parents, who were in turn paternally consanguineous. Out of the 19 lions, 4 (21%) were stillborn, 13 (69%) died within 1 month, and 1 (5%) was euthanatized after 6 months because of difficulty with prehension of food. Six lions (32%) showed malformations involving the head (jaw, tongue, throat, teeth, and cranial bones). One lion (5%) still alive at 30 months revealed an Arnold-Chiari malformation upon submission for neurological evaluation of postural and gait abnormalities. Paternal consanguinity of the parents, along with inbreeding among white lions in general, could account for the high incidence of congenital malformations of the head in this pride of white lions. PMID:20826844
Scaglione, F E; Schr�der, C; Degiorgi, G; Zeira, O; Bollo, E
Stratified Whole Genome Linkage Analysis of Chiari Type I Malformation Implicates Known Klippel-Feil Syndrome Genes as Putative Disease Candidates
Chiari Type I Malformation (CMI) is characterized by displacement of the cerebellar tonsils below the base of the skull, resulting in significant neurologic morbidity. Although multiple lines of evidence support a genetic contribution to disease, no genes have been identified. We therefore conducted the largest whole genome linkage screen to date using 367 individuals from 66 families with at least two individuals presenting with nonsyndromic CMI with or without syringomyelia. Initial findings across all 66 families showed minimal evidence for linkage due to suspected genetic heterogeneity. In order to improve power to localize susceptibility genes, stratified linkage analyses were performed using clinical criteria to differentiate families based on etiologic factors. Families were stratified on the presence or absence of clinical features associated with connective tissue disorders (CTDs) since CMI and CTDs frequently co-occur and it has been proposed that CMI patients with CTDs represent a distinct class of patients with a different underlying disease mechanism. Stratified linkage analyses resulted in a marked increase in evidence of linkage to multiple genomic regions consistent with reduced genetic heterogeneity. Of particular interest were two regions (Chr8, Max LOD?=?3.04; Chr12, Max LOD?=?2.09) identified within the subset of �CTD-negative� families, both of which harbor growth differentiation factors (GDF6, GDF3) implicated in the development of Klippel-Feil syndrome (KFS). Interestingly, roughly 3�5% of CMI patients are diagnosed with KFS. In order to investigate the possibility that CMI and KFS are allelic, GDF3 and GDF6 were sequenced leading to the identification of a previously known KFS missense mutation and potential regulatory variants in GDF6. This study has demonstrated the value of reducing genetic heterogeneity by clinical stratification implicating several convincing biological candidates and further supporting the hypothesis that multiple, distinct mechanisms are responsible for CMI.
Markunas, Christina A.; Soldano, Karen; Dunlap, Kaitlyn; Cope, Heidi; Asiimwe, Edgar; Stajich, Jeffrey; Enterline, David; Grant, Gerald; Fuchs, Herbert
The need in dural graft suturing in Chiari I malformation decompression: A prospective, single-blind, randomized trial comparing sutured and sutureless duraplasty materials
Background: This study compared the use of two commonly utilized dural closure techniques used in augmentation duraplasty for Chiari malformation I (CM I) and evaluated their efficacy and outcome in terms of quality of life assessments. Methods: This prospective randomized study compared sutureless (DuraGen) and suturable (Dura-Guard) techniques in CM I decompression. Clinical parameters, cost analysis, and SF-36 Quality of Life Questionnaire (QLQ) were utilized to assess outcome. Results: Thirty-four patients were enrolled. Average age was 38.7 � 12.2 years (mean � SD (Standard Deviation)) and 82% of patients were female. Sixteen patients received DuraGen and 18 Dura-Guard. Age and gender were similar among groups. Postoperative complications did not differ between groups. Operative cost and time were less for DuraGen, whereas hospital stay was less with Dura-Guard, neither was statistically significant. Average QLQ scores at months 1, 2, and 3 improved in both groups. Dura-Guard patients showed greater improvement in quality of life at month 2 (P < 0.05) but groups did not differ at final survey. All patient's physical health (P < 0.005) and function (P < 0.005) were significantly improved. Outcome did not differ between groups and all patients showed significant improvement (P < 0.05). Conclusion: Both techniques are effective in reaching the goals of decompressive surgery for CM I and did not differ in quality of life at final survey. All patients showed significant improvement in physical function, physical health, and outcome following surgery. With all variables being equal the choice of duraplasty material may be based upon surgeon's preference.
Williams, Leena E.; Vannemreddy, Prasad S.; Watson, Karriem S.; Slavin, Konstantin V.
The Comparative Morphometric Study of the Posterior Cranial Fossa : What Is Effective Approaches to the Treatment of Chiari Malformation Type 1?
Objective The objective of this study was to investigate changes in the posterior cranial fossa in patients with symptomatic Chiari malformation type I (CMI) compared to a control group. Methods We retrospectively reviewed clinical and radiological data from 12 symptomatic patients with CMI and 24 healthy control subjects. The structures of the brain and skull base were investigated using magnetic resonance imaging. Results The length of the clivus had significantly decreased in the CMI group than in the control group (p=0.000). The angle between the clivus and the McRae line (p<0.024), as the angle between the supraocciput and the McRae line (p<0.021), and the angle between the tentorium and a line connecting the internal occipital protuberance to the opisthion (p<0.009) were significantly larger in the CMI group than in the control group. The mean vertical length of the cerebellar hemisphere (p<0.003) and the mean length of the coronal and sagittal superoinferior aspects of the cerebellum (p<0.05) were longer in the CMI group than in the control group, while the mean length of the axial anteroposterior aspect of the cerebellum (p<0.001) was significantly shorter in the CMI group relative to control subjects. Conclusion We elucidate the transformation of the posterior cranial fossa into the narrow funnel shape. The sufficient cephalocaudal extension of the craniectomy of the posterior cranial fossa has more decompression effect than other type extension of the craniectomy in CMI patients.
Hwang, Hyung Sik; Moon, Jae Gon; Kim, Chang Hyun; Oh, Sae-Moon; Song, Joon-Ho
Is curve direction correlated with the side of dominant displacement of cerebellar tonsil and syrinx deviation in thoracic scoliosis secondary to Chiari malformation type I and syringomyelia?
The patho-mechanism of scoliosis in patients with syringomyelia (SM) secondary to Chiari malformation type I (CMI) remains unknown up till now. In small sample studies published recently, there was an observation that curve direction tended to be on the same side as the dominant side of tonsillar displacement or the deviated side of syrinx location. Herein, a large-sample study of patients with single thoracic scoliosis secondary to CMI and SM was performed to validate these findings. The clinical and radiographic data of patients with scoliosis secondary to SM and CMI were reviewed. And patients who met the inclusion criteria were included. Based on the imaging presentation, the asymmetry of tonsillar displacement, syrinx location and scoliosis were judged by quantitative method. Then the imaging association among asymmetrically displaced tonsil, eccentrically located syrinx and curve direction were further analyzed. Thirty-nine patients with single thoracic scoliosis secondary to CMI and SM were included. 80% subjects showed concordance between the deviated side of eccentrically located syrinx and the dominant side of asymmetrically displaced tonsil. In 86% patients with asymmetrically displaced tonsil, thoracic curve was convex to the dominant side of tonsillar displacement. In 68% of patients with eccentrically located syrinx, the convex side of thoracic curve was on the same side as the deviated side of syrinx location. Asymmetrically displaced tonsils and eccentrically located syrinx are common imaging presentations in patients with SM secondary to CMI. The thoracic scoliosis in these patients was usually convex not only to the dominant side of asymmetrically displaced tonsils, but also to the side of eccentrically located syrinx, indicating that the asymmetry of tonsillar displacement and syrinx location might be involved in the regulation of curve direction. PMID:22744510
Wu, Tao; Zhu, Zezhang; Sun, Xu; Yan, Huang; Zheng, Xin; Qian, Bangping; Zhu, Feng; Chu, Winnie; Cheng, Jack C Y; Qiu, Yong
Increase in Cerebellar Volume in Cavalier King Charles Spaniels with Chiari-like Malformation and Its Role in the Development of Syringomyelia
Previous research in Cavalier King Charles Spaniels (CKCS) has found that Chiari-like malformation and syringomyelia (CM/SM) are associated with a volume mismatch between the caudal cranial fossa (CCF) and the brain parenchyma contained within. The objectives of this study were to i) compare cerebellar volume in CKCS (a �high risk� group which frequently develops CM/SM), small breed dogs (medium risk � occasionally develop CM/SM), and Labradors (low risk � CM/SM not reported); ii) evaluate a possible association between increased cerebellar volume and CM/SM in CKCS; iii) investigate the relationship between increased cerebellar volume and crowding of the cerebellum in the caudal part of the CCF (i.e. the region of the foramen magnum). Volumes of three-dimensional, magnetic resonance imaging derived models of the CCF and cerebellum were obtained from 75 CKCS, 44 small breed dogs, and 31 Labradors. As SM is thought to be a late onset disease process, two subgroups were formed for comparison: 18 CKCS younger than 2 years with SM (CM/SM group) and 13 CKCS older than 5 years without SM (CM group). Relative cerebellar volume was defined as the volume of the cerebellum divided by the total volume of brain parenchyma. Our results show that the CKCS has a relatively larger cerebellum than small breed dogs and Labradors and provide evidence that increased cerebellar volume in CKCS is associated with crowding of cerebellum in the caudal part of the CCF. In CKCS there is an association between increased cerebellar volume and SM. These findings have implications for the understanding of the pathological mechanisms of CM/SM, and support the hypothesis that it is a multifactorial disease process governed by increased cerebellar volume and failure of the CCF to reach a commensurate size.
Shaw, Thomas A.; McGonnell, Imelda M.; Driver, Colin J.; Rusbridge, Clare; Volk, Holger A.
Questionnaire-based behaviour analysis of Cavalier King Charles spaniels with neuropathic pain due to Chiari-like malformation and syringomyelia.
Chiari-like malformation (CM)/syringomyelia (SM) is a disease complex recognised in Cavalier King Charles spaniels (CKCSs) that can lead to neuropathic pain (NeP). In humans, NeP is associated with anxiety, depression and reduced quality of life (QoL). In this study, databases of three specialist veterinary centres were searched and CKCS breed societies and health forums were contacted to identify CKCS with an imaging diagnosis of CM/SM. Owners completed questionnaires on behaviour, signalment, general health status, NeP and QoL. Data were analysed from 122 dogs out of 564 questionnaires completed, after incomplete questionnaires and data from dogs that had other potentially debilitating disease processes were excluded. NeP severity score was significantly and positively correlated with 'stranger-directed' fear (r(S)=0.28), non-social fear (r(S)=0.34), 'separation-related' behaviour (r(S)=0.38), attachment behaviour (r(S)=0.24), excitability (r(S)=0.21) and proxy for pain sensation (r(S)=0.29). Increased NeP was also significantly associated with decreased QoL (r(S)=0.47), ability to settle (r(S)=0.26) and willingness to exercise (r(S)=0.50). Severity of NeP was positively associated with certain fear-associated behaviour and with decreased owner-perceived QoL. Thus, neurobehavioural changes should be considered in the management of NeP in CKCS with CM/SM. PMID:22738740
Rutherford, Lynda; Wessmann, Annette; Rusbridge, Clare; McGonnell, Imelda M; Abeyesinghe, Siobhan; Burn, Charlotte; Volk, Holger A
Cerebral Syrinx with Chiari I Malformation
A 13-year-old female presented with acute left gaze paralysis. MRI revealed hydrosyringomyelia (HSM) with syringobulbia in the left pons extending cephalad into the centrum semiovale. A suboccipital craniotomy was performed and the foramen of Magendie was imperforate. Ocular movements normalized in 2 months and postoperative MRI confirmed resolution of the cerebral syrinx and syringobulbia and diminished HSM. This case represents
Paul M. Kanev; Christopher C. Getch; Jack Jallo; Eric N. Faerber
Dexmedetomidine for an awake fiber-optic intubation of a parturient with Klippel-Feil syndrome, Type I Arnold Chiari malformation and status post released tethered spinal cord presenting for repeat cesarean section
Patients with Klippel-Feil Syndrome (KFS) have congenital fusion of their cervical vertebrae due to a failure in the normal segmentation of the cervical vertebrae during the early weeks of gestation and also have myriad of other associated anomalies. Because of limited neck mobility, airway management in these patients can be a challenge for the anesthesiologist. We describe a unique case in which a dexmedetomidine infusion was used as sedation for an awake fiber-optic intubation in a parturient with Klippel-Feil Syndrome, who presented for elective cesarean delivery. A 36-year-old female, G2P1A0 with KFS (fusion of cervical vertebrae) who had prior cesarean section for breech presentation with difficult airway management was scheduled for repeat cesarean delivery. After obtaining an informed consent, patient was taken in the operating room and non-invasive monitors were applied. Dexmedetomidine infusion was started and after adequate sedation, an awake fiber-optic intubation was performed. General anesthetic was administered after intubation and dexmedetomidine infusion was continued on maintenance dose until extubation. Klippel-Feil Syndrome (KFS) is a rare congenital disorder for which the true incidence is unknown, which makes it even rare to see a parturient with this disease. Patients with KFS usually have other congenital abnormalities as well, sometimes including the whole thoraco-lumbar spine (Type III) precluding the use of neuraxial anesthesia for these patients. Obstetric patients with KFS can present unique challenges in administering anesthesia and analgesia, primarily as it relates to the airway and dexmedetomidine infusion has shown promising result to manage the airway through awake fiberoptic intubation without any adverse effects on mother and fetus.
Shah, Tanmay H.; Badve, Manasi S.; Olajide, Kowe O.; Skorupan, Havyn M.; Waters, Jonathan H.; Vallejo, Manuel C.
A wooden, collapsible chair from Arnold Hague's expedition. Made of sassafras wood with interchangeable canvas covers. This chair can be collapsed into a roll that is packed up and transported easily. Object ID: USGS-000031...
Klippel-Feil syndrome and Dandy-Walker malformation.
The Klippel-Feil deformity is a complex of osseous and visceral anomalies, which include low hairline, platybasia, fused cervical vertebrae with a short neck, and deafness. Associated central nervous system abnormalities include occipital cephalocele, Chiari I malformation, syrinx, microcephaly, and hydrocephalus. Herein, we report a case with Klippel-Feil syndrome and Dandy-Walker malformation. PMID:22303802
Karaman, A; Kahveci, H
Arnold Hague used this bridle on his mapping expeditions of the west in the late 1800s. The metal accents are decorated with lucky horseshoes. This is just one example of the equipment used by field scientists in the care of animals that were used for transportation. Object ID: USGS-000020...
Angular craniometry in craniocervical junction malformation.
The craniometric linear dimensions of the posterior fossa have been relatively well studied, but angular craniometry has been poorly studied and may reveal differences in the several types of craniocervical junction malformation. The objectives of this study were to evaluate craniometric angles compared with normal subjects and elucidate the main angular differences among the types of craniocervical junction malformation and the correlation between craniocervical and cervical angles. Angular craniometries were studied using primary cranial angles (basal and Boogard's) and secondary craniocervical angles (clivus canal and cervical spine lordosis). Patients with basilar invagination had significantly wider basal angles, sharper clivus canal angles, larger Boogard's angles, and greater cervical lordosis than the Chiari malformation and control groups. The Chiari malformation group does not show significant differences when compared with normal controls. Platybasia occurred only in basilar invagination and is suggested to be more prevalent in type II than in type I. Platybasic patients have a more acute clivus canal angle and show greater cervical lordosis than non-platybasics. The Chiari group does not show significant differences when compared with the control, but the basilar invagination groups had craniometric variables significantly different from normal controls. Hyperlordosis observed in the basilar inavagination group was associated with craniocervical kyphosis conditioned by acute clivus canal angles. PMID:23640096
Botelho, Ricardo Vieira; Ferreira, Edson Dener Zandonadi
Delamination technique together with longitudinal incisions for treatment of Chiari I\\/syringomyelia complex: a prospective clinical study
BACKGROUND: Treatment modalities in Chiari malformation type 1(CMI) accompanied by syringomyelia have not yet been standardized. Pathologies such as a small posterior fossa and thickened dura mater have been discussed previously. Various techniques have been explored to enlarge the foramen magnum and to expand the dura. The aim of this clinical study was to explore a new technique of excision
Kadir Kotil; Tu?rul Ton; Rabia Tari; Yildiray Savas
09-NIF Dedication: Arnold Schwarzenegger
The National Ignition Facility, the world's largest laser system, was dedicated at a ceremony on May 29, 2009 at Lawrence Livermore National Laboratory. These are the remarks by California Governor Arnold Schwarzenegger.
Governor Arnold Schwarzenegger
Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it ... medicines, infections or radiation during pregnancy interferes with brain development. Types of brain malformations include missing parts ...
Frog malformations have been reported from 42 states. The broad geographic distribution of these malformations warrants national attention. Scientists at the USGS National Wildlife Health Center in Madison, Wisconsin are studying this problem in an effort to document its scope and to determine the causes of the observed malformations.
National Wildlife Health Center
NSDL National Science Digital Library
This activity (on page 2 of the PDF) is a full inquiry investigation into using indicator species to assess the health of an environment. Groups of learners will collect as many frogs as they can from a pond, looking for malformations, which will be documented and further sorted as either symmetrical or asymmetrical. This data will then be graphed to identify a prevalent trend and possible cause of malformations. Relates to linked video, DragonflyTV: Malformed Frogs.
Twin Cities Public Television, Inc.
[Arteriovenous malformations].
Arteriovenous malformations are serious high-flow vascular malformations. Four progressive stages have been described: dormancy, expansion, destruction and heart failure. Progression from one stage to another is not systematic but depends on events - physiological or traumatic, sometimes iatrogenic. Pulsed Doppler imaging of venous waveforms and magnetic resonance imaging (MRI) are the most informative examinations for both diagnosis and follow-up of arteriovenous malformations.Arteriography and angio-MRI help guide treatment decisions. Treatment of the malformation must not be envisioned until it reaches a symptomatic stage. It most often combines an endovascular procedures and wide surgical excision. A syndromic form must be considered in cases of systemic angioma. PMID:20206460
Naouri, Michael; Lorette, G�rard; Barbier, Charlotte; Zakine, Gilbert; Herbreteau, Denis
An Interview with Arnold Guess
Arnold Guess was the former finance expert with the Kentucky Department of Education who served as the catalyst for the creation of the Council for Better Education which sued the state and won a landmark decision in Rose v Council for Better Education, 1989.
Richard E. Day
Intraoperative aneurysmal subarachnoid hemorrhage after rupture of a previously undiagnosed intracranial aneurysm during Chiari decompression.
A type I Chiari malformation occurs when caudal displacement of the cerebellar tonsils below the level of the foramen magnum obstructs the normal flow of cerebrospinal fluid (CSF) between the cranial and spinal spaces, a condition that often needs surgical decompression to restore normal CSF circulation. Abrupt changes in CSF flow dynamics after Chiari decompression can affect the intracranial CSF dynamics to the extent that a previously undiagnosed intracranial aneurysm remote from the site can rupture. The authors describe the development of an intraoperative aneurysmal subarachnoid hemorrhage that occurred as a result of spontaneous rupture of a previously undiagnosed right distal posterior inferior cerebellar artery in a 57-year-old woman with type I Chiari malformation who was undergoing surgical decompression. The mechanism of the aneurysmal rupture appears to be related to the changes of CSF flow dynamics during surgical decompression. Normally, pressure equilibrium between the two sides of the aneurysmal wall prevents its rupture, but factors that significantly affect this equilibrium, such as systemic hypertension, can cause the aneurysm to rupture. To our knowledge, the concept of spontaneous intraoperative rupture of intracranial aneurysm remote from the site of surgery has been described twice previously but under different scenarios. This scenario, to our knowledge, has not been previously described. PMID:24113160
Sorour, Mohammad; Bowers, Christian A; Couldwell, William T
Anorectal malformations (ARM) are the result of an abnormal development of the terminal part of the digestive tract interesting anus and/or rectum that occur early between the sixth and tenth week of embryonic development. They carry a malformation spectrum of severity depending on the level of disruption of the anorectal canal and of the associated caudal malformations (sacrum and spine). ARM are associated in over half the cases with other malformations that can be integrated in some cases in known syndromes. If surgical treatment to restore anatomy as normal as possible is indispensable, post-operative care is essential for these patients whose defecation mechanisms are altered, to reach if not continence, at least a socially acceptable cleanliness. PMID:23992833
Cretolle, C; Rousseau, V; Lottmann, H; Irtan, S; Lortat-Jacob, S; Alova, I; Michel, J L; Aigrain, Y; Podevin, G; Lehur, P A; Sarnacki, S
Matthew Arnold, the Masses, and Arts Education
ERIC Educational Resources Information Center
In this article, the author examines the current arts education policies in the United States through the lens of Matthew Arnold's work and prose during his time as one of Her Majesty's School Inspectors in England and Wales in the nineteenth century. Arnold argued for government funding of public school systems, setting standards of quality for�
Pratt, Linda Ray
Arnold Hely and Australian Adult Education
ERIC Educational Resources Information Center
Arnold Hely (1907-1967) was a most significant figure in the history of adult education in New Zealand, in Australia and internationally. Arnold Hely, a New Zealander, Director of Tutorial Classes (later Adult Education) at the University of Adelaide from 1957 to 1965, was the prime mover in the establishment in 1964 of the Asian South Pacific�
Morris, Roger
Arnold Gesell and the Maturation Controversy
This article examines the work of Arnold Lucius Gesell and argues that he not only paved the way for contemporary research in motor development, but that he and colleagues anticipated fundamental issues about growth that must be addressed by psychologists and neuroscientists who are committed to the advancement of developmental science. Arnold Lucius Gesell was a pioneer in developmental psychology
Thomas C. Dalton
Benedict Arnold: A Question of Honor.
ERIC Educational Resources Information Center
The spring 2003 The Idea Book for Educators highlights television programming from the Arts and Entertainment Network (A&E), the History Channel, and the Biography Channel, with a focus on an A&E original movie premiere, "Benedict Arnold: A Question of Honor." The booklet contains the following materials: "A&E Study Guide: Benedict Arnold: A�
Nicolosi, Annie; O'Connell, Libby Haight; Rust, Mead
Geologic geochemical, and aeromagnetic investigations and a survey of mines and prospects in the Arnold Mesa Roadless Area, Arizona, provide little evidence for the occurrence of mineral or energy resources. Buried Proterozoic basement rocks are possible hosts of porphyry-type copper and massive sulfide deposits but the thick cover of Paleozoic sedimentary rocks and upper Cenozoic volcanic rocks precluded assessment of this possibility. Chemistry and temperature of spring and well waters suggest that a geothermal resource may exist near the eastern margin of the roadless area, but the anomaly has not been tested by drilling and this resource remains unverified. No other energy resources were identified.
Wolfe, Edward, W.; McColly, Robert, A.
Arnold diffusion in the swing equations of a power system
We present an application of the theory of Arnold diffusion to interconnected power systems. Using a Hamiltonian formulation, we show that Arnold diffusion arises on certain energy levels of the swing equations model. The occurrence of Arnold diffusion entails complex nonperiodic dynamics and erratic transfer of energy between the subsystems. Conditions under which Arnold diffusion exists in the dynamics of
F. Salam; J. Marsden; P. Varaiya
Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage,
Marc A Levitt; Alberto Pe�a
NASA Astrophysics Data System (ADS)
A detailed numerical study is presented of the slow diffusion (Arnold diffusion) taking place around resonance crossings in nearly integrable Hamiltonian systems of three degrees of freedom in the so-called �Nekhoroshev regime�. The aim is to construct estimates regarding the speed of diffusion based on the numerical values of a truncated form of the so-called remainder of a normalized Hamiltonian function, and to compare them with the outcomes of direct numerical experiments using ensembles of orbits. In this comparison we examine, one by one, the main steps of the so-called analytic and geometric parts of the Nekhoroshev theorem. Thus: (i) we review and implement an algorithm Efthymiopoulos (2008)�[45] for Hamiltonian normalization in multiply resonant domains which is implemented as a computer program making calculations up to a high normalization order. (ii) We compute the dependence of the optimal normalization order on the small parameter ? in a specific model and compare the result with theoretical estimates on this dependence. (iii) We examine in detail the consequences of assuming simple convexity conditions for the unperturbed Hamiltonian on the geometry of the resonances and on the phase space structure around resonance crossings. (iv) We discuss the dynamical mechanisms by which the remainder of the optimal Hamiltonian normal form drives the diffusion process. Through these steps, we are led to two main results: (i) We construct in our concrete example a convenient set of variables, proposed first by Benettin and Gallavotti (1986) [12], in which the phenomenon of Arnold diffusion in doubly resonant domains can be clearly visualized. (ii) We determine, by numerical fitting of our data, the dependence of the local diffusion coefficient D on the size ?R? of the optimal remainder function, and we compare this with a heuristic argument based on the assumption of normal diffusion. We find a power law D??, where the constant b has a small positive value depending also on the multiplicity of the resonance considered.
Efthymiopoulos, C.; Harsoula, M.
Arnold gesell and the maturation controversy
This article examines the work of Arnold Lucius Gesell and argues that he not only paved the way for contemporary research\\u000a in motor development, but that he and colleagues anticipated fundamental issues about growth that must be addressed by psychologists\\u000a and neuroscientists who are committed to the advancement of developmental science. Arnold Lucius Gesell was a pioneer in developmental\\u000a psychology
Thomas C. Dalton
Persistent/Recurrent syringomyelia after Chiari decompression-natural history and management strategies: a systematic review.
Study Design?Systematic review. Study Rationale?One of the most consistent indications for a Chiari decompression is tonsillar descent meeting the radiographic criteria and an associated syrinx in a symptomatic patient. In counseling patients about surgery, it would be advantageous to have information regarding the expected outcome with regard to the syrinx and other possible treatments available if the result is suboptimal. Clinical Questions?The clinical questions include: (1) What is the average rate of recurrent or residual syringomyelia following posterior fossa decompression as a result of Chiari malformation with associated syringomyelia? (2) What treatment methods have been reported in the literature for managing recurrent or residual syringomyelia after initial posterior fossa decompression? Materials and Methods Available search engines were utilized to identify publications dealing with recurrent or residual syrinx after Chiari decompression and/or management of the syrinx. Rates of residual or recurrent syrinx were extracted and management strategies were recorded. Overall strength of evidence was quantified. Results?Of the 72 citations, 11 citations met inclusion criteria. Rates of recurrent/residual syringomyelia after decompression in adults range from 0 to 22% with an average of 6.7%. There were no studies that discussed specifically management of the remaining syrinx. Conclusion?Rates of recurrent/residual syringomyelia after Chiari decompression in adults range from 0 to 22% (average 6.7%). Although no studies describing the optimal management of residual syrinx were found, there is general agreement that the aim of the initial surgery is to restore relatively unimpeded flow of cerebrospinal across the craniocervical junction. Large holocord syrinx may induce a component of spinal cord injury even with adequate decompression and reduction in the caliber of the syrinx, resulting in permanent symptoms of injury. PMID:24436709
Schuster, James M; Zhang, Fangyi; Norvell, Daniel C; Hermsmeyer, Jeffrey T
Small hepatic veins Budd-Chiari syndrome.
Budd-Chiari syndrome is a rare disorder characterized by hepatic venous outflow obstruction at any level from the small hepatic veins to the atrio-caval junction, in the absence of heart failure or constrictive pericarditis. Various imaging modalities are available for investigating the gross hepatic vascular anatomy but there are rare forms of this disease where the obstruction is limited to the small intrahepatic veins, with normal appearance of the large hepatic veins at imaging. In this cases only a liver biopsy can demonstrate the presence of a small vessels outflow block. We report two cases of small hepatic veins Budd-Chiari syndrome. PMID:23813023
Riggio, Oliviero; Marzano, Chiara; Papa, Alessia; Pasquale, Chiara; Gasperini, Maria Ludovica; Gigante, Antonietta; Valla, Dominique Charles; Plessier, Aur�lie; Amoroso, Antonio
CT diagnosis of Budd-Chiari syndrome.
The computed tomographic (CT) findings in Budd-Chiari syndrome are described. With repeated injections of contrast medium, using an angio-CT technique, the authors consistently obtained a good and homogeneous enhancement of the liver parenchyma and vascular structures. The portal and hepatic veins were routinely seen. In Budd-Chiari syndrome, the authors found patchy enhancement of the involved section of the liver and absence of visualization of the hepatic veins. The latter is considered characteristic of hepatic vein obstruction and should not be misinterpreted as a consequence of neoplastic lesion. PMID:7240512
Rossi, P; Sposito, M; Simonetti, G; Sposato, S; Cusumano, G
Magda B. Arnold's life and work in context
This paper provides a biographical and historical context for understanding and appreciating Magda B. Arnold's (1903�2002) theory and research on emotion. It situates Arnold's work in the context of mid-century emotion theory, the status of women psychologists, and pre-Cognitive Revolution psychology more generally. In considering Arnold's life and work, three themes stand out and deserve emphasis: (1) Arnold's lifelong passion
Stephanie A. Shields
[Superficial venous malformations].
Superficial venous malformations are part of a larger group now called superficial vascular anomalies and previously known as angiomas. These include vascular tumors or infantile hemangioma, low-flow vascular malformations (capillary, lymphatic, and superficial venous malformations) and high-flow vascular malformations (arteriovenous malformations). Some of these lesions are complex. This classification facilitates their multidisciplinary therapeutic management. Embolization is an effective curative treatment for malformations of small and intermediate size. The objective for large or complex malformations is to restore anatomic function and improve cosmetic results. PMID:20304597
Barbier, Charlotte; Martin, Arnaud; Papagiannaki, Chrisanti; Cottier, Jean-Philippe; Lorette, G�rard; Herbreteau, Denis
Budd-Chiari syndrome in a patient of diabetic ketoacidosis
We report a rare case of Budd-Chiari syndrome developing in a patient undergoing treatment for diabetic ketoacidosis. A 27-year-old female presented with newly detected Type 1 diabetes with sepsis in ketoacidosis. During the process of treatment, she developed pain abdomen, ascites, and pedal edema. Investigations revealed an alteration of liver function and imaging characteristics of acute on chronic Budd�Chiari syndrome. All known etiological factors for Budd�Chiari syndrome were negative. Diabetic ketoacidosis, being a severely dehydrated state often associated with sepsis, may precipitate an acute presentation of previously asymptomatic Budd�Chiari syndrome.
Dasgupta, Arundhati; Saikia, Uma Kaimal; Sharma, Dipti; Choudhury, Bikash
External validation of the Chicago Chiari Outcome Scale.
Object Historically, assessment of clinical outcomes following surgical management of Chiari malformation Type I (CM-I) has been challenging due to the lack of a validated instrument for widespread use. The Chicago Chiari Outcome Scale (CCOS) is a novel system intended to provide a less subjective evaluation of outcomes for patients with CM-I. The goal of this study was to externally validate the performance of the CCOS. Methods Patients undergoing surgery for CM-I between 2001 and 2012 were reviewed (n = 292). Inclusion criteria for this study were as follows: 1) patients receiving primary posterior fossa decompression; 2) at least 5.5 months of postoperative clinical follow-up; and 3) patients ? 18 years of age at the time of surgery. Outcomes were evaluated using the CCOS, along with a "gestalt" impression of whether patients experienced significant improvement after surgery. A subgroup of 118 consecutive patients undergoing operations between 2008 and 2010 was selected for analysis of interrater reliability (n = 73 meeting inclusion/exclusion criteria). In this subgroup, gestalt and CCOS scores were independently determined by 2 reviewers, and interrater reliability was assessed using the intraclass correlation coefficient (ICC) and kappa (?) statistic. Results The median CCOS score was 14, and 67% of patients had improved gestalt scores after surgery. Overall, the CCOS was effective at identifying patients with improved outcome after surgery (area under curve = 0.951). The interrater reliability of the CCOS (ICC = 0.71) was high, although the reliability of the component scores ranged from poor to good (ICC 0.23-0.89). The functionality subscore demonstrated a low ICC and did not add to the predictive ability of the logistic regression model (likelihood ratio = 1.8, p = 0.18). When analyzing gestalt outcome, there was moderate agreement between raters (? = 0.56). Conclusions In this external validation study, the CCOS was effective at identifying patients with improved outcomes and proved more reliable than the authors' gestalt impression of outcome. However, certain component subscores (functionality and nonpain symptoms) were found to be less reliable, and may benefit from further definition in score assignment. In particular, the functionality subscore does not add to the predictive ability of the CCOS, and may be unnecessary. Overall, the authors found the CCOS to be an improvement over the previously used assessment of outcome at their institution. PMID:24724715
Yarbrough, Chester K; Greenberg, Jacob K; Smyth, Matthew D; Leonard, Jeffrey R; Park, Tae Sung; Limbrick, David D
Matthew Arnold and Minimal Competency Testing.
ERIC Educational Resources Information Center
Presents arguments by Robert Lowe and Matthew Arnold on the 19th century British "Payment by Results" Plan, whereby schools received funds for students who passed minimal competency tests. Emphasizes that the Victorian experience produced acrimonious teachers with low morale and encourages contemporary minimal testing advocates not to repeat past�
Tuman, Myron C.
Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage, are often associated with other anomalies, and have a poor functional prognosis. The surgical approach to repairing these defects changed dramatically in 1980 with the introduction of the posterior sagittal approach, which allowed surgeons to view the anatomy of these defects clearly, to repair them under direct vision, and to learn about the complex anatomic arrangement of the junction of rectum and genitourinary tract. Better imaging techniques, and a better knowledge of the anatomy and physiology of the pelvic structures at birth have refined diagnosis and initial management, and the analysis of large series of patients allows better prediction of associated anomalies and functional prognosis. The main concerns for the surgeon in correcting these anomalies are bowel control, urinary control, and sexual function. With early diagnosis, management of associated anomalies and efficient meticulous surgical repair, patients have the best chance for a good functional outcome. Fecal and urinary incontinence can occur even with an excellent anatomic repair, due mainly to associated problems such as a poorly developed sacrum, deficient nerve supply, and spinal cord anomalies. For these patients, an effective bowel management program, including enema and dietary restrictions has been devised to improve their quality of life.
Levitt, Marc A; Pena, Alberto
Congenital malformations in Utah.
The rate of malformed children in Utah of 11.7 per 1,000 liver births, derived from 128,857 birth certificates, ws not high compared with other non-Utah studies. Rates of selected malformations also were not high. The rate of malformed children varied by county of residence. San Juan County reported the highest percentage of mothers receiving late or infrequent prenatal care, the lowest mean level of public education, and the highest rate of malformed children in the state. The rate was not significantly associated with the large population of Indians residing in that county since by controlling for residence, the variation by race was eliminated. The overall rate was positively associated with maternal age rimarily due to an increased frequency of Down's syndrome. The impact of the "maternal age effect" on the state malformation rate, however, was not large. By controlling for maternal age, the slight association between increased rate of malformed children and increasing birth order was eliminated. The rate of malformed children was higher for parents having a low level of education, infrequent prenatal care, or who were not married. There was also a strong negative association of birth weight with the rate of malformation. Analysis of rates of selected malformations suggested that the low birth weight was a sequela to intrauterine growth retardation caused by severe congenital malformation. The validity and etiologic implications of these results await further investigation. PMID:6449752
Seegmiller, R E; Hansen, W N
Long-term Experience with Chiari's Osteotomy
Fifty-six years after the introduction of Chiari�s pelvic osteotomy, we report the long-term function scores and radiographic grade of osteoarthritis in 66 patients with 80 pelvic osteotomies with a minimum followup time of 27�years (average, 32�years; range, 27�48�years). These 66 patients were those who could be contacted and who returned for a followup visit from among 450 patients operated between 1961 and 1981. Thirty-two hips (40%) in 28 patients had undergone a total joint arthroplasty after an average 26�years (range, 13�41�years). Forty-eight hips in 41 patients (60%) were not replaced, their Harris hip score being a median of 82 points (range, 37�100 points). For the 22 patients for whom we had complete radiographs the average preoperative CE angle was 11.6�, 48.6� (range, 31��82.8�) immediately postoperatively, and 41.6� (range, 13.7��90�) at last followup . Despite a functional hip score in most patients retaining their native hip, the degree of osteoarthritis progressed at last followup. We observed a similar mean age at the time of osteotomy in patients converted to total hip arthroplasty and those retaining their native hip. Age at time of surgery was inversely correlated (r = ?0.78) with the interval between the osteotomy and THA. In this select patient group we found good functional outcome in patients who underwent Chiari pelvic osteotomy, with a conversion rate of 40% to total hip arthroplasty a mean of 32�years after the procedure. Level of Evidence: Level IV, case series. See Guidelines for Authors for a complete description of levels of evidence.
Chiari, Catharina; Hofstaetter, Jochen G.; Lunzer, Andreas; Peloschek, Philipp
Author! Author! Creator of Frog and Toad: Arnold Lobel
ERIC Educational Resources Information Center
This article presents a brief biography of author Arnold Lobel, perhaps best known for giving the world Frog and Toad. Arnold Lobel was born in Los Angeles, California, on May 22, 1933, and was raised by his grandparents in New York. He loved checking out books from the library when he was a little boy and sharing with his classmates the stories�
Brodie, Carolyn S.
The Arnold Arboretum of Harvard University: Plants
NSDL National Science Digital Library
The Arnold Arboretum of Harvard University provides this in-depth Web site featuring plants found at the Arboretum and related information. Visitors to this site will find sections featuring selected plants at the Arboretum, collections management, on-site projects, a plant-information hotline, and a detailed table listing bloom times for dozens of plants; guidelines for adjusting dates for localities beyond New England are provided. The Featured Plants section, for example, includes a look at 18 of the Arboretum's 600+ trees and shrubs over 100 years old and a detailed introduction to the art of bonsai. Plant lovers anywhere should enjoy this interesting and nicely presented Web site.
Taking Chiari to School: A Guide for Parents
... to local organizations. Visit: http://nichcy.org/ Conquer Pediatric Chiariis a section within Conquer Chiari, also known as the C&S Patient Education Foundation. Fact sheets, access to social networking ...
In utero Repair of Myelomeningocele: Rationale, Initial Clinical Experience and a Randomized Controlled Prospective Clinical Trial
Myelomeningocele (MMC), one of the most common congenital malformations, can result in severe lifelong disabilities, including paraplegia, hydrocephalus, Arnold-Chiari II malformation, incontinence, sexual dysfunction, skeletal deformations, and mental impairment. MMC was the first nonlethal anomaly to be treated by fetal surgery. Studies in animals provide compelling evidence that the primary cause of the neurological deficit associated with MMC is not
Enrico Danzer; Alan W. Flake
Arnold Gesell and the maturation controversy.
This article examines the work of Arnold Lucius Gesell and argues that he not only paved the way for contemporary research in motor development, but that he and colleagues anticipated fundamental issues about growth that must be addressed by psychologists and neuroscientists who are committed to the advancement of developmental science. Arnold Lucius Gesell was a pioneer in developmental psychology when the field was in its infancy. He worked diligently for the rights of physically and mentally handicapped children to receive special education that would enable them to find gainful employment. Gesell's writings in books and popular magazines increased public awareness of and support for preschool education and better foster care for orphans. Despite these achievements, many of his successors have questioned his views about infant development. Developmental psychologists have criticized Gesell for proposing a stage theory of infant growth that has fallen into disfavor among contemporary researchers. His conception of development as a maturational process has been challenged for allegedly reducing complex behavioral, perceptual, and learning processes to genetic factors. The author rejects this overly simplistic interpretation and contends that Gesell's work continues to stand the test of time. PMID:17549936
Dalton, Thomas C
Long-term experience with Chiari's osteotomy.
Fifty-six years after the introduction of Chiari's pelvic osteotomy, we report the long-term function scores and radiographic grade of osteoarthritis in 66 patients with 80 pelvic osteotomies with a minimum followup time of 27 years (average, 32 years; range, 27-48 years). These 66 patients were those who could be contacted and who returned for a followup visit from among 450 patients operated between 1961 and 1981. Thirty-two hips (40%) in 28 patients had undergone a total joint arthroplasty after an average 26 years (range, 13-41 years). Forty-eight hips in 41 patients (60%) were not replaced, their Harris hip score being a median of 82 points (range, 37-100 points). For the 22 patients for whom we had complete radiographs the average preoperative CE angle was 11.6 degrees, 48.6 degrees (range, 31 degrees-82.8 degrees) immediately postoperatively, and 41.6 degrees (range, 13.7 degrees-90 degrees) at last followup . Despite a functional hip score in most patients retaining their native hip, the degree of osteoarthritis progressed at last followup. We observed a similar mean age at the time of osteotomy in patients converted to total hip arthroplasty and those retaining their native hip. Age at time of surgery was inversely correlated (r = -0.78) with the interval between the osteotomy and THA. In this select patient group we found good functional outcome in patients who underwent Chiari pelvic osteotomy, with a conversion rate of 40% to total hip arthroplasty a mean of 32 years after the procedure. Level of Evidence: Level IV, case series. See Guidelines for Authors for a complete description of levels of evidence. PMID:19521741
Kotz, Rainer; Chiari, Catharina; Hofstaetter, Jochen G; Lunzer, Andreas; Peloschek, Philipp
MR imaging of hindbrain deformity in Chiari II patients with and without symptoms of brainstem compression.
We examined the MR appearance of the hindbrain deformity, including the upper cervical spinal canal and craniovertebral junction, in 33 patients with Chiari II malformation. In this disorder, there is impaction at birth of the medulla and cerebellar vermis into the upper cervical spine, resulting in obliteration of the subarachnoid space and scalloping of the dens. Spinal canal enlargement during the child's growth, combined with dorsal displacement of neural tissue, eventually causes marked widening of the precervical subarachnoid space. This enlargement may simulate an intradural mass. Our series documents the changes seen at birth and the progression of the widened precervical space through the first and second decades. Twelve (36%) of the 33 patients studied were symptomatic, with brainstem or longtract symptomatology, and 11 of these required surgery. This group was compared with the remaining 21 asymptomatic Chiari II patients to identify MR features associated with clinical deterioration. The level of descent of the hindbrain hernia was critical; eight of 12 symptomatic patients had a cervicomedullary kink at C4 or lower, while no asymptomatic patients had a fourth ventricle, medulla, or kink below C3-C4. The precervical cord subarachnoid space was slightly wider in asymptomatic patients, although there was great overlap. In five patients with follow-up scans, this space was seen to increase in width after laminectomy. A CSF flow void was present in the precervical space in about 25% of patients in both groups. In nine of 12 symptomatic patients, C1 arch indentation of the dura (causing significant compression) was confirmed surgically. However, seven (33%) of the 21 asymptomatic patients also had this appearance. Absolute measurement of the anteroposterior diameter of the canal at C1 ranged from 11 to 25 mm in both groups. Retrocollis, which persisted despite sedation for MR, was seen in two patients, both symptomatic. Recognition of the vermis, medullary kink, cervical cord, C1 arch, fourth ventricle, and precervical space in Chiari II patients is fundamental to the analysis of symptoms in PMID:2494848
Curnes, J T; Oakes, W J; Boyko, O B
Changing profile of Budd Chiari syndrome in India.
There is increasing evidence that Budd Chiari syndrome occurs when acquired predisposing factor(s) affect a susceptible individual with one or more underlying thrombophilic conditions. Geographical variations in disease pattern of Budd Chiari syndrome exist, which may reflect differing predisposing factors. We review a change in disease profile of Budd Chiari syndrome in India over the past three decades. While earlier studies from India reported isolated inferior vena cava (IVC) obstruction as the commonest disease type, this is a minority in more recent reports where a combination of IVC and hepatic vein obstruction is the commonest type. Longer duration of illness has been shown to be associated with IVC obstruction and the recent change in disease profile in India may reflect earlier diagnosis of Budd Chiari syndrome. Poverty, malnutrition, recurrent bacterial infections and filariasis have been previously suggested as predisposing factors for IVC obstruction. Improvement in hygiene and sanitation may partly explain the recent change in disease profile of Budd Chiari syndrome in India. PMID:17558071
Eapen, C E; Mammen, Thomas; Moses, Vinu; Shyamkumar, N K
Pediatric neuroanesthesia. Neural tube defects.
Neural tube defects of the brain and spinal cord, among the most common birth defects in the United States, cause neurologic morbidity from the lesions themselves and from associated hydrocephalus and Arnold-Chiari malformation. Because the myelomeningoceles, and encephaloceles are repaired surgically within hours of birth, neonatal anesthetic management with attention to fluids, body temperature, intravenous access, and monitoring is important. Anesthesia for treatment of hydrocephalus and Arnold-Chiari malformation takes into consideration the presence of intracranial hypertension and the need for manipulation of vital structures in the posterior fossa. PMID:11469061
Hamid, R K; Newfield, P
Budd-Chiari Syndrome Caused by TIPS Malposition: A Case Report
Budd-Chiari syndrome refers to hepatic pathology secondary to diminished venous outflow, most commonly associated with venothrombotic disease. Clinically, patients with Budd-Chiari present with hepatomegaly, ascites, abdominal distension, and pain. On imaging, Budd-Chiari syndrome is hallmarked by occluded IVC and or hepatic veins, caudate lobe enlargement, heterogeneous liver enhancement, intrahepatic collaterals, and hypervascular nodules. Etiopathological factors for Budd-Chiari syndrome include several systemic thrombotic and nonthrombotic conditions that can cause venous outflow obstruction at hepatic veins and/or IVC. While the transjugular intrahepatic portosystemic shunt (TIPS) is used as a treatment option for Budd-Chiari syndrome, Budd-Chiari syndrome is not a well-known complication of TIPS procedure. We report a case of Budd-Chiari syndrome that occurred in a transplanted cirrhotic liver from malpositioned proximal portion of the TIPS in IVC causing occlusion of the ostia of hepatic veins which was subsequently diagnosed on contrast-enhanced CT.
Katkar, A. S.; Kuo, Anderson H.; Calle, S.; Gangadhar, K.; Chintapalli, K.
[Budd-Chiari syndrome: current medical-surgical management].
The Budd-Chiari syndrome or obstruction of the hepatic veins and/or suprahepatic inferior vena cava is a rare process, frequently associated with hypercoagulable states. There exist several clinical presentations, being most common the acute and subacute forms and rarely seen the fulminant and chronic forms (cirrhosis or fibrosis associated). We present here a female patient with Budd-Chiari syndrome produced by polycythemia, resolved by mesentericocaval interposition "H" shunt using internal jugular vein, after analyzing the current different modalities of medical-surgical treatment, specially portal system shunts and liver transplantation, related to presentation form. PMID:9866414
Jim�nez Romero, C; Gonz�lez Chamorro, A; Rodr�guez Ca�ete, A; Moreno Sanz, C; Rodr�guez Romano, D; Manzanera D�az, M; N��ez Alonso, V; Hidalgo Pascual, M; Moreno Gonz�lez, E
Automated Posterior Cranial Fossa Volumetry by MRI: Applications to Chiari Malformation Type I
BACKGROUND AND PURPOSE Quantification of PCF volume and the degree of PCF crowdedness were found beneficial for differential diagnosis of tonsillar herniation and prediction of surgical outcome in CMI. However, lack of automated methods limits the clinical use of PCF volumetry. An atlas-based method for automated PCF segmentation tailored for CMI is presented. The method performance is assessed in terms of accuracy and spatial overlap with manual segmentation. The degree of association between PCF volumes and the lengths of previously proposed linear landmarks is reported. MATERIALS AND METHODS T1-weighted volumetric MR imaging data with 1-mm isotropic resolution obtained with the use of a 3T scanner from 14 patients with CMI and 3 healthy subjects were used for the study. Manually delineated PCF from 9 patients was used to establish a CMI-specific reference for an atlas-based automated PCF parcellation approach. Agreement between manual and automated segmentation of 5 different CMI datasets was verified by means of the t test. Measurement reproducibility was established through the use of 2 repeated scans from 3 healthy subjects. Degree of linear association between PCF volume and 6 linear landmarks was determined by means of Pearson correlation. RESULTS PCF volumes measured by use of the automated method and with manual delineation were similar, 196.2 � 8.7 mL versus 196.9 � 11.0 mL, respectively. The mean relative difference of ?0.3 � 1.9% was not statistically significant. Low measurement variability, with a mean absolute percentage value of 0.6 � 0.2%, was achieved. None of the PCF linear landmarks were significantly associated with PCF volume. CONCLUSIONS PCF and tissue content volumes can be reliably measured in patients with CMI by use of an atlas-based automated segmentation method.
Bagci, A.M.; Lee, S.H.; Nagornaya, N.; Green, B.A.; Alperin, N.
Treatment for Chiari 1 malformation (CIM): analysis of a pediatric surgical series.
Children may present a peculiar picture of CIM, as syncopes and acute paraparesis. In a series of 99 children operated for CIM at FINCB there were no major surgical morbidity nor mortality. The preoperative symptoms improved more in this pediatric series than in the adult cases treated at the same institution in the same period; a reason could be the shorter duration of symptoms and another the children plasticity. An untreated nonsyndromic craniosynostosis was present in 10 cases. In our hands, the results of the limited extradural decompression were poor. In some CIM associated with psychiatric symptoms an unexpected improvement was observed after tonsilar resection. The associated Syringomyelia reduced in more than 80% of children and disappeared in a significant number. The rare associated tethered cord (5%) needed a double treatment, detethering by itself being insufficient to treat also tonsillar descent. The clinical symptoms are often more serious in children than in the adults, but the results of surgery, especially on the syrinx, are better. PMID:21879328
Valentini, Laura; Visintini, Sergio; Saletti, Veronica; Chiapparini, Luisa; Estienne, Margherita; Solero, Carlo Lazzaro
Diffuse cerebral arteriovenous malformation.
Diffuse cerebral arteriovenous malformation (AVM) is a rare disorder of the brain and defined as diffuse infiltration of brain by complex vascular structures. It is usually associated with hereditary syndromes and presented with hemorrhage or seizure. We report a 20-year-old male patient who presented with drooping of the left eyelid. He had no skin lesion. The ophthalmological examination was within normal limits except periorbital bruit on oscultation. Radiological examination revealed a diffuse AVM comprising multiple arteriovenous shunts, draining bihemispherically through numerous dilated veins but without a typical arteriovenous malformation nidus. No hereditary disorder was detected. No treatment was performed and the patient is still under follow-up. PMID:20963707
Solmaz, Ilker; Secer, Halil Ibrahim; Tehl?, Ozkan; Tem?z, Caglar; Izc?, Yusuf; Gonul, Engin
Genetic malformations of cortical development
The malformations of the cerebral cortex represent a major cause of developmental disabilities, severe epilepsy and reproductive disadvantage. The advent of high-resolution MRI techniques has facilitated the in vivo identification of a large group of cortical malformation phenotypes. Several malformation syndromes caused by abnormal cortical development have been recognised and specific causative gene defects have been identified. Periventricular nodular heterotopia
Renzo Guerrini; Carla Marini
Analysis and improvement of the quantum Arnold image scrambling
NASA Astrophysics Data System (ADS)
We investigate the quantum Arnold image scrambling proposed by Jiang et al. (Quantum Inf Process 13(5):1223-1236, 2014). It is aimed to realize Arnold and Fibonacci image scrambling in quantum computer. However, the algorithm does not perceive the particularities of "mod ," multiply by 2, and subtraction in binary arithmetic. In this paper, a possible simplified version is presented based on 3 theorems and a corollary which represent the particularities of binary arithmetic. The theoretical analysis indicates that the network complexity is dropped from 140 n 168 n to 28 n 56 n and the unitarity of circuits is not destroyed.
Jiang, Nan; Wang, Luo
Analysis and improvement of the quantum Arnold image scrambling
NASA Astrophysics Data System (ADS)
We investigate the quantum Arnold image scrambling proposed by Jiang et al. (Quantum Inf Process 13(5):1223-1236, 2014). It is aimed to realize Arnold and Fibonacci image scrambling in quantum computer. However, the algorithm does not perceive the particularities of "mod 2n ," multiply by 2, and subtraction in binary arithmetic. In this paper, a possible simplified version is presented based on 3 theorems and a corollary which represent the particularities of binary arithmetic. The theoretical analysis indicates that the network complexity is dropped from 140n � 168n to 28n � 56n and the unitarity of circuits is not destroyed.
Jiang, Nan; Wang, Luo
Congenital uterine malformations.
With the advent of newer imaging techniques, the radiologist is now able to make very precise and accurate diagnoses of congenital uterine malformations and their complications. Because these anomalies are associated with reproductive dysfunction, they are often discovered during an infertility evaluation. By imaging parallel to the long axis of the uterus, the external contour can be evaluated, obviating laparoscopy for differentiating septate from bicornuate uteri. Obstructed uterovaginal anomalies (e.g., hematometros, hematometrocolpos), an important complication of abnormal m�llerian duct development, can occur at any time from the newborn period to adulthood. Determining the site of obstruction is imperative for planning the proper surgical approach. To understand these malformations better, we review the relevant embryology. The most widely accepted classification scheme is discussed in detail, with an emphasis on diagnosis, prognosis, and therapeutic options. PMID:8536487
Woodward, P J; Sohaey, R; Wagner, B J
A non-commutative version of the Arnold cat map
We provide a treatment of the ergodic properties of a noncommutative algebraic analogue of the dynamical system known as the Arnold �cat map� of the two-dimensional torus. Here, the algebra of functions on the torus is replaced by its noncommutative analogue, formulated by Connes and Rieffel, which arises in the quantum Hall effect. Our main results are that (a) the
F. Benatti; H. Narnhofer; G. L. Sewell
Tomita representation of the Arnol'd cat map
NASA Astrophysics Data System (ADS)
The Tomita Hilbert-space representation of the Arnol'd cat map model of Benatti et al. is described and the operators representing physical quantities are defined for the classical and quantum cases. It is seen that the exponential decay of correlations is preserved upon quantization.
Grelland, Hans H.
Treatment of congenital malformations.
The prevalence of m�llerian malformations is 1 in 200, or 0.5%. A third of the anomalies are septate, a third bicornuate uteri, 10% arcuate uterus, 10% didelphis and unicornuate uterus, and < 5% uterine and vaginal aplasia. Correct diagnosis of the malformation is most important but often very difficult. Correct treatment can only be performed if the malformation is clear. Longitudinal vaginal septums have to be removed due to potential obstetric problems. Transverse vaginal septums can cause hematocolpos and pain and have to be incised crosswise and excised so as not to shorten the vagina at the same time. Congenital vaginal agenesis occurs in Mayer-Rokitansky-Kuster-Hauser syndrome patients and in androgen insensitivity syndrome. The first choice for surgical treatment should be the new laparoscopic-assisted creation of a neovagina. Septate uterus has to be distinguished from a bicornuate uterus. Even if it is not proven to be a cause for infertility, the chance of miscarriage can be diminished by performing hysteroscopic metroplasty. Repair of a uterine septum in infertility patients often improves pregnancy rates. In contrast, surgical repair of a bicornuate uterus requires an abdominal metroplasty. This should only be performed if the patient has recurrent fetal loss due to the uterine structural defect. In a unicornuate uterus it is most important to determine if there is a second uterine horn that can cause cyclic pain if it has functioning endometrium. The only surgical option in these cases is to remove the rudimentary uterus with endometrium and hematometra, respectively. PMID:21437824
Brucker, Sara Yvonne; Rall, Katharina; Campo, Rudi; Oppelt, Peter; Isaacson, Keith
Congenital malformations in the newborn
Summary��5,376 consecutive births were examined for the presence of congenital malformations, to find out its incidence and to determine\\u000a the role of environmental factors in the causation of these anomalies.\\u000a \\u000a The incidence was 13.76 per one thousand births. Males dominated among the malformed infants with an incidence of 67.56 per\\u000a cent. The maximum number of malformed children were born to
K. K. Khanna; L. S. N. Prasad
Interventional Radiology in the Management of Budd Chiari Syndrome
Budd Chiari syndrome is an uncommon condition in the Western world but interventional radiology can contribute significantly to the management of the majority of patients. This review examines the role and technique of interventions including hepatic vein dilatation and stent insertion as well as thrombolysis and TIPS. Liver transplantation and surgical shunt surgery are discussed in relation to radiological interventions. With appropriate selection and technique, surgery is only required in a minority of patients.
Beckett, David [Sheffield Vascular Institute, Vascular and Interventional Radiology (United Kingdom); Olliff, Simon, E-mail: firstname.lastname@example.com [Queen Elizabeth Hospital, University Hospital Birmingham NHS Foundation Trust, Clinical Radiology Department (United Kingdom)
Placement of a caudal vena cava stent for treatment of Budd-Chiari-like syndrome in a 4-month-old Ragdoll cat.
Case Description-A 16-week-old 1.5-kg (3.3-lb) sexually intact male Ragdoll kitten that had a 9-week history of marked modified transudate ascites was evaluated. A membranous obstruction of the caudal vena cava at the cranial aspect of the liver was identified via CT angiography. Clinical Findings-Physical examination findings included a markedly distended abdomen and panting. Testing for circulating FIV antibody and FeLV antigen, a PCR assay for feline coronavirus performed on a sample of peritoneal fluid, and fecal flotation yielded negative results. A diagnosis of Budd-Chiari-like syndrome secondary to a membranous obstruction of the caudal vena cava was made. Treatment and Outcome-The cat was anesthetized, and the subhepatic portion of the caudal vena cava was identified and accessed via median celiotomy and direct venipuncture. A 6F 8 � 24-mm balloon-expandable nitinol biliary stent was placed across the stenotic area under fluoroscopic guidance. The patient remained free of clinical signs at the last follow-up 13 months following the procedure. Clinical Relevance-Budd-Chiari-like syndrome is a rare phenomenon in veterinary medicine, and congenital malformations should be considered in young feline patients with ascites. Computed tomography angiography proved to be a helpful adjunctive imaging technique to establish a diagnosis in this case. To the authors' knowledge, this is the first report of successful treatment of a congenital caudal vena cava obstruction by means of stent placement in a juvenile cat. PMID:25075825
Hoehne, Sabrina N; Milovancev, Milan; Hyde, Aleshia J; deMorais, Helio A; Scollan, Kate F; Nemanic, Sarah
Birth injury as a causative factor of syringomyelia with Chiari type I deformity.
The epidemiology of syringomyelia with Chiari type I deformity was investigated with particular reference to perinatal problems. All subjects in our study were born by vaginal delivery and had a high incidence of perinatal accidents (abnormal presentations, birth injuries, and neonatal asphyxia). This study suggests that these may be strong causative factors for syringomyelia associated with Chiari type I deformity.
Hida, K; Iwasaki, Y; Imamura, H; Abe, H
Arteriovenous Malformation Management
Arteriovenous malformations (AVM) are rare vascular lesions that can present with a myriad of clinical presentations. In our institutions, initial workup consists of a clinical exam, color Doppler imaging, and magnetic resonance imaging. After the initial noninvasive workup, arteriography, at times closed system venography, and ethanol endovascular repair of the AVM is performed under general anesthesia. Depending on the size of the lesion, additional Swan-Ganz line and arterial line monitoring are performed. Patients are usually observed overnight and uneventfully discharged the following day if no complication occurs. Patients are followed at periodic intervals despite cure of their lesion. Long-term follow-up is essential in AVM management.
Yakes, Wayne F. [Interventional Radiology and Interventional Neuroradiology, Radiology Imaging Associates, P.C., Colorado NeurologicalInstitute, Swedish Medical Center, 501 E. Hampden Avenue, Englewood, CO 80110 (United States); Rossi, Plinio [Department of Radiology, Universita Degli Studi Di Roma, 'La Sapienza', 00161 Rome (Italy); Odink, Henk [Department of Radiology, De Wever Hospital, Henri Dunanstrat 5, 6419 PC Heerlen (Netherlands)
Cystic Mass on Right Atrium of Unusual Form of Chiari's Network: A Case Report
Chiari's networks are present in 1.5% to 4% of the population. They are a congenital disease characterized by a remnant of the right valve of sinus venosus and rarely have clinical significance. Chiari's network, as the name implies, has network-like shape, but there are other forms of appearance. We have experienced a case of a 60-year-old woman who had a cystic mass on the right atrium. Surgical treatment was performed forthe mass removal and differential diagnosis of the mass. There was no evidence of other tumor, but Chiari's network. As cystic form of Chiari's network have not been reported before, it is the first report of cystic form of Chiari's network.
Bae, Chi-Hoon; Lee, Sub; Lee, Chul Ho; Cho, Jun Woo
Image encryption by using gyrator transform and Arnold transform
NASA Astrophysics Data System (ADS)
We propose an optical image encryption algorithm based on Arnold transform and gyrator transform. The amplitude and phase, which are the outputs of gyrator transform, are separated into several sub-images. Arnold transform is introduced for scrambling the data of the sub-images. The random spectrum composed of the scrambled sub-images is transformed by gyrator transform. An iterative structure of the algorithm is designed for enhancing the security of the encryption algorithm. The parameters of gyrator transforms and separating scheme serve as the key of the encryption method. The encryption process can be implemented by an electro-optical setup. Some numerical simulations have been given to demonstrate the security and validity of this algorithm.
Liu, Zhengjun; Chen, Hang; Liu, Ting; Li, Pengfei; Xu, Lie; Dai, Jingmin; Liu, Shutian
Construction of Arnold tongue structures for coupled periodic oscillators
NASA Astrophysics Data System (ADS)
Arnold tongue structures generated due to the mutual entrainment of two periodic oscillators are studied experimentally and numerically. This mutual entrainment is provoked due to the mutual (bidirectional) coupling between the two oscillators. In experiments, this bidirectional coupling is achieved by immersing a pair of anodes (oscillators) in a common electrolytic solution. A voltage mismatch between these anodes renders the time period of the uncoupled oscillators non-identical. Moreover, the coupling strength between the two oscillators is uniquely determined by the Euclidean distance separating them. Systematically varying the distance between these two anodes as a function of their voltage mismatch, phase locked domains were located. Subsequently, Arnold tongue structures were constructed in the experiments. Numerical simulations, using a model for electrochemical corrosion, corroborate our experimental findings.
Montoya, Fernando; Rivera, M.; Escalona, J.; Parmananda, P.
Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.
We report on three patients with macrocephaly and polymicrogyria, and additional anomalies seen in megalencephaly polymicrogyria-polydactyly hydrocephalus (MPPH) and macrocephaly capillary malformation (MCM) syndromes. Based on their characteristic brain malformations they were originally diagnosed with MPPH. In one patient the phenotype evolved during early infancy, and ultimately resulted in a diagnosis of MCM. A second was prenatally diagnosed with MPPH, but postnatally visualized capillary malformations led to a diagnosis of MCM. In a third, the original MPPH diagnosis was reconsidered after a critical review revealed additional subtle findings suggestive of MCM. Characteristic brain malformations are thought to distinguish between MPPH with perisylvian polymicrogyria, and MCM with megalencephaly with Chiari 1 malformation. However, polymicrogyria was reported in a significant number of patients with MCM. Conversely, upon review of imaging studies of patients with MPPH, we noted progressive crowding of the posterior fossa and acquired tonsillar herniation, a process deemed characteristic for MCM. Thus, neither polymicrogyria nor acquired tonsillar herniation are distinguishing features, and occur in both disorders. In addition to brain abnormalities, shared findings include cognitive impairment, coarse facial features and postaxial polydactyly. Facial nevus flammeus and cutis marmorata are most noticeable in infancy, and ligamentous laxity and redundant soft tissue are somewhat subjective findings. While asymmetric overgrowth is considered typical for MCM, it is not universally present. These variable and subtle findings can be identified in patients with MPPH. We propose that MPPH and MCM may not represent distinct entities and that the term MPPH-CM syndrome be used to describe this spectrum. PMID:19353582
Gripp, Karen W; Hopkins, Elizabeth; Vinkler, Chana; Lev, Dorit; Malinger, Gustavo; Lerman-Sagie, Tally; Dobyns, William B
PEOPLE IN PHYSICS: Interview with Sir Arnold Wolfendale FRS
NASA Astrophysics Data System (ADS)
Sir Arnold Wolfendale was born on 25 June 1927, the son of Arnold and Doris Wolfendale. His BSc in Physics with First Class honours from the University of Manchester in 1948 was followed by a PhD in 1953 and a DSc in 1970. He was elected a Fellow of the Royal Society in 1977, and of the Royal Astronomical Society in 1973. In 1951 he married Audrey Darby, and they have twin sons. Sir Arnold's career has included lecturing posts at the Universities of Manchester, Durham, Ceylon and Hong Kong, and he was head of department at Durham. He retired from teaching in 1992 and was knighted in 1995. From 1991 to 1995 he was Astronomer Royal. Since 1996 he has been Professor of Experimental Physics with the Royal Institution of Great Britain. He has given lectures in many countries and in many places, and has had several books published on the subject of cosmic rays and astrophysics. He lives in Durham.
Wiltsher, Conducted by Nicholas
Color image encryption based on gyrator transform and Arnold transform
NASA Astrophysics Data System (ADS)
A color image encryption scheme using gyrator transform and Arnold transform is proposed, which has two security levels. In the first level, the color image is separated into three components: red, green and blue, which are normalized and scrambled using the Arnold transform. The green component is combined with the first random phase mask and transformed to an interim using the gyrator transform. The first random phase mask is generated with the sum of the blue component and a logistic map. Similarly, the red component is combined with the second random phase mask and transformed to three-channel-related data. The second random phase mask is generated with the sum of the phase of the interim and an asymmetrical tent map. In the second level, the three-channel-related data are scrambled again and combined with the third random phase mask generated with the sum of the previous chaotic maps, and then encrypted into a gray scale ciphertext. The encryption result has stationary white noise distribution and camouflage property to some extent. In the process of encryption and decryption, the rotation angle of gyrator transform, the iterative numbers of Arnold transform, the parameters of the chaotic map and generated accompanied phase function serve as encryption keys, and hence enhance the security of the system. Simulation results and security analysis are presented to confirm the security, validity and feasibility of the proposed scheme.
Sui, Liansheng; Gao, Bo
Uterine arteriovenous malformation.
Uterine arteriovenous malformation (AVM) is a little known condition of which, to date, very few cases have been described. It has a very diverse symptomatology, even though in most cases, it is diagnosed during a severe and acute haemorrhagic event. Its treatment can vary from expectant management to hysterectomy; however, current evidence suggests that the embolisation of uterine arteries is the most effective approach, especially if fertility is to be preserved. We present a case report classified as AVM, with additional images that show the appearance of this pathology in a short span of time. This case has a number of peculiarities: unusual persistence of human chorionic gonadotropin hormone (?-HCG), asymptomatic patient, quick establishment of the lesion and its duration with unchanging characteristics and finally its spontaneous resolution without further consequences. This entity shows an aetiopathogenesis, that is, not well established or described. We discuss its physiopathology and aetiopathogenesis. PMID:23396842
Sellers, Francisco; Palacios-Marqu�s, Ana; Moliner, Belen; Bernabeu, Rafael
What is a capillary malformation?
Today, the designation "capillary malformation" is widely used as a modern name for what was formerly called a nevus flammeus or port-wine stain. This new terminology, however, is inaccurate and ambiguous. There are at least nine different skin disorders fulfilling the criteria of a capillary malformation. Examples include nevus anemicus, cutis marmorata telangiectatica congenita, angiokeratoma circumscriptum, and several vascular lesions that, in the author's view, do not represent nevi, such as the nuchal or glabellar salmon patch and the cutaneous changes of Rendu-Osler disease. Hence, I propose that we should use "capillary malformation" as an umbrella term and not as a name for a specific cutaneous entity. PMID:19022106
Happle, Rudolf
Pathologie neurovasculaire malformative de�l'enfant : malformations an�vrismales de�la�veine de�Galien (MAVG), malformations art�rioveineuses piales (MAVP), malformations des�sinus duraux (MSD)
The purpose of this article is to give an overview of the cerebral and spinal cord pediatric malformations; we particularly describe three of them: Vein of Galen arteriovenous Malformation, Pial Arteriovenous Malformation, and Dural Sinus Malformation. We report the experience of Bic�tre since 1981 to 2003, with 317 VGAM, 302 Pial AVM and 30 DSM. We describe natural history, clinical
A. Ozanne; H. Alvarez; T. Krings; P. Lasjaunias
Fibrin sealant augmentation with autologous pericranium for duraplasty after suboccipital decompression in Chiari 1 patients: A case series
Background: The Chiari 1 malformation (CM1) involves decent of the tonsils of the cerebellum through the foramen magnum. Symptomatic disease requires a posterior fossa decompression with or without an expansile duraplasty. To date, the optimal surgical treatment for CM1 has not been delineated. The extent of bony removal, size of the dural opening, necessity for expansion of the dural space, choice of materials for the duraplasty, and possible need for augmentation with dural sealant are all factors that continue to be debated amongst neurological surgeons worldwide. We herein evaluate the use of fibrin sealant augmentation in combination with locally harvested autologous pericranium for duraplasty in adult CM1 decompression. Methods: Retrospective data collected from January 2006 to December 2011. Data were reviewed for surgical site infection or meningitis, cerebrospinal fluid leak, symptomatic pseudomeningocele, radiographic improvement of hindbrain compression, and postoperative recurrence of symptoms at a minimum of 1 year of follow-up. Outcomes were studied clinically, radiographically, as well as by using a patient-specific questionnaire. Results: Twenty-two consecutive patients were included. One patient required a revision for a delayed graft dehiscence in the setting of a rare form of aseptic meningitis with cerebrospinal fluid (CSF) pleocytosis due to a nonsteroidal anti-inflammatory drug (NSAID) allergy. All remaining patients had successful decompressions with full resolution of their symptoms except for one patient who had persistent headaches. Conclusion: Autologous pericranium with dural sealant augmentation is an effective technique for expansile duraplasty in CM1 decompressions.
Lam, Fred C.; Penumaka, Anirudh; Chen, Clark C.; Fischer, Edwin G.; Kasper, Ekkehard M.
Embolization of uterine arteriovenous malformation
Background: Uterine arteriovenous malformation is a rare but potential life-threatening source of bleeding. A high index of suspicion and accurate diagnosis of the condition in a timely manor are essential because instrumentation that is often used for other sources of uterine bleeding can be lead to massive hemorrhage. Case: We describe here a case of uterine arteriovenous malformation. A 32-year-old woman presented abnormal vaginal bleeding following the induced abortion. A diagnosis of uterine arteriovenous malformation made on the basis of Doppler ultrasonraphy was confirmed through pelvic angiography. The embolization of bilateral uterine arteries was performed successfully. Conclusion: Uterine arteriovenous malformation should be suspected in patient with abnormal vaginal bleeding, especially who had the past medical history incluing cesarean section, induced abortion, or Dillation and Curethage and so on. Although angiography remains the gold standard, Doppler ultrasonography is also a good noninvasive technique. The transcatheter uterine artery embolization offers a safe and effective treatment
Chen, Yan; Wang, Guoyun; Xie, Fubo; Wang, Bo; Tao, Guowei; Kong, Beihua
MRCP of congenital pancreaticobiliary malformation
\\u000a Abstract\\u000a Background��Congenital pancreaticobiliary malformations are sometimes associated with acute or chronic pancreatitis and biliary carcinoma. Currently, MRCP is one of the first choices for investigating and diagnosing pancreaticobiliary diseases noninvasively. We compared the accuracy of conventional MRCP and ERCP in making the diagnosis of congenital pancreaticobiliary malformations.Methods��In patients with pancreas divisum (n�=�17), pancreaticobiliary maljunction (n�=�12), choledochocele (n�=�2) and annular pancreas
T. Kamisawa; Y. Tu; N. Egawa; K. Tsuruta; A. Okamoto; N. Kamata
Congenital malformations of human dermatoglyphs
A classification for congenital malformations of dermatoglyphs is presented, dividing them into ridge aplasia, ridge hypoplasia, ridge dissociation, ridges-off-the-end, and a combination of the last two. The medical and genetic significance of these are considered in the light both of previous published cases and of new material. Malformations of dermatoglyphs are important as physical signs in paediatric diagnosis. ImagesFIG. 1FIG. 2FIG. 3FIG. 4FIG. 5FIG. 6FIG. 7
David, T. J.
An Awkward Echo: Matthew Arnold and John Dewey. Research in Curriculum and Instruction
ERIC Educational Resources Information Center
Matthew Arnold, 19th century English poet, literary critic and school inspector, felt that each age had to determine that philosophy that was most adequate to its own concerns and contexts. This study looks at the influence that Matthew Arnold had on John Dewey and attempts to fashion a philosophy of education that is adequate for our own�
Dietz, Mark David
Cervicofacial Venous Malformations
Summary We retrospectively evaluated 53 consecutive patients with cervicofacial venous malformation who had sclerotherapy. This review included a demographic analysis, MRI reexamination and tabulation of interventional therapeutic strategies. All patients whose MRI studies were included in this review demonstrated characteristic findings: space occupying lesion with hyperintense T2 signal abnormality, patchy contrast enhancement, and no flow signal on the gradient echo images. We concluded that a complete MRI work-up of these patients requires post-contrast scanning and gradient-echo imaging in addition to the standard T1 and T2 weighted spin echo imaging. The majority of patients had sporadic (non-familial) venous anomalies. Sinus pericranii (SP) was identified in six patients (11%) and blue rubber bleb nevus syndrome (BRB-NS) was found in two patients (4%). MRI findings of sinus pericranii are discussed in detail. Although sodium tetradecyl and/or absolute ethanol are the most commonly used sclerosants, a wide variety of therapeutic strategies (depending on the nature of the abnormality) are also needed for these patients.
Konez, O.; Burrows, P. E.; Mulliken, J.B.
Pulmonary arteriovenous malformations.
Pulmonary arteriovenous malformations (PAVMs) are abnormal vascular structures that most often connect a pulmonary artery to a pulmonary vein, bypassing the normal pulmonary capillary bed and resulting in an intrapulmonary right-to-left shunt. As a consequence, patients with PAVM can have hypoxemia and paradoxical embolization complications, including stroke and brain abscess. PAVMs may be single or multiple, unilateral or bilateral, and simple or complex. Most PAVMs are hereditary and occur in hereditary hemorrhagic telangiectasia, an autosomal dominant vascular disorder, and screening for PAVM is indicated in this subgroup. PAVMs may also be idiopathic, occur as a result of trauma and infection, or be secondary to hepatopulmonary syndrome and bidirectional cavopulmonary shunting. Diagnostic testing involves identifying an intrapulmonary shunt, with the most sensitive test being transthoracic contrast echocardiography. Chest CT scan is useful in characterizing PAVM in patients with positive intrapulmonary shunting. Transcatheter embolotherapy is the treatment of choice for PAVM. Lifelong follow-up is important because recanalization and collateralization may occur after embolization therapy. Surgical resection is rarely necessary and reserved for patients who are not candidates for embolization. Antibiotic prophylaxis for procedures with a risk of bacteremia (eg, dental procedures) is recommended in all patients with PAVM because of the risk of cerebral abscess. PMID:24008954
Cartin-Ceba, Rodrigo; Swanson, Karen L; Krowka, Michael J
Progressive tentorial cavernous malformation
Background: Because extra-axial cavernous malformations (CMs) are rare, the common clinical course remains unclear. We report the case of a patient with progressive CM originating from the cerebellar tentorium. Case Description: A 64-year-old woman was admitted to our hospital with the complaint of diplopia. Magnetic resonance (MR) imaging revealed a lesion attached to the left cerebellar tentorium, close to the cerebral peduncle. This well-demarcated lesion rapidly enlarged for 3 months and eroded into the midbrain. Cerebral angiography showed a branch of the middle meningeal artery supplying the lesion and pooling of the contrast medium in the venous phase. A dark reddish and mulberry-like mass of the tentorium was observed intraoperatively, allowing the diagnosis of a tentorial CM. The feeding artery was identified in the tentorium and was coagulated. Postoperative MR imaging showed remarkable mass reduction and central necrosis of the lesion. However, the lesion recurred in 3 months; consequently, gamma knife radiosurgery was performed. After an additional 2 months, the lesion shrank in response to the radiosurgery. Conclusions: We report an extremely rare case of tentorial CM which showed rapid growth in a short period. Coagulation of the feeding artery was not sufficient to control the lesion. Gamma knife radiosurgery may prove highly effective for recurrent lesions.
Furuta, Takuya; Nakada, Mitsutoshi; Watanabe, Takuya; Hayashi, Yutaka; Hamada, Jun-Ichiro
Pediatric dural arteriovenous malformations.
Pediatric dural arteriovenous malformations (dAVMs) are rare lesions that have a high mortality rate and require complex management. The authors report 3 cases of pediatric dAVMs that presented with macrocrania and extracranial venous distension. Dural sinus thrombosis developed in 2 of the cases prior to any intervention, which is an unusual occurrence for this particular disease. All 3 cases were treated using staged endovascular embolization with a favorable outcome in 1 case and a poor outcome in the other 2 cases. Complications developed in all cases and included dural sinus thrombosis, parenchymal hemorrhage, intracranial venous hypertension, and seizures. The strategies and challenges used in managing these patients will be presented and discussed, along with a review of the literature. While outcomes remain poor, the authors conclude that prompt treatment with endovascular embolization provides the best results for children with these lesions. A well-established venous collateral circulation draining directly to the internal jugular veins may further improve the rate of favorable outcome after embolization. PMID:24867128
Appaduray, Shaun P; King, James A J; Wray, Alison; Lo, Patrick; Maixner, Wirginia
Genetic malformations of cortical development.
The malformations of the cerebral cortex represent a major cause of developmental disabilities, severe epilepsy and reproductive disadvantage. The advent of high-resolution MRI techniques has facilitated the in vivo identification of a large group of cortical malformation phenotypes. Several malformation syndromes caused by abnormal cortical development have been recognised and specific causative gene defects have been identified. Periventricular nodular heterotopia (PNH) is a malformation of neuronal migration in which a subset of neurons fails to migrate into the developing cerebral cortex. X-linked PNH is mainly seen in females and is often associated with focal epilepsy. FLNA mutations have been reported in all familial cases and in about 25% of sporadic patients. A rare recessive form of PNH due ARGEF2 gene mutations has also been reported in children with microcephaly, severe delay and early seizures. Lissencephaly-pachygyria and subcortical band heterotopia (SBH) are disorders of neuronal migration and represent a malformative spectrum resulting from mutations of either LIS1 or DCX genes. LIS1 mutations cause a more severe malformation in the posterior brain regions. Most children have severe developmental delay and infantile spasms, but milder phenotypes are on record, including posterior SBH owing to mosaic mutations of LIS1. DCX mutations usually cause anteriorly predominant lissencephaly in males and SBH in female patients. Mutations of DCX have also been found in male patients with anterior SBH and in female relatives with normal brain magnetic resonance imaging. Autosomal recessive lissencephaly with cerebellar hypoplasia, accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the reelin (RELN) gene. X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia in genotypic males is associated with mutations of the ARX gene. Affected boys have severe delay and seizures with suppression-burst EEG. Early death is frequent. Carrier female patients can have isolated corpus callosum agenesis. Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria shows genetic heterogeneity, including linkage to chromosome Xq28 in some pedigrees, autosomal dominant or recessive inheritance in others, and an association with chromosome 22q11.2 deletion in some patients. About 65% of patients have severe epilepsy. Recessive bilateral frontoparietal polymicrogyria has been associated with mutations of the GPR56 gene. Epilepsy is often present in patients with cortical malformations and tends to be severe, although its incidence and type vary in different malformations. It is estimated that up to 40% of children with drug-resistant epilepsy have a cortical malformation. However, the physiopathological mechanisms relating cortical malformations to epilepsy remain elusive. PMID:16724181
Guerrini, Renzo; Marini, Carla
Why study human limb malformations?
Congenital limb malformations occur in 1 in 500 to 1 in 1000 human live births and include both gross reduction defects and more subtle alterations in the number, length and anatomy of the digits. The major causes of limb malformations are abnormal genetic programming and intra-uterine disruption to development. The identification of causative gene mutations is important for genetic counselling and also provides insights into the mechanisms controlling limb development. This article illustrates some of the lessons learnt from the study of human limb malformation, organized into seven categories. These are: (1) identification of novel genes, (2) allelic mutation series, (3) pleiotropy, (4) qualitative or (5) quantitative differences between mouse and human development, (6) physical and teratogenic disruption, and (7) unusual biological phenomena.
Wilkie, Andrew OM
In utero Repair of Myelomeningocele: Rationale, Initial Clinical Experience and a Randomized Controlled Prospective Clinical Trial
Myelomeningocele (MMC), one of the most common congenital malformations, can result in severe lifelong disabilities, including paraplegia, hydrocephalus, Arnold-Chiari II malformation, incontinence, sexual dysfunction, skeletal deformations, and mental impairment. MMC was the first nonlethal anomaly to be treated by fetal surgery. Studies in animals provide compelling evidence that the primary cause of the neurological deficit associated with MMC is not simply incomplete neurulation but rather chronic mechanical injury and amniotic-fluid-induced chemical trauma that progressively damage the exposed neural tissue during gestation. Initial results suggest that the surgical repair of MMC before 25 weeks of gestation may preserve neurological function, reverse the hindbrain herniation of the Arnold-Chiari II malformation, and obviate the need for postnatal placement of a ventriculoperitoneal shunt. As it is currently unknown whether fetal surgery for MMC is truly beneficial compared to standard postnatal care, a randomized, controlled clinical trial has been initiated within the United States.
Danzer, Enrico; Flake, Alan W.
Surgical removal of striate arteriovenous malformations.
Some arteriovenous malformations fed by the striate arteries and lying within the claustrolenticular region can be excised by using microsurgical techniques. Three patients operated on with successful removal of the malformation are discussed here. PMID:7444736
Viale, G L; Turtas, S; Pau, A
MRCP of congenital pancreaticobiliary malformation
Background��Congenital pancreaticobiliary malformations are sometimes associated with acute or chronic pancreatitis and biliary carcinoma.\\u000a Currently, magnetic resonance cholangiopancreatography (MRCP) is one of the first choices for investigating and diagnosing\\u000a pancreaticobiliary diseases noninvasively. We compared the accuracy of conventional MRCP and endoscopic retrograde cholangiopancreatography\\u000a (ERCP) in making the diagnosis of congenital pancreaticobiliary malformations.\\u000a \\u000a \\u000a \\u000a Methods��In patients with pancreas divisum (n = 17),
T. Kamisawa; Y. Tu; N. Egawa; K. Tsuruta; A. Okamoto; N. Kamata
[Clinical aspects of capillary malformations].
Capillary malformations (CM) are defects of the dermal capillary bed. These slow-flow malformations can affect any part of the body and are always lateralized, despite Unna's naevus. Present at birth, they grow proportionally with the child. In rare instance, they can be part of a more complex syndrome such as Sturge-Weber syndrome. Ectatic CMs of telangiectatic types can be cutaneous, isolated, multiples, diffuse or generalized. In rare instance, they can be associated with epidermal modifications. They can also be part of a syndrome such as Fabry disease, Osler-Weber-Rendu disorder or Cutis marmorata telangiectatica congenita (CMTC). This chapter details the various clinical aspects of CMs. PMID:17007980
Bataille, A-C; Boon, L-M
An update on management of Budd-Chiari syndrome.
The topic of this paper is to report an update on management of Budd-Chiari syndrome (BCS). Actually, the flow-chart of BCS management comes from experts opinion and is not evidence-based due to the rarity of BCS. Management of BCS follows a step-wise strategy. Anticoagulation and medical therapy should be the first line treatment. Revascularization or TIPS in case of no response to medical therapy. OLT as a rescue therapy. Surgery has limited but important space, especially in cases with high inferior vena cava obstruction not suitable for endovascular treatment. However, no clear indication can actually be given about the timing of different treatments. Moreover, there is some concern about treatment of some subgroup of patients, especially regarding the risk of recurrence after liver transplantation. This paper propose a new algorithm of BCS management suggesting an earlier therapeutic approach when clinical signs are evident. PMID:24756006
Mancuso, Andrea
Congenital malformations associated with anencephaly and iniencephaly
The necropsy reports of 294 cases of anencephaly and 50 cases of iniencephaly have been examined, and a tubulated list of associated malformations produced. Cases were divided by sex and the presence or absence of spina bifida. Forty-one per cent of the series had other malformations, and other malformations were more common in those cases with spina bifida than in
T J David; A Nixon
Abernethy malformation: a case report
Background Abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. It is commonly associated with multiple congenital anomalies. We present a case of Abernethy malformation, without associated congenital anomalies from India. Case presentation A 5-year-old female child presented with short history of jaundice. A provisional diagnosis of acute viral hepatitis was made in view of clinical presentation and local endemicity of viral hepatitis A. Persistence of jaundice on follow up after 4?weeks led to detailed investigations. Ultrasound and doppler study of abdomen revealed drainage of portal vein into inferior vena cava. CT angiography was performed which confirmed the diagnosis of Type 1 b Abernethy malformation without associated major anomalies. We discuss the common clinical presentations, associated anomalies, diagnostic workup and treatment options of this disorder. Conclusion The treatment of the patients with congenital porto-systemic shunts depends on the site of the shunt, associated congenital anomalies and the extent of liver damage but the prognosis depends on the complications irrespective of anatomical type. However, the extent of associated abnormalities should not deter paediatricians to refer patients for treatment. Whenever possible closure of the shunt should be advised for cure or to prevent complications. Only symptomatic type I patients with absence of possibility to close the shunt may require liver transplant. Long-term follow-up is indicated for all patients.
[Antiepileptic drugs and congenital malformations].
BACKGROUND In pregnant women with epilepsy the use of antiepileptic drugs may increase the risk of harming the foetus. For the treating neurologist it may be challenging to find a balance between optimal seizure control and the lowest possible drug dosage. The aim of this study was to assess the prevalence and type of congenital malformations in children exposed to antiepileptic drugs during pregnancy.MATERIAL AND METHOD In Norway we have prospectively followed 813 pregnancies in women with epilepsy as part of an international cohort study. The women had three check-ups during the pregnancy, and the children were followed up twice during their first year of life.RESULTS We found a total of 34 congenital malformations in the children, of which 12 were heart defects, yielding a malformation rate of 4.5�%. Six of the malformations (18�%) were detected prenatally, 20 (59�%) were reported immediately after birth, and eight (24�%) were discovered during the child's first year of life.INTERPRETATION Our study shows that 95.5�%.of the women included who used antiepileptic drugs during pregnancy gave birth to a healthy child. This Norwegian cohort is too small to evaluate the teratogenic risk associated with the individual drugs. PMID:24989202
Nakken, Karl O; Lillest�len, Kari Mette; Brodtkorb, Eylert; Svendsen, Torleiv; Haggag, Kathrine Johannessen; Taub�ll, Erik
Occult vascular malformations and seizures.
Occult vascular malformations are frequently associated with intractable seizures and are a common cause of lesional epilepsy. MR imaging can identify and characterize these lesions with accuracy. The presurgical evaluation must be tailored to the individual patient's presentation and circumstances. Surgical results following lesionectomy plus corticectomy may be slightly superior to lesionectomy alone, but the overall prognosis is excellent. PMID:10419577
Cosgrove, G R
Reconstruction of middle ear malformations.
Malformations of the middle ear are classified as minor and major malformations. Minor malformations appear with regular external auditory canal, tympanic membrane and aerated middle ear space. The conducting hearing loss is due to fixation or interruption of the ossicular chain. The treatment is surgical, following the rules of ossiculoplasty and stapes surgery. In major malformations (congenital aural atresia) there is no external auditory canal and a deformed or missing pinna. The mastoid and the middle ear space may be underdevelopped, the ossicular chain is dysplastic. Surgical therapy is possible in patients with good aeration of the temporal bone, existing windows, a near normal positioned facial nerve and a mobile ossicular chain. Plastic and reconstructive surgery of the pinna should proceed the reconstruction of the external auditory canal and middle ear. In cases of good prognosis unilateral aural atresia can be approached already in childhood. In patients with high risk of surgical failure, bone anchored hearing aids are the treatment of choice. Recent reports of implantable hearing devices may be discussed as an alternative treatment for selected patients. PMID:22073077
Schwager, Konrad
Quantum Transport in Quantum Billiards:. from Kelvin Through Arnold
NASA Astrophysics Data System (ADS)
Dynamics of billiard balls and its role in physics have received a wide attention since the monumental lecture by Lord Kelvin at the turn of the 19-th century. Billiards can nowadays be created as quantum dots or antidots in the microscopic world, and one can envisage the quantum-mechanical manifestation of chaos of billiard balls. We show two interesting themes bridging between nonlinear dynamics and quantum transport in these mesoscopic billiards: For antidot lattices, the experimentally-observed anomalous fluctuations in the magneto-resistivity are attributed to orbit bifurcations; for 3-dimensional quantum dots, the Arnold diffusion is pointed out to have a possibility to yield the enhanced magneto-resistance beyond the weak localization correction.
Nakamura, Katsuhiro
Optical image encryption using multilevel Arnold transform and noninterferometric imaging
NASA Astrophysics Data System (ADS)
Information security has attracted much current attention due to the rapid development of modern technologies, such as computer and internet. We propose a novel method for optical image encryption using multilevel Arnold transform and rotatable-phase-mask noninterferometric imaging. An optical image encryption scheme is developed in the gyrator transform domain, and one phase-only mask (i.e., phase grating) is rotated and updated during image encryption. For the decryption, an iterative retrieval algorithm is proposed to extract high-quality plaintexts. Conventional encoding methods (such as digital holography) have been proven vulnerably to the attacks, and the proposed optical encoding scheme can effectively eliminate security deficiency and significantly enhance cryptosystem security. The proposed strategy based on the rotatable phase-only mask can provide a new alternative for data/image encryption in the noninterferometric imaging.
Chen, Wen; Chen, Xudong
"Tangible as tissue": Arnold Gesell, infant behavior, and film analysis.
From 1924 to 1948, developmental psychologist Arnold Gesell regularly used photographic and motion picture technologies to collect data on infant behavior. The film camera, he said, records behavior "in such coherent, authentic and measurable detail that ... the reaction patterns of infant and child become almost as tangible as tissue." This essay places his faith in the fidelity and tangibility of film, as well as his use of film as evidence, in the context of developmental psychology's professed need for legitimately scientific observational techniques. It also examines his use of these same films as educational material to promote his brand of scientific child rearing. But his analytic techniques - his methods of extracting data from the film frames - are the key to understanding the complex relationship between his theories of development and his chosen research technology. PMID:21995223
Curtis, Scott
On the arc filtration for the singularities of Arnold's lists
NASA Astrophysics Data System (ADS)
In a previous paper, the authors introduced a filtration on the ring {cal O}_{V,0} of germs of functions on a germ (V,0) of a complex analytic variety defined by arcs on the singularity and called the arc filtration. The Poincar� series of this filtration were computed for simple surface singularities in the 3-space. Here they are computed for surface singularities from Arnold's lists including uni- and bimodular ones. The classification of the unimodular singularities by these Poincar� series turns out to be in accordance with their hierarchy defined by E. Brieskorn using the adjacency relations. We also give a general formula for the Poincar� series of the arc filtration for isolated surface singularities which are stabilizations of plane curve ones.
Ebeling, Wolfgang; Gusein-Zade, Sabir M.
Arteriovenous malformation of the oral cavity.
Vascular anomalies are a heterogeneous group of congenital blood vessel disorders more typically referred to as birthmarks. Subcategorized into vascular tumors and malformations, each anomaly is characterized by specific morphology, pathophysiology, clinical behavior, and management approach. Hemangiomas are the most common vascular tumors. Lymphatic, capillary, venous, and arteriovenous malformations make up the majority of vascular malformations. Arteriovenous malformation of the head and neck is a rare vascular anomaly but when present is persistent and progressive in nature and can represent a lethal benign disease. Here we present a case report of a 25-year-old male patient with arteriovenous malformation involving the base of tongue. PMID:24660070
Manjunath, S M; Shetty, Sujan; Moon, Ninad J; Sharma, Bhushan; Metta, Kiran Kumar; Gupta, Nitin; Goyal, Sandeep; Singh, Simranjit
A chromosomal deletion map of human malformations.
Malformations are common causes of pediatric morbidity and mortality, and genetic factors are a significant component of their etiology. Autosomal deletions, in almost all cases, cause a nonspecific embryopathy that presents after birth as growth failure, mental retardation, and multiple malformations. We have constructed a chromosome map of autosomal deletions associated with 47 different congenital malformations, using detailed clinical and cytogenetic information on 1,753 patients with nonmosaic single contiguous autosomal deletions. The 1,753 deletions involved 258 (89%) of 289 possible autosomal bands (by the use of ISCN 400-band nomenclature), giving a total of 4,190 deleted autosomal bands for analysis. We compared the band distributions of deletions associated with common major malformations with the distribution of all 1,753 deletions. We noted 283 positive associations between deleted bands and specific malformations, of which 199 were significant (P<.05, P>.001) and 84 were highly significant (P<.001). These "malformation-associated bands" (MABs) were distributed among 137 malformation-associated chromosome regions (MACRs). An average of 6 MABs in 2.9 MACRs were detected per malformation studied; 18 (6%) of 283 MABs contain a locus known to be associated with the particular malformation. A further 18 (6%) of 283 are in seven recognized specific malformation-associated aneuploid regions. Therefore, 36 (26%) of 137 of the MACRs contain an MAB coinciding with a previously recognized locus or malformation-associated aneuploid region. This map should facilitate identification of genes important in human development.
Brewer, C; Holloway, S; Zawalnyski, P; Schinzel, A; FitzPatrick, D
Diagnosis and surgical treatment of a Chiari I-like malformation in an African lion (Panthera leo)
A 13-mo-old intact male African lion (Panthera leo) presented with a 3-mo history of lethargy, ventral flexion of the neck, abnormal vocalization, and ataxia. Hemogram and serum biochemistries were within normal limits except for the presence of hypokalemia (2.7 mEq\\/L) and hypochloridemia (108 mEq\\/L). When no improvement was noted with oral potassium gluconate supplementation, a computed tomography scan of the
Stephanie McCain; Marcy J. Souza; Edward C Ramsay; Juergen Schumacher; William B Thomas; Silke Hecht
Confirmatory Factor Analysis of Arnold et�al.�s Parenting Scale Across Race, Age, and Sex
We used confirmatory factor analysis (CFA) to investigate the factor structure of several models of Arnold et�al.�s Parenting\\u000a Scale [Arnold et al. (1993). Psychological Assessment, 5, 137�144] across children from various age groups and races. Participants were parents of children (ages 2�16�years) presenting\\u000a to four community-based pediatric practices for routine care. Parents completed questionnaires pertaining to various aspects\\u000a of parenting
Bryan T. Karazsia; Manfred H. M. van Dulmen; Beth G. Wildman
Delamination technique together with longitudinal incisions for treatment of Chiari I/syringomyelia complex: a prospective clinical study
Background Treatment modalities in Chiari malformation type 1(CMI) accompanied by syringomyelia have not yet been standardized. Pathologies such as a small posterior fossa and thickened dura mater have been discussed previously. Various techniques have been explored to enlarge the foramen magnum and to expand the dura. The aim of this clinical study was to explore a new technique of excision of the external dura accompanied by widening the cisterna magna and making longitudinal incisions in the internal dura, without disturbing the arachnoid. Methods Ten patients with CMI and syringomyelia, operated between 2004 and 2006, formed this prospective series. All cases underwent foramen magnum decompression of 3 � 3 cm area with C1�C2 (partial) laminectomy, resection of foramen magnum fibrous band, excision of external dura, delamination and widening of internal dura with longitudinal incisions. Results Patients were aged between 25 and 58 years and occipital headache was the most common complaint. The mean duration of preoperative symptoms was 4 years and the follow-up time was 25 months. Clinical progression was halted for all patients; eight patients completely recovered and two reported no change. In one patient, there was a transient cerebrospinal fluid (CSF) fistula that was treated with tissue adhesive. While syringomyelia persisted radiologically with radiological stability in five patients; for three patients the syringomyelic cavity decreased in size, and for the remaining two it regressed completely. Conclusion Removal of the fibrous band and the outer dural layer, at level of foramen magnum, together with the incision of inner dural layer appears to be good technique in adult CMI patients. The advantages are short operation time, no need for duraplasty, sufficient posterior fossa decompression, absence of CSF fistulas as a result of extra arachnoidal surgery, and short duration of hospitalization. Hence this surgical technique has advantages compared to other techniques.
Kotil, Kadir; Ton, Tugrul; Tari, Rabia; Savas, Yildiray
Budd-Chiari syndrome as an initial presentation of hepatocellular carcinoma: a case report.
We report the case of a 84-year-old admitted with symptoms of congestive heart failure. Ultrasonography revealed a hyperechoic nodule in the left lobe of the liver, with a peripheral hypoechoic rim, multiple irregular hypoechoic nodules in both hepatic lobes, portal vein, inferior vena cava, and right atrium thrombosis. On ultrasonographic and alpha-fetoprotein criteria the case was interpreted as hepatocellular carcinoma with Budd-Chiari syndrome. The particularity of the case is the initial presentation of the hepatocellular carcinoma as Budd-Chiari syndrome. The inferior vena cava and right atrium thrombosis, as a cause of secondary Budd-Chiari syndrome in a patient with hepatocellular carcinoma, has been rarely reported. PMID:24791850
B?l?ceanu, Lavinia Alice; Diaconu, Camelia Cristina; Aron, Gheorghi?a
Drug-Induced (Thalidomide) Malformations
Phocomelia (flipper-like limbs) has long been recognized as a rare malformation. Numerous cases of phocomelia and other congenital malformations have recently been reported in the United Kingdom, Australia, Europe and Canada in which the common factor appears to have been the administration of the hypnotic compound thalidomide during early pregnancy. Two additional cases of infants born with phocomelia, amelia and alimentary abnormalities are presented. In both of these cases the administration of thalidomide was initiated early during pregnancy (five to eight weeks after the last normal menstrual period) and maintained for several weeks. Thalidomide (alpha-phthalimido glutarimide) is related chemically to other glutarimides currently in clinical use. The possibility that these compounds and/or their metabolites may induce teratogenic effects warrants consideration. Emphasis is added to the view that caution should be exercised when prescribing new drugs. ImagesFig. 1Fig. 2
Ing, George M.; Olman, C. L.; Oyd, John R.
Interventional therapeutic techniques in Budd-Chiari syndrome
Purpose. To analyze the results obtained with percutaneous therapeutic procedures in patients with Budd-Chiari syndrome (BCHS). Methods. Between August 1991 and April 1993, seven patients with BCHS were treated in our hospital. Three presented with a congenital web; in another three cases the hepatic veins and/or the inferior vena cava (IVC) were compromised after major hepatic surgery; one patient presented with a severe stenosis of the intrahepatic IVC due to hepatomegaly. Results. One of the patients with congenital web has required several new dilatations due to restenosis; one patient required a transjugular intrahepatic portosystemic shunt procedure while awaiting a liver transplantation. The two postsurgical patients with stenosed hepatic veins did not require any new procedure after the placement of metallic endoprostheses. However, the patient with liver transplantation presented IVC restenosis after balloon angioplasty that required the deployment of metallic endoprostheses. In the patient with hepatomegaly a self-expandable prosthesis was placed in the intrahepatic portion of the IVC before (4 months) a liver transplantation. Conclusion. Interventional therapeutic techniques offer a wide variety of possibilities for the treatment of patients with BCHS. For IVC stenoses, the results obtained with balloon angioplasty are at least as good as those obtained with surgery.
Bilbao, Jose Ignacio; Pueyo, Jesus Ciro; Longo, Jesus Maria; Arias, Mercedes [Universidad de Navarra, Department of Radiology, Clinica Universitaria, Facultad de Medicina (Spain); Herrero, Jose Ignacio [Universidad de Navarra, Department of Internal Medicine, Clinica Universitaria, Facultad de Medicina (Spain); Benito, Alberto; Barettino, Maria Dolores; Perotti, Juan Pablo [Universidad de Navarra, Department of Radiology, Clinica Universitaria, Facultad de Medicina (Spain); Pardo, Fernando [Universidad de Navarra, Department of Surgery, Clinica Universitaria, Facultad de Medicina (Spain)
Intrauterine Growth Retardation Associated with Uterine Malformations
Intrauterine growth retardation is caused by factors that prevent adequate fetal nourishment or by factors that intrinsically affect the fetus. Limited available space due to a congenitally malformed uterus may prevent normal intrauterine development. Two cases are presented here. A review of the available literature confirms the tendency of women with congenital uterine malformations to have smaller offspring. Intrauterine growth retardation should be added to the more commonly known complications associated with a congenitally malformed uterus. ImagesFigure 1Figure 2
Poma, Pedro A.
Noncardiac Malformations at Major Congenital Heart Defects
.�� Using the Swedish Cardiology Registry and the Registry of Congenital Malformations, and after excluding infants with a known\\u000a chromosomal anomaly, data on 397 infants (15%) born during the period 1981�1990 with a major cardiac defect and at least one\\u000a noncardiac malformation were analyzed. No clear-cut association appeared between specific heart defects and major groups of\\u000a noncardiac malformations except for
P. Pradat
The quantum realization of Arnold and Fibonacci image scrambling
NASA Astrophysics Data System (ADS)
The quantum Fourier transform, the quantum wavelet transform, etc., have been shown to be a powerful tool in developing quantum algorithms. However, in classical computing, there is another kind of transforms, image scrambling, which are as useful as Fourier transform, wavelet transform, etc. The main aim of image scrambling, which is generally used as the preprocessing or postprocessing in the confidentiality storage and transmission, and image information hiding, was to transform a meaningful image into a meaningless or disordered image in order to enhance the image security. In classical image processing, Arnold and Fibonacci image scrambling are often used. In order to realize these two image scrambling in quantum computers, this paper proposes the scrambling quantum circuits based on the flexible representation for quantum images. The circuits take advantage of the plain adder and adder modulo N to factor the classical transformations into basic unitary operators such as Control-NOT gates and Toffoli gates. Theoretical analysis indicates that the network complexity grows linearly with the size of the number to be operated.
Jiang, Nan; Wu, Wen-Ya; Wang, Luo
Plasma Propulsion Testing Capabilities at Arnold Engineering Development Center
NASA Technical Reports Server (NTRS)
This paper describes the results of a series of experiments aimed at quantifying the plasma propulsion testing capabilities of a 12-ft diameter vacuum facility (12V) at USAF-Arnold Engineering Development Center (AEDC). Vacuum is maintained in the 12V facility by cryogenic panels lining the interior of the chamber. The pumping capability of these panels was shown to be great enough to support plasma thrusters operating at input electrical power >20 kW. In addition, a series of plasma diagnostics inside the chamber allowed for measurement of plasma parameters at different spatial locations, providing information regarding the chamber's effect on the global plasma thruster flowfield. The plasma source used in this experiment was Hall thruster manufactured by Busek Co. The thruster was operated at up to 20 kW steady-state power in both a lower current and higher current mode. The vacuum level in the chamber never rose above 9 x 10(exp -6) torr during the course of testing. Langmuir probes, ion flux probes, and Faraday cups were used to quantify the plasma parameters in the chamber. We present the results of these measurements and estimates of pumping speed based on the background pressure level and thruster propellant mass flow rate.
Polzin, Kurt A.; Dawbarn, Albert; Moeller, Trevor
The quantum realization of Arnold and Fibonacci image scrambling
NASA Astrophysics Data System (ADS)
The quantum Fourier transform, the quantum wavelet transform, etc., have been shown to be a powerful tool in developing quantum algorithms. However, in classical computing, there is another kind of transforms, image scrambling, which are as useful as Fourier transform, wavelet transform, etc. The main aim of image scrambling, which is generally used as the preprocessing or postprocessing in the confidentiality storage and transmission, and image information hiding, was to transform a meaningful image into a meaningless or disordered image in order to enhance the image security. In classical image processing, Arnold and Fibonacci image scrambling are often used. In order to realize these two image scrambling in quantum computers, this paper proposes the scrambling quantum circuits based on the flexible representation for quantum images. The circuits take advantage of the plain adder and adder modulo to factor the classical transformations into basic unitary operators such as Control-NOT gates and Toffoli gates. Theoretical analysis indicates that the network complexity grows linearly with the size of the number to be operated.
Jiang, Nan; Wu, Wen-Ya; Wang, Luo
Coexistence of homozygous factor V Leiden mutation and antiphospholipid antibodies in two patients presented with Budd-Chiari syndrome.
Two female patients are reported, who presented with Budd-Chiari syndrome (hepatic vein thrombosis), and were found to have both, antiphospholipid antibodies and homozygous factor V Leiden mutation. Both patients also had recurrent fetal losses, as well as splenic and portal vein thrombosis. The coexistence of homozygous factor V Leiden mutation and antiphospholipid antibodies in patients with Budd-Chiari syndrome is extremely rare. The interaction of antiphospholipid antibodies and factor V Leiden mutation in the pathogenesis of antiphospholipid syndrome and their contribution to Budd-Chiari syndrome are discussed. PMID:12243558
Diz-Kucukkaya, Reyhan; Demir, Kadir; Yenerel, Mustafa N; Nalcaci, Meliha; Kaymakoglu, Sabahattin; Inanc, Murat
Diffuse malformations of cortical development.
Malformations of cortical development (MCD) represent a major cause of developmental disabilities and severe epilepsy. Advances in imaging and genetics have improved the diagnosis and classification of these conditions. Up to now, eight genes have been involved in different types of MCD. Lissencephaly-pachygyria and subcortical band heterotopia (SBH) represent a malformative spectrum resulting from mutations of either LIS1 or DCX genes. LIS1 mutations cause a more severe malformation in the posterior brain regions. DCX mutations usually cause anteriorly predominant lissencephaly in males and SBH in female patients. Additional forms are X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia associated with mutations of the ARX gene. Lissencephaly with cerebellar hypoplasia (LCH) encompass heterogeneous disorders named LCH types a to d. LCHa is related to mutation in LIS1 or DCX, LCHb with mutation of the RELN gene, and LCHd could be related to the TUBA1A gene. Polymicrogyria encompasses a wide range of clinical, etiological, and histological findings. Among several syndromes, recessive bilateral fronto-parietal polymicrogyria has been associated with mutations of the GPR56 gene. Bilateral perisylvian polymicrogyria has been associated with mutations in the SRPX2 gene in a few individuals and with linkage to chromosome Xq28 in a some other families. X-linked bilateral periventricular nodular heterotopia (PNH) consists of PNH with focal epilepsy in females and prenatal lethality in males. Filamin A (FLNA) mutations have been reported in some families and in sporadic patients. It is possible to infer the most likely causative gene by brain imaging studies and other clinical findings. PMID:23622213
Bahi-Buisson, Nadia; Guerrini, Renzo
Orbital arteriovenous malformation mimicking cavernous sinus dural arteriovenous malformation
AIMS�Orbital arteriovenous malformations (OAVM) are rare, mostly described with high flow characteristics. Two cases are reported with an OAVM of distinct haemodynamic abnormality. The clinical, angiographic features, and the management considerations are discussed.?METHODS�Case review of two patients with dural AVM (DAVM) who presented to referral neuro-ophthalmology and endovascular services because of clinical symptoms and signs consistent with a cavernous sinus dural AVM.?RESULTS�In each patient, superselective angiography revealed a small slow flow intraorbital shunt supplied by the ophthalmic artery. The transarterial and transvenous endovascular approaches to treat the malformation were partially successful. Although, the abnormal flow was reduced, complete closure of the DAVM could not be accomplished without significant risk of iatrogenic injury. Neither patient's vision improved after intervention.?CONCLUSION�A DAVM in the orbit can cause similar clinical symptoms and signs to those associated with a cavernous sinus DAVM. Even with high resolution magnetic resonance imaging, only superselective angiography can identify this small intraorbital slow flow shunt. The location in the orbital apex and the small size precludes a surgical option for treatment. The transarterial and transvenous embolisation options are limited.??
Huna-Baron, R.; Setton, A.; Kupersmith, M.; Berenstein, A.
Multiple Arteriovenous Malformations with Hemorrhage
Summary��\\u000a ?Background. A rare case of a left temporal arteriovenous malformation (AVM) with bleeding 10 days after removal of another hemorrhagic\\u000a AVM in the frontal lobe is reported.\\u000a \\u000a \\u000a \\u000a ?Method. A 47-year-old man had an attack of headache and vomiting and was admitted to our hospital. On admission, a CT scan showed\\u000a subcortical hemorrhage in the left frontal lobe. Left carotid
S. Utsuki; A. Kurata; Y. Miyasaka; M. Takano; H. Ootaka; K. Fujii
Pulmonary varix mimicking arteriovenous malformation.
We report here a case of a 44-year-old female with a pulmonary varix. The patient was asymptomatic; a routine chest X-ray incidentally revealed a serpiginous mass in the left hilar region. Computed tomography revealed a serpiginous, dilated vascular structure in the left upper lobe that continued into the lower lobe and was suggestive of an arteriovenous malformation. Pulmonary angiography revealed no arterial abnormality; however, the filling of an abnormally dilated pulmonary vein was observed. Angiography is considered to be the most useful method for the confirmatory diagnosis of pulmonary varices. PMID:18164399
Kumazoe, Hiroyuki; Komori, Masashi; Ochiai, Reiji; Egashira, Ryoko; Nakazono, Takahiko; Kudo, Sho
Management of Pulmonary Arteriovenous Malformations
Pulmonary arteriovenous malformations are rare lesions with significant clinical complications. These lesions are commonly seen in patients with hereditary hemorrhagic telangiectasia (formerly Osler-Weber-Rendu syndrome). Interventional radiologists are a key part of the treatment team in this complex disease, and a thorough understanding of the disease process is critical to providing good patient care. In this article, the authors review the disease course and its association with hereditary hemorrhagic telangiectasia, discusses the clinical evaluation and treatment of these complex patients, and outlines complications and follow-up.
Meek, Mary E.; Meek, James C.; Beheshti, Michael V.
Budd-Chiari Syndrome Complicating Hydatid Cyst of the Liver Managed by Venoplasty and Stenting
Budd-Chiari syndrome (BCS) and portal hypertension is an uncommon complication of hydatid cyst of the liver. Previous reports describe cyst excision or portosystemic shunt surgery for such patients. Here we present a case of hydatid cyst of the liver with BCS that was treated successfully with hepatic venoplasty and transjugular stent placement.
Sarawagi, Radha, E-mail: firstname.lastname@example.com; Keshava, Shyamkumar N., E-mail: firstname.lastname@example.com; Surendrababu, Narayanam R. S., E-mail: email@example.com [Christian Medical College, Department of Radiology (India); Zachariah, Uday G., E-mail: email@example.com; Eapen, Eapen C., E-mail: firstname.lastname@example.com [Christian Medical College, Department of Gastroenterology (India)
Stent Angioplasty of Closed Mesocaval Shunt in a Patient with Budd-Chiari Syndrome
Budd-Chiari syndrome (BCS) is an uncommon disorder caused by hepatic venous outflow obstruction. It is characterized by ascites, hepatomegaly and abdominal pain. Percutaneous intervention shave recently been used for the treatment of BCS. We present a case of BCS with a closed mesocaval shunt which was reopened with a self-expandable metallic stent.
Sancak, Tanzer; Karagulle, Ayse Tuba; Bilgic, Sadik; Sanlidilek, Umman [Ankara University, Medical Faculty, Radiology Department, Section of Vascular and Interventional Radiology, Ibn-i Sina Hospital, Hasircilar Street, Sihhiye, 06100 Ankara (Turkey); Yerdel, Mehmet Ali [Ankara University, Medical Faculty, General Surgery Department, Section of Vascular Surgery, Ibn-i Sina Hospital, HasircilarStreet, Sihhiye, 06100 Ankara (Turkey)
Determinants of survival and the effect of portosystemic shunting in patients with Budd-Chiari syndrome
Budd-Chiari syndrome (BCS) is a rare disorder that is characterized by hepatic venous outflow obstruction. The aim of this study was to assess determinants of survival and to evaluate the effect of portosystemic shunting. In this international multicenter study, 237 patients with BCS, diagnosed between 1984 and 2001, were investigated. Univariate, multivariate, and time-depen- dent Cox regression analyses were performed.
Sarwa Darwish Murad; Dominique-Charles Valla; Groen de P. C; Guy Zeitoun; Judith A. M. Hopmans; Elizabeth B. Haagsma; Bart van Hoek; Bettina E. Hansen; Frits R. Rosendaal; Harry L. A. Janssen
The Dramas of Criminal Law: Chapter [?] of The Symbols of Governance: Thurman Arnold and Post-Realist Legal Theory
This essay is a chapter of a book-in-progress on the legal and cultural theory of the legal realist Thurman Arnold, who was prominent as a Yale law professor from 1932 until he joined the Justice Department as head of its antitrust division in 1938. Arnold's work focused on the symbolic role of law in governance, both as a means by
Mark Fenster
Color information security system using Arnold transform and double structured phase encoding in gyrator transform domain
NASA Astrophysics Data System (ADS)
A new method for encoding color information based on Arnold transform and double structured phase encoding in gyrator transform domain is introduced. The phase function of Fresnel zone plate is used as structured phase mask. Prior to the encryption, the decomposed red, green, and blue components of the color image are independently permutated by Arnold transform, transmitted through structured phase mask, and then performed gyrator transform. The system parameters of Arnold transform, structured phase mask, and gyrator transform in each component image provide as encryption keys of the scheme. The proposed system avoids problems arising from misalignment. The optical implementation has also been proposed. Numerical simulations' results are presented to verify the security, validity, and possibility of the proposed approach.
Abuturab, Muhammad Rafiq
Congenital bronchopulmonary foregut malformations: concepts and controversies
This article addresses the scope, etiology, important associations and imaging features of congenital bronchopulmonary foregut malformations. Etiologic concepts, including airway obstruction and vascular anomalies, are highlighted. Technical imaging advances, especially CT and MR, have greatly enhanced our diagnostic abilities in evaluating these lesions; however, thorough and careful assessment of all aspects of the malformation is still necessary. Several specific lesions
Beverley Newman
A Framework for Detecting Malformed SMS Attack
Malformed messages in different protocols pose a serious threat because they are used to remotely launch malicious activity. Furthermore, they are capable of crashing servers and end points, sometimes with a single message. Recently, it was shown that a malformed SMS can crash a mobile phone or gain unfettered access to it. In spite of this, little research has been
M Zubair Rafique; Muhammad Khurram Khan; Khaled Alghathbar; Muddassar Farooq
Renal tract malformations: perspectives for nephrologists
Renal tract malformations are congenital anomalies of the kidneys and\\/or lower urinary tract. One challenging feature of these conditions is that they can present not only prenatally but also in childhood or adulthood. The most severe types of malformations, such as bilateral renal agenesis or dysplasia, although rare, lead to renal failure. With advances in dialysis and transplantation for young
Larissa Kerecuk; Michiel F Schreuder; Adrian S Woolf
Epidemiological and clinical features of Budd-Chiari syndrome in Japan.
The Japanese Ministry of Health and Welfare Research Committee on Aberrant Portal Blood Flow carried out an epidemiological survey and clinical study on Budd-Chiari syndrome in 1990. In the primary survey for determining the prevalence of the disease, a questionnaire was sent to all major hospitals throughout Japan and 160 cases seen in 1989 were compiled. More epidemiological details were obtained in 87 of these 160 cases. The number of patients with Budd-Chiari syndrome in this country was estimated to be about 300 (prevalence of 2.4/million) with about 20 new cases occurring every year. In the clinical study, 157 authentic cases of Budd-Chiari syndrome studied in 15 years (1975-89) were analyzed. There were 87 males (average age, 36.4 years) and 70 females (46.5 years), and the average period from the likely onset to the first medical consultation was 6.6 years, suggesting that these patients were mostly chronic cases. The main clinical features were hepatomegaly, leg edema, ascites and venous dilatation over the trunk. Abdominal pain was recorded in only four (2.5%). There were 16 (10.2%) with known identifiable etiologies. Of the patients 93% showed an obstructing lesion of various thickness in the hepatic portion of the inferior vena cava. Only nine (5.7%) had hepatic vein obstruction without caval lesions. Thus, the majority of Budd-Chiari syndrome patients in Japan are idiopathic, having an obstructing lesion in the inferior vena cava. The main causes of 33 deaths (21%) were liver failure, variceal bleeding and hepatocellular carcinoma. Hepatocellular carcinoma occurred in 10 (6.4%) in the 15-year period. However, the incidence of Budd-Chiari syndrome among all cases of hepatocellular carcinoma was less than 1% in the survey made by the Liver Cancer Study Group of Japan. PMID:7751574
Okuda, H; Yamagata, H; Obata, H; Iwata, H; Sasaki, R; Imai, F; Okudaira, M; Ohbu, M; Okuda, K
North American Reporting Center for Amphibian Malformations
NSDL National Science Digital Library
Created in June, 1997 and funded by the US Geological Survey and Environmental Protection Agency, this site is a response to the discovery of numerous deformed amphibians (mostly frogs) in areas as widespread as Minnesota, California, and Florida. Malformations include extra or missing limbs, missing eyes, and split limbs. The site is intended to serve as a central repository for data on the type and relative frequency of such malformations throughout the US. Researchers hope to use the site to help discover the cause(s) of these deformities. The site contains a map of where malformations have been reported, background on the occurrence and possible causes of defects, numerous images of malformed amphibians, a searchable bibliography, instructions on how to report the discovery of a malformed amphibian, and links to eight related web sites. NARCAM's site also contains a toll-free number for citizen reports.
Center., Northern P.
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
Here, we report the neuroimaging findings and neurological changes in 17 unpublished patients with Macrocephaly-Capillary Malformation (M-CM). This syndrome has been traditionally known as Macrocephaly-Cutis Marmorata Telangiectatica Congenita (M-CMTC), but we explain why M-CM is a more accurate term for this overgrowth syndrome. We analyzed the 17 patients with available brain MRI or CT scans and compared their findings with features identified by a comprehensive review of published cases. White matter irregularities with increased signal on T2-weighted images were commonly observed findings. A distinctive feature in more than half the patients was cerebellar tonsillar herniation associated with rapid brain growth and progressive crowding of the posterior fossa during infancy. In four such cases, we confirmed that the tonsillar herniation was an acquired event. Concurrently, with the development of these findings, ventriculomegaly (frequently obstructive) and dilated dural venous sinuses were observed in conjunction with prominent Virchow-Robin spaces in many of those in whom cerebellar tonsil herniation had developed. We postulate that this constellation of unusual features suggests a dynamic process of mechanical compromise in the posterior fossa, perhaps initiated by a rapidly growing cerebellum, which leads to congestion of the venous drainage with subsequently compromised cerebrospinal fluid reabsorption, all of which increases the posterior fossa pressure and leads to acquired tonsillar herniation. We make a distinction between congenital Chiari I malformation and acquired cerebellar tonsil herniation in this syndrome. We also observed numerous examples of abnormal cortical morphogenesis, including focal cortical dysplasia, polymicrogyria which primarily involved the perisylvian and insular regions, and cerebral and/or cerebellar asymmetric overgrowth. Other findings included a high frequency of cavum septum pellucidum or vergae, thickened corpus callosum, prominent optic nerve sheaths and a single case of venous sinus thrombosis. One patient was found to have a frontal perifalcine mass resembling a meningioma at age 5 years. This is the second apparent occurrence of this specific tumor in M-CM. PMID:18000912
Conway, Robert L; Pressman, Barry D; Dobyns, William B; Danielpour, Moise; Lee, John; Sanchez-Lara, Pedro A; Butler, Merlin G; Zackai, Elaine; Campbell, Lindsey; Saitta, Sulagna C; Clericuzio, Carol L; Milunsky, Jeff M; Hoyme, H Eugene; Shieh, Joseph; Moeschler, John B; Crandall, Barbara; Lauzon, Julie L; Viskochil, David H; Harding, Brian; Graham, John M
A gene map of congenital malformations.
Congenital malformations frequently arise sporadically, making it difficult to determine whether or not they are genetic in aetiology, let alone which gene(s) may be involved. Nevertheless, rapid progress has been made over recent years in the localisation and identification of gene mutations in specific malformations. This review draws from Mendelian inheritance in man (Johns Hopkins University Press, 11th ed, 1994) and the online version (OMIM) to catalogue 139 loci (including 65 specifically identified genes) implicated in congenital malformations. Some of the most interesting recent developments are discussed.
Wilkie, A O; Amberger, J S; McKusick, V A
Psychoanalysis and Neuroscience in Dialogue: Commentary on Paper by Arnold H. Modell
Arnold H. Modell has been engaged in an ongoing effort to advance psychoanalysis as well as to integrate psychoanalytic theory and relevant domains of science, particularly neuroscience, with psychoanalytic practice. He has been articulating a biology and construction of meaning and the role of metaphor as he attempts to understand the relationship between mind and brain. Modell strives to understanding
Brian Koehler
First record of Acanthodactylus opheodurus ARNOLD, 1980, and Coluber ventromaculatus GRAY, 1834
Acanthodactylus opheodurus ARNOLD, 1980 and Coluber ventromaculatus GRAY, 1834 are recorded for the first time from the Arab Emirate of Abudhabi. A. opheodurus was found at the foot of Jebel Hafit, south of Al Ain, which is approximately 500 km west of the nearest known record in Saudi Arabia. Furthermore, a snake from Sir Bani Yas Island turned out to
Arab Emirates; FRANZ TIEDEMANN
Working on the survey on Bifurcation Theory (AAIS) in 1985, Arnold insisted that the survey should attempt to predict the development of the theory during the next 25 years. The goal of this paper is to summarize some activity in the flrst half of this period related to the study of nonlocal planar bifurcations and to the extension of these
Boston's Arnold Arboretum: A Place for Study and Recreation. Teaching with Historic Places.
ERIC Educational Resources Information Center
This lesson is based on the National Register of Historic Places registration file for the Arnold Arboretum (Massachusetts) and other source material about the Arboretum and Frederick Law Olmstead. The lesson focuses on the first arboretum in the United States, which was part of Olmstead's plan for Boston's park system, known as the "Emerald�
Banks, Alan
Arnold's Advantages: How Governor Schwarzenegger Acquired English through De Facto Bilingual Education
ERIC Educational Resources Information Center
Governor Arnold Schwarzenegger has repeatedly mentioned that immigrants to the United States should do what he did to acquire English: Avoid using their first languages and speak, listen to, and read a vast amount of materials in English--a combination he referred to as "immersion." Yet, Schwarzenegger's real path to successful�
Ramos, Francisco; Krashen, Stephen
Internal Evaluation a Quarter-Century Later: A Conversation with Arnold J. Love
ERIC Educational Resources Information Center
This chapter features a recent conversation with Dr. Arnold J. Love, a long-time proponent of internal evaluation and one of the most cited internal evaluation authors. In 1983, Love edited the first issue of "New Directions for Program Evaluation" on the topic of internal evaluation. He is the author of the book "Internal Evaluation: Building�
Volkov, Boris B.
Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management.
Capillary malformation-arteriovenous malformation syndrome is an autosomal dominant disorder caused by mutations in the RASA1 gene and characterized by multiple small, round to oval capillary malformations with or without arteriovenous malformations. Ateriovenous malformations occur in up to one-third of patients and may involve the brain and spine. Although making the diagnosis is straightforward in some patients, there are other patients for whom diagnostic criteria may be helpful in their evaluation. Here we review the literature regarding capillary malformation-arteriovenous malformation syndrome, propose diagnostic criteria, and discuss the care of patients with this condition. PMID:23662773
Orme, Charisse M; Boyden, Lynn M; Choate, Keith A; Antaya, Richard J; King, Brett A
Pseudo-Budd-Chiari Syndrome: decompensated alcoholic liver disease mimicking hepatic venous outflow obstruction.
Three patients with rapid onset decompensated liver disease who were referred to our hospital with presumed Budd-Chiari syndrome are described. This diagnosis was based on marked hepatomegaly, caudate lobe hypertrophy and failure to visualize hepatic veins by Doppler-ultrasound examination. Detailed history, biochemistry, and histology were, however, highly suggestive of alcoholic liver cirrhosis with steatohepatitis-induced hepatomegaly. On angiographic examination narrowed but patent hepatic veins were demonstrated in 2 patients. A third patient died before further work-up could be performed; autopsy showed patent hepatic veins. These cases show that the radiological diagnosis of Budd-Chiari syndrome due to hepatic vein obstruction can be false positive and that suspected hepatic vein occlusion on Doppler-ultrasound should be confirmed by angiographic studies and on liver histology. PMID:12063996
Janssen, Harry L A; Tan, Adriaan C I T L; Tilanus, Hugo W; Metselaar, Herold J; Zondervan, Pieter E; Schalm, Solko W
Multiple supernumerary teeth associated with bony malformations.
Full blown cases of cleidocranial dysplasia (CCD) have been reported earlier but a case with a rarity of 60 teeth associated with bony malformations, is seldom observed Because of the oral findings this condition has been diagnosed at an early age, thus helping to achieve a better oral harmony. This article reports an atypical case with 16 supernumerary teeth associated with bony malformations. PMID:22524086
Kamatham, R; Sharada, J; Mohapatra, A; Nuvvula, S
Early presentation of an extremity arteriovenous malformation.
We report a very rare case of a high flow arteriovenous malformation (AVM) of the upper limb that caused high output cardiac failure at birth. There was early transfer of the baby to the care of a multidisciplinary team. After radiological intervention, the arm distal to the malformation became ischaemic and an urgent amputation through the upper-humerus followed. Methods of treatment are discussed, together with a review of results in the literature. PMID:15544778
Webb, Jill B; O'Brien, Mary; John, Philip R; Nishikawa, Hiroshi
Risk factors in internal urinary system malformations
Risk factors were studied in 370 children with internal urinary system (IUS) anomalies, coming from 105,374 consecutive births of known outcome. The incidence of IUS malformations was 3.51 per 1,000 births. Diagnosis was performed prenatally in 54.4% of patients. Two hundred and fifty-two patients had isolated IUS anomalies; 118 (31.8%) of the children had at least one non-urinary malformation. Fifty-five
C. Stoll; Y. Alembik; M. P. Roth; B. Dott; P. Sauvage
The Microcephaly-Capillary Malformation Syndrome
We report on three children from two families with a new pattern recognition malformation syndrome consisting of severe congenital microcephaly (MIC), intractable epilepsy including infantile spasms, and generalized capillary malformations that was first reported recently in this journal [Carter et al. (2011); Am J Med Genet A 155: 301�306]. Two of our reported patients are an affected brother and sister, suggesting this is an autosomal recessive severe congenital MIC syndrome.
Mirzaa, Ghayda M.; Paciorkowski, Alex R.; Smyser, Christopher D.; Willing, Marcia C.; Lind, Anne C.; Dobyns, William B.
Congenital pseudoarthrosis associated with venous malformation.
Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. PMID:16967289
Al-Hadidy, A; Haroun, A; Al-Ryalat, N; Hamamy, H; Al-Hadidi, S
Pineal Cavernous Malformations: Report of Two Cases
Pineal hemorrhage only occurs in rare cases, and this known to have several different causes such as germ cell tumors, pineal cysts and vascular malformations, including the cavernous malformations. Pineal cavernous malformations are extremely rare: to date only fifteen cases have been reported worldwide. Although the diagnosis of pineal cavernous malformation is not easy because of the extreme rareness of this condition, the presence of this lesion can be suspected based on its typical radiological findings. Case 1. A 42-year- old man presented with a limitation in his upward gazing. Radiologic examinations showed acute hemorrhage in the pineal region. He underwent ventriculo-peritoneal (VP) shunting but the patient's condition deteriorated after the shunting surgery. We operated and totally removed the tumor and the hemorrhages via an occipital-transtentorial approach. Case 2. A 37-year-old man presented with diplopia. Radiologic examinations showed acute hemorrhage in the third ventricle. He underwent VP shunting, and after this procedure the diplopia was aggravated. We operated and totally removed the tumor and the hemorrhages via an occipital-transtentorial approach. If there is no doubt about the pineal cavernous malformation on MR imaging, we strongly recommend early surgical intervention without performing a risky biopsy. In this study, we describe our experiences for the diagnosis of cavernous malformations in the pineal region with special emphasis on the radiological aspects and the clinical course of this disease.
Kim, Dong-Seok; Shim, Kyu-Won; Kim, Tae-Gon; Chang, Jong-Hee; Park, Yong-Gou
Pineal cavernous malformations: report of two cases.
Pineal hemorrhage only occurs in rare cases, and this known to have several different causes such as germ cell tumors, pineal cysts and vascular malformations, including the cavernous malformations. Pineal cavernous malformations are extremely rare: to date only fifteen cases have been reported worldwide. Although the diagnosis of pineal cavernous malformation is not easy because of the extreme rareness of this condition, the presence of this lesion can be suspected based on its typical radiological findings. Case 1. A 42-year- old man presented with a limitation in his upward gazing. Radiologic examinations showed acute hemorrhage in the pineal region. He underwent ventriculo-peritoneal (VP) shunting but the patient's condition deteriorated after the shunting surgery. We operated and totally removed the tumor and the hemorrhages via an occipital-transtentorial approach. Case 2. A 37-year-old man presented with diplopia. Radiologic examinations showed acute hemorrhage in the third ventricle. He underwent VP shunting, and after this procedure the diplopia was aggravated. We operated and totally removed the tumor and the hemorrhages via an occipital-transtentorial approach. If there is no doubt about the pineal cavernous malformation on MR imaging, we strongly recommend early surgical intervention without performing a risky biopsy. In this study, we describe our experiences for the diagnosis of cavernous malformations in the pineal region with special emphasis on the radiological aspects and the clinical course of this disease. PMID:16385664
Kim, Dong-Seok; Shim, Kyu-Won; Kim, Tae-Gon; Chang, Jong-Hee; Park, Yong-Gou; Choi, Joong-Uhn
Venous Malformation: update on etiopathogenesis, diagnosis & management
The aim of this review was to discuss the current knowledge on etiopathogenesis, diagnosis and therapeutic management of venous malformations. Venous malformations (VMs) are slow-flow vascular anomalies. They are simple, sporadic or familial (cutaneo-mucosal venous malformation or glomuvenous malformations), combined (e.g. capillaro-venous, capillaro-lymphaticovenous malformations) or syndromic (Klippel-Trenaunay, Blue Rubber Bleb Naevus and Maffucci). Genetic studies have identified causes of familial forms and of 40% of sporadic VMs. Another diagnostic advancement is the identification of elevated D-dimer level as the first biomarker of venous malformations within vascular anomalies. Those associated with pain are often responsive to Low Molecular Weight Heparin which should also be used to avoid disseminated intravascular coagulopathy secondary to intervention, especially if fibrinogen level is low. Finally, development of a modified sclerosing agent, ethylcellulose�ethanol, has improved therapy. It is efficient and safe, and widens indications for sclerotherapy to sensitive and dangerous areas such as hands, feet and periocular area.
Dompmartin, Anne; Vikkula, Miikka; Boon, Laurence M
Endovascular stenting of IVC using Brockenborough's needle in Budd-Chiari syndrome - A case report.
A young female presented with Budd-Chiari syndrome due to membranous obstruction of inferior vena cava. Membrane was quite thick with complete occlusion of the IVC. She had a previous unsuccessful attempt at endovascular stenting using conventional CTO wire technique. She was successfully treated with balloon angioplasty and stenting after perforation of the thick membrane with Brokenborough's needle. At three months follow-up she was asymptomatic with patent stent. PMID:24973846
Poddar, Pawan; Gurizala, Sudarsana; Rao, Sudarshan
[Inferior vena cava thrombosis responsible for chronic Budd-Chiari syndrome during hepatic and digestive amyloidosis].
The case of a 39 year old woman with amyloidosis of the liver and the digestive tract presenting with obstruction of the inferior vena cava is reported. Computed tomography after bolus injection of contrast material revealed a typical patchy fan-shaped image, of hepatic vein obstruction. The association of Budd-Chiari's syndrome with amyloidosis may be related to the increased risk of thrombosis observed in the latter disease. PMID:6653979
Paliard, P; Bretagnolle, M; Collet, P; Vannieuwenhyse, A; Berger, F
[Budd-Chiari syndrome associated with systemic aspergillosis. Case report and literature review.].
Budd-Chiari syndrome is a very rare disease related to hepatic vein obstruction. Vascular invasion by fungus is seldom seen and reported. After thorough research of the literature only three cases have been reported. We reported a case of a diabetic patient who showed an acute and aggressive disease, characterized by sepsis, acute hepatic failure and death. Postmortem examination showed disseminated aspergillosis, massive hepatic necrosis, hepatic vein thrombosis and venous occlusion by the fungus. PMID:20423771
Avenda�o-Reyes, J M; Mar�n, M E; Soria, S; Acosta, M
Managing Budd-Chiari syndrome: a retrospective review of percutaneous hepatic vein angioplasty and surgical shunting
BACKGROUND�The role of percutaneous hepatic vein angioplasty in the management of Budd-Chiari syndrome has not been well defined. Over a 10 year period at our unit, we have often used this technique in cases of short length hepatic vein stenosis or occlusion, reserving surgical mesocaval shunting for cases of diffuse hepatic vein occlusion or failed angioplasty. ?AIMS�To review the outcome of angioplasty and surgical shunting to define their respective roles. ?PATIENTS�All patients treated by angioplasty or surgical shunting for non-malignant hepatic vein obstruction over a ten year period from 1987 to 1996. ?METHODS�A case note review of pretreatment features and clinical outcome. ?RESULTS�Angioplasty was attempted in 21 patients with patent hepatic vein branches and was succesful in 18; in three patients treatment was unsuccessful and these patients had surgical shunts. Fifteen patients were treated by surgical shunting only. Mortality according to definitive treatment was 3/18 following angioplasty and 8/18 following surgery; in most cases this reflected high risk status prior to treatment. Venous or shunt reocclusion rates were similar for both groups and were associated with subtherapeutic warfarin in half of these cases. Most surviving patients in both groups are asymptomatic although one surgical patient has chronic hepatic encephalopathy. ?CONCLUSION�With appropriate case selection, many patients with Budd-Chiari syndrome caused by short length hepatic vein stenosis or occlusion may be managed successfully by angioplasty alone. Medium term outcome is good following this procedure provided that anticoagulation is maintained. Further follow up is required to assess for definitive benefits but we suggest that this should be included as a valid initial approach in the algorithm for management of Budd-Chiari syndrome. ?? Keywords: Budd-Chiari syndrome; short length hepatic vein stenosis; hepatic vein occlusion; percutaneous hepatic vein angioplasty; mesocaval shunt
Fisher, N; McCafferty, I; Dolapci, M; Wali, M; Buckels, J; Olliff, S; Elias, E
Acute Budd-Chiari syndrome secondary to leiomyosarcoma of the inferior vena cava
The authors report a case of leiomyosarcoma of the inferior vena cava, responsible for an acute Budd-Chiari syndrome. The\\u000a diagnosis, suggested by lower limb edema, ascites, and renal failure, was confirmed by sonography, CT scan, and pathological\\u000a examination. A mesoatrial shunt and right atrial thrombectomy were performed under extracorporeal circulation. The inferior\\u000a vena cava was ligated because the tumor was
Matthias Kracht; Jean-Pierre Becquemin; Marie-Christine Anglade; Didier Mathieu; Marie-Line Hillion; Jean-Louis Teboul
Budd-Chiari syndrome complicating the surgical closure of patent foramen ovale in right minithoracotomy
We present the case of a 45-year old female operated on for minimally invasive closure of patent foramen ovale, who suffered in the postoperative course of the Budd�Chiari syndrome caused by the thrombotic occlusion of the inferior vena cava. Medical treatment with oral anticoagulants and heparin was promptly established, avoiding a further increase of the thrombus that completely disappeared 3 months later.
Ceresa, Fabrizio; Sansone, Fabrizio; Anfuso, Carmelo; Patane, Francesco
[The diagnostic value of radionuclide inferior veno-cavagraphy in Budd-Chiari syndrome].
To evaluate the diagnostic value of radionuclide inferior veno-cavagraphy (RIVC) for Budd-Chiari Syndrome, RIVC using Tc99m was performed on 106 patients with massive ascites. A positive RIVC result was defined as having at least two of the three following criteria: (1) a delay of more than 4 seconds in visualizing the heart; (2) sharply truncated inferior vena cava with marked hang-up of isotope activity; and (3) extensive collateral circulation. Of the 106 patients, 18 were RIVC positive and were later confirmed by operation or contrast venography to have Budd-Chiari Syndrome with IVC obstruction. Of the remaining 88 RIVC negative patients, 3 were shown by operation, computerized tomography and cardiac echo, respectively, to be Budd-Chiari Syndrome with IVC obstruction. Thus, the diagnostic sensitivity and specificity of RIVC for this syndrome was 85.7% and 100% respectively. If RIVC is combined with hepatic scintigraphy, it will help to elucidate the anatomic and functional change of IVC, as well as, liver parenchymal disease, such as liver cirrhosis, hepatic tumor or hepatic vein obstruction. RIVC is a simple safe, accurate, noninvasive and reproducible procedure. This study confirms the high diagnostic specificity and sensitivity of RIVC. We therefore recommend RIVC as the first-line study for IVC patency. Contrast venography may be used as a confirmatory study in preparation for surgical intervention. PMID:2592948
Dong, J T; Huang, M J; Kao, P F
The biomechanical differences of rotational acetabular osteotomy, Chiari osteotomy and shelf procedure in developmental dysplasia of hip
Background Rotational acetabular osteotomy (RAO), Chiari osteotomy and shelf procedure are important treatments to delay the progression of osteoarthritis in developmental dysplasia of hip (DDH) patients, but their biomechanical differences are still unknown. This study was to evaluate the different biomechanical changes of hip joint after these three surgeries. Methods Sixteen DDH models of 8 human cadaver specimens were reconstructed, and treated by different surgeries, and then strain around femoral head was evaluated by strain gauges. Results Hip strain value of DDH model was decreased after treated by shelf procedure (Pleft?=?0.016 and Pright?=?0.021) and rotational acetabular osteotomy (P?=?0.004), but not in Chiari osteotomy (P?=?0.856). Moreover, the improved ratio of RAO treatment was better than shelf procedure (P?=?0.015) and Chiari osteotomy (P?=?0.0007), and the descendent range of shelf procedure was greater than Chiari osteotomy (P?=?0.018). Conclusions From biomechanics points, RAO was more effective in relieving hip joint stress compared with shelf procedure and Chiari osteotomy.
Familial Budd-Chiari syndrome due to membranous obstruction of the right hepatic vein treated with transluminal angioplasty.
We report on a 30-yr-old man with Budd-Chiari syndrome due to right hepatic vein membranous obstruction. The patient's older brother also suffered from Budd-Chiari syndrome, and died after emergent portocaval shunt operation. To the best of our knowledge, familial occurrence of this syndrome has not been described before. The patient reported herein was successfully treated with transluminal angioplasty, and 12 months after the procedure, there are no signs of portal hypertension. Transluminal angioplasty has been used rarely for dilatation of isolated hepatic vein obstruction. This procedure should be considered as the treatment of choice for Budd-Chiari syndrome due to hepatic vein membranous obstruction. PMID:2136973
Feigin, R D; Glickson, M; Varstending, A; Luria, B; Gordon, R L; Ring, E J; Tur-Kaspa, R
Debendox in early pregnancy and fetal malformation.
During the mid-1960s, 22 977 pregnant women in Scotland and England were followed up prospectively for the incidence of malformations in their infants evident at birth or within six weeks. During the first 13 weeks of gestation 620 of these women had been prescribed Debendox (dicyclomine-doxylamine-pyridoxine) and 743 other women agents other than Debendox containing pyridoxine. Of the 620 women given Debendox, 589 (95%) had a normal outcome of pregnancy, 8 (13%) delivered a malformed infant, and 23 (3.7%) had other outcomes. Of the 22 357 women who were given Debendox, 445 (2.0%) produced infants with malformation; and the rates for all abnormal outcomes among women given Debendox and those not given the drug were 5.0% and 5.4% respectively. These results support the hypothesis that Debendox is not teratogenic.
Fleming, D M; Knox, J D; Crombie, D L
Cerebral arteriovenous malformations in children.
In spite of their congenital origin, only 18-20% of cerebral AVMs are diagnosed during infancy and childhood. Intracranial haemorrhage is the presenting clinical manifestation in 75-80% of paediatric patients and is associated with a high morbidity and mortality. The natural history of untreated cerebral AVMs in children is worse than in adults, in relation to a longer life expectation, a higher annual risk of AVM bleeding (3.2% vs. 2.2%) and a higher incidence of posterior fossa and basal ganglia AVMs, most of which present with massive haemorrhages. The surgical excision remains the treatment of choice for parenchymal AVMs in children; AVM complete removal is currently achieved in 70-90% of the patients. With the advent of new agents for endovascular management, preoperative AVM embolization has further improved surgical results. Stereotactic radiosurgery appears to be a successful treatment option in small or moderate sized AVMs. Recent studies have demonstrated low complication rates with this technique in paediatric patients. We reviewed our experience with 37 paediatric AVMs treated at the Section of Paediatric Neurosurgery of the Catholic University of Rome between 1980 and 1997. Twenty-three patients underwent surgery as the only treatment modality; endovascular embolization was combined with the surgical treatment in a further four cases. Radiosurgery was utilized as the only treatment in three patients and in combination with other techniques in an other three children (with surgery in one case and with AVM embolization in the remaining two subjects). No treatment was carried out in three patients because of excessively critical condition on admission; endovascular embolization failed in a further patient because of the anatomical complexity of the malformation. Previous studies have demonstrated a quite strict correlation between AVM complexity based on Spetzler and Martin's grading system and patients outcome. A less direct relationship has been observed in the present study. In our experience the factors which were more closely predictive of patients' outcome were the occurrence of an AVM bleeding and the neurological status on admission. In spite of the low number of cases in the single subsets of patients this study seems to support the role of AVM embolization and radiosurgery as effective adjuvant techniques in the management of cerebral AVMs in children. PMID:10795888
Di Rocco, C; Tamburrini, G; Rollo, M
Percutaneous Cryotherapy of Vascular Malformation: Initial Experience
The present report describes a case of percutaneous cryotherapy in a 36-year-old woman with a large and painful pectoral venous malformation. Cryoablation was performed in a single session for this 9-cm mass with 24 h hospitalisation. At 2- and 6-month follow-up, the pain had completely disappeared, and magnetic resonance imaging demonstrated a significant decrease in size. Percutaneous cryoablation shows promise as a feasible and apparently safe method for local control in patients with symptomatic venous vascular malformations.
Cornelis, F., E-mail: email@example.com [Institut Bergonie, Department of Radiology (France); Neuville, A. [Institut Bergonie, Department of Pathology (France); Labreze, C. [Pellegrin Hospital, Department of Pediatric Dermatology (France); Kind, M. [Institut Bergonie, Department of Radiology (France); Bui, B. [Institut Bergonie, Department of Oncology (France); Midy, D. [Pellegrin Hospital, Department of Vascular Surgery (France); Palussiere, J. [Institut Bergonie, Department of Radiology (France); Grenier, N. [Pellegrin Hospital, Department of Radiology (France)
Gastrointestinal perforations in neonates with anorectal malformations.
We describe the presentation and management of gastrointestinal perforation in four neonates with anorectal malformations. Two neonates with high malformation had pneumoperitoneum on X-ray; surgery revealed sigmoid perforation in one patient and transverse colon perforation in the other. Colostomy was done, followed by posterior sagittal anorectoplasty at four months; both recovered satisfactorily. The third neonate had no radiological feature of gut perforation but cecal perforation was found at surgery; the neonate recovered following right hemicolectomy with stoma followed by anorectoplasty at five months. The fourth neonate presented with clinical and radiological features of perforation and recovered satisfactorily after anoplasty and colostomy. PMID:15250569
Sharma, Shyam B; Gupta, Vipul; Sharma, Vinod
Genetics Home Reference: Microcephaly-capillary malformation syndrome
... help with understanding microcephaly-capillary malformation syndrome? angiogenesis ; apoptosis ; autophagy ; autosomal ; autosomal recessive ; capillaries ; cell ; degrade ; developmental delay ; ...
Anaesthetic management of a child with massive extracranial arteriovenous malformation
Vascular tumors affect the head and neck commonly but arteriovenous malformations are rare. Vascular malformations are often present at birth and grow with the patient, usually only becoming significant later in childhood. Embolization has been the mainstay of treatment in massive and complex arteriovenous malformations. We present a case of massive extracranial arteriovenous malformation in a 7-year-old boy causing significant workload on right heart and respiratory distress. The management of angioembolization under general anaesthesia and anaesthetic concerns are presented.
Shamim, Faisal; Ullah, Hameed; Rehman, Azhar
Genetics Home Reference: Multiple cutaneous and mucosal venous malformations
... help with understanding VMCM? angiogenesis ; autosomal ; autosomal dominant ; calcium ; cell ; cutaneous ; deficiency ; endothelial cells ; gene ; inflammation ; inherited ; kinase ; lesion ; malformation ; ...
Associated malformations in patients with limb reduction deficiencies
Infants with limb reduction deficiencies (LRD) often have other associated congenital malformations. The purpose of this investigation was to assess the prevalence and the types of associated malformations in a defined population. This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for malformations was continued until 1 year
Claude Stoll; Yves Alembik; Beatrice Dott; Marie-Paule Roth
Congenital malformations by the parental occupation in finland
The Finnish Register of Congenital Malformations, a case-referent register, was used to analyze the associations between the parental occupation and the children born with malformations. The women working in industrial and construction occupations had more children with central nervous system (CNS) and musculoskeletal malformations than the referent mothers. The women employed in transport and communication occupations had more children with
K. Hemminki; P. Mutanen; K. Luoma; I. Saloniemi
Spinal epidural angiomatous malformations draining into intrathecal veins
Nine angiomatous malformations situated on the outer surface of the dura and one situated in the pelvis, from which draining veins pierced the dura and joined the coronal venous plexus are described. The clinical manifestations and myelographic appearances are similar to those of the majority of intradural angiomatous malformations. This suggests that neurological deficiencies with both types of malformation are
B. E. Kendall; V. Logue
A case of Budd-Chiari syndrome associated with alveolar echinococcosis.
Alveolar echinococcosis of the liver is caused by the tapeworm Echinococcus multilocularis. Budd-Chiari Syndrome (BCS) is a hepatic venous outflow tract obstruction and involves abdominal pain, hepatomegaly and high-gradient ascites. A low-gradient ascites in connection with the syndrome rarely occurs in case of alveolar echinococcosis of the liver. Here we report a 20-year-old man with the syndrome and low-gradient ascites due to a huge liver mass. Further diagnostic examination revealed alveolar echinococcosis of the liver. Diuretic agents and albendazole were used as palliative therapy in the case. PMID:24864647
Karadas, Sevdegul; Cumhur, Dulger Ahmet; Bilge, Gultepe; Mehmet, Beyazal; Mustafa, Kosem
Hepatic heterogeneity on CT in Budd-Chiari syndrome: correlation with regional disturbances in portal flow.
A comparative study of the imaging findings of computed tomography (CT), selective arteriography, CT arteriography, and/or CT portography is presented in 4 patients with Budd-Chiari syndrome. Hepatic differences in attenuation and morphologic changes were generally found to be closely related with regional disturbances in portal flow. Areas with complete hepatic vein obstruction were hypodense on pre- and postcontrast scans, probably due to portal flow inversion. In 2 of 4 cases, these were subsequently atrophied, while areas receiving the remaining venous outflow appeared hypertrophied. They were markedly enhanced on postcontrast scans. Enhancement may be patchy due to portal and sinusoidal stasis. PMID:3350270
Van Beers, B; Pringot, J; Trigaux, J P; Dautrebande, J; Mathurin, P
Genetics of craniofacial development and malformation
The head is anatomically the most sophisticated part of the body and its evolution was fundamental to the origin of vertebrates; understanding its development is a formidable problem in biology. A synthesis of embryology, evolution and mouse genetics is shaping our understanding of head development and in this review we discuss its application to studies of human craniofacial malformations. Many
Andrew O. M. Wilkie; Gillian M. Morriss-Kay
Dural arteriovenous malformations associated with cerebral aneurysms
Only limited information is available concerning dural arteriovenous malformations (AVMs) found in association with cerebral aneurysms. The present report focuses on six such cases, concentrating attention on clinical characteristics and significance. Of a total of 46 dural AVMs encountered over a given period, six (13%) were linked with cerebral aneurysms. Particularly strong associations were noted for dural AVMs in the
Sachio Suzuki; Ryusui Tanaka; Yoshio Miyasaka; Akira Kurata; Makoto Takano; Kiyotaka Fujii; Hiroshi Takagi
Cerebral arteriovenous malformation diagnosis and management.
Arteriovenous malformations of the brain can carry considerable morbidity and mortality in the setting of rupture. The complex angioarchitecture and hemodynamic alteration requires careful consideration in diagnostic and management approaches. In this review, the authors define the pathophysiology, outline diagnostic methods, and highlight current management approaches. PMID:24504610
Asif, Kaiz; Leschke, John; Lazzaro, Marc A
Familial Dandy-Walker malformation and leukodystrophy
We report the first familial cases with two different types of posterior fossa cystic malformation and a leukodystrophic-like aspect on cerebral magnetic resonance imaging (MRI). The girl and her brother had severe encephalopathy, marked hypotonia, absent deep tendon reflexes, macrocrania, gigantism, and dysmorphic face and extremities. The girl had generalized seizures. The boy had unilateral cataract and bilateral optic atrophy.
V�ronique T. Humbertclaude; Philippe A. Coubes; Nicolas Leboucq; Bernard B. Echenne
The management of asymptomatic congenital lung malformations
Congenital Pulmonary Airway Malformation (CPAM) and lung sequestration are often discovered on routine prenatal sonography. While some lesions may be large and cause serious complications in the fetus or newborn, many will be asymptomatic at birth. Some authors advocate simple observation because of the lack of data on the incidence of long-term complications. However, there are very few described cases
Jean-Martin Laberge; Ioana Bratu; H�l�ne Flageole
Dural Sinus Malformation with Dural Arteriovenous Fistula
Summary A rare case of dural sinus malformation with dural arteriovenous fistula in an infant is presented. Presenting symptom was progressive macrocrania without hydrocephalus. A high flow arteriovenous of the sigmoid sinus associated with jugular bulb diaphragm was demonstrated. Reflux in the intracranial sinus was present. The shunt was successfully occluded by transarterial embolization. The natural history and treatment strategy are discussed.
Yau, C.Kwong; Alvarez, H.; Lasjaunias, P.
Dural Sinus Malformation with Dural Arteriovenous Fistula
Summary A rare case of dural sinus malformation with dural arteriovenous fistula in an infant is presented. Presenting symptom was progressive macrocrania without hydrocephalus. A high flow AVS of the sigmoid sinus associated with jugular bulb diaphragm was demonstrated. Reflux in the intracranial sinus was present. The shunt was successfully occluded by transarterial embolization. The natural history and treatment strategy are discussed.
Yau, C.K.; Alvarez, H.; Lasjaunias, P.
JAK2V617F and prothrombin G20210A gene mutations in a patient with Budd-Chiari syndrome and essential thrombocythemia.
Myeloproliferative disorders and the inherited thrombophilias have been described as the main causes underlying the Budd-Chiari syndrome. Moreover, the presence of the JAK2V617F was associated with a higher frequency of Budd-Chiari syndrome in patients who have overt or even latent myeloproliferative disorder. We herein describe a 28-year-old woman who was diagnosed with Budd-Chiari syndrome and later developed an overt myeloproliferative disorder. The patient was found to carry both the JAK2V617F and the prothrombin G20210A mutation in the heterozygous form. The significance of the chronology of diagnosis is highlighted. PMID:19223280
Musallam, Khaled M; Aoun, Elie G; Mahfouz, Rami A; Khalife, Mohamad; Taher, Ali T
Ground-Water Hydrology and Water-Quality Data for Wells, Springs, and Surface-Water Sites in the Bradley-Brumalow Creek Area Near Arnold Air Force Base, Tennessee, September to December 1999.
National Technical Information Service (NTIS)
Arnold Air Force Base (AAFB) occupies about 40,000 acres in Coffee and Franklin Counties, Tennessee. The primary mission of AAFB is to support the development of aerospace systems. This mission is accomplished through test facilities at Arnold Engineering...
R. A. Aycock C. J. Haugh
Stepwise Angioplasty and Catheter Directed Thrombolysis for Budd-Chiari Syndrome Complicated with Floating Thrombus in Inferior Vena Cava
Recently, we experienced a rare case of Budd-Chiari Syndrome. The case was a 57-year-old female patient. Venous return had been severely disturbed by the membranous occlusion of the IVC and a giant floating thrombus. After catheter directed thrombolysis combined with stepwise percutaneous angioplasty, the IVC was recanalized sufficiently and the thrombus was completely resolved.
Stepwise angioplasty and catheter directed thrombolysis for budd-Chiari syndrome complicated with floating thrombus in inferior vena cava.
Recently, we experienced a rare case of Budd-Chiari Syndrome. The case was a 57-year-old female patient. Venous return had been severely disturbed by the membranous occlusion of the IVC and a giant floating thrombus. After catheter directed thrombolysis combined with stepwise percutaneous angioplasty, the IVC was recanalized sufficiently and the thrombus was completely resolved. PMID:24995066
Mitsuoka, Hiroshi; Saito, Takaaki; Higashi, Shigeki
Entrapment of a Guide Wire by the Chiari Network in a Patient with Ablated Idiopathic Ventricular Tachycardia
Using a guide wire before insertion of a sheath is a common procedure with infrequent complications. We report an unusual case of a guide wire having been entrapped by the Chiari network prior to an intended radiofrequency ablation procedure, and which could be observed using intracardiac echocardiography. Using transthoracic echocardiography prior to ablation, this patient had been shown to have
Eimei Shimoike; Norihiro Ueda; Toru Maruyama; Yoshikazu Kaji; Yoshiyuki Niho
Percutaneous balloon angioplasty of inferior vena cava in Budd-Chiari syndrome-R1.
This study was to evaluate the clinical effects of percutaneous balloon angioplasty of Budd-Chiari syndrome (BCS) caused by inferior vena cava (IVC) obstruction. Between 1993 and 1999, 28 men and 14 women with mean age of 44+/-12 years underwent percutaneous balloon angioplasty for primary BCS. Color Doppler ultrasound and venography showed membranous and segmental obstruction of IVC in 29 and 13 patients, respectively. Fourteen patients also had left- and/or mid-hepatic vein obstruction. Angioplasty of IVC was successful in 41 patients (97.6%), resulting in a reduction of pressure gradient between IVC and the right atrium from 15.0+/-2.5 to 5.5+/-0.8 mmHg (P<0.01). A stent was placed in the site of obstruction in the patient with unsuccessful balloon angioplasty. Patients with successful angioplasty or stent placement had significant improvement in clinical symptoms indicated by a reduction in hepatomegaly and the degree of ascites. No specific attempt was made to treat the occluded left- and/or mid-hepatic vein due to the presence of potent right hepatic vein. Over the follow-up period of 32+/-12 months, restenosis of IVC occurred in only one patient (2.4%), which was redilated successfully. Percutaneous balloon angioplasty is a safe and effective therapy for Budd-Chiari syndrome caused by IVC obstruction, therefore should be the first choice of treatment for this condition. PMID:12007692
Wu, Tongguo; Wang, Lexin; Xiao, Qiang; Wang, Bosong; Li, Shanying; Li, Xiurong; Zhang, Jinying
[Oral contraceptives and blood diseases are the most common causes of Budd-Chiari syndrome].
Two cases of young patients with the chronic form of Budd-Chiari syndrome are reported. The first concerns a 22-year-old woman with a 6-month history of hepatomegaly, who had used oral contraceptives almost continuously during the five years preceding diagnosis. In a thorough diagnostic work-up, thromboses were detected in all but one of the hepatic veins, and a possible non-occluding thrombosis in the retrohepatic portion of the inferior vena cava. In the blood and bone marrow, findings were compatible with polycythaemia rubra vera, and a high anti-cardiolipin antibody titre was found. The second case concerns a 25-year-old male smoker with normal bone marrow, who had thromboses in at least two of the hepatic veins, though the inferior vena cava was not occluded. In both cases a mesocaval shunt was interposed with synthetic grafts, and postoperatively the patients are doing well--at sixteen and five months, respectively. Both are maintained on anticoagulants, and even without diuretics there has been no recurrence of ascites. The woman takes a small dose of hydroxy-urea to control her hypercoagulability. To our knowledge, hers is the first case to be reported of Budd-Chiari syndrome with hypercoagulability due to the concomitant presence of oral contraceptives, polycythaemia rubra vera and anti-phospholipid antibodies. PMID:2511387
Almer, S; Bodemar, G; Ryd�n, B O; Elfstr�m, J; Franz�n, L; Ihse, I; Resj�, M
Arnol'd diffusion in a system with 2.5 degrees of freedom: Classical and quantum mechanical approaches
Arnol'd diffusion, a universal phenomenon in nonlinear dynamics, is analyzed for a model system with 2.5 degrees of freedom. Only the three primary order resonances are taken into account, and the results obtained by using classical and quantum mechanical approaches are compared. It is shown that the parameter dependence of the rate of quantum Arnol'd diffusion is similar to the classical one, but the quantum diffusion coefficient is smaller by approximately an order of magnitude. It is found that the existence of a threshold with respect to perturbation parameters, pointed out earlier, is not an indispensable feature of quantum Arnol'd diffusion. It is shown that a quantum system with weakly overlapping resonances can exhibit mixed dynamics that has no classical counterpart (diffusion along a resonance superimposed by oscillations across the overlapped resonances).
Malyshev, A. I., E-mail: firstname.lastname@example.com; Chizhova, L. A. [Nizhni Novgorod State University (Russian Federation)
Non-integrability of the fourth Painlev� equation in the Liouville�Arnold sense
NASA Astrophysics Data System (ADS)
In this paper we are concerned with the integrability of the fourth Painlev� equation (PIV) from the point of view of the Hamiltonian dynamics. We prove that the fourth Painlev� equation with parameters a = m, b = ?2(1 + 2n + m) where m, n \\in { Z} , is not integrable in the Liouville�Arnold sense by means of meromorphic first integrals. We explicitly compute formal and analytic invariants of the second variational equations which generate topologically the differential Galois group. In this way our calculations and the Ziglin�Ramis�Morales-Ruiz�Sim� method yield the non-integrability results.
Stoyanova, Tsvetana
Benatti-Narnhofer-Sewell quantum Arnol'd cat map: Physical interpretation
NASA Astrophysics Data System (ADS)
A Tomita (standard) Hilbert space representation of a physical system with a toral phase space is presented, both for the classical and for the quantal case. The dynamics of such a system, subject to a regular series of linear kicks, is derived in a discrete-time form, and is shown to be identical to the Benatti-Narnhofer-Sewell quantum Arnol'd cat map in the quantum case. It is shown that this quantum system is chaotic in the sense of having exponentially decaying autocorrelation functions.
Grelland, Hans H.
Mayer-Rokitansky syndrome and anorectal malformation
Mayer Rokitansky Kuster Houser syndrome (MRKH syndrome) is characterized by Mullerian duct structures agenesis, vaginal atresia\\u000a being the commonest variant. It can be associated with renal, skeletal, spine and other malformations. Patient with Mayer\\u000a Rokitansky syndrome has a varied presentation from newborn period to adolescence. Thorough investigations are required for\\u000a classification of the syndrome and diagnosis of associated anomalies. The
Shreeprasad P. Patankar; Vijay Kalrao I; Shilpa S. Patankar
[Localized cystic lymphatic malformation (or cutaneous lymphangiomas)].
Cutaneous cystic lymphatic malformations consist of dilatations of various sizes, developed from the lymphatic system. Various clinical presentations exist, which are more or less complex and severe. MRI is the best examination to determine the extent of deep lesions. Therapeutic decisions usually follow multidisciplinary consultations. In localized superficial forms, whether surgical excision or abstention is required. In macrocystic forms, sclerotherapy is the first-line treatment. PMID:21074349
Lorette, G�rard; Vaillant, Lo�c; Wiersbicka, Ewa; Herbreteau, Denis
Embolization and radiosurgery for arteriovenous malformations
The treatment of arteriovenous malformations (AVMs) requires a multidisciplinary management including microsurgery, endovascular embolization, and stereotactic radiosurgery (SRS). This article reviews the recent advancements in the multimodality treatment of patients with AVMs using endovascular neurosurgery and SRS. We describe the natural history of AVMs and the role of endovascular and radiosurgical treatment as well as their interplay in the management of these complex vascular lesions. Also, we present some representative cases treated at our institution.
Plasencia, Andres R.; Santillan, Alejandro
Malformations of cortical development and epilepsy
Malformations of cortical development (MCDs) are macroscopic or microscopic abnormalities of the cerebral cortex that arise as a consequence of an interruption to the normal steps of formation of the cortical plate. The human cortex develops its basic structure during the first two trimesters of pregnancy as a series of overlapping steps, beginning with proliferation and differentiation of neurons, which then migrate before finally organizing themselves in the developing cortex. Abnormalities at any of these stages, be they environmental or genetic in origin, may cause disruption of neuronal circuitry and predispose to a variety of clinical consequences, the most common of which is epileptic seizures, A large number of MCDs have now been described, each with characteristic pathological, clinical, and imaging features. The causes of many of these MCDs have been determined through the study of affected individuals, with many MCDs now established as being secondary to mutations in cortical development genes. This review will highlight the best-known of the human cortical malformations associated with epilepsy. The pathological, clinical, imaging, and etioiogic features of each MCD will be summarized, with representative magnetic resonance imaging (MRI) images shown for each MCD, The malformations tuberous sclerosis, focal cortical dysplasia, hemimegalencephaiy, classical iissencephaly, subcortical band heterotopia, periventricular nodular heterotopia, polymicrogyria, and schizencephaly will be presented.
Leventer, Richard J.; Guerrini, Renzo; Dobyns, William B.
Complex malformation of the inferior vena cava.
Malformations of the inferior vena cava (IVC) are rare presentations, exceptional in children, and are usually asymptomatic.They are caused by disturbances in the embryological formation of the venous system or can develop as a result of perinatal venous thrombosis with secondary impairment of the venous development. We report the case of a 14 year old boy,admitted for pediatric evaluation before undergoing plastic surgery in order to remove superficial varicose veins of the lower abdomen. The patient presents with inequality in circumference and length of the legs. Laboratory investigations are normal and the abdominal ultrasound describes hypoplasia of the retrohepatic segment of the inferior vena cava. The diagnosis of complex malformation of the abdominal deep venous system (retrohepatic vena cava atresia, cavo-caval anastomosis through azygos veins, abnormal formation of the inferior vena cava with the absence of the left iliac vein) was established through a CT angiography. The presence of abdominal varicose dilations should indicate the necessity to closely look for malformations of the portal and/or caval venous systems. PMID:24742422
Lesanu, G; Balanescu, R; Pacurar, D; Iaru, O; Vlad, R M; Topor, L; Oraseanu, D
Congenital lung malformations: an ongoing controversy
Introduction Congenital lung malformations are rare lesions that are most commonly diagnosed antenatally. Management of such lesions, particularly those that are asymptomatic, remains controversial. We undertook a survey to ascertain current practice of surgeons in the UK and Ireland. Methods All consultant members of the British Association of Paediatric Surgeons were asked to complete a survey on congenital lung malformations with respect to antenatal management, symptomatic and asymptomatic lesions, and operative techniques. Results Responses were received from 20 paediatric surgical centres and highlighted the ongoing variability in management of such lesions, particularly those that are asymptomatic. Twenty per cent of surgeons never resect an asymptomatic lesion and twenty-four per cent always do. The remainder intervene selectively, with size being the most commonly stated indication. Most resections are undertaken via thoracotomy although 35% of surgeons use thoracoscopy for some procedures. Conclusions National data based on congenital anomaly registers are needed to determine the natural history of these malformations and to guide future management.
Burge, DM; Marven, SS
Neuroembryology and brain malformations: an overview.
Modern neuroembryology integrates descriptive morphogenesis with more recent insight into molecular genetic programing and data enabled by cell-specific tissue markers that further define histogenesis. Maturation of individual neurons involves the development of energy pumps to maintain membrane excitability, ion channels, and membrane receptors. Most malformations of the nervous system are best understood in the context of aberrations of normal developmental processes that result in abnormal structure and function. Early malformations usually are disorders of genetic expression along gradients of the three axes of the neural tube, defective segmentation, or mixed lineages of individual cells. Later disorders mainly involve cellular migrations, axonal pathfinding, synaptogenesis, and myelination. Advances in neuroimaging now enable the diagnosis of many malformations in utero, at birth, or in early infancy in the living patient by abnormal macroscopic form of the brain. These images are complimented by modern neuropathological methods that disclose microscopic, immunocytochemical, and subcellular details beyond the resolution of MRI. Correlations may be made of both normal and abnormal ontogenesis with clinical neurological and EEG maturation in the preterm or term neonate for a better understanding of perinatal neurological disease. Precision in terminology is a key to scientific communication. PMID:23622157
Sarnat, Harvey B; Flores-Sarnat, Laura
Complex combined vascular malformations and vascular malformation syndromes affecting the extremities in children.
Complex combined vascular malformations affecting extremities are an interesting group of vascular malformations because, in addition to the vascular channel anomalies present, they can be associated with other tissue changes and sometimes altered limb growth. At present, magnetic resonance imaging is the gold standard imaging tool to evaluate such complex conditions in children because of its inherent tissue specificity and vascular capabilities that enables characterization of tissues and the vascular channel anomalies both for diagnosis and management of the patient. A brief review of some of these conditions is presented, including Klippel-Tr�naunay syndrome, Parkes Weber syndrome, extensive diffuse low-flow venous malformations, Bannayan-Riley-Ruvalcaba syndrome, cutis marmorata telangiectatica congenita, Maffucci's syndrome, and Gorham-Stout disease. PMID:19724993
Lobo-Mueller, Edrise; Amaral, Joao G; Babyn, Paul S; Wang, Qiuyan; John, Philip
Cytoarchitecture and Transcriptional Profiles of Neocortical Malformations in Inbred Mice
Malformations of neocortical development are associated with cognitive dysfunction and increased susceptibility to epileptogenesis. Rodent models are widely used to study neocortical malformations and have revealed important genetic and environmental mechanisms that contribute to neocortical development. Interestingly, several inbred mice strains commonly used in behavioral, anatomical, and/or physiological studies display neocortical malformations. In the present report we examine the cytoarchitecture and myeloarchitecture of the neocortex of 11 inbred mouse strains and identified malformations of cortical development, including molecular layer heterotopia, in all but one strain. We used in silico methods to confirm our observations and determined the transcriptional profiles of cells found within heterotopia. These data indicate cellular and transcriptional diversity present in cells in malformations. Furthermore, the presence of dysplasia in nearly every inbred strain examined suggests that malformations of neocortical development are a common feature in the neocortex of inbred mice.
Ramos, Raddy L.; Smith, Phoebe T.; DeCola, Christopher; Tam, Danny; Corzo, Oscar
Malformations in neotropical viperids: qualitative and quantitative analysis.
Malformations can occur in all living species, but there is little information about anomalies that occur in snakes and their frequency. This study assessed malformations in newborn South American pit vipers (Bothrops jararaca) and South American rattlesnakes (Crotalus durissus) from wild captured pregnant females (240 and 35 litters, respectively). Newborn snakes were measured, weighed, sexed and studied grossly and by radiography for the presence of malformations. Ninety-five malformed pit vipers were identified from 4,087 births (2.3%), while 36 malformed rattlesnakes were found from 324 births (11.1%). Spinal abnormalities were the most common in both species, followed by fusion of ventral scales. Pit vipers showed a greater range of malformations including schistosomia (22.1%), kinked tail (13.7%), bicephaly (3.1%) and hydrocephaly (2.1%). PMID:23885804
Sant'Anna, S S; Grego, K F; Lorigados, C A B; Fonseca-Pinto, A C B C; Fernandes, W; S�-Rocha, L C; Cat�o-Dias, J L
A Cluster of Hypoplastic Left Heart Malformation in Baltimore, Maryland
Congenital cardiovascular malformations (CCVMs) of the left side of the heart show familial recurrence of various forms of\\u000a obstructive malformations, including hypoplastic left heart (HLH), interrupted aortic arch, coarctation of the aorta, and\\u000a aortic stenosis. In a previous population-based study in the Baltimore�Washington region, these malformations were associated\\u000a with parental reports of occupational or leisure solvent exposure, overt diabetes, and
K. S. Kuehl; C. A. Loffredo
Retained Microcatheter after Onyx Embolization of Intracranial Arteriovenous Malformation
Endovascular embolization is being increasingly used to treat intracranial arteriovenous malformations (AVMs). However, we experienced two patients with retained microcatheters after AVM embolization using Onyx.
Lee, Jae Il; Ko, Jun Kyeung; Lee, Tae Hong
Malformations among the X-linked intellectual disability syndromes.
Malformations are significant contributions to childhood mortality and disability. Their co-occurrence with intellectual disability may compound the health burden, requiring additional evaluation and management measures. Overall, malformations of greater or lesser severity occur in at least some cases of almost half of the 153 XLID syndromes. Genitourinary abnormalities are most common, but tend to contribute little or no health burden and occur in only a minority of cases of a given XLID syndrome. Some malformations (e.g., lissencephaly, hydranencephaly, long bone deficiency, renal agenesis/dysplasia) are not amenable to medical or surgical intervention; others (e.g., hydrocephaly, facial clefting, cardiac malformations, hypospadias) may be substantially corrected. PMID:24166814
Stevenson, Roger E; Schwartz, Charles E; Rogers, R Curtis
Retained microcatheter after onyx embolization of intracranial arteriovenous malformation.
Endovascular embolization is being increasingly used to treat intracranial arteriovenous malformations (AVMs). However, we experienced two patients with retained microcatheters after AVM embolization using Onyx. PMID:22949969
Lee, Jae Il; Choi, Chang Hwa; Ko, Jun Kyeung; Lee, Tae Hong
Associated malformations among infants with neural tube defects.
Infants with neural tube defects (NTDs) often have associated congenital anomalies. The reported frequency and types of associated malformations vary between different studies. The purpose of this investigation was to assess the frequency and types of associated malformations among infants with NTDs in a geographically well-defined population from 1979 to 2008 of 402,532 consecutive births. Of the 441 infants with NTDs born during this period, 20.4% had associated malformations. Infants with associated malformations were divided into those with recognizable conditions [11 (2.5%) infants with chromosomal and 23 (5.2%) with non-chromosomal conditions], and those without recognizable conditions [56 (12.7%) infants with multiple malformations]. Associated malformations were more frequent among infants with encephalocele (36.8%) than those with anencephaly (11.5%) or spina bifida (23.8%). Oral clefts and malformations in the musculoskeletal, renal and cardiovascular systems were the most commonly observed associated anomalies. The frequency of associated malformations in infants with NTDs emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations, especially facial clefts and musculoskeletal, renal and cardiac anomalies, may need to be considered in infants with NTDs, and referral of these infants for genetics evaluation and counseling seems warranted. PMID:21337695
Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule
Associated malformations among infants with radial ray deficiency.
Infants with radial ray deficiencies very often have other associated congenital anomalies. The reported frequency and types of associated malformations vary between different studies. The purpose of this investigation was to assess the frequency and types of associated malformations among infants with radial ray deficiencies in a geographically well-defined population from 1979 to 2004 of 346,831 consecutive births. Of the 73 infants with radial ray deficiencies born during this period (prevalence at birth of 2.1 per 10,000), 75% had associated malformations. Infants with associated malformation were divided into recognizable conditions (16 (22%) infants with chromosomal and 20 (27%) with non chromosomal conditions), and non recognizable conditions (19 (26%) infants with multiple malformations). Trisomies 18 and autosomal deletions were the most frequent chromosomal abnormalities. VACTERL association, thrombocytopenia absent radii syndrome, Fanconi anemia and Holt-Oram syndrome were most often present in recognizable non chromosomal conditions. Malformations in the musculoskeletal, cardiovascular and urogenital systems were the most common other anomalies in infants with multiple malformations and non recognizable conditions. The frequency of associated malformations in infants with radial ray deficiencies emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations especially musculoskeletal, cardiac and urogenital systems anomalies may need to be considered in infants with radial ray deficiencies, and referral of these infants for genetic evaluation and counseling seems warranted. PMID:24032294
Stoll, C; Dott, B; Alembik, Y; Roth, M-P
Confessions of a Would-Be Non-Provincial--Or, the English Teacher and Matthew Arnold's Ghost.
ERIC Educational Resources Information Center
Although Matthew Arnold may appear to be the representative of an increasingly irrelevant elitist vision by advocating a culture ultimately dependent on the exclusion of all but the very best in thought and expression, in fact he remains the writer who reminds us of the necessity for a social vision of ourselves superior to any mere provincialism.�
Walling, W.
Ground shock profiles for an accidental explosion at the proposed Large Rocket Test Facility at Arnold Engineering Development Center
An assessment is made of the ground shock in profile which may be generated in the event of an accidental explosion at the proposed Large Rocket Test Facility (LRTF) at Arnold Engineering Development Center (AEDC). The assessment is accomplished by using previous results and by reviewing existing ground motion data at depth, for sites with similar geology to expected conditions
B. C. Davis
A canine model for IVC occlusive form of Budd-Chiari syndrome using endovascular technique.
The objective of this study was to assess the portal/hepatic changes in a newly designed canine model for Budd-Chiari syndrome (BCS). The inferior vena cava (IVC) was occluded using a diagram stent under general anesthesia in 10 mongrel dogs under the guidance of percutaneous angiography. Five dogs that received IVC angiography only were used as sham controls. Occlusion of the IVC increased the diameter of the hepatic veins, portal vein, and IVC. Massive ascites, significantly increased abdominal circumference, varying degrees of esophageal varices, congestion, cirrhosis, and fibrosis of the liver were also noted. BCS could be readily established by placing a diaphragm-stent in the IVC via a percutaneous endovascular approach. PMID:23712871
Chen, Shiyuan; Gao, Yong; Yu, Chaowen; Zhang, Mingzhao; Nie, Zhonglin
Chiari and Syringomyelia Consortium: a model of multidisciplinary and sharing path for rare diseases.
Piemonte and Valle d'Aosta Interregional Network for Rare Diseases (RD) is a model of "diffuse" network; it involves all the health system specialists devoted to the diagnosis, the therapy and the follow-up of a RD. The Consortium is a multidisciplinary team operating throughout the Region composed of volunteer Physicians and Biologists that promotes periodical meetings to develop shared protocols. In 2008 the Specialist-Technical Committee for the Interregional RD Network approved the set up of the "Chiari and Syringomyelia Consortium" (CSC) with two specific objectives: to identify the shared diagnostic criteria and to develop the interdisciplinary diagnostic-therapeutic-assistance path (DTAP) to be used interregionally. Other objectives are: to define the prevalence of the pathologies (both symptomatic and asymptomatic, both in adults and children) and to improve collaboration between the patient Associations and the Physicians. PMID:21922315
Ciaramitaro, Palma; Baldovino, Simone; Roccatello, Dario; Bottacchi, Edo; Faccani, Giuliano
A case of Budd-Chiari syndrome associated with alveolar echinococcosis.
Although alveolar echinococcosis (AE) can cause a serious disease with high mortality and morbidity similar to malign neoplasms. A 62-year-old woman admitted to a hospital located in Sivas, Turkey, with the complaints of fatigue and right upper abdominal pain. On contrast abdominal CT, a 54�70�45 mm sized cystic lesion was detected in the left lobe of the liver that was seen to extend to the posterior mediastinum and invade the diaphragm, esophagus, and pericardium. The cystic lesion was seen to be occluding the inferior vena cava and left hepatic vein at the level where the hepatic veins poured into the inferior vena cava. Bilateral pleural effusion was also detected. We discussed this secondary Budd-Chiari Syndrome (BCS) case, resulting from the AE occlusion of the left hepatic vein and inferior vena cava, in light of the information in literature. PMID:24039293
�akmak, Erol; Alagozlu, Hakan; Gumus, Cesur; Al�, Celiks�z
A caval homograft for Budd-Chiari syndrome due to inferior vena cava obstruction.
Transjugular intrahepatic portosystemic shunt (TIPS) is the standard treatment of Budd-Chiari syndrome (BCS) non responsive to medical therapy. However, patients with inferior vena cava (IVC) obstruction proximal to the atrium do not benefit from TIPS and a surgical approach is mandatory. We report the case of BCS due to intrapericardial IVC obstruction. We describe a novel surgical approach using a fresh caval homograft. An attempt to balloon dilatation of the IVC obstruction was complicated by right atrial disruption with tamponade and ventricular fibrillation. Lately, the patient successfully underwent a reconstruction of the cavo-atrial continuity by the interposition of a fresh caval homograft, a novel surgical approach never described before for BCS. Further follow-up revealed progressive reduction and resolution of ascites, and overall clinical improvement. IVC obstruction near to the atrium can be surgically approached with a new technique consisting in inferior vena cava resection and replacement with a caval homograft. PMID:23717741
Mancuso, Andrea; Martinelli, Luigi; De Carlis, Luciano; Rampoldi, Antonio Gaetano; Magenta, Giovanni; Cannata, Aldo; Belli, Luca Saverio
Suboccipital craniotomy for Chiari I results in evoked potential conduction changes
Background: Management of Chiari I is controversial, in part because there is no widely used quantitative measurement of decompression. It has been demonstrated that brainstem auditory evoked responses (BAER) and somatosensory evoked potentials (SSEP) have decreased conduction latencies after wide craniectomy. We analyzed these parameters in a suboccipital craniectomy/craniotomy procedure. Methods: Thirteen consecutive patients underwent suboccipital decompression for treatment of symptomatic Chiari I. Craniectomy was restricted to the inferior aspect of the nuchal line, and in most cases the bone flap was replaced. Neuronal conduction was monitored continuously with median nerve somatosensory evoked potentials (M-SEP), posterior tibial nerve somatosensory evoked potentials (T-SEP), BAER, or a combination. The M-SEP N20, T-SEP P37, and BAER V latencies were recorded at four milestones � preoperatively, following craniotomy, following durotomy, and following closure. Results: Five males and eight females, with average age of 9 years, were studied. Clinical improvement was noted in all 13 patients. M-SEP N20 latency decreased from a mean of 18.55 at baseline to 17.75 ms after craniotomy (P = 0.01); to 17.06 ms after durotomy (P = 0.01); and to 16.68 ms after closing (P = 0.02). T-SEP P37 latency did not change significantly. BAER V latency decreased from a mean of 6.25 ms at baseline to 6.14 ms after craniotomy (P = 0.04); to 5.98 ms after durotomy (P = 0.01); and to 5.95 ms after closing (P = 0.45). Conclusion: Significant improvements in conduction followed both craniectomy and durotomy. Bone replacement did not affect these results.
Chen, Jason A.; Coutin-Churchman, Pedro E.; Nuwer, Marc R.; Lazareff, Jorge A.
Laser treatment of oral vascular malformations
NASA Astrophysics Data System (ADS)
Oral Vascular Malformations (OVM) are congenital anomalies characterized by morph-structural and/or functional changes of nature in severity and extension. OVM can affect any type of vessels arterial, venous or lymphatic and any capillary or anatomical. They are divided into two categories: low and high flow. In this study were treated 40 patients with OVM with a range size from 2 mm to 44 mm; they were subjected to clinical examination supported by Colour-Doppler Ultrasound instrumental examination and only for doubt cases the Magnetic Resonance Imaging (MRI) was prescribed. Only low flow venous and capillary malformations were treated by GaAlAs laser (Wiser�, Lambda, Brindole,Italy, 980nm) and KTP laser (SmartLite�, DEKA, Florence, Italy, 532nm) with two different techniques: the Transmucosal Thermophotocoagulation (TMT) and the Intralesional Photocoagulation (ILP). These techniques permitted a good control of haemostasis, avoiding bleeding both during surgery and in the postoperative. It is obtained an excellent and good healing respectively in 10% and 60% of cases, a moderate and poor resolution respectively in 22.5% and 7.5% of cases. A clear diagnosis allowed the management of Venous malformations (VM) by laser devices with wavelengths highly absorbed in haemoglobin in safety and efficacy and according to the principles of minimal invasive surgery. The aim of this study was to verify if the laser is effective in the treatment of OVM for the purpose of the clinical findings and the postoperative course. The Authors concluded that the laser can be considered the "gold standard" for treating OVM.
Romeo, U.; Gaimari, G.; Mohsen, M.; Tenore, G.; Palaia, G.
Comparison of ultrasonography, computed tomography and 99mTc liver scan in diagnosis of Budd-Chiari syndrome.
Ultrasonography, computed tomography and 99mTc liver scanning are all useful in diagnosis of patients with the Budd-Chiari syndrome. In a study to determine their comparative value characteristic findings were recorded in all nine patients at ultrasonography and in seven patients at computed tomography. In contrast 99mTc liver scan showed a characteristic pattern in only one of eight patients. In our experience intrahepatic venous abnormalities were seen better at ultrasonography than at computed tomography. In addition, abnormality in the direction of blood flow could be detected by pulsed Doppler examination. Ultrasonography is relatively inexpensive, readily accessible, does not require administration of radiation or contrast agents and therefore should be the primary non-invasive investigation of patients with Budd-Chiari syndrome, or those at risk of developing it. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4
Gupta, S; Barter, S; Phillips, G W; Gibson, R N; Hodgson, H J
Endovascular management of spinal arteriovenous malformations.
Spinal arteriovenous malformations (sAVMs) are rare vascular lesions whose natural history remains incompletely defined. Several classification schemes for sAVMs have evolved based on an improved understanding of the anatomic characteristics as well as pathophysiologic behavior of these arteriovenous shunts. Advances in endovascular technology have inspired the adoption of interventional techniques both as stand-alone treatment and as part of a multi-modality management paradigm for sAVMs. Further refinements in liquid embolic agents as well as improved microcatheter navigability will contribute to an ever-expanding role for endovascular intervention in the management of these lesions. PMID:22935350
Ducruet, Andrew F; Crowley, R Webster; McDougall, Cameron G; Albuquerque, Felipe C
Spinal Arteriovenous Malformation Masquerating Zoster Sine Herpete
Zoster sine herpete (ZSH) is difficult to diagnosis during an acute period due to the absence of the characteristic zosteriform dermatomal rash; therefore, progression to postherpetic neuralgia is more common than typical zoster. In addition, misdiagnosis of other neuropathic pain as ZSH is common in clinical situations. Here, we report a case of spinal arteriovenous malformation that mimics ZSH. This is a rare condition; therefore, high clinical suspicion for a correct diagnosis and proper examination are not easy. However, early diagnosis and definitive treatment are essential to prevent neurologic deficit and mortality.
Lee, Ji Young; Ok, Se Jin; Oh, Chang Keun; Park, Sun Kyung; Kim, Do Wan
Pediatric aneurysms and vein of Galen malformations
Pediatric aneurysms are different from adult aneurysms � they are more rare, are giant and in the posterior circulation more frequently than in adults and may be associated with congenital disorders. Infectious and traumatic aneursyms are also seen more frequently. Vein of Galen malformations are even rarer entities. They may be of choroidal or mural type. Based on the degree of AV shunting they may present with failure to thrive, with hydrocephalus or in severe cases with heart failure. The only possible treatment is by endovascular techniques � both transarterial and transvenous routes are employed. Rarely transtorcular approach is needed. These cases should be managed by an experienced neurointerventionist.
Rao, V. R. K.; Mathuriya, S. N.
Intraventricular Cavernous Malformation Radiologically Mimicking Meningioma
We report a case of trigonal cavernous malformation (CM) radiologically mimicking meningioma. The computed tomographic (CT) head angiography and magnetic resonance imaging (MRI) showed a partially calcified lesion with slight contrast enhancement located in the area of the left atrium of lateral ventricle. The lesion was completely removed using microsurgery with a parieto-occipital transcortical approach. The resected mass was histologically confirmed as CM. CM should be considered as differential diagnosis in case of the atrial mass lesion due to lack of hemosiderin ring characteristically seen other seated CM.
Jin, Sung-Chul; Ahn, Jae-Sung; Kwon, Do Hoon
Animal Model for Cerebral Arteriovenous Malformation
Summary��\\u000a ?Background. The present study was conducted to establish an animal model for the investigation of the pathophysiology and haemodynamics\\u000a of cerebral arteriovenous malformation (AVM) but also to assess therapeutic aspects.\\u000a \\u000a \\u000a \\u000a ?Method. For anatomic and haemodynamic reasons, dogs were chosen as the animal model. An arteriovenous fistula was created by interposing\\u000a a segment of the superficial temporal artery between one
T. A. Pietil�; J. M. Zabramski; A. Th�llier-Janko; K. Duveneck; W. D. Bichard; M. Brock; R. F. Spetzler
Treatment of the Budd-Chiari syndrome in polycythemia vera by repeated percutaneous transluminal angioplasty of a hepatic vein stenosis
This report is of a 63-year-old man with polycythemia vera who developed the Budd-Chiari syndrome due to right hepatic vein stenosis. Diagnosis was made by laparoscopy and liver biopsy, and confirmed by hepatic venography. The patient was treated by percutaneous transluminal angioplasty, and recovered completely from ascites, leg oedema and venous stasis. No pulmonary embolism was observed. One month after
M. Nishikawa; S. Miyoshi; Y. Imai; S. Tarui; K. Seki; Y. Minami; S. Kawata; H. Nakamura
Embolization of Vascular Malformations in Head and Neck Regions
Summary The purpose of this study is to determine the effectiveness of embolization of each type of vascular malformation. Thirty three patients with a diagnosis of vascular malformations in head and neck regions who were treated by embolization at Siriraj Hospital, Thailand, between 1997-2002 were reviewed retrospectively. There were 19 arteriovenous malformations (AVMs), two arteriolar-capillary types, ten venous malformations, one veno-lymphatic malformation and one mixed capillary and venous types. The goal of treatment is to restore function and to prevent bleeding complications with particularly good cosmetic results. The technique and therapeutic agents depended on the types and flow characteristics of each malformation. Transarterial embolization with N-butyl cyanoacrylate were used in AVMs, unless no arterial route approach, then direct puncture was tried. This was carried out in five patients with AVMs. Polyvinyl alcohol was used in two capillary lesions. All venous malformations were treated by absolute alcohol injection, percutaneously. All had good outcome without serious complications. Two patients had further plastic surgery, one was AVM of eyelid and the other was facial venolymphatic malformation. Embolization is considered to be the primary treatment by eradication of those abnormal vessels directly at the target, whereas delayed plastic surgery may be needed later.
Churojana, A.; Chiewwit, P.; Chuangsuwanich, A.; Aojanepong, C.; Chawalaparit, O.; Suthipongchai, S.
Long term respiratory outcomes of congenital thoracic malformations.
The advent of universal antenatal ultrasonography in many countries has revealed the full spectrum of congenital thoracic malformations (CTMs) and presented clinicians with a number of practical dilemmas to do with diagnosis and management. We present a review of the most common forms of CTMs, including congenital cystic adenomatoid malformation, bronchopulmonary sequestration, and lobar and segmental emphysema. PMID:22305631
Davenport, Mark; Eber, Ernst
Congenital Malformations in Perinatal Autopsies - A Study of 100 Cases
Background Congenital malformations remain a common cause of perinatal deaths and even though ultrasonogram can give fairly accurate diagnosis, perinatal autopsy is essential to confirm the diagnosis and look for associated malformations. Objectives To emphasize the importance of perinatal autopsy in diagnosing congenital malformations and to compare the same with the prenatal ultrasound findings. Methods The present study comprises 100 consecutive perinatal autopsies conducted after obtaining the approval from the Institutional Ethics Committee. In cases where prenatal ultrasound findings were available they were compared with the autopsy findings. Results Out of 100 perinatal autopsies, 44 cases were congenital anomalies with M:F = 1:1.5. Majority of the fetuses with congenital malformations (36.36%) were therapeutically terminated, Cental nervous system malformations being the commonest indication. The most common timing of therapeutic termination being 20 -24weeks. Congenital malformations were common between 35-39 weeks gestational age and birth weight range 350- 1000g. The malformations involving the central nervous system were commonest, seen in 15 cases (34.09%) followed by renal anomalies in 9 cases (20.45%) and multiple malformations in 7cases ( 15.91%). Autopsy confirmed the prenatal ultrasound findings in 50% of the cases, added to diagnosis in 29.54%, while it completely changed the primary diagnosis in 9.09% of the cases. Conclusion This study highlights the importance of perinatal autopsy in confirming the diagnosis of congenital anomalies by prenatal ultrasound findings.
Andola, Uma S; AM, Anita; Ahuja, Mukta; Andola, Sainath K
Ethanol Sclerotherapy of Superficial Venous Malformation: A New Procedure
Background: Superficial venous malformations (SVM) are the most frequent vascular malformations. Outpatient percutaneous treatment with ethanol injection has rarely been described. Objective: To analyze the results from treating SVM patients with ethanol sclerotherapy. Methods: 81 patients were followed up prospectively over a median period of 18 months. 47 were female and 34 were male with a median age of 21
Jos� Luiz Orlando; Jose Guilherme Mendes Pereira Caldas; Heloisa Galv�o do Amaral Campos; Kenji Nishinari; Nelson Wolosker
Variations of some elements in cadmium-induced malformed fish
Reports of malformation induced by cadmium such as the appearance of vertebral anomalies in carp have been described by the present author. In this paper, the appearance of such malformed fish by exposure to cadmium was confirmed in a repeat experiment. Decalcification of the fish was studied from spinal x-ray photographs and the results of some elements analysis.
Muramoto, S.
Dandy-Walker malformation: prenatal diagnosis and prognosis
IntroductionThe difficulty in prognosticating the clinical and intellectual outcome of fetuses presenting with a Dandy-Walker malformation (DWM) comes from the great variety of cystic, median, and retrocerebellar malformations that probably have nothing in common and the variability of the definitions given to these lesions. In addition, many of these lesions can mimic each other. A correct diagnosis cannot be made
O. Klein; A. Pierre-Kahn; N. Boddaert; D. Parisot; F. Brunelle
Vaginal agenesis or distal vaginal atresia associated with anorectal malformations
Background: Mayer-Rokitansky-K�ster-Hauser syndrome is defined as M�llerian aplasia with vaginal agenesis and uterine remnants. It is commonly associated with renal and sometimes vertebral anomalies. MRKH syndrome or distal vaginal atresia is sometimes associated with anorectal malformations. The purpose of this study was to describe seven females with vaginal agenesis or distal vaginal atresia and an anorectal malformation and review the
Tomas Wester; Juan A. Tovar; Risto J. Rintala
Cerebral Arteriovenous Malformation Embolized through Persistent Primitive Hypoglossal Artery
Summary Carotid-vertebral anastomoses are commonly detected as incidental findings. But sometimes these channels are important for the clinical condition of the patient. Here a case of right thalamo-capsular arteriovenous malformation is described where a persistent primitive hypoglossal artery was the only route for embolization of the arteriovenous malformation.
Gupta, A.K.
Congenital malformations in 4224 children conceived after IVF
BACKGROUND: The percentage of children born after IVF will continue to increase due to demographic changes such as increasing maternal age and new developments in assisted reproduction techniques. IVF conceptions may carry an increased risk of congenital malformations. METHODS: We compared overall and specific congenital malformation rates calculated for IVF children (n 4224) and naturally conceived children (n 314 605),
S. Anthony; S. E. Buitendijk; C. A. Dorrepaal; K. Lindner; D. D. M. Braat; A. L. den Ouden
Neuropsychological Features of Dementia due to Dural Arteriovenous Malformation
We report two patients aged 65 and 61 years, who presented a subacute dementia with normal CT scan without contrast injection. Angiography showed a dural arteriovenous malformation. The patients improved dramatically with treatment of the malformation. Dementia was characterised by frontal dysfunction, emotional disorders, mnesic and praxic impairment. This neuropsychological pattern suggests a profile of global dementia in the field
Assia Serradj Jaillard; Blandine Peres; Marc Hommel
Childhood cerebrovascular diseases not associated with vascular malformations
Of 76 patients in the pediatric age group suffering from cerebrovascular diseases treated in the years 1970�1983, 26 patients (34%) did not harbor intracranial vascular malformations (aneurysms or arterovenous malformations). Two groups of patients were identified: (a) those suffering from a spontaneous intracranial hemorrhage (16 cases); (b) those suffering from an ischemic stroke (10 cases). Of those with spontaneous intracranial
C. Mazza; A. Pasqualin; P. Cavazzani; B. Dalla Bernardina; R. Pian
Anthelmintic induced congenital malformations in sheep embryos using netobimin
Benzimidazole compounds have teratogenic effects in domestic and experimental animals. In this study, 14 Manchega ewes were treated orally, under controlled conditions, with 20 mg netobimin (a prodrug of a benzimidazole compound) per\\/kg bodyweight on the 17th day of pregnancy. Congenital malformations and abortions affected 60 per cent of the lambs. The main malformations were skeletal and renal, but vascular
M. Navarro; C. Cristofol; A. Carretero; M. Arboix; J. Ruberte
The ear and its malformations: strange beliefs and misconceptions
Objective. To explore the strange beliefs and misconceptions related to the ear and its malformations, and how these have changed from ancient times until today.Methods. Ancient documents, journal articles, and history books were studied to research ancient and current beliefs and misconceptions with regard to the ear and its malformations.Results. The ear has been the centre of various beliefs and
Irene E Gamatsi; Thomas P Nikolopoulos; Dimitra E Lioumi
Future aerospace ground test facility requirements for the Arnold Engineering Development Center
NASA Technical Reports Server (NTRS)
Arnold Engineering Development Center (AEDC) was conceived at the close of World War II, when major new developments in flight technology were presaged by new aerodynamic and propulsion concepts. During the past 40 years, AEDC has played a significant part in the development of many aerospace systems. The original plans were extended through the years by some additional facilities, particularly in the area of propulsion testing. AEDC now has undertaken development of a master plan in an attempt to project requirements and to plan for ground test and computational facilities over the coming 20 to 30 years. This report was prepared in response to an AEDC request that the National Research Council (NRC) assemble a committee to prepare guidance for planning and modernizing AEDC facilities for the development and testing of future classes of aerospace systems as envisaged by the U.S. Air Force.
Kirchner, Mark E.; Baron, Judson R.; Bogdonoff, Seymour M.; Carter, Donald I.; Couch, Lana M.; Fanning, Arthur E.; Heiser, William H.; Koff, Bernard L.; Melnik, Robert E.; Mercer, Stephen C.
Families made by science. Arnold Gesell and the technologies of modern child adoption.
This essay considers the effort to transform child adoption into a modern scientific enterprise during the first half of the twentieth century via a case study of Arnold Gesell (1880-1961), a Yale developmentalist well known for his studies of child growth and the applied technologies that emerged from them: normative scales promising to measure and predict development. Scientific adoption was a central aspiration for many human scientists, helping professionals, and state regulators. They aimed to reduce the numerous hazards presumed to be inherent in adopting children, especially infants, who were not one's "own." By importing insights and techniques drawn from the world of science into the practical world of family formation, scientific adoption stood for kinship by design. This case study explores one point of intersection between the history of science and the history of social welfare and social policy, simultaneously illustrating the cultural progress and power of scientific authority and the numerous obstacles to its practical realization. PMID:11921680
Herman, E
Metabolic characteristics of cortical malformations causing epilepsy
Purpose Cortical malformations (CMs) are increasingly recognized as the epileptogenic substrate in patients with medically refractory neocortical epilepsy (NE). The aim of this study was to test the hypotheses that: 1. CMs are metabolically heterogeneous. 2. The structurally normal appearing perilesional zone is characterized by similar metabolic abnormalities as the CM. Methods Magnetic resonance spectroscopic imaging (MRSI) in combination with tissue segmentation was performed on eight patients with NE and CMs and 19 age-matched controls. In controls, NAA, Cr, Cho, NAA/Cr and NAA/Cho of all voxels of a given lobe were expressed as a function of white matter content and thresholds for pathological values determined by calculating the 95% prediction intervals. These thresholds were used to identify metabolically abnormal voxels within the CM and in the perilesional zone. Results 30% of all voxels in the CMs were abnormal, most frequently because of decreases of NAA or increases of Cho. Abnormal voxels tended to form metabolically heterogeneous clusters interspersed in metabolically normal regions. Furthermore, 15% of all voxels in the perilesional zone were abnormal, the most frequent being decreases of NAA and Cr. Conclusion In CMs metabolically normal regions are interspersed with metabolically heterogeneous abnormal regions. Metabolic abnormalities in the perilesional zone share several characteristics of CMs and might therefore represent areas with microscopic malformations and/or intrinsic epileptogenicity.
Mueller, Susanne G.; Barakos, Jerome A.; Cashdollar, Nathan; Flenniken, Derek L.; Vermathen, Peter; Matson, Gerald B.; Weiner, Michael W.
Imaging in spine and spinal cord malformations.
Spinal and spinal cord malformations are collectively named spinal dysraphisms. They arise from defects occurring in the early embryological stages of gastrulation (weeks 2-3), primary neurulation (weeks 3-4), and secondary neurulation (weeks 5-6). Spinal dysraphisms are categorized into open spinal dysraphisms (OSDs), in which there is exposure of abnormal nervous tissues through a skin defect, and closed spinal dysraphisms (CSD), in which there is a continuous skin coverage to the underlying malformation. Open spinal dysraphisms basically include myelomeningocele and other rare abnormalities such as myelocele and hemimyelo(meningo)cele. Closed spinal dysraphisms are further categorized based on the association with low-back subcutaneous masses. Closed spinal dysraphisms with mass are represented by lipomyelocele, lipomyelomeningocele, meningocele, and myelocystocele. Closed spinal dysraphisms without mass comprise simple dysraphic states (tight filum terminale, filar and intradural lipomas, persistent terminal ventricle, and dermal sinuses) and complex dysraphic states. The latter category further comprises defects of midline notochordal integration (basically represented by diastematomyelia) and defects of segmental notochordal formation (represented by caudal agenesis and spinal segmental dysgenesis). Magnetic resonance imaging (MRI) is the preferred modality for imaging these complex abnormalities. The use of the aforementioned classification scheme is greatly helpful to make the diagnosis. PMID:15081131
Rossi, Andrea; Biancheri, Roberta; Cama, Armando; Piatelli, Gianluca; Ravegnani, Marcello; Tortori-Donati, Paolo
Embryonic development and malformation of lymphatic vessels.
In the human, malformations of lymphatic vessels can be observed as lymphangiectasia, lymphangioma and lymphangiomatosis, with a prevalence of 1.2-2.8 per thousand. Their aetiology is unknown and a causal therapy does not exist. We investigated the origin of lymphatic endothelial cells (LECs) in avian and murine embryos, and compared the molecular profile of LECs from normal and malformed lymphatics of children. In avian embryos, Prox1+ lymphangioblasts are located in the confluence of the cranial and caudal cardinal veins, where the jugular lymph sac (JLS) forms. Cell lineage studies show that the JLS is of venous origin. In contrast, the lymphatics of the dermis are derived from mesenchymal lymphangioblasts located in the dermatomes, suggesting a dual origin of LECs in avian embryos. The same may hold true for murine embryos, where Lyve1+ LEC precursors are found in the cardinal veins, and in the mesenchyme. The mesenchymal cells express the pan-leukocyte marker CD45, indicating a cell type with lymphendothelial and leukocyte characteristics. In the human, such cells might give rise to Kaposi's sarcoma. Microarray analyses of LECs from lymphangiomas of children show a large number of regulated genes, such as VEGFR3. Our studies show that lymphvasculogenesis and lymphangiogenesis occur simultaneously in the embryo, and suggest a function for VEGFR3 in lymphangiomas. PMID:18300425
Wilting, J�rg; Buttler, Kerstin; R�ssler, Jochen; Norgall, Susanne; Schweigerer, Lothar; Weich, Herbert A; Papoutsi, Maria
Sirenomelia and caudal malformations in two families.
We report on two families with co-occurrence of sirenomelia and caudal malformations. In the first family, the mother had undergone surgery for a short form of imperforate anus. Her first pregnancy was terminated because of bilateral renal agenesis with oligohydramnios. Her second pregnancy was interrupted because of sirenomelia. The second family was referred to us because of caudal malformation in their two children. The parents' spinal radiographs were normal. The first pregnancy resulted in a girl with imperforate anus, absence of S3-S5 and coccyx, abnormal pelvic floor, and an almost bifid anteriorly located bladder. The second pregnancy resulted in a baby girl with sirenomelia. No diabetes was present during the pregnancies in either of these two families. These families confirm the hypothesis that major genes are responsible for the embryogenesis of the caudal part of the embryo, with variable expression, as has been already described in sirenomelia mouse models (CYP26A1, BMP7/tsg). Molecular studies are underway in these families and in sporadic cases in our laboratory to explore the genetic basis of sirenomelia in humans. PMID:22522670
Gerard, Marion; Layet, Val�rie; Costa, Teresa; Roumazeilles, Yves; Chenal, Pierre; Cailliez, Daniel; Gerard, B�n�dicte
Congenital malformations, reproductive wastage and consanguineous mating.
A study was undertaken in Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, South India, to understand the relation between congenital developmental disorders and consanguinity and also reproductive wastage and consanguinity. Four hundred children with existing congenital developmental disorders were studied with regard to their consanguineous parentage and compared with 1,000 randomly selected patients attending the paediatric outpatient department. There was a significantly higher prevalence of consanguinity in the study group (p < 0.001) and greater frequency in rural areas. The common types of consanguineous marriages were between first cousins (50.6%) and uncle and niece (42.4%). Frequency of consanguinity was not significantly related to religion and caste. The mean coefficient of inbreeding was 0.056. Consanguinity had no significant effect on average pregnancy rate and reproductive wastage. The frequency of consanguinity was significantly higher especially with autosomal recessive disorders (p < 0.001), congenital heart diseases (p < 0.001), multiple malformations (p < 0.001), neurological malformations (p < 0.005), chromosomal disorders (p < 0.01), genitourinary disorders (p < 0.02) and mental retardation-developmental disorders (p < 0.02). These observations stress the need for communicating the deleterious effects of inbreeding to the public through regular health education. PMID:7684587
Jain, V K; Nalini, P; Chandra, R; Srinivasan, S
Mid-hindbrain malformations due to drugs taken during pregnancy.
Although genetic defects are the leading cause of central nervous system malformations including in the posterior fossa, specific malformative patterns should alert the clinician to consider rather a teratogenic etiology. We discuss the imaging features of 2 mid-hindbrain malformations consecutive to the intake of isotretinoin (Roaccuatane�; case 1) and misoprostol (Cytotec�; case 2) during pregnancy and review the pertinent literature. We correlate the morphological appearance of the mid-hindbrain malformation, as seen on high-resolution magnetic resonance imaging to possible drug-induced pathogenetical mechanisms. The recognition of characteristic imaging patterns enables diagnosis of and/or confirmation of suspected drug-induced hindbrain malformations. This has important medicolegal implications and also clinical significance to avoid unsuccessful and misleading genetic testing. PMID:23390117
Merlini, Laura; Fluss, Jo�l; Dhouib, Amira; Vargas, Maria I; Becker, Minerva
Multiple Venous Malformations with Phleboliths: Radiological-Pathological Correlation
Vascular malformations are congenital lesions that are present at birth and do not regress. However, they often present later in life. They are subdivided into two categories: (1) slow- or low-flow and (2) fast- or high-flow malformations. Low-flow malformations contain combinations of capillary, venous, and lymphatic components. Venous malformations can occur anywhere in the body, but are most frequently seen in the head and neck (40%). These lesions present in a variety of ways, from a vague blue patch to a soft blue mass, which may be single isolated or may occur in multiple areas. Treatment depends on the type of lesion, the location, degree of involvement, and the clinical symptoms. Here we are report the imaging and histopathologic findings in a patient with multiple venous malformations affecting the left side of the face and trunk.
Chava, Venkateswara Rao; Shankar, Ashwini Naveen; Vemanna, Naveen Shankar; Cholleti, Sudheer Kumar
Aggressive giant cystic lymphatic malformation in a newborn.
Lymphatic malformations are uncommon, benign and congenital malformations of the lymphatic system exhibiting lack of development of communication between the lymphatic and venous circulation. We report the unusual case of rapidly expanding giant lymphatic malformation of the torso, bilateral axillae and left upper extremity of a newborn. As the first-line treatment, aspiration and sclerotherapy with bleomycin were performed. The sclerotherapy failed to cause regression of the mass, and rapid expansion of the malformation necessitated surgery. Partial resection of the mass was performed. Clinical symptoms of respiratory distress resolved in the early postoperative period, and the patient became hemodynamically stable. However, intrathoracic invasion of the mass developed, leading to restriction of thoracic expansion, ending in death. In conclusion, surgical treatment of giant lymphatic malformations remains challenging. PMID:24292043
Cal??, Mert; Kona?, Ersoy; Takc?, ?ahin; Yurdak�k, Murat; Tun�bilek, G�khan
Ground-Water Levels and Water-Quality Data for Wells in the Spring Creek Area Near Arnold Air Force Base, Tennessee, April and May 2000.
National Technical Information Service (NTIS)
Arnold Air Force Base (AAFB) occupies about 40,000 acres in Coffee and Franklin Counties, Tennessee. Numerous site-specific groundwater contamination investigations have been conducted at designated solid waste management units (SWMU's) at AAFB. Seve...
S. D. Williams R. A. Aycock
Associated malformations in patients with limb reduction deficiencies.
Infants with limb reduction deficiencies (LRD) often have other associated congenital malformations. The purpose of this investigation was to assess the prevalence and the types of associated malformations in a defined population. This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for malformations was continued until 1 year of age. The associated malformations in infants with LRD were collected in all livebirths, stillbirths and terminations of pregnancy during 25 years in 347,810 consecutive births in the area covered by our population based registry of congenital malformations. Of the 271 LRD infants born during this period, representing a prevalence of 7.8 per 10,000, 57.9% had associated malformations. There were 17(6.3%) patients with chromosomal abnormalities including 10 trisomies 18, and 62 (22.9%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VA(C)TER(L) association. However numerous recognized dysmorphic conditions were registered including Poland, ectrodactyly-ectodermal dysplasia-clefting, oral-facial-digital, Klippel-Trenaunay-Weber, oculo-auriculo-vertebral defect spectrum, CHARGE, Townes-Brocks, Moebius, Du Pan, Smith-Lemli-Opitz, hypoglossia-hypodactyly, amniotic band, De Lange, Rubinstein-Taybi, Fanconi, radius aplasia- thrombocytopenia, Roberts, Holt-Oram, and fetal diethylstilbestrol. Seventy eight (28.8%) of the patients were multiply, non-syndromic, non chromosomal malformed infants (MCA). Malformations in the cardiac system, in the genital system, and in the central nervous system were the most common other malformations, 11.4%, 9.4%, and 7.7% of the associated malformations, respectively, followed by malformations in the renal system (4.8%), and in the digestive system (4.6%). Prenatal diagnosis was performed in 48.4% of dysmorphic syndromes with LRD. The overall prevalence of associated malformations, which was more than one in two infants, emphasizes the need for a thorough investigation of infants with LRD.A routine screening for other malformations especially cardiovascular system, urogenital system, central nervous system, and digestive system may be considered in infants and in fetuses with LRD. PMID:20670696
Stoll, Claude; Alembik, Yves; Dott, Beatrice; Roth, Marie-Paule
[The hand: embryology and main malformative mechanisms].
Upper limb bud appears in the cervical region of the embryo during the fifth week of development. It is made of epithelia and underlying mesenchyme. Diffusible growth factors, expressed by the apical ectodermal ridge, direct the proximal-distal growth. Other factors are expressed by zone of polarizing activity and ectoderm. They induce together anterior-posterior growth and dorsal-ventral polarity of the limb bud. The development of axial skeleton pattern is controlled by transcription factors from the HOX family, which are expressed in a stripe along the proximal and distal edges of the limb bud. Embryologic mechanisms of the main hand malformations are described, as well as their known genetic or mechanical aetiologies. PMID:18838286
Perrin, J; Geoffroy-Siraudin, C; Metzler-Guillemain, C
Malformations and the Manx Syndrome in Cats
Breeding experiments were conducted on cats with congenital taillessness, to test the dissemination pattern of taillessness in their offspring. Clinical evaluation, radiographic analysis of the vertebral column and histological studies of the digestive tract and central nervous tissue were conducted to determine the association of malformations of these systems in cats born with different degrees of taillessness noted in the rumpy and stumpy cats. The mode of transmission of the tailless (Manx) condition assumed to be through an autosomal dominant factor (M) was confirmed by this investigation. It is hypothesized that the problems associated with the tailless condition such as spina bifida, urinary and faecal incontinence and locomotor disturbances of the pelvic limbs may all be related to a disturbance affecting the development of the central nervous system in the early embryonic life. ImagesFigure 3.Figure 4.Figure 5.Figure 6.Figure 7.Figure 8.Figure 9.Figure 10.
DeForest, M. E.; Basrur, P. K.
Complications of Embolization for Cerebral Arteriovenous Malformations
Summary Embolization is recognized as an important adjunct in the treatment of cerebral arteriovenous malformations (AVMs). We reviewed our results of embolizations for AVMs and discussed procedure-related complications. Eleven complications were recorded in 68 consecutive patients (16%). Of these, four were technical problems including a glued catheter, inability to withdraw the catheter, vessel perforation by the microcatheter, and coil migration. Other complications included three cases of ischemic symptoms due to retrograde thrombosis, two cases of asymptomatic cerebral infarction, one case of asymptomatic small haemorrhage due to venous occlusion, and one case of post-embolization haemorrhage of unknown etiology. Our morbidity rate was 7%, mortality rate was 0%, and asymptomatic complication torospectively. Further improvements to endovascular techniques and devices are required.
Sugiu, K.; Tokunaga, K.; Sasahara, W.; Watanabe, K.; Nishida, A.; Ono, S.; Nishio, S.; Date, I.; Rufenacht, D. A.
Familial Dandy-Walker malformation and leukodystrophy.
We report the first familial cases with two different types of posterior fossa cystic malformation and a leukodystrophic-like aspect on cerebral magnetic resonance imaging (MRI). The girl and her brother had severe encephalopathy, marked hypotonia, absent deep tendon reflexes, macrocrania, gigantism, and dysmorphic face and extremities. The girl had generalized seizures. The boy had unilateral cataract and bilateral optic atrophy. The parents were first cousins, suggesting autosomal recessive transmission. MRI showed Dandy-Walker variant in the girl, with cerebellar vermis hypoplasia and expansion of the cisterna magna, which communicated with the fourth ventricle. Her brother had mega cisterna magna communicating with the fourth ventricle and a normal cerebellum. The 2 children had abnormally high signal in the supratentorial white matter. Visual and auditory evoked potentials revealed prolonged latencies. Motor and sensory conduction velocities were normal. Muscle and nerve biopsies were normal. Metabolic exploration demonstrated no abnormality. PMID:9258968
Humbertclaude, V T; Coubes, P A; Leboucq, N; Echenne, B B
Diagnosis and management of pulmonary arteriovenous malformations
Pulmonary arteriovenous malformation is a rare anomaly that presents in several different ways. It can present as an isolated finding, or more often in the context of hereditary haemorrhagic telangiectasia. It can also complicate palliative surgery such as the Glenn operation for complex congenital heart disease with single ventricle physiology. Its management includes transcatheter embolization, which is the preferred mode of therapy, surgery (including resection of the affected lobe, segment, or the fistula itself), or rarely, medical therapy. Complications of the disease itself and of various modes of treatment are relatively common, and patients require close surveillance for possible recurrence, or development of new fistulas. In cases related to the Glenn operation, redirection of hepatic venous flow or heart transplantation may cure the problem.
Papagiannis, J; Apostolopoulou, S; Sarris, GE; Rammos, S
Recent advances in the genetic etiology of brain malformations.
In the past few years, the increasing accessibility of next-generation sequencing technology has translated to a number of significant advances in our understanding of brain malformations. Genes causing brain malformations, previously intractable due to their complex presentation, rarity, sporadic occurrence, or molecular mechanism, are being identified at an unprecedented rate and are revealing important insights into central nervous system development. Recent discoveries highlight new associations of biological processes with human disease including the PI3K-AKT-mTOR pathway in brain overgrowth syndromes, the trafficking of cellular proteins in microcephaly-capillary malformation syndrome, and the role of the exosome in the etiology of pontocerebellar hypoplasia. Several other gene discoveries expand our understanding of the role of mitosis in the primary microcephaly syndromes and post-translational modification of dystroglycan in lissencephaly. Insights into polymicrogyria and heterotopias show us that these 2 malformations are complex in their etiology, while recent work in holoprosencephaly and Dandy-Walker malformation suggest that, at least in some instances, the development of these malformations requires "multiple-hits" in the sonic hedgehog pathway. The discovery of additional genes for primary microcephaly, pontocerebellar hypoplasia, and spinocerebellar ataxia continue to impress upon us the significant degree of genetic heterogeneity associated with many brain malformations. It is becoming increasingly evident that next-generation sequencing is emerging as a tool to facilitate rapid and cost-effective molecular diagnoses that will be translated into routine clinical care for these rare conditions in the near future. PMID:23793931
Dyment, David A; Sawyer, Sarah L; Chardon, Jodi Warman; Boycott, Kym M
A developmental and genetic classification for midbrain-hindbrain malformations
Advances in neuroimaging, developmental biology and molecular genetics have increased the understanding of developmental disorders affecting the midbrain and hindbrain, both as isolated anomalies and as part of larger malformation syndromes. However, the understanding of these malformations and their relationships with other malformations, within the central nervous system and in the rest of the body, remains limited. A new classification system is proposed, based wherever possible, upon embryology and genetics. Proposed categories include: (i) malformations secondary to early anteroposterior and dorsoventral patterning defects, or to misspecification of mid-hindbrain germinal zones; (ii) malformations associated with later generalized developmental disorders that significantly affect the brainstem and cerebellum (and have a pathogenesis that is at least partly understood); (iii) localized brain malformations that significantly affect the brain stem and cerebellum (pathogenesis partly or largely understood, includes local proliferation, cell specification, migration and axonal guidance); and (iv) combined hypoplasia and atrophy of putative prenatal onset degenerative disorders. Pertinent embryology is discussed and the classification is justified. This classification will prove useful for both physicians who diagnose and treat patients with these disorders and for clinical scientists who wish to understand better the perturbations of developmental processes that produce them. Importantly, both the classification and its framework remain flexible enough to be easily modified when new embryologic processes are described or new malformations discovered.
Millen, Kathleen J.; Dobyns, William B.
[A surgical case of tectal cavernous malformation presented by hydrocephalus].
We report a surgical case of tectal cavernous malformation presented by hydrocephalus. This 30-year-old man suffered from headache and nausea due to an obstructive hydrocephalus caused by a cavernous malformation in the tectum. Magnetic resonance (MR) images on admission showed a small lesion depicted as isointensity on the T1-weighted image, hyperintensity on the T2-weighted image, and accompanied with peripheral low-signal intensity rim, suggesting a tectal cavernous malformation. After admission, ventricular drainage was performed and the patient's symptoms improved immediately. He underwent a ventriculoperitoneal shunt ten days after the ventricular drainage. Postoperative CT scan showed an enlargement of the tectal mass with hemorrhagic change, but there was no deterioration in his neurological status. Cerebral angiography demonstrated no vascular stain or venous malformation. Microsurgical removal of the tectal mass was then performed via an occipital transtentorial approach. Histopathology proved a cavernous malformation and MR images at follow-up demonstrated total excision. Postoperatively, an upward gaze palsy appeared, but gradually improved within a month. Management strategy of brain stem cavernous malformation is controversial. Occasionally, brain stem hemorrhage may become critical. Therefore, we recommend aggressive surgical extirpation of symptomatic brain stem cavernous malformation, if it is accessible, if hemorrhage is present, and if the patient's condition permits it. PMID:11806112
Fujiwara, Satoshi; Ohta, Masahiro; Takeda, Tetsuji; Kohno, Kanehisa; Takechi, Akihiko; Kawada, Yasuchika; Shinohara, Naoki; Sasaki, Ushio
Maternal hypothyroidism in early pregnancy and infant structural congenital malformations.
Background. The question is debated on whether maternal hypothyroidism or use of thyroxin in early pregnancy affects the risk for infant congenital malformations. Objectives. To expand the previously published study on maternal thyroxin use in early pregnancy and the risk for congenital malformations. Methods. Data from the Swedish Medical Birth Register were used for the years 1996-2011 and infant malformations were identified from national health registers. Women with preexisting diabetes or reporting the use of thyreostatics, anticonvulsants, or antihypertensives were excluded from analysis. Risk estimates were made as odds ratios (ORs) or risk ratios (RRs) after adjustment for year of delivery, maternal age, parity, smoking, and body mass index. Results. Among 23?259 infants whose mothers in early pregnancy used thyroxin, 730 had a major malformation; among all 1?567?736 infants, 48012 had such malformations. The adjusted OR was 1.06 (95% CI 0.98-1.14). For anal atresia the RR was 1.85 (95% CI 1.00-1.85) and for choanal atresia 3.14 (95% CI 1.26-6.47). The risk of some other malformations was also increased but statistical significance was not reached. Conclusions. Treated maternal hypothyroidism may be a weak risk factor for infant congenital malformations but an association with a few rare conditions is possible. PMID:24744955
K�ll�n, Bengt; Norstedt Wikner, Birgitta
Long-term Outcome of Budd-Chiari Syndrome: A Single Center Experience
BACKGROUND Budd-Chiari syndrome (BCS) is defined as hepatic venous outflow obstruction(HVOO). BCS is an uncommon, life-threatening liver disorder. This studydescribes the clinical and etiological characteristics in addition to the longtermoutcome of BCS in a single referral center in Tehran, Iran. METHODS We reviewed long-term outcome of patients who were diagnosed with BCSbetween 1989 and 2012 at Shariati Hospital, a tertiary hospital affiliated withTehran University of Medical Sciences, Tehran, Iran. The diagnosis was confirmedby at least two imaging techniques. A comprehensive analysis of theclinical and paraclinical manifestations, etiology and long-term outcome of thedisease was conducted. RESULTS Seventy one patients (43 female) with a diagnosis of Budd-Chiari syndromewere identified during the 22 year period of study. The age were ranged from17 to 64 years (median: 29 years). We excluded 16 patients because of incompleteinformation or follow up. The remaining 55 cases were the subjects ofthis study. Underlying etiologies consisted of congenital thrombophilia factorsin 50% (28 cases) which was defined as protein C deficiency (12 cases),protein S deficiency (3 cases), antithrombin deficiency (3 cases) and factor VLeiden mutation (10 cases). Etiology was unknown in 18% (10 cases). Acquiredcauses of thrombophilia were observed in 25% (14 cases) that consistedof 9 cases of myeloproliferative disease and 5 cases of autoimmune diseases.In 3 cases pregnancy was the only etiology. The main clinical presentationswere abdominal pain in 33 (60%), abdominal distention in 21 (38.2%), andjaundice in 10 (18%) cases. The main clinical signs were ascites (76.4%), splenomegaly(34%), hepatomegaly (25.5%) and deep vein thrombosis (1.8%). All55 patients were treated with anticoagulants (heparin followed by warfarin)and supportive care. Two cases underwent mesocaval shunt surgery, 2 patientsrequired transjugular portosystemic shunt (TIPS) and 5 were referred for livertransplantation. A total of 17 (30%) patients died during 22 years of follow up. CONCLUSION BCS, although uncommon in Iran, is a challenging liver disease with an importantburden. Medical therapy that includes anticoagulation seems to be effectivein most cases although the prognosis is guarded. In long-term followup, 40% of cases will need liver transplant or die from end stage liver disease.
Nozari, Neda; Vossoghinia, Hassan; Malekzadeh, Fatemeh; Kafami, Lila; Mirheidari, Mahyar; Malekzadeh, Reza
Amplatzer vascular plugs in congenital cardiovascular malformations
Background: Amplatzer vascular plugs (AVPs) are devices ideally suited to close medium-to-large vascular communications. There is limited published literature regarding the utility of AVPs in congenital cardiovascular malformations (CCVMs). Aims: To describe the use of AVPs in different CCVMs and to evaluate their safety and efficacy. Materials and Methods: All patients who required an AVP for the closure of CCVM were included in this retrospective review of our catheterization laboratory data. The efficacy and safety of AVPs are reported. Results: A total of 39 AVPs were implanted in 31 patients. Thirteen (33%) were AVP type I and 23 (59%) were AVP type II. AVP type III were implanted in two patients and type IV in one patient. The major indications for their use included closure of pulmonary arteriovenous malformation (AVM) (n = 7), aortopulmonary collaterals (n = 7), closure of a patent Blalock-Taussig shunt (n = 5), systemic AVM (n = 5), coronary AVM (n = 4), patent ductus arteriosus (PDA) (n = 3), pulmonary artery aneurysms (n = 3), and venovenous collaterals (n = 2). Deployment of the AVP was done predominantly via the 5 � 7F Judkin's right coronary guide catheter. Overall 92% of the AVPs could be successfully deployed and resulted in occlusion of the target vessel in all cases, within 10 minutes. No procedure-related or access site complication occurred. Conclusions: AVPs are versatile, easy to use, and effective devices to occlude the vascular communications in a variety of settings. AVP II is especially useful in the closure of tubular structures with a high flow.
Barwad, Parag; Ramakrishnan, Sivasubramanian; Kothari, Shyam S; Saxena, Anita; Gupta, Saurabh K; Juneja, Rajnish; Gulati, Gurpreet Singh; Jagia, Priya; Sharma, Sanjiv
Temporary umbilical loop colostomy for anorectal malformations.
Transumbilical surgical procedures have been reported to be a feasible, safe, and cosmetically excellent procedure for various pediatric surgical diseases. Umbilical loop colostomies have previously been created in patients with Hirschsprung's disease, but not in patients with anorectal malformations (ARMs). We assessed the feasibility and cosmetic results of temporal umbilical loop colostomy (TULC) in patients with ARMs. A circumferential skin incision was made at the base of the umbilical cord under general anesthesia. The skin, subcutaneous tissue, and fascia were cored out vertically, and the umbilical vessels and urachal remnant were individually ligated apart from the opening in the fascia. A loop colostomy was created in double-barreled fashion with a high chimney more than 2 cm above the level of the skin. The final size of the opening in the skin and fascia was modified according to the size of the bowel. The bowel wall was fixed separately to the peritoneum and fascia with interrupted 5-0 absorbable sutures. The bowel was opened longitudinally and everted without suturing to the skin. The loop was divided 7 days postoperatively, and diversion of the oral bowel was completed. The colostomy was closed 2-3 months after posterior saggital anorectoplasty through a peristomal skin incision followed by end-to-end anastomosis. Final wound closure was performed in a semi-opened fashion to create a deep umbilicus. TULCs were successfully created in seven infants with rectourethral bulbar fistula or rectovestibular fistula. Postoperative complications included mucosal prolapse in one case. No wound infection or spontaneous umbilical ring narrowing was observed. Skin problems were minimal, and stoma care could easily be performed by attaching stoma bag. Healing of umbilical wounds after TULC closure was excellent. The umbilicus may be an alternative stoma site for temporary loop colostomy in infants with intermediate-type anorectal malformations, who undergo radical anorectoplasty via a non-abdominal approach. PMID:23001137
Hamada, Yoshinori; Takada, Kohei; Nakamura, Yusuke; Sato, Masahito; Kwon, A-Hon
Contribution of Rare Copy Number Variants to Isolated Human Malformations
Background Congenital malformations are present in approximately 2�3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly understood, although it is hypothesized that the accumulation of rare genetic, genomic and epigenetic variants converge to deregulate developmental networks. Methodology/Principal Findings We selected samples from 95 fetuses with congenital malformations not ascribed to a specific syndrome (68 with isolated malformations, 27 with multiple malformations). Karyotyping and Multiplex Ligation-dependent Probe Amplification (MLPA) discarded recurrent genomic and cytogenetic rearrangements. DNA extracted from the affected tissue (46%) or from lung or liver (54%) was analyzed by molecular karyotyping. Validations and inheritance were obtained by MLPA. We identified 22 rare copy number variants (CNV) [>100 kb, either absent (n?=?7) or very uncommon (n?=?15, <1/2,000) in the control population] in 20/95 fetuses with congenital malformations (21%), including 11 deletions and 11 duplications. One of the 9 tested rearrangements was de novo while the remaining were inherited from a healthy parent. The highest frequency was observed in fetuses with heart hypoplasia (8/17, 62.5%), with two events previously related with the phenotype. Double events hitting candidate genes were detected in two samples with brain malformations. Globally, the burden of deletions was significantly higher in fetuses with malformations compared to controls. Conclusions/Significance Our data reveal a significant contribution of rare deletion-type CNV, mostly inherited but also de novo, to human congenital malformations, especially heart hypoplasia, and reinforce the hypothesis of a multifactorial etiology in most cases.
Serra-Juhe, Clara; Rodriguez-Santiago, Benjamin; Cusco, Ivon; Vendrell, Teresa; Camats, Nuria; Toran, Nuria; Perez-Jurado, Luis A.
A large class of non-zonal oceanic flows satisfying the arnold-blumen sufficient condition for stability
Recently Andrews has discussed an example of a topographically-forced non-zonal now satisfying the Arnold-Blumen sufficient condition for stability. At large distances from the topographic centre this flow becomes purely zonal and westward. After underlining the richness of solutions of the Andrews model, the present paper goes on to show that Andrews' technique can be applied successfully to a model where
Ettore Salusti; Francesco Zirilli
Maternal diabetes mellitus and congenital malformation. Survey of 205 cases.
Twenty-five out of 205 (i.e. 12%) babies born to diabetic mothers in the Birmingham Maternity Hospital in the period 1969-1974 were malformed as against 6% in a control group. The incidence was highest in the group where mothers were on insulin at the time of conception (17 out of 117, i.e. 15%). No correlation was observed between major malformation in this group and age of onset or duration of the diabetes, progressive vascular complications, maternal age, or parity. Cardiovascular malformations were over-represented.
Day, R E; Insley, J
Otosclerosis associated with type B-1 inner ear malformation
Summary Malformations of bony inner ear are rare anomalies occurring in approximately 20% of patients with congenital sensorineural hearing loss. Conductive hearing loss is usually associated with abnormalities of the external and middle ear. Recent reports of patients with lateral semicircular canal malformations indicate inner ear malformations to be associated with sensorineural or conductive hearing loss. Differential diagnosis of conductive hearing loss should include otosclerosis, isolated ossicular deformities, inner ear anomalies or a combination of these. In this report, a case is described with right vestibule-lateral semicircular canal dysplasia presenting at our centre with bilateral otosclerosis.
De Stefano, A; Dispenza, F; Aggarwal, N; Russo, A
[Giant venous malformation of the tongue: the value of Surgiflo].
Cavernous hemangiomas are rare congenital venous malformations having propensity for the head and neck. These venous malformations, especially the large and intraoral ones, may cause severe symptoms requiring aggressive treatment. Today, the main treatment is based on sclerotherapy, associated or no with surgery. We report on a patient presenting an enormous venous malformation of the face and tongue, which was treated successfully in our department by embolization, sclerotherapy and maxillo-facial surgery, with a special focus on Surgiflo in our technique. PMID:20399053
Slaba, S; Braidy, C; Sader, R B; Hokayem, N; Nassar, J
Budd-Chiari syndrome and hepatic adenomas associated with oral contraceptives. A case report.
Budd Chiari Syndrome, characterized by massive ascites, hepatomegaly, abdominal pain, and tenderness, nausea, and vomiting, is caused by obstruction of the hepatic venous outflow. Of the known causes of polycythemia rubra vera, hypernephroma, and other tumors invading the inferior vena cava have been most often reported, while pregnancy and oral contraceptives (OCs) have also been held as causes. In this paper the case is presented of a young woman, previously on OCs for 4 months, who developed the syndrome 2 weeks after delivery; she was also found to have multiple hepatic adenomas on laparotomy. The longterm use of OCs has been estimated to be associated with an annual incidence of liver cell adenoma of 3-4/100,000. Evidence suggests that the estrogen components, rather than the progesterone, of OCs seem more likely to cause liver cell adenoma since estrogens are carcinogenic in other organs and promote liver cell regeneration in rats. By interference with the metabolism of oncogenic bile salt derivatives, estrogen may exert its oncogenic effect. The patient is this case was told never to use OCs again since there is also evidence that the tumor may regress on stopping OCs, and she was advised against further pregnancies. PMID:6272427
Tong, H K; Fai, G L; Ann, L T; Hock, O B
Hepatocellular carcinoma associated with budd-chiari syndrome: imaging features and transcatheter arterial chemoembolization
Background Budd�Chiari syndrome (BCS) often leads to hepatocellular carcinoma (HCC). Transcatheter arterial chemoembolization (TACE) has been increasingly used to treat BCS patients with HCC. The purposes of this study were to illustrate imaging features in BCS patients with HCC, and to analyze the effects of TACE on BCS patients with HCC. Methods 246 consecutive patients with primary BCS were retrospectively studied. 14 BCS patients with HCC were included in this study. BCS were treated with angioplasty and/or stenting, and HCC were managed with TACE. Imaging features on ultrasonography, CT, MRI, and angiography and the serum AFP level were analyzed. Results Inferior vena cava block and stricture of hepatic venous outflow tract more frequently occurred. Portal vein invasion was found in only 2 patients (14.2%). Imaging studies showed that most nodules of HCC were near the edge of liver, irregular, more than 3 cm in diameter, heterogeneous mass and solitary (?3 nodules). HCC in patients associated with BCS was isointense or hypointense in nonenhanced CT images, and exhibited heterogeneous enhancement during the arterial phase and washout during the portal venous phase on enhanced CT and MRI. The serum AFP level significantly declined after TACE treatment. Conclusions BCS patients with inferior vena cava block and stricture of hepatic venous outflow tract seems to be associated with HCC. A single, large, irregular nodule with a peripheral location appears to be HCC. TACE can effectively treat HCC in BCS patients.
Mesenteric lymphatic malformation associated with acute appendicitis: a case report
Introduction Mesenteric lymphatic malformations are rare, benign tumors that are most commonly found in children. The presentation of these tumors is variable and may either be innocuous or life threatening. It has been suggested that mesenteric lymphatic malformations are congenital; however, there is evidence that their growth may be stimulated by local trauma. Case presentation We describe the first case of a mesenteric lymphatic malformation associated with acute appendicitis in a 13-year-old Caucasian boy. The patient is well six months after surgical excision of the tumor. Conclusion The reader should be aware that growth and/or development of mesenteric lymphatic malformations may be associated with trauma and other pro-inflammatory processes.
Malformation syndromes associated with disorders of sex development.
When embryological development of the internal and/or external genitalia is disrupted, the patient presents with a disorder of sex development (DSD) in the neonatal period or sometime later in life. Some of these patients have other, nongenital malformations, which makes their overall management more complex than if they just had a DSD. This Review summarises these malformation syndromes and discusses the recent research into their aetiology. The genetic causes of these malformation syndromes, when they are known, will also be described. Many specific genetic mutations are now known in malformation syndromes with a defect in hormonal function. By contrast, the genetic causes remain unknown in many nonhormonal morphological anomalies that affect the genitalia. PMID:24913517
Hutson, John M; Grover, Sonia R; O'Connell, Michele; Pennell, Samuel D
Macrocephaly-capillary malformation presenting with fetal arrhythmia.
Macrocephaly-capillary malformation (OMIM 602501) is a rare overgrowth and asymmetry syndrome. Cardiac arrhythmias were reported to occur in few patients. We present a case in which fetal arrhythmia was the presenting symptom of the syndrome. PMID:22329570
Kuint, Jacob; Globus, Omer; Ben Simon, Guy J; Greenberger, Shoshana
Limited PCB Antagonism of TCDD-Induced Malformations in Mice.
National Technical Information Service (NTIS)
Mice used to model induction of cleft palate and kidney malformations in offspring following maternal treatment with TCDD, were dosed on gestation day with hexachlorobiphenyl (HCB) and/or with tetrachlorodibenzo-p-dioxin (TCDD) to investigate the potentia...
R. E. Morrissey M. W. Harris J. J. Diliberto L. S. Birnbaum
Prenatal Diagnosis of Unusual Fetal Pial Arteriovenous Malformation
Summary Cerebral arteriovenous malformations (C-AVMs) are rarely diagnosed in utero. Most prenatal imaging of intracranial vascular malformations relates to Vein of Galen aneurysmal malformations (VGAMs) or Dural Arteriovenous Malformations (D-AVMs). We report a case of a fetal pial AVF with multiple fistulae and venous pouches, which appeared as an anechoic lesion on the prenatal ultrasound scan. The patient was asymptomatic with normal postnatal growth. No haemodynmaic disturbance was evident. Postnatal Computed tomography (CT), Magnetic Resonance Imaging (MRI) and catheter Digital Subtraction Angiography (DSA) confirmed the presence of a pial AVF. The angiographic findings and family history of nose bleeds suggests the diagnosis of Hereditary Hemorrhagic Telangiectasia. The largest AVF was embolized with tissue adhesive; the residual AVF subsequently removed by surgical excision.
Auyeung, K.M.; Laughlin, S.; TerBrugge, K.G.
Robotic-assisted anorectal pull-through for anorectal malformations
Background\\/purposeMany reports have addressed the feasibility and safety of using robotic surgery in children. To our knowledge, no published report has described the use of a surgical robot in the repair of anorectal malformations (ARMs).
Abdulrahman AlBassam; Abdulmonem Gado; Mohammed Saquib Mallick; Mohammed AlNaami; Weaam Al-shenawy
MRI characteristics and classification of peripheral vascular malformations and tumors
Vascular malformations and tumors comprise a broad spectrum of lesions that can cause significant morbidity and even mortality\\u000a in children and adults. Classification of vascular malformations into high flow and low flow has significant impact on management\\u000a since the main treatment of the former is transarterial embolization and the later percutaneous sclerotherapy. Magnetic resonance\\u000a imaging (MRI) is a noninvasive effective
Hicham Moukaddam; Jeffrey Pollak; Andrew H. Haims
Detachable balloon occlusion of vascular malformations in young patients.
Two patients (11 and 23 months old, respectively) had successful transcatheter occlusion of congenital arterio-venous or veno-venous malformations using detachable silicone balloons. Patient 1 with a cervicofacial hemangioma had selective embolization of the feeding artery with two balloons. Patient 2, with a veno-venous malformation between a systemic vein and pulmonary vein also had selective embolization of the lesion with two balloons. Follow-up examinations confirm a successful outcome in both cases. PMID:8894781
Sreeram, N; Miller, P; John, P
Posterior nutcracker phenomenon in patient with renal arteriovenous malformation.
A 31-year-old woman was referred to our hospital because of gross hematuria. Radiologic examinations with computed tomography and magnetic resonance imaging revealed renal arteriovenous malformation in the right kidney and an entrapped retroaortic left renal vein. Because the patient was free of hematuria, she refused additional treatment for economic reasons. Renal arteriovenous malformation associated with the posterior nutcracker phenomenon is a very rare condition. PMID:23031411
Qin, Jie; Zheng, Xiang-Yi; Jiang, Hai
Congenital malformations and perinatal morbidity associated with intestinal neuronal dysplasia
A close relation between different forms of dysganglionosis such as intestinal neuronal dysplasia (IND) type B and aganglionosis\\u000a has been established. No systematic analysis of other malformations and diseases accompanying IND has been made as yet. Congenital\\u000a malformations and perinatal morbidity were analyzed in 109 patients with IND seen at the Department of Pediatric Surgery in\\u000a Mainz from 1977 to
S. Berger; P. Ziebell; M. Kessler; S. Hofmann-von Kap-herr
Lymphatic malformations: A dilemma in diagnosis and management
Lymphatic malformations of the head and neck, also known as lymphangiomas or cystic hygromas, are a diverse group of lesions. Lymphangiomas represent benign hamartomatous tumors of lymphatic vessels with a marked predilection for the head, neck and oral cavity. These lesions, like most of the swellings occurring in the neck, frequently pose a dilemma in diagnosis and treatment. This is a case report of a lymphatic malformation which presented as a painless mass in the lower border of mandible.
Ramashankar; Prabhakar, Chandan; Shah, Nishit Kumar; Giraddi, Girish
Contemporary Themes: Congenital Malformations and the Problem of their Control*
The possibility of preventing or reducing the prevalence of human congenital malformations is discussed in the light of current knowledge about their aetiology. The original data presented are derived from an epidemiological study of all the infants (92,982) born in the three years 1964-6 to women resident in a defined area of South Wales and all the congenital malformations (3,242) discovered in those infants by the second anniversary of their birth.
Lowe, C. R.
Orbital venous-lymphatic malformations (lymphangiomas) mimicking cavernous hemangiomas
PURPOSE: To illustrate that orbital venous-lymphatic malformations (lymphangiomas) may rarely simulate cavernous hemangiomas.METHODS: Retrospective case review.RESULTS: Five patients were identified from a series of 85 patients with venous-lymphatic malformations. The age range was 21 to 69 years, and all cases presented with a history of slowly progressive or long-standing proptosis. Computerized tomography revealed relatively homogeneous intraconal masses that were well
Dinesh Selva; Diego Strianese; Giulio Bonavolonta; Jack Rootman
Macrocephaly-Cutis Marmorata Telangiectatica Congenita (Macrocephaly-Capillary Malformation)
This recently recognised entity (OMIM # 602501) (OMIM 2006) is characterised by the association of macrocephaly (megalencephaly),\\u000a capillary malformation of the cutis marmorata telangectatica congenita type, cavernous haemangioma, asymmetric growth pattern,\\u000a central nervous system malformations, and neurological abnormalities (Clayton-Smith et al. 1997, Gerritsen et al. 2000, Moore et al. 1997, Lapunzina et al. 2004). Despite extensive investigation of many of
Pablo Lapunzina; Jill Clayton-Smith
Limb malformations and abnormal sex hormone concentrations in frogs.
Declines in amphibian populations, and amphibians with gross malformations, have prompted concern regarding the biological status of many anuran species. A survey of bullfrogs, Rana catesbeiana, and green frogs, Rana clamitans, conducted in central and southern New Hampshire showed malformed frogs at 81% of the sites sampled (13 of 16 sites). Brain gonadotropin-releasing hormone (GnRH) and the synthesis of androgens and estradiol, hormones essential to reproductive processes, were measured from limb-malformed and normal (no limb malformation) frogs. Normal frogs had significantly higher concentrations (nearly 3-fold) of in vitro produced androgens and of brain GnRH than malformed frogs. Because most malformations are thought to occur during development, we propose that environmental factors or endocrine-disrupting chemicals that may cause developmental abnormalities also act during early development to ultimately cause abnormally reduced GnRH and androgen production in adult frogs. The consequences of reduced GnRH and androgens on anuran reproductive behavior and population dynamics are unknown but certainly may be profound and warrant further research.
Sower, S A; Reed, K L; Babbitt, K J
Sleep Spindle Alterations in Patients with Malformations of Cortical Development
Malformations of cortical development are disorders of altered brain anatomy and architecture that arise from abnormalities in the usual processes of cerebral cortical development. Although they often lead to epilepsy, cognitive delay, and motor impairment, little is known about their effect on sleep. Since malformations may anatomically or functionally disrupt the cerebral circuits that mediate sleep spindles, we hypothesized that these disorders would be associated with abnormal spindle characteristics. We analyzed the density, maximum frequency, laterality and distribution of sleep spindles seen in routine and long-term electroencephalographic recordings performed in ten brain malformation subjects and ten matched controls. There were no significant differences in spindle density or maximum frequency between the two groups, but malformation subjects had a significantly lower proportion of bilateral spindles and a significantly higher proportion of anterior and diffuse spindles compared to controls. In addition, unilateral malformations appeared to be associated with a skewing of unilateral spindles toward the contralateral side. Our findings suggest that brain malformations disrupt the thalamocortical circuits responsible for sleep spindle generation, and support the need for further studies on the relationships between cortical maldevelopment and sleep.
Selvitelli, Megan F.; Krishnamurthy, Kaarkuzhali B.; Herzog, Andrew G.; Schomer, Donald L.; Chang, Bernard S.
Periodic orbits of the ensemble of Sinai-Arnold cat maps and pseudorandom number generation
NASA Astrophysics Data System (ADS)
We propose methods for constructing high-quality pseudorandom number generators (RNGs) based on an ensemble of hyperbolic automorphisms of the unit two-dimensional torus (Sinai-Arnold map or cat map) while keeping a part of the information hidden. The single cat map provides the random properties expected from a good RNG and is hence an appropriate building block for an RNG, although unnecessary correlations are always present in practice. We show that introducing hidden variables and introducing rotation in the RNG output, accompanied with the proper initialization, dramatically suppress these correlations. We analyze the mechanisms of the single-cat-map correlations analytically and show how to diminish them. We generalize the Percival-Vivaldi theory in the case of the ensemble of maps, find the period of the proposed RNG analytically, and also analyze its properties. We present efficient practical realizations for the RNGs and check our predictions numerically. We also test our RNGs using the known stringent batteries of statistical tests and find that the statistical properties of our best generators are not worse than those of other best modern generators.
Barash, L.; Shchur, L. N.
Periodic orbits of the ensemble of Sinai-Arnold cat maps and pseudorandom number generation.
We propose methods for constructing high-quality pseudorandom number generators (RNGs) based on an ensemble of hyperbolic automorphisms of the unit two-dimensional torus (Sinai-Arnold map or cat map) while keeping a part of the information hidden. The single cat map provides the random properties expected from a good RNG and is hence an appropriate building block for an RNG, although unnecessary correlations are always present in practice. We show that introducing hidden variables and introducing rotation in the RNG output, accompanied with the proper initialization, dramatically suppress these correlations. We analyze the mechanisms of the single-cat-map correlations analytically and show how to diminish them. We generalize the Percival-Vivaldi theory in the case of the ensemble of maps, find the period of the proposed RNG analytically, and also analyze its properties. We present efficient practical realizations for the RNGs and check our predictions numerically. We also test our RNGs using the known stringent batteries of statistical tests and find that the statistical properties of our best generators are not worse than those of other best modern generators. PMID:16605692
Barash, L; Shchur, L N
[Budd-Chiari syndrome, pulmonary thromboembolism, and deep venous thrombosis associated with "lupus anticoagulant" and recent use of oral contraceptives].
The Budd-Chiari syndrome is the clinical manifestation of the total or partial obstruction of the hepatic veins and/or inferior vena cava. It is an infrequent cause of portal hypertension. The chronic presentation is the most frequent and is characterized by right upper quadrant pain, hepatomegaly, and ascites of slow onset. We report a case of a 26 year old woman affected by this disorder associated to a recent use of oral contraceptive and a "Lupus Anticoagulant". She subsequently developed deep venous thrombosis and pulmonary embolism. She died almost 6 years after the onset of symptoms. PMID:2152314
Bacci, S; Urquiola, G; del M�dico, P; Sanabria, J A; Bacci, J C; Guzm�n, M; Poleo, J R
Budd-Chiari syndrome: hepatic venous web outflow obstruction treated by percutaneous placement of hepatic vein stent.
Budd-Chiari syndrome (BCS) denotes a heterogeneous group of diseases characterized by hepatic venous outflow obstruction at the level of the hepatic veins or inferior vena cava resulting in portal hypertension. Traditional approach to treatment of BCS involves systemic thrombolysis and surgical portosystemic shunt or transjugular intrahepatic portosystemic shunt in progressive cases of BCS or as a bridge to transplantation. Recently, an increasing number of successful reports of BCS therapy have involved endovascular techniques, including angioplasty and stent placement. The present report illustrates successful percutaneous recanalization of complete hepatic vein occlusion by angioplasty and stent implantation in a patient with membranous obstruction. PMID:21326746
Bozorgmanesh, Alireza; Selvam, D Arul; Caridi, James G
Complications caused by cerebral arteriovenous malformation embolization.
We describe the complications of endovascular embolization for cerebral arteriovenous malformations (AVMs). 164 consecutive patients with AVMs treated by endovascular embolization between 1998 and 2003 were retrospectively reviewed. Over a five-year period, 292 embolization procedures were performed in 164 patients with embolization as the primary treatment modality (n=126) or as an adjunct to surgery (n =14) or radiosurgery (n=24). There were a total of 15 (9.1% per patient, 5.1% per procedure) complications in this series, of which 14 were clinically significant (8.5% of patients, 4.8% per procedure), and one was a technical complication (0.6% of patients, 0.3% per procedure). Excellent or good outcomes (Glasgow Outcome Scale ? 4) were observed in 136 (82.9%) patients at discharge. Neurological deficits (Glasgow Outcome Scale 1-4) as a direct result of embolization were 7.3% at discharge. In a single-center, retrospective, nonrandomized study, 82.9% of patients had excellent or good outcomes at discharge after AVM embolization, with a complication rate of 5.1%. PMID:24029089
Sun, Y; Lv, X; Li, Y; Li, A
Stereotactic linac radiosurgery for arteriovenous malformations.
Stereotactic linear accelerator (linac) radiosurgery has been in operation in the West Midlands since 1987, the first of its kind in the United Kingdom. Forty two patients with high-flow cerebral arteriovenous malformations have been treated, 26 of whom have been followed up. Angiography one year after treatment showed that five lesions were obliterated, 11 were reduced in size and/or flow rate and 10 were unchanged. Overall results show that nine out of 10 patients reviewed at 24 months had total obliteration. Three patients had complications; one has fully recovered, one died of an unrelated cause at 36 months and the other died from recurrent haemorrhage at nine months. Two patients had recurrent non-fatal haemorrhage within 24 months of treatment; both recovered without further deficit. All patients are fit to work but eight are unemployed. Although the follow up period is short, the early results indicate a success rate similar to those published by others using linac radiosurgery. Images
Kenny, B G; Hitchcock, E R; Kitchen, G; Dalton, A E; Yates, D A; Chavda, S V
Developmental biology and genetics of dental malformations.
The synthesis of tooth development biology with human studies focusing on inherited conditions that specifically interfere with tooth development is improving our understanding of normal and pathological tooth formation. The type of inherited dental malformations observed in a given kindred relate to when, during odontogenesis, the defective gene is critically expressed. Information about the protein encoded by the defective gene and the resulting dental phenotype helps us understand the major processes underway at different stages during tooth development. Genes affecting early tooth development (PAX9, MSX1, and AXIN2) are associated with familial tooth agenesis or oligodontia. Genes expressed by odontoblasts (COL1A1, COL1A2, and DSPP), and ameloblasts (AMELX, ENAM, MMP20, and KLK4) during the crown formation stage, are associated with dentinogenesis imperfecta, dentin dysplasia, and amelogenesis imperfecta. Late genes expressed during root formation (ALPL and DLX3) are associated with cementum agenesis (hypophosphatasia) and taurodontism. Understanding the relationships between normal tooth development and the dental pathologies associated with inherited diseases improves our ability to diagnose and treat patients suffering the manifestations of inherited dental disorders. PMID:17552940
Hu, Jan C-C; Simmer, James P
Congenital Pulmonary Airway Malformation (Congenital Cystic Adenomatoid Malformation) with Multiple Extrapulmonary Anomalies: Autopsy Report of a Fetus at 19 Weeks of Gestation
Congenital pulmonary airway malformation, or congenital cystic adenomatoid malformation, is postulated to be a disorder of pulmonary airway morphogenesis and encompasses 5 different types with distinct levels or stages of tracheobronchial development. We present a unique case of type 2 congenital pulmonary airway malformation with a previously undocumented combination of multiple extrapulmonary anomalies, featuring ipsilateral multicystic renal dysgenesis, contralateral renal
Truc T. Pham; Kurt Benirschke; Eliezer Masliah; J. Thomas Stocker; Eunhee S. Yi
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs and high risk for fast-flow lesions. A limited number of patients have been reported, raising the question of the phenotypic borders. We identified new patients with a clinical diagnosis of CM-AVM, and patients with overlapping phenotypes. RASA1 was screened in 261 index patients with: CM-AVM (n�=�100), common CM(s) (port-wine stain; n�=�100), Sturge-Weber syndrome (n�=�37), or isolated AVM(s) (n�=�24). Fifty-eight distinct RASA1 mutations (43 novel) were identified in 68 index patients with CM-AVM and none in patients with other phenotypes. A novel clinical feature was identified: cutaneous zones of numerous small white pale halos with a central red spot. An additional question addressed in this study was the "second-hit" hypothesis as a pathophysiological mechanism for CM-AVM. One tissue from a patient with a germline RASA1 mutation was available. The analysis of the tissue showed loss of the wild-type RASA1 allele. In conclusion, mutations in RASA1 underscore the specific CM-AVM phenotype and the clinical diagnosis is based on identifying the characteristic CMs. The high incidence of fast-flow lesions warrants careful clinical and radiologic examination, and regular follow-up. PMID:24038909
Revencu, Nicole; Boon, Laurence M; Mendola, Antonella; Cordisco, Maria Rosa; Dubois, Jos�e; Clapuyt, Philippe; Hammer, Frank; Amor, David J; Irvine, Alan D; Baselga, Eulalia; Dompmartin, Anne; Syed, Samira; Martin-Santiago, Ana; Ades, Lesley; Collins, Felicity; Smith, Janine; Sandaradura, Sarah; Barrio, Victoria R; Burrows, Patricia E; Blei, Francine; Cozzolino, Mariarosaria; Brunetti-Pierri, Nicola; Vicente, Asuncion; Abramowicz, Marc; D�sir, Julie; Vilain, Catheline; Chung, Wendy K; Wilson, Ashley; Gardiner, Carol A; Dwight, Yim; Lord, David J E; Fishman, Leona; Cytrynbaum, Cheryl; Chamlin, Sarah; Ghali, Fred; Gilaberte, Yolanda; Joss, Shelagh; Boente, Maria Del C; L�aut�-Labr�ze, Christine; Delrue, Marie-Ange; Bayliss, Susan; Martorell, Loreto; Gonz�lez-Ense�at, Maria-Antonia; Mazereeuw-Hautier, Juliette; O'Donnell, Brid; Bessis, Didier; Pyeritz, Reed E; Salhi, Aicha; Tan, Oon T; Wargon, Orli; Mulliken, John B; Vikkula, Miikka
Treatment of Budd-Chiari syndrome with a focus on transjugular intrahepatic portosystemic shunt
AIM: To evaluate long-term complications and survival in patients with Budd-Chiari syndrome (BCS) referred to a Danish transjugular intrahepatic portosystemic shunt (TIPS) centre. METHODS: Twenty-one consecutive patients from 1997-2008 were retrospectively included [15 women and 6 men, median age 40 years (range 17-66 years)]. Eighteen Danish patients came from the 1.8 million catchment population of Aarhus University Hospital and three patients were referred from Scandinavian hospitals. Management consisted of tests for underlying haematological, endocrinological, or hypercoagulative disorders parallel to initiation of specific treatment of BCS. RESULTS: BCS was mainly caused by thrombophilic (33%) or myeloproliferative (19%) disorders. Forty-three percents had symptoms for less than one week with ascites as the most prevalent finding. Fourteen (67%) were treated with TIPS and 7 (33%) were manageable with treatment of the underlying condition and diuretics. The median follow-up time for the TIPS-treated patients was 50 mo (range 15-117 mo), and none required subsequent liver transplantation. Ascites control was achieved in all TIPS patients with a marked reduction in the dose of diuretics. A total of 14 TIPS revisions were needed, mostly of uncovered stents. Two died during follow-up: One non-TIPS patient worsened after 6 mo and died in relation to transplantation, and one TIPS patient died 4 years after the TIPS-procedure, unrelated to BCS. CONCLUSION: In our BCS cohort TIPS-treated patients have near-complete survival, reduced need for diuretics and compared to historical data a reduced need for liver transplantation.
Neumann, Anders Bay; Andersen, Stine Degn; Nielsen, Dennis T?nner; Holland-Fischer, Peter; Vilstrup, Hendrik; Gr?nbaek, Henning
Treatment of Budd-Chiari syndrome with inferior vena cava thrombosis
The aim of this study was to evaluate the initial results of 41 patients with Budd-Chiari syndrome (BCS) with inferior vena cava (IVC) thrombosis, with regard to the clinical safety and feasibility of the therapeutic approaches selected according to the classification of the condition. Forty-one patients with BCS and IVC thrombosis were admitted for retrospective analysis. All 41 patients were classified as having one of three types of BCS. Interventional therapy was used successfully in 28 patients (68.3%), 7 patients (17.1%) were given conservative treatment and 6 patients (14.6%) were treated with surgical shunts. The interventional approach was used in 29 patients in total and was successful in 28 patients (all those of types I and II, and 3 of the 4 patients of type III with acute thrombosis; 96.6%). None of these 28 patients had pulmonary embolism, pericardial tamponade or intra-abdominal bleeding. After 1�5 years, 4 patients (9.8%) had a second dilation of the IVC. In the 7 cases treated in a conservative manner, 2 cases succumbed to upper gastrointestinal bleeding and 1 case succumbed to liver and kidney failure. This study indicates that the classification of BCS patients with IVC thrombosis is helpful in selecting a therapeutic approach. Interventional therapy is the first therapeutic choice for BCS patients with IVC thrombosis of type I, type II or type III with acute thrombosis. For the patients of type III with an obsolete thrombus, surgical shunts or conservative treatment are the main therapeutic methods.
Acute partial Budd-Chiari syndrome and portal vein thrombosis in cytomegalovirus primary infection: a case report
Background Splanchnic vein thrombosis may complicate inherited thrombotic disorders. Acute cytomegalovirus infection is a rare cause of acquired venous thrombosis in the portal or mesenteric territory, but has never been described extending into a main hepatic vein. Case presentation A 36-year-old immunocompetent woman presented with acute primary cytomegalovirus infection in association with extensive thrombosis in the portal and splenic vein. In addition, a fresh thrombus was evident in the right hepatic vein. A thorough evaluation for a hypercoagulable state was negative. The clinical course, biological evolution, radiological and histological findings were consistent with cytomegalovirus hepatitis complicated by a partial acute Budd-Chiari syndrome and portal thrombosis. Therapeutic anticoagulation was associated with a slow clinical improvement and partial vascular recanalization. Conclusion We described in details a new association between cytomegalovirus infection and acute venous thrombosis both in the portal vein and in the right hepatic vein, realizing a partial Budd-Chiari syndrome. One should be aware that this rare thrombotic event may be complicated by partial venous outflow block.
Spahr, Laurent; Cerny, Andreas; Morard, Isabelle; Rubbia-Brandt, Laura; Schrenzel, Jacques
ABSTRACT Purpose To review the association of autism spectrum disorder (ASD) in individuals manifesting thalidomide embryopathy and M�bius sequence and compare them with three new studies in which ASD was also associated with ocular and systemic malformations: (1) a Swedish study of individuals with CHARGE association (Coloboma, Heart, choanal Atresia, developmental or growth Retardation, Genital anomaly, and Ear involvement); (2) a Swedish study of Goldenhar syndrome; and (3) Brazilian M�bius syndrome (sequence) study. Methods In the Swedish CHARGE study, 31 patients met the inclusion criteria (3+ or 4 of the common characteristics of the CHARGE syndrome). The same team of investigators also evaluated 20 Swedish patients with Goldenhar syndrome. In the Brazilian M�bius study, 28 children with a diagnosis of M�bius sequence were studied; some children had a history of exposure during their mother�s pregnancy to the abortifacient drug misoprostol in an unsuccessful abortion attempt Results In the CHARGE study, five patients had the more severe autism disorder and five had autistic-like condition. In the Goldenhar study, two had autism disorder and one had autistic-like condition. In the Brazilian M�bius study, the systemic findings of the misoprostol-exposed and misoprostol-unexposed patients were almost undistinguishable, and ASD was present in both groups (autism disorder in five and autistic-like condition in three). Conclusion Autism spectrum disorder has been reported in two conditions with known early pregnancy exposure to the teratogenic agents thalidomide and misoprostol. In the Brazilian M�bius study, autism also occurred in both the misoprostol-exposed and misoprostol-unexposed groups. Autism also was present in patients with both CHARGE association and Goldenhar syndrome.
Miller, Marilyn T; Stromland, Kerstin; Ventura, Liana; Johansson, Maria; Bandim, Jose M; Gillberg, Christopher
Epidemiology and natural history of arteriovenous malformations.
The epidemiology and natural history of cerebral arteriovenous malformations (AVMs) remains incompletely elucidated. Several factors are responsible. With regard to the incidence and prevalence of AVMs, the results of prior studies have suffered because of the retrospective design, the use of nonspecific ICD-9 codes, and a focus on small genetically isolated populations. Recent data from the New York Islands AVM Hemorrhage Study, an ongoing, prospective, population-based survey determining the incidence of AVM-related hemorrhage and the associated rates of morbidity and mortality in a zip code-defined population of 10 million people, suggests that the AVM detection rate is 1.21/100,000 person-years (95% confidence interval [CI] 1.02-1.42) and the incidence of AVM-hemorrhage is 0.42/100,000 person-years (95% CI 0.32-0.55). Contemporaneous data from the Northern Manhattan Stroke Study, a prospective, longitudinal population-based study of nearly 150,000 patients in which the focus is to define the incidence of stroke, suggest the crude incidence for first-ever AVM-related hemorrhage to be 0.55/100,000 person-years (95% CI 0.11-1.61). Efforts are ongoing to study the natural history of both ruptured and unruptured AVMs in these datasets to examine the relevance of prior studies of patients selected for conservative follow up in Finland. In addition, data are being gathered to determine whether risk factors for future hemorrhage, which have previously been established in small case series, are valid when applied to whole populations. Together, these data should help inform therapeutic decisionmaking. PMID:16466233
Stapf, C; Mohr, J P; Pile-Spellman, J; Solomon, R A; Sacco, R L; Connolly, E S
Classical-Quantum correspondence in isomerization dynamics: quantum eigenstates and classical Arnol'd web
NASA Astrophysics Data System (ADS)
Recently, there has been a renaissance of sorts in chemical dynamics with researchers critically examining the validity of the two pillars of reaction rate theory - transition state theory and the Rice-Ramsperger-Kassel-Marcus (RRKM) theory. Since both theories have classical dynamics at their foundation, advances in our understanding of nonlinear dynamics and continuing efforts to characterize the phase space structure of systems with three or more degrees of freedom are beginning to yield crucial mechanistic insights into the dynamics. This talk focuses on a mechanistic understanding of the deviations from RRKM theory for a model isomerization problem with three degrees of freedom. Several studies have established that such systems are prime candidates for observing non-RRKM behaviorootnotetextD. M. Leitner, Int. J. Quant. Chem. 75, 523 (1999).. The model is inspired, and generalized, from a much earlier study by De Leon and BerneootnotetextN. De Leon and B. J. Berne, J. Chem. Phys. 75, 3495 (1981).. We try to answer two of the questions posed in this early work by studying the intramolecular vibrational energy flow in the system from both classical and quantum viewpoints. Using a wavelet-based local frequency analysis it is possible to construct a useful representation of the classical phase space (Arnol'd web) highlighting the important dynamical structures. Insights into the dynamics originate from the various nonlinear resonances and phase space traps which potentially result in quantum eigenstates of varying degree of localizationootnotetextD. M. Leitner and M. Gruebele, Mol. Phys. 106, 433 (2008)..
Keshavamurthy, S.
Defining anural malformations in the context of a developmental problem
This paper summarizes terminology and general concepts involved in animal development for the purpose of providing background for the study and understanding of frog malformations. The results of our radiographic investigation of rear limb malformations in Rana pipiens provide evidence that frog malformations are the product of early developmental errors. Although bacteria, parasites and viruses were identified in these metamorphosed frogs, the relevant window to look for the teratogenic effect of these agents is in the early tadpole stage during limb development. As a result, our microbiological findings must be regarded as inconclusive relative to determining their contribution to malformations because we conducted our examinations on metamorphosed frogs not tadpoles. Future studies need to look at teratogenic agents (chemical, microbial, physical or mechanical) that are present in the embryo, tadpole, and their environments at the stages of development that are relevant for the malformation type. The impact of these teratogenic agents then needs to be assessed in appropriate animal models using studies that are designed to mimic field conditions. The results of these laboratory tests should then be analyzed in such a way that will allow comparison with the findings in the wild-caught tadpoles and frogs.
Meteyer, C. U.; Cole, R. A.; Converse, K. A.; Docherty, D. E.; Wolcott, M.; Helgen, J. C.; Levey, R.; Eaton-Poole, L.; Burkhart, J. G.
Local Model of Arteriovenous Malformation of the Human Brain
NASA Astrophysics Data System (ADS)
Vascular diseases of the human brain are one of the reasons of deaths and people's incapacitation not only in Russia, but also in the world. The danger of an arteriovenous malformation (AVM) is in premature rupture of pathological vessels of an AVM which may cause haemorrhage. Long-term prognosis without surgical treatment is unfavorable. The reduced impact method of AVM treatment is embolization of a malformation which often results in complete obliteration of an AVM. Pre-surgical mathematical modeling of an arteriovenous malformation can help surgeons with an optimal sequence of the operation. During investigations, the simple mathematical model of arteriovenous malformation is developed and calculated, and stationary and non-stationary processes of its embolization are considered. Various sequences of embolization of a malformation are also considered. Calculations were done with approximate steady flow on the basis of balanced equations derived from conservation laws. Depending on pressure difference, a fistula-type AVM should be embolized at first, and then small racemose AVMs are embolized. Obtained results are in good correspondence with neurosurgical AVM practice.
Nadezhda Telegina, Ms; Aleksandr Chupakhin, Mr; Aleksandr Cherevko, Mr
Multiple vascular malformations in head and neck - Rare case report
Multiple venous malformations (VMs) pose some of the most difficult challenges in the practice of medicine today. Clinical manifestations of these lesions are extremely protean. Because of the rarity of these lesions, experience in their diagnosis and management by most clinicians is limited. This augments the enormity of the problem and can lead to misdiagnoses, inadequate treatment, high complication rates and poor patient outcomes. Because these lesions can recur, removal of the nidus is the main priority. Vascular malformations are best treated in medical centers where patients with these maladies are seen regularly and the team approach is utilized. The presence of intralesional nerve in arteriovenous malformation (AVM) and sometimes in VMs, as reported in this study, provides an additional diagnostic criterion that is simple and reliable and can be readily used to differentiate VMs from hemangiomas.
Lakkasetty, Yogesh T; Malik, Sangeeta; Shetty, Akshay; Nakhaei, Kourosh
Venous malformations: Sclerotherapy with a mixture of ethanol and lipiodol
Purpose. To evaluate the usefulness of a mixture of absolute ethanol and lipiodol in the management of venous malformations. Methods. Percutaneous sclerotherapy was performed with a mixture of absolute ethanol and lipiodol (9:1) in 17 patients with venous malformations, once in 12 patients, twice in 5. The therapeutic efficacy was evaluated by pain reduction. Conventional radiographs (n=15) and posttreatment magnetic resonance imaging (n=5) were obtained for the follow-up evaluation. Results. Sclerotherapy was successful in all but two patients. The therapeutic effect was excellent in two patients, good in seven, fair in five, and poor in one. Radiopacity of lipiodol was beneficial for monitoring the procedure rather than for follow-up evaluations. Areas with low signal-intensity strands were increased on T2-weighted images obtained after the sclerotherapy. Conclusion. Sclerotherapy with a mixture of ethanol and lipiodol is effective in treating venous malformations.
Suh, Jin-Suck [Yonsei University, College of Medicine, Department of Diagnostic Radiology (Korea, Republic of); Shin, Kyoo-Ho [Yonsei University, College of Medicine, Department of Orthopedic Surgery (Korea, Republic of); Na, Jae-Bum [Kyungsang University, College of Medicine, Department of Diagnostic Radiology (Korea, Republic of); Won, Jong-Yun [Yonsei University, College of Medicine, Department of Diagnostic Radiology (Korea, Republic of); Hahn, Soo-Bong [Yonsei University, College of Medicine, Department of Orthopedic Surgery (Korea, Republic of)
Sudden death from ruptured choroid plexus arteriovenous malformation.
Brain vascular malformations are recognized as having potential to produce hemorrhage, but leading to sudden death in children is uncommon. Arteriovenous malformations may be situated in any region of the brain, but very rarely, they can be restricted to the choroid plexus. We report here a rare case of sudden death in a child, caused by a ruptured vascular malformation with an unusual location, which was not identified grossly but only on histological examination. The size and the location of the lesion, as well as the age of our patient, were contributing factors of the massive bleeding. Autopsy remains an important tool because it provides valuable information about the etiology of such bleedings, improves knowledge about these lesions, and enhances epidemiologic data. PMID:24781402
Cioca, Andreea; Gheban, Dan; Perju-Dumbrava, Dan; Chiroban, Ovidiu; Mera, Mihaela
A number of species of anuran amphibians from different regions across North America have recently exhibited an increased occurrence of, predominantly, hind limb malformations. Research concerning factors potentially responsible for these malformations has focused extensively on ...
Diagnosis and management of extensive vascular malformations of the lower limb: part I. Clinical diagnosis.
There is significant confusion in the literature when describing vascular anomalies, and vascular malformations are often misnamed or incorrectly classified. Part I of this two-part series on the diagnosis and management of extensive vascular malformations of the lower limbs will discuss the dermatologist's role in the diagnosis of these lesions. At least nine types of vascular malformations with specific clinical and radiologic characteristics must be distinguished in the lower limbs: Klippel-Tr�naunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, Parkes Weber syndrome, Stewart-Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. This article highlights the differences in clinical appearance and discusses the differential diagnosis of extensive vascular malformations in an attempt to ensure earlier diagnosis and better outcomes for these patients. PMID:22000870
Redondo, Pedro; Aguado, Leyre; Mart�nez-Cuesta, Antonio
Prenatal diagnosis of congenital renal and urinary tract malformations
Congenital abnormalities of the kidneys and the urinary tract are the most common sonographically identified �malformations in the prenatal period. Obstructive uropathies account for the majority of cases. The aim of prenatal diagnosis and management is to detect those anomalies having impact on the prognosis of the affected child and �requiring early postnatal evaluation or treatment to minimize adverse outcomes. In this paper, we summarize the embryology of kidneys and urinary tract, the normal sonographic appearance through�out pregnancy and the prenatal diagnosis of their congenital malformations.
Hindryckx, A.; De Catte, L.
Dandy Walker malformation and hypertrophic cardiomyopathy. Unusual fatal association.
Dandy Walker malformation (DWM) is a rare congenital brain anomaly characterized by cystic dilation of the fourth ventricle and hypoplasia of the cerebellar vermis. Other extracranial anomalies can be associated, including cardiac defects. We report a rare patient with DWM associated with progressive heart failure secondary to hypertrophic cardiomyopathy. He was diagnosed at 2 months of age and died 5 months later. We conclude that hypertrophic cardiomyopathy can be associated with DWM with poor prognosis. A careful cardiac evaluation is needed in all infants with DWM for early recognition of such potentially serious associated cardiac malformations. PMID:21048653
Kurdi, Maher E; Chamsi-Pasha, Mohammed A; Baeesa, Saleh S; Jan, Mohammed M
Incorporating Amphibian Malformation into Inquiry-Based Learning
NSDL National Science Digital Library
Since the first discovery of malformed frogs by an adventurous middle school teacher and her after-school science club in 1995, outreach programs like A Thousand Friends of Frogs (see Resources) have been created to connect students and teachers with scientists so that they can better understand frogs and their habitats. Many of the amphibian-malformation activities published in education-practitioner journals approach this subject through internet investigations (Webster 2002), hypothetical case studies (Murphy and Fortner 2001), or reading with discussion (Davidson, Matthews, and Patrick 2001). These activities can be supplemented with inquiry-based labs designed to instruct and engage students about conservation biology, as described in this article.
Talley, Brooke L.
Uncommon cavernous malformation of the optic chiasm: a case report
Cavernous malformation (CM) is a vascular malformation disorder characterized by a berry-like mass of expanded blood vessels. CM, originating from the optic chiasm. usually leads to chiasma syndrome presenting with bitemporal hemianopsia. We report a 28-year-old male presenting with left homonymous hemianopsia. Magnetic resonance imaging (MRI) revealed an occupied lesion located in the right side of the optic chiasm, and a clinical diagnosis of chiasmal CM was made. Microsurgical excision was performed via anterolateral pterional craniotomy. The patient showed good recovery with slight improvement of the visual field deficits after the operation. No CM recurrence was discovered during the follow-up MRI scans.
Nuclear medicine dynamic investigations in the diagnosis of Budd-Chiari syndrome
AIM: To investigate the hepatic hemodynamics in the Budd-Chiari syndrome (BCS) using per-rectal portal scintigraphy (PRPS) and liver angioscintigraphy (LAS). METHODS: Fourteen consecutive patients with BCS were evaluated by PRPS between 2003 and 2012. Ten of them underwent LAS and liver scan (LS) with Tc-99m colloid. Eleven patients had clinical manifestations and three were asymptomatic, incidentally diagnosed at PRPS. The control group included 15 healthy subjects. We used new parameters at PRPS, the liver transit time of portal inflow and the blood circulation time between the right heart and liver. PRPS offered information on the hepatic areas missing venous outflow or portal inflow, length and extent of the lesions, open portosystemic shunts (PSS), involvement of the caudate lobe (CL) as an intrahepatic shunt and flow reversal in the splenic vein. LAS was useful in the differential diagnosis between the BCS and portal obstructions, highlighting the hepatic artery buffer response and reversed portal flow. LS offered complementary data, especially on the CL. RESULTS: We described three hemodynamic categories of the BCS with several subtypes and stages, based on the finding that perfusion changes depend on the initial number and succession in time of the hepatic veins (HVs) obstructions. Obstruction of one hepatic vein (HV) did not cause opening of PSS. The BCS debuted by common obstruction of two HVs had different hemodynamic aspects in acute and chronic stages after subsequent obstruction of the third HV. In chronic stages, obstruction of two HVs resulted in opening of PSS. The BCS, determined by thrombosis of the terminal part of the inferior vena cava, presented in the acute stage with open PSS with low speed flow. At least several weeks are required in the obstructions of two or three HVs for the spontaneous opening of dynamically efficient PSS. The CL seems to have only a transient important role of intrahepatic shunt in several types of the BCS. CONCLUSION: Dynamic nuclear medicine investigations assess the extent and length of hepatic venous obstructions, open collaterals, areas without portal inflow, hemodynamic function of the CL and reverse venous flow.
Dragoteanu, Mircea; Balea, Ioan-Adrian; Piglesan, Cecilia-Diana
[Cystic dilatation of the fourth ventricle--case report].
The patient, a 25-year-old male, was admitted with a 2-year history of double vision and recurrent suboccipital headache. Neurological findings on admission revealed nystagmus, double vision in the far field, bilateral abducense palsy, weakness in the bilateral legs, hypalgesia and hypesthesia under the L5 level, gait disturbance and hypotonia of the anal sphincter. Plain skull X-ray showed marked digital impression and disappearance of the posterior clinoid process and the dorsum sella. Myelography disclosed a filling defect dorsal to upper and midcervical cord. Intraventricular injection of metrizamide outline cystic dilatation and caudal migration of the fourth ventricle. Occipital craniectomy and laminectomy from C1 to C6 was performed. Operative findings showed thickened arachnoid membranes and cystic expansion of the fourth ventricle lying dorsal to the cervical cord. Caudal portion of the ventricle was removed, and V-P shunt was placed into the fourth ventricle to maintain decompression of the cystic part of the fourth ventricle. This patient is considered to represent a case of cystic dilatation (or ventricular diverticulum) of the fourth ventricle in Arnold-Chiari malformation. We stress that posterior decompression with V-P shunting procedure is recommended as the treatment of choice for such Arnold-Chiari type II malformation. PMID:1799525
Hida, K; Iwasaki, Y; Abe, H
Cardiovascular malformation in infant deaths. 10-year clinical and epidemiological study
The infant mortality from cardiovascular malformations in a region with a population of 2 million inhabitants during a 10-year period has been studied. The study involved validation of the diagnoses and judgement whether the cardiovascular malformation was the dominating or a contributing cause of death. It is shown that the incidence of fatal cardiovascular malformations is probably overestimated in the
E Esscher; M Micha�lsson; B Smedby
Arteriovenous malformation of the spermatic cord as the cause of acute scrotal pain: a case report
Arteriovenous malformations of the lower urinary tract are uncommon lesions, usually presenting as scrotal masses. A case of recurrent acute scrotal pain mimicking testicular torsion that was attributed to the presence of an arteriovenous malformation of the spermatic cord is described. To our knowledge this is the first reported case of an arteriovenous malformation of the spermatic cord presenting with
Petros Sountoulides; Athanasios Bantis; Irene Asouhidou; Hellen Aggelonidou
Notch-1 Signalling Is Activated in Brain Arteriovenous Malformations in Humans
ERIC Educational Resources Information Center
A role for the Notch signalling pathway in the formation of arteriovenous malformations during development has been suggested. However, whether Notch signalling is involved in brain arteriovenous malformations in humans remains unclear. Here, we performed immunohistochemistry on surgically resected brain arteriovenous malformations and found that,�
ZhuGe, Qichuan; Zhong, Ming; Zheng, WeiMing; Yang, Guo-Yuan; Mao, XiaoOu; Xie, Lin; Chen, Gourong; Chen, Yongmei; Lawton, Michael T.; Young, William L.; Greenberg, David A.; Jin, Kunlin
Hydrology and tree-distribution patterns of karst wetlands at Arnold Engineering Development Center, Tennessee
Flooding regimes, ground-water interactions, and tree distribution patterns were determined in seasonally flooded sinkhole wetlands at Arnold Engineering Development Center near Manchester, Tennessee. The wetlands are ecologically significant because they support coastal-plain plants and animals far from their typical ranges. Surface-water stage, ground-water levels, rainfall, and streamflow were monitored at or near five wetland sites. Sinking Pond, Willow Oak Swamp, and Westall Swamp are compound sinks with depths greater than 2.5 meters, visible internal drains, and complex bottom topography dominated by coalesced sinkholes and connecting channels. Tupelo Swamp and Goose Pond are karst pans with depths less than 1.5 meters, flat bottoms, and without visible internal drains. Stage rose and fell abruptly in the compound sinks. Maximum water depths ranged from 2.6 meters in Westall Swamp to 3.5 meters in Sinking Pond. Water levels in wells adjacent to Sinking Pond and Westall Swamp rose and fell abruptly, corresponding closely to surface-water stage throughout periods of high water. The two karst pans filled and drained more gradually, but remained flooded longer than the compound sinks. The maximum recorded water depths were 1.1 meters in Tupelo Swamp and 0.7 meter in Goose Pond. Water levels in nearby wells remained lower than the stage in the pans throughout the study period. Tree species were identified and the elevations and diameters of individual trees were measured along 10 transects. Two transects crossed Sinking Pond, two crossed Tupelo Swamp, and one crossed Willow Oak Swamp. The remaining five transects crossed intermittent drainageways that carry flow into or out of Sinking Pond. Transects through ponds had fewer trees but more basal area per unit area of land surface than did transects through channels. Water tupelo (Nyssa aquatica L.) dominated the interior of Tupelo Swamp and had minimal overlap in terms of elevation and flooding duration with other wetland trees that were confined to the pond's periphery. Overcup oak (Quercus lyrata Walt.) dominated the interior of Sinking Pond. Overlap between overcup oak and other wetland trees in terms of elevation and flooding frequency was minimal across the deeper Sinking Pond transect but was substantial across the shallow transect. Willow oak (Quercus phellos L.) dominated the interior of Willow Oak Swamp and had a relation to other wetland trees similar to that of overcup oak in the shallow Sinking Pond transect. Transects across broad swales had a relatively large degree of vertical zonation among wetland and upland tree species. Along transects through well defined channels, elevation distributions of wetland and some upland tree species were grouped near each other and near the distribution of land-surface elevations.
Wolfe, W. J.
Polymicrogyria: A common and heterogeneous malformation of cortical development.
Polymicrogyria (PMG) is one of the most common malformations of cortical development. It is characterized by overfolding of the cerebral cortex and abnormal cortical layering. It is a highly heterogeneous malformation with variable clinical and imaging features, pathological findings, and etiologies. It may occur as an isolated cortical malformation, or in association with other malformations within the brain or body as part of a multiple congenital anomaly syndrome. Polymicrogyria shows variable topographic patterns with the bilateral perisylvian pattern being most common. Schizencephaly is a subtype of PMG in which the overfolded cortex lines full-thickness clefts connecting the subarachnoid space with the cerebral ventricles. Both genetic and non-genetic causes of PMG have been identified. Non-genetic causes include congenital cytomegalovirus infection and in utero ischemia. Genetic causes include metabolic conditions such as peroxisomal disorders and the 22q11.2 and 1p36 continguous gene deletion syndromes. Mutations in over 30 genes have been found in association with PMG, especially mutations in the tubulin family of genes. Mutations in the (PI3K)-AKT pathway have been found in association PMG and megalencephaly. Despite recent genetic advances, the mechanisms by which polymicrogyric cortex forms and causes of the majority of cases remain unknown, making diagnostic and prenatal testing and genetic counseling challenging. This review summarizes the clinical, imaging, pathologic, and etiologic features of PMG, highlighting recent genetic advances. � 2014 Wiley Periodicals, Inc. PMID:24888723
Stutterd, Chloe A; Leventer, Richard J
Two-Staged Radiosurgical Treatment of Large Arteriovenous Malformations
When the size of an arteriovenous malformation (AVM) in any one direction is more than 4 cm, an attempt is made to treat it in two stages, separated by 6 months. The first stage treats one-half of the AVM and the remainder is treated in the second stage, thus giving rise to a higher prescription dose for each stage. Therefore,
Hideo D. Kubo; Richard B. Wilder; Conrad T. Pappas; John D. Earle; Robin L. Stern
C57BL/6N mice, used to model induction of cleft palate and kidney malformations in offspring following maternal treatment with TCDD, were dosed on gestation day (gd) 9 with ,2',4,4',5,5'-hexachloro-biphenyl (HCB) (62.5, 125, 250, 500. 1000 mg/kg) and/or gd 10 with 2,3,7,8-tetrach...
Axial skeletal malformations induced by acetazolamide in rabbits.
In order to evaluate the teratogenic potential of acetazolamide in rabbits, three groups of 18 artificially inseminated females were treated orally with 50, 100, or 150 mg/kg/day of acetazolamide on days 6-18 of gestation. These doses induced maternal acidosis and electrolyte changes, consistent with those reported in rats and considered to be a result of carbonic anhydrase inhibition, as well as reductions in maternal body weight gain. At cesarean sections, average fetal body weights in the acetazolamide groups were dose-dependently decreased compared with controls. There were no effects of acetazolamide on embryonic survival or external morphology of live fetuses. In the fetal skeletal examination, thoracic and lumbar vertebral malformations occurred in 0.7%, 3.9%, and 6.1% of fetuses in the 50, 100, and 150 mg/kg/day groups, respectively, compared with none in the control group. In addition, missing vertebra was seen in a small number of fetuses in the 100 and 150 mg/kg/day groups. These axial skeletal malformations were, in some cases, associated with costal malformations. These results indicate that acetazolamide at maternotoxic doses can produce axial skeletal malformations in the rabbit. PMID:1412055
Nakatsuka, T; Komatsu, T; Fujii, T