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A 6-month-old boy was referred to our tertiary pulmonary service because of unexplained persistent respiratory distress and failure to thrive since birth. He was delivered at 36 weeks of pregnancy, with a symmetrical intrauterine growth retardation (IUGR). Otherwise, the pregnancy was uneventful, and he was admitted to the neonatal intensive care unit for 5 days because of unexplained tachypnea and respiratory distress, which improved during the neonatal period but never completely resolved. He is the first baby born to a young couple who were not consanguineous but were from the same tribe.\nPresenting with shortness of breath, persistent cough and intermittent fever, our patient was treated in different district hospitals as a case of bronchiolitis, pneumonia, recurrent wheezing and possible asthma. He received multiple courses of antibiotics, nebulized bronchodilators and inhaled steroids with no response. Also, he was diagnosed with gastroesophageal reflux disease (GERD) based on a barium meal findings associated with shortness of breath and cough after feeding. However, he did not show an improvement following anti-reflux management and nasogastric feeding. Despite an optimum nutritional management with a high protein and calorie formula, he continued to have failure to thrive.\nUpon arrival to our center at the age of 6 months, he had persistent respiratory distress in form of tachypnea, intercostal and subcostal recession together with an oxygen saturation of 78% in room air. His breath sounds were decreased on both sides with no additional sounds. He had no dysmorphic features and his head circumference, weight and height were all below the third centile. The rest of his clinical examination revealed an enlarged liver with a span of 10 cm and axial hypotonia with preserved reflexes.\nIn an effort to unravel the underlying diagnosis of this patient, comprehensive investigations were planned by a multidisciplinary team from different pediatric subspecialties. The metabolic work up showed recurrent hypoglycemia; however, critical samples were normal. Therefore, hypoglycemia was attributed to his nutritional status. The endocrine work up revealed primary hypothyroidism with moderately elevated thyroid stimulating hormone and low thyroxine. His thyroid function normalized on thyroxine replacement therapy. An extensive hematology work-up revealed nutritional anemia and unexplained thrombocytopenia. Immunology investigations showed intact immunity with normal immunoglobulin and lymphocyte function. He had low albumin levels, but other liver function tests were normal and the urine examination showed no albuminuria. Thus, the low albumin was attributed to the nutritional status of the patient. He underwent extensive pulmonary investigations. His arterial blood gas was initially normal but later showed respiratory acidosis indicating emerging respiratory failure. His chest x-ray () showed diffuse alveolar disease, and his chest CT scan () showed bilateral basal infiltration and atelectasis with a positive Hounsfield unit rolling out intraparenchymal fat.\nBronchoscopy () showed a tracheal bronchus with otherwise normal structures. Bronchoalveolar lavage fluid samples were milky in color, and the cytology was negative for periodic acid-Schiff stain but positive for lipid-laden macrophages. The lavage cell count was high, 8442 C/L, with a neutrophilic predominance, and the cultures were negative. Despite the negative PAS, the bronchopulmonary lavage profile was suggestive of PAP.\nThe family denied any history of feeding the patient high fat diet, nevertheless he was maintained on medium chain triglyceride (MCT) formula during his hospital stay prior to presentation.\nDespite intensive care support with conventional and high frequency ventilation, the clinical condition of the patient deteriorated, and he died due to respiratory failure. He was not stable for interventional therapeutic lavage.\nDeoxyribonucleic acid (DNA) was extracted from the patient and his parents. Whole exome sequencing was performed using Illumina HiSeq (Illumina Inc., CA, USA).\nWhole exome sequencing revealed a novel homozygous variant of the MARS gene, c.854T>C p.(Ile285Thr). This variant was predicted to be damaging by PolyPhen, deleterious by Sift, and disease-causing by MutationTaster. The allele frequency was 0.000037 in ExAc and 0.00020 in 1000G. This variant segregated with the family as both parents were found to be heterozygous. |
A 40-year-old man presented to the emergency department with sudden onset dyspnoea and severe chest pain radiating to his back. He also reports a year history of intermittent haemoptysis. On presentation, the patient’s observations were stable. The patient was born and raised in Tibet, and reported having previously been treated for confirmed tuberculosis.\nOn presentation, chest X-ray illustrated a prominent proximal descending thoracic aorta contour and a completely collapsed left lung (). On computed tomography angiogram (CTA), the patient was found to have a large saccular aneurysm measuring 5.0 × 5.0 × 5.0 cm in size, arising from a focal location of the proximal descending thoracic aorta distal to the origin of the left subclavian artery with evidence of contained rupture (). The mass was found to be causing significant external compression of the left main bronchus leading to significant effacement of the left main primary bronchi leading to extensive collapse in both left upper and lower lobes and overall reduction in volume of the left hemithorax ().\nAfter review by both the vascular and cardiothoracic surgeons, a decision was made to proceed to an open repair. A thoracic stent graft was considered, however this procedure would not relieve the patient’s bronchial compression. An open repair would exclude the thoracic aneurysm and also relieve compression from the bronchus. Without ventilation of the left lung, an extended posterolateral thoracotomy was performed to allow pleural entry via the fifth intercostal space. The distal aortic arch was encroached and the saccular aneurysmal portion at the inferior aspect at the distal inner curvature appreciated. The patient was placed on Cardiopulmonary Bypass (CPB), via the Common Femoral Artery and Common Femoral Vein, and the patient was cooled to 20°C. Peri-aortic tissue was dissected free of the target site; the recurrent laryngeal nerve was not observed however suspected medial to the dissection area. The saccular aneurysm was opened and old clot was evacuated and the area dissected to its neck at the inferior arch. Nil communication with the bronchus was evident. Remaining aorta appeared relatively normal. The edges of the aneurysm neck were fashioned towards health aorta and the resulting defect closed primarily with a single layer of bilaterally buttressed (bovine pericardial strips). CPB was recommenced to allow de-airing via the then closed anastomosis; with full CPB flow rewarming was begun. Sinus rhythm reverted spontaneously at 32°C; at normothermia the CPB wean was commenced, well tolerated and completed at the patient decannulated and protamine administered. Pleural packing was perused to allow haemostasis which was eventually achieved. Left lung recruitment achieve eventual satisfactory re-expansion. Drains were placed as the ribs re-approximated with double figure 8.\nPost-operatively, the patient experienced intermittent episodes of desaturation secondary to mucous plugging. The patient required regular chest physiotherapy, high flow nasal prongs for humidification with intermittent bi-level positive airway pressure. He also developed a hospital-acquired pneumonia which was subsequently treated with a course of intravenous tazocin.\nRepeat CTA illustrated good flow through the thoracic aneurysm, re expansion of the left lung, and decompression of the left main bronchus. Histopathology of washing and fine needle aspirates was all negative for tuberculosis and bacteria. Histopathology revealed fibroid and necrotic material with mixed acute and chronic inflammatory changes, fragments of benign bronchial epithelium and ulceration and squamous metaplasia; no granulomas were present. Further, nil malignancy was detected. |
A 10-year-old boy reported to private dental clinic due to missing upper front teeth following self-fall (). The time lapsed following the trauma was 4 days. Dental examination revealed clinically missing 21 and 22. 11 was extruded, palatally displaced and mobile. The avulsed permanent teeth (21 and 22) were stored in dry condition for 4 days and were brought to the hospital in a match box (). Clinical and radiographic maxillofacial examination revealed that there was no fracture of the maxilla, mandible or other facial bones. However, the radiograph confirmed the diagnosis done during the clinical examination. He had no other injuries and his medical records were uneventful. Poor prognosis was expected if the avulsed teeth were reimplanted, since there was prolonged extra oral dry storage time and conditions in which the teeth were stored was also not favorable. Considering the above factors decision was made not to reimplant the avulsed teeth. The treatment plan was to reposition the extruded 11 followed by splinting for stabilization. However, conventional splinting was not favorable in this case as 21 and 22 were avulsed. Hence a modified splint was planned. After administration of local anesthesia, the extruded 11 was repositioned using axial finger pressure on the incisal edge of the tooth (). Splinting was done with acrylic anterior teeth placed in the region of the missing 21 and 22 (). Glass ionomer cement bite plane was given on 36 and 46 to relieve occlusion. Patient was advised to consume soft diet and was instructed to maintain meticulous oral hygiene. This splint served the purpose of esthetics as well could help in the stabilization of the extruded 11. Post-operative phase () was uneventful with subsequent reduction in the pocket depth both labially and lingually indicating successful reattachment of periodontal ligament fibers. After 3 weeks radiographs were repeated to evaluate the pulpal and periodontal status. There was neither any periapical radiolucency nor any marginal breakdown. This was followed by removal of the splint. The missing teeth were later replaced by removable partial denture which will be continued till it can be replaced by fixed prosthesis. |
A 40-year-old female patient presented at the Emergency Department of our institution with complaints of back pain for the last three days that started after moderate physical exertion. The patient referred no pain relief after taking anti-inflammatory drugs and denied respiratory symptoms such as chest pain, dyspnea, or cough. No weight loss, anorexia, or other symptoms were reported. There was no referral of previous surgeries or medications. A different, stronger anti-inflammatory drug was prescribed, but three days later she returned to the hospital, where a lumbar radiograph revealed the presence of a lytic lesion in the L4 vertebra. Due to the nonspecific appearance of the lesion, the patient underwent an MR of the lumbar spine. The exam revealed the presence of a heterogeneous, T1-hypointense mass in the body of L4, causing its partial destruction, and nerve root compression (). A CT-guided biopsy was performed in order to assess the etiology of this mass. The pathology report described the presence of tumor fragments of mesenchymal origin with smooth muscle differentiation that were diffusely positive for estrogen and progesterone receptors. No obvious nuclear atypia or mitotic figures were identified. Ki-67 proliferation index was less than 1%. The final report stated that the lesion was compatible with BML.\nSubsequently, a contrast-enhanced CT was performed to evaluate if other organs were affected: there were several soft tissue density round masses in the thorax, the largest being located in the left lung, measuring 44 mm (). There was a 12 cm mass in the left iliac crest that enhanced after intravenous contrast. This mass had a lytic component and exhibited an intrapelvic bulky element (). There was enlargement of the uterus due to the presence of several leiomyomas ().\nThe clinical conduct included vertebral subtotal tumor removal, laminectomy, and pedicle screw fixation on L3-L5 () to decompress the nerve roots and reduce the symptoms. Oophorectomy and hysterectomy were performed and confirmed the benignity of the leiomyomas. Outpatient treatment consisting of anastrozole, an aromatase inhibitor, was prescribed. At the 6-month follow-up CT examination, the nodular pulmonary and iliac crest masses kept the previous dimensions and no new lesions were observed. Long-term follow-up was recommended in this case.\nRegarding the low back pain, the patient referred a moderate improvement. Despite this, she needed to resort frequently to taking anti-inflammatory drugs after some physical exertion. The patient also reported a sensation of pressure in the pelvic region, especially in the lateral decubitus, most likely associated with the mass of the iliac bone. |
A 35-year-old African American man with a past medical history of sickle cell disease presented to our hospital by transfer from an outside hospital. Clinicians at the outside hospital originally saw him when he had a 2-day history of fever with a maximum temperature of 103 °F. The patient also complained of worsening headache, neck pain, and shortness of breath. He was admitted for suspicion of sepsis. During the evaluation process, the clinical condition of the patient worsened with increasing shortness of breath, intensifying headaches, and increasing neck pain. The patient received a lumbar puncture, the results of which were indicative of meningitis. The patient underwent magnetic resonance imaging, which revealed a possible Arnold-Chiari type I malformation and a cervical cord syrinx with associated myelitis. The patient was transferred to our hospital, and, upon arrival, he was paralyzed from approximately the level of C4 to the feet.\nThe patient has a history of sickle cell disease, pulmonary hypertension, and right ventricular enlargement, likely secondary to the sickle cell disease. He previously had a transthoracic echocardiogram that did not show any intracardiac shunting but did show a left ventricular ejection fraction of 50–55 %. He was taking a beta-blocker and an angiotensin-converting enzyme inhibitor for blood pressure control. He did not have any other significant history. On arrival to our hospital, the patient appeared toxic and in severe distress. The patient had moderately altered mental status but was able to follow conversation. He complained of worsening diplopia and decreasing vision from his right eye. His physical examination was significant for abnormal sensation below the level of C4 and decreased motor strength in all four extremities.\nThe patient was found to have elevated blood urea nitrogen and creatinine levels, which increased from 0.9 to 4.0 mg/dL over a couple of days, likely due to acute kidney failure. The patient also had a decreased potassium level of 2.9. The patient was found to be anemic, with a hemoglobin of 6.1 g/dL, likely due to his underlying sickle cell anemia, and received a transfusion of 3 units of packed red blood cells. The patient had an elevated white blood cell count of 30.0 x 103/µL. Arterial blood gas analysis revealed a pH of 7.23, partial pressure of oxygen of 115 mm Hg, bicarbonate level of 16.8 mEq/L, and base excess of −9.5 mEq/liter.\nThe patient’s single-view chest x-ray showed bilateral lung interstitial edema, left lung pulmonary parenchymal opacity, and left pleural effusion. A magnetic resonance imaging study of the cervical spine showed fluid collection from C2 through C5 that was indicative of an intramedullary cord abscess, with edema extending to the level of C7 (Fig. ). Magnetic resonance imaging studies of the thoracic and lumbar spine were unremarkable. A magnetic resonance imaging study of the brain showed right frontal lobe subacute infarcts, most likely within the right anterior cerebral artery territory, likely due to the underlying condition of sickle cell disease, and mild caudal herniation of the cerebellar tonsils was observed. A computed tomographic study of the thorax showed bilateral lower lobe areas of atelectasis or consolidation, suggestive of pneumonia.\nUpon the patient’s arrival at our hospital, the concern was for worsening mentation, weakness, and sepsis, secondary to Streptococcus meningitis with an intramedullary abscess from C2 through C5. The patient was placed on high-dose intravenous steroids to reduce spinal cord swelling. He was placed on azithromycin, ceftriaxone, and vancomycin for broad antibiotic coverage. Concerns for pneumonia versus influenza arose because of findings in the chest x-ray obtained upon admission, and the patient was placed on oseltamivir. An arterial line, a minimally invasive hemodynamic monitor, a central venous catheter, an endotracheal tube, and a mixed venous oxygen saturation monitor were placed. Daily procalcitonin and C-reactive protein levels were obtained to monitor for treatment response. Blood and cerebrospinal fluid cultures were obtained. The patient was placed on a bicarbonate drip for metabolic acidosis but continued to have declining renal function. The patient was subsequently placed on continuous renal replacement therapy.\nTwo days after admission, the patient underwent surgery to treat his Arnold-Chiari type I malformation and drain his intramedullary abscess. During treatment, he underwent posterior cervical laminectomy from C2 to C6-C7, myelotomy with microscope and CO2, drainage of the intramedullary abscess, duraplasty of the Arnold-Chiari type I malformation and cervical cord, drain placement, and intraoperative somatosensory evoked potentials and free-run electromyography. A midline incision was made from the spinous process of C1-C2 down to C7. The lamina from C2 to C7 was then subsequently removed. The dura was opened, and the exposed cord was observed to be extremely vascularized, with the cerebrospinal fluid appearing infected. A midline myelotomy was performed from C4 to C6, opening the syrinx, and the purulent material was evacuated with significant irrigation. Then the dura and the dural canals were closed, and a drain was placed.\nThe patient was placed on cervical spine precautions. His blood cultures that were obtained from the outside hospital were found to have Streptococcus pneumoniae that was sensitive for ceftriaxone, which was empirically continued for a total duration of 1 month. Cultures from the syrinx and blood cultures obtained on admission did not have any growth. The patient was continued on intravenous antibiotics and steroids. He started to have improving mental status, sensation, and motor function. He underwent postoperative magnetic resonance imaging of the cervical spine 1 day after surgery, and the scans showed postsurgical drainage of the syrinx and laminectomy of C2-C6. Another magnetic resonance imaging study, obtained on postoperative day 8 (Fig. ), showed slight improvement from the first postoperative study. The patient was extubated on postoperative day 5. At the end of his hospital stay, the patient did not have any signs or symptoms suggestive of sepsis. He had a decline in his white blood cell count as well as his procalcitonin level. He continued to experience decreased neurological function, with no sensation below the level of L2 and paresis of the bilateral lower extremities and left upper extremity. He had a nearly complete recovery of renal function after a trial of continuous renal replacement therapy. He was discharged to an inpatient spinal cord injury rehabilitation facility on postoperative day 12. |
A 46-year-old female presented in 2017 with symptomatic right leg pain and aesthetic complaints relating to the right calf. Medical history showed a previous head trauma (car accident) with brain hematoma drainage and a saphenous vein operation. Physical examination revealed edema in the perimalleolar area and painful varicose veins, in the right calf (with considerable aesthetic impact) and left calf (with minor aesthetic impact). Venous scores at the first visit to our clinic were the following: Venous clinical severity score VCSS 10 and Aberdeen quality of life questionnaire 27.7.\nDuplex examination conducted before the original venous operation (which had been performed in a different clinic in January 2016) had shown reflux in the left great saphenous vein and significant reflux in the right small saphenous vein. However, the operation actually performed was stripping of the right great saphenous vein. Both the left great saphenous vein and the right small saphenous veins were left in place untreated. After this procedure, symptoms had exacerbated progressively, and the aesthetics of the leg had deteriorated progressively.\nPreoperative evaluation was normal. We performed a complete duplex scan, according to our routine, as published elsewhere. The patient had type 1b+2a shunt in the right leg and 4+2d shunt in the left leg. We suggested operating to treat the small saphenous vein in the right leg and the great saphenous vein in the left leg. We treated the patient using the CHIVA technique to preserve the remaining saphenous veins.\nWe performed the CHIVA procedure on both legs during the same operation. Local anesthesia was provided with a solution containing 10 mg/mL 20 mL of ropivacaine and 2% lidocaine, using 20 mL and 60 mL of saline. We routinely have an anesthetist in the operating room to guarantee patient safety and comfort, who is always advised to avoid sedation as much as possible. When necessary, an opioid-free sedation technique is employed. In the right leg, we ligated the small saphenous vein at its junction with a calf vein and ligated two N3 collaterals, leaving the small saphenous vein draining through two perforators. In the left leg, we ligated a collateral draining to the great saphenous vein from the inguinal ligament and an N3 draining reflux from the great saphenous vein to the calf. A total of 5 small incisions were made. The patient was discharged two hours after the operation wearing compressive stockings and taking 40 mg enoxaparin per day for 3 days, according to our postoperative routine.\nOn the sixth postoperative day, duplex scanning was performed, showing minor continuous reflux in the small saphenous vein of the right leg and even less reflux in the great saphenous vein on the left. The right small saphenous vein had been 7.4 mm before the operation and was 3.8 mm after. The left great saphenous vein had been 4 mm before the operation and had not decreased in size during the initial postoperative period. The patient scored pain at 3 on a 0-10 pain scale and had taken one 750 mg paracetamol tablet during the entire postoperative period. We made a full photographic record before and after the operation ( \n ). There were no photographs or records of symptoms available from the original operation.\nIn relation to the wrong-site surgery, we comforted the patient and reported the case to both the previous surgeon and the patient safety surveillance team at the hospital where the operation had been performed. |
A 64-year-old female presented to the emergency department secondary to shortness of breath, cough, and associated fever. She had a past history of chronic obstructive pulmonary disease, left upper lobe cavitary lung lesion, and microcytic anemia. The patient was on daily oral steroids for the last several years due to poorly controlled COPD and had recently been released from the hospital two weeks before for a left lower lobe pneumonia. At the time of her prior admission, she was started on vancomycin and aztreonam for her pneumonia and was ultimately discharged on levofloxacin for ten days.\nDuring her emergency department course, her chest radiograph revealed a worsening left lower lobe infiltrate which was later confirmed on computed tomography of the chest. The patient had worsening hypoxia during her course and was eventually placed on BIPAP therapy, and she was started on intravenous vancomycin, levofloxacin, and fluconazole for a presumed hospital-acquired or fungal pneumonia given her recent hospital admission and cavitary lung lesion. Prior to admission, she had no physical exam findings to suggest a fungal infection. She was admitted to the hospitalist service for further evaluation and management.\nWhile hospitalized, the patient continued antibiotic and antifungal therapy, and on day two, aztreonam was added due to a worsening clinical picture. The following day, the patient underwent consultations from infectious disease, pulmonology, and cardiothoracic surgery due to her worsening clinical status and pneumonia with associated cavitary lung lesion. Following consultations, the patient underwent a fiberoptic flexible bronchoscopy with bronchoalveolar lavage which showed a large mucous plug obstructing the left main bronchus but no associated lesions. Cultures from the bronchoalveolar lavage eventually grew Nonomuraea solani, Candida glabrata, and Candida dubliniensis.\nFollowing a protracted hospital course of nine days, the patient was discharged home with cefpodoxime 400 mg twice a day for ten more days and was instructed to follow up with infectious disease within the next two weeks. However, the patient eventually presented to the emergency department one month later with a left-sided empyema status after wedge resection of the cavitary lesion that grew Corynebacterium amycolatum and Staphylococcus hominis spp. on cultures. |
A 9-year-old boy was detected to have a retrocardiac mass lesion on the left side, which was detected incidentally on a chest X-ray done for fever. The child had no history of stridor, dysphagia, hemoptysis, or chest pain. His examination revealed no abnormalities, and the laboratory work up was within normal limits at the time of presentation.\nComputed tomography (CT) scan of the chest [] revealed a well-circumscribed unilocular and homogenous cyst in the left chest measuring approximately 4.6 cm × 3.4 cm directly adjacent to the esophagus just above the hiatus. No air fluid level or mediastinal adenopathy. An upper gastrointestinal endoscopy was normal. With these findings, the diagnosis of either an esophageal duplication cyst or bronchogenic cyst was kept in mind. A robotic assisted thoracoscopic approach was utilized to remove the lesion.\nGeneral anesthesia with 26 Fr left sided double lumen endobronchial tube was used. We prefer the placement of a double lumen endobrochial tube wherever feasible. A uninvent tube with a bronchial blocker may be used as an alternative. However, it results in a slow collapse of the lung. Only as a last resort a normal endotracheal tube may be inserted into the right bronchus to achieve a left sided collapse. However, it sometimes leads to ineffective right upper lobe ventilation due to blockade of right upper lobe bronchus and may lead to hypoxia during the surgery. We do not routinely advocate the use of central line and arterial line for intraoperative monitoring.\nThe patient was placed in a semi-prone position with left side up. Three ports were placed triangulating toward the target anatomy. One 12 mm port was used for the robotic camera and two 8 mm ports were used for robotic arm one and two. A 5 mm port was placed between the camera and arm two, to be used as an assistant port. The cyst was seen in the retrocardiac area overlying the posterior pericardium with its medial aspect applied closely to esophagus for a short segment. The left lower lobe was moderately adherent to the cyst and was freed using bipolar cautery []. All around mobilization was done and a complete excision of the cyst was achieved. The ports were closed with a single chest tube. The overall operating time was 120 min with actual console time of 60 min. The chest tube was removed on postoperative day 1. And the patient discharged the following day. He was seen at follow-up 2 weeks and then 3 months after surgery which revealed a normal chest X-ray with no symptoms. Final pathology revealed a bronchogenic cyst without signs of malignant degeneration or infection. |
A 57-year-old man, who fell off of a bicycle and bruised the back of his head, became comatose immediately after the accident and was transported to a medical emergency center. He had a score of 7 on the GCS at the time of ambulance transport. CT of the head revealed hemorrhagic cerebellar contusion in the left hemisphere, fractures of the left occipital condyle, and C1 dislocation. Brain herniation occurred due to cerebral edema associated with the hemorrhagic contusion of the left cerebellar hemisphere, which was a medical emergency (). Physicians at the medical emergency center performed lifesaving left suboccipital craniotomy and removed the hematoma and a part of the cerebellar hemisphere damaged by the contusion. Two weeks after surgery, the physicians intended to perform extubation due to the patient's improved of consciousness, since airway narrowing caused by left-sided vocal cord paralysis was observed, tracheostomy was additionally performed. At that time, neurological findings revealed lower cranial nerve (CN-IX to -XII) palsy. The patient was referred to our hospital for OCF and C1 dislocation treatment. On admission, he had clear consciousness but required bed rest in the supine position because of prominent neck pain that occurred when he was in the seated position. Although he complained of muscle weakness, which resulted from the prolonged bed rest, no obvious motor paralysis of the four extremities or sensory impairment was observed; however, he experienced left trapezius weakness, as well as paralysis of the larynx and the left side of the throat, which were associated with lower cranial nerve (CN-IX to -XII) palsy.\nCT revealed OCFs associated with C1 dislocation. A fracture extended to the left jugular foramen and hypoglossal canal. The left and medial sides of the occipital bone were defective because of the left suboccipital craniotomy (). The left vertebral artery, which normally runs through the vertebrae proceeding away from the C1 vertebra, was not revealed by CT angiography, indicating traumatic vertebral artery occlusion.\nWe found that the neck pain was largely due to craniovertebral junction instability because halo vest immobilization (HVI) relieved the pain. We adjusted the craniovertebral angles in a halo vest and optimized them to prevent airway narrowing and swallowing disturbance. We made sure that HVI did not interfere with everyday activities for the patient after the halo vest had been in place and positioned at this angle for several days.\nThe patient was positioned prone in a halo ring after induction of general anesthesia. At the time of prone positioning, under lateral fluoroscopic guidance, we set the craniovertebral angles that had been optimized prior to surgery. We incised the skin along the marked median nuchal line from the external occipital protuberance to immediately above the seventh cervical (C7) spinous process and detached the posterior muscle group. A resin-made occipital bone was formed in accordance with the defective part of the occipital bone. Just before curing, the occipital bone plate and screws to be used for posterior fusion of the craniovertebral junction were also embedded together in resin. The resin-made occipital bone was placed in the defect's position and anchored with a titanium plate. We performed left-sided occipital cervical fusion by connecting vertebral arch pedicle screws with the occipital bone plate that had been secured to the resin-made occipital bone. On the right side, this occipital bone plate was immobilized with screws of C2 and C3 lateral mass at the remaining area of occipital bone. We harvested the iliac crest bone and grafted it onto the tip of the decorticalized spinous process of the C2 vertebra and the dorsal part of the occipital bone. The spongy bone was used in order to avoid creating dead space. The grafted bone was fixed by an ultrahigh molecular weight polyethylene cable ().\nThe patient underwent rehabilitation in the halo vest for 3 months after surgery. Initially, he required tube feeding but later could ingest food orally because of physical therapy and dysarthria therapy offered by a speech therapist, as well as of swallowing and breathing training. He had mild paralysis of the left side of his throat and larynx, but sealing the tracheostomy site was possible. He walked independently and left the hospital following 5 months of rehabilitation after surgery. One year later, he returned to work as a school principal. Outpatient follow-up continued for 5 years postoperatively, but there were no newly developed complications. We observed trapezius weakness associated with left spinal accessory nerve palsy but did not detect symptoms of other lower cranial nerve palsies. X-ray and CT examination showed good bone graft incorporation, and no displacement of the resin-made occipital bone was observed (). |
A 71-year-old male was referred to sarcoma clinic on 11/9/2017 with a painless swelling in his right forearm. He had a previous history of primary retro-peritoneal leiomyosarcoma surgery in 2011 with subsequent liver and lung metastases for which he underwent surgical resection in January 2017. His other past medical history included benign prostatic hypertrophy (controlled with medication), otherwise he was fully mobile, fit and well. This right-hand dominant male described a gradual 3-month history of increasing painless swelling to the volar aspect of the right forearm with full function of the arm and no neurological deficit. On clinical examination, there was a soft 5 × 4 cm swelling, 5 cm proximal to wrist crease in the volar compartment of the right forearm. The swelling was fixed, non-tender with no distal neurovascular deficit and or regional lymphadenopathy. Magnetic resonance imaging (MRI) of the right forearm demonstrated a 45 × 33 × 19 mm mass in the volar aspect in close relation to the median nerve (Fig. ). Ultrasound-guided needle core biopsy was consistent with LMS and the histology was similar to the previous LMS suggesting the possibility of metastatic LMS. Staging studies did not show any other metastatic deposits. Following multidisciplinary team discussion, he underwent planned marginal excision of the metastatic sarcoma with preservation of the median nerve. Histology confirmed LMS composed of spindle cells with eosinophilic cytoplasm with mild pleomorphism confined within the perimysium with no necrosis or vascular invasion (trojani grade 1). The patient recovered well post operatively with no neurological deficit only complicated with a mild episode of cellulitis to the wound site which fully resolved with a short course of oral antibiotics. One year after surgery, the patient has full function and use of his right hand and there is no evidence of LMS recurrence or further metastatic spread both clinically and radiologically on recent CT scan of his chest, abdomen and pelvis and MRI scan of the forearm (Fig. ). |
We present the case of a 32-year-old female patient who was consulted due to severe pain in the first metatarsal of the right foot after previous surgery for hallux valgus using the scarf technique, fixed with two 3 mm cannulated screws.\nClinical examination revealed a cavus valgus foot with persistent edema and erythema evolved over 2 years. The shortening of the first radius in the operated foot with respect to the contralateral foot was significant, as was a hypertrophic and sensitive scar ().\nFinally, the radiological examination showed a complete transverse fracture with a dorsal free fragment coinciding with the proximal screw of what appeared to be a scarf Z-osteotomy. After the fracture, severe shortening of the first radius, medial displacement of the distal fragment of the metatarsal, and rotation associated with plantar flexion were observed ( and ).\nThe patient’s medical examination revealed no systemic, cardiac, neurological, or rheumatological diseases.\nThe patient received a spinal block with 0.75% bupivacaine. A tourniquet was placed 10 cm below the fibular head with a pressure of 250 mm Hg.\nFirst, an oblique incision was made in the lateral side of the calcaneus for extraction of a 2 × 2 cm bone graft in accordance with a technique described by Mahan [].\nSecond, a double semi-elliptical incision was made over the previous scar, from the medial area of the first cuneometatarsal joint to the base of the proximal phalanx of the first toe, for the approach to and exposure of the first radius. This was to ensure that the old, sensitive, painful scar was eliminated and to create a new, more physiological scar.\nThe old and failed osteosynthesis material was removed. The calcaneal bone graft was placed in the nonunion area. At this time, the physiological position of the first metatarsal was sought by means of an evaluation in the three planes and by simulating the load. We consider this to be the most important surgical step, since the proper functionality of the first radius in the long term depended on this action.\nIt is important to highlight that the graft was carved manually with an oscillating saw prior to the operation, creating a medial and plantar base wedge that would help to correct the pathological position of the first metatarsal once it was in place.\nThe fragments were then fixed by placing a low-profile T-06 Arthrex osteosynthesis plate set with six locking screws. This was reinforced with the implantation of two interfragmentary screws placed obliquely.\nThen 2/0 synthetic absorbable suture was used to close the joint capsule in the first radius, 3/0 synthetic absorbable suture to close the deep fascia in the first radius and calcaneal graft extraction area, and Biosyn 4/0 to close the skin with continuous suture.\nThe patient remained immobilized for 8 weeks and then began partial weight-bearing with the aid of a walker boot for a further 4 weeks.\nAfter 12 weeks, the patient had no pain or limitations and began to wear physiological footwear. At 6 months, she began to practice running, and the metatarsal adequately accepted the ground reaction force. The patient is currently preparing for physical tests for entry into the Spanish Army.\nAt 14 months post-surgery, we performed a small surgical intervention to remove the two interfragmentary screws, which were causing skin irritation.\nThe post-surgical radiological images show good positioning of the first radius in the different planes, an increase in length achieved with the graft, and the two fixation systems used to provide greater stability to the bone fragments. Additionally visible is the bone defect at the level of the lateral aspect of the calcaneus after removal of the autogenous graft. This will be filled with new bone over the next few months until a calcaneus with normal morphology is achieved.\nAnteroposterior and lateral control radiographs were taken at 6, 12, 18, and 24 months. This radiological study shows the consolidation and position of the first radius as well as the remodeling process that occurs in the calcaneus after autograft removal ( and ). |
A 51-year-old man was referred to our hospital with a chief complaint of swelling in the anterior portion of the right maxillary region on March 2010. There was no notable medical history. Orthopantomograph and computed tomography (CT) scan findings revealed a periapical cystic lesion associated with the maxillary right central incisor (Figure ), after which we made a diagnosis of a periapical cyst in the maxillary central incisor. The cyst and right central incisor were extracted under general anesthesia in May, and histological findings led to a diagnosis of radicular cyst.\nFollowing surgery, aesthetic complications developed (Figure ), which CT scan images obtained 4 months after the cystectomy showed the cause to be severe horizontal alveolar bone atrophy (Figure ). We planned to perform autogenous onlay bone grafting to restore bone volume in the alveolar ridge. It was determined that a horizontal bone volume of at least 7 mm was needed for aesthetic recovery and the width of a cortical bone block alone would be unsatisfactory to obtain an adequate alveolar ridge horizontal thickness. Therefore, we decided to use IP-CHA to fill the gap between the autogenous block bone and recipient bone, along with bioresorbable PLLA-PGA screws to fix the bone block at the recipient site.\nIn October 2010, we operated on the patient under sedation and local anesthesia. To create the recipient site, a crestal incision and 2 vertical releasing incisions were made, after which a flap was raised. Next, an incision was made medial to the external oblique ridge in an anterior direction and terminated in the first molar area. Following soft tissue flap elevation, a block of bone (10 × 15 mm) was harvested for use as onlay grafting from the anterior border of the right mandibular ramus using a small round bar and fissure bur, with the sharp edges rounded off with a round bur. Gaps around the block graft were filled with a granular-type of IP-CHA (1.0-0.5 mm) (NEOBONE®, MMT, Osaka, JAPAN) and the block bone was fixed to the recipient site using resorbable screws (2 × 13 mm) (Lactosorb®, Walter Lorenz Surgical Inc., Jacksonville, FL, USA) (Figure ). Once the graft was adapted to the site, an incision through the periosteum at the base of the flap allowed the tissue to cover the graft without tension. The recipient and donor site areas were then sutured.\nAn orthopantomograph obtained at 3 months after the operation showed an increase in radiopacity, indicating new bone formation in the lesion implanted with IP-CHA (Figure ). Next, resin faced bridges were set at 9 months after the operation (Figure ). CT scanning at 15 months after bone augmentation showed no abnormal resorption of the grafted bone (Figure ), while at 34 months no signs of inflammation were observed in the grafted bone or IP-CHA fixed with the PLLA-PGA screws. The patient was satisfied with both the functional and aesthetic outcomes.\nTitanium screws are often used to successfully achieve rigid fixation in cases with autogenous bone grafting. However, they have several potential disadvantages, such as requirement for an incision with additional soft-tissue stripping needed for removal, risk of fracture of the screws when removing, radiographic artifacts, allergic reactions, discomfort in oral mucosa, and possible restricted growth of the craniofacial skeleton in pediatric patients. As an alternative, bioresorbable fixation devices for oral and maxillofacial surgery have been well documented [-].\nResearch of bioresorbable materials has been undertaken since the early 1970s [], with various homopolymer agents investigated including polylactic acid (PLA), polyglycolic acid (PGA), polydioxanone, and PLA and PGA copolymers [-]. More recently, resorbable fixation materials composed of blends of PLLA and PGA with little or no crystallinity have been reported. Such lack of crystallinity is an important factor that may allow polymer combination materials to be more easily degraded and metabolically eliminated through natural body processes, without causing inflammation or foreign body reactions []. In a previous study, PLLA-PGA fixation devices were completely resorbed in maxillary and mandibular bone sites without osteolysis from 18 to 24 months after surgery []. Such resorbable fixation materials offer many advantages for osteosynthesis over titanium screws in oral maxillofacial surgery, because several of the above-mentioned problems arising from the need to remove the bone fixing screws are eliminated [-]. Therefore, we used resorbable PLLA-PGA screws in the present case along with IP-CHA to avoid damage and infection of host bone caused by removal surgery.\nChacon et al. were the first to investigate a resorbable fixation system for autologous onlay bone grafting in an animal model []. Their study showed that resorbable screws provide excellent graft stability at the graft placement and graft retrieval stages, with no statistically significant difference between the titanium and resorbable groups in regard to the thickness of the mandibular graft site. In a clinical study, Quereshy et al. investigated the efficacy of resorbable fixation screws to fix autologous cortical onlay grafts to augment alveolar bone height and/or width in 11 patients []. Their results showed that cortical onlay graft integration and survivability were similar between resorbable and titanium screw fixation. In our case, no signs of inflammation or marked absorption of block bone were observed in the area of grafted bone and IP-CHA fixed with the PLLA-PGA screws. Thus, we consider that bioresorbable PLLA-PGA has no influence on graft integration, or survivability of autogenous bone and IP-CHA.\nHandling of an absorbable screw may be difficult as compared to fixation with a titanium screw, as a crack in the tread of the absorbable type can occur with use of excessive force. In the present case, we utilized an absorbable screw with a hex head [,]. This type of head automatically separates from the screw when an appropriate amount of torque is reached. If required, the screw can be further tightened using a driver with a torque limiting system. This type of screw can be used for secure retention and to prevent damage to the screw from over tightening because of the hardness of the recipient bone, and does not require special surgeon skill.\nC-CHA has been used in both craniofacial and dental applications [,]. However, there are few reports of C-CHA becoming fully filled by newly formed bone, which may be due to its structure and the limited connectivity between pores []. Inter-pore connections that are less than 2–3 μm in diameter do not allow for cell migration or vascularization into pores, events that are essential for new bone formation []. Thus, IP-CHA, a second generation porous calcium hydroxyapatite, was developed by use of a "form-gel" technique. This agent has a three-dimensional structure with spherical pores of uniform size interconnected by window-like holes that have diameters greater than 10 μm []. A previous in vivo study using a rabbit model reported mature bone ingrowth in IP-CHA inserted into bone defects in all of the pores []. Clinically, IP-CHA has been used in the fields of orthopedic surgery, including cases with osteonecrosis of the femoral condyle, juxta-articular intraosseous lesions related to rheumatoid arthritis, and benign bone tumors []. Our group previously performed implant placement and maxillary sinus floor augmentation with mixed grafts composed of cortical bone and IP-CHA granules in a female patient, and reported clinical behavior and histological aspects []. On the other hand, there are problems regarding resorption of the autogenous grafted bone during healing. In a histologic evaluation of hydroxyapatite as an onlay bone graft substitute in clinical cases over a period of 9 years, hydroxyapatite graft particles showed no signs of active resorption []. In the present case, we used IP-CHA to fill the gaps between autogenous and recipient bone, and bone volume in the alveolar ridge was restored after 34 months without active bone resorption. IP-CHA may be an effective bone substitute to obtain greater thickness of the alveolar ridge in autogenous onlay grafting for recovery of severe alveolar atrophy.\nThis is our first use of bioresorbable PLLA-PGA screws and IP-CHA during onlay grafting as a part of prosthetic treatment. No signs of postoperative infection or abnormal resorption of grafted bone were observed at 34 months after bone augmentation. Furthermore, those had no influence on graft integration and survivability of the autogenous onlay grafts. Therefore, we consider that IP-CHA and PLLA-PGA screws are useful materials for autogenous onlay bone grafting. |
A 58-year-old lady with multiple comorbidities presented to her general practitioner with a palpable warty nodule at her urethral meatus. She had a prior 2-year history of malaise and microcytic anaemia. These were attributed to her known history of gastritis, systemic lupus erythematosus, and hypothyroidism.\nThe urethral nodule had gradually appeared over a course of a few months. There was no history of weight loss or abdominal pain. On examination the abdomen was soft and nontender with no palpable masses. She was thus referred to the urology clinic for further investigations. Five days prior to her appointment she suffered from a single episode of frank haematuria. In view of the haematuria a renal tract ultrasound scan and flexible cystoscopy were organised.\nThe ultrasound scan of the renal tract demonstrated a single large mass arising from the left kidney, reported at the time as a possible angiolipoma with no other possible findings. A week later flexible cystoscopy confirmed the presence of a warty nodule near the urethral meatus (); the rest of the urethra and bladder mucosa were unremarkable.\nIn view of the findings the patient was put on the waiting list for a rigid cystoscopy and excision of the nodule. In the interim period a CT urogram () was requested and performed revealing a 9 cm mass arising from the upper pole of the left kidney and invading the retroperitoneum. There was also evidence of mediastinal lymphadenopathy along with multiple bilateral adrenal and pulmonary metastases.\nThe patient underwent excision of the nodule the following week. Histological examination of the nodule confirmed the presence of a Fuhrman Grade 3 invading clear cell renal carcinoma ().\nThe results of the CT scan and of the histological analysis were discussed in the urology MDT. It was decided that the patient should be started on the Panther Trial and treated with neoadjuvant Pazopanib, with a view of reducing the tumour size prior to considering surgical resection.\nA follow-up CT scan () four months later displayed shrinking of the tumour and a decision was then made to proceed with radical nephrectomy. This was performed less than a month later with no intra- or postoperative complications. She was soon restarted on the Pazopanib therapy under the care of the oncology team.\nThe patient is now two and a half years after the initial diagnosis; she has been followed closely with regular CT scans and flexible cystoscopies. There has been no evidence of local tumour recurrence. Based on imaging, some of the adrenal and pulmonary metastases have disappeared whilst the persisting ones have reduced in size and have remained stable for over a year. There is no current evidence of any new lymph node involvement. |
A 49-year old female patient presented at the emergency department with complaints of pain, sensitivity, and deformity in the left hip following a simple fall at home. From the history, it was learned that the patient had osteopetrosis tarda and had not previously had any fractures. Physical examination revealed that there were abduction and external rotation deformity in the left lower extremity and pain on palpation in the hip. On direct radiography, a subtrochanteric femur fracture was determined (). Apart from mild anemia, other laboratory test results were normal. The patient was admitted to our clinic for planned surgical treatment of intramedullary PFN. Under general anesthesia, the patient was placed into the right decubitus position and the left lower extremity was prepared.\nThe fracture line was opened with a longitudinal incision from the lateral. The fracture ends were reached. The whole of the femur medulla was seen to be closed and sclerotic. The medulla was then drilled and opened with a series of reamers. During this process, the drill bit was broken twice and one of the broken drill bits remained in the medullary canal. The fracture was then reduced and fixation was made with one antirotation wedge PFN screw (TST®, Turkey). One lag screw and one antirotation wedge were advanced in the femoral neck, and the distal screw was locked with two nails. Throughout the operation, particularly during the drilling, extreme difficulties were experienced.\nFluoroscopy checking was applied and the operation was concluded. On the radiograph taken on postoperative Day 1, the lag screw was seen not to be fixed in the femoral head (), so revision surgery was planned for the patient. On postoperative Day 4, the patient was again taken in for surgery, the PFN was removed and fixation was made with a proximal femur plate (TST). As there was no good bone contact in the trochanteric region during the operation, allograft of 30 cc corticocancellous chips was applied. During the operation, the drill bit broke once. Under fluoroscopy control, the operation was terminated (). On postoperative Day 8, a dense seropurulent discharge started. The laboratory test values were: C-reactive protein (CRP), 13.2 and erythrocyte sedimentation rate, 85 mm/s. In the culture antibiogram which was applied, klebsiella pneumoniae proliferation was determined. After consultation with the infectious diseases department, treatment was started with the sensitive antibiotic imipenem silastatin sodium 4×500 mg intravenous (IV).\nAs the discharge continued, debridement was performed twice, on days 10 and 15 after the second operation. During the debridements, deep tissue cultures were taken. All the allografts were removed. In both debridements, irrigation with 3000 cc of pressurized saline was performed. Following the debridements, the discharge recovered and the patient was discharged with oral antimicrobial treatment. At the 3- and 6-month follow-up examinations, there were no abnormalities in the laboratory test values but union was not observed on the direct radiographs. Findings of bone union started to appear at the postoperative 9-month follow-up examination. At the postoperative 12th month examination, union of the fracture was observed (), but in the distal of the incision line, a fistula opening and discharge were determined. The proximal femur plate was removed and extensive debridement was applied.\nHowever, the drill bit could not be removed from the intramedullary region (). In the culture taken, K pneumoniae production was again determined, so IV antibiotic treatment was started (imipenem cilastatin 4×500 mg). When the discharge stopped and the laboratory values returned to normal, the patient was discharged with a 6-week course of oral antibiotics. When the oral antibiotic treatment finished, the patient presented again with fistula opening and wound site discharge. Extensive debridement was again performed and by opening a window in the lateral femur, the broken drill bit was removed. Following this operation, antibiotic treatment of 6 weeks IV followed by 6 weeks oral was administered. After finishing the antibiotic treatment, the CRP and sedimentation values were found to be normal at three polyclinic follow-up examinations at 1-month intervals. The patient was again evaluated at the final follow-up examination 8 months postoperative to the last operation. Direct radiographs were taken (). The sedimentation and CRP values were normal. There was no discharge from the wound site. The patient was able to ambulate with a single crutch and was pain-free. Written informed consent was obtained from the patient for this publication and the figures. |
A 72-year-old right-handed man with a history of severe headaches was admitted to our hospital emergency room. He was a non-smoker, not an alcoholic, and had no history of vascular disease. In 1995, he underwent an appendectomy and was diagnosed with gastritis. When his headaches were investigated in another hospital, the remnant of a transitory minimal subarachnoid hemorrhage was observed. A few years later, follow-up brain computed tomography (CT) to investigate the causes of recurrent headaches also revealed a right frontal chronic subdural hemorrhage. The time of diagnosis of these conditions is unknown.\nOn the morning of his visit to the emergency room, the patient had stuttering speech and left-sided hemiparesis. On arrival, his blood pressure was 137/87 and his pulse rate was 104. He was drowsy and the motor grade of his left side was zero. Subsequent brain CT showed a right frontal lobe intracerebral hemorrhage (), and intracerebral hemorrhage catheter insertion was performed on the same day. Brain CT conducted two days after the procedure showed resolution of the intracerebral hemorrhage. The patient's vital signs were stable, but he was still drowsy. Immediately after the operation, he suddenly became stuporous. However, brain CT performed to assess the cause of this mental change did not show signs of intracerebral hematoma. However, he was placed under observation. Approximately three hours after the operation, the patient returned to his previous state of drowsiness. He could not follow instructions but had some verbal output.\nSeven days after the operation, the patient suffered respiratory difficulty and was intubated. No specific reasons could be identified that had aggravated his condition. Thus, another brain CT was performed and a new intracerebral hemorrhage was observed at the septum pellucidum (). On the 20th postoperative day, hyponatremia was observed in a routine laboratory test. On the 24th postoperative day, the patient's serum sodium level fell further. A brain CT scan conducted to identify the cause of this revealed a third intracerebral hemorrhage at the left frontal subcortical area (). The patient finally passed away due to pneumonia and severe cerebral edema approximately five weeks after his first hemorrhage.\nTo determine the causes of these recurrent cerebral hemorrhages, we conducted laboratory examinations to exclude conditions such as autoimmune etiology and blood coagulopathy. A multidisciplinary test in cooperation with the Rheumatology Department showed positive anti-cardiolipin antibody (IgG), which suggests the possibility of antiphospholipid syndrome. Subsequent tests were performed for DNA, RNP, SM, RO, RA, lupus anticoagulant, anti-beta2GP1 IgM/IgG, ANA IFA and centromere auto-antibodies, but all yielded negative findings. This ruled out possible autoimmunity. Laboratory tests for blood coagulopathy included assessments of fibrinogen, D-Dimer, thrombin time, antithrombin III, and FDP. The D-dimer and FDP levels were 662 ng/mL (range 0-243) and 7.87 µg/mL(range 0-5), respectively. It was thought that these results were because of the poor general condition, rather than blood coagulopathy as results of other tests were normal. No definite abnormality was found in CT angiography (). Due to the patient's condition, we could not perform further evaluation of other vascular anomalies, such as venous sinus thrombosis or dural arteriovenous fistula. The patient's lung condition was very poor due to pneumonia and pleural effusion. We therefore discussed the possibility of other diseases with the Radiology Department, who advised that the possibility of other disease was very low.\nWe also performed a pathologic examination on brain tissues acquired from the intracerebral hemorrhage catheter. Nothing of interest was found except for fragmented brain tissue with hemorrhage (). The Pathology Department explained that tissue staining was not necessary since it was could be reasonably deemed that the tissues of the brain were normal. |
A 37-year-old female presented with altered mentality. Upon arrival, she could not open her eyes and exhibited trace muscle contraction to painful stimuli. There was no external mark of injury and both pupils were dilated and fixed. Brain computed tomography (CT) performed at the emergency room revealed acute SDH compressing the left hemisphere extensively. The maximal thickness of SDH was measured to be 15 mm, causing 14 mm midline shifting to the right side and transtentorial herniation (). There was no evidence of SAH or ICH. However, after taking past medical histories from her parents, we found out she had been diagnosed as having an intracranial aneurysm. The patient had undergone digital subtraction angiography (DSA) one month ago at other institute. Coil embolization had been recommended after DSA, but the patient and parents were reluctant to accept the risks related to preventive treatment.\nSubsequent CT angiography obtained at the emergency room demonstrated an aneurysm arising from the distal ICA (). But, it was not clear whether the aneurysm was related to the SDH or not. We decided to evacuate the SDH immediately and requested her parents to bring a copy of DSA images. Under general anesthesia, a large fronto-temporo-parietal craniotomy was performed. A small skull defect close to the Kocher's point was found, that was later found to be the vestige of external ventricular drainage performed 20 years ago for unexplained spontaneous intracranial hemorrhage. The dura mater was widely opened and the possible sources of SDH were carefully investigated with removal of hematoma. There was no evidence of cortical SAH, brain contusion, or bleeding in the cortical arteries as well as bridging veins. However, when we explored the orbitofrontal cortex, thick clots covering the gyrus rectus and the medial orbital gyrus was noted and was presumed to cover the source of SDH.\nAt that time, the patient's parents brought DSA images demonstrating a large right-angled aneurysm arising from the dorsal wall of the left internal carotid artery (). The size of aneurysm was measured to be 12 mm in maximal diameter with a 5 mm-sized neck. To clip the aneurysm neck first, the carotid cistern was opened and the ICA was exposed under the microscope. There was no SAH in the carotid cistern and the elongated aneurysm neck ran beneath the optic nerve (). Direct neck clipping was performed without too much difficulty and the thick clots covering the aneurysm dome was removed (). The aneurysm dome breaking through the gyrus rectus was confirmed and the presumed ruptured point that caused pure SDH was embedded within the clots. She regained her consciousness two weeks after surgery and is currently undergoing rehabilitation treatment. |
Medical history is as follows: 39-years-old woman was hospitalized in our clinic with signs of intermittent claudication (Fountain IIb) in the right lower extremity. The symptoms started 15 days prior to admission and were accompanied with unpleasant tingling sensation in the leg. The patient sought medical help in a hospital facility, but no extensive diagnostic and therapeutic procedures were undertaken, and she was recommended to contact a cardiologist to perform Doppler ultrasound of the lower limbs. Although the general aspect of the patient alluded to a healthy individual, a more detailed history uncovered severe weight loss of 15 kg in the last 5 months. She had no risk factors for atherosclerosis and has never been hospitalized prior to this event. Physical examination revealed a cold, marmorized right lower extremity with an absent pulse starting at the level of the right popliteal artery. The laboratory analyses revealed sideropenic anemia (hemoglobin of 9.8 g/dL and mean corpuscular volume of 73 fL) with high erythrocyte sedimentation rate (66/120), elevated C reactive protein (118 mg/L), and elevated D-dimers (1.10 micrgr/mL). Other biochemical parameters were within normal range. The echocardiographic examination visualised large mobile structure in the left ventricle attached to the lateral wall with dimensions 24 × 14 mm with echocardiographic characteristics typical of thrombotic material.\nThe possibility of arterial thrombosis led to the further diagnostic work-up towards CT angiography. It revealed multiple arterial thrombi starting with a big floating thrombus in the left ventricle (), followed by intramural thrombus in the distal descending aorta (with diameter of 9 mm) () and thrombus in the superior mesenteric artery and the right popliteal artery (). The CT scan also incidentally discovered the presence of enlarged lymph nodes in the paraaortic (with largest diameter of 10 mm) and gastroepiploic region. After a consultation with a vascular surgery team and a given recommendation for conservative treatment, the patient was treated with UFH intravenously for 9 days and then overlap and finally switched to warfarin. 11 days later, the control echocardiogram did not show any residual thrombotic material in the left chamber. The control hemostasis was in the normal range, with international normalized ratio (INR) kept in the range of 2-3. The presence of abdominal lymphadenopathy accompanied with hypercoagulable state of unknown origin, severe weight loss, and sideropenic anemia with high sedimentation rate raised the suspicion of undiscovered malignancy. An upper endoscopy was performed and it discovered ulcer like excavation with irregularly formed edges located on the lesser curvature with dimension of 30 mm and three slightly elevated lesions in the proximal part of the gastric corpus. The macroscopic features of these changes were highly suspicious for gastric carcinoma, and the diagnosis was confirmed with biopsy. It revealed the presence of moderately differentiated invasive gastric adenocarcinoma with malignant cells with nuclear grade 2. Immunohistochemical analysis was also performed (HER2/neu(+)). The biopsy suggested an intestinal type of cancer according to Lauren's classification of gastric cancer. After consultation with abdominal surgeon, our patient was directed to the Digestive Surgery Department for estimation of future treatment of the underlying condition. |
A 16-year-old female patient was referred to our cardiology polyclinic with the complaint of palpitations. A continuous mechanical heart murmur located at the upper left sternal border was detected on physical examination, and transthoracic echocardiography revealed a patent ductus arteriosus (PDA). The patient's pulmonary artery pressure and left ventricular function were evaluated as usual. She was taken to the catheter hall to undergo the PDA closing procedure on the following day because she was symptomatic, as the murmur was detected in the physical examination. Angiography performed in the catheterization laboratory defined the anatomy of the ductus arteriosus. After the determination of the length and diameter of the PDA, it was successfully crossed with a 0.035-inch hydrophilic guide wire and closed with a 4 mm × 7–3 mm AMPLATZER™ Duct Occluder II device (St. Jude Medical, Plymouth, MN, USA) []. The patient was taken to cardiology service without experiencing any problems in the catheter hall.\nIn the cardiology regular service, the patient had a sudden onset of left-sided blunt abdominal pain 3 h after PDA closure. Thus, she was taken back to the catheter hall for renal angiography because of the suspicion of the left renal ischemia. Renal artery angiography did not demonstrate any complications that could have occurred during PDA closure, such as dissection or perforation of the left renal artery []. We decided to perform an abdominal computerized tomography (CT) to evaluate the cause of the abdominal pain. CT images demonstrated a subcapsular hematoma putting pressure on the left renal cortex, starting from the left kidney upper pole, and extending to the lower pole along the lateral neighborhood kidney, and it had a size of 77 mm × 62 mm × 30 mm []. Blood samples of the patient that were taken after the abdominal pain began revealed a hemoglobin value of 9.8 g/dL, which was 13.2 g/dL before the PDA closure procedure. Three units of erythrocyte suspension transfusion were given to the patient. Intravenous hydration, prophylactic antibiotic therapy, absolute bed rest, and analgesia were given to the patient according to the recommendations of the Urology Department.\nOn the following day, the hemoglobin values were stable. The left-sided abdominal pain of the patient decreased slowly. In the succeeding abdominopelvic ultrasound and CT controls, significant decreases were observed in the size of the subcapsular hematoma. Control CT performed before discharge of the patient revealed that the hematoma decreased to approximately 4 cm at the widest point and that it was partially organized []. Renal artery venous engorgement was normal. The patient was discharged from hospital 7 days after the PDA closure. The 1st-month control of the patient did not indicate any clinical problems. |
A 60-year-old African American female was following up for her chronically elevated alkaline phosphatase levels. She had a history of hypertension, hyperlipidemia, type 2 diabetes mellitus, allergic rhinitis, and chronic lower back pain. Patient has a family history of arthritis, cardiovascular disease, and diabetes mellitus; she denies ever using alcohol or tobacco.\nWith the onset of elevated alkaline phosphatase level and vague abdominal pain in 2013, an abdominal ultrasound performed in December showed hepatic steatosis. Viral serologies for hepatitis during 2013 were negative, as a gastrointestinal consult was required to determine the need for a liver biopsy. A liver biopsy was subsequently performed, which showed focal mixed micro and macrovesicular steatosis. Portal tracts showed minimal focal chronic inflammation, no significant fibrosis, and no iron deposition.\nThe vague abdominal pain that she was experiencing waxed and waned for two years. Additionally, the patient experienced some vague chest pain and dyspnea that prompted an echocardiogram in February of 2015, which demonstrated a left ventricle ejection fraction of 44%. Consequently, a left heart catheterization in the following month showed no significant coronary disease with a dilated left ventricle with an ejection fraction of 50%. A 2-year follow-up in July of 2015 showed suspicious cirrhosis by Computed Tomography (CT) scan (), possibly due to granulomatous changes and chronic inflammation. A CT scan was determined to be necessary for our patient because of rising alkaline phosphatase without other explainable etiologies, in addition to the patient's appetite suppression and vague abdominal pains. Patient's weight during this time was 207 lbs (93.89 kg) and was advised to diet and exercise. After 4 months of continuous symptoms, especially with abdominal pain, a laparoscopic cholecystectomy was performed with a liver biopsy that showed subsequent granulomatous changes in September of 2015. The liver biopsy showed coalescing periportal nonnecrotizing epithelioid granulomas with associated multinucleated giant cells and chronic inflammation. The chronic and patchy inflammation is representative of the granulomatous hepatitis, despite not having elevated transaminases. The granulomatous changes suggested possible sarcoidosis (). The liver biopsy was not histologically suggestive of nonalcoholic steatohepatitis, with no steatosis noted. Chest X-ray at that time showed no significant findings.\nInflammatory bowel disease (IBD) was not explored in the patient because she never had clinical signs on past or present examinations, denying any symptoms of IBD including alternating bowel habits, predominant constipation, or diarrhea. Laboratory studies 2 years and 6 months since the onset, at the end of 2015 showed negative antinuclear antibodies (ANA), negative rheumatoid arthritis factor, negative cyclic citrullinated peptide (CCP) antibodies (IgG/IgA), elevated C-reactive protein of 8.9 mg/L, normal complement C3/C4, elevated B-type natriuretic peptide 688.6 pg/mL, and negative mitochondrial (M2) antibody. Subsequent office visits and additional laboratory results are shown in .\nAdditionally, patient experienced peak weight loss with a weight of 154 lbs. (69.85 kg) in 2016. During this time period, an echocardiogram showed a decreased ejection fraction of 26%. This result and a history of having ventricular tachycardia resulted in the patient having an automated implantable cardioverter-defibrillator (ICD) placed.\nUrinalysis in June 2017 showed RBC 0-5/hpf, WBC 0-5/hpf, bacteria 2+, and moderate calcium oxalate crystals. Additionally, patient's weight increased in 2017 to 190 lbs. (86.18 kg). |
A 42-year-old female with secondary RP and a history of Sjögren’s syndrome, systemic lupus, limited cutaneous systemic sclerosis, rheumatoid arthritis, and autoimmune hepatitis reported pain of 8 out of 10 on the VAS for pain. Despite treatment with nifedipine and sildenafil, she still had inadequate control. She received an initial injection of 50 units of onabotulinum toxin diluted in 5 ml of normal saline to her right hand with moderate improvement, but she experienced persistent pain of the right middle and index fingers after five days. An additional 30 units of onabotulinum toxin in 3 ml of normal saline was then injected in three sites in the surrounding webspaces with subsequent improvement and resolution of pain (Table ).\nFive months later, she received 300 units of abobotulinum toxin diluted in 10 ml of 1% lidocaine over 10 injection sites on her right hand. This was repeated every three months for two more visits, typically reducing her pain level from 8 out of 10 to 2 out of 10 within a week. However, the patient noted a weakness in her right hand. At her 14-month follow-up, an ulcer was noted on the right middle finger; hence, the right hand was treated with only 240 units of abobotulinum toxin in order to minimize weakness. Once again, her symptoms resolved, and relief persisted and lasted for 10 months at which time another treatment was repeated with 270 units of abobotulinum toxin to treat her RP pain (Table ). With this lower concentration, the patient reported equal symptom improvement and less hand weakness after three months compared to the treatment with 30 units/1 ml. At her 17-month follow-up, she had developed symptoms in her left hand and was treated with 240 units of abobotulinum toxin A. After that treatment, she noted significant improvement in symptoms, but not to the degree that she had previously noted with 300 units on her right hand. At the 21-month follow-up, she was again treated, but with 270 units of abobotulinum toxin that was diluted with 5 ml of lidocaine in order to limit diffusion, and this resulted in significant improvement (Table ). |
A 52-year-old female ex-smoker was admitted for elective left delayed breast reconstruction with a free tissue transfer. She had previously undergone a left mastectomy with axillary node sampling and adjuvant chemotherapy for a multifocal invasive grade two lobular breast cancer with a Nottingham prognostic indicator of 3.64. The tumour excision was complete with no histological evidence of vascular invasion nor was there tumour evident on any of the four nodes sampled. It was weakly estrogen receptor positive and strongly progesterone receptor positive but human epidermal growth factor receptor-2 negative. As this is not a typical feature of lobular carcinoma, the patient received six cycles of adjuvant chemotherapy to reduce her risk of disease recurrence in addition to hormonal treatment with anastrozole. Her past medical history included familial hypercholesterolaemia and transient ischaemic attack for which she was anticoagulated with aspirin, discontinued 10 days prior to surgery.\nThe transverse rectus abdominis myocutaneous flap was raised on the left deep inferior epigastric vessels. The IMA and vein were exposed at the level of the 3rd intercostal space without dissection of the costal cartilage rib exposing a good calibre size on each vessel. The internal mammary vessels were divided, and the proximal end of each used as the recipient vessel to establish antegrade flow. Of note, the arterial vessel wall was thin, and there was also some bruising in the adventitia. End-to-end anastomosis was carried out as a routine with a 9-0-nylon suture. The IMA wall was found to be extremely friable and kept tearing. Proximal costal cartilage was removed to get more exposure and length. However the vessel adventitia was damaged and the wall was very thin at this level as well. A further three attempts at anastomosis did not result in a successful flow. The proximal IMA was shortened and a further attempt at anastomosis undertaken; however, the adventitia was again found to be soft and easily friable. The thoracodorsal axis was explored including the serratus branch of the thoracodorsal artery, the thoraco-acromial and lateral thoracic artery. Unfortunately, the vessels were of small calibre, and the flow was deemed unsuitable to support a free flap.\nIn a last attempt to salvage the flap, we considered the distal end of the IMA, as the wall appeared to be in a better condition, and the retrograde flow seemed as good as the anterograde flow. End-to-end anastomosis of the distal part of the divided IMA was successful on the first attempt, establishing retrograde flow with anterograde flow of the venous anastomosis. The total ischaemic time in this case was 3 h. The patient experienced an unremarkable post-operative recovery and was discharged home on the third post-operative day. At 3 months post-operative the patient was satisfied with the aesthetic appearance of the breast reconstruction, which was well perfused with no areas of skin necrosis. |
A 20-year-old asymptomatic female, G1P0, with a history of curettage, is presented to the Department of Gynecology and Obstetrics for termination of pregnancy. Her last menstrual period was 17 weeks and 2 days ago. Abdominal ultrasound revealed a clear gestational sac (GS), fetus with heartbeat and placenta previa. Abdominal ultrasound also showed the GS at a distance from the cavity, with a compressed myometrium between the two of them (). The patient received a MRI examination, showing an enlarged uterus of 13.0 cm ×11.7 cm × 7.9 cm, because of pieces of evidence. The MRI demonstrated a foetus with clear organs (), and compressed the lower uterine segment (). The GS was not connected with the uterine cavity and endometrium, but embedded into the myometrium in the right posterior wall of the uterine. A linear hypointensity of the junction zone was observed between the GS and the uterine cavity on T2weighted image ().\nThis result is likely to be placenta implantation as the myometrium cannot be separated from the placenta. The patient was at risk of the uterine rupture and life- threatening haemorrhage. Emergent management should be performed. Performing uterine artery embolization (UAE) and interventional therapy is inadvisable because of the obstructing myometrium between the cervix and placenta. Employing a surgical exploration of the abdomen was decided that was undertaken under temporary balloon occlusion of the abdominal aorta to reduce the loss of blood. The balloon was placed in the abdominal aorta between the opening of renal artery and iliac artery just before the operation. If the area of the focal damage was heavy, the subtotal hysterectomy or hysterectomy was needed. Otherwise, clinicians can perform excision by laparotomy and hysteroplasty. Given the age of patient, clinicians did their best to perform hysteroplasty instead of hysterectomy. The intramural ectopic GS in the second trimester was successfully excluded without life-threatening haemorrhage (). The patient had an uneventful postoperative course. Her β-hCG titre decreased to 1727 mIU ml–1 on the second day after operation, and then to 440.1 mIU ml–1 on the sixth day. She was discharged 6 days after surgery. |
A 32-year-old woman in her first pregnancy presents at 20 weeks’ gestational age with shortness of breath, small-volume hemoptysis, sinus tachycardia and left-leg edema. She has no significant past medical history and the pregnancy up until the point has been uncomplicated. Chest X-ray is unremarkable.\nPregnancy increases the risk of VTE, with an overall 1–2 in 1000 rate of venous thrombosis [,,]. Similar to the general population, no specific clinical sign or symptom is sufficiently specific or sensitive for diagnosing VTE. For example, shortness of breath is a common occurrence in pregnancy and can be caused by a broad differential of both physiologic and pathologic processes [].\nThe LeFT score can be used to refine the pretest probability of DVT in pregnancy [,]. The LeFT score includes three clinical criteria: symptoms in the left leg (L); edema with a calf circumference difference ≥ 2 cm (E); and first-trimester presentation (Ft). In the derivation cohort, no DVTs were diagnosed in patients with zero of the above risk factors. Patients with one risk factor had a DVT prevalence of 8.8% and those with two or more risk factors had a DVT prevalence of 58% [].\nIn patients with clinical concern for DVT, ultrasound is the recommended first imaging test, even if there is also concern for PE []. This takes into account the increased risk of lung imaging to both the fetus and mother during pregnancy []. As treatment generally does not differ between patients with DVT and PE and those with only DVT, ultrasound is a safe and accessible mechanism to inform treatment in pregnancy. In patients in whom a DVT is found, imaging for PE is generally not required in pregnancy. However, in patients being evaluated for PE without features of DVT, the diagnostic yield of screening ultrasounds is low and likely of limited utility [].\nBack to the case: The patient has clinical features of both DVT and PE. Applying the LeFT score, this patient has a score of 2 (left-leg presentation and edema), corresponding to a DVT probability of approximately 10% []. Based on this risk, further tests to evaluate for VTE are required. To avoid risks associated with lung imaging, bilateral proximal legs ultrasounds are performed. These are negative for DVT. A D-dimer is also performed and is 650 ng/mL.\nAs in the general population, pregnant patients with negative proximal venous ultrasounds appear to have a low rate of subsequent DVT in follow up []. However, there remains greater uncertainty in pregnancy and VTE remains a major cause of pregnancy-associated morbidity and mortality [,]. As a consequence, a greater burden of evidence to exclude VTE is required in pregnancy than in the general population and additional imaging after a single negative ultrasound is recommended []. In women where there is ongoing clinical concern for isolated DVT (i.e., no features of PE) we advocate for a repeat ultrasound at one week. MRI is an alternative approach and has been shown to identify a greater and more proximal clot burden than ultrasound in women with known DVT []. The clinical significance of this is unclear and does not necessitate the use of MRI over ultrasound for follow up of suspected DVT. Moreover, gadolinium does cross the placenta and is associated with risk to the fetus [].\nBack to the case: In addition to concern for DVT, there are also symptoms suggestive of PE. As lower-extremity U/S did not identify a DVT, the patient requires further evaluation to rule out PE.\nGiven the risks of radiation exposure with CT and V/Q strategies, the utility of D-dimer to obviate the need for chest imaging in pregnant women has been explored. D-dimer levels naturally rise during pregnancy thereby limiting the usefulness of standard D-dimer algorithms to rule out VTE in pregnancy []. Fortunately, the incorporation of pretest probability adjusted D-dimer levels have been shown to be a promising approach in pregnancy. The pregnancy adapted YEARS algorithm risk stratifies pregnant women with suspicion for PE by using three clinical criteria. The clinical score is then combined with a risk adjusted D-dimer to guide management. Out of 494 women with suspicion for PE and in whom DVT was excluded, VTE was ruled out in 195 women (no clinical YEARS criteria and D-dimer < 1000 ng/mL or 1–3 YEARS criteria and D-dimer < 500 ng/mL) without the need for a CT scan [].\nDespite improvements in the negative predictive ability of diagnostic algorithms, many women ultimately require lung imaging to assess for PE. Both CT angiography and V/Q scans have high sensitivity and CT angiography has high specificity for PE during pregnancy []. The decision between the two modalities is based primarily on availability and safety. Assuming both are available, we discuss with patients the inherent risks to both mother and fetus of each approach. We find it helpful to begin by reassuring the patient that the absolute risk of lung imaging is very low and the risk of empiric anticoagulation or missing a PE is much greater. However, the risk of imaging is not zero and the pros and cons of different modalities, including the possibility that indeterminate V/Q result may necessitate a CT angiogram, need to be considered.\nFetal radiation exposure is slightly higher with V/Q (0.5 mGy) scan than CT scan (0.1 mGy). Each mGy of fetal radiation exposure is associated with an approximately 1 in 2 million risk of fatal childhood cancer []. Therefore, the appreciable difference in fetal risk between CT and V/Q is exceedingly small and generally considered negligible [,]. The more significant issue is that there is greater maternal breast radiation with CT than V/Q scan which can potentially place the patient at increased risk for future breast cancer [,]. The magnitude of this risk in the context of breast shielding and other radiation reduction techniques is unclear. Based largely on this risk, the most recent guidelines from the American Society of Hematology suggest V/Q scan over CT but recognize both modalities as acceptable approaches in pregnancy []. However, since the prevalence of PE is higher in pregnant than non-pregnant patients, in cases where PE cannot be ruled out by V/Q scan, further imaging (e.g., CT angiography) should be obtained. This includes cases where there is a non-diagnostic V/Q scan or a mismatch between V/Q scan results and pretest probability.\nBack to the case: As there are multiple clinical features for PE (clinical signs of DVT, hemoptysis and PE as most likely diagnosis) and a D-dimer above the risk-adapted threshold, the patient requires lung imaging to rule out or rule in a PE. After reviewing the pros and cons of V/Q and CTPA with the patient, a decision is made to proceed with V/Q scan. Unfortunately, V/Q scan is not available for at least 24 h. So as not to delay treatment or expose the patient to extended empiric anticoagulation, a CTPA is organized. The CT scan documents a right-sided segmental pulmonary embolism and anticoagulation is initiated with low-molecular-weight heparin. |
In 1990, a 7-year-old white female suffered a trauma in a swimming pool and fractured the crown of her maxillary left central incisor. Her parents found the fragment, and a pediatric dentist placed a crown with the autogenous fragment. The fractured line of the left maxillary central incisor was below the buccal gingival margins, restricted to the crown. Radiographic examinations showed no abnormality; the tooth was followed up for a few months (clinical and radiographic controls) and showed no signs or symptoms that could lead to suspicion of pulp necrosis.\nAt eleven years old, while on a school trip, the patient developed swelling and drainage in her anterior maxilla, and she was immediately referred to an endodontist for root canal treatment of the maxillary left central incisor. The treatment was limited regarding pulp calcification; the obturator material did not fill in to complete the canal in the apical region (). At sixteen years old, the maxillary left central incisor darkened, and the patient underwent intracanal whitening. Eleven years later, at 27 years old, the patient was referred to a dental clinic for orthodontic treatment, with the chief complaint related to an accentuated deep bite, and a professional started orthodontic treatment. At this time, the patient presented a Class I occlusal relationship in the right side, a Class II full occlusion on the left side (Figures \n), an overbite and opened interincisor angle, a history of clenching, and TMD signs (click at both ATMs). At this stage, a periapical radiograph showed no significant changes in comparison to X-rays taken immediately after the root canal of the maxillary left central incisor (Figures \n).\nAfter sixteen months of orthodontic treatment, the maxillary left central incisor fractured. The fracture was confirmed by means of Cone Beam Computed Tomography (Figures and ). The patient did not agree with the treatment plan of this professional, which involved immediate extraction of maxillary left central incisor with implant placement, and she sought another professional opinion. At this time, our team evaluated the patient, and the prognosis at this stage was good for compensatory treatment (interincisor angle closure) and questionable for the maxillary left central incisor, requiring mechanical extrusion to expose the fracture line and reassessment to maintain the root or removal for implant placement. It is important to emphasize that the patient is a dentist, and she wanted to participate in the elaboration of treatment plan. She did not agree to have the tooth extracted—despite of the tooth presenting periapical lesions—without an attempt to keep the tooth and to undergo endodontic surgery at a later time for lesion removal. Thus, the conservative treatment plan included orthodontic treatment, including forced orthodontic extrusion of the maxillary left central incisor until exposure of the fracture line to allow for the fabrication of a crown.\nAt this time, endodontic retreatment was performed, with installation of an intracanal pin (Figures and ). The purpose of the pin was only to strengthen the tooth to allow for orthodontic extrusion and consequently to gain bone. Subsequently, forced orthodontic extrusion of the central incisor was undertaken (Figures and ) to restore the physiological periodontal attachment, according to de H. Salama and M. Salama []. The maxillary and mandibular arch were leveled using a stainless steel .018” arch wire, combined with bending for the extrusion of tooth 21, and each return was pronounced to achieve tooth extrusion.\nConcomitant to the tooth traction, Class II asymmetric mechanics were performed with elastics for the correction of the sagittal relationship, corroborating interincisor angle closure and lower midline and overbite correction. The orthodontic extrusion was completed after 8 months, and the maxillary left central incisor was repositioned and fixed with an orthodontic appliance in the cervix, with the intention of stabilizing the carried motion. At this stage, with the goal of orthodontic treatment achieving an end, orthodontic documentation was requested, and the lower braces were removed (Figures \n).\nComputed tomography (CT) was obtained to reevaluate the response of tooth 21 after orthodontic extrusion, and a perforation in the root was observed, likely a consequence of successive attempts at endodontic retreatment (). At this time, the team decided on implant placement with bone grafting, connective tissue grafting, and prosthesis.\nThe implant procedure was planned considering the bone gain obtained with mechanical extrusion and the level of exposure during smiling. The surgical procedure was initiated by incision of the buccal and lingual soft tissues around the tooth to be extracted, as well as on the contralateral aspect of each adjacent tooth (). Full-thickness flaps were elevated, and a minimally invasive surgery was performed to preserve the alveolar bone, using a periotome (Hu-Friedy, Chicago, IL, USA), associated with curettage of the periapical lesion. The treatment succeeded with implant placement (). shows the implant position (). After implant placement, an exact universal abutment (Morse Taper) was installed (Neodent, Curitiba, PR, Brazil). The provisional abutment was realigned and was adapted on the sleeve prior to cementing, and the gap between the bone and the implant labial plate was filled with Bio-Oss (Geistlich, Wolhusen, Switzerland) (). A subepithelial connective tissue graft () was inserted to improve the periodontal tissue biotype [], thus increasing the range of keratinized gingiva, favoring the red aesthetics, and avoiding recession. After implant installation, a provisional crown was performed in infraocclusion (Figures \n).\nFour months later, the provisional crown was removed to evaluate the gingival tissue (Figures and ). The gingival color, texture, and contour appeared similar to the adjacent soft tissues of the teeth (Figures and ). The definitive prosthesis was created eight months after the implant surgery, with implant and peri-implant tissue impressions obtained to create a custom abutment in zirconia with a CAD/CAM system (Figures and ). This case has been followed up, and the clinical and radiographic examinations have shown excellent aesthetic results (Figures \n) and satisfaction of the patient. Clinical success was achieved in this case with multidisciplinary treatment after 1-year follow-up (Figures \n). |
The patient was an 11 year old boy who had been involved in a MVA versus pedestrian accident in which a large vehicle rolled over his pelvis, resulting in an open book pelvic fracture, splitting the osseous structure of his pelvis. He sustained life-threatening injuries for which he underwent 19 surgeries over the course of one year in order to repair damage that resulted from the accident (). Because of healing from both the number of surgeries and trauma from the accident, the patient developed extensive scarring and abdominal adhesions as well as post traumatic stress disorder (PTSD). He had traditional physical therapy for three months to facilitate his ability to walk and perform daily functions. However, the patient experienced recurrent partial small bowel obstructions (SBO) that were treated non-surgically, and he required a laxative, polyethylene glycol (PEG) 3350 – oral, for maintenance of bowel function. The use of laxatives caused the patient distress and reportedly impacted his life significantly, causing rectal fecal leakage and thus furthered emotional distress in a pediatric patient medicated for PTSD.\nUpon initial physical therapy evaluation at a specialized manual therapy clinic, 19 months following the accident, the patient reported frequent constipation, pain of up to 7/10 during bowel movements, weakness and tingling in his left lower extremity and general pain that increased throughout the day. He expressed numerous goals, including the ability to participate in more athletic activities, to run a marathon, and to eliminate the requirement for pharmaceutical maintenance of bowel function. Findings from the initial evaluation, which included visual, palpatory, postural and movement exams were correlated with patient medical history, previous surgical reports, and physician diagnosis to determine adhered and dysfunctional areas requiring treatment. Restrictions, scars or adhesions were palpated by the therapists, major organs were identified, and decreased mobility of specific organs was determined. The patient was ambulatory, but exhibited a shuffling gait and a wide base of support with both hips held in external rotation. He presented with decreased range of motion in several areas that impacted his activities of daily living (), decreased strength, postural deviations, and biomechanical dysfunction, as well as myofascial, visceral and osseous restrictions due to scarring and adhesion formation after the original trauma, and from the 19 required surgical interventions. The extensive adhesions in his pelvis had also caused his left testicle to ascend into the inguinal canal where it was unable to be palpated, but was visible by diagnostic ultrasound.\nThe patient was treated with an intensive site-specific manual physical therapy called the Clear Passage Approach (CPA) or Wurn Technique for 4 hours a day for 5 consecutive days (a total of 20 hours). In accordance with the American Physical Therapy Association guidelines, detailed clinical treatment records were maintained on the patient throughout the course of therapy. These included symptomatic complaints, areas treated, duration and techniques performed. Unlike traditional physical therapy that often consists of exercise and modalities, the CPA utilizes a variety of techniques focused on creating microfailures of the adhesions by a variety of site-specific sustained pressures across restricted fascial bands of adhered tissues and organs. The amount and time of force that was applied to cause these microfailures was often significant, but varied with the tolerance of the patient and according to the location and delicacy of the tissues that were being treated. In previously published clinical trials and studies, these techniques increased range of motion, reversed infertility, prevented SBO and decreased pain in patients with histories indicating significant adhesion formation.\nTherapy focused on decreasing adhesions in order to decrease pain, and to increase function and range of motion. The patient’s response to treatment was significant and readily apparent to him, the therapists and his physicians. Following the initial 20 hours of treatment, the patient demonstrated an apparent decrease of adhesions evidenced by increased range of motion () of by at least 5 degrees for abnormal tests, and by improved myofascial, visceral and ligamentous mobility accessed via palpation. He reported decreased abdominal pain, increased frequency of normal bowel movements, and decreased use of laxatives by 50%.\nUpon urologic re-evaluation, his physician reported that the scar adhesions in his scrotum had decreased significantly. The urologist was optimistic that additional treatment would continue to decrease the scarring in his left inguinal region in order to aid in the increased mobility of the testis, possibly negating the need for surgical intervention for the ascending testicle. He recommended an additional 20 hour regime of the manual physical therapy.\nSeven months after the first CPA therapy (26 months following the trauma), the patient returned for an additional 20 hours of treatment focused on further decreasing adhesions. Following that therapeutic series, the patient again showed an apparent decrease of adhesions evidenced by improvement in range of motion (); improved myofascial, visceral and ligamentous mobility; decreases in pelvic and abdomen pain; decreases in left lower extremity pain and edema; and an improved gait. Pain and functional levels improved to the point that he reported no pain with bowel movements, increased frequency of bowel movements, and further decrease in the laxatives previously required for proper elimination. Upon further urologic examination, the physician noted that the patient demonstrated additional decreases in the scarring and adhesions in the inguinal area (, ) and the previously ascending left testicle was able to be reduced manually into the upper scrotum (, ). Ten months following the second treatment, his parents reported no surgical intervention for the ascending testicle and no further partial SBOs. Moreover, he was able to return to a normal diet, improving not only his health but also his return to normal daily activities after the accident. They reported that improvements in the patient’s physical ability to participate in normal activities also improved his mental status; he no longer required medication for PTSD associated with the MVA. |
A previously healthy 10-year-old boy visited a nearby hospital because of increasing pain and swelling in the area of his left leg that was first experienced a month ago. He had no history of previous trauma to the area of concern. His condition was diagnosed as osteomyelitis of the tibia and antibiotics were administrated. The patient showed no response to initial treatment for 2 months and was subsequently referred to our hospital. At his first visit to our hospital, he complained of severe nocturnal pain. Physical examination revealed mild swelling with tenderness in the middle part of his leg. Results of laboratory examinations indicated a normal white blood cell count, C-reactive protein level, and erythrocyte sedimentation rate. Radiographs showed a lucent zone and a surrounding sclerotic zone in the middle third of the tibia (). Computed tomography (CT) revealed a 10-mm circumscribed osteolytic area in the cortex of the tibia with surrounding sclerosis (). This radiographic appearance of a radiolucent nidus with surrounding sclerosis was consistent with the typical appearance of an osteoid osteoma. Moreover, a bone scan revealed the double-density sign, which is quite specific for diagnosis of osteoid osteoma (). Magnetic resonance (MR) images showed a 10-mm circumscribed abnormality located in the cortex of the tibia with surrounding soft tissue edema. The circumscribed signal abnormality was isointense in comparison with bone marrow on fat-suppressed T1-weighted images and was moderately enhanced by gadolinium (, ). Axial CT images of the lesion clearly demonstrated an osteolytic lesion corresponding to the abnormality seen on MR images. The patient’s symptoms markedly improved with NSAIDs and his parents did not provide consent for surgical treatment. He was therefore treated with a usual dose of ibuprofen (300 mg/day, 3 times daily) for 3 weeks. Within 3 weeks, his symptoms were almost completely resolved; he no longer needed NSAIDs and returned to normal life. Serial images including radiographs, CT scans and MR images revealed complete radiological resolution of the nidus 2.5 years after initial presentation (). An early complete remission of osteoid osteoma with conservative medical treatment was confirmed in this patient.\nAt the 5-year follow-up visit, patient was free of pain and there was no evidence of recurrence. |
A female patient, aged 47 years, came to Department of Plastic Surgery at Humanitas Research Hospital in February 2013. She was referred to the department for surgical removal of maxillary exostosis in 1999 and related to the surgery a scar adhered to deep planes at the upper right of the vestibule which determined important pain symptoms extending till the right shoulder both during chewing and at rest, interfering with feeding and speaking.\nMoreover the patient revealed chronic assumption of analgesic medication (Ibuprofen 600 mg) to control pain sensation. She did not assume any other medications.\nClinical history revealed a diagnosis of Sjogren syndrome and corrective surgery of cleft palate in 1996; no other pathologic conditions were present.\nClinical examination showed a postsurgical scar area of about 2 cm in length, retracted and adherent to deeper planes just at the upper right of the vestibule, which causes pain at digital pressure.\nAfter collection of both clinical history and examination we proposed to our patient surgical scar tissue correction with autologous fat grafting.\nOur patient was informed about surgical procedure in particular regarding fat grafting unpredictable reabsorption rate and clinical results in this particular case. Both informed consent form and preoperative images were collected ().\nAfter routine preoperative examination and clinical assessment, the patient underwent liposuction under sedation and local anesthesia. The adipose tissue was harvested from the right flank, which is an easy accessible and abundant reservoir of adipose tissue.\nFollowing Coleman's procedure [], the obtained fat was processed by centrifugation at 3000 rpm for 3 minutes. The fat graft was injected using an 18-gauge angiographic needle with a snap-on wing (Cordis, a Johnson & Johnson Company, NV, Roden, Netherlands) under mucous membrane in the scar area at the upper right vestibule (). A total of about 5 cc of adipose tissue was injected.\nFollowing surgery pressure dressing was applied over donor site for 5 days and antibiotic therapy was recommended for 5 days (cefixime 400 mg 1 pill per day).\nClinical assessment was performed after surgical procedure at 5 and 14 days, 1, 3, and 6 months, and 1 year.\nDuring the clinical meeting we observed progressive release of scar retraction and quality improvement measured with POSAS scale [], together with an important decrease of pain symptoms which lasts for all the postoperative follow-up controls ().\nAfter 3 months from surgical operation we performed an MRI of the facial skeleton and we appreciated a soft tissue volume increase in the area of previous fat grafting (). No local or systemic signs of infection were found, and no complications occurred. Moreover the patient declared that she stopped analgesic drug assumption immediately after operation. |
A 15-year-old male presented to the emergency department for evaluation of neck and chest pain. He was running at a brisk pace when he felt a sudden sharp pain in his neck followed by sustained pain in the center of his chest and neck. He reported the sensation of shortness of breath and nausea, but no dysphagia or dysphonia. There was no history of trauma to the head, neck, or chest. He was previously healthy with no prior medical problems or prior surgeries and had no history of familial or congenital medical conditions. Most notably, the patient had no family history of sudden cardiac death, aortic disease, or connective tissue disease. The patient endorsed having no known allergies and did not take any medications on a daily basis.\nOn arrival, he displayed mild tachypnea with a respiratory rate of 22 breaths per minute, but otherwise had normal vital signs with a blood pressure of 128/80 millimeters of mercury, heart rate 66 beats per minute, temperature 37 degrees Celsius, with 98% oxygen saturation on room air. His airway showed no evidence of impending compromise. He appeared to be in moderate distress secondary to pain. He demonstrated respiratory splinting and held his neck and shoulders still to prevent worsening of pain. He had mild nasal flaring, but his lungs were clear to auscultation bilaterally. He had no evidence of stridor. Palpation of the chest revealed tenderness near the right sternoclavicular region of his chest. Pulses were palpable and equal in all extremities.\nA chest radiograph showed lung markings to the periphery bilaterally, no consolidations, and no opacities (). The mediastinum appeared widened, which prompted a computed tomography (CT) angiogram of the chest and neck to better evaluate vascular anatomy. This revealed a pseudoaneurysm of the proximal innominate artery (). There was also high attenuation blood tracking from the superior mediastinum to the descending aorta suggesting rupture of the pseudoaneurysm and formation of a mediastinal hematoma ().\nThe patient was taken to the operating room where he was found to have an extensive tear of the proximal innominate artery about one centimeter from its origin. The rupture was contained by the adventitia and surrounding soft tissue. The patient received an ascending aortic to innominate artery extra-anatomic bypass graft, and drains were placed to reduce the mediastinal hematoma. He was evaluated by geneticists postoperatively who suspected a connective tissue disorder. High on the differential was vEDS given his exam exhibiting flexible digits, easy bruising, and normal aortic root dimension. The patient was discharged home on postoperative day five, and nearly three weeks later, genetic testing confirmed a pathogenic COL3A1 mutation diagnostic of vEDS. |
A 53-year-old man presented with a history of an erythematous irregular plaque on the left leg and foot since birth that had gradually increased in size with mild pruritus. While seeking medical treatment at many different hospitals, his disease was always misdiagnosed as psoriasis or epidermal nevus. Oral antihistamines and locally potent steroids had no apparent effect. The patient finally gave up on medical treatment for financial reasons.\nSeven years ago, a red papule developed in the lesion and continued to grow until it became an evident tumor. Physical examination revealed a 5 × 5 × 4 cm ulcerated cauliflower-like tumor on the medial side of the left heel, accompanied by some purulent discharge. The discharge was located in a scaly hyperkeratotic erythematous plaque with central atrophy surrounded by a well-defined, slightly raised, hyperkeratotic wall (Fig. ). There was no family history of similar lesions. The pathological results were SCC and porokeratosis. The diagnosis of SCC arising from giant porokeratosis was reached. The patient received skin grafting after surgical local excision (Figs. and ), but the patient refused treatment for the giant porokeratosis. The patient did not follow advice of the medical team to attend regular follow-up.\nNew malignant cells were found in the same region where the first tumor was discovered and the clinical manifestations were also almost the same as previously (Figs. and ). The area of the porokeratosis did not change. The total size of porokeratosis was about 50% of the skin area of the left calf and foot. The size of the new tumor was about 4 × 3 × 2 cm. The movement of the left ankle joint was normal and blood flow at the end and the skin felt normal. Routine blood tests, biochemical examinations, and chest X-ray were all normal, and no evidence of immunosuppression was detected. The remaining cutaneous and systemic examinations were all within normal conditions. Biopsy of the tumor showed characteristic features of porokeratosis and well-differentiated SCC (Figs. and ). Positron emission tomography and computed tomography (CT) showed that 18F-fluorodeoxyglucose metabolism in the left leg was increased and the local recurrence of the tumor with multiple lymph node metastasis was considered. The patient was referred to the department of bone oncology for amputation of the middle and lower left thigh. The operation was successful and the incision healed well. The patient was regularly followed up in the department of bone oncology. In the recent follow-up, the patient was able to walk with artificial limb, and color Doppler ultrasound showed no significant enlargement of the left inguinal lymph nodes. There was no abnormality in pulmonary CT |
Our patient, a 67-year-old Caucasian man, presented in the morning to the emergency department complaining of a sudden onset of excruciating right-sided arm and neck pain radiating to his head, followed by two episodes of vomiting. Both arms had reduced power from the shoulder distally. He complained of weakness in his legs, but denied any recent trauma, falls or loss of consciousness. On initial examination, shoulder abduction and adduction were absent, and flexion and extension of the elbow joint 2/5 on the Medical Research Council (MRC) power scale. Power in the lower limbs was normal. All modalities of sensation were intact bilaterally in the upper and lower limbs. No cranial nerve abnormalities were detected.\nThe patient had recently been diagnosed with hypertension and type 2 diabetes. His blood results on admission showed no abnormalities apart from a high glucose level consistent with untreated diabetes. A computed tomography angiogram showed no signs of thrombosis or dissection of the aorta. A spinal MRI scan showed a high-intensity lesion in the anterior two-thirds of the gray matter extending from C3 to C5 (Figures and ). He was diagnosed with anterior spinal artery ischemia secondary to dissection of a distal vertebral artery. He was started on 300 mg aspirin, and his case was reviewed by both a physiotherapist and a diabetic specialist nurse while he was an in-patient. Within three days of presentation, power in both of his arms had improved (MRC score 4/5), except for abduction of his right shoulder, which he could not lift above the horizontal position.\nSpinal cord infarction and ischemia are rare and often difficult to diagnose, but they represent important differential diagnoses of acute spinal symptoms. This case presentation describes an interesting presentation of ASCIS which differs from the classically described symptoms, insofar as the patient had no clinically detectable sensory deficit. This disorder is also associated with significant morbidity and mortality. In this case, the prognosis was favorable. This led us to a review of the literature on the prognosis and outcome of acute spinal cord ischemia. |
The 11-year-old female patient with motor and mental retardation was born by Cesarean section for breech presentation at term. She kept her head steady at 8 months of age and sat without support at the age of three, crawled at the age of four and started to walk at the age of five. Subsequently, she has gradually developed a gait ataxia and required the assistance of a walker and then she became unable to walk. She had her first seizure when she was 6 months old. First valproic acid was started and then it was switched to lamotrigine. The seizures were taken under control by lamotrigine and the treatment was discontinued following two years of seizure-free period of time. It was reported that she was unable to talk in sentences but she could speak a few words and she was partly able to understand. In the neurological examination, she was capable of forming words in a dysarthric pattern. She was not oriented and poorly cooperative. Gross examination of the cranial nerves revealed no abnormality. Muscle strength was determined as 4/5 in the proximal parts of upper extremities and 3/5 in the distal parts and as 3/5 in the proximal parts of lower extremities and 0/5 in the distal parts. Muscle tone was reduced. Sensory and cerebellar tests could not be performed. Deep tendon reflexes were absent and plantar responses were extensor. Previous routine blood biochemistry and hematological tests were within normal limits. Amino acid levels were found to be within normal limits in an AA analysis using tandem MS (LC-MS-MS) method. C8/C12 ratio was found to be mildly elevated in the acylcarnitine/carnitine analysis; however, the result of the repeat test was normal. Serum levels of vitamin E, AFP, lactate, IgA, IgE, IgG, and IgM were found to be within normal levels. Urine organic acid assessment revealed an excretion of 50 mmol/mol of succinic acid. The excretion of oxalic acid was equal to the internal standard and the excretion of homovanillic acid and vanillylmandelic acid was equal to half of the internal standard along with elevated excretion of pyruvic acid, 3-OH isobutyric acid, ethylmalonic acid, adipic acid, 3-indol acetic acid, and 3-OH propionic acid and trace amount of erythro 4,5 diOH hexanoate lactone, tiglylglycine, and methyl citrate. The excretion of other organic acids was within normal limits. Increased SCA-specific CAG repeat was not found in any of the SCA 1, 2, 3, 6, and 7 loci. Personal-social development was determined at the level of 18.5 months of age, fine motor skills were found at the level of 14–19 months, language skills were found at the level of 22–30 months of age, and gross motor development was found to be at the level of 12 months in the Denver II developmental screening test. ECG and echocardiography tests were normal. Previous EEGs reported a slow background activity and sharp waves in the right temporooccipital regions and some of them were reported as normal. Motor nerve conduction studies were normal in the lower extremities and no response could be obtained from the sural nerve in the EMG which was interpreted as a technical issue. Cerebellar atrophy was reported in the MRI scan of the brain (). The repeat EEG was normal. Sensory nerve action potentials could not be obtained from the sural and superficial peroneal nerves and sensory nerve action potential amplitudes of the median and ulnar nerves were reduced in the repeat EMG study. Motor conduction studies were normal. The patient had scoliosis concave to the left. |
A 79-year-old woman reported to the emergency center with a history of recurrent epigastric pain and nausea for 2 weeks. She had no underlying diseases other than hypertension. However, she had visited the emergency room previously with recurrent epigastric pain and nausea. There was no history of trauma. When reviewed, she denied any of the following: diaphoresis, shortness of breath, constipation, diarrhea, previous surgery, and use of non-steroidal anti-inflammatory drugs and alcohols. On physical examination, her vital signs were stable. Abdominal examination revealed upper abdominal distension without rebound tenderness or signs of peritoneal irritation. Normoactive bowel sounds were noted. Laboratory testing revealed a moderately elevated white cell count of 14,500/ml with 91% segmented neutrophils.\nA plain abdominal radiograph revealed a large air bubble sign in the left upper abdomen (). A contrast-enhanced abdominal computed tomography revealed a markedly distended stomach; the transposition of the gastroesophageal junction and gastric antrum confirmed a recurrent or chronic state of mesenteroaxial gastric volvulus (). A barium meal study revealed the presence of the antrum folded over 180° located above gastroesophageal junction (single study). After the patient consumed a foaming agent for a double study, the gastric antrum and gastroesophageal junction returned to their normal position, the gastric antrum returning to its position above the gastroesophageal junction within 2 to 3 minutes. There was no duodenal passage disturbance ().\nAfter insertion of an endoscope and gentle air insufflations on entering into the gastric lumen of the endoscope shaft, abnormal rotation of the gastric axis was observed. While removing the previously inserted endoscope, the axis recovered to the normal direction (). After endoscopic reduction, the patient felt an improvement in her symptoms for about 24 hours. However, the symptoms recurred after that, due to which surgical treatment was planned.\nLaparoscopic surgery was performed under general anesthesia. The surgeon stood on the right side of the patient. The umbilical port for the camera was prepared with the open technique. Pneumoperitoneum was created with carbon dioxide and intracorporeal pressure was maintained at 12 mmHg. Three 5-mm trocars were placed.\nThere was no proof of a hiatal hernia. The spleen had no redundancy, but the 1st and 2nd duodenal portions showed redundancy. Reduction of the gastric volvulus was performed with two laparoscopic graspers through traction of the greater curvature of the stomach. The greater curvature of the stomach was sutured to the abdominal wall by using laparoscopic suture techniques. The stomach was lifted up to the abdominal wall to check the optimal point of the gastropexy. Four prolene 2-0 sutures were placed along the greater curvature of the stomach from 5 cm above the pylorus to the lower body. The gap between sutures was about 3 cm. Four 3-mm skin incisions were made with a no. 11 blade to insert an endo-closure to bring out the prolene suture (). The pneumoperitoneum was slightly released to 5 mmHg, and the prolene sutures were tied and firmly held in their positions without any excessive traction ().\nOn postoperative day 5, an upper gastointestinal study confirmed reduction of the patient's stomach (). The patient did well in the postoperative period and was discharged at postoperative day 7. She was followed up for 6 months and showed no evidence of recurrence, either radiological or symptomatic. |
The patient is a 36-year-old male with bicuspid aortic valve and history of IV drug use (which he initially denied). He presented to another hospital approximately one week after developing a diffuse rash, generalized muscle aches, profound weakness, fevers, and chills. At that time, he was diagnosed with an upper respiratory infection and was discharged from the emergency room on oral antibiotics. After five days he returned back to the same hospital with complaints of persistent high fevers and was admitted. During his stay, he was found to have 4/4 positive blood cultures prompting a transfer to our hospital for further evaluation and management.\nHis physical exam on presentation was significant for Janeway lesions as well as multiple vasculitic lesions on his fingers and toes () as well as a grade II/IV diastolic murmur. IE was suspected. Blood cultures were obtained and he was promptly started on intravenous Ceftriaxone and Vancomycin. At the time of admission the patient stated that he had a peripherally inserted central catheter placed three months before for treatment of non-Hodgkin's lymphoma at a neighboring hospital that was removed six days prior to presentation. He later admitted to an ICU nurse that the IV line had been inserted by a friend in a hotel room for intravenous injections of illicit drugs.\nBlood cultures from the previous hospital grew MSSA. Repeat bacterial and fungal cultures at our institution came back negative. Initial ECG showed probable sinus tachycardia with first-degree atrioventricular block (). Transesophageal echocardiogram (TEE) demonstrated a bicuspid aortic valve with multiple mobile echo densities along both the anterior and posterior leaflets with the largest one measuring 1.8 cm ().\nOvernight the patient was noted to have arrhythmias on telemetry and a repeat ECG showed new complete heart block (). The patient was then taken to the operating room (OR) emergently where he had an aortic valve replacement with bovine pericardial prosthesis, pericardial patch repair of the aorto-left atrial fistula with a St. Jude Medical bovine pericardial patch, and removal of infected debris from his tricuspid valve and mitral valve. Intraoperative histopathological results of the aortic valve indicated marked acute inflammation, fibroinflammatory debris, coccoid bacteria, and calcifications. The tricuspid valve was also involved with fibroinflammatory debris consistent with endocarditis. Cultures of the specimens grew out MSSA and antibiotics were changed to Cefazolin. The patient had an uncomplicated postoperative course and was discharged one week later with a plan of a six-week course of intravenous Cefazolin and close outpatient follow-up.\nThe patient missed his initial two follow-ups with his infectious disease (ID) doctors and there was concern for recurrent IVDA which he denied. After multiple attempts to reach him he started to follow up and became routine in his treatment. In the outpatient setting he also had repeat blood cultures taken at 3 weeks which came back negative. Six weeks after discharge he complained to his cardiologist of night sweats, fatigue, and shortness of breath. A repeat transthoracic echocardiogram was performed showing new vegetations over the bioprosthetic aortic valve with an abscess cavity and fistulization into the right atrium, moderate/severe tricuspid insufficiency, presence of ventricular septal defects, and new vegetations in the mitral valve. He was started empirically on Cefazolin with a continuous antimicrobial infusion to maintain adequate minimum inhibitory concentration and Rifampin. Repeat blood cultures (bacterial and fungal) were negative. He was taken back to the operating room where he had a redo aortic valve replacement with a Carpentier-Edwards ThermaFix bovine pericardial bioprosthesis, closure of the VSD, and subaortic fistula into the right atrium and into the left atrium using a St. Jude Medical bovine pericardial patch. The aortic bioprosthetic valve grossly was a tricuspid porcine valve measuring 3.7 cm (diameter) × 1.5 cm (thickness) with a tan white smooth surface with green sutures attached. Histopathological examination of the valve and fistula showed fibroconnective tissue with associated foci of inflammatory exudates, cultures and staining of which were negative for bacteria and fungi. He was eventually discharged on oral Ciprofloxacin and Rifampin for a total 6-week course.\nOne week after discharge he developed symptoms of heart failure including shortness of breath and nocturnal dyspnea. He had a repeat echocardiogram that showed a prosthetic valve vegetation with a large aneurysmal membrane between the prosthesis and mitral annulus and evidence of left ventricular outflow tract left atrial fistula with severe regurgitation. A ventricular septal defect was present with left ventricular outflow tract right atrial flow and another vegetation was seen over the anterior mitral valve. Blood cultures (bacterial and fungal) were taken at the time both of which were negative and he was empirically started on Vancomycin, Gentamycin, Cefepime, Rifampin, and Micafungin. The patient was then taken back to the OR for the final time where he had a St. Jude mechanical aortic valve replacement with debridement of the other valves. Intraoperative histological analysis showed fibroconnective tissue that was negative for bacterial and fungal staining and cultures as well as negative for 16sRNA and 18sRNA. The patient was then stabilized and discharged on Rifampin plus Vancomycin for a total course of 6 weeks and Gentamicin for 2 weeks. Upon discharge he followed with his doctors regularly and did not have any further cardiac complications. |
A 72-year-old woman (40.3 kg, 139 cm) was referred to our pain clinic for the treatment of low back pain after two back surgeries. She had first undergone back surgery [posterior lumbar interbody fusion (PLIF at L4–5) plus spinal stabilization (L3)] for lumbar spinal canal stenosis 4 years prior to the current presentation. Two weeks after the initial surgery, she underwent reoperation because of screw placement errors, and her symptoms disappeared after surgery. However, her low back pain recurred after a fall 5 months before the current presentation. Paralysis of the lower limbs was not apparent after this episode. A sensory disturbance that had existed before the surgeries remained unchanged. No new lesions such as a lateral recess or foraminal stenosis, herniated nucleus pulposus, or fracture were found on radiographs or magnetic resonance images (Fig. ). The previous medical institution prescribed acetaminophen and tramadol for low back pain and performed a caudal epidural block with 5 ml of 1% lidocaine and dexamethasone 1.65 mg. However, neither treatment provided pain relief, and the patient was referred to our pain clinic. She had several comorbidities, including diabetes mellitus, hypertension, renal dysfunction, hypothyroidism, rheumatic arthritis, and gastroesophageal regurgitation, and was prescribed 27 different drugs by clinicians from five different facilities. Accordingly, we decided not to use additional medication for first-line therapy because of polypharmacy concerns and renal dysfunction and performed bilateral ESP block with the patient in the prone position. A convex type transducer was placed in a longitudinal orientation at the level of the L2 transverse process, 3 cm lateral to the midline. The L4 and L5 transverse processes could not be identified because of the echogenic artifacts due to the surgical instruments. The posterior surface of the L2 transverse process was identified using an aseptic technique. After the puncture point was anesthetized with 2 ml of 1% lidocaine, the needle was inserted in the plane of the ultrasound beam in a cephalad to caudal direction. Following confirmation of the needle tip on the surface of the transverse process of L2, 20 ml of 0.1875% ropivacaine (fourfold dilution of commercial product) was injected into the target plane between the erector spinae muscles and the transverse process (Fig. ). This procedure was repeated on the contralateral side. Twenty-five minutes later, the patient reported a warm feeling in her low back and almost complete relief from pain, which was approximately < 10% of its original severity. There was an area of diminished cold sensation extending from T12 to L5, with no change in the anterior and lateral abdomen. Unfortunately, the pinprick test was not performed. Pain relief lasted for approximately 10 h after the initial block. We repeated this procedure for a total of three times in a month. Finally, the patient reported that her daily baseline level of low back pain had diminished to < 40% of its original severity. She was satisfied with the extent of pain control and did not wish to undergo further treatments such as epiduroscopy or spinal cord stimulation (SCS). |
A 35-year-old male patient, with persistent AF refractory to the pharmacologic treatment underwent RFA in our hospital. As a routine practice in our centre, the patient was assessed pre-procedurally by transesophageal echocardiography (TEE) on the day of procedure to delineate anatomy of pulmonary veins and left atrium (LA) and to exclude LA appendage thrombus. During RFA procedure all four PV were individually isolated under guidance of intracardiac echocardiography. RF energy was delivered using a conventional 4 mm and 8 mm tip ablation catheters and a power setting of 30 W, 50 °C around a circular decapolar catheter located at the pulmonary veins ostia. Application of the RF was immediately interrupted when microbubbles were detected by the intracardiac echocardiography (ICE). After a curative ablation therapy patient was kept on aspirin to prevent pulmonary venous or arterial thrombosis and recurrence of AF. Ambulatory follow-up cardiac computed tomography (CT) angiogram was done 3 months following RFA and showed approximately 60% left superior PVS but no intervention was performed because the patient was asymptomatic and he was kept on oral anticoagulation ().\nTwo months later, the patient developed cough associated with hemoptysis, mild intermittent fever, mild left-sided pleuritic chest pain and shortness of breath on exertion. He visited the primary health centre close to his residency where chest radiography was done and showed left upper lobe poorly marginated opacities and minimal left pleural effusion. Further laboratory studies were done to rule out pulmonary tuberculosis (TB) which were within normal limits. A definitive diagnosis was not made and the patient was given broad spectrum antibiotics and referred to pulmonology clinic in our hospital for further investigation.\nPatient presented to our hospital 6 months after ablation without improvement in the symptoms. Non-enhanced CT was done and showed increased parenchymal attenuation and multiple peripheral patchy consolidations in the apico-posterior and anterior segments of left upper lobe associated with minimal left pleural effusion (). Cryptogenic organizing pneumonia (COP), chronic eosinophilic pneumonia (CEP), fungal infection (pulmonary aspergillosis), lung cancer and primary pulmonary lymphoma were suggested as differential diagnosis and ultrasound-guided aspiration of the left-sided pleural effusion was carried out and the obtained specimen was fluid of serous nature. Besides that, lung biopsy was also performed and the histopathologic examination revealed surprisingly intimal hyperplasia associated with multifocal haemorrhagic infarction due to PVO and hypertensive pulmonary arteriopathy. After that contrast-enhanced CT scan was performed with 3D reconstruction and manifested clearly an occluded left superior pulmonary vein (LSPV) (). Occlusion was confirmed by conventional angiography. Ventilation/perfusion scan demonstrated absent perfusion of the involved lung parenchyma and left upper lobectomy was warranted. |
A 45-year-old Chinese man presented to our hospital due to 1 year history of dyspnea on exertion, angina. Physical exam revealed an systolic murmur in left second intercostal space as well as mild degree hepatomegaly. EKG showed marked left ventricular hypertrophy. Echocardiogram confirmed severe degree aortic stenosis with congenital bicuspid aortic valve. Complete blood count showed mild-moderate degree thrombocytopenia. Routine coagulation screening test (including PT, APTT as well as fibrinogen) was also unremarkable with normal plate function and further bone marrow biopsy examination revealed no obvious abnormalities. His liver function was also normal and further abdominal ultrasound also precluded the pathology of the live.\nThis patient is then underwent open-heart aortic valve mechanical valve replacement under general anesthesia and cardiopulmonary bypass (CPB). Heparin resistance was noticed during CPB and resolved after administration of the fresh frozen plasma. He was extubated 24 hours after the procedure with stable hemodynamic status. Warfarin was administered orally for since 48 h after surgery to maintain the international normalized ratio (INR) at 1.5–2.0. In third postoperative day, patients developed pulmonary infection and increased body temperature with positive sputum culture of bacteria klebsiella pneumonia. Then after several days of intravenous antibiotics, his symptom relieved. On the fifth postoperative, edema in lower extremities was well as obvious ascites were noticed in this patients. Best side echocardiogram reveal normal mechanical valve function with LV ejection fraction 65%. Abdominal ultrasound revealed thrombosis in proximal portion of the portal vein with no blood flow signal as well as dilated distal branch of portal vein system (Figure ). Contrast enhanced CT also confirmed portal vein thrombosis formation in this patient (Figure ). Gastroscopy examination showed the obvious esophageal and gastric varices formation. Further coagulation screening text confirmed ATIII deficiency in this patient with only 30% of normal reference valve, this level still maintained 3 month after the surgery. Conservative treatment strategy was chosen for this patient including increased intensity of anti-coagulation (combining lower molecular heparin as well as oral warfarin) as well as endoscopic variceal ligation. Patient’s symptom gradually improved and repeated contrast enhanced CT scanning showed the formation of portal venous collateral circulation. This patients then underwent open abdominal thrombectomy 1 month after the cardiac procedure and recover well. |
A 64-year-old female presented to the emergency department secondary to shortness of breath, cough, and associated fever. She had a past history of chronic obstructive pulmonary disease, left upper lobe cavitary lung lesion, and microcytic anemia. The patient was on daily oral steroids for the last several years due to poorly controlled COPD and had recently been released from the hospital two weeks before for a left lower lobe pneumonia. At the time of her prior admission, she was started on vancomycin and aztreonam for her pneumonia and was ultimately discharged on levofloxacin for ten days.\nDuring her emergency department course, her chest radiograph revealed a worsening left lower lobe infiltrate which was later confirmed on computed tomography of the chest. The patient had worsening hypoxia during her course and was eventually placed on BIPAP therapy, and she was started on intravenous vancomycin, levofloxacin, and fluconazole for a presumed hospital-acquired or fungal pneumonia given her recent hospital admission and cavitary lung lesion. Prior to admission, she had no physical exam findings to suggest a fungal infection. She was admitted to the hospitalist service for further evaluation and management.\nWhile hospitalized, the patient continued antibiotic and antifungal therapy, and on day two, aztreonam was added due to a worsening clinical picture. The following day, the patient underwent consultations from infectious disease, pulmonology, and cardiothoracic surgery due to her worsening clinical status and pneumonia with associated cavitary lung lesion. Following consultations, the patient underwent a fiberoptic flexible bronchoscopy with bronchoalveolar lavage which showed a large mucous plug obstructing the left main bronchus but no associated lesions. Cultures from the bronchoalveolar lavage eventually grew Nonomuraea solani, Candida glabrata, and Candida dubliniensis.\nFollowing a protracted hospital course of nine days, the patient was discharged home with cefpodoxime 400 mg twice a day for ten more days and was instructed to follow up with infectious disease within the next two weeks. However, the patient eventually presented to the emergency department one month later with a left-sided empyema status after wedge resection of the cavitary lesion that grew Corynebacterium amycolatum and Staphylococcus hominis spp. on cultures. |
A 54-year-old man presented with cardiac arrest after choking on food at home. He had been suffering from dementia and right-sided weakness after a traumatic intracranial hemorrhage 7 years prior. He received immediate bystander CPR and was brought to our emergency department (ED). Asystole was documented at admission, and the resuscitation attempt was continued in the ED. After endotracheal intubation, a TEE transducer was inserted to find the cardiovascular cause of cardiac arrest. TEE revealed no cardiac contraction. No structural cardiac abnormality or pericardial effusion was noted. A focal separation of the intimal layer at the anterior wall of the descending thoracic aorta (DTA) was seen 10 cm from the distal portion of the aortic arch (). The DTA was compressed and deformed repetitively whenever the chest was compressed (). After 19 minutes of resuscitation, the patient regained spontaneous circulation and the TEE transducer was removed. His systolic blood pressure rose to 130 mmHg. Ten minutes after restoration of spontaneous circulation (ROSC), his systolic blood pressure dropped to 80 mmHg. Transthoracic echocardiography showed a newly developed pericardial effusion with diastolic collapse of the right ventricle, suggesting cardiac tamponade. Bloody pericardial fluid was drained during emergency pericardiocentesis. Follow-up TEE was performed to investigate the origin of pericardial effusion. TEE revealed an intimal flap, not seen on the first TEE, in the DTA (). The intimal flap was observed between the distal portion of the aortic arch and 11 cm down from the aortic isthmus ( and , ). Thoraco-abdominal angiography with a multi-detector computed tomography (CT) scanner (Brilliance 64; Philips Medical Systems, Cleveland, OH, USA) revealed aortic dissection of the DTA with no involvement of the ascending and abdominal aorta (). Bloody pericardial effusion was thought to be one of the complications from CPR because there was no evidence of dissection of the ascending thoracic aorta.\nThe patient was moved to the intensive care unit and received intravenous labetalol to control heart rate and blood pressure. Therapeutic hypothermia with intravascular cooling (Coolgard 3000 Intravascular Temperature Management system; Zoll Medical, Chelmsford, MA, USA) was performed. On the 4th day of hospital admission, he remained comatose and his Pittsburgh Brainstem Score was 6. On the 5th day of hospital admission, an electroencephalogram showed diffuse slowing waves. On the 13th day of hospital admission, the patient died of severe hypoxic brain injury. |
A 43-year-old woman with multiple drug allergies (streptomycin, tetracycline and metamizole) required laparoscopic right oophorectomy for incidental ovarian cyst. 48 Hours after the operation, she complained of diffuse left abdominal pain and tachycardia and hypotension were documented and tachycardia and hypotension, requiring vasoactive drugs. Physical exam revealed a diffuse cellulitis on the left abdominal wall that rapidly spread to the vagina a rapid caudal extension to the vagina. CT scan showed pneumoperitoneum and thickening of the abdominal wall in the left flank (). She went to the OR, the exploratory laparotomy demonstrated diffuse fecal peritonitis with two small bowel perforations, requiring primary repair with surgical suturing and without small bowel resection. Empirical antibiotic treatment with meropenem an cliindamycin was started.\nOn 4th POD, fasciitis progressed to the left flank, thigh and gluteal area gradually extending to the right hemiabdomen (). Surgery was indicated for extensive fascia resection and microbiologic specimen for culture () 48 hours after thigh involvement (). Samples taken during the repeated surgical debridement revealed the presence of Candida albicans intrabdominal sample and antifungeal therapy was started. The patient was uneventfully recovered One month after the onset of symptoms (), reconstructive surgery was scheduled for skin grafting (). Shortly after the reconstructive procedure patient presented a massive upper gastrointestinal tract bleeding requiring emerging gastroscopy. Hemodynamic instability led to cardiac arrest, requiring 20 minutes of advanced CPR and 48 hours later death due to multiorgan failure.\nSecond case: a 77 year-old man with hepatitis C virus infection was admitted for an scheduled left hemicolectomy in the setting of colon cancer at the splenic flexure. On postoperative day 4 after the surgery, skin lesions appeared in both flanks and he was diagnosed with an allergic reaction. He received systemic corticosteroids and antihistaminic without clinical improvement. In the following 24 hours, his conscious level decreased gradually, he presented fever and cardiac arrest and recovered after 15 minutes of CPR. Sepsis was suspected and Meropenem was empirically started. CT scan was performed without any relevant findings. Skin erythema progressed, affecting both flanks and thighs (); blisters and ecchymosis appeared after few hours and surgical exploration documented an extended fascial necrosis. The family didn’t allow more invasive procedures and the patient died after 6 days. |
Case 1: A 58-year-old man was diagnosed with middle thoracic esophageal cancer in our hospital after being admitted for dysphagia (). On 25 July 2016, he was treated with radical resection of esophageal cancer via right thoracotomy and median laparotomy. The whole procedure was successfully performed. However, from the 3rd day, the patient suffered from fever and the volume of thoracic tube drainage increased from 500 mL up to 1500 mL per day. The drainage fluid gradually turned from clear to filthy with gas and saliva. On the 10th day, an endoscopic examination showed large gastric wall necrosis of approximately 4 × 4 cm2 around the anastomosis. The patient suffered from increasing sepsis and multiple organ failure. On 5 August 2016, emergency re-operative explorative surgery was performed. We discovered that an anastomosis was located above the aortic arch in the apex of the right cavity. There was full-thickness gastric wall necrosis near the anastomotic gastric conduit tip. The necrosis bandwidth was approximately 4 cm, with a serious pleural and mediastinal abscess. Therefore, we debrided the abscess, resected the nonviable gastric necrosis, flushed the thoracic cavity, and placed several drainage and flushing tubes. We considered that repair or redo of esophagogastric anastomosis was a high risk. Therefore, we resected the gastric necrotic wall using a linear cutter stapler and returned the viable remnant gastric conduit to the abdominal cavity through the transhiatal approach. A feeding jejunostomy was placed by laparotomy and the proximal esophagus was exteriorized by the cervical subcutaneous route. Postoperative ventilator-assisted breathing, continued blood purification, broad-spectrum antibiotics, chest flushing and drainage, and parenteral and enteral nutrition were provided to the patient, who had a fever and coma for up to 48 hours. After this time, sepsis was gradually controlled. Images of end-esophageal exteriorization and reconstructive surgery for this patient are shown in and . At 63 days after the second operation (8 October 2016), the patient underwent successful retrosternal colonic interposition, where a colon conduit was harvested from the left side. A postoperative examination showed no obvious symptoms and restored oral intake. |
A five-year-old male with no medical or ophthalmologic history presented with one month of a progressively enlarging right facial mass. There was no prior trauma. This painless mass was firm to palpation and measured 3 cm in greatest dimension on initial presentation. Computed tomography (CT) of the orbits revealed a lytic osseous-based mass arising within the right zygoma (Figures and ). The lesion exhibited a nonossified component within the orbit and exerted mass effect on the globe without evidence of scleral invasion. Based on these imaging characteristics, the primary differential diagnosis was Ewing's sarcoma but metastasis was also considered. Further systemic workup with CT of the chest, abdomen, and pelvis as well as a technetium bone scan failed to demonstrate other lesions or evidence of a primary malignancy. Fine-needle biopsy of the mass was inconclusive, showing only compact and woven bone, and the patient was referred for incisional biopsy. Approximately two months following symptom onset, the lesion had continued to enlarge and measured 5 cm in the largest dimension. An incisional biopsy was performed of just the soft tissue component and was again nondiagnostic and without malignant cells.\nBased on these results, the patient was referred to our oculoplastic service for further management. Ophthalmic examination revealed best corrected visual acuity of 20/25 in the right eye and 20/20 in the left eye with normal stereopsis. The right bony orbital mass was noted () with relative proptosis of 2 mm of the right eye. There was no relative afferent pupillary defect or deficit of extraocular motility. The rest of his ophthalmic examination was normal. Magnetic resonance imaging (MRI) of the orbits was significant for a 5.3 cm mass with suggestion of intralesional vascular channels (Figures and ). A third biopsy was performed via lateral orbitotomy with excision of a 5 cm × 6 cm bony mass. Intraoperatively, the mass was noted to be composed of numerous cystic spaces containing blood vessels and sanguineous material (). Complete excision necessitated sacrifice of portions of the lateral and inferior orbital rims. The remaining intact bone was burred smooth, and a reconstructive implant was not necessary. Bone wax, diamond burr, cautery, and TISSEEL fibrin sealant (Baxter Healthcare Corporation, Westlake Village, CA, 91362 USA) were all employed to achieve hemostasis. The patient was typed and cross-matched due to approximately 150 milliliters of blood loss; however, given he remained hemodynamically stable both during and after surgery, ultimately no blood transfusion was administered. The final histopathology revealed reactive intratrabecular spaces containing numerous proliferated, small capillary-sized and dilated thin-walled blood vessels. The single layer of endothelial lining in the proliferating capillary vessels and blood-filled channels within bone confirmed a diagnosis of interosseous capillary hemangioma (). Cytogenetic testing revealed normal karyotype supporting a diagnosis of intraosseous hemangioma. Postoperative examination demonstrated acceptable cosmesis (). The patient has maintained best corrected visual acuity of 20/20 OD and 20/20 OS with full extraocular motility and without clinical evidence of recurrence eight years following excision. |
A 47-year-old man with a long-term heavy smoking history presented to the emergency room with an one-month history of progressive dyspnea on exertion, productive cough, marked weight loss, profuse diaphoresis at night, neck swelling and dysphagia in early October 2008. A chest film revealed a large soft tissue density in the right upper lobe of the lung and remarkable widening of the upper mediastinum. A subsequent chest computed tomography disclosed a large space-occupying lesion in the right upper lobe of the lung encasing the superior vena cava and the right pulmonary artery (fig. ). Bronchoscopic examination revealed a picture consistent with external compression in the right trachea where the mucosa presented irregularities, narrowing of the orifice of the right upper lobe with suspicious tumor tissue. The pathological report of the tissue biopsy proved it to be small cell carcinoma of the lung. The patient was hospitalized and received radiotherapy to relieve the superior vena cava syndrome, and prophylactic whole brain radiation was undertaken as well. He favorably tolerated six successive courses of chemotherapy with VP-16 and cisplatin later on and had regular follow-ups in the outpatient clinic with a quite satisfactory general performance and relatively good control of the primary lung lesion in the following 4 years.\nIn November 2011, a follow-up chest computed tomography disclosed a small, ill-defined tumor (1.8 × 1.4 cm) in the left adrenal area (fig. ). This lesion was initially interpreted as a non-functioning adrenal incidentaloma with no remarkable clinical relevance and was left for observation. However, the patient, who was free of symptoms, underwent a new chest computed tomography follow-up 6 months later (May 2012) and surprisingly a remarkable enlargement of the previously suspected left adrenal tumor was noted (3.3 × 2.5 cm) (fig. ). A distant metastasis from the lung cancer to the left adrenal gland was then considered and the patient was hospitalized again for surgical intervention by the urologists. Retroperitoneoscopy was initially performed to localize the suspicious metastatic left adrenal tumor. Unexpectedly, the surgeons found an intact left adrenal gland, and the tumor was actually arising from the posterior wall of the gastric body and penetrating into the retroperitoneal space close to the left kidney through a defect in the posterior peritoneum, mimicking an adrenal tumor. Laparotomy was immediately undertaken instead, and wedge resection of the tumor from the stomach was performed accordingly. The pathological analysis of the resected tumor revealed identical pictures as the primary lung lesion (immunohistochemical stain positive both for TTF-1 and CD-56) (fig. ).\nAfter the operation, the patient received further chemotherapy with etoposide and cisplatin and had a relatively good general performance in the meantime. In May 2013, exactly 1 year after the abdominal surgery, a follow-up computed tomography showed several metastatic tumors in the liver and additional chemotherapy with topotecan was instituted. Although the patient underwent an eventful clinical course with several episodes of pancytopenia, the chemotherapy could be finally completed and he currently still has regular follow-ups at the outpatient clinic 15 months after excision of the metastatic tumor in the stomach. |
A 65-year old male patient with early gastric cancer was transferred from Aruba to our institution. He had a 3-year history of black stools and anemia. His past medical history included multiple comorbidities: diabetes, chronic renal failure, alcoholic cirrhosis Child A, complete heart blockade and thrombocytopenia of unknown etiology. An upper endoscopy and biopsy revealed a well-differentiated intestinal type adenocarcinoma in the antrum. Endoscopic ultrasonography showed a hypoechoic, 3.2 cm neoplasm, without muscularis externa infiltration and reactive ganglia (). Endoscopic mucosal resection was chosen due to tumor size, stage and comorbidities of the patient. The tumor was fully resected without complications. At the end of the procedure the anesthesiologist had difficulty with ventilation and abdominal distention was observed (). He had a 128/91 mmHg blood pressure and 70 bpm heart rate. An endoscopic revision was done before finishing the procedure, without identification of any macroscopic perforation. A nasogastric tube was placed and therapeutic strategies to improve abdominal-wall compliance were instituted (changes in ventilation parameters, nasogastric suction, change to a supine position and removal of any strap over the abdomen). A plain abdominal radiography in the operating room showed a massive pneumoperitoneum (). Decision of a nonsurgical management was conducted and the patient was taken to the intensive care unit (ICU) for monitoring. The IAP measured by a trans-bladder catheter was 33 mmHg. Six hours after ending the procedure the patient developed dyspnea and anuria. The diagnosis of an abdominal compartment syndrome was established. Given the worsening status, interventional radiology evaluated the patient. A CT scan confirmed the massive pneumoperitoneum without intraperitoneal extravasation of contrast (a & b). A percutaneous decompression guided by CT scan was performed with a pigtail catheter G14 (c & d). Air was immediately released under pressure. Immediately after the procedure, the patient's symptoms and hemodynamic status improved. Diuresis returned after a few hours. The pigtail catheter was closed the first day after placement and taken out at the third postoperative day. Control CT scan revealed no evidence of pneumoperitoneum. Pathology report confirmed the resected specimen had free malignant cell margins and areas of high-grade and low-grade dysplasia. The patient was discharged from ICU at postoperative day 2 and discharged from hospital at postoperative day 5 without further complications. |
A 35-year-old Caucasian man was admitted to our hospital with a symptomatic resistant gastric MALT NHL in July 2003. He had a history of stage IEA (Ann Arbour staging stage I for Lugano staging system for gastrointestinal lymphomas) [] gastric MALT NHL previously diagnosed in February 2001. At that time, due to the presence of HP infection, he received amoxicillin omeprazole and clarithromycin as eradication treatment. Two months later, an upper gastrointestinal endoscopy (UGE) with multiple gastric biopsies revealed a complete clinical and pathological response.\nIn February 2002, the patient experienced a local relapse without evidence of HP and was therefore treated with three cycles of standard cyclophosphamide, oncovin, doxorubicin, prednisone chemotherapy, achieving a minimal response with disappearance of all symptoms. Three additional cycles were performed but final evaluation revealed the persistence of microscopic disease. CT scans excluded distant disease. The patient was asymptomatic and declined further treatment for 14 months but, in May 2003, an additional course of antibiotics was suggested because of the onset of local symptoms. No clinical and pathological benefit was attained, and the patient was therefore considered for a total gastrectomy, which he declined.\nIn July 2003, he received the anti-CD20 monoclonal antibody rituximab in a four-week schedule as a part of a phase II study for patients affected by resistant or relapsing gastric MALT NHL. After two months, a UGE revealed microscopic persistence of lymphoma again with the disappearance of related symptoms. A maintenance treatment with four additional monthly doses of rituximab was delivered until December 2003, but the presence of MALT lymphoma was confirmed by multiple gastric biopsies. Due to asymptomatic disease, we decided to observe the patient with close follow-up.\nIn May 2004, the patient became newly symptomatic and the UGE documented a disease progression ().\nPathological evaluation showed gastric mucosa heavily infiltrated by a dense population of small and medium-sized lymphocytes immunoreactive for CD20, which formed lympho-epithelial lesions within the gastric glands (). Interphase FISH using the LSI® MALT1 Dual Color, Break Apart Probe (Vysis, Inc., Downers Grove, IL, USA) showed split signals in most of the nuclei analysed. This pattern was consistent with the occurrence of an 18q21 locus translocation, involving the MALT1 gene (), that was further characterized as at (1118)(q21q21) by using the LSI® API2/MALT1 Dual Fusion Translocation probe (Vysis, Inc., Downers Grove, IL, USA) [].\nEndoscopic ultrasonography (EUS) showed hypoecogenic gastric wall pachynsis at the corresponding lesion, while total body CT scans and bone marrow biopsy excluded other disease localizations.\nThe patient was informed about the possibility of receiving RT on the stomach as a standard treatment after failure of the previous approaches, but he was concomitantly proposed to participate in a phase II study of RIT with Zevalin carried out in our institute for patients with resistant/refractory MALT NHL. Due to logistical problems and considering the possibility of performing RT even after Zevalin treatment, the patient signed the informed consent and was enrolled in the RIT study.\nBefore RIT administration, blood count was normal, hepatic renal and cardiac functions (evaluated by serum chemistry electrocardiography and echocardiography) showed no impairments.\nTreatment with 90Y ibritumomab tiuxetan (Zevalin) was preceded by rituximab 250 mg/sqm on day 0 and 8. On day 8, Zevalin was administered at the dose of 0.4 mCi/kg (maximum dose 32 mCi) with a 10-minute intravenous injection for therapy. 111In ibritumomab tiuxetan imaging dosimetry was not performed since it is not mandatory.\nClinical and haematological evaluations were performed weekly for 12 weeks, then every two months for six months and thereafter once every six months. If the platelet level dropped below 30 × 109/L, then the platelet count was performed three times a week for as long as it was below this level. Serum chemistry was monitored monthly for six months and then every six months.\nZevalin treatment induced a transient and reversible haematological toxicity characterized by grade III thrombocytopenia, grade IV neutropenia and grade I anaemia (NCI scale). Neither platelet nor red blood cell transfusions were necessary. Platelet and neutrophil count nadirs were achieved after five and six weeks from Zevalin administration and recovered in one and two weeks, respectively. Other non-haematological toxicity was absent.\nFour different endoscopic evaluations (UGE with multiple gastric biopsies and EUS) and total body CT scans were performed at two, four, six and 12 months from Zevalin administration, showing a clinical and pathological complete response (). In particular, gastric biopsies were characterized by small lymphocytes and plasma cells isolated in the lamina propria or forming small well-demarcated nodules (), with a normal pattern of the MALT1 and API-2 genes by interphase dual colour FISH (). |
A 39 year old male presented to the emergency department, in the month of May 2009, with complaints of right lower quadrant abdominal pain and low grade fever of 2 days duration. He was a chronic alcoholic since 10 years and had no other significant prior medical, surgical history, or any evidence of a traumatic event. On examination, the patient had tachycardia, and slight tenderness and guarding, localized to the right iliac fossa. The rest of the abdomen was non tender. His routine blood tests were within normal limits, with completely normal counts. His HIV and HBsAg tests were negative. An x ray of his abdomen (erect film) showed a ground glass appearance. Ultrasound examination of his abdomen however revealed features suggestive of terminal ileitis or ruptured appendix (caecal mural thickening, with minimum peri-appendicular fluid) with a normal liver. Clinical suspicion was of a recently ruptured appendix. The patient was taken up for an emergency laparotomy, via a right paramedian incision (considering his USG findings). Intra operatively, a 3 × 2 cm caecal perforation was present along the antero lateral wall with a dusky appendix attached to the caecum via a narrow base. There was no peritoneal contamination and the rest of the bowel appeared completely normal. The liver and spleen were normal and there was no lymphadenopathy. A right hemi colectomy with ileostomy and transverse colonic mucous fistula was done and the specimen was sent for a histopathological diagnosis(figure ). A peritoneal biopsy was also concomitantly taken. The histopathology reported features of tubercular granulomatous lesion with secondary acute infection with surgical margins showing non-specific inflammation, presence of caseation with langerhans giant cells(figure ) as well as acid fast bacilli-consistent with tubercular enteritis, in the caecum, with a completely normal ileum and ascending colon. Moreover, the peritoneal biopsy was found to be non specific, with no features of tuberculosis.\nWe then performed a retrospective analysis of our management effort towards the patient, the x ray chest was normal, mantoux test was negative, ESR was 18 mm at 1 hour, and sputum was negative(three samples). The patient was started on anti-tubercular therapy (DOTS Category 1 - incorporating 4 drugs, viz. isoniazide, rifampicin, pyrizinamide and ethambutol for initial 2 months of the intensive phase, and isoniazide and rifampicin for the next 4 months of the continuation phase), with satisfactory results as regards the improvement in the overall patient condition, with 6 kgs weight gain over two months. The patient became comfortable, ambulatory; Ileostomy was functional and viable and main wound healing occurred via secondary intention. The patient was followed up on a regular 2 weekly basis with ileostomy closure performed after 3 months, without incident. |
An 83-year-old male, who weighed 67 kg and was 170 cm tall, presented to our hospital in the spring of 2012 with a non-ST elevation myocardial infarction and congestive heart failure. He was referred for coronary artery bypass grafting (CABG) by the interventional cardiology after an angiogram demonstrated coronary disease not amenable to percutaneous intervention. Specifically, he had a significant triple-vessel disease which had progressed in the context of two previous angiograms with the placement of coronary stents in 1997 and 2000.\nHis past medical history included hypertension, dyslipidemia, a remote history of smoking, and of note, an episode of aspiration (of a carrot) at age 2 years that required a tracheostomy. Subsequent to his tracheostomy, multiple airway surgeries were completed over the following 8 years that resulted in significant supra and subglottic airway stenosis, as demonstrated on bronchoscopy approximately 10–15 years ago. As this stenosis did not impair his exercise tolerance, he elected to not pursue any corrective measures at that time.\nDue to his airway concerns, anaesthesiology took special precautions in attempting to intubate the patient for his coronary artery bypass grafting. Despite multiple complex manoeuvres and the assistance of multiple airway experts, oral endotracheal intubation was unsuccessful and the process was abandoned. He was admitted to our intensive care unit awake and alert for observation on oxygen via nasal prongs at 3 L/min, with saturations of 99%.\nAfter discussions between the cardiac surgery, interventional cardiology, anaesthesiology, and critical care teams and with consent from the patient, it was decided that an awake percutaneous tracheotomy would the best option to facilitate progression to CABG.\nOwing to the complex airway issues, this was deemed a high risk procedure leading to the careful selection of the procedural sedation. Typical agents such as benzodiazepines and neuromuscular blocking agents were deemed unsuitable as they would impair the patient's respiratory drive and protective reflexes, especially in the event of an unsuccessful procedure. The pharmacological characteristics of dexmedetomidine were felt to provide the optimal effects to safely perform the percutaneous tracheotomy with the least risk. Specific aspects of dexmedetomidine that made it an excellent fit for this procedure were the sedative, amnestic, and opiate sparing effects, with the maintenance of respiratory drive and protective airway reflexes.\nAfter confirming consent, the patient was prepared for tracheotomy. Preoxygenation was undertaken by administering 100% oxygen via face mask. Viscous lidocaine was applied topically to patient's tongue to reduce discomfort and gagging and upper airway topical anesthesia was obtained with atomized 2% lidocaine. A loading dose of dexmedetomidine 1 mcg/kg was infused intravenously (IV) over 20 minutes, followed by a maintenance infusion at a rate of 0.5 mcg/kg/hour. The prolonged loading time was used to reduce the likelihood of adverse cardiac effects developing. A bolus of 25 mcg of fentanyl IV was also administered. At this point, the patient was well sedated, but rousable to voice or physical stimulation, and was maintaining his airway and breathing spontaneously.\nUpon the completion of the loading dose, the patient was put in the supine position with neck extension supported by a bolster under the upper torso. The larynx and previous tracheostomy sites were identified. A video bronchoscope was inserted into the airway and positioned immediately below the larynx. At this point, the patient was noted to be uncomfortable and coughing, so the maintenance infusion of dexmedetomidine was increased to 0.8 mcg/kg/hr, and an additional 25 mcg of IV fentanyl was administered.\nThe position of the bronchoscope was confirmed with the transillumination of the airway and with the manipulation of the trachea. The anterior neck was prepared with chlorhexidine/alcohol solution. A site was chosen in the midline in the previous tracheostomy scar well above the manubrium and 1-2 cm below the cricoid cartilage (approximating the 3rd tracheal ring which was not clearly identifiable). The Ciaglia Blue Rhino percutaneous tracheostomy set was used. This entailed airway access with a 16-gauge needle, introduction of a J tipped guide wire via the needle, serial dilation of the tract, and insertion of a no. 6 Shiley cuffed tracheostomy tube loaded on the tracheostomy loading catheter. Bronchoscopic guidance was maintained throughout each step. The bronchoscope was then inserted into the airway via the tracheostomy tube confirming its position. Following the insertion of the tracheostomy tube, the cuff was inflated, the inner cannula was inserted, and ventilation was initiated. Adequate oxygenation and carbon dioxide clearance were confirmed. The tube was secured in place with two 0 silk sutures and tracheostomy ties. Finally, the patient was allowed to emerge from sedation.\nThe patient's hemodynamic measurements were monitored continuously throughout the procedure and are presented in . As expected a small degree of hypotension and bradycardia evolved and were easily managed with an IV infusion of norepinephrine. There were no episodes of oxygen desaturation.\nA few hours after the procedure, once he was fully recovered from the sedation, the patient reported that he did not recall the procedure, nor recall or feel any discomfort. He was very pleased with the whole procedure and was looking forward to having his coronary artery bypass grafting performed. When approached four days after his tracheotomy, he did not recall having had a conversation with the authors on the day of his procedure.\nTwo weeks following the insertion of the tracheostomy, when operating room time was next available, the patient underwent coronary artery bypass via lower hemisternotomy. This access was chosen to maintain the separation of the tracheostomy and sternotomy incisions. The perioperative course was uncomplicated. The patient was discharged home with plans for urgent otolaryngology followup for the management of his supraglottic stenosis. |
A 20-year-old male patient presented with complaints of pain in the left hip since 1 year and difficulty in walking for 6 months. There was no history of trauma, fever, weight loss, and not a known case of diabetes and hypertension. The patient was diagnosed as tuberculosis left hip in the outside hospital without any biopsy, for which he had taken anti-tubercular treatment for 9 months, and still patient was not relieved of pain and stiffness. On examination, the patient had mild tenderness over the left hip with the restriction of joint movements. He had flexion deformity of 30°, adduction and external rotation deformity of 10 and 15° respectively. Wasting of the thigh and leg was present with no true shortening. X-ray of the pelvis with both hips anteroposterior and lateral view revealed calcified nodular mass over superior, inferior part of the femoral head, and anterior part of the neck with decreased joint space (). Computed tomography (CT) pelvis showed multiple intra-articular loose bodies with largest measuring 3*2.2 cm with early changes of secondary osteoarthritis and no evidence of joint effusion and erosion (, ). Magnetic resonance imaging (MRI) was suggestive of early arthritis with intra-articular loose bodies. There was <10% of articular erosion of postero superior part of acetabulum. As the patient was disabled with pain, stiffness especially restricted flexion and abduction and difficulty in daily routine activities, we planned for surgical excision of the loose bodies and cheilectomy of the overgrown/ossified femoral head on superior part of the femur to improve the stiffness of affected hip joint.\nThe patient was operated in lateral position under spinal anaesthesia using the lateral approach to the hip. Fascia lata was cut along the line of incision and retracted anteriorly to expose the anterior capsule. Arthrotomy was done using 2 cm incision over the anterior capsule and the anterior, inferior loose bodies were removed. Superior loose bodies were approached through gluteus medius and removed (). Capsule was closed using ethibond suture, the wound was closed in layers, and the removed loose bodies were sent for histopathological examination ().\nPost-operative X-rays revealed the complete removal of the loose bodies (), the patient was started with a hip range of motion from the 2nd post-operative day. Histopathological examination was suggestive of synovial chondromatosis with no evidence of inflammation/granuloma. At present 2-year follow-up, the patient is having full hip range of motion with no difficulty squatting, sitting cross-legged and radiological examination showed no evidence of recurrence, and there is no significant progression of arthritis (, , ). The patient is fully satisfied with the chosen treatment and participating in running and other sports. |
A 23-year-old right-handed woman had experienced refractory ICH in the left frontal lobe 3 times within 2 years and was referred to our hospital. A CT scan revealed a small high-density region in the left frontal lobe that was confirmed to be a subacute ICH (maximum 2.0 cm in diameter) (Figures and ). On admission, the patient was alert and oriented. The patient did not show any neurological abnormalities other than headache.\nA cerebral angiography revealed no abnormalities. On the basis of preoperative MRI findings (Figures and ) as well as the clinical course of the patient, a preoperative diagnosis of refractory ICH caused by cerebral cavernous malformation was made. Our recommendation to the patient was surgical removal of the lesion because it bled frequently and was growing in size. A preoperative 3D fusion image was then acquired to simulate the surgical procedure (Figures –). From the result of the simulation, we determined that a straight skin incision and small craniotomy would be enough to remove the hematoma (). To identify Broca's area, a preoperative fMRI was performed and Broca's area was estimated to be positioned posterior to the hematoma (Figures –). This information led the surgical team to avoid touching the posterior wall of the hematoma cavity so that Broca's area was not affected.\nFollowing surgical simulation, the patient underwent a craniotomy under general anaesthesia. A curvilinear incision was made, and it ended just behind the hairline. A bone flap was then removed to reveal the preoperatively targeted sulcus. A cross-shaped opening was made in the dura () followed by a large opening in the arachnoid membrane over and inside the targeted sulcus. From the results of the preoperative simulation on the workstation, we determined that the hematoma of the patient would be located underneath the bottom of the targeted sulcus (). Thus, a minimal corticotomy (4 mm) was made on the bottom of the sulcus where an old hematoma was discovered and was carefully detached from the surrounding brain. Haemostasis was accomplished after removing the solid portion of the hematoma (), which was pathologically identified as a cerebral cavernous malformation.\nA CT scan obtained after surgery confirmed complete removal of the hematoma (Figures and ). The preoperative symptom of headache was relieved immediately after the operation, and the patient was discharged from hospital 1 week after surgery without any neurological sequel. |
A 36-year-old female patient was admitted to the outpatient department of this hospital with complaints of neck pain, stiffness, and twisted neck. She could not turn her head to the right, since having a bitter quarrel six months ago. There was no history of physical trauma. Nevertheless, she had suffered emotional stress by delivering a baby with fetal deformity. She had been diagnosed as having somatization disorder, neurologically, by consultants after review of several of her radiologic images at the time. A conservative management had not improved her symptoms, and she visited the department of neurosurgery of our hospital after several consultations. A neurological examination showed right ankle rigidity with markedly increased deep tendon reflex. She could not stand up by herself without the help of a crutch on her right side (). The range of motion in her neck was completely limited, and the patient suffered severe neck pain and stiffness. There was no fever and the routine blood tests were within normal limits. She had suffered pulmonary tuberculosis, which was completely resolved after she was treated with oral medication about 16 years ago. Her left foot cellulitis was also resolved after she was treated with intravenous antibiotics about a year ago. Recently, this patient had no signs of retropharyngeal infection, but her body weight decreased about 12 kg during a four month period. Simple radiographs showed severe kyphoscoliotic cervical curvature (). The axial computed tomography (CT) scans () of the cervical spine revealed a severe atlantoaxial subluxation with C1 rotated to the left on the odontoid process without anterior displacement. These are reliable findings, which correspond to type I in the Fielding classification of atlanto-axial rotatory subluxation. There were no evidences of bone injury, bone disease, or hemorrhagic sign. MRI verified the CT findings, which demonstrated that the transverse ligament was intact (). However, T2-weighted images revealed hyperintensity of the ligaments and edema of the atlantoaxial joint, and less of the atlanto-occipital joints, with thick peripheral enhancement from C1 to T2. This was interpreted as an infectious abscess pocket of the ligaments and joint. Indeed, multifocal nodular densities were observed in the simple chest radiographs. This suggested reactivation of pulmonary tuberculosis, compared to previous chest images.\nPulmonary tuberculosis was observed in both upper lobe and left lower lobe from the chest CT. Tuberculosis was immunologically confirmed by utilizing tuberculosis polymerase chain reaction and acid-fast bacilli smear. She was treated with antibiotics for tuberculosis (Rifodex, Pyridoxin, Pyrazinamide, Yuhan-zid, and Myambutol). This patient was asked to wear a Philadelphia collar continuously, and was also prescribed a botulinum toxin for muscle relaxant. The sign of torticollis improved. Six months after she was put on an oral antituberculosis regimen, her radiographs and MR images showed improved atlantoaxial alignment and decreased posterior epidural abscess (). Then, she underwent anterior cervical discectomy and fusion (ACDF) in the C4-C5 level for the correction of severe kyphoscoliotic curvature (). Her pain completely disappeared, restoring a full range of cervical movement and right ankle movement without pain. |
Our proband 1 is a 10 and half-year old Caucasian female with learning disability, significant growth retardation, microcephaly and speech delay. She was born at a full term after a normal pregnancy and delivery with average birth weight (3.27 kg, 50 percentile) and length (49.5 cm, 50 percentile). No jaundice, hypotonia or problems with feeds was observed during newborn period. However, her weight was 25th percentile at 2 months, and less than 3rd percentile from age 8 months. Although both her weight and length has been below 3rd percentile from age of 9 months, she has not shown any sign of delayed milestones. At the age of seven months, she developed oral thrush and began to demonstrate decreased development and feeding. She became a poor eater and tended to only drink water and breastfeed for liquids. She had failure to thrive partly because of her swallowing problem and tongue thrust. Since 6 months old, she continues to have constipation with bowel movement every 3–5 days. It has not improved with thyroid treatment and enema was required at times. At 1 year and 10 months, she had laboratory evidence of compensated hypothyroidism with normal thyroid levels and elevated thyroid stimulating hormone, on Synthroid treatment for symptomatic control. She has soft dysmorphic features including cupped ears and a unilateral ear pit in her right ear (Fig. , ). Her length was below the 3rd percentile, but her weight to length curve was normal in the 22nd percentile (Fig. ). Brain MRI, performed at 2 years and 3 months of age, showed normal. She presents significant overall sensory regulation issues. For instance, she seeks movement and touch constantly and has inconsistent sleep patterns as well. She demonstrates behaviors consistent with anxiety and high arousal state. She seeks specific oral motor input and prefers to have crunch and/or chewy textures. Her behavioral studies revealed the auditory processing concerns with difficulty processing specific directions, which are consistent with a system that is high in adrenaline and low in serotonin and dopamine. She has a learning disability, struggling in math at the school, and is seeing a speech therapist for reading difficulties. At 10.5 years of age, her cognitive function is at the level of 8.5 years.\nA 244K Agilent CGH array revealed a deletion of 1q21.1-1q21.2 spanning about 1.24 Mb of genomic DNA with the genome coordinates from 146,542,843 to147,786,706 (GRCh37/hg19), resulting in the loss of 9 genes including PRKAB2, FMO5, CDH1L, BCL9, ACP6, GJA5, GJA8, GPR89B, and NBPF11 (Figs. and , Table ). This deletion has been reported to be causative for the 1q21 recurrent microdeletion syndrome []. The results of CGH array in both parents demonstrated that this del(1)(q21.1q21.2) in proband 1 occurred de novo and this result was also confirmed by qPCR (Fig. ). Another deletion identified in proband 1 was a 68 Kb deletion within intron 2 of AUTS2 gene at 7q11.22 (Figs. and ). The qPCR results showed that the intronic deletion in AUTS2 in proband 1 was inherited from the healthy father suggesting that this deletion is a polymorphism with no clinical effect (Fig. ).\nProband 2 is a 8-year old Caucasian male with developmental delays, hypotonia, speech delay as well as cognitive and motor impairment. He was born at full term following a normal pregnancy, labor and delivery with appropriate growth parameters, birth weight 3.92 Kg and length 51 cm. He remained in a hospital for three days due to a detected ventricular septal defect (VSD) and breathing problems. Later, he was admitted two times at the ages of four months and then fourteen months for enlarged heart and cyanotic changes, but VSD subsequently closed spontaneously. At the age of eleven months, he had pressure equalization tubes and was diagnosed with juvenile idiopathic arthritis. His developmental delay particularly regarding his motor milestones was observed from 6 months of age; rolling from front to back and back to front at 3 months of age; pulling to stand at 10 months; sitting at 11 months; crawling in reciprocal fashion by 13 months of age and walking with support at 20 months. However, muscle mass, strength and muscle stretch reflexes were within normal limits. There is no history of seizures or periodic breathing, and no major difficulties with constipation or teeth grinding. In the developmental test performed at the age of 2 years, he demonstrated severe delays across all areas consistent with overall cognitive and motor impairment as well as craniofacial dysmorphisms with bilateral epicanthal folds and periorbital swelling (Fig. , ). He had a few mild behaviors consistent with an autistic spectrum disorder such as lack of pointing, limited play skills and poor eye contact, but generally seems to interact at a level consistent with his developmental level. His poor eye contact also seems more a symptom of overall poor attention span, and visual inattentiveness, as opposed to lack of social awareness. He also displayed limited integration of social communication behaviors (gaze, sounds, gestures and facial expressions) and difficulty initiating and sustaining social interactions.\nA CGH array result demonstrated that proband 2 has 508 Kb duplication at Xq28 with the genome coordinates from 153,101,077 to 153,609,163 (GRCh37/hg19) encompassing 15 genes including MECP2, one of responsible genes for Xq28 duplication syndrome (Figs. and , Table ). Parental CGH array results revealed that this Xq28 duplication was inherited from mother. The qPCR results using two different primers amplifying regions within the known duplicated region revealed that Xq28 duplication was originally inherited from maternal grandmother who inherited it to mother, a carrier with a normal phenotype (Fig. ). We performed qRT-PCR to compare the mRNA expression levels of MECP2 in proband 2 with those in other family members whose blood samples were available. Figure shows proband 2 has almost double amount of MECP2 mRNA expression compared to other family members. However, both maternal grandmother and mother have normal expression levels of MECP2, even though they both have same duplication. |
An 80-year-old Caucasian man who initially presented with back pain was found to have a 9.8 cm infrarenal abdominal aortic aneurysm on computed tomography (CT). This was suitable for endovascular aneurysm repair (EVAR) but the left common iliac artery (CIA) was short, necessitating the extension of the left iliac limb into the external iliac artery (EIA). The decision was made to proceed with an on table coiling of the left internal iliac artery (IIA) and EVAR. However, a tortuous right CIA made coiling of the left IIA extremely difficult and following a prolonged attempt, the decision was made to proceed with EVAR without coiling the IIA (Fig. ).\nOn a 1-month follow up CT the left limb extension had disengaged from the main body, resulting in a large Type 3 endoleak. The disengagement was presumed to be due to the tortuosity of a heavily calcified external iliac artery returning to its anatomical position on removal of the Meir wire (Boston Scientific). The left IIA remained patent and acted as an outflow for the type 3 endoleak. The left limb was then realigned successfully with termination of the type 3 endoleak.\nOn a follow up CT 1 month post repair, the left IIA remained patent with a large type 2 endoleak demonstrated but the sac size remained static (Fig. ). The failure of the IIA to occlude was presumed due to the cavity created within the aneurysm sac from the type 3 endoleak. Due to the large size of the aneurysm and the relatively large size of the type 2 endoleak the decision was made at multi-disciplinary team meeting to embolise the type 2 endoleak.\nAs antegrade access to the left IIA was not possible due to the presence of the stent graft, an attempt was made to access the internal iliac artery via the buttock. Direct sac puncture was not possible as the endoleak was located within the pelvis and surrounded by bony structures and pelvic viscera. The intention was to puncture the posterior division of the IIA but visualisation with ultrasound was limited and a vessel was punctured, which on subsequent angiography was shown to be the anterior division of the left IIA (Fig. ). The left IIA was embolised using Spirali (Pyramed) coils in a retrograde manner. Due to the absence of a solid structure which to compress the access vessel against, especially as the anterior division of the IIA had been punctured, the arteriotomy needed to be closed using an Angio-Seal (Terumo). Correct intraluminal placement of the Angio-Seal (Terumo) is dependent on backflow of blood into the Angio-Seal (Terumo) sheath from the artery. However, as the left IIA had been embolised, backflow from the Angio-Seal (Terumo) was non-existent. The angioseal was not visualised on ultrasound and therefore a 4 French dilator was inserted within the Angio-Seal (Terumo) sheath through which contrast was injected to directly visualise the tip to the sheath within the artery (Fig. ). The sheath was then withdrawn until just inside the vessel lumen and the plug deployed with immediate haemostasis (Fig. ). This was an off-label use of the Angio-Seal (Terumo).\nA follow up CT 1 month post procedure revealed resolution of the Type 2 endoleak. |
A 44-year-old female patient visited the emergency department of a local municipal hospital with severe symptoms of dysphagia and odynophagia after ingestion of chicken bone. She underwent flexible esophagoscopy for diagnostic and therapeutic reasons, during which the foreign body was initially visualized in the hypopharynx, but iatrogenically impacted in the posterior pharyngeal wall, in a position where it was no longer possible to be removed through the esophagoscope.\nThe staff in the municipal hospital lacked the expertise of performing rigid esophagoscopy or open neck exploration and the patient was referred to our hospital at the same day for further treatment. On admission, the patient complained of dysphagia and odynophagia, without signs of respiratory distress. However, she had an elevated temperature of 39.5°C with a rise in white blood cell count indicating an inflammatory process. She was heavy smoker and her medical history was significant only for episodes of acute bronchitis, for which she occasionally received oral antibiotics and bronchodilators. On clinical examination pharyngoscopy, indirect laryngoscopy and direct laryngoscopy with the flexible laryngoscope were normal, although difficult to perform, due to the patients symptoms. Plain cervical and thoracic X-rays did not reveal signs of the foreign body or retropharyngeal and mediastinal emphysema. The foreign body was finally visualized in the cervical CT scan impacted extraluminally in the retropharyngeal space between the right common carotid artery and jugular vein, in contact with the anterior surface of the C5 vertebral body. No signs of air in the surrounding tissues were present ().\nIn view of the clinical signs and symptoms and in order to preclude a deterioration of the patients' condition and a possible abscess formation a prompt removal of the bone under general anaesthesia was decided. A rigid esophagoscopy was not performed at this stage as it was considered unnecessary due to the extraluminal position of the foreign body and carried more risk of enlarging the perforation. Through a right cervical incision, retraction of the sternocleidomastoid muscle, and the carotid sheath, the bone was palpated in the prevertebral space where it had further migrated and was removed (Figures and ). No pharyngeal wall laceration was noticed. The soft tissues were irrigated, a vacuum surgical drain was placed, and the incision was closed in layers with interrupted sutures. A nasogastric tube was placed and remained for 24 hours. Broad-spectrum antibiotics were administered postoperatively intravenously for 72 hours until fever resolved. The drain was removed in the 2nd postoperative day and the patient was discharged home. |
A 53-year-old African American man involved in a pedestrian versus automobile accident presented to the emergency room. He was alert and responsive with persistent hypotension requiring multiple transfusions of blood products. He underwent a computed tomography (CT) scan with trauma protocol demonstrating multiple injuries including bilateral pneumothoraces, bilateral Grade III-IV renal lacerations, a severe pelvic fracture with disruption of the pubic symphysis, and a urethral and pelvic hematoma. Active extravasation of contrast was noted from the bilateral internal iliac arteries. The patient was taken emergently to Interventional Radiology (IR). Pelvic angiography revealed transection of the left internal iliac artery with ongoing extravasation of contrast from the right internal iliac artery. He underwent selective embolization of bilateral internal iliac arteries, right inferior epigastric artery, and the left L4 lumbar artery. Despite this intervention, he was noted to have continual pelvic bleeding. A suprapubic tube was placed and positioned well with confirmation by flushing the catheter though it was noted to have little drainage after placement. CT cystogram demonstrated the significant pelvic trauma, including extravasation of contrast, confirming intraperitoneal bladder rupture (). The bilateral renal lacerations were managed conservatively with close observation. He was taken to the operating room later that day with a concern for abdominal compartment syndrome. An exploratory laparotomy was made and a significant amount of blood and clot was evacuated from around the bladder. A prominent pelvic hematoma was noted in the inferior portion of the space of Retzius. An anterior cystotomy was performed on the patient to rule out a possible bladder injury. A small extra peritoneal bladder rupture was identified and repaired primarily with a running 3-0 vicryl suture. Attempted Foley catheter placement was unsuccessful and a posterior urethral disruption was identified under direct visualization via cystoscopy. The bladder was closed in two layers with a suprapubic tube left in place. The abdomen was left open and packed by the trauma service and the orthopedic service stabilized his pelvis with external fixation. In total, he had received 62 units of packed red cells, 41 units of fresh frozen plasma, 10 six-packs of platelets, and several doses of Factor VII during resuscitation.\nHe was monitored in the Intensive Care Unit (ICU) for two days and then taken back to the operating room for washout, removal of packing, and attempted closure of the abdomen. There was no evidence of ongoing bleeding. The suprapubic tube was noted to be in place. Additional surgical drains were placed and closure was successful. A wound vacuum was placed over the abdomen.\nHe continued to require ICU level care and was noted to have significant urine leakage through the pelvic drains. A cystogram 48 hours after the initial injury demonstrated a leak from the bladder and elevated fluid creatinine from the surgical drains confirmed the diagnosis of a urine leak (). A follow-up CT scan one week after his admission demonstrated improvement of the bilateral renal lacerations, without extravasation of contrast on either side. He was taken back to the operating room on hospital day 12 from his initial presentation for pelvic and bladder exploration. Intraoperatively, he was noted to have necrosis of the bladder with sparing of the trigone and prostate (). Exposed pelvic bone was visualized with surrounding necrotic pelvic floor musculature. A simple cystectomy was performed and the bilateral ureters were ligated at the bifurcation of the iliac arteries. IR placed bilateral nephrostomy tubes via a percutaneous approach. He was soon discharged and returned for ileal conduit urinary diversion 7 months after his initial injury. |
A 12-year-old boy with anorexia nervosa presented with subacute multifocal digital swelling. He had been diagnosed with an eating disorder about 4 months prior to symptom onset, requiring admission to the Adolescent Medicine service for malnutrition, orthostasis and bradycardia, which resolved with monitored feeding. Despite ongoing behavioral therapy following discharge, however, adequate intake with continued weight gain remained a challenge. Over the course of 6 weeks, he developed additive and persistent swelling of the right hand first and fourth digits, followed by the left fifth digit (Fig. ). The swelling was painful and unresponsive to nonsteroidal antiinflammatory drugs, there was no fever, and he identified no preceding trauma or illness. Physical exam was notable for fusiform swelling limited to the phalanges, as the joints themselves did not exhibit any discrete effusions. Furthermore, the overlying skin was normal in appearance and texture, without petechiae or ecchymoses, and no other mucocutaneous changes were present elsewhere. Complete musculoskeletal exam was otherwise normal, without other areas of swelling or pain. The patient appeared generally cachectic and review of the growth curve revealed significant weight loss with concomitant stunted vertical growth over the previous 2 years, with a sustained body mass index below the first percentile for age. He had previously exhibited a normal fecal calprotectin and at the time of this presentation did not report any gastrointestinal abnormalities concerning for enterocolonic inflammation or malabsorption. He denied practicing restrictive eating behaviors, but his diet included few fruits and vegetables. He was then admitted for a comprehensive medical work up of this constellation of symptoms.\nHand radiographs showed marrow and cortical erosive change with periosteal reaction and overlying soft tissue swelling of the involved phalanges (Fig. ). MRI of the right hand revealed signal abnormalities with surrounding soft tissue edema, but without arthritis, in these areas (Fig. ). These findings prompted concern for chronic noninfectious osteomyelitis (CNO) or an alternate noninfectious inflammatory entity, such as Langerhans Cell Histiocytosis (LCH). Subsequent whole body imaging did not identify any other areas of involvement. The isolation of the lesions to the hands was felt to be atypical for CNO and LCH, particularly without evidence of systemic inflammation to further suggest such diagnoses. Therefore, further evaluations for other etiologies of finger swelling with bony changes were pursued.\nLaboratory data were significant for normal complete blood count, iron studies, erythrocyte sedimentation rate, C-reactive protein, and urinalysis. Immunologic serologies were similarly negative, including antinuclear antibody, Rheumatoid Factor, Human Leukocyte Antigen-B27, Celiac antibodies, and Lyme antibodies. Thyroid stimulating hormone and free thyroxine were only very slightly increased and decreased, respectively, but primary hypothyroidism was not thought to be causative of the marked failure to thrive. Hepatic function was intact, with normal albumin level and coagulation studies, but low prealbumin of 18.6 mg/dL (reference range 20–26 mg/dL) was suggestive of a nutritional deficit. Further investigation of vitamin and mineral status showed normal zinc, folate, and vitamin B6 levels. However, vitamin C was strikingly low at 5 μmol/L (reference range 23–114 μmol/L), as was vitamin D 25-OH at 12.2 ng/mL (normal > 30 ng/mL).\nThe diagnosis of scurvy was made on the basis of a severely low vitamin C level. Although scurvy bone lesions are typically described in the lower extremities, since the analogous lesions were present in the hands this was thought to be consistent with vitamin C deficiency. These vitamin deficiencies were attributed to restricted intake due to anorexia nervosa, and treatment was initiated with ascorbic acid, cholecalciferol, and liquid meal supplements. The ascorbic acid regimen consisted of 100 mg 3 times per day orally for 7 days, followed by 100 mg daily as maintenance; cholecalciferol dosing was 2000 U orally daily. Within 3 weeks of starting therapy, vitamin levels normalized and the digital pain and swelling resolved. |
A 29-year-old Chinese man presented with a sudden loss of consciousness.
A 29-year-old Chinese man suddenly passed out while jogging at the school sports field. He was found unconscious with disappearance of carotid pulsation when a doctor from the school hospital arrived in 3 min. His electrocardiogram (ECG) showed a flat line without any electrical activities (Figure ). Then he was quickly diagnosed with sudden cardiac arrest. After about 10 min cardiopulmonary resuscitation (CPR), return of spontaneous circulation was achieved, and the patient was transferred to our hospital for assessment as soon as the ambulance arrived. After admission, the patient regained consciousness on the next day and had no symptoms of discomfort. He claimed no previous symptoms of chest pain or shortness of breath on exertion.
The patient was an active individual who took exercise regularly with height of 183 cm and weight of 75 kg. He suffered a high fever at the age of 5 but was not able to recall whether there was any other discomfort like a skin rash. There was no other history of past illness.
He does not drink alcohol or smoke and has no history of trauma and drug use. This patient has no family history of cardiac disease or any clinical feature to suggest connective tissue disease.
Vital signs were steady during hospitalization. No abnormalities were found on cardiopulmonary examination. There were no swollen lymph nodes, and no skin rash on the whole body.
The levels of troponin I were slightly elevated from admission to normal levels after a few days (from 0.44 ng/mL to normal, Figure ). His liver function suggested that alanine aminotransferase was 454 U/L and aspartate aminotransferase 357 U/L at admission, which gradually decreased to normal levels, consistent with the expression of myocardial injury markers. The blood routine showed that white blood cells (13.3 × 109/L) and neutrophils (11.3 × 109/L) were slightly increased at admission to normal levels after a few days |
A 77-year-old man with a past medical history of type 2 diabetes, hypertension, and ESRD underwent deceased donor renal transplantation. Two months following his renal transplant, the patient was admitted for an acute kidney injury discovered on routine follow-up laboratory testing. From a baseline creatinine of 1.3 mg/dl after the transplant, he was noted to have a creatinine of 2.7 mg/dl and a renal biopsy was obtained. Histopathology was suggestive of mildly active cellular rejection and acute tubular injury but with no concerns for antibody-mediated rejection. The patient received three days of methyl-prednisolone 250 mg daily intravenously and was subsequently transitioned to high-dose oral prednisone with a taper.\nThe patient was readmitted within three weeks of his renal biopsy with worsening renal functions, now with a creatinine level of 3.8 mg/dl. At this time, he was on prednisone five mg daily, tacrolimus four mg twice daily, and mycophenolate 500 mg twice daily. His family reported poor oral intake and that he had been taking furosemide at home. He received intravenous (IV) normal saline and diuretics were held. However, as his renal functions did not improve beyond a creatinine level of 2.1 mg/dl, the decision was made to perform a repeat renal biopsy. During ultrasonography for the renal biopsy, concerns were raised for a possible renal artery aneurysm. An ultrasound of the right lower quadrant and transplant kidney subsequently showed a 3 cm x 3.4 cm x 4 cm aneurysm proximal to the renal artery anastomosis to the right external iliac artery (Figure ). The right external iliac artery to renal artery anastomosis was patent and the renal vein was noted to be patent as well. No peri-transplant kidney fluid collections were noted and no hydronephrosis was seen.\nSubsequently, a pelvic arteriogram was performed, which showed patent pelvic and iliac arterial flow. However, a large pseudoaneurysm arising directly off the right external iliac artery was re-noted and the renal transplant artery was noted to be filling from the distal side of the aneurysm and remained patent, although with sluggish flow (Figure ). A second known renal transplant artery was not seen and was presumed to be thrombosed.\nWhile the interventional radiologist considered closing off the pseudoaneurysm by stent placement, the origin of the aneurysm was noted to be too close to the anastomosis to allow for stent placement. Hence, transplant surgery was consulted. The patient was taken to the operation room for a re-exploration of his transplanted kidney and revision of the arterial anastomosis. The patient underwent exploratory laparotomy, and intraoperatively, significant inflammation and scar tissue surrounding the hilum of the transplanted kidney was seen. Once the pseudoaneurysm was entered, necrotic tissue and purulence within the pseudoaneurysm were noted. It was felt that the arterial flow to the transplanted kidney could not be restored and, therefore, a decision was made to proceed with the resection of the infected pseudoaneurysm and transplant nephrectomy. The transplanted kidney was explanted. A portion of the pseudoaneurysm was sent to pathology for further characterization, and a portion was sent to microbiology for culture. The explanted kidney was also sent to pathology for further analysis. The patient was transferred to the intensive care unit (ICU) postoperatively for further management and close monitoring. During the surgery, the patient received crystalloids and multiple blood products.\nOn arrival to the ICU, the patient had temporary dialysis access placed and started on continuous renal replacement therapy (CRRT). Given concerns for an infected pseudoaneurysm, he was empirically started on renally dosed vancomycin, piperacillin-tazobactam, and fluconazole. All immunosuppressive agents were discontinued at this time. Due to persistent vasopressor requirements while in the ICU, the patient was switched to vancomycin, meropenem, and micafungin. The infectious disease team was consulted for recommendations. Blood bacterial and fungal cultures remained negative. However, fungal cultures from the pseudoaneurysm grew Aspergillus flavus on three separate samples. The patient was then transitioned to IV isavuconazonium 372 mg every eight hours for six doses, followed by 372 mg daily with a plan to continue for at least six weeks. Vancomycin and meropenem were discontinued. The pathology of the explanted kidney showed transmural necrosis of the renal artery, no evidence of rejection, and scattered micro-abscesses within the parenchyma. As the patient improved clinically, he was transitioned from CRRT to intermittent hemodialysis. He was subsequently transferred out of the ICU in stable condition. His hospitalization was complicated by colitis secondary to Clostridium difficile for which oral vancomycin was initiated. Preparation was made to discharge him to an acute rehabilitation facility; however, a day prior to discharge, he was found to be unresponsive by his nurse and despite prolonged resuscitation attempts for cardiac arrest, could not be revived. The exact etiology for this sudden demise could not be determined. |
A 48-year-old woman underwent a bilateral mastectomy in 1997 followed by radiotherapy and chemotherapy for a BRCA-1-positive invasive ductal carcinoma. This was followed by a delayed bilateral breast reconstruction with implants in 2007 and later converted to latissimus dorsi flaps and implants (Nagor GFX 460 implants). Apart from an episode of pain in the left breast reconstruction in 2015, she did not present with any symptoms until June 2018, when she attended breast clinic with a few weeks' history of swelling in the right breast reconstruction. She denied any pain or trauma and was systemically well. On examination, there was no redness or tenderness and no palpable lymphadenopathy in the neck or axillae. The right breast reconstruction appeared slightly larger than the left and on palpation was tense, but not hard, when compared to the left side. An ultrasound scan demonstrated peri-implant fluid; the implant itself appeared intact. A fluid sample was aspirated and sent for microbiology and cytology in fixative. The fluid sample was reported locally as showing inflammatory cells, with no malignant cells identified. The microbiological microscopy, culture, and sensitivity testing of the seroma fluid were negative. The Haematological Malignancy Diagnostic Service (HMDS) in Leeds confirmed that there was no indication of lymphoma evident in this sample. It is notable that the fluid sample for cytology, adjusting for the usual fixative volume, seems to have been only 10 ml. No additional tests were performed on the cytology specimen due to the absence of a natural cell clot and insufficient fluid volume, creating the inability to produce an artificial clot or cell block for immunocytochemical studies. The cytology specimen was double-reported by HMDS Leeds and also considered negative by them. The “false negative” is considered most likely to be due to insufficient volume rather than diagnostic error.\nIn July 2018, she was reviewed again in breast clinic and clinical concern persisted regarding the cause of the large seroma. It was felt that BIA-ALCL had not been completely excluded. An MRI scan was performed along with further ultrasound-guided aspiration to dryness (250 ml). The MRI showed smooth circumferential thickening of the right implant fibrous capsule with diffuse progressive enhancement (). A moderate volume fluid collection was seen between the capsule and the implant shell, which was folded secondary to the fluid build-up. No implant rupture was evident. On the left side, the fibrous capsule was of normal thickness, with no enhancement and no intracapsular fluid collection. In view of her symptoms and the risk of breast implant-associated lymphoma, the patient was listed for a right-sided total capsulectomy and renewal of the right implant in September 2018.\nThe right capsulectomy tissue was sent for pathological assessment. Marked thickening, fibrinous debris, and a “velvety” appearance of the capsular surface were noted (Figures and 2(b)). Histological analysis showed that there were atypical lymphoid cells in the fibrinous exudate from around the implant (Figures –2(f)). Tissue from the capsule was sent to HMDS for further analysis and second opinion. T-cell receptor (TCR) gamma multiplex polymerase chain reaction (PCR) showed an oligoclonal pattern of TCR rearrangement with multiple, reproducible, clonal populations. CD30 and IRF4 immunostains were positive. Alk, CD2, CD20, CD3, CD4, CD5, CD7, CD8, and Granzyme B were all negative (Figures –3(f)). T-cell antigen expression was difficult to assess, but the features suggested a null phenotype. The overall pattern of morphology, immunohistochemistry, and molecular analysis was considered consistent with a diagnosis of breast implant-associated anaplastic large cell lymphoma (BIA-ALCL). At the time of diagnosis, the stage of the disease was stage 1B (T2N0M0) as per Clemens et al. [].\nIn October 2018, she was seen again in breast clinic and further fluid accumulation was aspirated. A CT scan showed flattening of the new right breast prosthesis, with a surrounding effusion, abnormal soft tissue, and skin thickening, possibly representing postoperative changes. The patient was reviewed by the Manchester Lymphoma Group who advised urgent bilateral explant with capsulectomy or cavity shavings and salvage of any peri-implant seroma for full review with HMDS Leeds.\nIn November 2018, the patient was seen in breast clinic and expressed her preference for removal of the reconstructions, including implants and capsules, on both sides. Implant removal, total capsulectomy, and removal of an enlarged right axillary lymph node were performed. The tissue and fluid were sent for analysis.\nNo evidence of residual malignancy was seen in either the right or left breast capsulectomy/reconstruction tissue, peri-implant fluid, or the enlarged lymph node. Sections from the left breast tissue showed a mature peri-implant capsule with only focal sparse chronic inflammation, consistent with the number of years since reconstructive surgery on that side.\nThe right breast tissue included a newly formed capsule following the recent capsulectomy and implant renewal on that side. No nodules or masses were noted. Histological sections showed marked synovial metaplasia of the capsule and focal infiltration by small lymphocytes (Figures and 4(b)). Aggregates of foamy histiocytes and foreign body giant cells were seen surrounding silicone droplets in the nearby adipose tissue, indicating mild silicone leakage. CD30 staining was negative. |
This 18-year-old male patient presented at the Oral and Craniomaxillofacial Surgery Clinic to consider surgical treatment options for reducing an enlarged tumor of the back. The patient had more than six café au lait spots on the trunk and extremities, axial and inguinal freckling and several cutaneous tumors that were slightly raised above the level of the skin. The patient had no physical discomfort, no motor or sensitive deficits. The patient stated that he had been operated 2 years earlier on a tumor of the back in another hospital. More detailed information was not available. Despite this previous treatment of the tumor, the remaining tumor mass disturbed him both physically and in his self-perception. The patient stated that the tumor had been growing again since the first operation.\nOn the back there was a tumorous protrusion of the intact skin with a maximum above the spine, which extended from the lower thoracic region close to the edge of the pelvis (Figure 1 A ). The tumor was clearly prominent under tight-fitting clothing. The skin in this area was darker pigmented throughout the lumbar region and showed hirsutism. The tumor was insensitive to touch and pressure, showed no fluctuation on palpation, and the covering skin moved with the tumor.\nB-scan ultrasound revealed an inhomogeneous mass with focal, partly string-like reflections inside the space occupying lesion. Borders were poorly defined and the tumor mass reached to the spinous processes of the spine. The tumor appeared as solid mass and contained no cavities suggestive of necrosis. The tumor was resected in general anesthesia. When the lesion was exposed, a black pigmentation became apparent, which was partially arranged in a stripe-like pattern and frayed at the edges (Figure 2 ). The tumor was resected and the contour of the back reshaped. Despite dense suturing of the wound margins a hematoma developed, which was emptied. Secondary wound healing took 21 days and led to a stable healed wound (Figure 1 B ). There was no movement restriction of the patient after the wound had healed.\nUpon neuropathological investigation a spindle-shaped, 22x9x2 cm3 large skin sample with centrally located 6 cm long scar was seen. Cutting the skin exposed white and slightly greasy tissue on both sides of the scar with spotty brown-black pigmentation.\nHistological examination revealed a diffusely grown neoplasia of medium to high cellular density in the subepidermal connective tissue, consisting of roundish and oblong cells with delicate cytoplasmic extensions and slightly pleomorphic, small, round-oval, sometimes comma-shaped nuclei. The cells showed different degrees of pigmentation. Repeatedly, pseudo-Meissner corpuscles were observed. There was no evidence of mitoses and no Turnbull-positive hemosiderin pigment was detected. Immunohistochemistry demonstrated labeling of the tumor cells with antibodies against S100-protein and melan-A and to a lesser extent also with antibodies against HMB45. The Ki-67-proliferation index was less than 3%.\nA subepidermal diffusely grown pigmented (melanotic) neurofibroma WHO grade I was diagnosed (Figure 3 ). |
We describe the case of a 52-year-old well-fit Caucasian female who was admitted to our emergency department because of a sudden onset of decreased consciousness and speech disorder. Written informed consent was received from the patient for this study. The first neurological examination revealed a Glasgow Coma Scale score of 8 and a National Institutes of Health Scale Score of 13.\nWhen deeply stimulated, she could only open her eyes, verbal communication was absent, and she was not able to perform any command, and on cranial nerve examination, vertical gaze palsy was detected, while no other motor deficits could be identified. Blood examinations excluded a possible metabolic, toxic, infective, endocrine, or iatrogenic etiology of the comatose state.\nBrain CT scan examination was immediately obtained, and no acute lesions could be seen; a filling defect of the P1 segment of the left posterior cerebral artery was only described, and the radiologist could not identified the posterior communicant left artery ().\nHowever, taking into account all the symptoms and considering the possibility of an acute stroke, intravenous thrombolysis was performed resulting in a slow improvement of her clinical condition in the next days, although the confusion state, disorientation, slurred speech, and oculomotor disorder persisted.\nOn the next day, thrombolysis brain CT and MRI scans were performed that showed bilateral thalamic lesions in the paramedian territory ().\nDuring recovery, duplex ultrasound of trial sequential analysis and transcranial doppler ultrasound and transesophageal echocardiography were performed that revealed a patent foramen ovale with spontaneous passage of contrast bubbles from the right auricle to the left cavities, which could probably be the cause of embolism.\nThe first neuropsychological exam showed deficits on attention and memory task changes in behavioral were found, like impulsive behavior, also deficit in executive function were found, anosoagnosia and slowness in executive functions.\nAfter a week, the patient was discharged to home with a diagnosis of a bilateral thalamic stroke in cardioembolism. After 3 months, she was evaluated again and memory and behavioral impairment could be still detected. She was not able to go back to her work. |
A 47-year-old male with right-hand dominance, a farmer by occupation, presented with complaints of pain and swelling over the right forearm for the past year. The patient had been apparently asymptomatic one year ago. Subsequently, he had developed a swelling in the right forearm on the posterolateral aspect, which had been insidious in onset and gradually progressive in nature. It was associated with pain, aggravated by physical activities, and relieved completely when at rest. He had difficulty performing his routine activities because of the pain.\nAn examination of the right forearm revealed swelling of 10 x 5 cm in size over the posterolateral aspect of the proximal forearm just below the elbow flexion crease (Figures , ). The swelling was firm in consistency with smooth and round margins. There were no dilated or engorged veins, scar, or sinus. The swelling was neither warm nor tender. The plane of mobility could not be assessed due to the size and site, but it was not adhered to the skin. On contraction of the forearm muscles, there was no change in the size of the swelling. The elbow movements were normal. Wrist and finger extensions were also normal. The radial pulse was palpated and appeared the same compared to the left side.\nPlain X-ray of the right elbow and forearm showed tiny holes in the proximal aspect of the radius with scalloping of the lateral cortex in the anteroposterior view with soft tissue shadows with septations adjacent to the proximal radius (Figure ). In view of the soft tissue tumor, an MRI of the forearm was performed (Figures , ). The report showed lobulated intramuscular lesion, which was hypointense on T1-weighted sequence within the supinator muscle with extension into the intramuscular plane of the flexor aspect, abutting the neurovascular bundle on the flexor aspect with no signal changes of the PIN, and with no signal changes in the bone.\nAfter counseling about PIN palsy, the patient was taken for surgical exploration and excision of the lipoma. The Thompson approach was planned to handle the tumor from the posterolateral aspect. With the patient in the supine position, under strict sterile precautions, through a posterolateral (Thompson) approach, and with the plane of dissection made between extensor carpi radialis brevis and extensor digitorum communis, the mass was identified within the supinator muscle (Figure ). After careful dissection of the supinator muscle, the PIN was identified, which appeared stretched and frayed (Figure ). As the mass was circumferential, as noted on the MRI, and since the PIN wound around the neck of radius, we had to use the Henry approach. The dissection was made between brachioradialis (BR) and pronator teres to reach the supinator muscle (Figure ). The supinator muscle was stretched substantially with the mass underneath. The incision and soft tissue dissection extended even above the elbow crease, and a plane was made between BR and brachialis to trace the radial nerve and track down its branches (Figure ). The mass was identified within the supinator (Figure ), and after careful dissection on both anterior and posterior aspects of the proximal radius, the mass was excised in toto, and the tumor was found to measure about 4 x 4 x 6 cm (Figure ). Also, the proximal radius near the neck had four holes (Figure ), where the mass was adherent. The holes were curetted with the stripping of the periosteum (as per Salama et al., 2021) (Figure ). The excised mass was sent for histopathological examination (HPE). Again, the PIN was inspected, and it appeared to be intact but stretched and attenuated as shown in Figure . The wound was washed and closed in layers.\nPostoperatively, the patient was found to have full neurological functions. Plain X-ray in the immediate postoperative period showed cortical breach (Figure ) where the holes were curetted; otherwise, it was normal. The limb was not immobilized as the breach in the cortex post curettage was less than 30% of the circumference of the proximal radius. The patient's wrist and finger extension on the right side was 5/5 as per the Medical Research Council grading for muscle power. Sutures were removed at the end of the second week, and the patient returned to work after 12 weeks with frequent follow-ups. The HPE report showed mature adipocytes with some osseous matrix found scattered eccentrically, which was consistent with parosteal lipoma, and it grossly showed yellowish capsulated lesion. |
This 58-year-old woman presented with a long history of insensitivity to pain since childhood and increased numbness in her legs for several years. As a child, she recalled developing cuts on her feet that she could not feel. She could distinguish between hot and cold temperature although there was no uncomfortable sensation associated with extremes of either one. Since the age of 15 years she started to develop frequent fractures involving multiple bones which were also painless. In addition, she has two children and suffered no pain during childbirth. She also had anosmia. Over the ten years prior to evaluation, she had started to develop sensory loss in her legs. She had previously been diagnosed with cervical and lumbar spine disease and had undergone surgical treatment of both of these regions of her spine. She is of Caucasian English descent and the product of a nonconsanguineous marriage. She has a healthy brother and two healthy children. There is no indication that either her parents or any other relative was affected by symptoms suggestive of CIP suggesting an autosomal recessive form of inheritance. The remainder of the general medical history was significant for absence of diabetes, cancer, or rheumatologic disease. Neurological examination revealed normal mental status and cranial nerve examination except for anosmia. She was diffusely areflexic with flexor plantar responses. She had multiple joint deformities involving both ankles, elbows, and knees (Charcot's joints) which limited the testing of power. When she could provide a good effort, she had good strength. She had decreased sensation to pin prick, proprioception, and vibration distally in her feet. She could not perform a tandem walk and had a positive Romberg's test.\nAn electromyogram (EMG) was performed; the motor nerve conduction parameters were normal in the right tibial nerve but showed a markedly reduced response amplitude in the right peroneal nerve recording the extensor digitorum brevis muscle (this was severely atrophied). No evoked response could be elicited with stimulation of the peroneal nerve at the fibular head. No evoked sensory nerve action potentials were obtained in the right ulnar, sural, and superficial peroneal nerves. Needle electromyogram showed no abnormal spontaneous activity in any muscle sampled and the presence of high amplitude polyphasic units in the distal muscles of the right arm and legs associated with a mildly reduced interference pattern with maximal effort. Overall the study was interpreted as showing chronic neurogenic changes with a superimposed entrapment neuropathy of the right ulnar nerve. The other abnormalities noted in the nerve conductions were interpreted as partly secondary to Charcot's joints and technical factors such as increased subcutaneous tissues. |
A 26-year-old woman, gravida 1 para 1, received the MCuIUD (Fig. ) insertion 12 months after the first child was born when she was 22 years old. She did not have any symptoms and did not perform routine examinations after insertion into the device to determine its position within the uterine cavity. Her surgical history includes a vaginal delivery and an appendectomy. She is healthy and has no obvious past medical history. One day, after installing the IUD 4 years late, She had lower abdominal pain and back pain without obvious cause, but these symptoms just last for 1 day and spontaneously subsided, and she had no other discomfort.\nA pelvic ultrasound showed that the size of the uterus was normal. Part of the IUD was seen in the uterine cavity. The other part of the IUD was located in the muscular layer of the anterior wall of the uterus, the end of it appeared to be outside the serosa layer, and the periphery seemed to be surrounded by a low echo. The IUD was incarcerated and penetrated the uterine serosa. Abdominal x-ray confirmed the presence of the IUD in the pelvis (Fig. ). Hysteroscopy showed that the forearm of the IUD was incarcerated in the left anterior wall of the uterus, and the hind arm was located in the uterine cavity (Fig. ). Laparoscopy showed adhesion of the left anterior wall of the uterus to the intestinal tract (Fig. ). The adhesive tape was separated from the myometrium with an ultrasonic scalpel and scissors. It could be seen that the forearm of the IUD penetrates the left anterior wall muscle layer of the uterus and the sigmoid colon (Fig. ). The IUD was removed from the uterine cavity via the vagina. The IUD perforated through the entire bowel wall from the serosa to the mucosa and the hole was about 0.5 × 0.5 cm. The tissue around the rupture was nodular hyperplasia and was repaired with scissors (Fig. ), then the sigmoid colon and the uterus perforation were stitched (Fig. ).\nThe patient's operative and postoperative courses were successful, and she was discharged to home on a postoperative day 22 without complications. After 2 years of uneventful follow-up, the patient had an uncomplicated pregnancy. The patient was naturally pregnant 3 months after surgery and delivered by cesarean section 12 months after surgery. We saw a good recovery of the uterus and sigmoid colon during cesarean section (Fig. ). |
A healthy 21-year-old man was admitted to our hospital after being referred from another medical institution because of worsening left eye (LE) uveitis. He was treated 3 weeks earlier with oral acyclovir and topical steroids because of suspected LE herpetic anterior uveitis as serological tests revealed positive immunoglobulin M to herpes simplex virus-1. Initially he responded to treatment but 2 weeks later, his vision declined from 6/9 to counting fingers (CF), resulting in his referral to our center.\nThe patient denied any relevant past medical history. However, he mentioned that a month earlier he was examined for LE discomfort and diagnosed with allergic conjunctivitis following minor blunt trauma from a tree branch.\nOn examination, visual acuity (VA) was 6/6 in the right eye (RE) and CF at 1 meter in the LE. Intraocular pressure was 14 mmHg in both eyes. RE anterior and posterior segments were normal. There was a remarkable LE anterior chamber reaction with dust-like keratic precipitates, cells (4+), flare (2+), and some iris nodules. Fundus assessment was not possible because of dense vitritis. B-scan and high-frequency ultrasound did not reveal any intraocular foreign body. Aqueous tap was performed and the sample was sent for culture and polymerase chain reaction analysis. It was negative for all herpes viruses and for 16S rDNA. Meanwhile, with oral steroids and valacyclovir, the patient showed signs of improvement and LE VA improved to 6/15. Despite the remarkable improvement, it was insufficient as the patient continued to have marked anterior uveitis and vitritis. A white shadow was noted in the peripheral temporal retina of the LE which again could not be assessed properly due to vitreous opacities (). The patient eventually underwent pars plana vitrectomy and laser retinopexy was performed around the white peripheral temporal lesion, which was later believed to be the site of penetrating injury by a thorn on the tree branch from the previous trauma described by the patient. Gram staining of the undiluted vitreous samples showed gram-positive cocci. 16S rDNA was positive for S. epidermidis, and blood agar and chocolate agar cultures confirmed the result with moderate growth.\nThe patient was treated with intravitreal antibiotics (vancomycin 1 mg/0.1 mL and ceftazidime 2.25 mg/0.1 mL) and intravitreal dexamethasone 400 mcg/0.1 mL as well as intravenous (IV) vancomycin (1 g twice/day), and oral prednisone was continued.\nAfter 48 hours of treatment, the patient showed remarkable clinical improvement. LE VA was 6/12. There was no need to administer more intravitreal antibiotics.\nAfter 5 days of IV antibiotic treatment, the patient was discharged on topical and a tapering regimen of oral steroids.\nAfter a follow-up period of 3 months, LE VA was 6/6 with complete resolution of the infectious process (). |
A 45-year-old, gravida zero para zero, female presented with a one-week history of a fluctuant mass and erythema in the right superior breast. She had a history of seat belt injury to the right breast seven years prior, and had felt stable masses in the breast for two years prior to presentation. After admission to the hospital, intravenous antibiotic therapy was initiated for symptoms of infection. No family history of breast cancer was noted at that time. The work-up for presumed mastitis began with a bilateral diagnostic mammogram. The provided patient history included a possible diagnosis of cellulitis with imaging to rule out an abscess of the right breast. The ordering physician also emphasized the history of seat belt injury. The admission diagnostic mammogram revealed heterogeneously dense breasts, as well as the presence of fat necrosis in the upper outer quadrant of the right breast at the 12 o’clock position (Figure ).\nNo significant masses, calcifications, or abnormalities were noted in the left breast at that time. Ultrasound of the right breast demonstrated edema with no evidence of malignancy. The patient was diagnosed with cellulitis of the right breast and discharged with antibiotics.\nTwo weeks later, the same patient returned with exacerbated erythema, hardness, and tenderness in the right breast. In addition, she also noted a new lump in her left breast which she had not noticed before and mentioned this for the first time to the radiologist while ultrasound is being performed on the right side. The right breast showed redness, induration, and tenderness in the upper outer quadrant. Subsequent diagnostic ultrasound of the left breast revealed an irregularly shaped hypoechoic mass with microlobulated margins. The mass measured 21 x 18 x 14 mm and was located at the 3 o’clock position, 3 cm from the nipple (Figure ).\nUltrasonography of the right breast revealed only fat necrosis and edema consistent with the patient history. Overall, the imaging was given a BI-RADS assessment of 4C, which is a moderate concern for malignancy.\nUltrasound-guided biopsy of the left breast revealed invasive ductal carcinoma, a moderately differentiated nature, and a grade of two with components of ductal carcinoma in situ. Follow-up mammography was performed, showing proper placement of a marker in the clinically observable mass (Figure ).\nThe patient's care was transferred to an outside facility following a definitive diagnosis. The patient ultimately received bilateral mastectomies with sentinel lymph node dissections and adjunctive chemotherapy. |
A 16-year-old girl with no significant past medical history presented to the emergency department with a gunshot wound on the right side of her neck. The patient was shooting a BB gun at a wooden target with a metal base when she heard a metal “cling” sound and felt a pain in the right side of her neck. She stated that initially there was blood loss and applied pressure. When the bandage was removed in the emergency department, there was no active bleeding. Physical examination findings included vital signs within normal ranges and significant right jaw pain with a 2-3 mm circular wound to the right side of her neck with swelling and tenderness. She had no loss of consciousness, difficulty breathing, or difficulty swallowing. She was not in any respiratory distress, and had no stridor or wheezing, with normal effort and breath sounds.\nA soft tissue neck ultrasound revealed a hyperechoic area within the right superficial submandibular region that was 1.2 cm deep to the skin surface. The CT scan of the neck with contrast revealed a 7 mm radiopaque foreign body lodged within the right submandibular gland (Figure ), There was also evidence of a wound track extending to the right mandible, continuing to the mid-submandibular region. Imaging also revealed extensive soft tissue swelling inferior and lateral to the right-side submandibular gland. The submandibular gland was observed to be swollen, causing mild effacement of the right side airway without extravasation. The wound tract extended from the right submandibular triangle to the right submandibular gland. The chest x-ray was normal.\nBecause the patient was hemodynamically stable, she was admitted to the hospital overnight for further observation. She remained afebrile and stable throughout her hospital stay, with pain controlled with acetaminophen and morphine. Otolaryngology (ENT) was consulted and their recommendation was outpatient surgery for removal of the submandibular gland foreign body after two weeks to allow the soft tissue swelling to subside. The patient was discharged on oral Augmentin due to the BB remaining within the submandibular gland. The decision to delay the treatment was based on the impressive tissue edema induced by the trauma. Dissection would have been more difficult due to having to dissect through swollen inflamed tissue.\nThe patient was scheduled for foreign body removal by an ENT specialist 26 days after discharge. She underwent an uncomplicated excision of the submandibular gland and foreign body (Figure ). Excising the entire gland was necessary since the BB was embedded in the central portion of the gland. There were several attempts to palpate the BB both through the floor of the mouth in hopes that the ENT could extract it through the mouth. Palpation directly on the gland did not locate the BB. The ENT specialist feared if he tried to dissect within the gland without removing it, chronic sialadenitis could occur.\nThe right submandibular gland was found to have surrounding inflammation and was excised in a routine manner. The BB was located in the center superior portion of the gland. The postoperative course was uncomplicated and the patient was discharged the next day. |
A 17-year-old male patient presented to the ophthalmology outpatient department with complaints of headache and diminution of vision for the last 20 days. There was no history of fever or trauma. There were no signs of meningeal irritation. The vitals were within normal limit. The clinical evaluation revealed relative afferent pupillary defect in the left eye with evidence of bilateral papilledema on fundoscopy. The patient was advised MRI of the brain to rule out any cerebral pathology. MRI revealed communicating hydrocephalus with no evidence of any space occupying lesion. No lesion could be identified on plain MRI. The MRI was reviewed due to a high index of clinical suspicion, and the possibility of a very tiny nodule in the fourth ventricle was raised, which necessitated further imaging with with constructive interference in steady state (CISS) sequence []. A ring lesion with an eccentric scolex in the fourth ventricle with no evidence of post-contrast enhancement was seen. Thus, an imaging diagnosis of isolated fourth ventricular NCC was made. The patient was started on albendazole and ventriculoperitoneal shunting was done to alleviate hydrocephalus for symptomatic relief of the headache. There was immediate relief of the symptoms with recurrence of severe headache on the left side within few days. Repeat MRI with CISS sequence was done which showed an intraventricular cystic lesion in the 3rd ventricle which was extending through the foramen of monro into the frontal horn of the left lateral ventricle with dilated left lateral ventricle []. No lesion could be identified in the fourth ventricle suggesting intraventricular migration of the cyst. Ventriculoperitoneal shunt in situ was noted in right lateral ventricle, which was not dilated. The patient was referred to neurosurgery for endoscopic retrieval of the cyst. However, due to limited resource setting, the patient was referred to a higher centre for endoscopic removal of the lesion, which was uneventful. The patient is now doing well and was last seen at 3 months follow-up. |
A 54-year-old woman was referred for resection of an asymptomatic middle mediastinal mass. Her past medical history was remarkable for right breast carcinoma treated with lumpectomy, axillary lymph node dissection, adjuvant chemotherapy and irradiation sixteen years prior to this admission. Six years later a right para-vertebral desmoid tumor was completely resected. One year ago a second right breast carcinoma was diagnosed and completion mastectomy was performed. A positron emission tomography - computerized tomography (PET-CT scan) performed prior to her admission as part of her oncological follow-up revealed a 5-cm middle mediastinal mass with a standardized uptake value (SUV) of 20 (Fig ). With a differential diagnosis of an infectious process a course of antibiotics was administered without response. Repeat computerized tomography of the chest (CT scan) demonstrated a 5-cm mass, located between the aorta and the superior vena cava, compressing the right pulmonary artery, and adherent to the anterior tracheal wall (Fig ). Trans-bronchial biopsy was suggestive of a typical carcinoid tumor and the patient was referred to surgery.\nUpon admission, the patient denied any symptoms related neither to catecholamine hyper-secretion nor to carcinoid syndrome. Physical examination and routine laboratory results were unremarkable.\nThe operation was performed via a median sternotomy. A soft, highly vascularized, 1.5 × 2.5 × 5.5 cm mass located between the aorta, the superior vena cava and the right atrium was identified. The tumor compressed the right pulmonary artery, and was densely adherent to the aorta and the anterior wall of the trachea with a very rich network of small blood vessels (Fig ). Frozen section confirmed the diagnosis of a neuroendocrine tumor with a low mitotic index. Because of these findings we elected to remove the tumor using cardiopulmonary bypass to allow complete and safe resection. We performed a right femoral artery and the right atrium cannulaion, allowing manipulation and possible excision of the ascending aorta. The mass was completely resected. Postoperative course was remarkable for a transient left vocal cord paralysis. Final pathological examination demonstrated the characteristics architecture of paraganglioma. The tumor cells stained positive for synaptophysin chromogranin and sustentacular cells stained positive to S-100. Proliferation index was 5%. Cytology result of pericardial effusion did not show malignant cells.\nThe patient has been followed-up since surgery. Currently she is asymptomatic. Both chest MRI and a whole body FDG PET-CT scan, performed 10 months postoperative, did not show evidence of recurrence. |
A 48-year-old man diagnosed with HIV infection 13 years earlier, was presented with tense oral blisters and painful ulcerations associated with 15 days' duration. He had no history of skin or genital erosions. The patient showed no symptoms of HIV-related illnesses and never used antiretroviral therapy. Your last CD4 count was 1970/mL.\nThe patient was not taking any other prescription or alternative medicines. During the past 2 years, he experienced 7 episodes of intense pain and burn in buccal mucosa, including the present episode of bullous lesions. On oral examination, he had few well-defined erosions involving mouth and a small blister (Fig ). In his left eye its possible to see a mild conjunctivitis and symblepharon formation (Fig ). Nikolsky sign on buccal mucosa were positive.\nThe histopathologic exam of perilesional tissue showed on a subepidermal blister with an inflammatory infiltrate in the upper dermis composed of lymphocytes and eosinophilic leucocytes (Fig ).\nThe overall features were suggestive of mucous membrane pemphigoid. In the absence of immunofluorescence studies, in this case, the diagnosis was firmly based on a classic clinical presentation of MMP: severe vesicles, erosions and crusts on mucous membranes, typically affecting the oral cavity and eyes []. A direct immunofluorescence test could not be done because the patient was a prisoner and the pathology laboratory of the prison camp does not have the necessary technology for immunofluorescence studies.\nThe possibility of a drug-induced bullous eruption was effectively excluded in this patient because did not use any drugs. In this prison exists a specific set for patients in medical observation. In this local, the patient stay isolated alone, and he is reviewed before entering in this place, so that the specified treatment can be appropriately made.\nHe was treated with topical corticosteroids and informed about oral hygiene care. Within 2 weeks of treatment, he had significantly improved with almost complete disappearance of the lesions. A few small, tense vesicles continued to appear eventually.\nOral corticosteroid therapy in HIV-infected individuals raises concern regarding increased immunosuppression, therefore it should not be used in continuous treatment.\nAutoimmune bullous diseases in oral cavity associated with human immunodeficiency virus (HIV) infection are extremely rare and illustrates that patients with HIV are capable of mounting organ-specific autoantibody-mediated diseases [-].\nMolecular mimicry is one of the proposed mechanisms in the development of autoimmune disease in HIV patients. The exogenous infectious agent may have molecular similarity to a self-antigen and may therefore induce an autoimmune response [].\nImmune deregulation secondary to HIV infection may lead to increased risk of developing an autoimmune disease. Development of autoantibodies may be part of the nonspecific polyclonal B-cell stimulation seen in early stages of HIV infection secondary to interleukin (IL)-1 and IL-2 release by HIV-infected macrophages [].\nOn the other hand, the loss of specific immunomodulatory CD4 T cells may allow the expansion of the B-cell clone responsible for the autoantibody formation [].\nImmunodeficiency and autoimmunity seem to be the two opposite sides of the spectrum of the clinical immune response. However, persistent antigen stimulation, due to an inherently defective immune system ability to eradicate pathogenesis is the primary cause leading to autoimmunity in patients with immunodeficiency states []. |
A 40-year-old female patient presented at the Emergency Department of our institution with complaints of back pain for the last three days that started after moderate physical exertion. The patient referred no pain relief after taking anti-inflammatory drugs and denied respiratory symptoms such as chest pain, dyspnea, or cough. No weight loss, anorexia, or other symptoms were reported. There was no referral of previous surgeries or medications. A different, stronger anti-inflammatory drug was prescribed, but three days later she returned to the hospital, where a lumbar radiograph revealed the presence of a lytic lesion in the L4 vertebra. Due to the nonspecific appearance of the lesion, the patient underwent an MR of the lumbar spine. The exam revealed the presence of a heterogeneous, T1-hypointense mass in the body of L4, causing its partial destruction, and nerve root compression (). A CT-guided biopsy was performed in order to assess the etiology of this mass. The pathology report described the presence of tumor fragments of mesenchymal origin with smooth muscle differentiation that were diffusely positive for estrogen and progesterone receptors. No obvious nuclear atypia or mitotic figures were identified. Ki-67 proliferation index was less than 1%. The final report stated that the lesion was compatible with BML.\nSubsequently, a contrast-enhanced CT was performed to evaluate if other organs were affected: there were several soft tissue density round masses in the thorax, the largest being located in the left lung, measuring 44 mm (). There was a 12 cm mass in the left iliac crest that enhanced after intravenous contrast. This mass had a lytic component and exhibited an intrapelvic bulky element (). There was enlargement of the uterus due to the presence of several leiomyomas ().\nThe clinical conduct included vertebral subtotal tumor removal, laminectomy, and pedicle screw fixation on L3-L5 () to decompress the nerve roots and reduce the symptoms. Oophorectomy and hysterectomy were performed and confirmed the benignity of the leiomyomas. Outpatient treatment consisting of anastrozole, an aromatase inhibitor, was prescribed. At the 6-month follow-up CT examination, the nodular pulmonary and iliac crest masses kept the previous dimensions and no new lesions were observed. Long-term follow-up was recommended in this case.\nRegarding the low back pain, the patient referred a moderate improvement. Despite this, she needed to resort frequently to taking anti-inflammatory drugs after some physical exertion. The patient also reported a sensation of pressure in the pelvic region, especially in the lateral decubitus, most likely associated with the mass of the iliac bone. |
The patient was a 31-year-old pleasant female, who suffered a fall on ice resulting in a right distal radius intra-articular fracture. The distal radius was fractured into three separate pieces, and surgical intervention was deemed necessary. The patient underwent an ORIF of the distal radius 5 days postinjury in conjunction with a posterior interosseous neurectomy and extensor pollicis longus debridement. After the surgical procedure, the patient was placed in a soft dressing and a sugartong splint, including a thumb spica component.\nAfter 14 postoperative days, the patient had sutures removed and was placed in a short arm cast. The patient was seen for an initial occupational therapy evaluation where a wrist-cock up splint was fabricated for the patient 27 days after surgery. Upon initial evaluation, the patient presented with limited wrist ROM and severe pain. At presentation, her Disabilities of the Arm, Shoulder, and Hand (DASH) score was 57 and her pain score was seven () (). The patient was seen by occupational therapy for the treatment of pain management and wrist ROM. The patient had deficits with functional grasping and gripping activities as it related to grooming and household demands. Throughout this treatment time, the patient had continued complaints of thumb pain and discomfort. The patient experienced pain with any activity which utilized thumb movement or strengthening activities, with no relieving factors. The patient was seen for 20 visits over the course of 10 weeks. Due to the ongoing pain and ROM deficits associated with the patient’s thumb, it was determined an extensor tenolysis and hardware removal was to be completed by the orthopedic surgeon. The extensor tenolysis and hardware removal was identified as an appropriate surgery as the patient had both flexor and extensor tendon pain complaints.\nAn extensor tenolysis with hardware removal was completed 15 weeks following the ORIF of the distal radius fracture. The third and fourth extensor compartment and the extensor pollicis longus were transposed with scarring evident. The pronator quadratus was found to have been scarred as well. A tenolysis was performed to release the above-listed scar adhesion, in addition to the plate removal.\nThe patient was evaluated by occupational therapy 3 days following the surgical intervention of tenolysis and hardware removal. At the time of occupational therapy evaluation, the patient’s major complaints involved limited thumb motion. As shown in , the patient had a DASH score of 48 out of 100, with higher scores indicating a greater level of disability (). The Kapandji score was utilized to assess the opposition of the thumb (). At the evaluation, the patient could not achieve small finger (SF) opposition to the base of the SF and had a Kapandji score of eight out of ten () (). The patient agreed to attend therapy two times per week with an emphasis on restoring thumb ROM to aid in meeting her stated goal of improving functional grasping. The patient was educated on wrist and thumb active and passive ROM as part of her home exercise program. Occupational therapy interventions consisted of active and passive ROM, heat modalities, and ultrasound over the course of 11 visits over 7 weeks. The patient consistently had a Kapandji score of eight out of ten actively following each treatment session, with no additional improvement in active range of motion (). The patient continued to have complaints of pain in the musculature in the thenar eminence, with the pain in the extensor region of the thumb resolved. At this point, it was determined the patient may benefit from the addition of dry needling of the thenar eminence to her plan of care. Before the dry needling intervention, the patient had a deficit of 0.5 cm to oppose to the base of the SF and a Kapandji score of eight out of ten (). The patient also had consistent complaints of pain of a four out of ten on a Numeric Pain Rating Scale (NPRS) with a score of ten being the worst () (). |
A 45-year-old, gravida zero para zero, female presented with a one-week history of a fluctuant mass and erythema in the right superior breast. She had a history of seat belt injury to the right breast seven years prior, and had felt stable masses in the breast for two years prior to presentation. After admission to the hospital, intravenous antibiotic therapy was initiated for symptoms of infection. No family history of breast cancer was noted at that time. The work-up for presumed mastitis began with a bilateral diagnostic mammogram. The provided patient history included a possible diagnosis of cellulitis with imaging to rule out an abscess of the right breast. The ordering physician also emphasized the history of seat belt injury. The admission diagnostic mammogram revealed heterogeneously dense breasts, as well as the presence of fat necrosis in the upper outer quadrant of the right breast at the 12 o’clock position (Figure ).\nNo significant masses, calcifications, or abnormalities were noted in the left breast at that time. Ultrasound of the right breast demonstrated edema with no evidence of malignancy. The patient was diagnosed with cellulitis of the right breast and discharged with antibiotics.\nTwo weeks later, the same patient returned with exacerbated erythema, hardness, and tenderness in the right breast. In addition, she also noted a new lump in her left breast which she had not noticed before and mentioned this for the first time to the radiologist while ultrasound is being performed on the right side. The right breast showed redness, induration, and tenderness in the upper outer quadrant. Subsequent diagnostic ultrasound of the left breast revealed an irregularly shaped hypoechoic mass with microlobulated margins. The mass measured 21 x 18 x 14 mm and was located at the 3 o’clock position, 3 cm from the nipple (Figure ).\nUltrasonography of the right breast revealed only fat necrosis and edema consistent with the patient history. Overall, the imaging was given a BI-RADS assessment of 4C, which is a moderate concern for malignancy.\nUltrasound-guided biopsy of the left breast revealed invasive ductal carcinoma, a moderately differentiated nature, and a grade of two with components of ductal carcinoma in situ. Follow-up mammography was performed, showing proper placement of a marker in the clinically observable mass (Figure ).\nThe patient's care was transferred to an outside facility following a definitive diagnosis. The patient ultimately received bilateral mastectomies with sentinel lymph node dissections and adjunctive chemotherapy. |
A 61-year-old male was initially diagnosed with a melanoma involving his left neck in 1991 and treated with a parotidectomy and neck dissection followed by adjuvant radiation therapy. In July 2009, he was diagnosed with UC, initially treated with infliximab, a chimeric TNF-α monoclonal antibody for 6 weeks and then transitioned to a purine analogue, azathioprine. In May of 2012, he presented with a second primary melanoma involving his left jaw. After a whole body PET revealed no evidence of metastatic disease he underwent a radical neck dissection with pathology revealing invasive malignant melanoma characterized by an ulcerated Clark Level 5 lesion with a Breslow thickness of 5.5 mm and 15 mitotic figures/mm2. In August of 2012, PET CT re-staging showed FDG-avid cervical lymph nodes concerning for recurrent disease and a left parotidectomy revealed a 1.8 cm lymph node deposit of malignant melanoma. Surveillance PET imaging in December 2012 demonstrated evidence of further recurrence in bilateral cervical lymph nodes. A right modified neck dissection was positive for 1 of 6 lymph nodes notable for a melanoma deposit up to a diameter of 2 cm. Further surveillance PET CT imaging in May 2013 showed an interval increase in metabolic activity within the lesions in his neck, with additional metastasis to his chest, manubrium, and T5 vertebra (Figure A-1). Brain MRI was negative. Given his limited treatment options at the time and after a thorough discussion regarding the potential toxicities in the setting of known UC, it was decided to pursue ipilimumab immunotherapy. Cycle 1 was initiated in June of 2013. Six weeks later he was eventually hospitalized for steroid-refractory colitis characterized by colonoscopy as a moderate colitis with diffuse erosions, ulcerations, and pseudopolyps which resolved with a single dose of infliximab therapy. Further ipilimumab was held and the patient was followed for an additional two months before he was re-admitted for colitis and re-started on azathioprine and IV methylprednisolone followed by a slow prednisone taper in late September 2013. The patient did well until mid-November 2013 when he experienced an episode of acute abdominal pain prompting a diagnosis of colonic perforation and an urgent laparoscopic colectomy. Pathology showed extensive ulcerative colitis with evidence of a sigmoid perforation. Notably, PET CT imaging following his initial hospitalization showed an overall improvement in the FDG avidity of multiple sites of melanoma involving his chest wall as well as various osseous structures including the manubrium, right clavicle, and the T5 vertebral body (Figure A-2). After recovering from his surgery and receiving two monthly denosumab injections at 120 mg via subcutaneous delivery, he underwent additional re-staging with a PET CT showing evidence of disease progression (Figure A-3). After extensive discussion of potential toxicities including the development of proctitis and/or other autoimmune manifestations involving the hepatobiliary tract such as primary sclerosing cholangitis (PSC), it was determined in April of 2014 that re-induction therapy with ipilimumab in the setting of a total colectomy would be reasonable. He did well until 2 weeks after his second dose of ipilimumab when he reported a grade I limited pruritic rash and persistent dry cough for which he was started on mometasone inhaler and chlorpheniramine/hydrocodone. By five weeks into his ipilimumab regimen, the patient reported the development of a dry cough and two weeks following his fourth dose of therapy, he reported extreme fatigue and a reduction in stamina. Morning labs were drawn and found to be consistent with anterior panhypopituitarism prompting the initiation of hydrocortisone replacement therapy. Although his fatigue improved dramatically, he continued to report a persistent dry cough that was interfering with his sleep. His initial 4 week re-staging PET CT following therapy showed interval complete resolution of prior hypermetabolic FDG activity within the left level II cervical lymph node, the chest wall nodule, and foci in his manubrium, right clavicular head and T5 vertebral body (Figure A-4) with diminished FDG activity in a right level IV lymph node. At that time he was also found to have FDG activity along the length of the trachea consistent with a tracheobronchitis (Figure A). With this finding, he was placed on a 10 day prednisone taper which completely resolved his cough. He continued on monthly denosumab therapy until he underwent re-staging in October 2014 demonstrating a complete response (CR) to therapy. |
A 23-year-old female patient presented to us with progressive deformity of her lower limbs towards the right side. It had started at two years of age and had continued until 14 years. She had then undergone corrective surgery for windswept deformity, following which there had been no further progression. At 16 years of age, she had sustained bilateral hip fractures after trivial trauma. She had consulted an orthopedic surgeon for her fractures and had been advised surgery. However, the family had not complied with the advice, and the patient had restricted her treatment to the intake of calcium and vitamin D supplements. Subsequently, for the past seven years until her current presentation, she had been bed-bound. Gradually, she had developed contracture deformity of bilateral lower limbs.\nThe patient also had diffuse musculoskeletal pain that was moderate to severe in intensity. In the past six months, her pain had worsened. Also, in the past two years, she had developed gradually worsening low backache and stiffness. She had also developed stiffness around bilateral hip joints, elbows, and shoulders.\nShe had a history suggestive of proximal and truncal muscle weakness. She could not get up from her bed without support. Neurological examination revealed a power of 3/5 in the proximal muscles of both lower limbs and the truncal muscles. There was also a history of dental abscesses that had started at the age of five years. When she presented to us, she was edentulous.\nShe had received multiple intermittent courses of calcium, vitamin D, and calcitriol supplements without phosphate. She was the shortest among all her peers. Her exact height and weight could not be measured as she was bed-bound and had contracture deformity of lower limbs.\nHer brother, who was 18 years old, also had a similar history of windswept deformity of lower limbs, along with proximal myopathy and dental abscesses. His complaints had also started at an early age of four years. The windswept deformity had progressed until the age of 16 years. His manifestations were not as severe as that of our patient. He had not had any fractures. He could also ambulate without support.\nInvestigations of the patient revealed hypophosphatemia [serum phosphate of 0.5 mmol/L (normal range: 0.8-1.5 mmol/L)] with low tubular maximum reabsorption of phosphate to glomerular filtration rate (TmP/GFR) [0.2 mmol/L (normal range: 0.9-1.4 mmol/L)], suggesting renal phosphate loss. On urine analysis, there was no aminoaciduria, bicarbonaturia, glucosuria, or low molecular weight proteinuria, unlike in the case of proximal renal tubular acidosis. Blood gas analysis also revealed a normal blood ph [ph: 7.41 (normal range: 7.35-7.45)] and normal serum bicarbonate levels [serum HCO3: 24 mmol/L (normal range: 24-28 mmol/L)]. She had a normal hemogram, liver, and kidney function tests. Her serum total calcium was 2.2 mmol/L (normal range: 2.1-2.6 mmol/L), serum 25-hydroxyvitamin D (25(OH)D) was 164.5 nmol/L (normal range: 75-250 nmol/l), while serum intact parathyroid hormone was 6.3 pmol/L (normal range: 1.5-6.8 pmol/L). Serum alkaline phosphatase (ALP) was markedly elevated at 1,154 IU/L (normal range: 80-240 IU/L), suggestive of active metabolic bone disease. Her serum FGF23 was elevated at 97 pg/ml (normal range in our laboratory: <35 pg/ml).\nHer pelvic radiograph revealed protrusio acetabuli and prominent bony spurs along tendon insertions suggestive of osteosclerosis and enthesopathy (Figure ). This was co-existent with osteomalacia of bilateral tibia and fibulae with insufficiency fracture at left tibial diaphysis (Figure ). Her spinal radiograph revealed bridging osteophytic changes and dorsolumbar scoliosis (Figure ). A calcaneal radiograph revealed calcaneal spurs, suggestive of degenerative and osteosclerotic changes (Figure ), although frank ossification of the Achilles tendon was not observed. Skull radiograph showed cortical thickening at parieto-occipital calvaria and edentulous mandible, with loss of lamina dura (Figure ).\nGiven the early onset of FGF23-dependent hypophosphatemic rachitic disease, a possibility of XLH rickets was considered. Accordingly, a full gene sequence analysis of the PHEX gene was performed, which revealed a missense mutation of the PHEX gene.\nThe patient was started on calcitriol 0.25 ug twice daily and phosphate supplement at a dose of 30 mg/kg body weight/day in three divided doses. At the time of this write-up, the patient had completed one year of follow-up with us after the initiation of treatment. She has reported significant improvement in proximal myopathy along with the improvement of truncal weakness. Neurological examination revealed a power of 4/5 in the proximal and truncal muscles. There was also a significant decline in serum ALP to 634 IU/L (normal range: 80-240 IU/L), indicating improvement of metabolic bone disease. However, she did not have any significant improvement of the stiffness and pain around the joints. There was also not much improvement in her low backache. |
A 25-year-old female Irish patient presented with recurrent episodes of rhabdomyolysis since childhood. The first episode occurred at the age of 22 months following a respiratory tract infection. At that time, her creatine kinase (CK) serum concentration was noted to be 250 000 U/L.\nThe family history indicated that both parents were well. However, two siblings (brother and sister) had sudden death at the age of 2 and 4 years more than 20 years ago following a short infectious illness with sudden deterioration over a period of hours. In both cases, the children became progressively weak with severe muscle pain and had evidence of rhabdomyolysis and myoglobinuria of uncertain etiology. Skeletal muscle histology and electron microscopy studies at postmortem evaluation were normal in both children, cardiac evaluation demonstrated dilated cardiomyopathy. Notes pertaining to their clinical episodes were not available. On first presentation, our patient had no hypoglycemia and no ketosis during the acute illness, but was initially treated as a possible long chain fatty acid oxidation defect due to the family history.\nThe patient had numerous subsequent admissions with similar presentations of extremely elevated CK concentration (1 000 000 U/L at the age of 9) associated with muscle pain. This was despite aggressive carbohydrate supplementation including nocturnal cornstarch. Her fat intake from food was continually restricted to approximately 40 g/d. Her total fat intake was supplemented with the use of MCT Oil (medium chain triglycerides supplement) and essential fatty acids in the form of walnut oil. Coenzyme Q10 at a dose of 100-200 mg daily was provided on an ongoing basis. The CK concentration was also raised between the episodes (500-2000 U/L). She was advised to limit her exercise to 20 minutes per day and have high-calorie drink prior to any physical activity.\nExtensive investigations were performed over the presenting years with the lack of a definite etiology. Serial urine organic acid profile and the acylcarnitine profiles were normal. A fibroblast fatty acid oxidation study showed normal myristate and palmitate oxidation studies in fibroblasts. Genetic analysis for fatty acid oxidation defect (LCHAD, MCAD, CPT I, and CPT II) and McArdle disease was uninformative.\nAt the age of 16 years, mitochondrial respiratory chain activity measured in a muscle biopsy was normal, however morphological findings, such as intramyocellular lipid, were compatible with lipin-1 deficiency (Figure ). Her echocardiogram and electrocardiogram did not show any abnormal findings.\nAt the age of 19 years, DNA sequence analysis of the LPIN1 gene (all coding exons and flanking intron boundaries corresponding to the canonical transcript variant NM_145693.3) revealed the presence of a common pathogenic intragenic deletion within the LPIN1 gene (c.2295-866_2410-30del1763) encompassing exon 18 (HGMD accession: CG085181). However, a second mutation could not be identified.\nSubsequently, the LPIN1 coding region was analyzed by reverse-transcriptase PCR (RT-PCR) from total RNA isolated from muscle tissue and conventional DNA sequencing (Figure A,B). In addition to transcripts lacking exon 18 or exons 18-19 (corresponding to the allele harboring the genomic exon 18 deletion), an alternative exon spliced in between exon 5 and exon 6 was detected in a significant proportion of transcripts (Figure C,D). Because this alternative exon, named exon 5a, corresponded to an alternatively spliced in-frame exon annotated only in an N-terminal LPIN1 transcript variant (NM_001261428.2), further targeted DNA-based sequencing was performed. Indeed, this identified a second heterozygous variant (NC_000002.11:g.11916284C>A), which was formally regarded a nonsense mutation introducing a premature stop-codon within exon 5a (which would correspond to NM_001261428.2:c.942C>A, NP_001248357.1:p.[Cys314*]; Figure ). RT-PCR of total RNA isolated from healthy skeletal muscle detected exon 5a also in transcripts containing the first (noncoding) exon of the canonical isoform (data not shown). However, because exon 5a is currently not annotated to be contained in this main reference transcript (NM_145693.3), further studies will be needed to clearly establish pathogenicity of the novel variant.\nSegregation analysis in the patient's family revealed that her father and younger sister are heterozygous for the common pathogenic intragenic deletion (NM_145693.3:c.2295-866_2410-30del1763), while her mother was a heterozygous carrier of the variant within the alternative exon. Thus, the results of these molecular genetic analyses were formally consistent with the clinical diagnosis of LPIN1-associated rhabdomyolysis, due to compound heterozygosity for a known pathogenic deletion and potentially pathogenic novel mutation.\nAt the age of 25 years, the patient presented with acute muscle pain and weakness following prolonged fasting and strenuous exercise. A rhabdomyolysis crisis was confirmed with a CK of 500 000 U/L. She was admitted to intensive care unit (ICU) for a 2 week period over which period she lost a significant amount of weight. During her critical illness, she received an intravenous infusion of 10% dextrose at 1.5 times maintenance with added electrolytes, sodium bicarbonate, morphine, and dexamethasone. Intravenous carnitine was also provided as the patient had previously observed this to be clinically beneficial. She was treated symptomatically, with shortened fasting periods, corn-starch at night and an “unwell dietary regimes” with a mild restriction of fat (40 g per day) and supplementation with MCT oil and walnut oil for essential fatty acids and Liquigen 5 g daily. On day 11, her CK was monitored 4 hourly and was 1248 U/L. On discharge from ICU, this patient had generalized muscle weakness, stiff lower limb muscles (gastrocnemius), and bilateral drop foot requiring orthotic splints. Muscle weakness gradually improved after months of rehabilitative physiotherapy. Her drop foot has improved somewhat (power from 0/5 to 3/5 for dorsiflexion and extensor hallicis longus over 1 year) with areas of altered sensation anterolaterally below the knees consistent with bilateral residual common peroneal neuropathies (CPN). Serial nerve conduction/electromyography studies demonstrated bilateral CPN palsies and a background generalized myopathy. The most likely cause of this patient's weakness was a critical care neuromyopathy, which has improved with time, in addition to CPN palsies related to significant weight loss while critically ill. However, we cannot exclude the possibility that both defects were related to her lipin-1 deficiency. While myopathy has been reported in a few cases, CPN damage is not a known association of this rare metabolic disorder. |
A 65-year old male patient with early gastric cancer was transferred from Aruba to our institution. He had a 3-year history of black stools and anemia. His past medical history included multiple comorbidities: diabetes, chronic renal failure, alcoholic cirrhosis Child A, complete heart blockade and thrombocytopenia of unknown etiology. An upper endoscopy and biopsy revealed a well-differentiated intestinal type adenocarcinoma in the antrum. Endoscopic ultrasonography showed a hypoechoic, 3.2 cm neoplasm, without muscularis externa infiltration and reactive ganglia (). Endoscopic mucosal resection was chosen due to tumor size, stage and comorbidities of the patient. The tumor was fully resected without complications. At the end of the procedure the anesthesiologist had difficulty with ventilation and abdominal distention was observed (). He had a 128/91 mmHg blood pressure and 70 bpm heart rate. An endoscopic revision was done before finishing the procedure, without identification of any macroscopic perforation. A nasogastric tube was placed and therapeutic strategies to improve abdominal-wall compliance were instituted (changes in ventilation parameters, nasogastric suction, change to a supine position and removal of any strap over the abdomen). A plain abdominal radiography in the operating room showed a massive pneumoperitoneum (). Decision of a nonsurgical management was conducted and the patient was taken to the intensive care unit (ICU) for monitoring. The IAP measured by a trans-bladder catheter was 33 mmHg. Six hours after ending the procedure the patient developed dyspnea and anuria. The diagnosis of an abdominal compartment syndrome was established. Given the worsening status, interventional radiology evaluated the patient. A CT scan confirmed the massive pneumoperitoneum without intraperitoneal extravasation of contrast (a & b). A percutaneous decompression guided by CT scan was performed with a pigtail catheter G14 (c & d). Air was immediately released under pressure. Immediately after the procedure, the patient's symptoms and hemodynamic status improved. Diuresis returned after a few hours. The pigtail catheter was closed the first day after placement and taken out at the third postoperative day. Control CT scan revealed no evidence of pneumoperitoneum. Pathology report confirmed the resected specimen had free malignant cell margins and areas of high-grade and low-grade dysplasia. The patient was discharged from ICU at postoperative day 2 and discharged from hospital at postoperative day 5 without further complications. |
The index case is a 12-year-old female child with history of delayed walking and convulsions from 4 years of age, now presenting with progressive neck swelling and fever of one month duration. History of recurrent respiratory tract infection requiring hospital admission is present. Further history reveals that her youngest brother and maternal uncle had similar illness. Her maternal uncle had convulsions and was wheel chair bound at the age of 12 years. He died at 35 years of age because of respiratory tract infection. Paternal grandfather died of myocardial infarction at 45 years of age. There is a healthy second brother among the three siblings. Parents were healthy with no motor disability. There was no unexplained neonatal death, miscarriage or abortion in the family. They were born to second degree consanguineous parents and were full term, normal at birth.\nCourse of illness started with unsteady gait and easy fall at 4 years of age. Difficulty in walking progressively increased and presently the child is chair bound. These were associated with difficulty in swallowing and speech. History of recurrent sino-pulmonary infections requiring hospital admissions was present. Youngest sibling is 4 years of age and had first episode of convulsion at one and a half years of age. Mother noticed difficulty in walking at 2 years of age and presently he walks with support and has speaking difficulty.\nBoth the affected siblings were under nourished with growth parameters including head circumference under third percentile. There were no facial dysmorphism, but they have an expressionless face. Both the affected siblings have telangiectasia over bulbar conjunctivae [] and the eldest sibling has grey hairs. Bilateral cervical and axilliary lymph node enlargement largest of 3 × 5 cm was present in the eldest sibling.\nCardiovascular, respiratory and abdominal examinations were within normal limits. Walking was impossible without support in both the cases, pes cavus is noticed in the index case. Significant mental slowness with poor response was present. Features of cerebellar dysfunction such as cerebellar ataxia, dys-synergia, dys-arthia and intentional tremors are present. Deep tendon reflexes are diminished and the plantar responses are flexor. Ocular apraxia could also be demonstrated.\nAFP and CEA, which are markers of A-T, were checked. Both the affected sibling have raised AFP and normal CEA level. Dys-gamaglobinemia and MRI Brain showing cerebellar atrophy is found in the elder sibling [].\nBiopsy of axillary node in elder sibling was suggestive of anaplastic large cell lymphoma (CD15-, CD30+, ALK+). |
A 36-year-old female with a 2-year history of left HS and ST was admitted to our department in October 2012. The spasm was initially confined to the superior orbicularis oculi muscle, but gradually affected the entire left side of the face. Spasm was presenting with a frequency of 5-10 episodes per day and was painful causing severe limitations in the normal daily life. She had been treated with botulinum toxin two times before admission but the effect was temporary. Preoperative neurological examination documented a mild left hemiparesis, involuntary contractions of perioral and periorbital muscles of the left face and torticollis caused by intermittent tonic spasm of the left neck muscles. We also examined the blink reflex with registration from orbicularis muscle of the left eye and square muscle of the left chin (depressor labii inferioris). We performed stimulation of the left supraorbital nerve and chin nerve, but no R1 response after stimulation of both nerves was recorded. Electrophysiological findings conclusively proved the absence of ephaptic transmission at the level of the left VII cranial nerve.\nPresurgical MRI examination was performed using a 3T superconductive scanner. MRI basal examination showed a dominant left AICA in contact with ipsilateral IX, X and XI cranial nerves. Bidimensional image fusion was subsequently performed and another anomalous contact between a small AICA distal branch and the left facial nerve was demonstrated. MRI data were transferred to an independent workstation in order to obtain a “3D fusion.” To visualize the neurovascular conflict between AICA and lower cranial nerves [], the nervous structures were displayed in blue color and the arterial vessels in red. To visualize the neurovascular conflict between AICA distal branch and facial nerve [], the nervous structures and distal arteries were displayed in red color and the main arterial vessels in yellow.\nMVD was performed via a suboccipital retrosigmoid approach. The intraoperative findings showed a small distal branch of the left AICA transfixing the facial nerve in the intracisternal tract and a left dominant AICA marking the pons and, caudally, the lower cranial nerves, mainly the XI. After gentle retraction of the V cranial nerve, the VII nerve was dissected parallel to the axis at the site of arterial transfixing point to facilitate splitting up of the artery from the nerve. Microvascular decompression was performed with small pieces of autologous muscle at the point in which the transfixing artery penetrated the nerve, and between AICA, lower cranial nerve and brain stem, allowing the shifting of the vessel from the above-mentioned structures []. No intraoperative complications were observed. The postoperative course was uneventful with no signs of cranial nerves deficits. The HS and ST gradually improved 2 days after surgery. There was also a mild improvement of the left hemiparesis. At 4 months of follow-up the patient had completely recovered. |
The patient is a 21-year-old right-hand-dominant male who presented to the emergency department one hour following injury to his left hand. He is an active-duty military male with no comorbidities who was running as part of a physical training exercise. During the run, he jumped and attempted to strike a stop sign with his left hand when his wedding band caught on the top of the sign causing a ring avulsion type injury to his left ring finger. His wound was dressed, and the amputated digit was wrapped in a latex glove and placed in a plastic bag of water and ice.\nUpon initial examination, the patient was noted to have sustained a complete amputation of his ring finger at the level of the middle phalanx proximal to the FDS insertion with significant circumferential soft tissue degloving (Figures -).\nThe patient reported intact sensation to both the radial and ulnar aspects of the finger proximal to the injury, and complete avulsion of the radial and ulnar proper digital neurovascular structures was noted. With the nearest replantation center approximately 100 miles away, a warm ischemia time of 2-3 hours from injury at point of contact, and the significant extent of soft tissue injury, it was determined that the likelihood of successful replantation was low, and revision amputation with primary closure or coverage was recommended to the patient.\nConsent was obtained for debridement and primary closure versus graft coverage. Local anesthesia was achieved with a digital block, and a thorough bedside irrigation and sharp debridement were performed under the supervision of the senior staff. The avulsed radial and ulnar arteries were tied off with 4-0 nylon suture. The middle phalanx, which had essentially been skeletonized by the injury, was shortened with a rongeur in an initial attempt to obtain soft tissue coverage. Adequate soft tissue coverage was still not possible despite step-wise shortening of the middle phalanx to the point of complete removal through the PIPJ. The decision was then made to take the extra time to create a full-thickness skin graft from the amputated digit. This would be performed in order to provide adequate soft tissue coverage to the underlying bone and neurovascular structures and increase the likelihood of graft uptake due to the use of autologous tissue, and with the hope of avoiding a future, scheduled trip to the operating room.\nEvaluation of the amputated digit revealed the soft tissue envelope to be intact; the flexor digitorum profundus tendon was also intact and had ruptured proximally from its myotendinous junction in the forearm while still maintaining its insertion at the base of the distal phalanx of the amputated part. The amputated portion of the digit was sterilized in a 10% betadine prep solution. Longitudinal incisions were made on the radial and ulnar sides and connected at the distal tip of the amputated finger to form a fishmouth-type incision. The incision was taken to the bone with a no. 15 blade, and the soft tissue was carefully dissected away from the bone and nail bed. The size of the required graft was then templated and the excess tissue was removed. Subcutaneous fat was excised to the level of the dermis as possible. The graft was secured with 4-0 Prolene suture (Ethicon, Somerville, NJ, USA) in a simple interrupted fashion (Figures , ).\nA sterile dressing consisting of Adaptic™ non-adherent dressing (3M, St. Paul, MN, USA), 4x4 gauze, and loosely wrapped Kerlix™ (Cardinal Health, Dublin, OH, USA) was applied in addition to an AlumaFoam® splint (Hartmann USA, Inc., Rock Hill, SC, USA) secured with Coban™ wrap (3M) (Figure ).\nThe patient was discharged the same day from the emergency department with a prescription for double-strength Bactrim to be taken two times per day for 14 days. He was instructed to follow up in the clinic the following day for wound evaluation.\nAt the initial follow-up, the patient maintained complete coverage of the injury without evidence of necrosis or drainage. He had intact sensation throughout the remaining finger. Nonoperative wound care and monitoring for incorporation of the graft was elected for further treatment. The patient was seen on a weekly basis for the following two weeks with non-weight-bearing restrictions. He continued to demonstrate signs of healing and graft incorporation, with definite signs of central perfusion and only minor ischemia medially and laterally. At his six-week follow-up, he was evaluated for suture removal and was noted to have developed a seroma. His sutures were removed and a small incision was made in the graft in the office to allow for fluid evacuation (Figures , ).\nHe was allowed to return home with continued wound care and occupational therapy. At the final follow-up, the graft had fully healed with appropriate vascularization and full sensation over the radial and ulnar aspects (Figures , ).\nHe was cleared to return to full active duty without restrictions. |
A 65-year-old male presented to our hospital due to intermittent claudication of both legs and swelling in his left leg. The claudication had started 4 weeks earlier and was ongoing at the time of presentation, and the pain had worsened. His left lower limb had become swollen 2 weeks before admission. On admission, the pulsation of his bilateral femoral, popliteal, and anterior tibial arteries was weak. The ankle-brachial index (ABI) was significantly low bilaterally.\nUltrasonography showed that there were massive thrombi in the veins extending from the left external iliac vein to the left popliteal vein (). At the same time, there was no discernible arterial blood flow from the infrarenal abdominal aorta to both the common iliac arteries. Further, the inside echo of the occlusion site was low, so the occlusion seemed to be due to a thrombus. Pulmonary thromboembolism was ruled out by echocardiographic examination. The echocardiography showed normal left ventricular function (left ventricular ejection fraction 73%), mild left ventricular hypertrophy, and no tricuspid regurgitation. We considered that if pulmonary thromboembolism had occurred, the grade was not severe. In the computed tomography (CT) findings, the terminal aorta was occluded with thrombus and there was a venous thrombus in his left iliac vein that appeared in the proximal site that was compressed by the left common iliac artery (). The patient was diagnosed with Leriche syndrome accompanied with DVT. His thyroid function tests were normal and his hypercoagulable workup including serum protein C, protein S, anti-cardiolipin antibodies, and lupus anticoagulant antibody was found to be negative.\nOn day 1, a temporary inferior vena cava (IVC) filter was inserted to prevent pulmonary embolism. Oral warfarin administration and intravenous heparin infusion were started for DVT. Oral cilostazol (200 mg/day) was started for ischemia of the lower extremities. Coronary angiography (CAG) and aortography were done to plan the treatment strategy. There was 75% stenosis in the middle of the left circumflex coronary artery; however, he had no chest symptom, so we decided to continue observation with oral medication.\nWe planned the treatment strategy as follows. CT showed that the terminal aorta was occluded with thrombus. The high density area was observed in low density area (). It seemed that thrombus was comparatively fresh. The patient had received abdominal surgery for intestinal obstruction about 20 years before, so the adhesion of abdominal organs was suspected. Therefore, we decided to perform EVT for Leriche syndrome.\nFollowing local anesthesia, a 90 cm 6F sheath was inserted from the right brachial artery and advanced to the distal abdominal aorta. The 6F sheath was placed in the right femoral artery and a 7F sheath was placed in the left FA. The proximal fibrous cap of the occlusion site of terminal aorta was penetrated by using a multipurpose catheter and a 0.035-inch Radifocus guidewire (GW) (Terumo Corp., Japan). Then the Radifocus GW was exchanged for a Treasure XS12 (Asahi Intec Co., Aichi, Japan) and crossed from the aorta to the left external iliac artery. A Corsair PV (Asahi Intec Co., Aichi, Japan) was crossed from the left femoral artery to the aorta by the Rendez-Vous Technique, and we exchanged the GW for a Runthrough Ph guidewire (Terumo Corp., Japan). Next, we crossed the Corsair PV and Treasure XS12 from the right femoral artery to the aorta and exchanged the GW for the Runthrough Ph. The intraluminal position of the GW was confirmed by the intravascular ultrasound. After the two wires were successfully passed through, the thrombi were aspirated using a Thrombuster II for 8F aspiration catheter (Kaneka Medix Corp., Japan) and next with a 6F guide catheter Heartrail BL3.5 (Terumo Corp., Japan). The occluded segments of the bilateral iliac arteries were predilated simultaneously with either of the two 4.0 mm balloons. After that, an Epic 10 mm (98 mm) and a 10 mm (80 mm) stent (Boston Scientific, Natick, MA, USA) were inserted from the right common iliac artery and advanced to the aorta. Also, an Epic 10 mm (98 mm) and a 10 mm (60 mm) stent were inserted in the left iliac artery from the left common iliac artery and advanced to the aorta, and postdilatation of the bilateral stents was performed simultaneously with two 5.0 mm balloons. The final angiogram showed no thromboembolism in the distal arteries (Figures and ).\nThe clinical course after the EVT is showed in . The ABI dramatically improved (right 0.21 to 0.97 and left 0.27 to 0.98). On day 12 after EVT, the ultrasonography revealed that the venous thrombi in his left leg had decreased (). On day 17 after EVT, the IVC filter was removed and the patient was discharged on the 28th hospital day (20th day after EVT). |
We report a rare case of IVC aneurysm in a 22-year old Afghan-Iranian male patient. The patient had a history of blunt abdominal trauma one week prior to his referral to the emergency department of our center. On his initial abdominal trauma, a complete physical examination and focused assessment with sonography for trauma (FAST) was done. The investigations were normal and the patient was discharged from the emergency department. The patient has had vague abdominal pain after his discharge.\nOn the referral of the patient to our center, we planned an abdominopelvic computed tomography (CT) scan with oral and IV contrast. The scan illustrated an IVC saccular aneurysm originating from right side of the IVC below the renal veins (). We assumed two possible etiologies. The aneurysm could incidentally and in another hand it could be related to the patient’s recent history of abdominal trauma. Magnetic resonance venography was also conducted and it also confirmed the diagnosis of a saccular type III IVC aneurysm ().\nWe planned open resection and repair of the aneurysm. A midline laparotomy was done. After thorough exploration of the abdominal and pelvic cavities, a right medial visceral rotation was conducted by mobilization of the right colon and a Kocher maneuver (The Cattel-Braasch Maneuver). The right kidney was left in situ. The entire sub-hepatic IVC was exposed. A saccular aneurysm with dimensions of 4*5 cm was found on exploration (). The aneurysm was located below the renal veins and the neck of the aneurysm was at the right side. The aneurysm was confined to the infrarenal IVC and there was not any associated venous anomaly. Thus, it was a type III saccular IVC aneurysm. A partial Satinsky clamp was applied posterior and left to the site of aneurysm origin on IVC and a longitudinal incision was done anterior to the neck of the aneurysm. Then, the entire aneurysm was resected. The neck of the aneurysm was closed with lateral venorrhaphy by running 6.0 polypropylene sutures ().\nThe patient had well recovery after the operation. Postoperative anticoagulation was administered by unfractionated heparin and warfarin. Warfarin anticoagulation was continued for three months to prevent venous thrombosis and probable pulmonary embolism. The patient’s follow-up did not reveal any morbidity. Postoperative CT scan was also conducted on seventh postoperative day. Postoperative appearance of IVC was normal (). |
A 42-year-old woman presented with a left upper abdominal distention, early satiety and discomfort. There was no family history of hematological or splenic disorders. There was no evidence of thrombocytopenia, hemorrhagic episodes, hepatomegaly or lymphadenopathy. The patient had received estrogen therapy as treatment for endometriosis for 10 years, but she discontinued this medication 12 years prior to her presentation to our unit. The patient had a palpable mass in her left upper abdomen. The mass could be palpated approximately 9 cm below the left costal margin. Her full blood count was in the normal range.\nInitially a spiral computed tomography (CT) scan with IV contrast showed multiple hypodense lesions with centripetal filling in delayed venous phase compatible with hemangiomas. Two large lesions were located in the right hepatic lobe and multiple smaller ones in the caudate and left lobe. All these hepatic lesions were consistent with the features of hemangiomas.\nThe CT scan also showed a large hemangioma-like formation in the left abdomen. It was difficult to determine whether this originated from the spleen or from the left adrenal gland, and a large cyst of the right ovary, suspicious of endometriosis (Figure ), was also observed. The MRI scan, undertaken subsequently, was no more helpful and also raised the suspicion of an adrenal tumor.\nSelective arteriography of renal arteries, SMA (superior mesenteric artery), and the celiac trunk, undertaken to clarify the vascularity of the lesion, showed a giant splenic hemangioma with its vascular supply deriving from the splenic artery (Figure ).\nWe decided to proceed to splenectomy because of the possibility of malignant transformation and of rupture and massive bleeding, complications which have been reported by other authors [,,]. The patient underwent elective splenectomy and right ovarectomy. The spleen was 20 cm at its largest dimension, with areas of rupture and creation of local central hematomas (Figure ). Pre-splenectomy vaccination was administered 2 weeks prior to surgery.\nHistology of the spleen showed a large hemangioma with central foci of hematoma (Figure ). At the periphery of the hematoma and inside the splenic parenchyma, there were many blood-filled spaces surrounded by dilated vessels (Figure ). The internal surface of the ovarian cyst was lined with cylindrical endometrial epithelium and with endometrial stroma and occasional endometrial glands underneath. The histological findings confirmed the diagnosis of a cavernous hemangioma with hemorrhage and hematoma formation and of an ovarian cyst with endometriosis. The postoperative course was uneventful and 1 year after surgery the patient has remained symptom free. |
A 55-year-old male patient reported with mild swelling and pain in the left zygomatic region. The history of present illness revealed that the patient had noticed the swelling in the last few weeks and it also had an associated intraoral ulcer. The patient was a known diabetic who was under medication. He had a habit of smoking cigarettes for the past 15 years. He smoked almost 15 cigarettes per day. The clinical examination revealed a firm swelling in the left zygomatic region measuring approximately 3 cm to 5 cm. It was mildly painful on palpation. The left maxillary region had significant paresthesia, nasal obstruction, and episodes of pain. A palpable left submandibular lymph node was present, which was also tender and fixed. The cervical lymph node on the left side was also palpable (Figure ). The intraoral examination revealed an ulceroproliferative growth measuring 4 cm to 6 cm in dimension.\nThe lesion was extending in relation to teeth 23, 24, and 25. The ulcer was covered with necrotic slough. Purulent discharge and bleeding were present in the lesion. The other teeth in the quadrant were missing (Figure ). A panoramic radiograph revealed extruded teeth 23, 24, 25.\nThere was increased radiopacity in the left maxillary sinus (Figure ). Water’s view showed the opacification of the entire left maxillary sinus.\nAn intraoral extension of this mass was also evident. The inferior, posterior, lateral, and medial walls of the left maxillary sinus appeared to be destroyed (Figure ). A computed tomography (CT) scan showed a lesion extending into the maxillary space and the nasal cavity. A heterodense soft tissue lesion showing heterogeneous contrast enhancement in the left maxillary sinus and hard palate with the destruction of the posterolateral wall, medial wall, and floor of the left maxillary antrum, extending into the adjacent retro maxillary space and medially extending into the left nasal cavity, obliterating all meati with the destruction of nasal turbinates. It was also inferiorly extending into the oral cavity. The CT was suggestive of carcinoma antrum. The CT was sufficient to understand the extensions of the lesions and the destruction of nasal turbinates. Further radiological investigations were, hence, not considered.\nConsidering the patient history and clinical features and the fact that patient was experiencing paresthesia, a biopsy was deemed mandatory (Figure ). On microscopic examination, the given hematoxylin and eosin (H&E)-stained soft tissue section showed dysplastic epithelial islands arranged in sheets and nests, invading fibrovascular stroma.\nAs shown in Figure , the dysplastic epithelial cells exhibited an increased nuclear-cytoplasmic ratio, individual cell keratinization, and increased mitotic figures.\nKeratin pearl formation was also evident, suggestive of well-differentiated squamous cell carcinoma. The patient was referred to the maxillofacial surgery department and briefed on surgical and chemotherapeutic treatment modalities. As the patient was from a poor socio-economic background and had also reported at an advanced stage, he declined treatment and was advised palliative management. The palliative treatment mainly concentrated on the pain relief and nutritional needs of the patient. The patient was treated with acetaminophen and, later, with stronger medications like opioids to manage pain. A feeding tube was inserted into the stomach through the throat since the patient was having extreme difficulty in swallowing. Sadly, the patient succumbed within a few weeks. |
A 34-year-old Polynesian woman, presented to the Gynaecology services with intermittent vaginal bleeding and a raised total serum hCG of 96 IU/L (Abbott Architect, Abbott Laboratories. Reference Range < 5 IU/L) which was confirmed on weekly serial hCG levels over the preceding month. She did not have a significant past medical history or family history and was not on regular medications. Her reproductive history included four live births (the most recent was a term pregnancy six months prior to presentation), a spontaneous miscarriage and a termination of pregnancy. Histological analyses of the products of conception for the latter were not available.\nClinical examination was unremarkable apart from a palpable right breast lump, shown to be consistent with lactational change on mammogram and ultrasound investigation. Pelvic ultrasound did not reveal an obvious ectopic pregnancy or underlying mass. She underwent a laparoscopy and dilation and curettage to exclude an ectopic pregnancy or malignancy. The histology from endometrial curettings was normal. The patient elected to have bilateral salpingectomies performed at the same time as her family was complete.\nThe initial working diagnosis was of an occult ectopic pregnancy and the patient received two doses of intramuscular methotrexate. The total hCG levels did not change and she was referred to the Gynaecologic Oncology Multi-disciplinary Meeting (MDM). The outcome of the MDM review was a referral to the Medical Oncology services with a presumed diagnosis of gestational trophoblastic neoplasia (GTN) — persistently raised total hCG for more than six months following an antecedent term pregnancy. Repeat imaging with a transvaginal ultrasound, CT body and MRI head did not reveal any abnormal findings apart from an incidental finding of an enlarged right axillary node which was shown to be a reactive node on biopsy.\nTreatment options for gestational trophoblastic neoplasia were discussed, including systemic chemotherapy with methotrexate or total hysterectomy. The rarer diagnosis of placental site trophoblastic tumour (PSTT) was considered, for which primary treatment is a radical hysterectomy. The patient was reluctant to undergo chemotherapy and because of the possibility of occult PSTT, she was referred for a total hysterectomy.\nDuring the diagnostic work-up, serum and urine samples were sent to the USA hCG Reference Service based in the United States for further analysis. This revealed a raised total hCG in both serum and urine (206 IU/L and of 215 IU/L respectively, Siemens Immulite, Siemens Healthcare Global. Reference Range < 5 IU/L), excluding a false positive hCG test. Additionally, the follicle stimulating hormone level of 4.6 IU/L (Siemens Immulite, Siemens Healthcare Global) was within normal range for a woman with normal menstrual cycle and excluded a pituitary source for hCG. She had a low hyperglycosylated hCG level of < 5.5 IU/L (microtiter plate assay, USA hCG Reference Service. Reference Range < 5.5 IU/L) or < 2.7% of total hCG which excluded active gestational trophoblastic disease (GTD) although quiescent GTD remained a differential ().\nIn the absence of radiological and histological evidence for occult malignancy and given the initial laboratory findings, a rarer differential of familial hCG syndrome was thus considered. The Siemens Immulite assay detects hCG missing the ß-subunit C-terminal peptide segment (CTP), nicked hCG and hyperglycosylated hCG equally. Her total hCG measured with the Siemens Immulite assay was 206 IU/L. The Siemens Dimension assay which utilises carbohydrate-sensitive detection antibodies directed towards the ß-subunit CTP alone gave a lower total hCG level of 87 IU/L. A subtraction of the two values (206 IU/L − 87 IU/L), representing the amount of total hCG molecules missing the CTP, gave a raised value of 119 IU/L. The Johnson and Johnson non-CTP based hCG assay, which detects hCG free ß-subunit levels, returned a level of 175 IU/L, equivalent to 85% of the total hCG (206 IU/L). The predominance of free ß-subunit is a hallmark for the familial hCG syndrome. ().\nWe were then able to obtain heparin plasma samples from her four children and tested them with the Abbott Architect and Roche Cobas total hCG assays (). All four children had raised total hCG levels. The free ß-subunit predominance, the raised total of hCG molecules missing the C-terminal peptide, the elevated hCG levels in all her children and the absence of hyperglycosylated hCG were in keeping with the diagnosis of familial hCG syndrome.() The patient was counselled that she did not require a hysterectomy nor further oncological treatment. |
A 7-year-old female child visited the depart ment of pedia-tric medicine with a chief complaint of swelling in the left ankle since 2 weeks (). The patient was already a known case of congenital insensitivity to pain and anhy-drosis. The condition was diagnosed as osteomyelitis of the left ankle (Charcot’s joint, osteoarthritic neuropathy) () and treatment was initiated for the left ankle. The patient was then referred to the department of pediatric dentistry as she was having bite injuries in the oral cavity.\nThe family history revealed that the patient was the first child of a consanguineous marriage (first degree relat ives) and had a younger sibling. It was observed that the patient had a waddling gait and subnormal intelligence. The speech development was poor and the child had difficulty in concentrating and understanding. The physical examination disclosed that the patient had dry skin and wounds along with degenerated nails on many of the digits of the hands (). The mouth opening was restricted (27 mm) (). This was her second visit to the dentist.\nThe intraoral examination revealed a soft tissue injury on the tongue and cheeks and she had mixed dentition. The lower arch was edentulous except for the permanent first molars and decay was observed on 54, 64, 36 and 46 (). The maxillary incisors showed Ellis class I fracture (). The orthopantomograph exposed missing permanent tooth buds were and her mother told that the child had the habit of plucking out teeth as soon as they are erupted into the oral cavity due to irritation. This might be attributed to the absence of permanent tooth buds. Also, severe bone loss and dental caries involving the pulp in relation to 36 was noticed (). A lateral cephalogram taken to evaluate the maxillo-mandibular relationship revealed the absence of tooth buds and severe mandibular prognathism ().\nMagnetic resonance imaging was advised by the department of neurology and pediatrics to assess the development and condition of the brain (). The MRI revealed no obvious abnormality in the development and the condition of the brain. Radiographs of the feet revealed Charcot’s joint ().\nThe treatment was planned under general anesthesia due to the mental condition of the child. A multidisci-plinary approach was planned with the neurology, pediatrics and dermatology departments. Access opening in relation to 36 was done but due to the limited mouth opening negotiating the canals proved impossible. So triple antibiotic paste was filled in the pulp chamber and a permanent restoration was done (). Composite restorations were done for the fractured maxillary incisors (). Simultaneously, a full thick excision skin biopsy and a nerve biopsy were also performed to assess the severity of the condition ().\nThe skin biopsy revealed orthokeratotic squamous epithelium with papillomatosis () and dermis showing adnexal structures which did not show any nerve fibres (). Sections from the sural nerve biopsy showed reduction in the small unmyelinated and myeli-nated nerve fibres. However, the large fibres were normal (). |
A 50-year-old lady presented to out-patient orthopedic clinic with pain in the neck since 3 months and weakness in her right upper limb of 2 months duration. The general physical examination was normal; she had tenderness over C4 and C5 vertebra with sensory and motor deficit (power 3/5) in right upper limb. A right upper quadrant abdominal lump was also discovered during the examination. The patient was put on a hard cervical collar and analgesics were advised. Orthopedicians planned a magnetic resonance imaging (MRI) scan of cervico-dorsal spine and a bone scan. An ultrasound scan of the abdomen was also done to evaluate the incidentally found abdominal lump.\nThe MRI scan showed altered marrow signal intensity in right half of C4 vertebra and posterior neural arch with paravertebral soft tissue thickening plugging the right C3/C4 neural foramen and encasing vertebral artery []. The bone scan showed an osteolytic lesion in right side of C4 vertebra with increased uptake over mid cervical vertebra. In addition, there was increased focal uptake on the left side of manubrium sterni. Ultrasound scan of the abdomen revealed a large ill-defined heterogeneous mass lesion in the area of gall bladder, which was infiltrating into adjacent liver; the gall bladder was not separately visible. A diagnosis of metastatic lesion in the sternum and C4 vertebra causing cord compression was made and a general surgeon's opinion was sought for the ultrasound findings.\nThe history was reviewed; she complained primarily of neck pain with weakness in her right upper limb of 3 months duration which was increasing progressively from 2 months. As we were biased by the ultrasound findings, some direct questions were asked to which she responded by stating some discomfort in her left upper abdomen from last 7 months and decreased appetite from last 4 months. There were no complaints on the right side of abdomen. She related her symptoms to ‘indigestion’. On re-examination, we found her to be of medium built with average nutrition. The general physical examination was essentially normal. Abdominal examination revealed mildly tender, irregular, and hard lump measuring 5 × 4 cm in her right upper abdomen, which was moving well with respiration with surrounding hepatomegaly. A clinical diagnosis of carcinoma of gall bladder was made and a contrast enhanced computed tomography (CECT) scan of abdomen was advised for staging. The CT scan showed a poorly differentiated heterogeneous mass lesion replacing gall bladder with extension into the segment 4 and 5 of liver []. For histological confirmation, an ultrasound (USG)-guided fine needle aspiration cytology (FNAC) was performed from the mass which showed well-differentiated adenocarcinoma of the gall bladder. The patient and her relatives were explained about the nature, stage and likely poor outcome of the disease. She was offered chemotherapy and local radiotherapy for the painful spinal lesion but she opted for ‘no treatment’, left the hospital, and was subsequently lost to follow-up. |
A 70-year-old female with no significant past medical history, Eastern Cooperative Oncology Group performance status 0 and no prior incidence of hypersensitivity reactions, was incidentally found to have a small nodule in the proximal right posterolateral vaginal wall after presenting with post-menopausal bleeding. Subsequent biopsy demonstrated a 9 mm invasive melanoma and the patient underwent wide local excision with confirmed negative margins. 4 months later, she developed a right periclitoral mass. Positron emission tomography/CT scan at that time demonstrated focal uptake in this area but no regional/distant metastases (). Excision demonstrated a large submucosal mass of atypical epithelioid cells with evidence of melanin synthesis, consistent with malignant melanoma. Breslow depth was 9 mm (3 mitoses/mm2) with a positive deep margin, and there was no evidence of lymphatic invasion. Her case was presented at a multidisciplinary tumour board and either additional surgery or radiation therapy was recommended to the patient. Owing to the significant morbidity anticipated with additional surgery, the patient opted for radiation therapy. Given the high risk of both local and regional/distant failure, concurrent chemotherapy was proposed. Owing to the historically poor response rates with standard chemotherapy, an immune pathway targeted agent was considered. This non-standard approach was actually initially proposed by the patient. After being thoroughly explained the current standard of care, in addition to the pros and cons of pursuing concurrent radiation and immunotherapy, the patient chose to proceed with combination immunotherapy and radiation treatment. Several studies have demonstrated that local radiotherapy primes and/or enhances an immune response through cytotoxic T lymphocytes. Concurrent immunotherapy may then further enhance the activity and/or duration of the downstream immune response. Given the historically low efficacy of our current treatment paradigms in this disease, as well as the preclinical/clinical rationale to combine radiation and immunotherapy, a strategy of pursuing a combination of ipilimumab with radiation was felt to be reasonable.\nRadiation was planned with intensity-modulated radiation therapy (IMRT) to the vulva and vagina (no elective nodal radiation to the groin) to an initial dose of 45 Gy (1.8 Gy/fraction over 25 fractions), and was to be followed by an electron boost to a total dose of 63 Gy (1.8 Gy/fraction over 10 fractions) at the site of the positive margin (). A thermoluminescent dosimeter was placed on the vulva at the start of treatment to measure the skin dose and read as 1.78 Gy [95% confidence interval (1.66–1.90)], confirming that the planned dose was accurate on the skin. The patient received her first cycle of ipilimumab (3 mg kg−1) 7 days after the start of radiation, and the second cycle was delivered 3 weeks later when the patient was at a dose of 36 Gy. Around this time (3 weeks post ipilimumab cycle 1), she began to develop non-painful erythema in the vulvar and perianal area, as well as a pruritic, grade 2 cutaneous eruption that morphologically showed distinct erythematous papules that coalesced into thin plaques over the upper arms, chest, back and face/ears (all toxicities were graded using Common Terminology Criteria for Adverse Events version 4.03). She did not experience any fevers or other systemic symptoms. By 48.6 Gy dose (10 days post ipilimumab cycle 2), the patient developed a grade 3 skin reaction () that was characterized as a moist desquamation with significant oedema, erythema and pain in the vaginal/vulvar/perianal region and was restricted to the radiation field (). A timeline of these events is illustrated in . After proper consent, a 4 mm punch biopsy of the affected skin was performed and histopathological examination demonstrated spongiotic and interface dermatitis with a perivascular inflammatory infiltrate consisting of numerous eosinophils, consistent with a fixed drug eruption.\nRadiation and ipilimumab were held given the severity of the moist desquamation, and the patient was referred to a dermatologist for evaluation of the ipilimumab-associated cutaneous eruption. It is noted that the patient had no existing risk factors or hypersensitivities predisposing her to an enhanced skin toxicity. The patient was started on 0.1% topical triamcinolone cream along with a methylprednisone dosepak. Given only mild improvement after 1 week, she was started on prednisone 60 mg daily (tapered over 7 days) with oral diphenhydramine for pruritus as needed. This resulted in significant improvement in her cutaneous eruption and pruritus. She then received a third cycle of ipilimumab (4 weeks after cycle 2) and resumed her periclitoral radiation boost without further issues after a 1-month break from radiation treatment. She went on to receive a fourth cycle of ipilimumab after completion of radiation without any complications.\nAt follow-up 8 months post completion of radiotherapy, she had complete resolution of the in-field toxicity and improvement of her ipilimumab-associated cutaneous eruption (). Clinical examination and positron emission tomography/CT imaging 10 months after completion demonstrated no evidence of disease recurrence. Most recently, at her 15-month follow-up, she remains disease- and symptom-free ().\nAt each follow-up visit, the patient has repeatedly expressed satisfaction with her decision to pursue immunotherapy rather than standard chemotherapy to complement her radiation treatment. She admits the initial side effects and intensity of the treatment course were difficult, although she is very pleased with the outcomes and would make the same decision if asked to do so again. |
A 31-year-old man was admitted to our hospital, complaining of hematochezia which had lasted for 1 month. His past history involved a high anterior resection of the rectum in our hospital due to intussusception caused by Peutz-Jeghers polyposis (Fig. ). He was hospitalized for 1 month after the procedure. Unfortunately, details of the surgical procedure that had been performed and the reason for his extended postoperative hospitalization were unknown, because clinical records from his previous admission were not available. He was followed up for 3 years after the procedure, during which he had no abdominal symptoms. He remained symptom-free until the month prior to readmission when he began to suffer from hematochezia. On this admission, hematochezia was his only symptom and there were no abnormal abdominal findings on physical examination. Blood test results, including levels of tumor markers, were all within normal limits. Colonoscopy revealed a hemorrhagic tumor with a smooth surface protruding from the anastomosis of the previous high anterior resection, at a distance of 10 cm from the anal verge; a second examination 4 days later revealed that the tumor had disappeared (Fig. ). The biopsied tumor and other small polyps were histologically diagnosed as adenocarcinoma and hamartomatous polyps, respectively (data not shown). We performed a low anterior resection of the rectum, including the anastomotic site with the adenocarcinoma, combined with a resection of the ileum for strong adhesion. The patient was discharged from our hospital 42 days after the operation.\nGross appearance of the resected rectum showed a defect of the rectal mucosa with a smooth edge and a mucosal bulge located at the anastomotic site (Fig. ). Cut surfaces demonstrated a submucosal tumor mainly occupying the proper muscle layer under the defect (Fig. ). Microscopically, the submucosal tumor comprised an adenocarcinoma and a bone lesion at the anastomotic site (Fig. ). The surface of the tumor was covered with granulation tissue (Fig. ). The bone lesion not only included the carcinomatous glands but also normal glands in the bone tissue (Fig. ). In addition, we identified the incorporation of the normal mucosa in the submucosal fibrosis at the anastomotic site (Fig. f). |
The patient was a 55-year-old male entrepreneur, who had been experiencing pain of moderate intensity in the mid third of his left thigh for approximately 6 days. He sought emergency care at a hospital in response to a sudden increase in the intensity of the pain combined with swelling at the site of pain. He had a history of smoking equating to approximately 37 pack years. He did not have any other comorbidities. On physical examination he was slightly pale, with tachycardia (120 bpm) and blood pressure at 100 x 70 mmHg. Physical examination by segments was unremarkable for the head and neck, thorax, and abdomen. Vascular examination of the right lower limb found normal auscultation and visual inspection results, with all pulses present and normal. The left lower limb was well-perfused, but there was ecchymosis and a pulsatile swelling between the mid and distal thirds of the thigh, in the anteromedial region ( a). Inspection of the left foot also revealed signs of distal microembolization ( b) and popliteal and distal pulses were absent.\nUltrasonography of the left thigh showed an aneurysmal dilatation of the SFA measuring 5.8 x 5.3 cm and with associated mural thrombi and perivascular accumulations compatible with a ruptured aneurysm ( ). Since angiotomography was not available at the service providing care, the decision was taken to perform emergency surgical treatment.\nDuring the procedure, extensive hematoma was observed involving subcutaneous and muscle tissues in the anteromedial region of the thigh. Once this had been removed, the ruptured SFA aneurysm could be seen ( 3b). There were no obvious signs of active infection. Proximal and distal ligatures were performed and then the aneurysm was resected and samples collected for anatomopathological and microbiological analyses. Revascularization of the limb was then accomplished by interposition of the contralateral great saphenous vein in reverse, with end-to-side anastomosis – taking into consideration the diameter of the femoral artery and the significant destruction of its walls, as illustrated in c. The contralateral saphenous vein was used both because of the probability of associated damage to deep veins in the limb involved in rupture and because of the greater likelihood of injury during dissection, due to anatomic distortions. There were no intercurrent conditions during the procedure\nThe patient was prescribed prolonged, wide-spectrum antibiotic therapy until the results of the microbiological culture of the aneurysmal fragment were available, showing no evidence of growth of microorganisms. The anatomopathological analysis found true aneurysmal walls, with no specific abnormalities. Supplementary imaging exams did not identify any additional aneurysms or any evidence of valve vegetations suggestive of endocarditis.\nAt 1-month follow-up, the patient had palpable distal pulses and was free from pain or other problems. |
A 38-year-old man with no past medical history presented to the ED for four months of progressively worsening dyspnea on exertion and nonproductive cough which increased at night. During the past month, he also noticed the gradual development of a nontender erythematous right ear mass, which he had not been aware of previously. He had lost 20 pounds of weight in the past eight months but did not report night sweats or cervical or axillary lymphadenopathy. There was no associated dysphagia, headaches, changes in vision or hearing, sputum production, or hemoptysis. Family history was significant for a sister diagnosed with cervical cancer at age 28.\nHe had seen his primary care physician at the onset of cough and dyspnea, who suggested over the counter cough suppressants for a presumed viral illness; no further laboratory or radiological investigation was done at the time of initial presentation. When his symptoms worsened, his primary care physician advised him to go to the ED for further evaluation.\nHis examination was significant for a heart rate of 110 beats per minute and decreased breath sounds in the right lower lung field. Of note, there was a nontender, immobile, 4 cm x 5 cm, erythematous mass on the right lower ear in the intertragic notch, sparing the lobe (Figure ). No cervical lymphadenopathy was appreciated upon palpation.\nCT of neck and chest revealed prominent cervical lymph nodes and a diffusely spread circumferential soft tissue mediastinal mass involving the lungs, pleura, and pericardium. The mediastinal density surrounded the esophagus, trachea, right pulmonary artery and vein, with extension into the bilateral atria (Figure ). Further imaging with transthoracic echocardiography (TTE) revealed left ventricular ejection fraction of 55%-60% and confirmed infiltration of the mediastinal mass into the right and left atria. Cardiac MRI ruled out presence of intra-atrial thrombus. Abdominal MRI demonstrated extension of bulky disease below the diaphragm encasing the aorta, superior mesenteric artery, renal arteries, and vein.\nThe right ear mass was biopsied, revealing large cells which were positive for BCL-2, BCL-6, MUM1, CD20, CD19, CD22, CD10 on immunohistochemistry. Fluorescence in-situ hybridization returned negative for amplification or rearrangement of c-MYC, BCL-2, and BCL-6. Ki-67 proliferative index was 60%. These findings were consistent with DLBCL, germinal center B-type. The patient was diagnosed with Ann Arbor stage III primary mediastinal DLBCL with extranodal involvement of the right ear.\nThe patient was started on pharmacologic anticoagulation with low molecular weight heparin for venous thromboembolism prophylaxis, and admitted for initiation of inpatient chemotherapy with etoposide, prednisone, vincristine, cyclophosphamide, rituximab, and intrathecal methotrexate (DA-R-EPOCH). Doxorubicin was omitted for the first cycle of chemotherapy given the intra-atrial and myocardial involvement of tumor burden. However, his atrial tumor invasion receded with one cycle of chemotherapy and doxorubicin was added back for further cycles.\nHe completed treatment with DA-R-EPOCH for two cycles, followed by four cycles of rituximab, cyclophosphamide, doxorubicin, vincristine, prednisone (R-CHOP) with partial response. He is still being followed under active surveillance and has stable control of his disease now 47 months after initial diagnosis. |
A 65-year-old female had a history of several cancers, including left breast cancer at 36 years of age, cecum cancer in her forties and right breast cancer at 64 years of age. Her mother, younger sister and daughter also each had a history of breast cancer. At 60 years of age, the patient underwent sigmoidectomy and right colectomy with D3 lymph node dissection for both sigmoid colon cancer (fig. ) and transverse colon cancer. During that operation, lavage of the remnant colon was performed before anastomosis, and automatic anastomotic devices were used. The pathological diagnoses revealed both sigmoid colon cancer and transverse colon cancer of T3N0M0, stage IIA. Both the oral and anal margins of the resected colon had a sufficient length: the transverse margin measured 135 mm (oral wedge) and 50 mm (anal wedge), while the sigmoid margin measured 40 mm (oral wedge) and 50 mm (anal wedge) (fig. ). At 3-year follow-up, colonoscopy and computed tomography revealed no signs of recurrence (fig. ). At 5-year follow-up, colonoscopy demonstrated surrounding flaring and swelling in the anastomotic area of the sigmoid colon (fig. ). A biopsy revealed an adenocarcinoma. The levels of the tumor markers CEA and CA19-9 were both within the normal limits at that time. There were no signs of recurrence in other locations, such as the liver and lungs, or other areas of the remnant colon. Therefore, under a diagnosis of anastomotic recurrence over 5 years after surgery, we performed lower anterior resection. The tumor measured 45 × 35 mm and was located at the previous anastomotic site (fig. ). Pathology revealed histological features that resembled the pattern of the previous tumor, and there were masses of cancerous cells in the subserosal and muscular layers near the fissured muscular layer, which comprised the anastomotic area (fig. ). In addition, in the mucous membranes surrounding the anastomotic area, there was hyperplasia of cancerous cells that pushed up layers from deeper mucous membranes. Furthermore, there were no cancerous cells in the mucous membranes, which indicated that the cells were derived from the primary lesion (fig. ). Based on these observations, the final diagnosis was anastomotic recurrence of sigmoid colon cancer after surgery. No lymph node metastasis was observed among the 18 dissected lymph nodes. There have been no signs of recurrence for the 2 years since the last surgery. |
A 25-year-old man presented to the ER with abdominal pain, nausea, and vomiting. He described the abdominal pain as cramping, constant, located on the left lower side of the abdomen with an intensity of 8 to 9 out of 10. He indicated that the pain had been present for 1 week and had been getting progressively worse, with no radiation to other areas of the abdomen. Associated symptoms reported were nausea and vomiting for 1 day, diarrhea that had been on and off, and fatigue for about a week. He denied any fever, chest pain, shortness of breath, constipation, dizziness, muscle weakness, or numbness.\nHis past medical history was significant for bipolar disorder and dyslipidemia. No surgical history was reported. The patient denied any allergies. He was taking gabapentin and mirtazapine. His family history is unknown, since he was adopted at the age of 5. He reported occasional alcohol and tobacco use and had used cocaine and marijuana in the past, with the last use reported to be 1 year prior to admission, since he was currently enrolled in a methadone program. He was unemployed at the time of admission. Interestingly, he reported having been admitted to a hospital 2 years prior where he was told he had some blood clots in his abdomen and that he needed to take blood thinners, an advice that he did not follow.\nOn presentation, the patient was in mild distress because of abdominal pain; the vital signs were stable, except for slight tachycardia with a heart rate of 106. No abnormal coloration was noted in the eyes or on the skin. No murmurs or additional heart sounds were noted. The lungs were clear to auscultation. The abdomen was soft and nondistended but was diffusely tender to palpation, especially in the left lower quadrant. No edema was noted in the extremities and the pulses were present. Neurological exam was intact.\nThe laboratory evaluation was basically unremarkable and revealed a WBC count of 8.89 (103/μL), Hb 15.2 g/dL, Hct 43.7%, Plt 248 (103/μL), INR within normal limits, Na 141 mEq/L, K 4.1 mEq/L, BUN 8 mg/dL, and Cr 1.2 mg/dL, Alk. Phos. 192 U/L. However, the radiological exam was significant, with an abdominal computed tomography (CT) revealing the presence of multiple nonocclusive thrombi involving the right portal vein, the splenic vein, and the left renal vein, as well as complete occlusion of the left portal vein and the superior mesenteric vein (Figures and ). Colitis involving the descending and sigmoid colon was also noted and was believed to be ischemic in nature. A Doppler ultrasound was obtained and confirmed the findings suggestive of chronic portal vein thrombosis.\nThe patient was admitted with a diagnosis of portal vein thrombosis and was started on anticoagulation with enoxaparin bridged with warfarin. A complete hypercoagulability workup was obtained, all of it coming back negative. Liver disease was also excluded, with all the liver disease workup being unremarkable as well. Patient's pain was relieved with morphine. His hospital course was uncomplicated, with significant improvement of his pain and the ability to tolerate a regular diet without any gastrointestinal symptoms, such as nausea, diarrhea, or constipation. He was extensively counseled on the need to be compliant with his anticoagulation regimen to prevent the recurrence of acute thrombosis and was uneventfully discharged with appointments to follow at the medicine and warfarin clinics. Interestingly, the patient was readmitted 2 weeks later after an INR check revealed it to be supratherapeutic at 12.8. No signs of bleeding were noted, he received a dose of Vitamin K, and his warfarin was held. After a couple of days of observation, he was discharged with instructions to follow at the warfarin clinic for readjustment of his anticoagulation regimen. |
A man aged 72 years underwent elective surgery, a surgical revascularization of the myocardium, for a previously verified triple vessel coronary artery disease (CAD) with LAD 100%, CX 90%, RCA 90%. In the previous history of the disease he had diabetes mellitus type 2, arterial hypertension, myocardial infarction, hyperlipidemia and a positive family history of cardiovascular diseases.\nThe operation and early postoperative recovery went without any complications, and the patient was discharged on home care by protocol. On the first postoperative visit, 15 days after surgery, echocardiography showed a neat finding and upon recommendation, the patient continued with the previous treatment recommended for discharge. A month after the first visit or two months after the surgery, the patient was sent from a local hospital to our Heart Center with verified pericardial effusion and with the susceptible signs of right ventricular compression. At this point the patient had symptoms like fatigue and mild chest pain, more on his left side. On physical examination there were slightly pointed veins on the neck. He was afebrile and with neat diuresis. Heart tones were quieter, without murmurs and the action of the heart was rhythmic. Auscultatory findings on the lungs were without pathological murmurs. Measured blood pressure was 90/60 mmHg and the pulse was 96/min. Laboratory blood tests were in reference values range (white blood count - WBC, CRP). In addition to other discharge therapy, he had all that time acetylsalicylic acid 100 mg and clopidogrel 75 mg, without anticoagulation therapy.\nThe patient was kept for the observation. On the admission, a X-ray P/A of the chest was performed, that showed a regular size of the heart (). Transthoracic echocardiography (TTE) showed free fluid by the lateral and posterior wall of the right ventricle and possible compression of it, but there was no visible fluid in some views e.g. long axis view (). Due to a difficult visualization, it was recommended, at that time, to observe the patient and do frequent echo monitoring of pericardial effusion while making a decision about treatment. Echocardiographic findings showed also a preserved ejection fraction of the left ventricle and restrictive left ventricular filling.\nAfter 24 hours, a control echocardiographic finding was performed and showed a large amount of the free fluid (around 2,7cm) by the right ventricle and apex, which significantly compressed the right ventricle cavity in the diastole and narrowed it, so that the opposite walls touched themselves (). The heart team decided to evacuate the free fluid by fenestration in the general anesthesia. During the operation transesophageal echocardiography (TEE) was performed, but surprisingly it was impossible to verify the large amount of the fluid seen with other diagnostic procedures, in all cross sections. Because of the possibility of the right ventricle rupture, after several attempts to find the fluid, the heart team gave up from further manipulations and closed the patient. The patients problem was not solved so the heart team decided to do the computerized tomography (CT) of the thorax. On the recorded image, the left segment of the heart was enlarged, with pericardial effusion on the anterior side of the heart and especially in caudal aspect. By this diagnostic procedure the pericardial effusion with tamponade of left ventricle was confirmed (estimated amount of fluid was 380-400 mL).\nOn the control TTE echocardiography, persists the large amount of free fluid by the right ventricle and apex (around 2,7 cm) with the movements and compression also by the posterior wall of the left ventricle (around 2,7 cm). Due to the impossibility to evacuate the fluid by fenestration, and because the patient was still hemodynamically stable, he was observed in our Center for several days, for the possible evacuation of pericardial fluid by opening the chest. After a few days of monitoring with the patient still stable, he was transfered to the local hospital for further monitoring with the new drug included in his therapy, a nonsteroidal anti-inflammatory drugs (NSAIDs) - Ibuprofen 600 mg to use it three times a day, during the follow up.\nAfter two postoperative visits, in a monitoring period of two months, it persisted the same echocardiography finding, without any progression compared to previous findings and the patient was hemodynamically stable. Even in two months after the fenestration, with recommended therapy, there was no achievement. The patient was still being monitored, so it was decided to add new drug to the previous therapy. Due to a lack of Colchicin, that is mentioned in Guidelines as the next step, in the therapy was included Prednisone, a corticosteroidal drug, also mentioned in the Guidelines as one option. It was administered according to scheme with gradual dose reduction, as recommended ().\nOne month after the introduction of corticosteroidal therapy, echocardiography (TTE) showed a significant reduction of the pericardial effusion, and there was no compression on the right ventricle, like earlier verified. Considering the reduction of pericardial effusion, it was recommended to gradually reduce the corticosteroids and eventually exclude it. The patient was monitored with frequent echocardiography findings. During all that time no side effects were observed.\nFour months after introduction of combined therapy with NSAIDs and corticosteroids, echocardiography verified a complete reduction of pericardial effusion and the right ventricle had a neat triangular form. The treatment was considered successful. The patient was asymptomatic, so the therapy for pericardial effusion was completely excluded, after which the patient was monitored in every six months. After six months of good general condition, completely asymptomatic patient was without any sings of pericardial effusion, what was confirmed on echocardiography findings. |
A 75-year-old male with a history of ankylosing spondylitis was admitted to the hospital following a motor vehicle collision. Initially, he presented with a left lower extremity weakness and absent deep tendon reflexes. His past medical history was significant for arterial hypertension, hyperlipidemia, prostate cancer, and coronary arterial disease previously treated with coronary stent placement. A portable supine chest X-ray demonstrated low lung volumes with atelectasis of the left lung base, remote left-sided rib fractures, and an acute posterior left fifth rib fracture. No other abnormalities were reported (). A computed tomography (CT) scan of the thorax showed complete transection of the thoracic spine at level of T7-8 with narrowing of the spinal canal, severe ankylosing spondylitis, a small hemothorax on the right, a small right apical pneumothorax, and an acute nondisplaced left fifth rib fracture. There was also evidence of remote trauma to the left second to fourth ribs. There were no major abnormalities in electrolytes and acid–base balance. General anesthesia was induced uneventfully, and surgery was attempted, but the procedure had to be aborted 2 hours into the procedure for refractory arterial hypotension. The patient was transferred to the intensive care unit intubated and sedated for further evaluation.\nNo cardiovascular factors could be identified to explain the intraoperative hypotensive episode, and a planned thoracic spine stabilization was arranged 48 hours after the first attempt. Of note, the patient had received positive pressure ventilation with low peak and plateau pressure levels while in the intensive care unit (ICU) and was placed on norepinephrine infusion to augment the spinal perfusion pressure.\nAfter induction of anesthesia, the patient was positioned prone and the thoracic spine stabilization ensued as planned. After several hours and during the time of instrumentation, ventilation difficulties arose. A significant (>5%) decrease in end tidal CO2 level and an increase in peak airway pressure (>30 mm H2O) despite tracheobroncheal suctioning were recorded. Decreases in oxygen saturation were countered by increasing inspired oxygen concentration, which only resulted in 94% saturation indicating an increased intrapulmonary shunt via hypoventilated zones. Manual ventilation became increasingly challenging and the surgeon was asked to halt the procedure. Sterile drapes were applied to cover the open surgical incision, and the patient was returned to the supine position. An assessment for bilateral breath sounds was performed but proved inconclusive. A fiberoptic bronchoscopy demonstrated a small mucous plug but its removal did not improve the ventilation and gas exchange significantly. An arterial blood gas analysis at the time showed pH 7.31, PCO2 48, and PO2 99 mm Hg. An emergent supine chest X-ray revealed a left-sided pneumothorax (). A chest thoracostomy tube placed into the left pleural space resulted in immediate improvement of lung compliance, hemodynamics, and restoration of lung markings on the early postoperative X-ray film (). The patient was returned to the prone position with the thoracostomy tube in situ, and surgery was completed uneventfully. |
A female, 39-year-old patient had a prosthesis in her chin, which was insufficient to satisfy her desire. In the medical evaluation, filling with PMMA was indicated to fill the region. After the consent form was signed by the patient, the procedure was performed. Local anesthesia with lidocaine 2% was administered in the mental region, and a 22 G microcannula was inserted through the entry point to inject PMMA 10%. The correction of a depression caused by a prosthesis on the left side of the chin started, however, when 0.3 mL of PMMA 10% was injected, a hematoma and cyanosis were observed on the chin. The patient remained under observation for approximately five minutes by the responsible doctor. Hyperemia extending from the side of the chin, in the mandibular region, to the nasal ala on the left side was observed, which is very characteristic of the occlusion of the facial artery. Thereby, the doctor started the occlusion protocol, massaging the site and applying hot compresses.\nAt no time the patient reported feeling pain. She remained under observation for another hour at the clinic. The doctor, in suspecting arterial occlusion, followed the treatment protocol and prescribed antibiotics, corticosteroids 20 mg, and acetylsalicylic acid (ASA) 300 mg per day before discharging the patient. Twelve hours after the procedure, the doctor requested the patient to send a photo of the affected area. The patient had more intense hyperemia in the region of the facial artery and a significant hematoma in the chin, which led the doctor to the diagnosis of vascular occlusion. Therefore, the doctor referred and accompanied the patient to a hyperbaric oxygen therapy center. The treatment, overseen by the doctor responsible for the oxygen therapy, was carried out to reverse the region's arterial suffering. The patient was subjected to 2.4 atm of pressure in a multi-place chamber with 100% oxygen inhalation for 90 min. On the third day of treatment, despite the external part of the mucosa appearing cyanotic, there was a significant reduction in both the hematoma and the hyperemia in the region. On the fifth day of the therapy, that is, the sixth following the procedure, the patient presented recovery of 100% of the blood flow rate, as monitored by the doctors responsible for the procedure and the oxygen therapy treatment.\nAfter the fifth session of oxygen therapy, the patient was discharged. Seven days after the procedure, she contacted the doctor once more to report wellness during a car trip and 100% of the region healed, without any visible scarring (). |
A 49-year-old male presented with a history of bomb blast injury to his left elbow 25 years back, when he had sustained an open and comminuted fracture of left distal humerus with extension into the elbow joint. The injury was treated with wound debridement and cast application for 6 weeks. Distal humerus progressed to atrophic non-union, with severe deformity and stiffness of the elbow. He also had partial involvement of radial and ulnar nerves with stiffness and deformities of the fingers of the left hand. He presented to us for correction of the elbow deformity and to gain reasonable elbow and hand function.\nOn local examination, there were multiple scars present medially, laterally and posteriorly around his left elbow suggestive of healed wounds by secondary intention after compound injury. There was fixed flexion deformity of the elbow of 900 with further flexion up to 120 degree was possible (, ). There was partial sensory loss in the little and ring fingers and the muscle power (as per MRC grading) of the finger flexors was 3/5; wrist and those of elbow flexors was 2/5. The motor power of left fingers, wrist and elbow extensors were 1/5.\nPlain radiographs revealed atrophic non-union of the supracondylar fracture along with the deformity at the distal humerus due to malunited distal humeral fracture (, ). CT scan confirmed these radiographic findings and demonstrated a significant gap at the fracture site with grossly rotated distal humeral condylar fragments and marked disuse osteopenia.\nIn view of grossly distorted anatomy of the distal humerus, poor bone stock, bone gap at the non-united fracture, severe elbow deformity and stiffness we preferred to go for a mega prosthetic replacement of the left elbow. Under general anaesthesia, elbow was approached posteriorly by ’Wadsworth approach’ and the fracture site was exposed. Severe fibrosis was encountered between the fractured ends of the bone, which was excised. The distal humeral condylar fragments were found to be grossly mal-positioned, osteoporosed, destructed and were not amenable to osteosynthesis or conventional total elbow replacement. Hence, the distal humeral bone fragments were excised, leading to a large bone gap at the elbow. This gap was reconstructed by using elbow mega prosthesis. Preparation for mega prosthetic replacement was done by reaming the humeral and ulnar shafts. Cemented titanium prosthesis (XLO Tm) was used for reconstruction, with ulnar stem of 132 mm and humeral stem of 175 mm length. The implant had eyes in the ulnar component for the attachment of the triceps tendon. Common flexor tendons were attached on the medial side and the common extensor tendons were attached on lateral side of triceps tendon and finally the combined tendinous complex was attached at the eye of the prosthesis with the help of non-absorbable polyester suture (Ethibond™ No. 5). Intra operatively, we could achieve good correction of the elbow deformity (with ROM of 10-1500) with stable elbow joint.\nThe patient was given i.v. third generation cephalosporin and aminoglycoside for a period of three days post operatively. The antibiotics were shifted to oral at the time of discharge and were continued for a period of two weeks till suture removal. The limb was kept in a splint for 2 weeks followed by physical therapy to regain the movements and function of the elbow and hand (, ). The post-operative recovery was satisfactory and uneventful. Post-operative X-ray showed good placement of the prosthesis with adequate cementation (, ).\nAt 12 months follow up, the the patient had significant improvement in the post-operative Mayo elbow score of 80 compared to pre-operative score of only 50. The patient could now do many of his activities of daily living with left hand, which were not possible before, apart from significant improvement in the cosmetic appearance. |
A 60-year-old African American female was following up for her chronically elevated alkaline phosphatase levels. She had a history of hypertension, hyperlipidemia, type 2 diabetes mellitus, allergic rhinitis, and chronic lower back pain. Patient has a family history of arthritis, cardiovascular disease, and diabetes mellitus; she denies ever using alcohol or tobacco.\nWith the onset of elevated alkaline phosphatase level and vague abdominal pain in 2013, an abdominal ultrasound performed in December showed hepatic steatosis. Viral serologies for hepatitis during 2013 were negative, as a gastrointestinal consult was required to determine the need for a liver biopsy. A liver biopsy was subsequently performed, which showed focal mixed micro and macrovesicular steatosis. Portal tracts showed minimal focal chronic inflammation, no significant fibrosis, and no iron deposition.\nThe vague abdominal pain that she was experiencing waxed and waned for two years. Additionally, the patient experienced some vague chest pain and dyspnea that prompted an echocardiogram in February of 2015, which demonstrated a left ventricle ejection fraction of 44%. Consequently, a left heart catheterization in the following month showed no significant coronary disease with a dilated left ventricle with an ejection fraction of 50%. A 2-year follow-up in July of 2015 showed suspicious cirrhosis by Computed Tomography (CT) scan (), possibly due to granulomatous changes and chronic inflammation. A CT scan was determined to be necessary for our patient because of rising alkaline phosphatase without other explainable etiologies, in addition to the patient's appetite suppression and vague abdominal pains. Patient's weight during this time was 207 lbs (93.89 kg) and was advised to diet and exercise. After 4 months of continuous symptoms, especially with abdominal pain, a laparoscopic cholecystectomy was performed with a liver biopsy that showed subsequent granulomatous changes in September of 2015. The liver biopsy showed coalescing periportal nonnecrotizing epithelioid granulomas with associated multinucleated giant cells and chronic inflammation. The chronic and patchy inflammation is representative of the granulomatous hepatitis, despite not having elevated transaminases. The granulomatous changes suggested possible sarcoidosis (). The liver biopsy was not histologically suggestive of nonalcoholic steatohepatitis, with no steatosis noted. Chest X-ray at that time showed no significant findings.\nInflammatory bowel disease (IBD) was not explored in the patient because she never had clinical signs on past or present examinations, denying any symptoms of IBD including alternating bowel habits, predominant constipation, or diarrhea. Laboratory studies 2 years and 6 months since the onset, at the end of 2015 showed negative antinuclear antibodies (ANA), negative rheumatoid arthritis factor, negative cyclic citrullinated peptide (CCP) antibodies (IgG/IgA), elevated C-reactive protein of 8.9 mg/L, normal complement C3/C4, elevated B-type natriuretic peptide 688.6 pg/mL, and negative mitochondrial (M2) antibody. Subsequent office visits and additional laboratory results are shown in .\nAdditionally, patient experienced peak weight loss with a weight of 154 lbs. (69.85 kg) in 2016. During this time period, an echocardiogram showed a decreased ejection fraction of 26%. This result and a history of having ventricular tachycardia resulted in the patient having an automated implantable cardioverter-defibrillator (ICD) placed.\nUrinalysis in June 2017 showed RBC 0-5/hpf, WBC 0-5/hpf, bacteria 2+, and moderate calcium oxalate crystals. Additionally, patient's weight increased in 2017 to 190 lbs. (86.18 kg). |
A 38-year-old male patient presented in 2008 with a centrally located tumour of up to 3 cm in diameter of his right parotid gland, which was treated by resection. Macroscopically an ill-defined grey tumour mass was seen, and histologic examination showed microcystic to reticular and focally tubular growth of moderately pleomorphic epitheloid cells with focal intra- and extracellular PAS-positive mucin production (Fig. a+b). Muscle infiltration and perineural growth as well as central sclerosis of tumour tissue were recognized. Epidermoid differentiation or presence of goblet cells were not seen. Immunohistochemical examination showed strong expression of cytokeratin 7 and focal weak to moderate expression of S100 protein (Fig. c). No expression of alpha-amylase, carcinoembryonic antigen, or smooth muscle actin was detected. Thus after exclusion of main differential diagnoses of acinic cell carcinoma and mucoepidermoid carcinoma, diagnosis of moderately differentiated adenocarcinoma not otherwise specified of parotid gland was made, and neck dissection with removal of 14 right cervical lymph nodes was added without evidence of metastases. In follow-up the patient presented with multiple lung metastases: in 2012 three lung metastases of up to 2.5 cm in diameter in right lung segment 2 and two lung metastases of up to 1.0 cm in diameter in right lung segments 1 und 4 were removed, followed in 2014 by resection of three lung metastases of up to 1.5 cm in diameter in right upper and lower lung lobe. Histologic analysis showed comparable morphology to initial diagnostic sample, and lack of TTF1 expression further confirmed diagnosis of lung metatastases of known parotid gland adenocarcinoma. Finally, in 2017, after palliative chemotherapy four lung metastases of up to 0.6 cm in diameter in left lung segments 1, 2, 7 and 8 were treated by local excision. Because of still progressive pulmonary tumour dissemination and the occurrence of skeletal metastases palliative radiochemotherapy was started and extensive immunohistochemical and molecular examination of archived tumour tissue initiated. Additional IHC stainings showed moderate expression of mammaglobin (Fig. d; this marker has only been established in our laboratory since 2015), no expression of DOG1, and moderate to strong nuclear and weak cytoplasmic staining (Fig. ) using an anti-pan Trk antibody (Clone EPR17341, dilution 1:250, Abcam, Cambridge, United Kingdom).\nFluorescence in situ hybridization (FISH) was performed on 3 μm FFPE sections of tumour tissue using break apart probes for NTRK1, NTRK2, and NTRK3 (Z-2167, Z-2205, Z-2206; ZytoVision GmbH, Bremerhaven, Germany), each composed of a green-labelled probe for the 5′ part of NTRK, and an orange-labelled probe marking the 3′ tyrosine kinase domain. Analysis revealed wild-type fusion signals for NTRK1 and NTRK2 but an aberrant pattern for NTRK3. In addition to fusion signals, up to four single orange signals were observed in the vast majority of nuclei (Fig. ). Remarkably, these single orange signals were a lot fainter than orange signals being part of fusion signals.\nNext, RNA was isolated (FFPE RNA Kit, Amoy Diagnostics, Xiamen, China) and quantitative reverse transcription PCR performed with a panel comprising 109 different fusion variants for NTRK1/2/3 (NTRK Gene Fusions Detection Kit, Amoy Diagnostics). This assay uses a pooling strategy, and data analysis showed positive signals for two pools, each representing several different ETV6-NTRK3 fusion transcripts. Finally, RNA-based next generation sequencing (RNA-Seq) was executed in order to determine exact variants.\nRNA-Seq was performed with two different panels independently. The first analysis was conducted using the Archer FusionPlex Comprehensive Thyroid and Lung (CTL) panel (ArcherDX, Boulder, Colorado, USA). Sequencing was done on a MiSeq sequencer (Illumina, San Diego, California, USA), and sequencing data was processed using Archer Analysis 6.2 Site. Archer FusionPlex analysis revealed the presence of three different ETV6-NTRK3 variants (Table ), with ETV6:exon5-NTRK3:exon15 as the dominant variant.\nSecond, a hybridization probe-based library preparation kit targeting 36 genes including NTRK1/2/3 was used (AmoyDx HANDLE Classic NGS Panel, Amoy Diagnostics). Sequencing was performed on a MiniSeq sequencer (Illumina, San Diego, California, USA), and data analysis resulted in detection of the same three ETV6-NTRK3 fusion variants as detected by the Archer panel (Table ). In addition, the relative abundance of these variants was comparable, again with ETV6:exon5-NTRK3:exon15 presenting as the dominant variant.\nWith ETV6-NTRK3 fusion confirmed, the patient’s diagnosis was revised to metastatic secretory carcinoma of the salivary gland, and treatment with pan-Trk inhibitor Larotrectinib (100 mg twice daily) initiated. After 8 months of treatment, CT and MRI scans showed partial remission with pulmonary and skeletal metastases of reduced size. |
We report a rare case of IVC aneurysm in a 22-year old Afghan-Iranian male patient. The patient had a history of blunt abdominal trauma one week prior to his referral to the emergency department of our center. On his initial abdominal trauma, a complete physical examination and focused assessment with sonography for trauma (FAST) was done. The investigations were normal and the patient was discharged from the emergency department. The patient has had vague abdominal pain after his discharge.\nOn the referral of the patient to our center, we planned an abdominopelvic computed tomography (CT) scan with oral and IV contrast. The scan illustrated an IVC saccular aneurysm originating from right side of the IVC below the renal veins (). We assumed two possible etiologies. The aneurysm could incidentally and in another hand it could be related to the patient’s recent history of abdominal trauma. Magnetic resonance venography was also conducted and it also confirmed the diagnosis of a saccular type III IVC aneurysm ().\nWe planned open resection and repair of the aneurysm. A midline laparotomy was done. After thorough exploration of the abdominal and pelvic cavities, a right medial visceral rotation was conducted by mobilization of the right colon and a Kocher maneuver (The Cattel-Braasch Maneuver). The right kidney was left in situ. The entire sub-hepatic IVC was exposed. A saccular aneurysm with dimensions of 4*5 cm was found on exploration (). The aneurysm was located below the renal veins and the neck of the aneurysm was at the right side. The aneurysm was confined to the infrarenal IVC and there was not any associated venous anomaly. Thus, it was a type III saccular IVC aneurysm. A partial Satinsky clamp was applied posterior and left to the site of aneurysm origin on IVC and a longitudinal incision was done anterior to the neck of the aneurysm. Then, the entire aneurysm was resected. The neck of the aneurysm was closed with lateral venorrhaphy by running 6.0 polypropylene sutures ().\nThe patient had well recovery after the operation. Postoperative anticoagulation was administered by unfractionated heparin and warfarin. Warfarin anticoagulation was continued for three months to prevent venous thrombosis and probable pulmonary embolism. The patient’s follow-up did not reveal any morbidity. Postoperative CT scan was also conducted on seventh postoperative day. Postoperative appearance of IVC was normal (). |
A 64-year-old female presented to the emergency department secondary to shortness of breath, cough, and associated fever. She had a past history of chronic obstructive pulmonary disease, left upper lobe cavitary lung lesion, and microcytic anemia. The patient was on daily oral steroids for the last several years due to poorly controlled COPD and had recently been released from the hospital two weeks before for a left lower lobe pneumonia. At the time of her prior admission, she was started on vancomycin and aztreonam for her pneumonia and was ultimately discharged on levofloxacin for ten days.\nDuring her emergency department course, her chest radiograph revealed a worsening left lower lobe infiltrate which was later confirmed on computed tomography of the chest. The patient had worsening hypoxia during her course and was eventually placed on BIPAP therapy, and she was started on intravenous vancomycin, levofloxacin, and fluconazole for a presumed hospital-acquired or fungal pneumonia given her recent hospital admission and cavitary lung lesion. Prior to admission, she had no physical exam findings to suggest a fungal infection. She was admitted to the hospitalist service for further evaluation and management.\nWhile hospitalized, the patient continued antibiotic and antifungal therapy, and on day two, aztreonam was added due to a worsening clinical picture. The following day, the patient underwent consultations from infectious disease, pulmonology, and cardiothoracic surgery due to her worsening clinical status and pneumonia with associated cavitary lung lesion. Following consultations, the patient underwent a fiberoptic flexible bronchoscopy with bronchoalveolar lavage which showed a large mucous plug obstructing the left main bronchus but no associated lesions. Cultures from the bronchoalveolar lavage eventually grew Nonomuraea solani, Candida glabrata, and Candida dubliniensis.\nFollowing a protracted hospital course of nine days, the patient was discharged home with cefpodoxime 400 mg twice a day for ten more days and was instructed to follow up with infectious disease within the next two weeks. However, the patient eventually presented to the emergency department one month later with a left-sided empyema status after wedge resection of the cavitary lesion that grew Corynebacterium amycolatum and Staphylococcus hominis spp. on cultures. |
A 59-year-old woman was referred to the Center for Post Graduation Studies on Pain and Temporomandibular Disorders (TMD) of the Brazilian Dental Association – State of Rio Grande do Sul (ABO-RS) with acute pain around the lower lip, jaw, and right temporomandibular joint (TMJ), which impaired mouth opening. The main complaint was the difficulty to open the mouth due to shooting pain attacks on the right side of the face. Pain happened along the trigeminal nerve path, yet not reaching beyond the median line. Pain attacks were typically sudden, acute, short and episodic. The patient's previous history, assessed by the HAD questionnaire (Hospital Anxiety and Depression Scale), revealed the clinical signs characteristic of depression and anxiety. Pain prior to a car accident was also reported. The patient also described persistent and localized episodes of bilateral pain in the left and right masseter as well as in the temporalis muscles which increased with function, and the presence of painful hypertrophic bands. When palpating the right masseter, pain was felt in the insertion region and in the muscle itself and was graded as 3 by the patient on a four-point scale (0 = no pain, 1 = report of discomfort, 2 = report of pain, 3 = report of pain with withdrawal reflex). On the left side, pain happened in the masseter itself, and was graded as 1. As for right and left temporal muscles, the patient reported grade 1 pain in all muscle sheaths. Pterygoid muscles were also reported to be affected by the pain on both sides, graded as 3.\nA visual scale was used to measure pain. The patient characterized facial pain episodes as grade 10, while muscle pain was graded as 7. This pain was graded 8 on average for the past 6 months. The patient's everyday chores as well as professional work was impaired by the pain, which also affected her social and family life. Furthermore, the patient exhibited clicking and popping sounds in both TMJs and reported displaced bite, a history of mandible locking, both at night and during the day, teeth grinding, and a certain degree of discomfort in the morning.\nThe Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) was used to assess the patient's physical characteristics. On the first occasion, this test was not completed, because of the very small mouth opening (26 mm). The patient was instructed to make use of moist heat on the affected muscle area for 20 min, 3 times a day, for fourteen days. A non-steroid antiinflammatory drug selective cyclooxygenase 2 was prescribed, three times a day, for the same period.\nOn a second assessment, the RDC/TMD questionnaire was again applied to the patient. Mouth opening was 36 mm, painless and with no need for intervention. With assistance, the patient was able to further open the mouth 44 mm with intense pain. An overbite of 3 mm was observed, along with a lateral centric slide of 2 mm to the left of the median line. The opening pattern was S-shaped, deviated to the right side, presenting a 4-mm maximum lateral excursive movement to the right and 12 mm to the left. Concerning articular sounds, a click was observed on the right side, at 23 mm opening, and on the left, at 25 mm. On closing, clicking was heard at 21 mm on the right and 25 mm on the left. Reciprocal sounds ceased in protrusive movement on both sides, but they were present in lateral movements.\nIn this particular case, there were signs and symptoms indicative of neuralgic pain of the fifth branch (trigeminal division), probably related to brain tumor. A physician, under the recommendation of the dentists supervising the case, requested a MRI evaluation, which was performed forty days after the clinical evaluation. MRI revealed a slight disk displacement, with a decrease on the right side and an extensive tumoral lesion in the right acoustic channel stretching to cerebellopontine angle (), suggesting a Vestibular Schwannoma.\nInitially, the treatment proposed was to reduce localized muscle pain using anti-inflammatory drugs, muscle relaxation drugs, and moist heat in the affected muscular region, for four days. Concomitantly, a Michigan-type bite plane was manufactured to stabilize occlusion and to rule out dental influence as a trigger to central pain, to decrease abnormal muscle activity, and to diminish muscle pain sensitivity. In the follow-up period, the splint underwent adjustments, and from that moment on, the patient started using the splint both at night and during the day, removing it only to eat and clean the teeth. With sequential adjustments and frequent controls, the patient reached a favorable response to the use of the splint, improving the pain prospects. The splint was indicated due to the presence of muscle and skeletal pain indicative of TMD in conjunction with stabilizing agents. There was an improvement not only in the muscle and skeletal pain, including maximum mouth opening, but also in the neuralgic pain. The patient was referred to a psychiatrist for a more comprehensive evaluation of her psychological condition, which revealed symptoms that were suggestive of anxiety and depression. The patient was advised to also see a brain surgeon to evaluate the tumoral lesion ( and ) and to investigate dizziness, vertigo and neuralgia. After medical assessment, the patient began to take sertraline, carbamazepine and clonazepam, with subsequent decrease in pain crises. The tumor was surgically removed. In this particular case, the facial nerve was damaged causing hearing loss and Bell's palsy on the affected side. However, the pain subsided and no longer affected the patient. |
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