text
stringlengths 746
31k
|
|---|
We report a 6 month-old female infant, first daughter of a healthy, young couple. The pregnancy was followed up for microcephaly detected by prenatal ultrasound. The patient was born by caesarean section for pathological cardiotocography following premature rupture of membranes at 35 weeks; the birth weight was 2.06 kg (25th centile), and the head circumference was 30 cm (9th centile).\nAt birth, in addition to microcephaly, she was noted to have petechial rash, hepatosplenomegaly and respiratory distress requiring CPAP for the first 48 h of life. The platelet count was 44 × 103/μL and ALT was 6 IU/L. CMV was detected by PCR in blood and urine on day 3 of life with a CMV DNA level in blood of 3.6 × 105 copies/mL. Ophthalmology assessment on day 4 of life showed normal retinae bilaterally, and audiology screening on day 5 showed left sensorineural hearing loss (60 dB). The MRI showed periventricular and multiple thalamostriate areas of calcification.\nIn view of the symptomatic manifestations of cCMV infection, the patient was started on valganciclovir (16 mg/kg twice daily, commercially available solution) on day 5 of life.\nOf note she was on home oxygen during the first months and developed apnoeic episodes from day 27 of life and on one occasion required intubation and mechanical ventilation for less than 24 h following a respiratory arrest. There was absence of gag reflex, as a probable manifestation of congenital CMV, and the child was fed via nasogastric tube.\nHer viral loads were measured periodically in blood as well as her trough and peak ganciclovir levels (Fig. ). Initially there was a reduction in CMV viral load. Her valganciclovir dose was increased according to her weight gain and drug levels and there were no concerns regarding compliance.\nClinically, she was making steady progress, specifically in her weight gain and neurodevelopment, although there were some inter-current episodes of respiratory deterioration coincidental with flaring up of the petechial rash with normal platelet counts.\nAfter 4 months of treatment, an increase in viral load was noted reaching a peak of 3.6 × 106 copies/mL, as seen in the Fig. . Her valganciclovir had been maximised up to 140% the standard treatment dose because of low drug levels and no signs of toxicity.\nBlood was therefore sampled for viral nucleotide sequencing analysis (Manchester Medical Microbiology Partnership), which confirmed the presence of the A594V mutation in the CMV UL97 gene conferring resistance to ganciclovir. No mutations were detected in the UL54 gene, inferring sensitivity to foscarnet and cidofovir. The retrospective analysis of a sample when the patient was 2 months of age identified no known CMV resistance mutations.\nHer full blood count, liver function tests and electrolytes remained within normal limits.\nValganciclovir was therefore stopped at 5 months of age. In view of her steady improvement, no benefit was felt in starting any of the other alternative drugs, such as foscarnet or cidofovir, which are associated with significant toxicity, have limited CNS penetration and require intravenous administration. There were no signs of primary immunodeficiency, including a normal lymphocyte subset panel, and her CMV level taken when stopping treatment had decreased to 3.5 × 103 copies/mL. In addition, her IgM and IgG, both negative at 4 months, were found to be positive, with high avidity IgG. One month after the end of treatment her viral load continued to decrease, with a level below 2 × 103 at 6 months of age, and was undetectable at 9 months of age. At 2.5 years of life CMV was not unexpectedly still detected in urine, but levels were too low for reliable mutation analysis. In spite of her marked developmental delay she was still making some steady progress. She can pull herself to stand, and sit unaided, but has no saving reflex when she falls, and she can grasp and transfer toys. Vision is normal, she does not require hearing aids, and she is vocalising, but uses no single words. She developed severe epilepsy at about 2 years of life.. |
A 67-year-old Caucasian man presented with a persistent coughing for approximately 1 month. His symptom was not accompanied with loss of appetite, weight loss, or changes in bowel habits. The patient was smoking for about 25 years (approximately 40 pack-years) despite a 27-year abstinence from smoking. On laboratory investigation, peripheral blood counts and biochemical markers were within normal limits, except for a high rate of LDH. Serum concentrations of carcinoembryonic antigen (CEA), carbohydrate antigen (CA19-9), and alpha fetoprotein were within normal range as well.\nChest computed tomography (CT) showed multiple diffuse smooth thickening of the interstitial pulmonary parenchyma as well as an enlargement of the right paratracheal lymph nodes with a maximum diameter of 2.5 cm (). Contrast-enhanced abdominal CT scans revealed wall thickening of the cecum, the distal portion of the terminal ileum and the lower portion of the anion colon accompanied with pericolic inflammation and enlargement of the paracolic lymph nodes of the region (). No hepatic metastases were recognized. Main paraortic lymph nodes were observed with a maximum diameter of 2 cm.\nA colonoscopy was performed revealing a large mass in the cecum expanding in the lower portion of the ascending colon (). Biopsies were taken showing adenocarcinoma. Furthermore, the cytological examination of the cells from the bronchoalveolar lavage (BAL) revealed glandular tumor cells. The patient, following oncological council, subjected to neoadjuvant chemoradiation, in accordance with the therapeutic protocol for metastatic adenocarcinoma of colon with non-excludable pulmonary metastasis. Six months later, a right hemicolectomy () with side-to-side ileocolic anastomosis was performed. Has also be mentioned that no peritoneal metastases were observed in the presented case, although the patient had pulmonary metastases.\nHistopathological examination of the resected specimen revealed a poor differentiated appendiceal mucinous adenocarcinoma () whereas a negative staining for CD56, chromogranin, and synaptophysin was noted. Venous and lymphatic (all the 35 resected lymph nodes) invasion was observed whereas surgical margins were free of tumor cells. The patient’s postoperative course was complicated by evisceration which was managed by surgical procedure and he was discharged 15 days after the initial operation. The patient received adjuvant chemotherapy and died 1 year after surgery. |
A 66-year-old Caucasian gentleman presented to his GP with a singular, raised, crusted, scaly lesion of 21 × 20mm size with marginal erythema on the dorsum of his left hand (). He reported that the lesion was present for several years but had noted recent growth.\nMedical history included AK, basal cell carcinoma (BCC), and seborrheic keratoses in various distributions over recent years, putting him at a higher risk of keratinocyte carcinoma []. The lesion was diagnosed in the primary care setting as an AK, though possibility of BCC and SCC was considered.\nThe previous BCC had been managed successfully with six weeks of topical imiquimod treatment. Procedural removal of the AK was offered to the patient, but he expressed interest in trying a different approach. The patient was contemporaneously enrolled in a clinical trial examining the use of Kanuka honey on rosacea [] and decided to try using the Kanuka honey topically on his AK.\nHonevo® medical grade Kanuka honey (90% Kanuka honey, 10% glycerin) was topically applied once daily using a small amount on the fingertip rubbed into the lesion and surrounding 5 mm of normal skin for 10–30 seconds. It was left on for 30–60 minutes and then washed off with water. This was done consecutively for five days, after which the patient took a treatment break of two days due to lesion tenderness. During the break, the lesion was gently picked at, thereby debriding it. This process was repeated for a total of three months; there were no other treatments used prior to or during this regimen and there were no adverse reactions. The lesion gradually reduced in size with an initial rapid reduction in its dry, crusted nature.\nAfter three months, residual appearance of the lesion was a 20 mm by 17 mm area of pink skin with no elements of hypertrophy, crusting, or loss of skin integrity (). At six months, there were no signs of recurrence. At nine months, the appearance of the skin had fully returned to normal. A telephone follow-up was conducted at two years after treatment, and the patient reported that his skin in the area was still completely normal and that there were no signs of recurrence. A photograph was taken at this time (). |
A 63-year-old female patient was experiencing a change in her voice after thyroidectomy due to thyroid papillary carcinoma, which was done approximately 3 months ago. Endoscopic evaluation of the larynx revealed a right vocal fold paralysis. Results from other physical examinations and past medication history were unremarkable. We studied the CT scan for another cause of vocal fold palsy. However, the patient's lungs were clear and no signs of a heart problem ().\nAfter careful examination of her vocal folds, a Radiesse injection was performed on the right vocal fold through cricothyroid membrane under local anesthesia. The procedure did not go as planned since the patient suddenly coughed and moved during the injection laryngoplasty, thereby causing an accidental injection around the vocal fold (). The inadvertently injected CaHA around vocal fold was seen CT scan of inferior larynx area ().\nThe total volume of injected Radiesse was 1.4 mL. After the procedure, the patient suffered from dyspnea. A chest embolism computed tomography (CT) scan revealed a high-density lesion at the pulmonary vasculature in the right upper lobe ().\nIt revealed the right lung and right vocal fold corresponding to the Radiesse injection done previously. The CaHA PE was suspected, and the patient was treated with warfarin for 12 months. During the follow up, the patient consistently had mild dyspnea.\nAfter 6 months on warfarin, the chest embolism CT revealed that the calcified embolus still existed. At 12 months, the patient's dyspnea symptoms had nearly disappeared and she was able to climb the stairs without stress. The follow-up chest embolism CT scan did not show the embolus lesion of the right lung any more (). We concluded that the CaHA had been re-absorbed and just a follow up of the patient was required. At 2 years, the patient did not have any lingering problems associated with this past experience. |
A 56-year-old man presented to the emergency department with productive cough, sensation of food stuck in his throat, and excessive drooling of saliva, following ingestion of a burger 3-4 hours ago. He had a past medical history of HIV and COPD. He smoked a pack of cigarettes a day for the last 25 years. On presentation to the emergency room, he was afebrile (temperature of 36.0°C) with stable blood pressure of 119/76 mmHg, but he was tachycardic up to 120 beats/minute. His lab work showed creatinine of 1.60 mg/dL, WBC count of 7,800/mm3, and hemoglobin of 13.3 g/dL. A complete food impaction was suspected and endotracheal intubation was performed to protect the airway. Upon entering the esophagus, a large piece of meat was seen impacted in the proximal esophagus, 18 cm from the incisors (). Repeated attempts to place a Roth net or basket around the piece of impacted meat were unsuccessful. Similarly, efforts to break the impacted meat with biopsy forceps and alligator forceps were unsuccessful. After trying the conventional methods to dislodge the meat bolus unsuccessfully for over 2 hours, a deflated TTS balloon (15–18 mm) was successfully passed along the side of the esophageal mucosa beyond the area of impaction (). The balloon was inflated to 18 mm caudal to the impacted food and the piece of meat was dislodged with gentle traction and was pulled into the mouth from where it was removed with the alligator forceps (). The esophagus was examined after the removal of the impaction and mild erythema was noted at the site of the impaction but no luminal narrowing or stricture was noted (). Multiple biopsies were taken from the proximal and distal esophagus to rule out eosinophilic esophagitis, amongst other pathologies. The patient was successfully extubated and discharged home. The biopsy results were negative for any esophagitis, metaplasia, dysplasia, or carcinoma. The impaction was thought to have happened from ingesting a very large intact piece of meat. |
A 46-year-old female was incidentally found to have an ACoA aneurysm during screening conducted because her mother and maternal uncle both suffered subarachnoid hemorrhage (SAH). Of note, her mother's SAH was due to giant MCA aneurysm. The patient smoked tobacco daily and was normotensive. She had no other medical illnesses. A computed tomography angiogram (CTA) uncovered a 3 mm ACoA aneurysm facing posteriorly with the dome directed to the left []. The right A1 was dominant. The patient underwent a right lateral supraorbital craniotomy for clipping. The aneurysm was largely excluded using a single curved clip, but there was a small remnant based on the right half of the ACoA that was unable to be included in the blades. Bipolar electrocautery was used to coagulate this portion until it was occluded. The patient awoke at her neurological baseline. Postoperative CTA did not reveal any residual aneurysm or DNIA [].\nThe patient's last CTA prior to the discovery of her DNIA was 10 months after surgery at which time there was no new or recurrent aneurysm. She lost to follow-up after this, until 2014, when she presented to the neurosurgery clinic complaining of subjective memory issues. She was neurologically intact. The patient reported that she continued smoking following the initial surgery. A new CTA revealed a 2.5 cm × 3.7 cm × 3.0 cm largely thrombosed, partially calcified DNIA based off of the medial wall of the right pericallosal artery []. A digital subtraction angiogram (DSA) was obtained to further evaluate the lesion. It revealed small mural filling of a giant aneurysm from the right A2 2 mm distal to the A2 takeoff without any ACoA filling []. After a discussion of all options including surgical, endovascular observation, the patient elected to proceed with the endovascular approach. A 2.5 mm × 20 mm Flex Pipeline Embolization Device (PED; [Coviden; Plymouth, Minnesota, USA]) was deployed in the proximal right A1 extending across the aneurysm neck into the distal right A2 []. Angiography following stent deployment revealed immediate stagnation in the filling portion of the aneurysm.\nThe patient was neurologically intact after the procedure. There were no complications. She currently reports that her memory issues are unchanged. She was discharged home on Aspirin and Plavix. |
A 65-year-old female presented to an outside institution with several weeks of headaches and acute worsening of progressive numbness in her right lower extremity. Her past medical history was only significant for basal cell carcinoma of the left nasal ala, resected 5 years prior. Her family history was notable for breast cancer of middle-aged onset in her sister, mother, and grandmother but no prior diagnosis of a familial cancer predisposition syndrome. Her symptoms prompted magnetic resonance imaging (MRI) of the brain, which revealed a predominantly non-enhancing right parietal lesion with patchy enhancing foci extending to the splenium of the corpus callosum (Fig. ). Further imaging with computed tomography (CT) of the chest, abdomen, and pelvis did not reveal a primary systemic tumor to suggest a diagnosis of brain metastasis. She subsequently underwent stereotactic biopsy of her lesion with pathology demonstrating a glial neoplasm, consistent with World Health Organization (WHO) grade II astrocytoma (Fig. ). The Ki-67 index was 1–3% and immunohistochemical staining for TP53 was positive. Further molecular testing was negative for the EGFR variant III, IDH1 mutation, and MGMT promoter methylation. She was subsequently referred to our institution for further adjuvant treatment, where she underwent adjuvant radiation therapy and temozolomide treatment, as well as use of tumor-treating fields (TTF) with the Optune device (Novocure, Jersey, U.K.). A brain MRI obtained several months after completion of chemoradiation and TTF showed radiographic response with stable small foci of enhancement and drastic reduction in perilesional edema (Fig. ). Clinically, the patient was stable with moderate cognitive deficits and requirement of mild assistance with activities of daily living.\nSix months after completion of chemotherapy, she presented with increasing gait instability of two weeks duration and worsening thoracic back pain, localized between her shoulder blades. MRI of her thoracic and lumbar spine was obtained, demonstrating a homogenously enhancing dural-based, extramedullary lesion anterior to the spinal cord at T4 with moderate cord compression, causing edema extending from T2 to T7 (Fig. ). She was neurologically intact on examination other than brisk lower extremity reflexes, allodynia at the T4 level, and baseline right-sided hemibody numbness. Imaging findings were consistent with spinal meningioma, and the patient was admitted with plans for elective, inpatient surgery. However, two days after admission, she developed acute weakness in her bilateral lower extremities and subsequently was taken to the operating room for urgent resection of her tumor, which was removed in its entirety. Intra-operatively, the tumor was noted to be dural-based with a well-defined plane between tumor and the dura as well as the pia of the spinal cord. Motor evoked and somatosensory evoked potentials were improved at the end of the case, compared to baseline levels. Final pathology from the resected specimen was WHO IV gliosarcoma with biphasic tissue architecture, comprised of prominent GFAP-positive glial regions admixed with GFAP-negative spindled areas containing reticulin fibers (Fig. ). The Ki-67 index was elevated >10–15% and further routine molecular testing demonstrated MGMT promoter methylation but was otherwise negative for IDH1 mutation and ATRX loss.\nThe patient was subsequently discharged to rehabilitation and exhibited some improvement in lower extremity strength, albeit remained non-ambulatory and required significant assistance with activities of daily living. Further treatment with adjuvant chemoradiation was considered but given the unfavorable prognosis from new gliosarcoma diagnosis and poor performance status, she elected to undergo hospice care without further imaging or treatment and subsequently expired one month after surgery. |
A 56-year-old man diagnosed with NF1 was referred to our clinic with a suspicion of Birt-Hogg-Dubé syndrome (BHD) due to a history of recurrent spontaneous pneumothorax. He was diagnosed with NF1 28 years earlier. The physical examination of the patient showed multiple café-au-lait macules, freckling of axillae and groins, multiple neurofibromas and plexiform neurofibromas on his face, trunk and extremities, and fibromas of the tongue. The patient was also known to have an optic pathway glioma in his right eye. He had a mother and a sister with known NF1. He thereby met five of the diagnostic criteria of NF1 including first-degree relatives with NF1.\nHe was a former smoker with a smoking history of 10 pack years. During the years, he had seven neurofibromas and one malignant schwannoma removed. Furthermore, he had a variety of other health issues including Barrett’s oesophagus, irritable bowel syndrome, bilateral sensorineural hearing loss and conductive hearing loss on his right ear.\nHe had a remarkable history of at least four incidents of pneumothorax. Both lungs had been involved, and each pneumothorax was treated by tube thoracostomy. The most recent incident was in 2006. The patient attended his general practitioner as he experienced shortness of breath and pain located to the left side of the chest. An X-ray showed an apical pneumothorax of the left lung. The pneumothorax was treated by tube thoracostomy for two days, until the lung was fully inflated. He was referred to the Department of Thoracic Surgery as several bilateral lung bullae and apical cysts were demonstrated on a high-resolution computed tomography (HRCT) (). However, the cysts were not removed surgically due to the diffuse localisation. Furthermore, it had been 10 years since the previous incidence of secondary spontaneous pneumothorax (SSP). It was argued in the medical record that the operation would not benefit the patient, and the risk of doing harm was too great. The same reason was given, when a chest scan in 2017 revealed several cysts, bilateral paraseptal and centrilobular emphysema, pleural thickening, and fibrosis causing interstitial lung disease.\nThe patient was genetically tested for NF1 and BHD, and was found to have a pathogenic variant only in the gene encoding NF1 (c.6709C>T; p.Arg2237). |
A 76-year-old otherwise healthy woman with a history of surgically resected stage 1A right lung adenocarcinoma and no adjuvant chemotherapy had her routine follow-up evaluation with her pulmonologists and oncologist three years postoperatively. Past medical history and social history were unremarkable, with no smoking or alcohol use. Her physical exam was unremarkable with vital signs, laboratory workup, and lung function test within normal limits. The follow-up diagnostic imaging included computerized tomography (CT) (Figure , ) and full-body positron emission tomography (PET) (Figure , ) that showed an incidental 2 cm hypermetabolic right adrenal mass without any other pathological lesions or concerning regional or distant lymphadenopathy.\nA review of a CT scan performed six months prior revealed no right adrenal mass or other suspicious findings. The patient was otherwise healthy with no signs or symptoms concerning a functional adrenal mass or advanced malignancy. She denied abdominal or right flank pain. Biochemical studies for hormonal overproduction, including aldosterone/renin ratio, late-night salivary cortisol, and adrenocorticotropic hormone, and plasma catecholamines with urine metanephrines) were within the physiological ranges. Given the patient’s history, the hypermetabolic activity of the mass, and the likelihood of rapid growth of the mass to 2.5 cm within six months, metastatic disease was high on the differential. Other options considered due to the fast growth rate included adrenocortical carcinoma and less likely adrenal adenoma. Because this was an isolated, quickly growing adrenal mass with no lymphadenopathy, a decision was made to proceed with the right adrenalectomy as the treatment of choice for a definitive resection and histological diagnosis. The patient underwent successful laparoscopic right adrenalectomy.\nProcedure in brief\nAfter the initiation of general endotracheal anesthesia, the patient was placed in the right decubitus position, and operative fields prepped and draped in a standard sterile fashion. A right subcostal approach with four trocars was used. A harmonic scalpel was used to detach the right triangular ligament of the liver, enabling medial rotation and retraction of the right hepatic lobe with a laparoscopic fan retractor. Using hook electrocautery and a harmonic scalpel the retroperitoneum was opened and dissection was carried upwards toward the diaphragm. The lateral border of the inferior vena cava was defined after meticulous dissection around the medial aspect of the right adrenal gland and tumor. After careful dissection and clipping of the right adrenal central vein, the vein was transected close to the adrenal gland with harmonic scalpel. The adrenal gland with the tumor was then mobilized inferiorly, laterally, superiorly, and finally posteriorly until the entire gland with the tumor and a rim of surrounding fatty tissue were completely mobilized. The gland was removed from the peritoneal cavity with an EndoCatch bag and sent to pathology as a permanent specimen. There was minimal blood loss throughout the case, and the final inspection of the operative field reviled no bleeding or other issues. The patient tolerated the procedure well without complications. The final surgical pathology report revealed a 3.5 x 2.2 x 1.5 cm adrenal gland that demonstrated a 2.5 x 2.2 x 1.8 cm variegated ivory-tan to yellow, firm, well-delineated mass involving the adrenal cortex and medulla. Immunohistochemical staining of cells from the mass was positive for cytokeratin 7 (CK7), TTF1, and Napsin-A (Figure ). Immunohistochemistry (IHC) for cytokeratin 20 (CK20) was negative. These results and the patient’s prior medical history were consistent with metastatic lung adenocarcinoma. Postoperatively, the patient recovered as expected and required no additional treatments at this time. At two-week and three months follow-up, she reported no issues or concerns. |
In August 2014, a 40-year-old female, never-smoker, presented to our institution with left shoulder pain. The patient provided written informed consent for the publication of her case details. Computed tomography (CT) revealed a primary mass lesion in the left lower lobe, multiple bilateral pulmonary nodules, and enlargement of mediastinal lymph nodes. Her head magnetic resonance imaging scan revealed several small metastatic nodules, the biggest in cerebellum. The isotope bone scans revealed many metastatic mass lesions in the spine, scapula, rib, nasal, and hip bone. A left supraclavicular lymph node surgical biopsy was conducted (size 1.5×1.5 cm), and the pathological diagnosis was adenocarcinoma (cT4N3M1ab according to the 7th AJCC/UICC tumor staging system) (), with EGFR exon 19 deletion proven using amplication-refractory mutation system assay () and ALK showing up as positive using Ventana immunohistochemistry (IHC) (). The metastatic lesions in the brain and bones are shown in . The main target lesion in the left lung prior to the treatment is shown in . The patient was administered gefitinib as first-line treatment at 250 mg qd in August 2014. Evaluation performed at 1 month revealed partial response across all lesions, with minimal disease burden at 7 months (). However, CT scan showed progression of the lung lesions after 8 months, because of several new lesions in both lungs ().\nVentana IHC has been approved by the China Food and Drug Administration in identifying patients who are eligible for treatment with crizotinib. Based on ALK overexpression assessed using Ventana IHC, the patient was switched to a combinatorial treatment consisting of gefitinib and crizotinib, an ALK inhibitor, in May 2015. The patient was still kept on gefitinib given that the main target lesions were still in control, indicating their lasting response to gefitinib. During the treatment, the patient showed no major adverse events; however, CT scan still showed slow progression (). The patient remained on the combinatorial treatment for 10 months; in April 2016, the patient suffered left shoulder pain again and it was accompanied with shortness of breath. CT showed rapid progression, with several new lesions in both lungs. Repeat biopsy of the metastatic lymph node in R4 mediastinum coupled with NGS was performed to evaluate associated resistance mechanisms.\nNGS results showed EGFR exon 19 deletion (allele frequency [AF] 36.2%, ) with PIK3CA/Akt/mammalian target of rapamycin (mTOR) pathway amplifications (PIK3CA, Akt1, mTOR copy number of 3.46, 3.51, 3.09, respectively) and mTOR mutation (AF 68.4%, ). NGS did not reveal ALK fusion. Due to the presence of ALK overexpression at initial diagnosis, we assessed ALK status using Ventana IHC () and fluorescence in situ hybridization (FISH) (), both of which were negative.\nWe could not identify whether the PIK3CA/Akt1/mTOR pathway amplifications or mTOR mutation was the cause of resistance, so we selected the original biopsy specimen for NGS (the supraclavicular lymph node biopsy specimen in August 2014, when NGS was not popular). NGS showed that the tissue biopsy obtained at initial diagnosis only harbored EGFR mutation in exon 19 deletion (AF 34%, ), and ALK FISH also showed no signal ().\nBased on NGS and subsequent FISH results, the overexpression detected using Ventana IHC at initial diagnosis was most likely to be a false positive. Therefore, chemotherapy consisting of pemetrexed and cisplatin was administered in May 2016. After 2 cycles, CT showed that the disease had progressed to liver and both lungs (). The patient was reluctant to undergo second-line chemotherapy. The patient was switched to everolimus, an mTOR inhibitor, in combination with gefitinib based on previous molecular testing results. Evaluation was performed after 1.5 months of treatment with everolimus, and CT showed stable disease (). Due to the advancements in liquid biopsy and the inability to obtain another tissue biopsy, we performed liquid biopsy coupled with capture-based targeted ultra-deep sequencing. ctDNA analysis showed EGFR 19 exon deletion (allele frequency 17.8%, ) and EGFR20 T790M mutation (allele frequency 7.88%, ). The patient was administered AZD 9291 at a dose of 80 mg/d and achieved partial response with significant reduction in the bilateral pulmonary and liver nodules after 1.4 months () accompanied with the amelioration of left shoulder pain. Unfortunately, the patient experienced severe shortness of breath with a performance status of 3 after treatment with AZD9291 for 1.9 months. A CT scan showed dramatic bulky lung disease (), and the patient passed away on September 30, 2016; the time to progression or death from the initial administration of AZD9291 for the patient was 1.9 months. Overall survival was >24 months. |
A 73-year-old male with a past medical history of diabetes, hypertension, and dyslipidemia presented with a chief complaint of visual change for one day in his left eye. The patient reported that he was at home the previous night when he suddenly experienced loss of vision in the left eye. The patient also reported sharp, 5/10, non-radiating left eye pain during the onset of vision loss which has now resolved. He denies trauma to the eye. He also denies fever, headache, eye discharge, ear pain, nasal congestion, nausea, vomiting, diarrhea, paresthesias, or focal weakness. There is no past medical history of contact lens use, eye surgery, or glaucoma.\nAn examination of extraocular motility revealed full motility in the left and right eyes. The pupils were equal, round, and reactive bilaterally. The visual field testing was normal in the right eye whereas the left eye showed decreased vision in the nasal visual field. Visual acuity was 20/50 in the left eye and 20/20 in the right eye. Intraocular pressure, measured with a Tono-Pen, was 19 mmHg in the left eye and 23 mmHg in the right eye. There was no fluorescein uptake in either eye. A fundoscopic examination was performed after the application of two drops of tropicamide (0.5%) in both eyes. A funduscopic examination of the left eye revealed a black spot at 5 o’clock.\nAn ultrasound examination of the eyes was performed using a linear array 13-6 MHz ultrasound transducer. An occlusive dressing (Tegaderm) was placed on top of the eye to shield it from the gel. Ultrasound gel was applied to the transducer. The probe was placed in a transverse orientation to scan the axial anatomic plane. A scan of the left eye showed a hyperechoic smooth folded membrane within the vitreous, consistent with a retinal detachment (Figure ).\n. The membrane can be seen "floating" on video imaging (Video ).\nThe ophthalmologist on call was consulted, and we were instructed to send the patient to the clinic for follow-up. The patient was discharged with follow-up instructions. The patient saw the ophthalmologist, who referred him to a retinal specialist. Retinal repair surgery was performed on the left eye two days after the emergency department (ED) visit, and the patient reports that he is healing well. |
A 71-year-old Japanese woman presented with a 10-year history of left hip pain and 1-year history of left leg edema. The left leg edema was apparent particularly after long durations of standing, sitting, or walking. The patient had a history of hypertension, arteriosclerosis, and internal carotid artery constriction. We could feel pulses of the femoral and dorsal arteries well even when the leg edema appeared. Physical examination revealed limitation of the range of motion (ROM) of her left hip, with 80° flexion, 20° abduction, 15° adduction, 45° external rotation, and 5° internal rotation. Plain radiographs revealed advanced OA secondary to developmental dysplasia of the left hip. A huge osseous mass was also observed at the inferomedial portion of the femoral head (Figures and ). Based on a previous radiograph, we determined that this mass was absent 8 years ago (). Computed tomography (CT) images and magnetic resonance imaging (MRI) revealed compression of the femoral vessels by the mass (Figures –). On MRI, the intensity of the mass was almost similar to the surrounding bone marrow, with very high intensity at the surface on the short-tau inversion recovery (STIR) image (Figures –). The Japanese orthopaedic association (JOA) hip score [] was 54 points: 20 points in pain, 12 points in ROM, 10 points in gait, and 12 points in activity of daily life. We diagnosed the mass as a capital drop secondary to OA and performed total hip arthroplasty (THA) with resection of the mass. The mass was observed to be completely inside the articular capsule and there was minimal inflammation and adhesion between the mass and capsule. Cartilage tissue was observed on the surface of the mass (). THA was performed using a short tapered wedge stem with a 32 mm ceramic head (Microplasty, BIOMET, Warsaw, IN) and a 48 mm cementless cup with a polyethylene liner (Trident cup with X3 liner, Stryker, Mahwah, NJ) (). Histological findings revealed a peripheral cartilage layer, with mature trabecular bone present in the central zone. No malignant cells were observed ().\nFollowing surgery, the left leg edema immediately diminished and the postoperative course was uneventful. At the latest follow-up, that is, 3 years after the surgery, the patient was able to walk without an aid and was independent in all activities of daily living, with no evidence of recurrence. The ROM of her left hip dramatically improved, with 120° flexion, 45° abduction, 20° adduction, 40° external rotation, and 20° internal rotation and the JOA hip score improved from 54 points preoperatively to 100 points at the latest follow-up. |
A 43-years-old male of Japanese Brazilian with hypesthesia from the right lower lip to the mental region consulted a hospital for the first visit. Computed tomography (CT) revealed a round radiolucent area in the right mandibular body, and biopsy was carried out, leading to a diagnosis of schwannoma. He was referred to the Department of Oral and Maxillofacial Surgery, Gunma University Hospital, for detailed examination and treatment for the first time in March 2015.\nHis physical status was moderate and nutritional status favorable. There was no other notable factor. On visual inspection, there was no tumor lesion in the oral cavity (Fig. ). Hypesthesia extending from the right lower lip to the mental region was noted, and the perception level was approximately 50% of that on the unaffected side. CT imaging revealed dilation of the mandibular canal (Fig. ), and magnetic resonance imaging (MRI) showed an irregular high signal intensity on horizontal sections of short inversion time inversion recovery (STIR). On sagittal sections, dilation of the right mandibular canal was observed around the mandibular foramen. Dynamic images showed crescendo enhancement (Fig. ).\nPreoperative biopsy findings carried out at the first hospital visited by the patient suggested a schwannoma involving the Antoni A region. Briefly, the lesion was immature, suggesting the presence of an active potential. Considering the risk of future tumor growth, the tumor was extirpated under general anesthesia in late April 2015. A macroscopically observed intraoperative finding was a cystic tumor (3.2 × 1.0 cm) associated with the inferior alveolar nerve and vessels; hence, the inferior alveolar nerve was ligated/cut and extirpated as a mass (Fig. a, b). Intraoperative rapid diagnosis confirmed the absence of tumor cells at the margins of the resected nerve specimen. During the 2-year postoperative follow-up, radiopacity was enhanced at the wound site after extirpation of the tumor, confirming favorable bone outgrowth (Fig. c, d). There have been no subsequent clinical findings or images suggestive of relapse.\nIn a hematoxylin-and-eosin (H-E)-stained specimen, bundle-like tumor proliferation was observed around the nerve fiber. In addition, outgrowth of tumor cells was noted around nerve fibers, separating the nerve fiber bundle (Fig. a–c).\nImmunohistologically, the tumor cells were positive for Glut-1 and weakly positive for EMA and Claudin-1. The tumor cells were negative for S-100, but the residual nerve fibers were positive for S-100 (Fig. a–e). Based on these findings, the histopathological diagnosis was INPN. The MIB-1 expression rate of INPN, indicating its cell proliferation ability, was 1.6% (Fig. ).\nTo examine the pathogenesis of this tumor, FISH, which facilitates the detection of gene localization on the chromosomes, was carried out. In this procedure, a cloned gene or DNA fragment is labeled with a non-isotopic compound and hybridized with chromosomal DNA on a glass slide to directly detect the site of in situ hybridization, as a fluorescent signal, on a chromosome. FISH is safer and simpler than conventional autoradiography. In addition, it is advantageous as the results can be obtained in a short time. As standards, the fluorescent body of chromosome 9 (orange signal) indicates the ABL gene, that of chromosome 22 (green signal) indicates the BCR gene, and a yellow signal indicates the BCR-ABL fusion gene. Cellular signals on INPN were visually counted and classified. Measurement criteria for detecting the ALK fusion gene using the FISH method were quoted as diagnostic criteria. The principle is similar to that of BCR-ABL fusion gene detection. Samples with < 5 positive cells per 50 cells (< 5/50 or < 10%) were regarded as negative, and those with > 25 positive cells per 50 cells (> 25/50 or > 50%) were regarded as positive. The results showed that signals suggestive of BCR-ABL fusion gene formation were observed in 30 of 50 cells. In 12 of the 50 cells, the green signal of the BCR gene was present in the absence of fusion gene signals, suggesting deletion of the BCR region. Thus, 42 of the 50 cells were positive, suggesting chromosome 22 abnormalities. According to the above diagnostic criteria, our patient was regarded as having a chromosome 22 abnormality. Based on this finding, it was confirmed that this disease was a tumorous lesion (Fig. ). |
A thirty-three-year-old woman was admitted to our clinic at the 37th week of her gestation for delivery with a history of gravidity six, parity two, and abortion three. She had one previous cesarean section delivery. Her preoperative hemoglobin was 10.8 g/dL, prothrombin time (PT) 10.5 seconds, activated partial thromboplastin time (aPTT) 29 seconds, international normalized ratio 2.3, and platelet count 385x109/L. Transabdominal sonography and magnetic resonance imaging displayed total placenta previa, with myometrial invasion to the urinary bladder at the anterior wall of uterus (, ). The patient stated preoperatively that she preferred a conservative approach rather than hysterectomy in case of massive bleeding. After cesarean delivery of a transverse baby through a Pfannenstiel incision and removal of the placenta, a 5-6 cm area of tissue loss was detected at the anterior wall of the uterus and bleeding occurred from the cervix and posterior wall of the bladder. Pelvic packing was applied on the pelvic vessels for 20 minutes, the bleeding sites were sutured with 1.0 polyglactine sutures, and Sengstaken-Blakemore balloon catheter was placed in the uterus before suturing. A stomach balloon was filled with 250 mL saline and an esophageal balloon was filled with 400 mL saline to provide compression on the lower uterine isthmic and cervical bleeds, nevertheless, bleeding continued. Bilateral uterine and hypogastric artery ligations were planned due to hemorrhage. The left external iliac artery was accidentally held and bonded as the left hypogastric artery, which was released within a minute after distinguishing the vessels. Following this mistake, the uterine and hypogastric arteries were ligated on both sides. The patient lost about 2000 cc of blood due to the intraoperative hemorrhage as measured by adding 1650 cc blood in the aspirator and counted gauzes. She received erythrocyte suspension (3 units preoperatively and 4 unites postoperatively) and 3 packs of fresh frozen plasma. The patient had no findings of hypotension or shock at any time. The patient reported severe pain in both legs in the recovery room; it was observed that left dorsalis pedis and femoral artery pulses were absent. Doppler sonography showed a distinct stricture and triphasic flow loss on the left femoral artery. Diagnostic angiography was performed by a cardiologist. After a 6-F introducer sheath was inserted, it was confirmed that both external iliac arteries were occluded (). Intravenous heparin (100 IU/kg) was administered afterwards. A 6-F left internal mammary artery catheter was used with 0.035 hydrophilic guide wires to cross the occlusion. Angioplasty was performed first to the right and then contralaterally to the left external iliac artery with a standard balloon (8x80 mm). A completion angiogram concluded the procedure. The femoral access site managed manually with digital pressure. The balloon catheter was removed after 30 hours. The patient and her child were discharged on the 4th postoperative day with no further events. Informed consent was obtained from the patient. |
60-year-old previously healthy male presented with a progressive intermittent claudication of his right leg of 2-month duration. He is a nonsmoker and occasionally consumes alcohol. He did not have a past history of diabetes mellitus, hypertension, or dyslipidaemia. His right lower limb claudication gradually became worse over one month and he experienced right leg pain even on minimal exertion in walking few meters. For the last four months, he had an evening low grade fever, profound myalgia with loss of appetite, and a gradual weight loss of 8 kg. Two weeks before the admission he noticed a weakness of his right ankle with a rash on his right leg. He had no history of abdominal or testicular pain.\nOn examination he was afebrile, pale, and cachectic. There was no lymphadenopathy or organomegaly. He had a livedo reticularis rash over the right leg with polymorphic vasculitic changes (). His blood pressure was 160/100 Hg mm. The examination of peripheral pulses revealed absent femoral, popliteal, and distal pulses of the right lower limb. On the left lower limb, he had preserved popliteal and femoral pulses with absent dorsalis pedis and posterior tibial pulses. His respiratory system and abdominal examination were normal. He had a right-side foot drop with sensory impairment over the right dorsum of foot with preserved deep tendon reflexes. Fundal examination was normal.\nHis investigations revealed normocytic normochromic anaemia (8.4 g/dl) with an ESR of 120 mm per 1st hour. His CRP was 92 u/l (<6). Transaminases were normal and his albumin to globulin ratio was reversed. Renal functions were normal (serum creatinine 90 mmol/l) and the urine tests revealed a significant microscopic haematuria without proteinuria or dysmorphic red cells. Chest radiograph was normal. His autoimmune antibody testing including ANA and ANCA (including MPO and PR3) and rheumatoid factor was negative. His 2D echocardiogram, homocysteine level, and HbA1c and lipid profile were within normal limits and the HIV status was negative. His hepatitis B and C status was also negative. Digital subtraction angiography of aorta and lower limb revealed left side renal artery stenosis () with segmental occlusion of left iliofemoral and right femoral arteries (). There was no evidence of aneurysms in angiography. Nerve conduction study revealed right-side peroneal nerve palsy. Deep punch biopsy from vasculitic skin lesions showed segmental transmural inflammation of muscular arteries with fibrinoid necrosis with a polymorphonuclear infiltrate suggestive of a medium vessel vasculitis.\nWith the history of constitutional symptoms with severe myalgia, new onset hypertension, mononeuropathy together with angiographic changes, and medium vessel involvement in histology, we diagnosed PAN in our patient. After excluding viral causes such as hepatitis B, hepatitis C, and HIV, we had to start immediate immunosuppressive medication. Due to rapidly progressing limb-threatening disease, we started the patient on steroid pulses and intravenous cyclophosphamide. Subsequently, due to the disabling ischaemic rest pain we referred the patient to vascular surgical team and he underwent a successful right-side iliofemoral bypass.\nAfter aggressive immunosuppression and bypass surgery our patient could mobilize with aid and his constitutional symptoms and the vasculitic rash improved with time. The rest of the pain of right lower limb disappeared and he could walk for 20–30 m without developing claudication. We continued giving the patient steroids tailing off gradually and planned on monthly intravenous cyclophosphamide therapy. With treatment, his constitutional symptoms and myalgia reduced and the ESR came down to 60 in 1st hour. His weight was stable. Within the next 6 months, while on immunosuppressants, he was admitted with recurrent infections to the hospital, so that we had to stop cyclophosphamide and switch to azathioprine. |
A 40-year-old female complaining of dysphagia came to our gastroenterology outpatient clinic. In her upper endoscopy, an ulcerative mass was found between 25 and 38 cm from the incisors (). After initial work-up and also after the pathology report of an endoscopic biopsy (which was squamous cell cancer), the case was discussed in the oncologic committee. All blood tests (biochemistry, complete blood count) were in the normal range. Pretreatment computed tomography (CT) was as seen in . Positron emission tomography (PET) was performed for occult distant metastases and there were no metastases. The patient's performance status was good and she had no comorbidities. Unfortunately, there is no endoscopic ultrasound unit (EUS) in our hospital so this modality was not performed.\nAfter our case was discussed in the oncologic committee that gathered every week on Thursday, it was decided to characterize the clinical stage of the tumour as T3 or T4a, NX, M0 according to the 7th AJCC Staging System. As expected, for this advanced esophageal tumor, a neoadjuvant CRT decision was taken. In our oncology clinic, chemotherapy and simultaneous radiotherapy were given as follows: Paclitaxel (50 mg/m2), Carboplatin (target AUC = 2 mg/Ml·min) plus radiotherapy (41.4 Gy in 23 fractions for 5 days per week). This chemotherapy protocol was given on the first day of radiotherapy and once a week until reaching 5 weeks. After the patient had completed the whole CRT protocol, a control CT was performed (). According to the CT report, there was more than 50% response.\nSix weeks after CRT, with a curative intention, minimal invasive surgery (MIS) was performed (thoracoscopic esophageal mobilization done first and then gastric mobilization and tube formation performed with laparotomy and cervical anastomosis). There was no tumour or any other lesion when the specimen was examined intraoperatively. No intraoperative complications occurred. However, on the 5th postoperative day, elevated temperature (38.7°C) and tachycardia (145 beats/min) developed. In radiological examination and with methylene blue test, we found a leak in the stapler line on the gastric wall that was formed while creating a gastric tube. Subsequently, despite all interventions and reoperation she was still in the intensive care unit and was intubated at the time of this writing.\nThe pathology report was as follows. “There were no neoplastic cells in the suspected area of the esophageal mucosa upon examination with HMWCK, P63, PAS, and dPAS staining. There were areas of ulceration and severe chronic inflammation and fibrosis in the esophageal lumen: perineural invasion (−), lymphovascular invasion (−). There was no cancer at resection margins. Four metastatic lymph nodes (Figures and ) were infiltrated with squamous cell cancer. The other 21 harvested lymph nodes were reactive.” We then consulted with the pathologist and requested reevaluation of the specimen and of course the lymph nodes. Nevertheless, the pathological reevaluation was the same. |
The patient, a 54-year-old female, is a known case of carcinoma of the head of the pancreas, which revealed being a periampullary pancreatic adenocarcinoma after histopathological examination. She underwent uneventful Whipple's procedure in September 2010 followed by adjuvant chemotherapy (carboplatin and methotrexate), with the last cycle being five years before her presentation. She has been on regular follow-up with oncology department without local or systemic recurrence.\nIn November 2015, she presented with a progressive painless swelling in the right parietal region of six-month duration. There was no history of trauma or previous head radiation. Before the presentation, patient overall health condition was stable with unremarkable history. Her social history was unremarkable and specifically negative for smoking.\nHer physical exam and vital signs were within normal. Local examination revealed a hard mass of 5 × 6 cm in diameter with distinct edges, fixed to the skull.\nThe scalp over it was mobile and with no discoloration or discharges and no regional cervical lymphadenopathy. Neurological examination revealed a conscious, alert, and oriented patient without a focal neurological deficit.\nLaboratory workup including CBC, renal, hematology, and hepatic profiles was within normal. Chest X-ray identified a small nodule in the left upper lobe.\nInvestigations also included CT brain, which demonstrated a lytic bony lesion with classic sunburst periosteal reaction measuring 4.3 × 3.1 × 5.4 cm (). The lesion was causing mild displacement of the adjunct cortex with no detected calcifications. There was no underlying vasogenic edema, and no other osseous skull lesions were detected. The cerebral and cerebellar parenchyma showed preserved gray-white matter differentiation, with no evidence of acute territorial infarction and no evidence of abnormally enhancing cerebral parenchyma or meninges. There was no midline shift, and ventricular system, basal cistern, and cortical sulci are within normal limits.\nMagnetic resonance imaging (MRI) demonstrated a right parietal hyperintense lesion in nonenhanced T1- and T2-weighted image sequences which involved full skull thickness and has an epidural extension. The lesion demonstrates significant heterogenous enhancement after gadolinium administration, with adjunct focal dural enhancement. The gradient echo sequences demonstrate some areas of susceptibility artifacts within the lesion representing calcification (Figures , , and ). Further screening with CT scan of the chest and abdomen did not reveal any lesions aside from the lung nodule, which was malignant, looking like pleural-based lobulated left upper lobe soft tissue mass, with central necrosis measuring 4.1 × 5.3 cm (Figures and ). Moreover, there were no additional lung lesions and no pleural effusion. Bone scan showed no evidence of other osseous metastases.\nThe provisional diagnosis was that the skull lesion was probably a metastatic deposit of the previously resected pancreatic cancer. Thus, surgery was planned to excise the skull lesion and send for histopathology, followed by CT guided biopsy of the lung nodule in a later date.\nUnder general anesthesia, the patient was placed in a supine position, with the head fixed using three-pin Mayfield clamp. The patient was registered using neuronavigation, and anatomical marking of the tumor was achieved. After usual draping under aseptic condition, an incision was made in a straight fashion. The skull flap was reflected, and the lesion was identified without scalp involvement (). Two burr holes were created, and free craniotomy flap was raised with the precise demarcation of 2 cm from the tumor edges using the navigation. The entire lesion was excised; it was brown in color, slippery, and with high viscosity (Figures , , and ). The dura was excised up to the healthy looking edges of the craniotomy; after that, a dural graft measuring 4 × 4 cm was used to fill the dural defect created. The underlying brain tissue was normal without infiltration from the lesion. Titanium mesh was fixed, and cement was applied to fill the bony defect resulting from the craniotomy (Figures and ). The excised lesion was sent for histopathology. The patient tolerated the procedures and the postoperative period was unremarkable.\nHistopathological examination of the lesion revealed a piece of bone (5.5 cm × 5 cm × 1 cm) almost entirely replaced by a bulging mass that measures 1.5 cm in thickness. The cut surface is bone with cystic contents filled with mucinous material. Sections from bone revealed that a neoplastic growth was destructing and infiltrating in between bone trabeculae. The tumor infiltrated in form of glands lined by columnar epithelial cells with intracytoplasmic mucin. The nuclei are hyperchromatic and mildly pleomorphic with some showing prominent nucleoli (). Immunohistochemistry is positive for Napsin A with basal cytoplasmic granular positivity pattern. It is also positive for cytokeratins CK7 and CK19 but negative for CK20, caudal type homeobox 2 (CDX2), and thyroid transcription factor-1 (TTF1) ().\nAn issue was raised after histopathological examination that the skull lesion is mucinous in type, unlike the resected pancreatic adenocarcinoma, which was nonmucinous, raising the possibility that the solitary lung nodule is the source of this lesion as a second primary cancer.\nThe patient has been admitted again for CT guided biopsy of the lung nodule. Surprisingly, the obtained biopsy, after histopathological examination, showed infiltrative glandular epithelium with intracytoplasmic mucin, hyperchromatic nuclei, and prominent nucleoli, which is identical to the histopathological morphology of skull lesion, thus proving lung nodule to be a metachronous adenocarcinoma presenting initially with a skull metastasis. The sample of lung biopsy was tested for Epidermal Growth Factor Receptor (EGFR) status, and it was found to be of the wild type.\nThe patient had unremarkable recovery and received whole brain radiation 2 weeks later. The follow-up CT scan () revealed good reconstruction, and MRI scan revealed no recurrence at one-year follow-up. In regard to the treatment of the lung lesion, the patient received six cycles of chemotherapy (carboplatin and pemetrexed) for the primary lung adenocarcinoma, which failed to provide a tumor response. Then, she received three cycles of Docetaxel, which also failed too. Due to the poor response to chemotherapy, she underwent palliative radiotherapy for the lung mass, and she survives as of her last follow-up in June 2017 with stable lung disease. |
An 8-month-old girl presented in the pediatric clinic with complaints of vomiting and drooping of left eyelid for 3 weeks. On general physical examination, she was found to have bradycardia and hypotension. On neurological examination, ptosis of left eyelid and papilledema were noted. Examination of other systems was normal. Magnetic resonance imaging (MRI) of brain showed an ill-defined hypodense lesion with mild, patchy peripheral enhancement involving the left cerebellar hemisphere. The lesion measured 4.5 × 4 cm2 and was causing near complete obliteration of the fourth ventricle with moderate to severe dilatation of lateral and third ventricles (). A ventriculoperitoneal shunt was placed to relieve the raised intracranial pressure.\nThe patient underwent a posterior fossa craniotomy. Intra-operatively, a tan white, soft, moderately vascular, solid tumor was seen at the roof of the fourth ventricle. Gross total resection of the tumor was attempted but the postoperative MRI showed evidence of residual tumor.\nHistologically, the tumor predominantly showed highly cellular areas composed of primitive cells arranged in diffuse sheets, pseudopapillae and broad trabeculae (ribbon-like arrangement). Hypocellular areas showing abundant neuropil containing clusters of primitive cells as well as differentiated cells with glial and neuronal differentiation was also seen. The primitive cells showed increased nuclear to cytoplasmic ratio, scant cytoplasm, and round to oval nuclei with frequent mitotic figures and apoptosis. Necrosis was also seen in the cellular areas. In hypocellular areas with abundant neuropil, true rosettes lined by multiple layers of primitive cells were seen. Some of these rosettes had empty central lumina, while others demonstrated a central core of fibrillary material ( and ). In cellular areas, primitive cells were arranged around vessels to form pseudorosettes. True rosettes were not seen in the cellular areas. The primitive cell population showed diffuse expression for IHC stains vimentin, CD99, INI-1 and p53. Patchy expression was also observed for IHC stains synaptophysin and chromogranin A, while patchy dot-like expression was seen for epithelial membrane antigen (EMA) and neurofilament. Ki-67 (Mib-1) proliferative index was markedly raised (70%–80%) in the cellular areas. Cytokeratins, glial fibrillary acidic protein (GFAP), neuron-specific enolase (NSE) and desmin were negative in the primitive cells. In areas with trabecular arrangement, special stain periodic acid–Schiff (PAS) did not highlight any outer membrane. Neuropil-rich areas showed positive expression for IHC stains GFAP, synaptophysin, NSE and neurofilament. Ki-67 (Mib-1) proliferative index was low (<1%) in these areas. The cells forming true rosettes showed positive expression for Vimentin, CD99 and INI-1 IHC stains and a high Ki-67 (Mib-1) proliferative index (70%–80%). Histological features were characteristic for the entity previously defined as ETANTR. The slides and blocks were sent to The Hospital for Sick Children, Toronto, Ontario, Canada for expert consult and molecular confirmation. Fluorescence in situ hybridization (FISH) analysis demonstrated amplification of 19q13.41 chromosome region. Tumor cells also exhibited diffuse positive expression for IHC stain LIN28A. Hence, the diagnosis of ETMR, C19MC-altered was confirmed.\nOn the sixth postoperative day, the patient developed paraplegia. MRI scan showed widespread central nervous system (CNS) involvement and drop metastases involving cerebellopontine angle, prepontine region, as well as cervical, thoracic, lumbar and sacral spine. High-dose chemotherapy was suggested initially but due to intermittent respiratory distress, family opted for comfort care only. Patient expired a week after diagnosis. |
We analyzed a 60-year-old man who was admitted to our department complaining of a 1-year history of a loss of appetite with abdominal distension and an 8-month history of dizziness with numbness of the bilateral lower extremities. In addition, the patient had a history of type II diabetes mellitus for 14 years and hypertension for 25 years. The patient was diagnosed as diabetic peripheral neuropathy before he came to our hospital and the diagnosis on admission was (1) autonomic dysfunction; (2) type II diabetes mellitus; and (3) hypertension. Gradually, he suffered from aggravated dizziness when standing up from a squatting position. He also suffered from alternating bouts of diarrhea and constipation. We performed a physical examination, laboratory tests, brain magnetic resonance imaging (MRI), positron emission tomography/computed tomography (PET–CT), lumbar puncture, marrow puncture, and biopsy of the sural nerve and rectal membrane. The study protocol was approved by the local committee on human research, and the patient provided his informed consent.\nOn examination, the patient’s blood pressure was 120/80 mmHg in the supine position and 60/40 mmHg in the standing position. He had normal consciousness and orientation. Muscle strength, tone of the extremities, and coordinate movement were all normal. There was an absence of sensation, bilaterally below the knee. All of the tendon reflexes were normal, with no pathological reflexes. Increased sweating from the chest was noted.\nAn electromyogram showed mixed peripheral nerve damage predominately in the sensory nerve fibers of the right extensor digitorum muscle and the tibialis anterior muscle. Doppler echocardiography showed diffuse hypertrophy of the left ventricular wall; the thickness of the ventricular septum was 17 mm. Plain and enhanced brain MRI scanning revealed mild brain atrophy in the bilateral hemisphere. Brain PET–CT was normal. Holter monitoring showed a second-degree atrioventricular block (type I, 2:1 block). The patient’s heart rate reduced to 30 beats per minute, and he was transferred to the Department of Cardiology for the implantation of a permanent pacemaker. A lumbar puncture was performed to collect cerebrospinal fluid (CSF); CSF analysis was normal, although CSF protein concentration (1,680 mg/L) was elevated. Transthyretin (TTR) gene sequencing showed no causative mutation. The Bence Jones protein urine test was positive, and the serum electrophoresis blood test was weakly positive for Bence Jones protein. Urinary protein or micro-albumin excretion was only mildly elevated.\nSural nerve and rectal membrane biopsies were performed. Congo red staining was positive, and apple-green birefringence was visualized under polarized light microscopy. Deposition of amyloid most commonly identified around blood vessels in the mesenchyme of the intestinal mucosa (Figure ). Furthermore, endoneurial and perivascular amyloid deposition was detected in the sural nerve (Figure ). Bone marrow smears showed active bone marrow hyperplasia, while bone marrow puncture indicated that the proportion of abnormal plasma cells were 0.56% of the whole blood cells and 87.4% of the total number of plasma cells.\nThe patient’s symptoms appeared to recover following gamma globulin implosive therapy (0.4 g/kg/day) and dexamethasone (10 mg/day) management. The difference in systolic blood pressure between the supine and standing position reduced to 20 mmHg, and the patient could walk for approximately 10 min without assistance. The frequency of diarrhea was reduced. However, his symptoms worsened 1 week after the improvement. He could sit for approximately 20 min, but he still felt dizzy when standing. In his follow-up visit 3 months after hospital discharge, the systolic blood pressure difference between the supine and standing position was approximately 30 mmHg, and he could walk for 200 m with a supportive device. He reported that he had experienced an episode of ventricular fibrillation during his sleep, in which he experienced reduced blood pressure and oxygen concentration, but his symptoms resolved after emergency treatment. In terms of his drug regimen, dexamethasone was replaced with hydrocortisone. The patient refused to be transferred to the Department of Hematology for treatment and went back to his home town. Unfortunately, the patient died in March 2017 due to ventricular fibrillation and renal failure. There was no autopsy result because the relatives of the patient refused to perform autopsy after the patient died. |
A 17-year-old boy was referred to the thoracic surgery department due to a mass located on the right side of the back. The patient had experienced intermittent pain and discomfort for several months at the time of admission, and localized swelling was noted on his back during physical examination. A chest radiograph showed a radiolucent lesion with cortical disruption in the posterolateral aspect of the right 5th rib. A computed tomography scan performed at the local clinic revealed an osteolytic mass with a juxtacortical extension (). Focal calcification was identified, but no periosteal reaction was observed. Overall radiologic findings suggested a benign tumor, including fibrous dysplasia (FD). En bloc resection was performed without a prior biopsy.\nThe surgical specimen revealed a 3.1-cm-sized, ill-defined, eccentrically located, hard mass. The resected tumor was confined to the rib without expansion to the surrounding soft tissue, although the cortex had been partly destroyed. The cut surface of the tumor showed spotty areas of cartilaginous tissue (). Histologically, the tumor was predominantly composed of hyaline cartilage nodules juxtaposed with hypocellular fibrous tissue (). The cartilage islands throughout the tumor revealed low to intermediate cellularity but did not have any cytologic features of malignancy, such as nuclear atypia, multinucleation, mitosis, or myxoid changes (). The hypocellular fibrotic area measured 1 cm in size, accounted for about 20% of the lesion, and consisted of benign spindle-to-stellate cells in a collagenous stroma without nuclear atypia or mitotic figures, suggesting low-grade sarcoma (). The tumor was characterized by enchondral ossification at the periphery of the cartilage deposits, reminiscent of the epiphyseal growth plate or the cartilage cap of an osteochondroma (). Newly formed bone was present and appeared as well-formed long and short trabeculae with prominent osteoblastic rimming. Multinucleated giant cells were not observed. Because the tumor was characterized as a fibro-osseous lesion with abundant cartilage nodules, the possibility of low-grade osteosarcoma, chondrosarcoma, and fibrocartilaginous dysplasia (FCD), a variant of FD, were considered. Immunohistochemical stains for murine double minute 2 (MDM2) and cyclin-dependent kinase 4 (CDK4) were negative in the spindle cells, excluding the possibility of low-grade osteosarcoma. Chondrosarcoma was unlikely because the cartilage islands were composed of benign chondrocytes without atypia, as described earlier. In addition, the lesion showed well-formed bone trabeculae and did not feature the characteristic, irregular, curvilinear trabeculae of woven bone without the osteoblastic rimming of FD or FCD. Epiphyseal growth plate-like enchondral ossification was another distinguishing feature, distinguishing it from FCD. A final diagnosis of FM was rendered based on the overall histologic findings. The patient was regularly followed every 3 months and is doing well 1 year after resection. |
A 10-year-old boy is complaining of brown stains on the upper front tooth region since 2 years reported to the clinic []. After a clinical examination and taking the patient's medical history, the stains were diagnosed as fluorosis. In consideration of his age, we should not recommend the treatment options that involve significant removal of tooth structure, such as porcelain or composite resin veneers. A conservative treatment plan was presented to the patient that would fulfill his request, which is bleaching with sodium hypochlorite.\nThe teeth are cleaned with flour of pumice using a rubber cup to remove all plaque and any extrinsic surface discolorations. The teeth are then isolated with a rubber dam, and each tooth is ligated to protect the soft tissues from the bleaching agent. To allow better penetration of the bleaching agent, the enamel surface is etched for 60 s with 37% phosphoric acid. Sodium hypochlorite (5%) is applied to the entire tooth surface using a cotton applicator. The bleach is continuously reapplied to the tooth as it evaporates. The teeth were bleached in a single appointment for 25–30 min. After the bleaching, the previously stained lesions will have a white mottled appearance, which is much more esthetically acceptable.\nTo prevent organic material from re-entering the porous enamel, the bleached and etched teeth can be sealed after achieving the optimal bleach result. Sealing of the hypomineralized surface is accomplished by rinsing and drying the tooth to removal all bleaching agent. Etch the tooth for 30 s with 37% phosphoric acid, rinse with water and treat the bleached and etched surface with a highly penetrating clear resin like composite bonding agent. The resin will perfuse the etched and porous enamel, creating resin tags that occlude the porosities and prevent re-staining of the hypomineralized lesion. We have observed marked degree of success even after 6 months []. |
A 46-year-old female who worked in the restaurant business was injured in a fall while riding a motorcycle. She complained of right knee pain and swelling, and was admitted to our hospital nine days after the injury. Her right knee showed patellar ballottement and a positive posterior drawer test, with this knee showing >1 cm posterior sagging compared with the left knee. Radiographs and computed tomography (CT) images of the right knee showed a displaced avulsion fracture of the PCL tibial attachment (). She was diagnosed with a PCL tibial attachment avulsion fracture of the right knee and underwent arthroscopic osteosynthesis 13 days after the injury after providing informed consent.\nThe patient was placed in the supine position under general anesthesia. During the operation, the affected knee was set on the table at 90° flexion with a leg holder (Zimmer, Warsaw, IN, USA), a position that relaxes the posterior structures and avoids neurovascular injury. Three arthroscopic portals (anterolateral, anteromedial, and posteromedial portals) were created for intraarticular surgery; to simplify surgery, a posterolateral portal was omitted. The joint was thoroughly examined through the anterolateral and anteromedial portals, and associated lesions were treated arthroscopically. There was no damage to the articular cartilage or substance of the PCL. The anteromedial portal was positioned just medial to the medial border of the patellar tendon to facilitate intercondylar access of the arthroscope to the posterior compartment. While viewing through the anterolateral portal, a blunt trocar in a sheath was gently inserted from the anteromedial portal, through the intercondylar notch, and into the posteromedial compartment. The trocar in the sheath was replaced with the arthroscope to visualize the posteromedial compartment. Under direct visualization, a spinal needle was inserted percutaneously into the posteromedial compartment at the joint level to ascertain the location and direction of the posteromedial portal. After making a small incision beside the needle, the posteromedial portal was established by expanding the portal with a straight inducer. To visualize the fragment accurately through the anteromedial and posteromedial portals, the sheaths inserted through these portals were kept in position during the operation. Under arthroscopic view from both portals, the avulsed fragment was carefully ascertained by the blunt trocar or a probe. Blood clots, free bony fragments, and soft tissue interposing between the fracture site and posterior capsule were debrided using a motorized shaver through the posteromedial portal until the avulsed fragment and tibial bony bed could be clearly released from the posterior capsule. Particular attention was paid to avoid injuring the PCL and bony fragment when shaving around the fragment. The medial wall of the posterior septum required partial shaving during the process, but entire perforation of the septum was not necessary. A 70 degree scope was not used in our patient because resection of the entire posterior septum was not necessary. The posterior septum has been reported to consist of two thin fibrous membranes, with a synovial membrane and intervening fatty tissue. The posterior septum is located laterally, allowing insertion of a Kirschner wire (K-wire) between the bony fragment and posterior septum by shaving the medial wall of the posterior septum. If the fracture does not extend to the lateral side of the tibia, the posterior septum can be dissected from the posteromedial portal. The synovial membrane between the anterior cruciate ligament (ACL) and PCL of the intercondylar fossa can be dissected by inserting an arthroscope between the ACL and PCL, making it possible to view the lateral side of the bone fragments. A 2-cm longitudinal incision was made just medial and 3 cm distal to the tibial tubercle. Under arthroscopic visualization from the anteromedial or posteromedial portal, a 2.0-mm K-wire was inserted through the anterior incision to a point just medial to the medial border of the anterior tibial bony bed (). It was difficult to insert the tibial tunnel aiming device for the PCL because the PCL was present in the intercondylar fossa. Accurate insertion of the K-wire requires careful preoperative measurements of the angle and distance of the K-wire from its puncture site point to the PCL attachment. As per specific preoperative planning, we used CT or magnetic resonance imaging. By using a sagittal image wherein the PCL attachment of tibia was revealed, we measured the distance from the tibial articular surface to the insertion point of the K-wire. In addition, we measured the insertion angle between the K-wire and the anterior cortex of tibia. Damage to the posterior neurovascular bundle can be avoided by not inserting the K-wire at a greater distance. A blunt rod was inserted from the anteromedial portal toward the PCL attachment portion, and the arthroscope was inserted from the posteromedial portal. It is important to insert the K-wire towards the point of intersection of the blunt rod from the anteromedial portal and the arthroscope from the posteromedial portal. In particular, the direction of the blunt rod became the rotational reference for the K-wire insertion.\nCare was taken to prevent the K-wire from penetrating the fragment or center of the bed. A 0.55-mm suture wire was folded to make a loop and introduced into the posteromedial compartment via the bone tunnel. The same procedure was repeated for the lateral side of the bony bed. Thus, two loops of suture wire were inserted into the posteromedial compartment (). The loops were opened with forceps in the posteromedial compartment. A 16-gauge needle was inserted from the posteromedial portal, through the medial and lateral loop wires, and into the posteromedial compartment. A 2-0 nylon thread was passed through the needle, and approximately 5 cm of the thread was inserted into the posteromedial compartment (). The nylon thread was relayed to the 2-0 FiberWire (Arthrex, Naples, FL, USA), and the lateral and medial loop wires attached to the thread were pulled to the outside (). The thread was fixed onto the tibia using an Endobutton fixation device (Smith & Nephew, Andover, MA, USA) while applying anterior drawer force to the proximal tibia with the knee flexed at 90°, without cutting the cortical bridge between the bone tunnels (). Another fixation thread was placed on the posterior side of the bony bed and fixed in the same manner, resulting in two fixation threads being placed over the bony fragment. After tying the threads, reduction and fixation of the fragment were confirmed arthroscopically.\nA plaster cast was applied for 2 weeks with the knee in the extended position. Isometric exercises to strengthen the quadriceps muscle were started 2 days postoperatively. Partial weight bearing was started with an articulated hard brace placed on the knee, and 3 weeks were required for full weight bearing. Range of motion exercises in 0°–90° knee flexion were started 2 weeks after surgery for 3 weeks. Subsequently, a maximum flexion of 120° was permitted until 10 weeks after surgery.\nThree months after the operation, bone union was confirmed by X-ray and CT imaging (). The patient returned to her job without any sequelae. Eighteen months after the operation, she had no limit in range of motion and no posterior sagging of the right knee. |
A 29 years old primigravida patient presented with a 6 weeks history of amenorrhea. In physical examination she had a uterus of 6 weeks pregnancy and the ultrasonography examination of the abdomen showed a myoma measuring about 107 × 60 mm (Fig. ).\nShe didn’t have any symptoms related to the myoma such as abnormal uterine bleeding or pain, before pregnancy and also there were no complications during pregnancy due of myoma. For example the level of her hemoglobin before and after operation was 13.4 and 12.8 mg/dl.\nIn serial sonographic studies, the size of the myoma was increasing and in the last one, the weight of fetus was below 10% of normal growth curve. At the third trimester, the myoma was palpable, about 15-20 cm. so she was considered to undergo the elective cesarean section due to the probability of obstructed labor in 38-39 weeks of pregnancy.\nAfter consultation with anesthesiologist, the cesarean section was performed.\nThe abdomen was opened with pfannenstiel incision. After take down of the bladder the lower segment of the uterus was incised and due to the huge myoma in the lower segment, the incision was extended a bit upper. When the amniotic membrane was found and ruptured, a female 2500 gr. weighted newborn was delivered with difficulty. The apgar score of the newborn was 8 at the first minute.\nAfter removal of the placenta high dose oxytocin (30 IU /1000 cc. ringer lactate) was infused in 1 hour.\nThe myomectomy was done and a single intra-mural myoma measuring about 20 cm. weighting 1500 gr. was removed. During the procedure of myomectomy, infusion of oxytocin was continued.\nThe amount of hemorrhage was almost 1200 cc that was similar to other cesarean section cases which was compensated with ringer-lactate solution.\nThe duration of operation was 38 minute that added 10 minutes and Hgb. level after surgery was 12.8.\nThe suture line over the uterus after the surgery, was completely similar to those cases of lower segment cesarean section (Fig. ).\nThe histological examinations confirmed the diagnosis of myoma.\nThe patient was discharged two days after surgery and at the time of discharge, involution of uterus was normal and we didn’t face any post partum morbidity. |
A 77-year-old female began feeling discomfort in her abdomen around the beginning of September 2019. She also developed night sweats and fever, with little improvement in symptoms. On September 30, she had acute severe abdominal pain and was taken to the emergency room in the previous hospital. On examination, the patient presented with a fever of 38 degrees, rebound pain in the lower abdomen, and muscular defenses. CT scans showed jejunum and ileum wall thickening. It showed fatty deposits around the small intestinal tract and thickening of the nearby intestinal wall, and gastrointestinal perforation could not be ruled out. CT scans also showed adhesions due to inflammation of the sigmoid colon and small intestine (part of the ileum) (Fig. ). She was guided to our hospital for further investigation. The laboratory tests revealed a C-reactive protein (CRP) level of 6.80 mg/dL (normal range: 0–0.14 mg/dL) and an interleukin 2 receptor (IL2R) level of 3,652 (normal range: 121–613 U/mL) (Table ). Transanal small bowel balloon endoscopy revealed mild edema with petechial erythema, which was thought to be lymphatic follicular hyperplasia around 100 cm the oral side from the Bauhin valve. There were no abnormal findings in the colon. Biopsies were taken from the site of the suspected lymphatic follicle hyperplasia (Fig. ). Transoral small bowel balloon endoscopy revealed shallow erosions and edematous mucosa which were detected around 200 cm from the anal side at the vicinity of the Trites ligament. We found ulcers with surrounded disrupted villous structures around the anal side where erosion with edematous mucosa were noticed. We obtained one specimen from the erosion site and the other from the ulcer site (Fig. ). All specimen showed atypical lymphocytes infiltrating the small intestinal mucosa demonstrating intraepithelial lymphocytosis. Immunohistochemical staining showed that infiltrated lymphocytes were positive for CD3, CD7, and CD56, but negative for CD4, CD5, and CD8. EBER-ISH was negative (Fig. ). Although IHC represent CD8 was negative in the biopsy (finally positive in the resected tissue), we diagnosed our case was MEITL. PET-CT showed abnormal uptake in the irregular wall thickening of the small intestine and the mesenteric lymph nodes (Fig. ). Diffuse hyperaccumulation of the ribs, spine and pelvic bone (SUVmax: 8.30) was also observed, but there were no findings in bone marrow aspiration. The patient was diagnosed as MEITL in Lugano stage IV and started on a chemotherapy regimen of EPOCH (etoposide, prednisolone, oncovin, cyclophosphamide, hydroxydaunorubicin). She has been on chemotherapy for about 6 months and is still alive. |
A 57-year-old woman had presented with Raynaud's phenomenon and fever of unknown etiology at the age of 48 years. Laboratory analysis showed positive anti-nuclear autoantibody and renal insufficiency with proteinuria (1.33 g/g Cr). The titer of anti-double-stranded DNA autoantibody was slightly elevated (3.1 IU/mL). She was diagnosed with SLE in accordance with the Systemic Lupus International Collaborating Clinics criteria []. The patient's first renal biopsy was undertaken at this time. Examination of the biopsy specimen led to a diagnosis of class V LN in accordance with the World Health Organization classification []. According to this diagnosis, she was treated with oral prednisolone, and tacrolimus was added at the age of 49 years. These treatments were successful, and the urine protein level decreased remarkably 4 years after treatment was started (to around 0.3–0.4 g/g Cr). At the age of 53 years, she was treated with dose-reduced tacrolimus because the effectiveness of these treatments had been confirmed. Despite the slow improvement in her renal function, the severity of her proteinuria gradually increased during the 4 years since the first biopsy. We suspected recurrence, and she therefore underwent a second biopsy at the age of 54 years. This repeat biopsy also revealed class V LN. Based on these findings, mycophenolate mofetil at 1,250 mg/day was added to the treatment regimen.\nAt the age of 57 years, laboratory studies revealed low SLE activity with a normal complete blood count, normal complement protein levels, and an anti-double-stranded DNA antibody titer of 5.8 IU/mL; however, proteinuria was present (>2 g/g Cr) (Table ). Therefore, she underwent a third renal biopsy at the age of 57 years. At this time, the patient's clinical course and immunological investigation indicated no progression of SLE. Because the pathological findings indicated negative conversion of IgG, we considered that the activity of LN had been lost. These pathological results could explain the decreased SLE activity, and the class V LN was presumed to have resolved.\nThe patient was subsequently treated with antihypertensive drugs with a focus on angiotensin II receptor antagonists. Following treatment, her proteinuria decreased to 0.5 g/g Cr.\nThe patient's first renal biopsy was performed at the age of 48 years. Histopathological examination using LM revealed several foamy formations and a generalized diffuse thickening of the GBM, which manifested as prominent spikes on PAM silver staining (Fig. ). On IF staining, coarsely granular deposits of IgG, C3, and C1q were evident in the capillary walls (Fig. ). TEM revealed abundant subepithelial deposits lining all capillary loops (Fig. ). The patient was diagnosed with LN class V according to the International Society of Nephrology/Renal Pathology Society classification.\nThe second biopsy at the age of 54 years revealed reduced spike formation and a bubbly appearance (stippling) under LM examination (Fig. ). IF staining showed similar findings; coarsely granular deposits of IgG, C3, and C1q were evident in the capillary basement membrane (Fig. ). On TEM, smaller electron-dense deposits than in the first renal biopsy suggested a resorptive process (Fig. ). A well-developed GBM reaction surrounded the deposits with overlying foot process effacement. These findings also indicated type V LN.\nThe third biopsy at the age of 57 years revealed advanced glomerulosclerosis (5/25 glomeruli), and PAM silver staining exhibited a primarily bubbly appearance and dome patterns; the spikes had almost disappeared on LM examination (Fig. ). Conversely, the IF findings showed a scattered distribution of the IgG deposits with negative C3 and C1q (Fig. ). TEM also revealed a marked decrease in the electron density of the deposits that had been clearly seen in the previous two biopsies. Instead, GBM thickening and wrinkling were seen (Fig. ). We doubted that the results of TEM and IF therefore differed from those of LM. Another remarkable finding on LM was arteriolar hyalinosis, which could be explained as arteriolopathy caused by calcineurin inhibitors. No evidence of calcineurin inhibitor toxicity such as striped interstitial fibrosis or tubular atrophy was observed. Tubular and interstitial lesions were attributed to the effect of renal sclerosis because of hypertension. The increase in urinary protein excretion could be explained by severe arterial sclerosis and calcineurin inhibitor-induced arteriolopathy rather than exacerbation of LN.\nC4d is described as a byproduct of activation of the classical and lectin pathways. Because C4d acts as a positive marker for an immune complex-mediated mechanism in glomerular nephritis, C4d staining can be helpful in revealing immune complex deposition []. Unfortunately, we could not examine the C4d properties of the deposits using frozen sections because of a lack of additional tissue remaining in the block. Therefore, to confirm that LN was not the main cause of the clinical proteinuria, we investigated the GBM using a different method.\nFor further evaluation, we observed the GBM in all three biopsy specimens using LV-SEM (Hitachi Tabletop microscope TM4000; Hitachi High-Technologies Corp., Tokyo, Japan). In the first renal biopsy at the age of 48 years, LV-SEM of glomeruli retrieved from formalin-fixed paraffin-embedded tissue (PAM stain) revealed extensive and numerous subepithelial holes where deposits were thought to have been present. Additionally, well-developed GBM material formed spikes around the holes (Fig. ). However, these holes were not found on the glomerular capillary luminal side (Fig. ). This finding corresponded to Ehrenreich-Churg stage II membranous nephropathy (MN). The second renal biopsy at the age of 54 years showed a well-developed GBM reaction surrounding the holes where deposits might have been present; this finding was equivalent to Ehrenreich-Churg stage III MN (Fig. ). Epithelium had formed and covered holes found in the first renal biopsy tissue, and it was difficult to see holes when looking down from the subepithelial side (Fig. ). The GBM of the glomerular capillary lumina was almost covered by basement membrane material, and holes were still only partially open (Fig. ). The third renal biopsy at the age of 57 years exhibited epithelium covered by newly formed GBM material, with openings in the GBM inward toward the glomerular capillary lumen (Fig. ). We speculated that the holes in the glomerular capillary luminal side might emerge when immune complex deposits in the GBM wash out.\nIn studying the third renal biopsy specimen, we also drew a comparison between the IF findings of the scattered distribution of the deposits and the LV-SEM findings. We stained frozen sections for IF with PAM and examined them with LV-SEM. We compared and observed the same glomeruli (Fig. ). No IgG staining was confirmed using IF, which suggested that no deposits were present in the GBM (Fig. ). However, many cavities were confirmed using LV-SEM (FIG. ). Therefore, it was considered that no deposit was present in the many holes, and it was presumed that washout of the immune complex deposits occurred in the membranous LN. Overall, further observation of the GBM with LV-SEM confirmed resolution of class V LN. This case was similar to stage IV MN according to the Ehrenreich-Churg staging criteria.\nA case report by Nonaka et al. [] described the conventional TEM assessment of subepithelial deposits in a patient with mild membranous LN. However, few cases of LN evaluated using LV-SEM in which the loss of immune complex deposits was discovered have been reported. Clinicians emphasize IgG deposition in the diagnosis of LN. Many clinicians tend to consider that LN is highly unlikely if IgG is negative using IF examination. In the present case, however, the diagnosis of LN was confirmed in the first and second renal biopsies.\nThis is our first experience of a case in which the pathological findings were presumed to indicate a state of resolution of class V LN, and we thought that this was a highly contradictory finding. We had doubts regarding whether the histopathological findings of LN disappear (as in common MN) as the disease activity of SLE decreases. |
A 62-year-old Caucasian woman with a history of stroke, epilepsy, and peptic ulcer disease presented to our emergency department (ED) for increasing swelling and erythema over her left foot despite 7 days of oral antibiotic therapy for cellulitis. She denied fever, chills, and respiratory or gastrointestinal symptoms. She had no family history of cardiac diseases, nor did she have any previous cardiac workup or echocardiograms. She was an active smoker with a 50-pack year smoking history and denied alcohol or drug use. Physical examination upon admission was pertinent for erythema, swelling, and tenderness in the left lower extremity. Neurologic examination was intact except for left-sided hemiparesis from a previous stroke. Laboratory tests were notable for lactate of 2.5 mmol/L. Her serum creatinine increased from 0.6 to 0.92 mg/dL within 24 hours upon admission, consistent with a diagnosis of acute kidney injury. She was hospitalized under the diagnosis of cellulitis complicating sepsis with end-organ dysfunction and started on intravenous vancomycin 1000 mg daily.\nShe was clinically stable until the third day of hospitalization, when she began to have intermittent episodes of hypoxia with a measured oxygen saturation of 88%, along with substernal chest discomfort. Physical examination was pertinent for diffuse wheezing in all lung fields which was alleviated after receiving nebulized albuterol. The following day, hypotension was noted, with a systolic blood pressure of 75 mmHg that resolved after fluid resuscitation. Her electrocardiogram (ECG) at the time showed sinus tachycardia. Serial troponin I levels were within normal limits. Computed tomography angiogram of the chest was negative for pulmonary embolism. Echocardiogram revealed an ejection fraction of 25%, left ventricular diastolic dimension of 4.6 cm, and multiple segmental wall motion abnormalities in the basal-to-mid anteroseptum along with basal-to-mid anterior, apical anterior, and apical septum.\nRepeat ECG 8 hours after the initial one was remarkable for sinus arrhythmia with deep symmetric T-wave inversions in leads V1–V4, consistent with Wellens syndrome (Fig. ). Emergency cardiac catheterization revealed patent coronary arteries without obstructive coronary artery disease (CAD) (Fig. ). Following her procedure, she was admitted to a cardiovascular intensive care unit due to alternating episodes of sinus bradycardia and tachycardia accompanied by hypotension which resolved spontaneously without medical management. Her chest pain resolved after day 6 of cardiac catheterization. After 17 days of hospitalization, she was discharged with metoprolol extended-release 25 mg daily, atorvastatin 80 mg daily, and furosemide 20 mg daily. An ECG prior to discharge showed normal sinus rhythm without T-wave abnormalities (Fig. ). An appointment was made to follow up with our cardiology clinic and a repeat echocardiogram was scheduled. However, she was lost to follow-up, and further attempts to reach the patient by phone were unsuccessful. |
A 78 year old male, RAN, from Bangalore, India, presented with a pigmented lesion over left chest wall associated with itching and burning sensation since 4 months, gradually increasing in size. Local examination showed pigmented macular lesion involving nipple and areola of left breast. No lymphadenopathy detected. No similar lesion found elsewhere in the body. No past history of exposure to radiation, arsenic or tar. No past history of burns, surgery, trauma, disease of nipple or skin cancer. No family history of BCC or skin cancer. Patient blood group was B positive. A provisional clinical diagnosis of melanoma was made. Mammography and ultrasound findings were not contributory.\nPatient underwent surgical three dimensional excision along with nipple and areola with one cm margin and primary closure. The specimen was subjected to histopathological examination. Gross specimen consisted of elliptical skin with subcutis measuring 7 × 3.5 × 2 cms with nipple and areola. Pigmented lesion over nipple and areola measured 1 × 0.5 cms and showed ulceration. Cut section over pigmented lesion showed grey white to grey black areas. The tissue bits were processed by routine processing method using increasing grades isopropyl alcohol as dehydrating agent, xylene as clearing agent, embedded in paraffin wax and tissue blocks were prepared with paraffin wax. Tissue sections were taken from paraffin blocks, which were dewaxed by xylene, dehydrated with isopropyl alcohol and stained with hematoxylin and eosin stain by routine conventional method. Microscopy showed epidermis and dermis. Epidermis showed proliferating basaloid cells, extending into dermis. The tumour cells were round to oval with vesicular nuclei and scanty cytoplasm with peripheral pallisading arrangement. The tumour cells were also arranged as interconnecting cords in between myxoid matrix. Focal areas showed melanin pigment in tumour cells. Stroma showed infiltration by chronic inflammatory cells and melanophages (Fig. and Fig. ). Foreign body giant cell reaction was seen. The resected surgical margins were free from the tumour. Immunohistochemistry of tissue sections were negative for HMB45 (Fig. ) and S100 (Fig. ) and positive for pankeratin. A final histopathological diagnosis of Pigmented Basal cell carcinoma of nipple and areola was made. Patient was followed up for one year, no recurrence or metastasis noted. |
An 11-day-old male infant presented for evaluation of direct (conjugated) hyperbilirubinemia. His prenatal studies were unremarkable; he was born at 38 weeks' gestation via Cesarean section due to breech presentation. The immediate postnatal course was pertinent for neonatal jaundice. A follow-up evaluation of serum bilirubin revealed a transition towards direct (conjugated) hyperbilirubinemia prompting referral to the gastroenterologist for further evaluation. The baby's parents noted his stools had become pale. His physical exam was remarkable for jaundice and hepatomegaly. Serum bilirubin was 4.7 mg/dL with a direct fraction of 3.2 mg/dL, and gamma glutamyl transferase was elevated to 600 U/L. Hematologic and coagulation studies were normal. Laboratory evaluation for metabolic causes of jaundice, including alpha-1-antitrypsin deficiency, cystic fibrosis, viral hepatitis, and glycogen storage disease, was performed, and while awaiting these results, an evaluation for BA and other surgical causes of conjugated hyperbilirubinemia was concurrently initiated. An abdominal ultrasound had no evidence of choledochal cyst and demonstrated the presence of a gallbladder but was equivocal for presence of the common bile duct (). However, presence or absence of bile ducts on US does not provide conclusive evidence of BA as ductal structures seen on US may represent obliterated remnants of the biliary tree. A hepatobiliary iminodiacetic acid (HIDA) scan was performed to assess for biliary patency, and this failed to demonstrate excretion of the radioactive tracer into the duodenum (). Percutaneous liver biopsy could not be obtained due to technical limitations.\nGiven this convincing clinical picture specifically in conjunction with an abnormal HIDA scan, at 3 weeks of age, the patient underwent cholangiogram to evaluate for BA. Intraoperatively, only a hydropic gallbladder was identified consistent with nonpatency of at least part of the biliary tree. Although the subsequent cholangiogram demonstrated both the cystic and common bile ducts, the hepatic ducts were absent, suggesting that this proximal component of the biliary tree was atretic. Even with distal occlusion of the common bile duct and application of a significant amount of pressure instilling contrast in an attempt to distend and visualize a potentially small common hepatic duct, none was seen proving obstruction of the proximal biliary tree. While this is not the most typical finding associated with BA, patency of the gallbladder, cystic duct, and common bile duct with fibrosis of the hepatic ducts and porta can be seen []. While parts of the biliary system were patent, communication between the porta hepatitis and duodenum was absent consistent with BA; furthermore, dissection revealed the characteristic fibrosis of the hilar plate associated with BA. Thus, with a confirmed diagnosis of BA, portoenterostomy was performed without complication. Interestingly, during the Kasai reconstruction, the results of the serum alpha-1-antitrypsin analysis returned at 36 mg/dL, positive for alpha-1-antitrypsin disease. Liver biopsy routinely obtained intraoperatively ultimately confirmed both diagnoses. Histopathology demonstrated bile duct proliferation (), cholestasis (), chronic inflammation, and periportal fibrosis without bridging, consistent with the diagnosis of BA; additionally, hepatocytes with PAS-positive, diastase-resistant globules () were seen supporting the additional diagnosis of A1AT. Subsequent genotypic evaluation showed the PiZZ mutation, the most severe form of the disease. The patient recovered well postoperatively, and successful biliary drainage was achieved with his bilirubin and transaminases normalizing.\nOver the next several years, the patient has continued to do well. Between 1 and 2 years of age, he had 3 very mild episodes of cholangitis which all resolved with antibiotics. The patient has not had any additional hospitalizations for cholangitis since that time and is now 8 years old. He has normal growth, near-normal liver function tests, and normal bilirubin, with normal coagulation and hematological parameters (direct bilirubin 0.1 mg/dL, AST 35 U/L, ALT 55 U/L, GGT 40 U/L, PTT 34, PT 11.7, PLT 310, and WBC 7.9). A recent abdominal ultrasound was unremarkable with normal hepatic echogenicity, without intrahepatic ductal dilatation, with normal spleen size, and with normal portal vein flow. An EGD performed in June 2016 was normal without evidence of varices. The patient is evaluated at regular intervals by pediatric hepatology and pulmonology. To date, there are no clinical signs of portal hypertension or lung disease. |
A 44-year-old female was admitted to our hospital due to epigastric pain with a duration of 6 months. There was no obvious cause of the paroxysmal dull abdominal pain when the pain was intense, radiating to the back. There was no history of loss of appetite, postprandial vomiting or gastrointestinal bleeding. Proton pump inhibitors were started but did not relieve the symptoms. Physical examination and her routine laboratory investigations were unremarkable. Computed tomography (CT) identified a 5.8 * 3.9 cm epigastric mass that appeared to be a heterogeneous cystic and solid submucosal tumor arising from the thick posterior wall of the antrum proximal to the pylorus (Fig. a). Enhanced CT displayed irregular mixed cystic and solid lesions with thick walls and intracystic fluid. In the arterial phase, the solid part was unevenly enhanced, and the thick wall of cystic cavity was obviously enhanced until the venous phase (Fig. b, c). Esophagogastroduodenoscopy showed a lesion elevated from the submucosa that was located from the posterior wall of the gastric antrum to the gastric angle with normal overlying mucosa (Fig. a). Endoscopic ultrasound (EUS) noted a smooth 5.5 cm + 3.8 cm mixed cystic and solid anechoic lesion in the submucosal layer, partially in the muscularis propria and serosa (Fig. b); the cystic wall became thicker when approaching the pylorus (Fig. c), with features suggestive of lymphangioma. Because of the size, the unknown pathology, and its involvement of the antrum whereby an attempt at local resection would have markedly narrowed the antrum, a decision was made to perform a distal gastrectomy. Clear transparent fluid was found in this cystic mass when opened in the pathology laboratory.\nHistopathologic examination of the resected mass showed aberrant pancreatic tissues, including numerous acini, few ducts and islet cells involving the submucosa, muscularis propria and serosa; furthermore, the cysts were lined with a single layer of short columnar or cubic serous epithelia with clear cytoplasm, and all of these histological features supported a final diagnosis of EP with serous oligocystic adenoma (SOA) (Fig. a–i). The postoperative course was uneventful, and she has been asymptomatic with no recurrence for 18 months to date. |
A 68-year-old male patient was admitted to our hospital due to a severe car accident and was diagnosed as having a severe traumatic brain injury.\nThe patient was admitted to our hospital due to a severe car accident 3 h ago. The clinical neurological examination revealed a deep coma. The diagnosis was a severe traumatic brain injury.\nThe patient did not have a specific history of past illness.\nThe patient did not have a specific personal and family history.\nWhen admitted to the hospital, the patient’s temperature was 37.2 °C, heart rate was 98 bpm, respiratory rate was 18 breaths per minute, blood pressure was 138/78 mmHg, and oxygen saturation in room air was 98%. The clinical neurological examination revealed a deep coma, with a Glasgow coma scale score of 3/15.\nOn hospital day 18, laboratory tests showed 105 mg/L of C-reactive protein (CRP), and the white blood cell count (WBC) was 10.37 × 109/L. Additionally, his renal and liver function tests were normal. The cerebral spinal fluid (CSF) obtained through lumbar puncture showed increased WBC, while the glucose level was 0.8 mmol/L, and the total protein was 4.49 g/L. Three sets of sputum, blood, and CSF cultures were obtained, but no bacterial growth was detected in any of the three samples. On hospital day 21, analysis of the sputum and CSF cultures again demonstrated the absence of any bacterial growth. On hospital day 26, the patient's CSF culture tested positive for A. baumannii that was susceptible only to tigecycline, though susceptibility to polymyxin was not tested (Table ). The same strain of XDR A. baumannii was persistently isolated from the CSF until hospital day 35. The results of blood and CSF analysis are shown in Table .\nOn hospital day 18, head computed tomography (CT) showed normal postoperative changes after the operations (Figure ). On hospital day 24, head CT indicated ventricular empyema (Figure ). On hospital day 29, no ventricular pus was detected on the head CT. |
A 9-year-old girl weighing 25 kg, presented with a huge swelling on the left side of the face causing gross facial asymmetry. The swelling had increased to present size over 5 years as in .\nExamination revealed that the swelling is involving the left maxillary and mandibular area. Left half of the nose was also involved along with the deviation of upper lip. Preoperative assessment was carried out thoroughly with routine investigations, child was otherwise healthy with no comorbid condition. Mallampati classification was not possible due to extreme deviation [], thyromental distance 6 cm, adequate but deviated mouth opening and upper lip bite test — Grade III.[] Nasal patency check was also done and found that right nostril had much better flow.\nThe child's parents were counseled regarding the nature of difficult airway and its management options like fiberoptic intubation and tracheostomy and informed consent was taken. The ENT surgeons were also asked to be prepared for emergency tracheostomy.\nThe girl was uncooperative from the very beginning. With much counseling and in the presence of her parents, she became ready for the intravenous cannulation in the right arm where EMLA cream had already applied on the dorsum of hand. In the preoperative area, two drops of xylometazoline was instilled in each nostril and she was nebulized with lignocaine 4% (2.5 ml) for 15 min. She was made to gargle with lignocaine viscous 2% for 2 min and her oropharynx and nasopharynx were sprayed using lignocaine 10%. Just before going to operation theatre she became very anxious, so under supervision and saturation monitoring, she was slowly administered a total dose of intravenous midazolam 1.25 mg in the holding area.\nIn the operation theatre electrocardiography, pulse oximeter, and blood pressure monitors applied and intravenous Ringer's lactate drip started. Intravenous glycopyrrolate 0.2 mg was given to reduce secretions and ondansetron 2.5 mg as postoperative nausea and vomiting prophylaxis. Although awake fiberoptic intubation would have been ideal, in a frightened child it was out of question. Initially she was preoxygenated using adult mask size 5 with 100% oxygen for 3 min to increase her oxygen reservoir and then inhalational induction was started with sevoflurane in 100% oxygen. Facial asymmetry in this child was such that achieving a tight seal using mask was very difficult even with the adult size, so after a gradual and gentle dilatation a lubricated nasopharyngeal airway (NPA) size 5 was put in right nostril and the breathing circuit was attached to it through endotracheal tube (ETT) connector and adequate spontaneous ventilation assured. Concentration of Sevoflurane gradually increased to 6% while preserving spontaneous breathing. Fiber optic bronchoscope (FOB) was then passed through the mouth to visualize vocal cords and advanced into trachea to locate carina. Child did not show any reflex response to the insertion of bronchoscope because of well anesthetized airway with topical local anesthetics (LA). The cuffed ETT size 6 was advanced over bronchoscope in the trachea and its position above the carina was confirmed. The ETT was then connected to anesthetic breathing circuit and the correct placement of tube in the trachea was confirmed by end tidal carbon dioxide and bilateral chest auscultation. Adequate oropharangeal packing done to avoid trickling of blood in trachea. Vecuronium 2.5 mg was used for muscle relaxation and intravenous fentanyl 50 mcg along with intravenous paracetamol 300 mg were given for analgesia. Anesthesia was maintained with isoflurane 1% in 40:60 oxygen and air. At the end of surgery, oropharyngeal suctioning was done, throat pack removed and residual neuromuscular blockade was reversed with neostigmine 1.5 mg and 0.2 mg glycopyrrolate. The child was allowed to regain complete consciousness and reflexes, and then was extubated. She was shifted to recovery room and her postoperative vitals were within normal limits. |
The patient was a 28-year-old woman (gravid 1, para 1) without a significant medical or surgical history. Her parents were alive and, according to the patient, had no significant medical history. At 35 gestational weeks, a tumor measuring approximately 5 cm was detected behind the uterine cervix on transvaginal ultrasonography (). The mass seemed to be a uterine myoma and follow-up was planned on this basis. At 38 gestational weeks, an emergency Cesarean section was performed because the tumor had caused cephalopelvic disproportion. During the operation, the uterus and both ovaries appeared normal, but the rectum seemed swollen.\nOn the basis of postoperative magnetic resonance imaging (MRI), the tumor appeared to be a rectal cancer that had spread to the lymph nodes near the inferior mesenteric artery and vein (Figures , , and ). Further, colonoscopy revealed the tumor to be an ulcerated rectal mass 20 cm from the anal region, while histopathological examination of the biopsy tissue indicated the tumor to be an adenocarcinoma of the rectum (Figures and ). No metastatic lesions were detected except for metastases to the lymph nodes on computed tomography or positron emission tomography, and no abnormalities in the upper part of the gastrointestinal tract were detected on endoscopy. The tumor markers carcinoembryonic antigen, carbohydrate antigen 19-9, and carbohydrate antigen 125 were elevated to 32.9 ng/mL, 353.6 U/mL, and 62.7 U/mL, respectively. Lower anterior resection with lateral pelvic lymphadenectomy was performed after chemoradiation with S-1 (TS-1, an oral fluoropyrimidine), and the tumor was diagnosed as pStage IIA (pT3 pN0 M0) localized advanced rectal cancer (Figures and ).\nAs the patient had developed colon cancer at a young age, we reconfirmed her family medical history. Although her father was still alive and well, he had undergone surgery for colon cancer (adenocarcinoma) and a brain tumor when aged 34 and 55 years, respectively. Her grandfather and grandmother had both died of cancer (the organs affected were unclear). It became apparent that she had misunderstood the term “family history” during the earlier interview. Therefore, tests for MSI were performed during the operation. The patient fulfilled the criteria of the Bethesda guidelines for testing the colorectal tumor for MSI []. Using the biopsied tissue, we assessed 5 markers advocated by the National Cancer Institute for measuring MSI []. Of these 5 markers, BAT25, BAT26, D2S123, and D17S250 were positive, while D5S346 was negative, indicating that the tumor was MSI-high.\nAlthough this tumor may have resulted from Lynch syndrome given the patient's family history, she did not choose to undergo germline testing for mismatch repair (MMR) gene alterations after genetic counseling. |
A 76-year-old man presented with a recurrent right inguinal hernia after an open repair with a plug and patch had been performed at a secondary hospital 4 years previously.\nShortly after his admission to our hospital, TAPP was performed. During the procedure, we found that the plug was protruding from Hesselbach triangle into the abdominal cavity. A defect was identified lateral to the inferior epigastric vessels, and a right recurrent L2 hernia (European Hernia Society groin hernia classification system []) was diagnosed. The fusiform incision of the peritoneum was continued superior to the edge of the plug and down to the anterior superior iliac spine. Part of the plug was removed to create a bed for the mesh. The indirect hernia sac was completely isolated from the cord structures. A 10- × 15-cm piece of lightweight polypropylene mesh (TransEasy Medical Tech. Co., Ltd., Beijing, China) was implanted and fixed to the iliopubic tract, rectus muscle, and surface of the remaining plug using ProTack (Medtronic, Minneapolis, MN, USA). The peritoneal flap was closed with a running suture.\nDuring the following 2 weeks, the patient experienced intermittent right lower abdominal pain and distension without nausea or vomiting. After conservative treatment including nasogastric decompression, lavage, and intravenous fluids, his symptoms were slightly relieved. On postoperative day 15, however, his right lower abdominal pain gradually worsened. Computed tomography (CT) scans of the abdomen and pelvis revealed air-fluid levels, small bowel distension, and exudates in the right groin area.\nThe patient underwent emergency laparoscopy. Pneumoperitoneum was created by insertion of a Veress needle into the left upper quadrant, 2 to 3 cm below the costal margin and away from the prior trocar sites. Additional ports were placed under direct vision. Inspection of the peritoneal cavity showed that the right peritoneum was disrupted and approximately 20 cm of small bowel had herniated through the defect. The small bowel loops were incarcerated in the preperitoneal space and adhered to the mesh. Because we suspected adhesions between the bowel and the tacks, conversion to open surgery was performed. An 8-cm incision was made in the right inguinal region. After removing part of the mesh, the abdominal cavity was entered. The bowel was uneventfully detached from the mesh and reduced into the abdominal cavity. The peritoneal flap was closed with an absorbable running suture, and a subcutaneous drain was placed. After tolerating a regular diet and demonstrating normal bowel function, the patient was discharged home the following week. He developed no further complications. |
A 33-year-old female presented to the oral medicine service with a chief complaint of severe gingival pain and lesions for 1 month. The patient was a nonsmoker and had no significant medical history or known allergies.\nThe clinical examination revealed erythematous and ulcerative gingiva localized at the buccal side from teeth 15 to 17 and 24 to 27 (Federation Dentaire Internationale tooth numbering system), and oral hygiene was good (Fig. a, b). X-ray examination showed marginal alveolar bone loss in the involved teeth, and periodontal resorption of alveolar bone in teeth 15, 16, 25, and 26 was obvious (Fig. c, d). The laboratory tests performed included a complete blood count, autoantibody detection, syphilis serology and anti-HIV antibody detection, and the results were all normal. The diagnosis of necrotizing ulcerative periodontitis (NUP) was made.\nTen volumes of diluted hydrogen peroxide were administered to the necrotic lesions with a sterile cotton roll in conjunction with topical administration of metronidazole every other day. The patient was prescribed an oral mouth rinse (0.2% chlorhexidine twice daily for 5 days). Five days later, the clinical examination showed an improvement in symptoms, with resolution of the ulcerated pseudomembranous area, and then scaling and root planing with local anesthesia was performed. The patient showed obvious relief of pain. However, 10 days later, the condition relapsed. In addition to the therapy above, the patient received 500 mg of amoxicillin twice per day for 5 days, but the lesions did not completely heal, and she made no further visits.\nFive months later, the patient presented to the department with a complaint of aggravated pain of the gingiva and movable teeth. The clinical examination revealed ulcerative and obviously recessed gingiva (Fig. e, f), and teeth 15, 16, 25, and 26 had different degrees of mobility. To further confirm the diagnosis, after obtaining informed consent from the patient, a biopsy was taken from the ulcerative gingiva. Microbial samples were taken from the subgingival plaque of teeth in the ulcerative (NUP)/not-yet-affected (NUP-n) region. NUP samples were collected from teeth 16 and 26, and NUP-n samples were collected from 18 and 28. Bacterial DNA was extracted using the CTAB/SDS method. 16S rRNA genes of V3-V4 region were amplified with the barcode. All PCRs were performed with Phusion High-Fidelity PCR Master Mix (New England Biolabs). After purification of the PCR products, sequencing libraries were generated using a TruSeq DNA PCR-free Sample Preparation Kit (IL) following the manufacturer's recommendations, and index codes were added. The library was sequenced on an IlluminaHiSeq2500 platform, and 250-bp paired-end reads were generated. Sequences analysis was performed using Uparse software (Uparse v 7.0.1001). For each representative sequence, the Silva Database () was used based on the RDP classifier algorithm to annotate taxonomic information.\nHematoxylin and eosin (H&E)-stained tissue showed chronic inflammatory cell infiltration in the tissue, and no cancer cells were observed. Through the 16S rRNA sequencing analysis, a total of 396 and 222 operational taxonomic units (OTUs) were found in the NUP and NUP-n samples, respectively (Fig. a), and they were assigned at the phylum and genus taxonomic level (19 bacterial phyla, 185 genera), providing a comparative review of the bacterial diversity and composition among them (Fig. b, Table ).\nIn the NUP sample, Proteobacteria (29.5%) and Actinobacteria (28.5%) predominated, followed by Bacteroidetes (13.7%) and Fusobacteria (13.5%). In the NUP-n sample, Proteobacteria was the most prevalent phylum (42.6%), followed by Fusobacteria (20.3%). The relative abundance of each genus was compared between the groups (Table ). Leptotrichia (phylum Fusobacteria) was the most prevalent genus in the NUP-n samples, and its abundance decreased in the NUP sample, along with that of Comamonas spp., Lautropia spp., Streptococcus, Fusobacterium and Actinomyces. Furthermore, the abundances of Neisseria spp., Corynebacterium spp. and Prevotella spp. were obviously increased with the development of NUP, and Neisseria was the most prevalent genus at the NUP site.\nAfter clinical assessment, tooth 16 was extracted, and minocycline hydrochloride was locally administered in the involved tooth pocket every day. At the same time, the patient received 100 mg of hydrochloric acid doxycycline twice per day. Remarkable improvement was obtained after 3 days, the size and congestion of the necrotized gingiva decreased, and the patient reported being in less pain. The lesion healed after 1 week, and the gingiva had epithelialized completely and had an almost normal appearance. The follow-up examination 1 year later showed recovery with no mobility of teeth or recurrent episodes of pain despite the exposed root surfaces being still visible (Fig. g, h).\nWritten informed consent was obtained from the patient for the publication of this case report and its accompanying images. |
A three-year-old boy presented with complaints of not achieving developmental milestones as per age and failure to gain weight. The child was first brought to medical attention at the age of nine months when parents felt that he was not developing like other children his age. There were also some concerns of neuro-regression according to parents as the child had lost the previously acquired milestone (achieved late, around one and half years of age) of sitting without support. At the time of presentation (three years of age), the child could not sit or stand independently and was completely dependent on the caregiver for all activities of daily living. There was no history of seizures. Other associated problems were difficulty in feeding the child, as he had frequent vomiting and suffered from chronic constipation. Birth history revealed that this child was born of a non-consanguineous marriage, born full-term by vaginal delivery with face presentation, with a birth weight of 2.75 kg. There were no ante-natal or peri-natal issues and the baby didn’t require neonatal intensive care unit (NICU) admission. There was no family history of any neurological illness and the patient had an older, six-year-old, female sibling who was well and normal. On examination, the child looked severely malnourished with anthropometry showing a weight of 5.7 kg and a head circumference of 42 cm (Figure ). Previous clinical records revealed that the weight of the child was 4.6 kg at nine months and 6.1 kg at 22 months with the head circumference (HC) being 39 cm at nine months and 40.5 cm at 11 months. All values of weight and HC were below the 3 Z-score, showing severe failure to thrive and microcephaly.\nThe child had dysmorphic features in the form of triangular facies, prominent eyebrows and eyelashes, bulbous nose tip, thin vermilion of the upper lip, prominent ears, and his mouth was always open (Figures -).\nNo fasciculations were noted in the tongue. There was axial hypotonia with partial head lag, appendicular hypertonia, and spasticity of limbs. Deep tendon reflexes were brisk, the plantars were bilateral extensor, and the range of motion of the hips and knees was limited. The child’s functional status was classified as Gross Motor Function Classification System (GMFCS) level V. The fundus was normal. Extraocular movements were full, pupils were equally reactive, and no facial asymmetry was noted. Basic blood tests including complete blood count, liver function test, renal function test, thyroid profile, calcium, plasma ammonia, and lactate were normal. Tests for inborn errors of metabolism in the form of blood tandem mass spectrometry (TMS) and urine gas chromatography-mass spectrometry (GCMS) were normal. MRI done at nine months of age showed hypomyelination of deep and subcortical white matter, including U fibers appearing hyperintense in T2WI and isointense in T1WI. The corpus callosum was thin (Figures -). Bilateral internal capsules showed normal myelination for age with normal signals in both T1WI and T2WI. Cortical sulci, including Sylvian fissures, was diffusely prominent with dilated extra-axial spaces suggesting cerebral atrophy (Figure ). One more finding that was noted was an extra-axial arachnoid cyst in the right anterior temporal region, which had a signal identical to cerebrospinal fluid (CSF) in all imaging sequences. Brainstem, cerebellum, and deep gray matter nuclei were normal.\nAs MRI was done at nine months of age, a repeat MRI was planned at the time of current consultation to look for interval change but parents were keen to go for the next step, which was the genetic test. A genetic test, in the form of clinical exome sequencing, was done, which showed a compound heterozygous mutation in the PYCR2 (pyrroline-5-carboxylate reductase 2) gene, a heterozygous missense variation in exon 4 (p.Arg119His), and another heterozygous start-loss variation in exon 1 (p.Met1). Hence, on combining the clinical phenotype with the genetic test result, a final diagnosis of PYCR2 gene-related hypomyelination and microcephaly syndrome (also known as hypomyelinating leukodystrophy 10) was established (Figure ). Parents were explained about the diagnosis, course, and progression of the disorder, as well as the poor outcome. The patient was given pharmacotherapy for spasticity, and physiotherapy and occupational therapy were recommended. In view of the progressive neurological condition, severe wasting, and feeding difficulties, a percutaneous endoscopic gastrostomy (PEG) tube feeding was recommended but parents were not keen on it. As genetic counseling was not available in our center, parents were advised to seek genetic counseling from another center. |
A 63-year-old man underwent MoM THA in another hospital with the AML-Plus stem, Pinnacle acetabular cup, and 36-mm diameter Ultamet metal head system (DePuy Orthopaedics, Warsaw, IN) for osteoarthritis of the left hip attributable to developmental dysplasia of the hip. His immediate postoperative course was uneventful. Five years later, he noticed slight pain in the left lower leg and thigh that gradually worsened. This progressed to acute swelling and redness on the left leg, so he visited the Department of Cardiovascular Medicine at our hospital. The attending physician suspected a deep vein thrombosis of the left leg and admitted the patient to hospital as an emergency. Venous ultrasonography of the left leg revealed no venous thrombosis but did show a cystic lesion extending along the iliopsoas tendon from the anterior aspect of the left hip to the intrapelvic region, so a referral was made to our department. At his initial consultation with us, the patient was 160 cm in height and weighed 60 kg (body mass index 23.4). On physical examination, the left thigh circumference was significantly increased compared with the contralateral side (42.2 cm versus 37.4 cm). Heat, redness, and swelling of the entire left leg were observed. There was no evidence of stem loosening, subsidence, or osteolysis around the stem and cup on plain radiography (). Contrast-enhanced computed tomography revealed a large cystic lesion extending from the anterior aspect of the left hip to the intrapelvic region and compressing the left femoral artery and vein (). Magnetic resonance imaging (MRI) also showed a well-defined cystic lesion (Figures and ). An axial view on MRI at the largest part of the intrapelvic cystic lesion revealed a well-circumscribed, soft tissue lesion measuring 55.7 × 41.8 mm. The mass was slightly hyperintense to skeletal muscle at the center and very hypointense at the periphery of the lesion on T1-weighted imaging. On T2-weighted imaging, the mass showed high signal intensity at the center with low intensity at the rim. The mass extended distally along the iliopsoas tendon to the hip joint. According to the magnetic resonance grading system for pseudotumors [], this patient was deemed to have moderate MoM disease. We performed percutaneous puncture of the cystic lesion under sonographic guidance and aspirated 30 mL of dark red fluid. There was no evidence of infection on bacterial culture of the aspirate and no laboratory findings suggestive of inflammation. Therefore, we made a diagnosis of pseudotumor associated with MoM THA.\nIn a salvage revision procedure, we resected the pseudotumor and changed the metal head and liner. First, we made an incision via an ilioinguinal approach and resected the pseudotumor enveloped in the iliac muscle (). The resected pseudotumor was covered by a thick granulomatous capsule (approximately 1 cm thick) containing dark red fluid. We then replaced the metal liner with a polyethylene liner and the metal head with a 28-mm ceramic head (DePuy Orthopaedics) via a posterolateral approach. Intraoperatively, there was no obvious black metal debris inside the joint or the pseudotumor. There was also no evidence of abnormal friction between the metal head and liner. However, corrosion of the head-neck junction with black metal debris was detected around the trunnion (). Intraoperative bacterial culture was negative. Histologic analysis showed no cellular components inside the tumor but numerous foamy macrophages and a lymphocytic infiltrate at the periphery. No metal particles were evident. The left leg swelling and redness improved immediately after surgery and the inflammatory changes were almost resolved at 3 weeks postoperatively (). At the most recent follow-up 3 years after surgery, the patient could walk unaided and was independent in activities of daily living, with no complications such as infection, dislocation of the hip, or recurrence of a pseudotumor. |
A 13-year-old boy presented with severe loss of vision in the right eye (RE) over the last month, not associated with penetrating injury or any ocular surgery. Best-corrected visual acuity (BCVA) was light perception in RE and 20/20 in the left eye (LE). RE showed relative afferent pupillary defect and vitreous cells. IOP of both eyes was 20 mmHg. The patient was diagnosed as Coats' disease with exudative retinal detachment (RD) in RE. There were no pathologic findings in LE. Over a period of 18 months, he developed neovascular glaucoma in RE with an IOP of 45 mmHg. His BCVA in LE was 20/20 and an IOP of 20 mmHg. The patient was treated with DLCP to superior and inferior half (120° each) of RE ciliary body. Twenty-five diode laser burns of 2000 ms duration and using a power of 2000 mW were applied.\nSix weeks after cyclophotocoagulation, he experienced photophobia and sudden deterioration of vision in his LE and mild pain in RE. BCVA in LE was 20/63 for distance and near vision was N18. IOP of RE was 21 and in LE 15 mmHg. Slit lamp examination revealed anterior chamber cells, flare and keratic precipitates in both eyes, and a dense cataract precluding fundal view in RE. Fundus examination of LE revealed disc hyperemia and yellow-white subretinal infiltrates that partly obscured choroidal vasculature []. Ultrasound B-scan of RE showed total RD with increased choroidal thickness, and LE showed shallow RD with increased retinochoroidal thickness. Ocular coherence tomography showed retinal elevation due to the accumulation of subretinal fluid in LE []. Fluorescein angiography of LE revealed multifocal punctate hyperfluorescent spots in the early venous phase which then continued to late leakage [].\nA diagnosis of SO was made, and the patient was treated with intravenous methylprednisolone (500 mg/day for 3 consecutive days) followed by oral prednisone. Over the next 20 days, intraocular inflammation in both the eyes reduced and visual acuity returned to 20/20 in the LE. Fundus examination revealed resolution of subretinal infiltrate and exudation. Although RE became phthisical, the patient had complaints of repeated pain and discomfort. The patient preferred removal of the phthisical eyeball for cosmetic reasons as well as the pain and discomfort. Enucleation with silicone ball implant was done after obtaining informed consent, and specimen was sent for histopathological examination. LE remained unremarkable with BCVA of 20/20.\nGross examination of vertical section of RE ball showed small whitish calcified areas with detached retina, vitreous hemorrhage, and thickened sclera posteriorly []. Microscopic examination under hematoxylin and eosin stain revealed corneal edema with neovascularization. The limbal area showed congestion with inflammatory cell infiltrate []. The anterior chamber was deep with angle closure at one end. Iris neovascularization with ectropion uvea was noted. Lens was partially cataractous with membranous structure in front of it. Ciliary body showed atrophic changes. There was exudative RD with fibrotic retinal structure. Retinal telangiectatic vessels with numerous cholesterol clefts in the exudation with focal osseous changes noted [–]. There was diffuse choroidal involvement with lymphocytic infiltration sparing the choriocapillaris []. Immunohistochemistry showed CD 20 (B-cell) and CD 3 (T-cell) positivity [ and ]. |
A 55-year-old Caucasian female patient had a dental implant placed into site 21 (FDI-Notation) 22 months previously. Prior to surgery, the central incisor and lateral incisor had been missing for more than 20 years, both being replaced with a single-pontic cantilever bridge from the then present upper right canine tooth (23). Tooth 23 had suffered root canal therapy and an apicectomy being the subject of multiple periods of chronic/acute infection. A preoperative CBCT investigation had been carried out. Subsequently, 23 was removed, bone augmentation was carried out, and an implant was placed in position 21. The patient reported profuse postoperative nasal bleeding. During the 6-month postoperative period, she had frequent episodes of nasal bleeding, pain, subnasal swelling, a sense of “blockage,” and “ethmoidal sinusitis.” She was prescribed multiple doses of antibiotics during these periods. With the persistence of her symptoms, the implant surgeon carried out further postsurgical radiographic investigations that included periapical radiographs and a CBCT examination at 5 months postoperatively: no causative diagnosis was determined. The implant was restored regardless of the continuing postoperative symptoms. The patient was subsequently referred to both ENT and Oral and Maxillofacial departments of her local hospitals—neither speciality could determine the cause of the symptoms.\nThe initial clinical and radiological examination by this author included a standard periapical and an occlusal film (see Figures , , and ). The original implant clinic was asked to supply the preoperative and postoperative CBCT scans for further analysis.\nTo establish the adjacent anatomy and any preexisting pathology, shows a lower axial slice at the level of the apex of the apicected tooth 22. Here, a distinct anomaly is seen and a fully differentiated canal is present between the nasopalatine canal/duct and the apicected region of tooth 23 (). shows the very distinctive multiple foramina in the nasal region.\nshows radiated views through the area of interest, showing that the implant is placed through the anterolateral wall of the nasopalatine canal/duct structure and the opening to the lateral aberration (). Multiple foramina are present through the nasal floor.\nImplantotomy was carried out under antibiotic cover and intravenous sedation. Following implantotomy and complete debridement (Figures , , , and ), Bio-Gide was placed apically and posteriorly in the conduit at the site of the multiple descending branches of canalis sinuosus to form a barrier. Bio-Gide was also placed over the contents of the nasopalatine canal. Xenograft granules (0.25–0.5 mm Bio-Oss, Geistlich Pharma, Wolhusen, Switzerland) were used to fully obturate the conduit and the surgical defect (Figures , , and ). A temporary adhesive bridge was fitted (). During follow-up, it was noted that nasal bleeding and sinusitis were arrested and the sensation of nasal “blockage” disappeared “immediately.” The remedial surgical site remains symptomless.\nPostimplantotomy CBCT (CS9000, Carestream, Paris, France.) imagery taken at 8 months after surgery determined the degree of osteogenesis and the gross morphology of the operative site (Figures and ). Figures – show sagittal images that are a progressive medial to lateral display of the well-rounded distal aspect of the former neurovascular canal. |
A 68-year-old man visited our emergency room due to recurrent syncope. He had experienced four episodes of syncope with dizziness and chest discomfort during the prior 2 months. The episodes were evoked when he was preparing his boat for sailing in early morning. On admission, his mentality was clear. Vital signs showed blood pressure (BP) of 120/80 mmHg, pulse rate of 60 beats/min, respiratory rate of 20 breaths/min and body temperature of 36.5℃. He had a 10-year history of diabetes mellitus with application of oral hypoglycemic agents. He had stopped smoking 40 years previously. He drank 1 bottle of soju per week. Physical examination, chest radiography and laboratory findings were unremarkable. The initial electrocardiogram (ECG) showed sinus rhythm with T inversion in the V5 and V6 leads. Transthoracic echocardiogram revealed left ventricular hypertrophy, mildly decreased ejection fraction, and hypokinetic left ventricular wall motion. Twenty four hour Holter monitoring showed normal sinus rhythm and infrequent premature ventricular complexes (PVCs). Coronary angiography revealed 70% stenosis at proximal left anterior descending artery (LAD) (). Stenosis persisted after intracoronary nitrates administration (). We planned medical treatment instead of coronary angioplasty. The tilt table test and brain magnetic resonance angiography were unremarkable. The patient was discharged and regarded as an unexplained syncope. After 4 days, he was readmitted because of severe dizziness and we performed 48-hour Holter monitoring. During his second admission, syncope occurred for about 3 minutes. Fortunately, he completely recovered without any injury. The Holter monitoring during the syncope episode revealed ST-segment elevation followed by PVCs (). Polymorphic ventricular tachycardia (VT) started with the PVCs () and degenerated into ventricular fibrillation (). We suspected that the ventricular arrhythmia resulted from transient myocardial ischemia by variant angina, because STsegment elevation was seen before VT and syncope occurred in the morning. A repeat coronary angiography was carried out for a spasm provocation test. Right coronary artery was negative in the provocation test. In contrast, after intracoronary ergonovine injection, nearly total occlusion of LAD developed (). There was no chest pain and no change of BP or ECG during the provocation test. Coronary vasospasm was rapidly relieved by intracoronary nitroglycerin. We speculate that it may have caused no changes of ECG during the provocation test. Intravascular ultrasonography revealed that minimum lumen area was 2.3 mm2 after intracoronary nitroglycerine injection. We performed percutaneous coronary intervention (PCI) at proximal LAD (). The patient was discharged with medications including calcium channel blockers. At present, he has been regularly followed in the outpatient clinic without symptoms. |
In 2009, a 64-year-old man was diagnosed with a PC based on prostate specific antigen (PSA) increase (117 ng/l). He had no relevant medical history except a tobacco-related obstructive broncho-pneumopathy; he did not describe any surgical history. Abdominal CT confirmed locally advanced PC with seminal vesicles and bladder invasion but without any evidence of lymph node or intra-abdominal anomaly (A). Biopsy showed a moderately differentiated Gleason 7 (4 + 3) score with perineural infiltration (A). Bone scan, thoracic CT and axial skeletal MRI did not show any secondary lesion (). No pelvic MRI was performed at this time due to the fact that bladder invasion was clearly demonstrated on CT scan and that local treatment was not proposed first. The tumor was thus classified as T4 N0 M0 based on these imaging modalities. Due to the high value of PSA and the high risk of occult metastatic lesions, we first started androgen deprivation therapy (ADT) (leuproreline) that rapidly decreased PSA value after 1 month (25 ng/l); PSA continued to decrease and reached a value of 7 ng/l after 12 months. At this time, the thoraco-abdominal CT showed a regression of the primary tumor and of the bladder infiltration (B). The pelvic MRI further did not show any any suspect lymph node (); bone scan did not demonstrate any suspect distant lesion, as well as axial skeletal MRI. Radiotherapy (78 Gy on prostate area including the bladder infiltration location) was then performed; lymph nodes were also involved in the irradiated area (46 Gy) due to the high PSA level and the important local infiltration. This treatment, combined with ADT, resulted in PSA normalization (<0.2 ng/l) 6 months later. Leuproreline was stopped in March 2012.\nIn 2014, PSA level raised progressively to 2.2 ng/ml with a PSA doubling time of 3 months. Bone scan and thoraco-abdominal CT did not reveal any suspect lesions; no modern imaging such as 68Ga PSMA-PET or whole-body MRI was done as it was not easily available. The very short PSA doubling time led us to start ADT (degarelix) that resulted in a rapid normalization of PSA after 3 months (<0.2 ng/l). PSA remained unchanged for 2 years but in 2016, it showed a rapid increase to 12 ng/l, reflecting development of castration resistance. Bone scan and thoraco-abdominal CT were considered as normal but 68Ga PSMA-PET showed five peritoneal infra-centimetric lesions without any other suspect lesions in bone or in lymph node. Based on 68Ga PSMA-PET imaging, peritoneal implants were retrospectively visualized on the synchronous abdominal CT () but not on the previous ones including the abdominal CT of the diagnosis. In order to exclude false positive lesion on 68Ga PSMA-PET, we decided to perform laparoscopic exploration that showed multiple suspect lesions in the peritoneal cavity; histology confirmed prostate adenocarcinoma without neuroendocrine, mucinous or small cell differentiation (B). Abiraterone acetate (1000 mg daily + prednisone 10 mg daily) was initiated and PSA level rapidly decreased to 0.4 ng/l in 3 months and to 0.01 ng/l after 6 months. Treatment was well tolerated without any toxicity. Peritoneal lesions disappeared on abdominal CT. Three years later the patient remains in radiological complete remission and with undetectable PSA. |
A 56-year-old woman was admitted to the hospital for psychosis, paranoia, hallucinations, and seizures. Two months before admission, she presented to her primary care physician with right upper extremity numbness and an MRI of the cervical spine that revealed degenerative disc disease. During the following weeks, she developed paranoia, psychosis, and hallucinations, leading to admission at a psychiatric facility. According to the evaluation and treatment of her psychiatric symptoms, the patient was transferred to a medical facility for further workup and to rule out organic causes.\nHer past medical history included insomnia treated with zolpidem, but no prior psychiatric disorder. Surgical history was notable for left knee arthroscopy. Her family history included Alzheimer's dementia in her father and a brain tumor in her mother. The patient was living independently and was working before admission. She was a former smoker who did not consume alcohol, marijuana, or other drugs.\nOn initial presentation to the medical facility, EEG demonstrated focal subclinical seizures originating from the left temporal region. Continuous EEG confirmed frequent seizures, and she was started on multiple anti-epileptic drugs (AEDs), including fosphenytoin, phenytoin, lacosamide, divalproex, and levetiracetam. Her seizures were refractory to medical therapy, and the patient required intubation for airway protection. Brain MRI demonstrated no acute intracranial findings, including no findings specific for encephalitis but incidentally revealed a small right superior frontoparietal paramedian meningioma. Infectious workup, toxicology, blood counts, and electrolytes were all within normal limits, and we could not identify a cause for her seizures and changes in mental status. Computed tomography (CT) of the chest, abdomen, and pelvis revealed a 2.5-cm mass in the right breast with associated right axillary lymphadenopathy and no evidence of distant metastatic disease. Diagnostic lumbar puncture was performed and CSF analysis revealed a cell count of 4 white blood cells (WBC) (reference range, < 5 WBC), 324 red blood cells, glucose 59 mg/dL (reference range, < 300 mg/dL), protein 49 mg/dL (reference range, 18–58 mg/dL), oligoclonal bands, and elevated immunoglobulin G (IgG) index. A second CSF sample was obtained several days later and showed similar findings, and viral, bacterial, and fungal cultures were negative. Cytology was negative for malignant cells in both samples. A comprehensive serum paraneoplastic autoantibody panel and a CSF autoimmune epilepsy panel were both negative for autoantibodies (). However, the staining pattern was suggestive of the presence of an unknown neuron-specific autoantibody.\nThe patient underwent biopsy of the right breast mass, which revealed invasive ductal carcinoma, grade 3, Ki-67 90%, estrogen receptor and progesterone receptor negative by immunohistochemical staining (IHC), HER2 equivocal with focal 2+ positivity by IHC, and positive with a HER2/CEN17 signal ratio of 3.2 by fluorescent in situ hybridization. The patient was diagnosed with American Joint Committee on Cancer anatomic stage IIB (cT2N1M0) HR-negative, HER2-positive breast cancer.\nGiven that paraneoplastic encephalitis is concerning in the setting of a new cancer diagnosis, she received empiric steroids and intravenous immunoglobulin (IVIG) with improvement in her seizures, allowing extubation. Her AEDs were weaned to lacosamide 200 mg twice daily and levetiracetam 1,500 mg twice daily, and she was later discharged from the hospital with neurology and oncology follow-up to receive breast cancer treatment.\nUnfortunately, the patient experienced increased seizures shortly after hospital discharge and was admitted to the neurology service at our tertiary referral center with presumed paraneoplastic encephalitis. Plasma-exchange was initiated, and oncology was consulted for assistance in inpatient management. Physical examination revealed that the woman had anxiety and appeared her stated age of 56; a firm, non-tender, 3-cm mobile mass was palpated in her superior right breast with no overlying skin changes; a 3-cm firm right axillary lymph node was palpated. Neurologically, the patient was oriented appropriately and did not have any focal sensory or motor deficits. She had impaired short-term memory, word-finding difficulty, intermittent non-sensical speech, and paranoia. Repeat brain MRI demonstrated edema and abnormal enhancement involving the left mesial temporal lobe, predominantly in the amygdala (). This finding was suggestive of paraneoplastic LE in the clinical context. A CT scan of the chest, abdomen, and pelvis again demonstrated a known right breast cancer with regional axillary lymphadenopathy without evidence of distant metastatic disease (). Given these findings, she was diagnosed with LE, a PND, most likely related to her newly diagnosed stage IIB HR-negative HER2-positive breast cancer.\nAlthough non-metastatic breast cancer is almost always treated in the outpatient setting, the patient required inpatient treatment because her breast cancer was felt to be the most likely underlying cause of her LE, and her ongoing psychosis and seizures made discharge unsafe. Following discussion in our multidisciplinary breast cancer tumor board, the patient received one dose of trastuzumab and pertuzumab (HP) followed by right mastectomy and axillary lymph node dissection. The final pathology revealed a 2.7-cm invasive micropapillary carcinoma, grade 3, HR-negative HER2-positive (3+ by IHC) in the right breast, and 6 of 7 positive axillary lymph nodes correlated with pathologic AJCC anatomic Stage IIIA (pT2N2M0) (). Neuroendocrine markers were not assessed on the pathological specimen, and the specimens were not assessed specifically for the presence of tumor-infiltrating cells. Within a week of her surgery, she experienced enough improvement in her encephalitis, allowing discharge to a memory care facility under 24-hour supervision. She was able to receive adjuvant chemotherapy with docetaxel, carboplatin, trastuzumab, and pertuzumab (TCHP) for 6 cycles. During this time, she experienced no deterioration of neurological symptoms but rather had consistent improvement in her mental status. By the end of the 6 cycles of TCHP, her quality of life improved and she no longer required 24-hour supervision. Interestingly, her long-term memory remained relatively intact despite continued difficulty with short-term memory, including remembering day-to-day events and tasks.\nUpon completion of adjuvant chemotherapy, she was referred for radiation oncology considering post-mastectomy chest wall radiation provided to multiple positive lymph nodes. Unfortunately, on CT, she was found to have an enlarged, abnormal axillary lymph node, which, when biopsied, showed metastatic breast cancer that was morphologically consistent with her primary tumor (). PET/CT was performed for re-staging and demonstrated right axillary adenopathy, but there was no other evidence of metastatic disease (). As a result, she underwent repeat axillary lymph node dissection with 3 of 3 positive lymph nodes with extracapsular extension. This was followed by adjuvant radiation to the chest wall and regional lymph nodes. Given her persistent disease after TCHP, the patient was transitioned to adjuvant ado-trastuzumab emtansine in accordance with the KATHERINE trial []. Over the course of this treatment, her mental status slowly improved, brain MRIs normalized (), and she remained seizure-free. She currently continues to experience deficits in her short-term memory; however, she is able to manage her day-to-day tasks independently. |
A 23-year-old Caucasian woman presented to our emergency department with abdominal pain and recurrent nausea of 6 days’ duration, which had progressively worsened over the past few hours, but without vomiting. The pain, she described, was rather diffuse but more intense in the epigastric region. She denied reflux, diarrhea, urinary symptoms, and fever. She reported that she had been having intermittent problems with diffuse abdominal pain throughout her adult life, but usually milder than this current episode.\nRegarding her medical history, she had suffered from a jejunal atresia in her left-upper abdomen which required surgical treatment in her neonatal period. It was initially treated with a Bishop–Koop side-to-side jejunojejunostomy with chimney. The stoma was reversed approximately 7 months later.\nA physical examination revealed a flat and soft abdomen with a big scar across her upper abdomen, without any evidence of a hernia. Abdominal palpation revealed a mild tenderness in her lower abdomen, particularly in the right lower quadrant. No abdominal masses were palpable. Bowel sounds were normal. A laboratory examination (complete blood count, electrolytes, C-reactive protein, liver, pancreatic, thyroid, and renal function) revealed no abnormality.\nA contrast-enhanced computed tomography (CT) scan of her abdomen with rectal contrast enema was performed. The CT scan demonstrated a markedly altered anatomy of the midgut with a rather usual course of the hindgut (Fig. –). The normal anatomy of the gastrointestinal tract and the anatomical situation in the present case are graphically illustrated in Fig. and , respectively. The duodenum crossed from right to left ventral to the superior mesenteric artery (SMA), suggesting an intraperitoneal position in all of its portions, with the duodenojejunal flexure situated slightly to the left of the midline. The proximal jejunum then crossed back to the right abdomen, posterior to the SMA, suggesting a retroperitoneal position (Fig. ). The following slightly dilated jejunal loops were found lying in the right abdomen. Further distally the distal jejunum/proximal ileum crossed back to the left lower abdomen, remaining in an intraperitoneal position ventral to the mesenteric root. Most of the ileal loops were situated in the left lower abdomen (Fig. ); the cecum was found slightly left of the midline in the umbilical region in close proximity to the ligament of Treitz (Fig. ), thus suggesting a narrow mesenteric pedicle. The ascending colon coursed from the right mid-abdomen toward the ileocecal pole in the left mid-abdomen. Both ascending colon and cecum remained ventral to the mesenteric root in an intraperitoneal position. The transverse colon dorsally crossed the pedicle of the SMA and the superior mesenteric vein (SMV) in a retro-arterial position (Fig. ), defining this anatomic midgut variation as reversed rotation, and extended to the left abdomen to continue as a normal left colic flexure and descending colon. We further noted an inverted relationship of the SMV to the SMA with the vein lying to the left of the artery and an aplasia of the uncinate process (Fig. ). No thickened bowel walls or peritoneal fluid were present.\nCT demonstrated no evidence of frank volvulus, bowel ischemia, or acute bowel obstruction. The patient was diagnosed as having a variant of reversed intestinal rotation.\nShe was immediately started on intravenously administered fluids and analgesics (metamizole), which offered instant pain relief. The clinical findings did not indicate a need for immediate hospital admission or surgical intervention. |
A twelve year old girl presented acutely to the emergency department, with a two day history of right iliac fossa pain associated with nausea and vomiting. No fevers or rigors were reported. The patient denied urinary symptoms and was pre-menstrual. She had a background of recurrent presentations to the emergency department with non specific abdominal pain in the preceding months. This girl had also been investigated by the paediatric service regarding episodes of dizziness, headaches and recurrent epistaxis. All previous investigations were normal. On this occasion, she had tenderness, localised guarding and rebound in the right iliac fossa. Her inflammatory markers were elevated, white cell count (WCC) 14.2 and a C reactive protein (CRP) of 23.4. Intravenous antibiotics were commenced and a plan for surgical intervention was made.\nThe patient underwent an emergency uncomplicated laparoscopic appendicectomy. At the time of surgery, it was noted that the apex of the appendix was distended. (Figure ) There were no signs of acute inflammation or purulent fluid. The base of the appendix was ligated using endoloops and the specimen was submitted for histology. The patient made an uncomplicated recovery and was discharged forty eight hours later.\nPathological examination of the appendix (measuring 60 mm in length) demonstrated a rare case of infiltrating neuroendocrine tumour of the appendix. The tumour penetrated the mucosa, submucosa and muscularis propria with extraluminal extenstion into the mesoappendix. This tumour was well differentiated measuring 25 mm in maximal diameter. The tumour stained positive for chromogranin, CD 56 and synaptophysin. The Ki67 proliferative index measured 15%, therefore consistent with a Grade 2 (G2) neuroendocrine tumour. A microscopic lymph node of the mesoappendix was also analysed which stained positive for chromogranin A, confirming a small metastatic deposit in the centre of the lymph node. (Figure ) The provisional staging of pT3, N1 Mx was assigned and the patient proceeded to staging investigations. A computerised tomography (CT) scan of the thorax, abdomen and pelvis was performed demonstrating a cluster of sub-centimetre lymph nodes in the right paracolic gutter of indeterminate significance. (Figure ) Urinary 5 HIAA testing was also completed and a normal level reported.\nAfter discussion at the gastrointestinal multidisciplinary meeting, the decision to perform a laparoscopic right hemicolectomy was made. The pathological examination of the subsequent right hemicolectomy specimen showed no evidence of residual tumour grossly or microscopically. Forty seven loco-regional lymph nodes were retrieved. Two of these lymph nodes were positive for metastatic neuroendocrine tumour. These were located at 1 cm and 5 cm from the appendicectomy site. All peri-ileal lymph nodes were free of disease. The immunohistochemistry profile again was positive for chromogranin, synaptophysin and CD 56. (Figure ).\nThe patient is currently doing well and has been enrolled on a clinical and magnetic resonance imaging (MRI) surveillance programme. |
A 54-year-old woman presented with one week duration of persistent nausea and vomiting in March 2012. Prior to current presentation, patient has experienced ongoing nausea, lasting more than a month with associated symptoms of early satiety and 10 pound weight loss.\nPatient’s significant past medical history includes diagnosis of stage IIIC ileocecal adenocarcinoma in December 2009, after being presented with intermittent bowel obstruction. Staging at the time of initial diagnosis did not identify any metastasis. Patient underwent a right hemicolectomy with curative intent and also completed 12 cycles of adjuvant chemotherapy with FOLinic acid-Fluororuracil-OXaliplatin (FOLFOX) regimen in August 2010. Subsequently patient had a normal surveillance workup which included carcinoembryonic antigen (CEA) level, colonoscopy and computerized tomographic (CT) scan in August of 2011 showing no evidence of disease recurrence.\nDuring the current presentation, CT scan of abdomen and pelvis with intravenous (IV) contrast revealed marked distention with irregular wall thickening of the duodenum just proximal to the genu causing a partial gastric outlet obstruction (). It also showed enlarged lymph nodes within the small bowel mesentery as well as the retroperitoneum, concerning for recurrent malignant disease.\nPatient was hospitalized and an esophagogastroduodenoscopy (EGD) was performed which showed exophytic mass covering 3 quarters of the circumference of the duodenal wall at the second portion of the duodenum with luminal narrowing but no obstruction (). Biopsy specimen of the mass was identified as a moderately differentiated adenocarcinoma and an immunohistochemical staining profile showed CK-7 negative and CK-20 and CD-X2 strongly positive, supporting diagnosis of colon as the primary neoplasm ().\nA Positron Emission Tomography (PET) scan revealed development of bilateral metastatic lung disease, metastatic bone disease in the cervical and thoracic spine, adenopathy in the mediastinum, right retrocrural and left iliac regions. A Magnetic Resonance Imaging (MRI) of the brain also showed three 7 mm enhancing nodules in the frontal and parietal lobes. Patient subsequently underwent a palliative gastrojejunostomy to bypass the obstruction caused by the duodenal mass and received palliative brain radiation therapy, but chemotherapy was not started due to poor functional and nutritional status. Patient was then placed on hospice care. |
The patient was a 70-year-old female whose past medical history was significant for arthritis and a right total hip arthroplasty approximately 9 years ago. A laparoscopic cholecystectomy (LC) for acute cholecystitis was performed approximately at another hospital approximately two months prior to presentation. She developed a surgical site infection with Escherichia coli (E. coli) bacteremia following her LC and was treated successfully with intravenous (IV) antibiotics. The postoperative course was also complicated by choledocholithiasis requiring an endoscopic retrograde cholangiopancreatography (ERCP) with stone pulverization and placement of two plastic 10F × 12 cm biliary stents. Two days prior to admission, she was hospitalized at an outside facility in septic shock with fevers, chills, lethargy, altered mental status, and blood and urine cultures positive for E. coli. At that time, she endorsed right hip pain and an inability to move her hip or leg. A computed tomography (CT) scan of her right hip revealed two partly calcified soft tissue masses associated with the right iliopsoas and obturator internus muscles (). A CT-guided fine needle biopsy of the right hip and psoas locules aspirated 100 mL of frank pus notable for a nucleated cell count of 344,000 (98% PMNs) with growth of E. coli. As a result, the patient was transferred to our institution with concerns for an iliopsoas abscess and a periprosthetic infection.\nOn admission, she was febrile to 102.7 F without any significant distress. Her physical examination was remarkable for a well-healed, right lateral hip incision with no erythema or drainage. She experienced pain with right hip flexion and internal rotation. Laboratory studies showed WBC, hemoglobin and hematocrit, basic metabolic profile, and liver function tests all within normal limits. A 3 cm hepatic abscess was identified on CT scan of the abdomen and pelvis. An MRI of the right hip showed a large air- and fluid-filled collection tracking along the iliopsoas bursa and psoas musculature into the pelvis (). This collection communicated with the hip prosthesis, and on CT imaging, the acetabulum component appeared to be medialized beyond the medial wall of the acetabulum as depicted in . Regarding the hepatic abscess, the patient was managed with IV antibiotics and interventional radiology (IR) placed drainage catheter.\nTo address the hip periprosthetic infection, the patient was managed in multiple surgical stages. In the first stage, an irrigation and debridement of the right hip and explantation of components were performed through an anterior approach. The femoral and acetabular components were explanted. Purulent material was seen draining from the pelvis through a medial acetabular wall defect into the hip joint. Approximately 1 liter of pus was evacuated from the hip joint. Multiple irregularly shaped granulated pea-sized pieces of hard brown substance were found deep in the acetabulum. A handful of this material was removed which suggested that these were spilled gallstones from the patient's recent LC.\nTemporary components were replanted with an antibiotic impregnated cement spacer system [] (Figures and ). An antibiotic cement spacer with gentamicin was placed in the acetabulum defect, and a loosely fitted antibiotic-cemented stem was placed in the proximal femur.\nThe intrapelvic iliopsoas collection could not be fully debrided through the anterior approach, and IR was consulted for drain placement and serial debridements, which were conducted with a rotating basket Trerotola device over the course of the next four weeks. In , contrast dye can be seen tracking from within the iliopsoas abscess into the hip joint.\nFour weeks following her explantation, the patient returned to the operating room for placement of a second temporary weight bearing custom-fitted prosthesis made from methyl methacrylate with gentamicin-impregnated antibiotics [] (Figures and ). For the acetabulum, methyl methacrylate was molded in its doughy state into the cavities and deformities of the acetabulum, and a polyethylene acetabulum was pressed into the cement. The femur was reamed to size of a large diameter chest tube. A femoral stem and a reinforcing wire were cemented into the chest tube, and once the cement was hardened, the femoral stem encased in a solid cylinder of bone cement was removed from the chest tube and malleted into the proximal femur.\nPostoperatively, the patient did well. She was made weight bearing as tolerated, ambulated with physical therapy and elected to delay placement of permanent components. She was eventually discharged to a short-term rehabilitation facility with a 6-week course of IV antibiotics.\nApproximately 18 months later, she presented to our clinic complaining of hip and thigh pain with ambulation. She was followed by infectious disease as an outpatient with multiple hip aspirations which had negative cultures. X-rays revealed her temporary prosthesis to be stable, but with radiolucencies primarily around the femoral component (). The patient was taken to the operating room, the temporary prosthesis was removed, and a long porous coated system was inserted (). Intraoperative cultures grew vancomycin-resistant enterococcus (VRE), and the patient was eventually discharged to home with a 12-week course of daptomycin and outpatient physical therapy. Now, two years from her initial explantation, she continues to follow up monthly in our clinic and states that she is doing well. Her final construct is shown in . She continues to have a moderate limp but ambulates without assistive devices. Her pain is much improved and she is no longer on chronic antibiotic suppression with no clinical signs or symptoms of recurrent infection. |
A 25-year-old woman presented in the endocrinology clinic, in October 2013, with eyelid swelling, redness and retrobulbar pain with suspected Graves’ orbitopathy after ophthalmological examination, 4 months after delivery (Fig. ). Symptoms started during the third trimester of her pregnancy, in April 2013, which were considered pregnancy related phenomena and thus remained untreated. The patient did not have diplopia at the first visit, however, she complained about intermittent double vision starting 1 month later. In addition, she complained of a palpable “nodule” in the left side of her face.\nThe patient has had bronchial asthma and recurrent skin rashes of unknown aetiology for the past 10 years. Repeated examinations failed to find any evidence of an autoimmune disorder. Total IgG level was normal, while IgA and IgM were lower in 2008; with follow-up being recommended (Table ). Dacryoadenitis was diagnosed by ophthalmological examination and MRI in 2009 (Fig. ). Her symptoms disappeared within a few days after using a steroid containing eye drops.\nOn arrival at the endocrine unit in 2013, no signs or symptoms of hyperthyroidism were present. The thyroid gland was of normal size and without nodules. The palpable nodule on her face was identified, by ultrasound, as an unusual swollen limb of the left parotid gland, while thyroid ultrasound revealed no abnormalities. Physical examination revealed rashes on her legs. Proptosis values (measured by Hertel’s exophthalmometer) were 24 mm on the right side, and 21 mm on the left side. Visual acuity was 1.0 in both eyes, intraocular pressures were 16 mmHg and 20 mmHg on the right and left sides, respectively. Pupils were isocoric, equal and had normal reaction. Digital retropulsion did not suggest a mass or tumor in the retrobulbar space. Upon examination both the lower and upper eyelids were found to be markedly swollen and a swollen lacrimal gland became visible after the right upper eyelid had been lifted.\nOrbital MRI showed enlarged lateral and superior rectus muscles, and eyelid oedema and swollen lacrimal gland in both orbits while the typical MRI features of Graves’ orbitopathy (proptosis, enlarged extraocular muscles, most frequently the inferior and medial rectuses, excessive amount of orbital connective tissue) were missing (Fig. ). Serum levels of TSH and thyroid hormones were in the normal range. TSH receptor antibody and thyroid peroxidase antibody levels were not elevated (Table ). Based on her medical history, laboratory and imaging results, the possibility of IgG4-rd was suspected. A markedly elevated IgG4 level was observed (Table ). Histological examination of the right lacrimal gland confirmed the diagnosis of Ig4-related orbitopathy, with both CD138 (the unique cell surface marker of plasma cells) and IgG4 immunohistochemical stainings showing plasmacytic infiltration in the same localisation (Fig. ), and excluding other IgG4 positive conditions thereby confirming the diagnosis of IgG4-related orbitopathy.\nPlaced on oral corticosteroid administration (methylprednisolone, 16 mg daily) a rapid improvement in both the eye symptoms and skin rashes was observed within a few days (Fig. ). However, after gradual tapering of the corticosteroid therapy (from January to March 2014), her ocular symptoms relapsed. After a second course of oral methylprednisolone for 8 weeks (from April to June 2014), the parotid gland enlargement disappeared and she remained asymptomatic for the next 24 months. However, IgG4 level started to rise during follow-up and in April 2017, periodic skin rashes appeared on the legs. As IgG4 level rose, skin biopsy was suggested, which she did not consent to. Her skin symptoms are currently under control with glucocorticoid-containing ointments. Should systemic treatment for the IgG4-rd be necessary in the future, rituximab therapy could be considered, since she has already rejected any future steroid courses fearing weight gain as one of its side effects []. We assume that the swollen parotid gland and skin symptoms are additional manifestations of IgG4-rd, however, without biopsy this remains unproven. |
A 17-year-old female patient was admitted to the hospital on September 9, 2019 with abdominal pain that had lasted for half a year and had been worsening for half a month.\nOn September 8, 2019, the patient visited Xiamen Third Hospital for an abdominal US. A homogeneous mass with fluid echo was detected in the left middle abdomen that was suspected as being a retroperitoneal tumor. The patient came to our hospital for further diagnosis and treatment.\nThe patient was in good health with no history of infectious disease, allergy, or surgery.\nThe patient has no family or genetic history of disease.\nA standard physical examination was performed. The abdomen was flat and soft; there was tenderness on the left side but no rebound tenderness and no Murphy’s sign. The mass in the left middle abdomen was about 8 cm × 10 cm in size, with an intact capsule but without a distinct boundary; the mass showed poor mobility with tenderness elicited in the palpation test. The liver and spleen were impalpable under the ribs, and there were no obvious gallbladder abnormalities. Further physical examination revealed drum sounds on percussion, negative shifting dullness, and normal bowel sounds on auscultation.\nNo abnormalities were found in the routine blood, urine and stool analysis, or liver and kidney function.\nA clinical examination after admission on September 9, 2019 revealed sinus arrhythmia by electrocardiography, and a pulmonary nodule in the right lower lobe by helical CT that may have been an old pulmonary lesion. Abdominopelvic enhanced helical CT showed a retroperitoneal space-occupying lesion in the upper left quadrant of the abdomen that was presumed to be retroperitoneal liposarcoma or teratoma (Figure ).\nWe used the proprietary XMQB-Liver software (Xiamen Qiangben Technology Co, Xiamen, China) for 3D reconstruction of CT images. The software allowed rotation, blurring, and elimination of elements in the 3D model (Figure ), provided omnidirectional views (Figure and ), and allowed tumor virtualization (Figure ), removal of normal organs, and observation of the relationship between the tumor, blood vessels, and surrounding organs (Figure ). The tumor was located in the upper left retroperitoneum and was about 11.3 cm × 9.1 cm in size with well-defined borders; it compressed the left renal artery and vein, resulting in vascular displacement and deformation. The inferior vena cava and abdominal aorta were unaffected. The left kidney and adrenal gland were shifted forward and downward under pressure; there was no visible invasion of the liver, spleen, pancreas, or stomach. The intestines could not be reconstructed. |
A 25-year-old female patient who had sudden painless blurred vision in her right eye 3 months ago admitted to the clinic. Her visual acuity was 20/20 (LogMAR 0.00) in both eyes. Intraocular pressures were 16 and 14 mm Hg in the right and left eyes, respectively. Pupils were round and reactive in both eyes without evidence of the relative afferent pupillary defect in either eye. Biomicroscopy of the anterior segments were unremarkable. Dilated fundus exams revealed mildly attenuation and tortuosity of retinal arteries in both eyes. Three months ago, in the right eye fundus photo; intensive, extensive pallor and retinal edema in the lower quadrant of the retina due to inferotemporal BRAO was seen []. No embolic plaques were noted. The red-free photograph of the right eye greatly accentuates the retinal whitening and attenuation of the inferotemporal retinal artery []. Optical coherence tomography of the right eye showed normal foveal contour with inner retinal ischemia and thickening, with shadowing of the photoreceptors and retinal pigment epithelial layer consistent with an acute inferotemporal BRAO []. Fundus examination and images taken in our clinic at the 3rd month confirmed the recovery of retinal edema in the right eye []. Attenuation of the inferotemporal retinal artery still mildly appeared []. Applied confrontation fields (standard automated perimetry, program test 30-2) showed a visual field defect corresponding with the affected area in the right eye and normal visual field in the left eye. Informed consent was taken from the patient to report this case.\nThere was no history of smoking, migraine, systemic, infectious disease, malignancy, trauma, medication, or surgery. Cardiological and neurological evaluations were reported as normal in another center. The results of magnetic resonance imaging of the brain and orbita, electrocardiogram and echocardiography, Doppler ultrasound imaging of the carotid arteries were normal. Evaluation for potential stroke factors revealed no suggestive family history.\nNo ocular therapy was offered. The patient was advised to go to hematology. Blood investigations including complete blood count with erythrocyte sedimentation rate, platelet count, coagulation profile, prothrombin/activated partial thromboplastin time, autoimmune markers, antiphospholipid antibody, anticardiolipin antibody, protein C and S levels, enzyme-linked immunosorbent assay for human immunodeficiency virus, and serum homocysteine were all within normal limits. However, she had dyslipidemia in her lipid panel. In her genetic screening, there was only a PAI-1 4G/5G polymorphism, but not the other (Factor V Leiden, methylenetetrahydro-folate reductase, prothrombin G2010A) mutations. |
A 78-year-old man with a medical history of Acute Myelogenous Leukemia (AML) in a blast crisis, presented for chemotherapy induction. Following chemotherapy, he remained neutropenic and his recovery was complicated by bronchiolitis obliterans with organizing pneumonia, pansinusitis, and renal insufficiency. After treatment with three separate course of steroids, his immune function gradually improved clinically and he began prophylaxis with Azole and Micafungin. After resolution of the initial respiratory symptoms, he again became short of breath and also developed several new skin lesions and blurred vision in his left eye. A computed tomography scan (CT) of the chest demonstrated multiple nodules in his lungs. Based on pulmonary, cutaneous, and ocular involvement, a disseminated infectious etiology was suspected.\nThree consecutive sputum cultures were found to be negative for acid-fast bacilli, and blood cultures returned positive for trichosporon. A skin lesion biopsy then microbiologically confirmed disseminated trichosporonosis.\nThe patient complained of blurred vision in his left eye. Best corrected visual acuity was 20/30 in his right eye and 20/40 in his left eye. Visual fields were full to confrontation in both right and left eyes. Extraocular movements were full and no abnormalities were noted on gross examination. Intraocular pressure measured 17 in the right eye and 18 in the left eye. Color vision was within normal limits, as assessed with Ishihara color plates. Slit lamp examination was within normal limits in each eye, both having normal eyelids, white conjunctiva, deep anterior chambers, and round and reactive pupils. There was no sign of anterior segment inflammation or anterior chamber reaction. The patient had posterior chamber intraocular lens in both eyes as a result of cataract surgery in the past. Funduscopic examination revealed multiple chorioretinal lesions in the left eye consistent with metastatic yeast [Figures –]. Based on evidence of disseminated trichosporonosis from blood cultures and skin biopsy, the patient's visual complaints were attributed to trichosporon endophthalmitis.\nThe patient received a six-week course of micafungin and voriconazole, to help eradicate the disseminated trichosporonosis. His immune function subsequently improved and his visual complaints also resolved. |
A 54-year-old woman with diabetes was referred to the cardiology clinic with dyspnea and chest discomfort on moderate exertion. ECG and Physical examination was normal. Transthoracic echocardiogram showed normal ejection fraction, grade 1 diastolic dysfunction, no significant valvular dysfunction and no pathology in other chamber and pericardium. Because of the moderate pretest probability of coronary artery disease (CAD), exercise treadmill test (ETT) was done which was positive for CAD. The patient was scheduled for coronary angiography via right radial artery.\nAfter the first dye injection in the right coronary artery (RCA), a radiopaque area was seen in the right coronary sinus that expanded to the ascending aorta, and patient experienced chest pain, suggesting catheter-induced (iatrogenic) right coronary sinus and ascending aortic dissection ().\nRight coronary artery also showed no coronary disease and the patient had stable condition. A few minutes later patient’s chest pain decreased and ECG did not show any sign of ischemia. Bed side echocardiography (TTE) was then performed to evaluate for a dissection flap. By TTE, no abnormality was noted. Computed tomography (CT) also demonstrated no evidence of aortic dissection and sub intimal hematoma.\nSince the patient’s condition was stable, it was decided to perform watch and wait strategy and therefore she was treated non-surgically, with aggressive blood pressure control.\nAfter 8 hours the patient experienced mild chest discomfort. ECG showed junctional rhythm with no ischemic change (). Six hours later her blood pressure decreased and atrial fibrillation was observed in ECG ().\nEchocardiography was repeated and showed normal EF. No pericardial effusion but there was a mass compressing RCA ostium.\nWe decided to repeat the coronary angiography. Angiography was performed via right femoral artery. LM, LAD and LCX was normal. Right coronary injection showed severe narrowing and slit like RCA ostium .SA node artery was absent ().\nDES stent 3*28 was deployed from RCA-ostium to proximal RCA. Subsequent injection showed no further contrast staining of the aortic wall. The flow in the RCA was normalized ().\nTwo hours after PCI of RCA, ECG was normal sinus rhythm and the patient had no chest pain. Follow-up echocardiography revealed normal left ventricular function and a normal aortic root. |
A 68-year-old woman was admitted to our hospital. She complained of epigastric pain that occurred after eating, bloating, nausea and vomiting. The preoperative study included barium swallow and esophagoscopy. The initial diagnosis was performed by barium esophagram, which revealed an epiphrenic diverticulum located on the right side and in the lower third of the esophagus (). The diverticulum measured 7.5 cm in length and 6.2 cm in width; the neck was 2 cm in length. Contrast medium was retained in the diverticulum all the time during examination. The contrast medium emptied slowly from the diverticulum through the esophagus to the stomach. Also esophageal stasis above the diverticulum was found. Esophagogastroscopy was performed to exclude any diverticular ulceration or neoplastic strictures. A large epiphrenic diverticulum 33–34 cm from incisors with a mouth of 4 cm and a few erosions in the antrum of the stomach were established. In order to exclude malignancy of the esophagus the patient was referred for a neck and chest spiral computed tomography (CT) scan. It confirmed the diagnosis, showing a 7.5 cm × 6 cm diverticulum with a 4 cm mouth and revealing no evidence of other masses or sign of malignancy ().\nSurgery was indicated by the severity of the patient's symptoms and size of the diverticulum. A laparoscopic transhiatal diverticulectomy, myotomy and Dor fundoplication were planned.\nSurgery was performed under general anesthesia with orotracheal intubation, by the laparoscopic approach. The patient was placed in a reverse Trendelenburg (30-degree) supine position with legs spread. The surgeon stood between the patient's legs. A Veress needle was inserted 5 cm above the umbilicus. To form the pneumoperitoneum, CO2 at 10 mm Hg was used. The trocar and video laparoscope were placed. Under the control of the laparoscope, two trocars (10 mm and 12 mm) on the left side of the abdomen and two 10 mm trocars on the right side of the abdomen were inserted (). The first assistant was at the left side of the patient and was holding the video laparoscope and surgical instrument, which was placed in the left 10 mm trocar. The second assistant was at the right side of the patient and was lifting up and holding the left lobe of the liver. After the esophagogastric junction was indentified, the operation started with mobilization of the abdominal esophagus from the diaphragmatic pillars and dissection of the diaphragmatic cruses. Harmonic ACE curved shears were used. Once a wide retroesophageal space was created, gentle traction was applied to the esophagus using a retractor. The gastroesophageal junction was then encircled with umbilical tape to aid with traction during the mediastinal dissection. Then, epiphrenic diverticulum of the esophagus was mobilized from the mediastinum about 7 cm above the diaphragmatic cruses (). After preparation of the diverticular pouch was completed, the 4 cm long diverticulum neck was sewn with the endoscopic linear surgical stapler Echelon FLEX 60 under intraoperative esophagogastroscopic control (). The resected diverticulum was inserted in a retrieval bag. No evidence of esophageal stricture was observed, and the operation continued with esophageal myotomy 5 cm above and 3 cm below the gastroesophageal junction. After myotomy was performed, a test with gas showed no leaks from the staple line. The procedure was completed with Dor fundoplication. Ethibond 3/0 interrupted stitches were used. The bottom of the anterior stomach wall was sewn to the myotomy edges with Ethibond 2/0 interrupted stitches from both sides. To close the diaphragmatic lesion the upper stitches were sewn to the diaphragmatic cruses. The retrieval bag with the diverticulum was removed through the 12 mm port previously placed for the stapler. The abdominal cavity was not drained, and the trocar wounds were sutured. The resected pouch was sent to the laboratory for histological analysis ().\nThe patient tolerated the surgery well. The overall operative time was 180 min. On the first postoperative day an esophagogram with Gastrografin swallow () and chest X-ray was performed. It excluded any defects of suture line integrity and pneumothorax. The patient had no complaints of dysphagia or vomiting. A liquid diet was prescribed for 3 days; it was tolerated without any pain, regurgitation or dysphagia. On the 4th day after surgery the patient was discharged from hospital in a good state of health with recommendations for a soft diet for 5 days.\nThe results of histological analysis showed a 7.5 cm × 6 cm esophageal diverticulum with 0.3 cm thickness of the wall. It was covered with stratified squamous cell epithelium, had some focal erosions, and was infiltrated with monomorphic leukocytes. Partial or total atrophy of the muscular layer of the diverticulum was observed.\nFrom the 10th postoperative day the patient resumed a regular diet. Four weeks after the operation the patient had no complaints, symptoms of dysphagia or vomiting. |
A 71-year-old female, who had previously undergone a craniotomy for clipping of a ruptured left posterior communicating artery (PCOM) aneurysm 18 years prior, presented with a Hunt and Hess Grade II, Fisher Grade III SAH. Computed tomography angiography (CTA) and catheter cerebral angiography showed a large (12.5 mm × 13.3 mm), fusiform supraclinoid ICA aneurysm arising around the previous clip and extending to the ICA bifurcation []. The patient had a fetal left PCOM, which arose from the inferomedial portion of the aneurysm. After a multidisciplinary discussion regarding the treatment options, we decided to proceed with a staged multimodality approach, including partial microsurgical clip reconstruction (Stage 1), followed by endovascular embolization of the residual aneurysm (Stage 2).\nThe patient was positioned in a standard fashion for a pterional craniotomy, except with slightly less neck extension to allow for a better surgical view of the anterior clinoid process (ACP). We reopened the patient's prior pterional craniotomy and extended it medially to expose a greater extent of the basal frontal lobe. We used the subfrontal corridor to expose the ipsilateral optic nerve and ICA. The previous clip was identified lateral to the ipsilateral ACP. We then opened the Sylvian fissure from a distal to proximal direction to identify the M1 and M2 segments of the middle cerebral artery. Next, the basal cisterns around the left optic nerve and ICA were opened to expose the fusiform aneurysm and ICA bifurcation. On further dissection of the aneurysm, we identified a superomedial area which appeared to be the site of rupture.\nAlthough the entirety of the fusiform aneurysm could be visualized at this point, it was too bulbous for clipping without proximal control. Therefore, we performed an intradural anterior clinoidectomy in a standard fashion. We then incised the lateral distal dural ring, which exposed the C5 (clinoidal) segment of the ICA and resected the falciform ligament overlying the left optic nerve. This allowed us to place a temporary clip on the clinoidal ICA, which sufficient softened the fusiform aneurysm to allow for clip reconstruction. Two fenestrated clips were used to reconstruct the distal portion of the aneurysm (between the PCOM and ICA bifurcation) and secure the rupture site.\nThe temporary clip was removed, and the clip from the patient's previous surgery was dissected from the roof of the cavernous sinus and removed. This revealed the fetal PCOM arising from the medial aspect of the aneurysm. After reapplying the temporary clip, we used another two fenestrated clips to reconstruct the proximal portion of the aneurysm (below the PCOM). Postoperative CTA and cerebral angiography showed two residual aneurysm components, including a superior component arising from above the clip construct and an inferior component arising between the superior and inferior sets of two fenestrated clips []. The fetal PCOM originated from the inferior component.\nThe patient subsequently underwent endovascular treatment of clinical vasospasm and ventriculoperitoneal shunt placement for post-SAH hydrocephalus. After the patient had endured the sequelae of her SAH and was beyond the vasospasm window, we performed endovascular coiling of both residual aneurysm components during the same hospitalization []. The remainder of her hospital course was uneventful, and she was discharged to a rehabilitation facility in neurologically stable condition. |
A 13-month-old female child diagnosed with cleft palate Veau Class II underwent a corrective operation. She was found to have a relatively large cleft in the hard palate posterior to the incisive foramen and through the middle of the soft palate ().\nPreoperatively, the authors had to account for palatal speech capabilities and maxillary growth of the child in the future. At first, double opposing palatoplasty was considered but not chosen due to the large cleft. Intraoperatively, von Langenbeck palatoplasty was performed on the right palate, and V-Y pushback palatoplasty was performed on the left side (). On the right side, a medial incision was made along the cleft edge, and a lateral relaxation incision was performed from the maxillary tuberosity to the posterior portion of the alveolar ridge. Then, the bipedicled mucoperiosteal palatal flap was elevated. The same method was used on the left side, and then an oblique incision that joined the medial incision and the lateral relaxation incision was designed. Both flaps, on the oral side and on the nasal side, were elevated. The flaps were made more mobile via skeletalization around the neurovascular pedicle arising from the greater palatine foramen. The palate was closed sequentially, beginning with the nasal side, using 4-0 Vicryl suture. A both side based vomer flap was used in the anterior part of the nasal side to loosen the tension due to the wide cleft interval, and intravelar veloplasty was performed simultaneously to relocate the levator sling to its original position. The left flap of the oral side was backed astern. Then the closure was performed without tension, by approximating the midline, using 4-0 Vicryl suture. The surgery was completed after maximum approximation suture was performed to decrease the surface of the denuded bone at the lateral relaxation incision site on both sides.\nThe novel method, named "half-and-half palatoplasty," was performed by combining von Langenbeck palatoplasty on the right side and V-Y pushback palatoplasty on the left side (). Contrary to concerns regarding the combination of operations, the uvula and midline incision remained balanced in the middle. The result of veloplasty was stable, and the palate lengthened by 10 mm along the midline. The patient was discharged home with her parents on day 5 postsurgery. There were no complications such as fistula formation or wound disruption at outpatient clinic visits (). At 15 months after surgery, we did not observe abnormality of maxillary growth in this patient. The child is expected to undergo speech assessment soon. |
A 61-year-old man presented with severe headache on November 30, 2008. A more detailed history revealed that he had been suffering from severe headache of acute onset from 3 days beforehand. Head computed tomography (CT) demonstrated a high-density lesion in the right temporal lobe (Fig. a) with a mean diameter of 40 mm. On the magnetic resonance imaging (MRI) performed on December 9, 2008, the lesion was visualized as mixed intensity on T1- and T2-weighted images, and showed strong enhancement following intravenous administration of gadolinium diethylenetriaminepentaacetic acid (Fig. b–d). The lesion was surrounded by perifocal cerebral edema. Based on these findings, hemorrhage in the brain tumor was suspected. Cerebral angiography showed that the tumor was supplied by both the internal and external carotid arteries (Fig. a, b). Neurological examination did not reveal any neurological deficit during this admission. We planned the operation for January 9, 2009, and the patient was discharged from the hospital.\nThe patient presented to the hospital again with severe headache on December 26, 2008. Repeat CT revealed another high-density area within the tumor and more extensive peripheral edema, the findings suggestive of recurrence of the intratumoral hemorrhage (Fig. a). The patient was treated conservatively until the operation. During the preoperative period, the patient developed consciousness disturbance. Follow-up CT scans obtained after admission demonstrated another recurrence of the intratumoral hemorrhage (Fig. b–d). On January 7, 2009, the patient fell into a coma, and emergent right temporal craniotomy was performed. Intraoperative findings confirmed that the tumor was attached to the dural membrane of the middle fossa, showing no attachment to the ventricular system. The tumor was clearly demarcated from the surrounding brain tissue and gross total resection was performed.\nHistological examination revealed that the lesion was very cellular and well vascularized. Many blood vessels, hemorrhages, and vascular proliferation were seen, but pseudopalisading necrosis was not seen in the specimen (Fig. a, b). The nuclei were polymorphic; there were some mitotic figures and numerous perivascular pseudo-rosette formations (Fig. c). Immunohistochemical study revealed positive staining of the tumor cells for glial fibrillary acidic protein (GFAP) (Fig. d), epithelial membrane antigen (EMA) (Fig. e), S-100 protein, and vimentin. However, the tumor showed negative staining for CD34 and bcl2. The MIB-1 labeling index was 10–30 %. The pathological diagnosis was anaplastic ependymoma.\nPostoperative MRI demonstrated gross total resection (data not shown). After surgery, focal radiation therapy (60 Gy) and chemotherapy (temozolomide) were administered. The patient showed no neurological deficit after the treatment, and was discharged.\nThe patient was admitted again with back pain and gait disturbance on November 8, 2009. MRI of the thoracic spine demonstrated a tumor with hematoma in the spinal canal (Fig. ). A second operation was performed, and histopathological examination revealed recurrence and dissemination of the anaplastic ependymoma. |
Presentation
The first case involves a 78-year-old female with IV bronchogenic adenocarcinoma with involvement of the left upper, right middle, and right lower lobes. She had undergone previous chemotherapy and wedge resection with lymphadenectomy of the right middle and right lower lobe tumors. The patient also had undergone SRS of the left upper lobe two years prior to presentation. Treatments had been done both at our facility and at an outside institution. Despite these therapies, she was noted to have disease progression around the site of previous stereotactic therapy. After a discussion of the patient’s case at the multidisciplinary tumor board, the decision was made to proceed with resection of the left upper lobe. Preoperatively the patient had undergone CT-guided biopsy to confirm recurrence as shown in Figure .
Intervention
The patient was taken into the operating room and during the thoracoscopic evaluation of the left chest, there was noted extensive adhesion around the left upper lobe. After mobilizing and freeing the lung there was purulent drainage from the chest wall which was cultured and irrigated. Drainage was noted to be originating from a rib fracture and a fragment of the fractured third rib was resected and sent for pathological analysis. Intraoperative image is shown in Figure . We then proceeded with wedge resection of the apical posterior segment and mediastinal lymphadenectomy.
Hospital Course and Follow Up
The patient was admitted to the step-down unit. She was maintained on cefazolin given the purulent materials encountered, however, cultures were negative. Pathology of the bone fragment revealed necrosis without evidence of malignancy. The wedge resection was consistent with well-differentiated mucinous adenocarcinoma without lymph node involvement and negative margins. Her chest tubes were removed on hospital day three and she was discharged to home on oxygen. The patient continues palliative Taxol and has been doing well as of her one-year follow-up. |
A 14-year-old Indian girl presented with a history of sudden onset shortness of breath and was sent to the radiology department for a chest radiograph (CXR). The image showed bilateral middle and lower zone pulmonary alveolar infiltrates with relative sparing of the upper zones (Fig. ). Her medical history indicated that she had been diagnosed with APML and had been started on chemotherapy as per the International Consortium for Childhood APML 02 protocol which included ATO and ATRA. Table shows her initial laboratory results at admission. She developed worsening respiratory distress soon after the initiation of chemotherapy with increasing oxygen dependence and was transferred to the Pediatric Intensive Care Unit for ongoing care. ATRA and ATO were discontinued. Table shows her laboratory test results after she became symptomatic.\nWithout any further testing to avoid wasting valuable time, systemic steroid (dexamethasone 10 mg/m2) therapy was initiated. Appropriate respiratory care in the form of bilevel positive airway pressure (BiPAP) was given. A computed tomography (CT) scan of thorax showed multiple bilateral lung nodules with surrounding changes in ground-glass opacity predominantly in the lower lobes (Fig. ).The differential diagnosis based on her imaging findings included infective causes (bacterial, viral, fungal), leukemic infiltrates, acute respiratory distress syndrome (ARDS), leukostasis as part of hyperleukocytosis, drug toxicity, pulmonary oedema and pulmonary haemorrhage. Leukostasis was ruled out since the patient had a low TLC (2.9 × 109/L), and a requirement for leukostasis is a very high WBC count (> 100 × 109/L). Further, radiological studies revealed lung nodules with patchy changes in ground-glass opacity whereas leukostasis is characterised by more confluent opacities with interlobular septal thickening.\nWith the treatment described above, her clinical, in particular her respiratory status, improved rapidly. A subsequent CT scan of the abdomen after 4 days of treatment showed a reduction in the lung changes at the visualised lung bases (Fig. ). The changes in ground-glass opacity had almost disappeared with subsidence of the nodules. A CXR performed at around the same time also showed a reduction in the lung changes (Fig. ), with bilateral reduction of the infiltrates in the middle and lower zones. Based on the clinical improvement and imaging changes following withdrawal of ATRA/ATO and starting of dexamethasone, the diagnosis that met all the features was that of differentiation syndrome. This was a rther unique diagnosis since most cases of DS reported in the literature are usually associated with high TLC (> 5 × 109/L). Thus, based on the radiological features and clinical correlation a difficult yet crucial diagnosis was possible which significantly affected the patient’s further treatment. |
A 76-year-old female taking warfarin due to a past pulmonary embolism presented to the emergency department jaundiced with a 3-day history of diffuse atraumatic myalgia and macroscopic hematuria. Laboratory evaluation revealed an international normalized ratio (INR) of 14.04. She was consequently administered Vitamin K. Initial neurovascular examination was normal, though within 10 minutes, the patient deteriorated with an acute onset of flaccid quadriplegia, graded as an American Spinal Injury Association (ASIA) score of A. This was accompanied by severe neck pain and respiratory distress with an O2 saturation of 73%. She was intubated, administered Beriplex, and continued to receive Vitamin K. Within 2 hours, her INR normalized to 1.60 with motor functioning limited to flickers in her toes and right fingers. An MRI performed 4 hours after symptom onset demonstrated an SSEH from C2 to S5, causing significant posterior spinal cord displacement, central canal stenosis, spinal and cauda equina nerve root compressions, seen in Fig. . The patient was transferred to the orthopedic spine team for assessment of a possible intervention, where she began to demonstrate recovery of neural functions. By 11 hours after the onset of her symptoms, the patient had improved to an ASIA score of D, with a Medical Research Council (MRC) grading of 4+ in her upper limbs and 4 in her lower limbs. The ensuing sustained motor improvement motivated the team's preference for close neurologic monitoring and continued medical therapy over surgery. She continued to improve and was extubated 13 hours after symptom onset. By 20 hours, the patient had regained full motor and sensory functions, returning to her initial neurological baseline at an ASIA score of E. Dilated intrahepatic and common bile ducts were incidentally detected on MRI, prompting an endoscopic retrograde cholangiopancreatography (ERCP). The ERCP demonstrated obstructions in the biliary tree consistent with choledocholithiasis, as seen in Fig. . Subsequent sphincterotomy removed 81 common bile duct stones. MRI performed a month after symptom onset demonstrated complete resorption of the SSEH without spinal surgical intervention as seen in Fig. . The patient maintained full neurological function at final follow-up 3 months after the nonsurgical resolution of her SSEH. The patient's informed consent for this report was obtained and further approved by McGill University Health Centre's Ethics Review Board. |
A 55-year-old male was referred to our department for a palpable, slow-growing, painless mass in his left hemiscrotum. The patient admitted that the mass had progressively increased in size during the last 6 years without however causing pain or other symptoms. The patient’s medical history was significant for BPH and diabetes mellitus. At clinical examination, a painless, large, solid, mass was palpated in the left hemiscrotum extending to the perineal region, without being clearly distinguished on palpation from the surrounding scrotal components. The inguinal lymph nodes were not palpable. Laboratory tests were normal and serum markers for testicular cancer (β-HCG, AFP, LDH) were within normal limits.\nUltrasonography showed a large (5×6 cm), hyperechoic scrotal mass separated from the ipsilateral testis. A pelvic magnetic resonance imaging (MRI) was scheduled in order to better define the nature of the mass. MRI confirmed the presence of a mass in the left hemiscrotum extending up to the base of the corpus cavernosum. The mass showed a high T1 signal intensity characteristic of fat-containing tumors (both benign and malignant) and was clearly separated from the ipsilateral testicle. The signal intensity was heteroge-neously high in T2 sequences as well ( and ). The finding was considered indicative of a benign tumor with the differential diagnosis also including a liposarcoma of the scrotum. A routine chest X-ray was normal and the patient having been informed about the, albeit small but present, possibility of malignancy agreed to undergo surgical exploration of the scrotum and excision of the mass.\nAn inguinal incision extending into the left hemiscrotum was carried out and the scrotum was entered revealing a solid vascularized mass. The mass was remote from the testis and epididymis and was completely extirpated with relative ease from the adjacent structures sparing the testis and epididymis. The patient’s postoperative course was uneventful and he was discharged on the 2nd postoperative day. He is healthy and free from local relapse at 6 months.\nMacroscopically, the specimen consisted of a well-defined, solid, yellowish white, mass, 19.5×7×5 cm in dimensions, surrounded by a thin fibrous capsule. Under microscopy, the presence of mature adipocytes among fibrous substrate was evident (). No cellular atypia, mitotic activity, lipoblasts, or necrosis was observed. No smooth muscles were recognized using the Azan stain. In immunohisto-chemistry the tumor cells were negative for desmin, a-smooth muscle antigen, p53 protein, CD34, MDM2 and CDK4.\nThe pathology report was fibrolipoma with extensive mucoid degeneration. |
At time of referral the patient was a 38 year old woman with slowly progressive symmetric proximal weakness and muscle cramps. She had no prior history of neuromuscular disease. Four years prior, she was diagnosed with acute lymphocytic leukemia (ALL), and received two allogeneic BMTs (four and 2 years prior to presentation) from different donors. Following the second transplant she was in remission from ALL but developed eruptions affecting her skin and oral mucosa that were attributed to graft-vs.-host disease (GVHD). She originally received treatment with prednisone and tacrolimus for 1 month, and due to lack of effect tacrolimus was changed to cyclosporine. Prednisone was discontinued after another 9 months following which her GVHD symptoms remained well-controlled on cyclosporine.\nFour months after stopping prednisone, she developed weakness when trying to rise from a chair, lifting arms over her head, and had symmetric muscle cramps. She was not reporting other neurological symptoms, namely no facial weakness, bulbar symptoms, contractures, cardiac or respiratory symptoms. Since she had not developed other GVHD symptoms, it was not clear whether these symptoms were a manifestation of GVHD or another condition. On family history, there were no family members known to have any neuromuscular condition. Her parents were non-consanguineous, and healthy in their 60′s. She had no siblings, and one son aged 12 who was healthy with normal development.\nHer initial neurologic examination indicated normal cranial nerves, normal motor tone, bulk, and reflexes, and grade 4 MRC weakness in neck flexors, deltoid, biceps, triceps, hip flexors and abductors bilaterally, with normal strength in other muscle groups. Coordination and sensory examinations were normal. A myositis antibody panel including HMG-CoA-R and SRP antibodies were negative. EMG and nerve conduction studies were normal. Muscle biopsy of vastus lateralis was largely non-specific and unremarkable, with no inflammatory cell infiltrates, but possible rare regenerating myofibres.\nOn speculation that the patient may still have an immune-mediated myopathy, she received a trial of therapy with intravenous immunoglobulins and prednisone, followed by a trial of rituximab, which did not result in any improvement. Her cyclosporine was switched to tacrolimus which similarly did not provide any improvement.\nShe was followed clinically and 2 years later her exam had deteriorated. She had developed scapular winging bilaterally and had atrophy developing in limb girdle musculature. Weakness had become MRC grade 4 in shoulder abduction, elbow flexion/extension, and knee flexion; MRC grade 2 strength was present in hip abductors/extensors. Given this change and a lack of clear diagnosis she was re-investigated, including a second muscle biopsy which was again inconclusive, with minimal myofibre size variation and occasional atrophic fibers. Dystrophin immunohistochemistry was normal. MRI of the upper legs showed fatty infiltration of posterior hamstring muscles with relative sparing of anterior leg compartment, iliopsoas, hip flexors ().\nA review of prior records identified an elevated CK of 890 U/L from prior to her onset of muscle symptoms, raising the question of a possible pre-existing genetic muscle disease. That CK elevation was recorded when she presented for investigation of chest pain, although ultimately her cardiac workup (troponin, ECG, and echocardiogram) had returned normal. A repeat CK level 2 days later had decreased to 510, but was still elevated (reference range <190U/L). At her initial presentation with myopathy symptoms, her CK level was 813 U/L, and subsequent measurements fluctuated from 834 to 1,522 U/L in her first year of these symptoms. In her second year of myopathy symptoms, the CK enzyme level ranged from 720 to 2,571 U/L. In both years she had received the above-mentioned immunosuppressive therapies, which did not result in clinical improvement or reliable reductions on CK levels. After discontinuation of these therapies her CK enzyme levels did not significantly change, and her most recent CK levels ranged from 672 to 1,835 U/L.\nTesting with a genetic sequencing panel for 78 genes () associated with myopathy identified a heterozygous variant of unknown significance in DMD [c.3028G > GC, predicted to cause p.(Ala1010Pro), and listed in dbSNP as rs766325631], although testing had been performed on DNA isolated from blood, due to a test ordering error. Chimerism studies in the patient's blood revealed 100% chimerism for the second BMT donor, indicating that this variant actually originated from the second donor. |
A 76-year-old man with history of ischemic cardiomyopathy and paroxysmal atrial fibrillation who underwent a Dual-Chamber Medtronic Implantable Cardioverter-Defibrillator (ICD) placement 6 years earlier in an outside facility presented to the emergency room with worsening shortness of breath. Initial workup in the emergency room revealed acute on chronic combined congestive heart failure. An AP chest X-ray film was interpreted by the radiologist as cardiomegaly with pulmonary vascular congestion and satisfactory ICD lead position (Figure ). No lateral view was obtained at the time.\nBedside Echo showed severely reduced left ventricular systolic function with dilated right ventricle and moderate-to-severe pulmonary hypertension. Surprisingly, the ICD lead was clearly going from the left atrium through the mitral valve to the left ventricular cavity (Figures , , and ). A lateral chest X-ray view revealed that the ICD shock lead tip is directed posteriorly, indicating its presence in the left ventricular cavity (Figure ). A transesophageal echocardiogram showed the ICD lead went from the superior vena cava to the right atrium, crossing through a small sinus venous atrial septal defect to the left atrium, and into the left ventricular cavity via the mitral valve. Luckily, the patient was on chronic anticoagulant because of chronic atrial fibrillation, so no thromboembolic complications were reported. Interestingly enough, the patient had two prior trans-thoracic echocardiograms that were interpreted by the same cardiologist without mention of abnormal ICD lead placement. Furthermore, prior ICD interrogation reports from his primary cardiologist showed chronically elevated shock lead impedance but pacing threshold and sensing were good. No therapy was needed since device implantation.\nBecause extraction of a chronically implanted ICD lead carries a high risk of major cardiovascular complications (2%-4%) including vascular injury, cardiac perforation resulting in cardiac tamponade, and occasionally thromboembolic complications or even death, and because the patient was chronically anticoagulated, the decision is made to continue conservative management. |
A 55-year-old male with a known case of hypertension under regular treatment presented to the casualty department with complaints of swelling of the penis for the preceding two weeks, burning micturition for the preceding 10 days, and inability to pass urine for the preceding two days. He also had lower abdominal pain for two days which was the colicky type with no history of genital trauma. He had a history of inability to retract prepuce for 10 years with multiple episodes of burning micturition for the last one year. He had no fever spikes, reduced urine output, high colored urine, haematuria, and pyuria. He had complaints of obstructive lower urinary tract symptoms including straining, hesitancy, and post-void dribbling for the past one week. He had no significant history of any previous surgeries in the past. He denied a history of any sexual promiscuity in the past. On examination, he was conscious, oriented, and febrile with no signs of dehydration. His pulse rate was 104 per minute with a blood pressure of 140/90 mm Hg. He had lower abdominal tenderness without a palpable bladder. Local examination revealed phimosis with a stony hard swelling over the glans penis under the prepuce with no visualization of the urethral meatus. Penile and scrotal edema were present with bilateral testes palpable and non-tender. He had enlarged tender bilateral inguinal lymphadenopathy.\nThe initial clinical impression was balanoposthitis with underlying carcinoma of the penis considering his age of presentation. Preputial calculus was also considered as a differential diagnosis in view of the hard consistency of the swelling. X-Ray of the pelvic region showed a radiopaque shadow in the glans region (Figure ). Ultrasound of the abdomen was done to rule out urolithiasis. Its findings included mucosal irregularity of bladder suggestive of cystitis with no associated renal calculi or hydroureteronephrosis. His creatinine and total white blood cell count were within normal limits and his urine culture was sterile. On the day of admission, cannulation with an infant feeding tube through the meatus was attempted. Finally, a dorsal slit was performed followed by catheterization with a Foley’s 12 Fr catheter. A single stone of size 4.5 cm x 3 cm (Figure ) was removed from the preputial space. He was started on intravenous ciprofloxacin and metronidazole empirically in view of the clinical diagnosis of balanoposthitis. His wound was debrided and dressed regularly with Eusol. Penile and scrotal swelling gradually subsided with the local application of magnesium sulfate. Foley’s catheter was removed and the patient started passing urine freely from the urethral meatus. The patient was better symptomatically and was discharged on the seventh day. |
A 19-year-old Turkish mother in her fourth pregnancy was admitted to our institute with an ultrasound report suggestive of dilated small bowel loops at 24 weeks of gestation, which was followed up in the department of maternal fetal medicine with a pre-diagnosis of fetal bowel obstruction. The mother’ s previous obstetrical history was uneventful. There was no relationship between the parents. Repeat ultrasonography revealed a segmental distended bowel, with preserved motility and vascularization. There was no evidence of fetal anemia, and the amniotic fluid index was within the normal range. Jejunal atresia was considered as the first differential diagnosis in the fetus.\nAt 38 weeks of gestation, the mother underwent a planned cesarean section due to a history of previous cesarian section. A Turkish male child weighing 3600 g was delivered, with APGAR scores of 8 and 10 at 1 and 5 minutes, and pulse, blood pressure and temperature within normal ranges. The baby was immediately transferred to the intensive care unit under pediatric surgery. An infant feeding tube was secured in place. Bilious drainage from a nasogastric catheter was detected. On physical examination, the patient was alive and active. The abdomen was soft and had minimal distention. Neurological examination was normal. Septic findings were not observed in the patient. Laboratory values of the patient were within the normal range. An initial complete blood count revealed no anemia or leukocytosis, with hemoglobin of 15.2 g/dL, platelet clumping with a normal count (221,000/uL) and white blood count of 16,200/uL. There was no meconium output in the follow-up. In radiological evaluation, there was no distal gas passage on the abdominal X-ray, and air–fluid levels suggested proximal obstruction (Fig. ).\nThe patient underwent surgery on the first postnatal day. In laparotomy, it was observed that the small intestine was rotated two full cycles from the mesenteric root (Fig. ). Bowel blood circulation was good. Volvulus was untwisted. There was a significant difference in diameter in the small bowel segment approximately 20 cm distal to Treitz. No atresia was detected. It was thought to be due to Ladd’s bands compression (Fig. ). There was malrotation. A Ladd's procedure was performed. The patient was started on oral feeding on the first postoperative day. There was no problem in follow-up. He was discharged on the seventh postoperative day with full oral feeding. The patient is still in the first postoperative year, and the follow-up has been uneventful. |
An 85-year-old woman bedridden for spinocerebellar degeneration was transferred to our hospital with high fever and dyspnea. She was diagnosed with aspiration pneumonitis and, accordingly, antibiotics therapy was administered after emergent hospitalization. After 2 weeks, she presented edema in her bilateral lower limbs with an elevated D-dimer level (57.4 µg/mL). We suspected DVT since immobility is one of the risk factors associated with DVT. The subsequent US analysis revealed bilateral DVT from the inferior vena cava (IVC) to the popliteal vein (PopV), which filled the vessel lumen from the level of the common femoral vein (CFV) to the iliac vein (IV) (). shows that the features of US appearance of thrombus such as echogenicity and mobility were equivalent in both limbs, except for the mode of the GSV flow pattern. While the patient’s left GSV flow was antegrade, the right was retrograde. After 1-month heparinization, US analysis revealed recanalization in the left DVT but not in the right.\nThis finding led us to focus on the GSV flow pattern in patients with acute occlusive proximal DVT and to investigate whether the GSV flow into the CFV could be an essential sign of DVT recanalization.\nWe retrospectively evaluated patients with acute DVT that was considered ultrasonographically occlusive, and who presented from May 2006 to March 2017. The inclusion criteria were as follows: (a) DVT at a site from the superficial femoral vein (SFV)/PopV to the CFV/IV; and (b) the conduction of a follow-up examination by US at approximately 2 months after initial diagnosis. We excluded patients who had no follow-up US, had no thrombus at sites from the CFV to the SFV, or absence of data on the GSV flow pattern in the medical record. This study was approved by the Institutional Ethical Committee and was performed in accordance with the guidelines present in the Declaration of Helsinki version 2008.\nTo semiquantify thrombus echogenicity, we graded low, intermediate, or high echogenic appearance as 0, 1, or 2, respectively. While low-to-intermediate echogenicity was graded as 0.5, intermediate-to-high was graded as 1.5. The recanalization of thrombus was defined as diameter reduction to lower than 40% of the vessel diameter by US, which is similar to the definition for residual vein thrombosis, a known risk factor associated with recurrent thrombotic events. The assessment of the thrombus recanalization covered the entire scannable area from the IVC to the PopV as long as possible.\nIn this study, all patients were categorized into two groups based on whether or not the GSV flow toward the CFV across the thrombus was detected by color Doppler imaging. shows representative GSV ultrasonograms. The presence/absence of the GSV flow into the CFV was determined using US; the GSV flow into the CFV (flow [+] pattern) was defined as the detection of flow from the GSV toward the CFV across the DVT site, even if it was diminutive. In contrast, the flow (−) pattern signified absence of flow from the GSV into the CFV or reversed from the CFV to the GSV, even if no thrombus was detected in the GSV (in such cases, the GSV flow entered the collateral veins rather than the CFV). All patients were treated with anticoagulants and were fitted with compression stockings. The standard regimen of anticoagulation therapy includes an intravenous bolus injection with 5,000 U of unfractionated heparin (UFH), followed by continuous intravenous infusion targeting 1.5–2.5 times the upper limit of activated partial thromboplastin time (APTT). Then, we replaced UFH with warfarin targeting prothrombin time-international normalization ratio (PT-INR) of 1.5–2.5 or direct oral anticoagulants.\nData were summarized as mean±standard deviation or median (interquartile range) for continuous variables or percentages. The two groups were compared using the unpaired two-sided Student t-test for continuous variables or the χ2 test (Fisher’s exact test) for categorical variables. We used EZR software for statistical analysis.\nIn this study, we included 10 flow (+) limbs and 10 flow (−) limbs. presents the comparisons of characteristics between the two groups. The rate of IVC filter implantation was high because of the background characteristics of proximal DVT. We did not find any differences in background factors (e.g., age, sex, lesion site, thrombus echogenicity, follow-up period, or cancer prevalence) or laboratory data (e.g., D-dimer levels at the initial diagnosis or APTT on treatment). However, we determined that DVT demonstrated recanalization in seven limbs of the flow (+) group, whereas recanalization of DVT was not observed in any limb of the flow (−) group. Notably, the comparison of D-dimer levels at 2 months did not present significant differences between the two groups (5.5 µg/mL for the flow (−) group vs. 2.8 µg/mL for the flow (+) group, respectively; P=0.32). The incidence rate of PTS during the first 6-month period was 50% (3 of 6) for the flow (−) group and 25% (2 of 8) for the flow (+) group, although the difference was not noted to be statistically significant. |
A 48-year-old man with noticeable scoliosis was admitted to our hospital because of neck pain for 1 month without obvious inducement. The pain radiating to bilateral shoulders continuously existed, and occasionally it was accompanied by numbness of the left face. Other symptoms such as nausea, vomiting, dizziness, limb weakness, or defecation dysfunction were not apparent in this patient. In his history, the patient complained of left tinnitus since he was more than 10 years old which was aggravated in the latest 5 years. Head magnetic resonance imaging (MRI) and a series of examinations in otorhinolaryngology didn't find the cause of tinnitus. Thoracic scoliosis was noticed when the patient was about 20 years old and it has become more severe in the past 10 years. There was no similar case in the patient's family. Physical examination showed numerous café-au-lait spots and dermal neurofibroma together with severe thoracic scoliosis ().\nChest X-ray confirmed the existence of thoracic scoliosis (). Cervical T2-weighted MRI showed a syringomyelia existed in the spinal cord from C5 to T2 () and a hypointense signal lesion extended from C2 to C4 which was located in the cervical canal and in front of the left cervical spine, compressing the cervical nerve root (). The flow void signal of the lesion suggested it might be a vascular lesion. Further cervical computed tomography angiography (CTA) illustrated a complicated AVF at the level of C2-C6 with enlargement of the C2-C4 intravertebral foramen (). From the original images of CTA, multiple fistula orifices could be identified ().\nDiagnostic angiography was performed via the right femoral artery. The aortic was extremely tortuous. Angiography showed a large AVF with multiple fistula orifices located in the left C2-C6 level of the vertebral artery (VA) (). The fistulae were fed by the proximal antegrade flow of left VA and distal retrograde flow of right VA (), and it was eventually drained to the external jugular vein through the vertebral and paravertebral venous plexus.\nConsidering the persistent symptom being related to AVF, endovascular treatment was indicated. The procedure was conducted via a bilateral radial artery approach. Two Echelon-10 microcatheters (Medtronic Co. Minneapolis, USA) were placed in the biggest venous in C2-C4 via the upper fistula, and then six coils (Medtronic Co. Minneapolis, USA) were detached followed by injection of 6 ml Onyx 18 glue (Medtronic Co. Minneapolis, USA). However, the AVF was still existing after proximal VA angiography, indicating other fistulas also should be occluded. Then 3 more coils were placed in the V4 segment of the left VA to block the retrograde flow from the right VA. After that, 21 coils plus onyx 18 glue were injected into the C2-C6 segment of the left VA. After coil embolization step by step, the lower fistula orifice could be identified (). Finally, the AVF fistulas together with the left VA was occluded (). Angiography through the right VA showed a well preserved left posterior inferior cerebellar artery and null retrograde flow into the AVF ().\nThe patient reported an improvement of neck pain and experienced no further neurologic deficits. Dramatically, the symptoms of tinnitus that bothered the patients for more than 30 years also improved significantly after the operation. Follow-up angiography performed 6 months later confirmed no recurrence of the AVF. And the patient was still free of symptoms till the latest follow-up.\nThe proband genome DNA was extracted from venous blood using a Qiagen Mini Blood kit (Qiagen, Hilden, Germany) during follow-up. Whole-exome sequencing was performed using next-generation sequencing (NGS) and sanger sequencing was used to validate the results.\nWhole-exome sequencing identified a novel germline heterozygous point nonsense mutation, c.G397T(p.E133X), in the NF1(NM_000267) gene exon4. Database (). The stop codon mutation is predicted to be functionally deleterious by in-silico software tools. Our finding was further supported by the conservative analysis across species. Rare variants of interest were classified for pathogenicity using the American College of Medical Genetics and Genomics guidelines. |
A 38-year-old male patient reported to the department of periodontology with the complaint of whitish discoloration in the lower left back tooth region. The patient first noticed the discoloration 1 year back which gradually attained its present size in due course. Family and medical histories were noncontributory. The patient had a history of taking both smoke and smokeless tobacco for the past 17 years. The patient smoked 8–10 bidies per day. He used to chew gutkha once or twice daily on an occasional basis. Clinical examination revealed irregular keratotic growth on the gingival and alveolar mucosa extending anteroposteriorly from the mandibular right central incisor to the mandibular left second molar [Figures and ]. Growth was nontender, sessile, moderately firm in consistency, and without bleeding on provocation. On the basis of history and clinical examination, the lesion was diagnosed as oral leukoplakia. Surgical excision of the complete lesion was performed. A small portion of the lesion (0.8 cm × 0.5 cm) from a single site was sent for histological examination. Histopathology of the excised specimen revealed hyperkeratosis with few foci of mild dysplastic cells.\nThe patient was followed up every 6 months. At 6-month follow-up, recurrence was observed on the marginal gingiva of the left mandibular first and second premolars []. Complete excision of the lesion was planned, but the patient denied treatment. At 1 year follow-up, no new recurrence or lesion was observed.\nOne and half years after the surgery, another new recurrence was noticed on the gingiva in relation to the mandibular left lateral incisor and canine regions, with appearance similar to speckled type of leukoplakia []. Regional lymph nodes were not palpable. Panoramic radiographic view revealed no loss of bone in the regions of 32 and 33 []. The lesion was excised [] and sent for histopathological examination. Histopathology revealed moderately differentiated squamous cell carcinoma (SCC) []. The periodic acid–Schiff-stained section confirmed the breach in continuity of basement membrane with few keratin pearls []. |
A 50-year-old man suffered a seizure, which was witnessed by bystanders, while walking on the street. The patient became unresponsive and the bystanders performed CPR at the scene. Emergency services arrived 10 min later; however, automated external defibrillator did not work. The emergency personnel commenced CPR and the patient arrived at our hospital 20 min following seizure onset. By the time the patient presented to the emergency department, he was unresponsive, apnoeic and areflexic with a Glasgow Coma Scale score of 3. He had no medical history and took no medications. ECG revealed asystole. Ten minutes after presenting to the emergency room, 1 mg epinephrine was intravenously administered and the patient experienced return of spontaneous circulation (ROSC). The patient was emergently intubated. Blood test revealed haemoglobin level of 14.6 g/dL and haematocrit (Ht) level of 44.2% at arrival. No coagulation abnormalities were observed. ECG revealed ST reduction of the precordial leads and ST elevation in aVR inductionafter resuscitation. The patient was diagnosed with cardiac arrest due to acute coronary syndrome. FAST was not administered this time. A CT was ordered; however, the patient exhibited ventricular fibrillation and was moved to catheter room.\nThe patient underwent emergency catheter examination and percutaneous coronary angioplasty under percutaneous cardiopulmonary support (PCPS), which revealed 90% obstruction of the anterior descending branches. He exhibited ROSC and was admitted to the ICU after intra-aortic balloon pumping (IABP); subsequently, his blood pressure decreased. ECG revealed normal cardiac contractile forces outside the anterior descending branch areas. The patient continued to exhibit abdominal distention and decreasing Ht. This time we performed FAST, which revealed echo-free space around the liver and the spleen. Contrast CT examination revealed bloody ascites around the liver and the spleen, and we diagnosed intra-abdominal bleeding. A linear contrast effect was observed in the vicinity of the hepatic sickle ligament in the early phase of the contrast (). We diagnosed liver haemorrhage because the contrast effect was recognised as late contrast phase (). There was no apparent damage in the liver parenchyma. Conservative treatment was chosen because there is no indication of apparent liver parenchymal damage, and the patient’s blood pressure increased following transfusion. |
A 71-year-old male patient had several operations after the diagnosis of gastric cancer. The first operation was laparoscopy assisted total gastrectomy with R-Y esophagojejunostomy 6 years ago. Because of anastomosis leakage after initial operation, he received esophagostomy and feeding jejunostomy, followed by esophageal reconstruction with right colon interposition. He consecutively had colon infarction requiring esophagostomy and feeding ileostomy. Four years later he received esophageal reconstruction with left colon interposition, followed by cervical esophagocolojejunostomy, which made his oral feeding possible. He is an ex-smoker, and had chronic obstructive pulmonary disease requiring regular use of anticholinergic inhaler.\nHe initially presented with purulent sputum for several days, and admitted to medical ward for 2-week antibiotic treatment against community-acquired pneumonia. The initial chest computed tomography (CT) scan after the admission showed pneumonic consolidation at right lower lung. Although it also revealed the dilatation of interposed colon compressing the trachea and heart, the patient did not complain any symptoms associated with compression. After completing treatment, he was transferred to the surgery department for feeding jejunostomy because of recurrent episodes of aspiration during hospital stay. However, he restarted to have purulent sputum and eventually had respiratory failure requiring mechanical ventilation in the intensive care unit (ICU). The chest CT scan after admission to the ICU () showed pneumonic consolidation at both lower lungs and massive dilatation of the substernal interposed colon compressing the trachea. We believed that continuing silent aspiration of secretion caused aspiration pneumonia, and compromised airway hindered expectoration of sputum leading to respiratory failure. Antibiotic treatment against hospital-acquired pneumonia was started.\nAlthough percutaneous dilatational tracheostomy was performed for long-term airway maintenance, he again suffered from respiratory distress and was re-intubated. A series of the chest CT scans was reviewed among intensivists, pulmonologists, thoracic surgeons, and radiologists in order to manage the dilatation of the interposed colon compressing the trachea. The dilated interposed colon was originated from the right colon, which was sequestered after the recent esophageal reconstruction with left colon interposition resulting blind pouch at both ends. It has been increasing its size slowly but progressively. The dilatation of the interposed colon was treated with CT-guided pigtail catheter drainage via right supraclavicular route (). It was left in place for 2 weeks, and then removed once the output was diminished to less than 10 mL per day. The patient remained well clinically, and was discharge home. |
In 2010 a 75 year-old female patient presented at our clinic with a 2-year history of pain and recent emergence of a discharging sinus at her left upper leg. She had a history of bilateral gonarthrosis and underwent elective right and left knee total arthroplasty 5 years before. The procedures and the post-operative follow-up were uneventful. Her physical examination revealed slight swelling and tenderness with a mild seropurulent discharge on the antero-lateral aspect on her proximal left leg. There was no other systemic complaint. Her personal and family histories were unrevealing. There was no history of fever, trauma, previous tuberculosis or bone tumors. Lower limb x-rays were performed and the radiographic examination revealed a well demarcated cystic structure in her left tibia, 4 cm below the distal tibial component of the knee arthroplasty (). A purulent sample was collected and sent for microbiological study, after which, to better investigate the nature of the cyst, an incisional biopsy of the lesion was performed, and the sample subjected to histopathologic examination. The laboratory study isolated Pseudomonas aeruginosa, and appropriate antibiotics where then administered according to the susceptibility test carried out. Pathology results revealed hydatid cyst of the tibia. Segmental resection was planned, and the surgical approach revealed a diaphyseal cyst adherent to the surrounding tissues, which were markedly oedematous, with multiple membranous whitish tissues in aggregation. Fluid was aspirated from the cyst, and the sample was sent for microbiology and serology tests. After curettage of the lesion and power-pulse lavage, povidone-iodine-alcohol solution was injected. Due to the fragility of the remaining tibial diaphysis, an external fixator was applied. Microscopy confirmed the diagnosis and revealed osseous tissue with hyaline and germinative membranes, lymphocytes, and monocytes.\nAlbendazole and praziquantel, antihelminthic drugs, at doses of 10 and 25 mg/kg, respectively, were started. The patient recovered uneventfully and was discharged shortly after the procedure. She was clinically and radiologically evaluated in the following months, revealing progressive bone growth, remodeling and consolidation, having the external fixator extracted 6 months after the initial procedure.\nThe patient then remained exempt of pain, swelling or other complications, until May 2014, when suddenly she comes to our clinic, complaining of pain and unable to bear weight on her left knee.\nX-ray studies revealed a pathologic periprosthetic fracture, below the tibial component, resulting from an extension of the previously treated hydatic cyst (). A treatment plan was performed, and our patient underwent surgical intervention. Both of the total knee arthoplasty components exhibited signs of loosening (), and after extraction of them, a total revision knee arthroplasty was performed (). The cancellous bone loss in the tibial component was considerable, and this defect was addressed by autologous bone graft implemention around the tibial stem and plateau. The patient functional outcome was excellent. She recovered motility of her left knee, and now more than 24 months has passed and she is fully weight bearing with no pain, knee instability or discomfort. |
A 32-year-old english-speaking right-handed intoxicated Irish male presented following a fall onto a concrete path with a GCS score of 9/15. Both pupils were equal and reactive to light. His blood alcohol levels were 383 mcg per litre, which clouded the clinical picture (a serum alcohol level >80 mcg per litre is equivalent to 2 units of alcohol). His vital signs were within normal limits. He had multiple facial abrasions and a soft tissue swelling on the left occipital region and blood was seen emanating from his left ear. Auroscopy revealed haemotympanum. He was commenced on prophylactic intravenous antibiotics. CT brain () demonstrated a haematoma of the left frontal, temporal and parietal lobes superimposed upon a previous haematoma along with subarachnoid extension with slight midline shift to the right and evidence of air in the posterior cranial fossa. The National Neurosurgical Centre recommended supportive therapy and serial clinical assessments. The following morning his GCS deteriorated to 7/15 and he was intubated and ventilated. A right-sided hemiparesis was noted. His pupils and haemodynamic parameters were unchanged. A follow-up CT brain was unchanged. He was transferred to National Neurosurgical Unit in view of this clinical deterioration. A craniotomy was performed with evacuation of the temporal lobe haematoma and insertion of an intracranial pressure monitor. He was extubated on the 14th postoperative day and initially obeyed commands. He returned to our institution for further rehabilitation. Initially he had features of a motor aphasia (Broca's). He was able to respond nonverbally by blinking his eyelids. Assessment of auditory comprehension was difficult but appeared intact. As his clinical condition improved his expressive capabilities improved but did not fully recover. After 12 weeks he successfully made his first verbal response. He was transferred to the National Rehabilitation Centre. At 3-month follow-up he had ongoing circumlocution and reported difficulty with reading and writing. He reported persistence of posttraumatic amnesia. His mobility problems related to hemiparesis had resolved and he was independent in all activities of daily living. |
A 44-year-old Caucasian woman presented with a soft, painless, nonpulsatile, progressively enlarging mass at the level of the antecubital fossa of the left arm. A preliminary ultrasound (US) scan revealed an hypoechoic solid lesion along the cephalic vein, and a subsequent magnetic resonance image (MRI) of the arm confirmed a 2×1cm mass with a hypointense T1 signal and a weakly hyperintense T2 signal along the vein, suggesting a granuloma (Figure ). Upon physical examination, the mass was mobile and painless; our patient did not present modification of reflexes of her left arm or signs of venous stasis. Our patient then underwent surgical removal of the neoplasm. Histology confirmed the diagnosis of intravenous EHE, defined as a ‘low-grade malignancy with moderate potential to recur locally or to metastatize’. Unfortunately, surgical margins were microscopically involved, so our patient underwent a second surgical operation: a 2cm segment of cephalic vein with a lozenge of skin was excised and replaced with a graft. The definitive histopathologic report confirmed the presence of microscopic residual foci of EHE, with free surgical margins. Our patient did not show any surgery-related impairment of her left arm functions. A post-surgery US study and MRI scan did not show any residual mass, while a total-body positron emission tomography-computed tomography (PET-CT) did not show any metastatic disease to regional lymph nodes or distant sites. Our patient was then referred to our radiation oncology unit. In consideration of the presence of microscopic disease foci in the second operation specimen and the considerable potential of local relapse highlighted by the pathologist, our patient underwent RT 4 months after the last surgery. A total dose of 54Gy in 27 fractions was administered with a single 6×6cm field. An 8MeV electron beam was used. Only a mild acute erythema of the irradiated skin was recorded as acute toxicity. During follow-up, our patient underwent MRI or ultrasound scans of the left arm every 6 months and computed tomography (CT) of the thorax and hepatic ultrasound scans every year. Five years after completion of the RT, our patient is alive with no evidence of recurrent or metastatic disease. She presented a Radiation Therapy Oncology Group (RTOG) grade 1 late toxicity in the irradiated skin (pigmentation changes). |
We describe the case of a 56-year-old female who complained of swelling over the right side of forehead for 15 days. Magnetic resonance imaging (MRI) brain showed lytic lesion involving left frontal bone with erosion of inner and outer tables suggestive of plasmacytoma. Laboratory work-up revealed an elevated β2-microglobulin level of 3018 ng/ml, raised kappa-lambda ratio- 29.640 and presence of multiple myeloma band. Bone marrow examination confirmed the diagnosis of plasma cell neoplasm with 42% plasma cells. Under the suspicion of MM, the diagnosis was proved histopathologically by specimen from tumour attached to the dura that revealed hypercellular marrow with increased plasma cells. Diagnosis of MM, stage III (International Staging System) was made. Further work-up with FDG PET/CT imaging demonstrated multiple hypermetabolic lytic osseous lesions suggestive of mitotic osseous involvement.\nSix cycles of Inj. Bortezomib 2 mg weekly along with Inj. Dexamethasone 40 mg weekly, and T. Thalidomide 100 mg (VTD regimen) were administered. She came to our hospital 1 year after the first treatment with relapse of MM. At this time, she was treated with 4 cycles of VTD regimen and achieved complete marrow remission. Further plan was to proceed with the HSCT.\nHowever, just before her planned transplant date, she developed weakness of both lower limbs, low backache which progressed to difficulty in walking over a couple of days. MRI Brain showed two lobulated extra-axial dural based soft tissue lesions in left frontal and parietal regions measuring 47 x 15 mm and 10 x 8 mm, respectively with perilesional edema. Whole spine screening showed diffuse altered signal intensity of all visualized vertebrae with ill-defined focal lesions and a soft- tissue component at the S3 – S5 level in the presacral region, extending into the left S3 and S4 neural foramina. There was similar soft tissue component in the left paraspinal region on left side at S1 level and in right paravertebral region at D7 vertebral level, measuring about 25 x 14 mm. There was thin enhancing epidural soft-tissue mass (approx. 5.7 mm) at the L5 - S1 level causing mild spinal canal compression with possible minimal extension along the neural foramina ( & ). In addition, her physical examination revealed a 2 x 2 cm deposit in the left hypochondrium. This was histologically confirmed as plasmacytoma (extramedullary relapse of MM). There was no evidence of clonal plasma cells in the marrow or monoclonal (M) serum protein. Palliative radiation therapy was applied to dural-based lesions in the left fronto-parietal region, presacral lesion and left pelvis by 3-dimensional conformal radiation therapy (3DCRT) to a dose level of 4500 cGy in 25 fractions. |
This is the case of a 58-year-old female who is a known diabetic and hypertensive presented with a 9-month history of a pea-sized right breast lump. The lump was painful and it had recently increased in size. She was menarche at 15 years, had five children, and all of them were breastfed. The patient had a hysterectomy 20 years ago for fibroids and she never used oral contraception or hormone replacement therapy. She had no family history of breast or ovarian cancers and was otherwise fit and active. On examination, she was found to have a 6cm x 4cm lump in the upper inner quadrant of her right breast at the 2 o’clock position which was firm and mobile with no palpable lymphadenopathy. There was no obvious nipple discharge or skin changes. Her left breast examination was normal. Ultrasounds of her breast showed a 3.6cm x 4.2cm solid heterogeneous hyperechoic mass between 2 and 4 o’clock position in her right breast with no focal or solid lesion seen in the left breast. Bilateral mammograms showed scattered fibroglandularity to both breasts, with an 8.2cm x 5.3 cm well-defined lesion seen in the inner quadrant of her right breast (Figure ) and a 2.5 cm x 1.5 cm lobulated lesion in the left in the lower quadrant (Figure ). The report also revealed that there were bilateral axillary nodes with no adverse features. Core needle biopsies of the right breast lump and stereotactic biopsy of the left breast lump were performed and the histopathological result revealed bilateral benign phyllodes tumor of the breast.\nThe patient consented to bilateral wide local excision of the breast lumps. Preoperatively a guidewire was placed under stereotactic guidance in her left breast to localize the lump (Figure ). The patient had wide local excision of her right breast lump (Figures , ) and a wire-guided wide local excision of her left breast lump. Histology from these lesions showed typical features of a benign Phyllodes tumor with areas of atypical ductal hyperplasia and columnar cytomorphology. There was also marked stromal cellularity with mitotic activity below 2 per ten high-power fields. The resection margins were all negative and the closest margin was 1.5 cm away from the tumor.\nThe findings were discussed at the oncology multidiscipline meeting and started on adjuvant radiotherapy following surgery. She was followed up in a surgical outpatient clinic and noted to have no clinical or radiological recurrence at her three years of follow-up. |
A 75-year-old man with a 2-year history of intermittent chest discomfort, irritation from the left side of the neck, pain when swallowing, and a non-intentional weight loss of 3 kg in the last 3 months, was referred to an ear, nose, and throat specialist due to a suspicion of a tonsillar cancer. A physical exam and a computed tomography (CT) scan of the neck, chest, and abdomen were performed.\nCT revealed a 4.3 × 2.6 × 3.3 cm, round, well-defined tumor with smooth borders in the anterior mediastinum with close relation to the ribs (). A low dose CT scan had been performed 4 years earlier, where the tumor had been overlooked (). Since then it had doubled its size. Positron emission tomography (PET-)CT was performed and showed a mean standardized uptake value of 1.57 with a maximum of 1.89 in the tumor indicating a low risk of malignancy. A thymoma was considered as diagnosis (). A neurophysiological examination was performed due to suspicion of myasthenia gravis, but did not reveal any abnormalities. No laboratory findings could support the suspicion of myasthenia. The tumor was not accessible for CT-guided biopsy and it could not be diagnosed on ultrasound due to poor visualization. Despite the lack of positive laboratory findings for myasthenia, the patient was referred under the diagnosis of myasthenia gravis for surgical removal of the suspected thymoma.\nAt surgery the tumor looked like a benign, cartilaginous mass and not like a thymoma. A right-sided video-assisted thoracoscopic surgery (VATS) procedure was performed and the tumor was biopsied. Frozen sections revealed a benign cartilaginous tumor possibly an enchondroma and the tumor was removed. Final pathology revealed a grade 1 chondrosarcoma and the patient underwent surgery again where a larger area of the thoracic wall was resected.\nA 6-month follow-up magnetic resonance imaging (MRI) scan revealed no signs of tumor. |
The patient was a 67-year-old African-American gentleman who presented to his local community hospital emergency department complaining of an abrupt onset of right arm weakness and dizziness which resulted in a fall with associated head injury. The patient denied specific loss of consciousness or seizure activity. A chest X-ray at his initial evaluation demonstrated a nodule in the left upper lobe. A computed tomography (CT) scan of the brain showed a single left frontal lobe mass with vasogenic edema. CT scans of the chest, abdomen and pelvis revealed mediastinal adenopathy, and two lesions in the left upper lobe, consistent with a primary lung disease. A follow-on MRI of the brain demonstrated a single 2.1 cm enhancing lesion in the left precentral gyrus. A CT-guided fine-needle aspirate of the lung lesion demonstrated small cell lung cancer.\nHe met with a medical oncologist who outlined a treatment plan consisting of systemic chemotherapy followed by radiation to the brain and possibly concurrent radiochemotherapy to the chest. Immediately following his first round of systemic chemotherapy, a staging PET/CT demonstrated two hypermetabolic pulmonary lesions, the largest measuring 3.5 cm, extensive bilateral mediastinal and hilar activity, and a PET-avid right adrenal mass. He completed three cycles of a “programmatic”, locally defined cisplatin and irinotecan regimen with near complete resolution of his right-sided arm weakness. Restaging brain MRI demonstrated interval shrinkage in his single lesion and no further intracranial progression. A chest CT demonstrated a reduction in size of the lung lesions and resolution of the hilar and mediastinal adenopathy.\nPrior to his next planned cycle of chemotherapy, he was seen in the Radiation Oncology Department. His complete history was reviewed, and he was staged with ES-SCLC or Stage IV, T3N2M1 by AJCC criteria []. After a discussion of the risks and benefits, the patient was treated to a C1-whole brain field using opposed lateral fields, angled posteriorly to avoid divergence anteriorly into the orbits using 250 cGy fractions to a total dose of 3,500 cGy. He had an excellent response to his cranial irradiation with subsequent MRI showing complete resolution of the known lesion and no new progression.\nHis PET/CT scan after completion of three cycles of chemotherapy showed resolution of the contralateral hilar disease as well as the subcarinal and adrenal disease. Due to his excellent response and good overall functional status, he was offered thoracic radiation, limited to the remaining PET-avid areas, all of which were confined to his left thorax. His planning CT scan was merged with his postchemotherapy PET/CT images, and the PET-avid areas were contoured as the gross tumor volume (GTV). A 1.5 cm margin was added for clinical target volume (CTV) with an additional 0.5 cm margin to arrive at a planning target volume (PTV). He was treated with an APPA field arrangement using 180 cGy fractions to 6,120 cGy concurrently with three addition cycles of cisplatin and irinotecan. Imaging studies completed near the end of his thoracic irradiation showed no evidence of further disease progression. He continues to do well clinically although he does continue to smoke. His latest imaging studies, a CT of the chest and an MRI of the brain, occurred approximately seven months after completing radiation therapy and showed a stable pulmonary nodule and no evidence of intracranial progression. His current followup regimen is a physical exam and chest CT scan every two months with a brain MRI every other visit. |
A 36-year-old woman developed cardiac arrest following cocaine overdose and was successfully resuscitated. She was intubated and remained comatose for 16 days. She had a complex medical history with multiple admissions for uncontrolled hypertension, diabetes mellitus, asthma, chronic kidney disease, recurrent pericardial effusions, chronic depression, and polysubstance abuse.\nWhen the initial neurological examination was performed after CPR, the patient was intubated and non-responsive to verbal command. She withdrew all of her extremities to pain and had preserved brainstem reflexes. She was diffusely hyporeflexic with mute plantar reflexes. The overall assessment was consistent with hypoxic ischemic encephalopathy with a guarded prognosis. Remarkably, she regained consciousness 16 days later and slowly recovered with minimal residual cognitive impairment and was ultimately discharged to a rehabilitation facility. At discharge, her Mini-Mental Status Examination score was 27/30.\nAbout 3 months later, she noted periodic involuntary movements of both arms and legs precipitated by action. Neurological examination disclosed that she was alert and oriented to person, place, and time, and cooperative. She had a left central facial paresis and was dysarthric. Power testing showed normal strength in both proximal and distal musculature and she had hypoactive stretch reflexes with plantar extensor responses. She was unable to walk due to the myoclonus. Stimuli such as touch, sounds, and startles all triggered myoclonic jerks that disappeared with relaxation.\nAn electroencephalogram was performed and was normal with no evidence of paroxysmal activity suggestive of seizures. Cranial magnetic resonance imaging (MRI) showed multiple chronic cerebellar infarcts, larger on the right than the left (). Brain single-photon emission computed tomography (SPECT) showed an area of decreased activity in the right cerebellum but was normal and symmetrical in the cerebrum ()).\nBased upon her clinical examination and investigations, LAS was diagnosed. She was treated sequentially with clonazepam 0.5 mg daily, divalproex sodium 250 mg twice daily, and baclofen 10 mg three times a day for 12 weeks, with no improvement of her symptoms. These were the maximal doses that she could tolerate for each medication prescribed without developing unacceptable side effects. |
A 29 year old white female, with a history of alcohol abuse, presented to Accident & Emergency with a twelve hour history of haematemesis following an alcohol binge. On admission she was haemodynamically unstable and had evidence of recent upper gastro-intestinal (GI) blood loss. Her blood results revealed hepatic impairment with undetectable Paracetamol levels. She subsequently stabilised and an upper GI endoscopy was performed revealing haemorrhagic gastritis. It was an unremarkable procedure, performed with 5 mg of Midazolam as a sedative and no topical anaesthetic. Throughout the procedure, the patient was fully cooperative and no therapeutic procedure was needed.\nWithin two minutes of the endoscope being removed, the patients’ upper face and eyelids began to swell. There was no stridor at any time. Within 5 minutes, the patient complained of being completely blind. An urgent ophthalmic review documented a vision of no perception of light (NPL) in the left eye and perception of light (PL) in the right. Her pupils were both fixed and mid dilated. A severe global restriction of eye movements with severe proptosis was also noted.\nAn urgent CT head/orbit was performed revealing no evidence of retrobulbar haemorrhage, but marked oedema of the superficial tissues of the upper face, eyelids and retrobulbar tissues. The patient was given IV antihistamine (10 mg of chlorphenamine) and 200 mg of IV hydrocortisone, both slowly administered. The following day, the swelling and proptosis began to subside with a decrease in Hertels exophthalmometry from 21 mm to 19 mm bilaterally. Her vision improved to hand movements in both eyes. Five days later the orbital and facial swellings further improved and by the time of her discharge one week later, her vision was 6/12 bilaterally with constricted Goldman visual fields bilaterally. Now, 4 years after the event, her vision is 6/9 bilaterally with full visual fields and no concurrent medical problems. |
A 58-year-old man was referred to a tertiary center for marked psychiatric symptoms and worsening parkinsonism without medical comorbidities. The patient started to exhibit parkinsonism at the age of 46, when he developed generalized slowing and asymmetric resting tremor of the extremities, which evolved to impairments in balance and gait over time. He was diagnosed with Parkinson's disease on the basis of clinical findings and on his response to dopamine-replacement therapy. He was started on an increasing pramipexole dosage up to 1.5mg TID and levodopa (initially at low doses). He had no comorbidities.\nFour years after the onset of symptoms, the patient developed motor complications, dyskinesia, and gait freezing. When the patient was 52 years old, he developed a pathological gambling habit. He had played cards with friends since the age of 20 with occasional, non-significant losses. He would play twice a week, and the gambling habit had never been disruptive. With the worsening of his symptoms, the patient's gambling habits changed. He switched from cards to slot machines and started gambling alone. He would play daily and throughout the night, losing increasing amounts of money. Within a few months, his family's income was compromised.\nAt the same time, the patient developed a stereotypical, unique behavior. He began collecting rubbish and miscellaneous items of litter; his family described the patient as obsessed. He stockpiled trash at home and would collect and assemble different parts of broken machinery. He repeatedly stated that he would "make working things out of the parts collected", and claimed that this work was a potential business. However, the patient never actually fixed any of these devices. He started to spend hours and sometimes days dedicated solely to this behavior. He skipped meals and lost weight. He was partially cognizant of the inappropriateness of his behavior.\nNotably, these impulsive symptoms were not associated with any change in the dosage of pramipexole or levodopa. Neither the patient nor the caregivers regarded the impulsive behavior as being related to the patient's underlying disease, which may explain why the behavior was not reported to his treating physician at the time.\nFive months after the onset of the impulsive behavior, the patient developed psychosis. He had paranoid delusions and became suspicious of his relatives and caregivers. After three months, he started to hear voices that ordered him around. The voices said the patient's mother was a witch and ordered him to kill her. The patient struck his mother with a broomstick and was admitted to a neurology clinic. His treatment regimen was changed; quetiapine was introduced and titrated up to 200mg BID with complete resolution of psychotic symptoms after 2 weeks. After a few months, his daily levodopa dose was lowered from 600mg to 350mg and pramipexole was discontinued. Impulsive symptoms improved significantly.\nLess than 5 months after the patient's treatment was adjusted, he was evaluated at our clinic. The patient reported complete resolution of his gambling, litter-related behavior and psychosis, although his Parkinsonism had significantly worsened. He exhibited no signs or symptoms of depression. His Unified Parkinson's Disease Rating Scale total score was 69/199 (3/16 points in behavior, 10/52 in daily activities, 50/108 in motor symptoms and 6/23 in motor complications), and his MMSE score was 26/30 (he had eight years of formal education). On the verbal fluency test, he was able to name 25 words beginning with a single letter in one minute. On the category (semantic) fluency test, he named 22 animals in 60 seconds. He performed well on the alternating sequences task. No formal neuropsychological evaluation was performed. He showed no signs of cognitive impairment, and his levodopa dosage was titrated gradually.\nAfter a follow-up period of two months, the patient was receiving levodopa at 1100mg/day and quetiapine at 200mg BID. He exhibited marked improvement in his motor symptoms with no sign of re-emergence of behavioral symptoms. |
A 6-year-old boy of average height and weight presented to the ER in 2003 with complaints of repeated vomiting and headache for 1-month. He was a student of a local public school, his past medical history being unremarkable; his immunization status was complete, and there were no known allergies. In family history, the patient's father and uncle (father's brother) were known to have NF2. On physical examination, he was vitally stable. Positive findings included left-sided facial nerve palsy and ataxic gait.\nAfter a series of initial investigations, magnetic resonance imaging (MRI) brain was done. The report described a solid mass arising from the right cerebellar cortex, which was isointense to the gray matter on T1-weighted images and hypo to isointense to the gray matter on T2-weighted images. Postcontrast images showed an intense enhancement, which was almost homogenous. The mass was causing effacement of the fourth ventricles with dilatation of the third and lateral ventricles. The vertical height of the lesion was 4.2 cm; AP dimension was 4 cm, and the transverse diameter was 4.8 cm. There was no evidence of intracranial hemorrhage. Gray and white matter signals of supratentorial brain were within normal limits. No midline structural defect was seen. The differential diagnoses of medulloblastoma or astrocytoma were made.\nThe patient underwent craniotomy and excision of the lesion with the insertion of a ventriculoperitoneal shunt. The histopathology report described a malignant infiltrating tumor present in sheets []. The tumor was composed of small oval to indented basophilic cells, exhibiting nuclear hyperchromasia [Figures and ]. Extensive necrosis [] and karyorrhexis were identified with areas of hemorrhage. Brisk mitotic figures were also seen []. The tumor cells showed positivity for immunohistochemical stain CD 56 []. Focal positivity for immunohistochemical stain glial fibrillary acidic protein was also seen []. Based on these findings a final diagnosis of desmoplastic medulloblastoma was made.\nThe patient underwent metastatic workup which was negative. After discharge, he was kept under close follow-up. Pediatric oncology team was taken on board and after discussing the case at the tumor board meeting, a multidisciplinary approach was taken and both chemotherapy and radiotherapy were administered.\nIn 2003, he was found to have a 1.0 cm × 1.5 cm skin colored nodule on this left forearm, which was excised with histopathology of the lesion revealing benign peripheral nerve sheath tumor.\nIn 2004, during a routine MRI scan the patient was found to have a cerebellar lesion for which he underwent craniotomy and excision of the lesion. Biopsy of the excised specimen revealed postchemotherapy and radiotherapy gliosis. He was then again kept under close follow-up. He complained of vision disturbances in 2006 and after an ophthalmological exam, was diagnosed to have right eye cataract for which he underwent phacoemulsification and insertion of the intraocular lens.\nTill 2010, his routine follow-up MRI scans showed no significant pathological changes. However, in 2010, he again started complaining of vision disturbances and ophthalmological examination revealed right-sided posterior capsular opacification and left-sided cataract. He underwent left capsulectomy.\nOver the span of next 3 years the patient remained well however, in 2013, he was again brought to Aga Khan University Hospital with complaints of headache, vomiting, and gait disturbances. MRI brain showed right superior frontal, inferior frontal, parasagittal and left posterior parietal meningiomas; excision of the lesions was performed.\nConsidering his case history and his family history, a diagnosis of NF2 was considered for him. A neurologist was taken on board; the NIH criterion was applied, and the patient was diagnosed to have NF2.\nAfter the surgery in 2013, the patient has not been reported any symptoms. The follow-up MRI scans have not revealed any positive findings. |
A previously healthy 24-year-old male presented to the emergency department with a head injury after falling 15 feet, and he was admitted with a diagnosis of a TBI to his right lateral frontal lobe. He was monitored for four days in the neurology intensive care unit and then discharged after improvement in symptoms. Three weeks from the initial injury the patient was brought into the emergency department by his family with symptoms like insomnia, atypical aggression, psychosis, and impulsive behavior. Upon arrival in the emergency department, the patient admitted to new onset suicidal and homicidal ideations with a plan to shoot himself and the (illusory) “friend who murdered his family and robbed his home” with a loaded gun in his possession. He admitted that two days prior to re-admission, he had become frustrated upon return to work, had not slept for 26 hours, and began damaging items around his house. He admitted to increased aggression, hallucinations, and paranoid ideations.\nThe patient, accompanied by his mother, denied any previous family or personal psychiatric history. His mother stated his personality had become increasingly impulsive and aggressive since his previous discharge from the hospital. The patient complained of worsening auditory and visual hallucinations, insomnia, headache, and visual floaters. The patient denied nausea, emesis, weakness, gait difficulty, and focal motor defects.\nThe patient had an unremarkable past medical history. Hypertension was diagnosed during his initial admission and he was started on lisinopril for management. Social history included intermittent alcohol and occasional marijuana use. He denied any tobacco or other illicit drug use. He lived with his parents, was in a monogamous relationship with his girlfriend, and worked in the construction field.\nUpon this admission three weeks postinjury, the patient presented with a blood pressure of 152/92 mmHg and a heart rate of 105 beats/minute. He was alert, oriented, anxious, and agitated. His five-digit forward recall was 4/5, and he was able to spell the word “WORLD” backwards and forward. The patient spoke with a normal rate and volume and without aphasia. Speech was coherent and goal-directed. Mood was anxious and affect-constricted. He had paranoid ideations with auditory and visual hallucinations. His heart had a regular rhythm without clicks or murmurs. Lungs were clear to auscultation bilaterally, and he had a soft and nontender abdomen with normoactive bowel sounds. Neurological examination revealed cranial nerves II-XII were intact bilaterally. Patient had 5/5 strength bilaterally without pronator drift. No pathological reflexes were noted.\nUpon chart review, a two-week routine follow-up CT after his initial injury revealed increasing cerebral edema on the right parietal lobe with no increasing mass effect or midline shift (Figure ). It also noted a nondisplaced fracture of the right temporoparietal region that was not commented on prior imaging.\nOn day one of this admission, three weeks postinjury, the patient’s electroencephalography was unremarkable, and an MRI showed several acute/subacute cerebral contusions within the right frontotemporal region; with progression of the temporal lobe contusion (Figure ). It showed mild associated perifocal edema without significant mass effect or midline shift. Four days later, a second MRI of the brain showed no significant changes. A third brain MRI was taken after the patient accomplished a full night’s rest and psychotic symptoms had resolved (Figure ). This MRI showed a persistent dominant focus in the right temporal region that was well demarcated and stable in size. It showed resolving white matter edema and improving post-traumatic foci of altered signal intensity when compared with prior imaging.\nA multi-disciplinary team was consulted which included a hospitalist, neurologist, neurosurgeon, psychiatrist, occupational therapist, physical therapist, and speech therapist. Upon this admission, the patient suffered from fluctuating auditory and visual hallucinations, anxiety, headaches, and agitation. He was started on dexamethasone, valproic acid and lorazepam, which did not alleviate his psychosis. Throughout the hospital admission, the patient reported some insight and memory to these symptoms; yet, he reported being unable to control them. Although he could recall all the events, at times he was unable to differentiate between reality and the hallucinations. Throughout the next week, a new medication was incorporated into his regimen daily to help induce sleep. These medications included high-dose trials of zolpidem, hydroxyzine, quetiapine, and olanzapine. The patient was finally able to accomplish rest with the combination of 20 mg intramuscular (IM) ziprasidone and 2 mg IM lorazepam on the seventh evening. After one night of sleep the patient was alert, oriented, cooperative with normal mood and affect. The following morning postsleep, his hallucinations and psychosis ceased completely. A few days later he was discharged to his home under family supervision with scheduled outpatient TBI rehabilitation to follow. |
The first case is of a 65-year-old Irish woman with a background of schizoaffective disorder, which had been stable in recent years, and a medical history of chronic renal failure, type 2 diabetes mellitus, atrial fibrillation, arterial hypertension, previous stroke with a right arm contracture, and aortic stenosis. For her schizoaffective disorder she was on a risperidone depot and escitalopram 20 mg once a day. She was admitted medically in December 2015 to the MMUH with a urinary tract infection, acute renal failure, and deranged international normalized ratio (INR).\nThe Liaison Psychiatry service was consulted shortly after admission. The family gave a collateral history of low mood in our patient since her brother had become ill 2 months earlier and her dose of antidepressant had been increased a month earlier. On review, she was at her baseline mental state, engaging well in conversation and denying low mood, which was confirmed by the community mental health nurse, to whom the patient was well known. No changes were made to her management.\nA week later the neurology service was asked to review the patient due to altered level of consciousness. On examination she presented with waxy flexibility, negativism, new onset increased tone of her left arm, posturing, and catalepsy. Her mobility had deteriorated, with selective speech, mute episodes, and poor oral intake noted by medical staff over the preceding day. The impression was that she was suffering from acute catatonia. An magnet resonance imaging (MRI) of her brain showed no acute changes. Nasogastric (NG) feeding was established to ensure oral intake.\nThe psychiatry service was again consulted, and acute catatonia was confirmed. She was diagnosed as having schizoaffective disorder with catatonia, as per DSM-5 (Table ). A trial of lorazepam was advised for the treatment of catatonia. The dose was titrated to 3 mg per day. The dose was well tolerated and her mental state improved significantly over the following 2 weeks. She became verbally interactive again and returned to her baseline verbal interaction; her mood was euthymic and tone normalized. She was discharged to her own home at a physical baseline that compared to her pre-admission physical state and had remained so at 6-month follow-up. The likely cause for this episode of catatonia was thought to be her medical deterioration. |
A 27-year-old man presented with repeated paroxysms of palpitations resulting from a rapid wide QRS complex tachycardia. He had a history of an AVB that had been treated by dual chamber permanent pacemaker at age of 20, and had not had any health problems since then. He reports having no palpitation at the time he received the permanent pacemaker. His family history was free of any cardiovascular pathology. The patient was in his normal state of health until approximately 6 months before admission, when he began suffering palpitation and presyncopal attacks. Clinical examination was unremarkable except for his pectus excavatum. On electrocardiogram (ECG), there were vertical spikes preceding each QRS complex, which had left bundle branch block (LBBB) morphology (). This ECG is typical of RV pacing. However, ECG taken at emergency medicine showed incessant monomorphic ventricular tachycardia (VT) with a LBBB/inferior axis pattern (). We planned an emergent catheter ablation to eliminate the frequent episodes of VT caused by electrical storms. During the endocardial electrophysiologic study under the guidance of 3-dimensional electroanatomic mapping using the Carto 3 system (The Carto 3 System, Biosense Webster, Waterloo, Belgium), the earliest ventricular activation signal during the arrhythmia, which preceded the onset of the QRS complex by 43 msec, was obtained from the RV outflow tract (). Activation mapping also demonstrated the arrhythmia focus and its propagation to the other sites of the RV. The classic entrainment with concealed fusion and best post-pacing interval was demonstrated and complete elimination of the VT was finally achieved with radiofrequency catheter ablation at that site. After the successful ablation of that site, a new and brief VT also detected but thought to be non-clinical VT; therefore it was not targeted.\nAfter the procedure and patients stabilization, we could performed transthoracic echocardiography; which was remarkable for the presence of diagnostic features of LV-NC, characteristically including a compacted epicardial layer and a noncompacted endocardial layer that consisted of a prominent trabecular meshwork and deep intertrabecular recesses filled with blood from the ventricular cavity in the apical and mid portions of the LV (, ). LV systolic function was preserved with ejection fraction of 65%. The RV was slightly dilated (RV, 31 mm in parasternal long axis view; RVOT, 41 mm in the parasternal long axis view) with exaggerated trabecular pattern () and mild systolic dysfunction. We could not perform a cardiac MRI (CMRI) due to his previous dual chamber rate-adaptive pacemaker and a endomyocardial biopsy because we estimated that the benefit/risk balance was unfavorable. The ECG taken after a pacemaker interrogation with lower heart rate (30 bpm/min) showed that 2:1 AVB (stars in ) with the epsilon (arrows in ) and negative T waves (). Therefore, it was decided to upgrade the dual-chamber pacemaker to dual-chamber implantable cardioverter defibrillator implantation. At present, this patient is being followed at the outpatient clinic. |
A 70-year-old woman with chronic obstructive pulmonary disease and a hostile abdomen had presented with an asymptomatic 6.5-cm juxtarenal abdominal aortic aneurysm with a 7-mm neck. Open repair was a poor option given her history of open colon resection with subsequent hernia and mesh complications. Preoperative CTA demonstrated an 80° angle at the infrarenal neck and an 80° angle in the opposite direction at the suprarenal aorta. The right and left renal arteries both emerged at a 45° angle relative to the neck and both were downward going. A Cook Zenith Fenestrated graft (Cook Medical, Bloomington, Ind) with two small fenestrations and a scallop was built using a modified centerline to account for the anticipated graft position after insertion. The insertion of Lunderquist wires bilaterally significantly changed the working angles. Using the subtraction spin protocol, the superior mesenteric and renal artery origins were redefined for the fusion overlay. Significant angle variation was observed at the aortic neck and renal ostia from an ∼60° to 37.5° angle (). The gantry angles needed to achieve a perpendicular view of the renal origins according to the new fusion markers also changed significantly from the preoperative measurements by 13° to 20°. After vessel marking and mapping, the Cook fenestrated proximal piece was inserted, and a limited angiogram of the visceral segment revealed marker accuracy; thus, no adjustments were necessary. This significantly aided in graft positioning by facilitating placement slightly superiorly to assist in cannulation of the severe downward going left renal artery and avoiding the need for any additional angiograms through cannulation. The total fluoroscopy time was 80.5 minutes, the total fluoroscopy dose was 3.6 Gy, and the total contrast was 101 mL for this case. At the last follow-up, the patient was >1 year after treatment without evidence of an endoleak and with patent renal artery stents and aneurysm sac shrinkage. |
A 50-day-old boy, a member of a triplet pregnancy, presented with abdominal distension, bile-stained vomiting, and constipation. His condition was preceded by a few days of frequent bowel motion.\nOn examination, the baby was irritable, mildly dehydrated, with moderate abdominal distension, on palpation, the abdomen was tense with a mass and tenderness in the right lower quadrant region. The right testis was not palpable, neither in the scrotum nor in the inguinal region (Figure ). After fluid resuscitation, the patient was sent for basic investigations. A plain supine abdominal radiograph showed distended bowel loops, gasless lower abdomen, and right lower quadrant lucency (Figure ).\nThe abdominal US showed a small amount of intraperitoneal free fluid and a loop of bowel (25 × 16 mm) herniated through the abdominal wall, defect; the defect was (10 mm) in diameter.\nThe decision was made to perform open surgery. An incision was made over a small lump in the right lower quadrant region, cystic fluid containing a sac was found herniated lateral to the rectus abdominis muscle communicating with a peritoneal cavity by a small defect between muscle layers. When the sac was opened, it contained fluid, loops of the small bowel and the right testis. The hernia defect was widened, the healthy bowel reduced, the testis and cord structures separated from the posterior wall of the sac, the sac ligated, after confirmation of adequate length of the testis to scrotum extraabdominaly, a tract created between the right scrotal incision and abdominal incision extraperitoneal, medial to the lower epigastric vessels, and the testis delivered to the right hemiscrotum and subdartos orchidopexy (Figure ).\nPostoperative recovery was smooth. The patient was discharged after 72 hours; a follow-up visit after one week revealed a stable patient, no abdominal distension, and with the right testis was in the right hemiscrotal position, but the scrotal skin showed signs of infection, tenderness, and erythematous changes, the patient was on oral and local antibiotics postoperatively (Figure ). The patient missed follow-up for more than two years, and on the last visit, we found that no right testis was felt in the scrotum, and it was atrophied. |
Fifty-seven-year-old Caucasian female with a past medical history significant for hypertension and recently diagnosed stage IV moderately differentiated distal rectal adenocarcinoma with liver and lung metastasis status post second cycle of FOLFOX palliative chemotherapy 1 week ago was admitted with the primary complaint of hypertensive urgency with a severe headache, intractable nausea and vomiting, and diarrhea. At presentation, her blood pressure was 191/68. Examination did not show any focal neurological deficits. She was alert, awake, and oriented to time, place, and person; cranial nerves II–XII were intact; muscle power was five out of five bilaterally in upper and lower extremities; coordination was intact bilaterally; reflexes were 2+ bilaterally in upper and lower extremities; sensation was intact; and gait was normal. The case was discussed with oncologists who were of the view that symptoms may be due to hypertensive urgency versus BM (which are quite rare for CRC) or possible opiate withdrawal as the patient has been on high-dose opiates for her cancer-related pain. Computed tomography (CT) scan of the abdomen-pelvis did not show any evidence of bowel obstruction. Imaging of the brain would be considered if the patient did not improve with medical therapy. The patient was started initially on IV hydralazine but over the next 8 h patient blood pressure remained uncontrolled despite successive antihypertensives (IV labetalol, PO amlodipine, PO clonidine, IV enalaprilat, transdermal clonidine, IV metoprolol, and eventually IV nicardipine drip), ranging from 185/98 to 230/111. Brain imaging was ordered due to continuous severe headache and refractory hypertension. CT scan of the brain without contrast showed 3.3 × 2.3 × 2.8 cm hyperdense rounded mass in the region of the left cerebellum with surrounding vasogenic edema and a 5–6-mm shift of the posterior midline toward the right. Brain magnetic resonance imaging (MRI) with and without contrast showed left cerebellar lesion measuring 3.6 × 3.2 × 2.9 cm with high T1 signal intensity, low T2 signal intensity, and low gradient echo sequence signal intensity with peripheral and mild internal enhancement, and a significant amount of surrounding vasogenic edema, ipsilateral transtentorial herniation, and obliteration of the fourth ventricle (). After discussion with the patient, the decision was made for urgent neurosurgical resection of the mass and subsequent whole-brain radiation therapy (WBRT). This decision was made as this was a solitary lesion which was symptomatic with a high degree of mass effect and edema in a patient with a good baseline functional status. The patient was started on IV dexamethasone 6 mg every 6 h, and transferred for an urgent neurosurgical intervention at a tertiary care center. The tumor was resected using an operative microscope, and a combination of suction and cautery. Postoperatively patient recovered well from the surgery and was discharged. Patient followed up outpatient and had WBRT in 4 weeks post discharge. On her 1-year follow-up, patient reported no new neurological deficits, and her repeat MRI brain () did not show any recurrence of her metastatic lesion or new metastasis. |
A 24-year-old gravida-3-para-2 at 24 weeks’ gestation was referred to our department for TTTS. Her physical and gynecologic examinations were usual. Fetal examination revealed a diamniotic MC twin pregnancy. The recipient twin was diagnosed as having polyhydramnios and the donor twin had oligohydramnios. The diagnosis of stage 3 TTTS was made on the basis of Quintero Staging system. A negative ductus venosus A-wave was observed in the recipient twin. The deepest vertical pocket was 140 mm for the recipient and 5 mm for the donor twin. The complications and prognosis of TTTS and risks of placental laser surgery were discussed with the family and the patient opted for placental laser surgery. The patient underwent placental laser surgery under local anaesthesia in operating room. On the day of the operation, 100 mg indomethacin was administered due to regular uterine contractions as rectal suppository once a day. Indomethacin administration was continued until postoperative day 2 and the contractions disappeared. On postoperative day 3, an ultrasound examination revealed pleural effusion, ascites, increased nuchal thickness, oligohydramnios, tricuspid regurgitation, and negative ductus venosus A-wave in the donor twin and normal Doppler findings in the recipient twin. A detailed examination of the ductus arteriosus showed ductal narrowing with a transverse diameter of 1.49 mm (<5th percentile) ()(. There was no turbulent flow or aliasing in the ductus arteriosus region and systolic and diastolic velocities were 69 and 6 cm/s, respectively. Although Doppler criteria of ductal constriction were not observed, hydrops was prominent. The indomethacin treatment was stopped. The direction of ductus venosus flow turned to positive on the next day and further examination revealed a 50% increase in the transverse diameter of the ductus arteriosus, and the ductal arch returned to its normal shape (). The tricuspid regurgitation and ascites, and pleural effusion disappeared completely on postoperative days 5 and day 7, respectively. The patient was discharged on tenth day postoperatively. Her antenatal visits were uneventful until delivery. The patient underwent a cesarean section for breech-vertex presentation at 35 weeks’ gestation. Male infants weighing 2200 and 2100 g were delivered. |
An 18-year-old man was injured in a car crash and was transported to the emergency department. On arrival, the patient was suffering from severe respiratory distress. Following initial examination, a chest tube was inserted immediately into the right hemithorax. However, there was a severe persistent air leak requiring a second chest tube. Despite the appropriate chest tube drainage, the patient was still in respiratory distress and tachypneic, indicating a need for intubation. The patient's condition improved clinically after endotracheal intubation. The patient also underwent imaging. Chest radiography showed collapsed right lung (thick arrows), left deviated trachea (short arrows), and shifted heart (narrow long arrows; , Panel A), which was confirmed by computed tomography of the chest (, Panel B). Considering the high-energy nature of the crash, continued severe air leak, and failure of lung expansion with chest tube insertion, a tracheobronchial injury was suspected; the patient was taken emergently to operating room for bronchoscopic evaluation. Upon arrival to the operating room, the patient's saturation precipitously dropped with hemodynamic compromise; therefore, an anterolateral thoracotomy was performed without prepping and positioning. The right mainstem bronchus was completely detached from the carina and the tip of the endotracheal tube was in the mediastinum. Under direct visualization, the tracheal tube was advanced into the left mainstem bronchus with a rapid improvement in hemodynamics and saturations. Then, the patient was positioned for posterolateral thoracotomy, and a posterolateral thoracotomy was performed in line with the previous incision. The right mainstem bronchus was disrupted from the carina with a 1.5-cm stump remaining on the carina, and the rest of it was crushed as far as the origin of the right superior lobe bronchus. Hence, a right superior lobectomy was performed. Thereafter, an end-to-end anastomosis was done between the bronchus intermedius and the carinal stump. The postoperative course was uneventful. A six-month follow up revealed no complications. |
A 60-year-old man (a maintenance employee) presented to our institution with a few years' history of nontraumatic, posteriorly localized throbbing pain in his right shoulder. He also reported a traction injury to the same shoulder a few months ago while he was pulling on a cord trying to start a lawn mower. Since this episode, he was suffering a new, sharp pain in the anterolateral region of his shoulder and was now unable to fully accomplish his work. The patient first presented to our unit about 6 months after this working injury and was diagnosed with a rotator cuff tendinopathy. He was discharged with a reference for physiotherapy, and a follow-up appointment was scheduled 3 months later.\nAt follow-up, the patient was still suffering from his right shoulder despite a well-followed physiotherapy program. He reported a light attenuation in his symptomatology, mainly regarding the anterolateral pain. However, his posteriorly localized, long standing pain was still bothering him. The examination findings were of mild acromioclavicular joint tenderness on palpation. He also had pain at 90 degrees of active shoulder abduction, although his active range of motion was complete in all planes. Neer and Hawkins impingement tests were both positive. The Jobe supraspinatus test was negative for weakness but elicited some pain, and examination of all other rotator cuff muscles was normal. A “Popeye sign” indicative of a long head of biceps tendon rupture was also present on his arm. The neurovascular status of his upper extremity was unremarkable.\nPlain radiographs were within normal limits except for some indirect signs of rotator cuff tendinopathy (). An MRI scan revealed degenerative changes affecting the acromioclavicular joint indicative of a moderate-to-severe osteoarthritis but without significant osteophytes causing impingement on the underlying rotator cuff (). There was also a rotator cuff tendinopathy of the subscapularis and a partial-thickness tear of the supraspinatus tendon, in addition to a long head of biceps tendon rupture. Most notably, the MRI scan revealed a well-circumscribed 6 cm × 2 cm × 5 cm homogenous mass with signal intensity resembling that of fat underlying the posterior deltoid. The mass was in close relation to the infraspinatus and the teres minor and was clearly extending under the acromion. There was no invasion of the tumor into the rotator cuff or into the surrounding tissues. The appearance of the lesion was compatible with a subdeltoid intermuscular lipoma without any radiologic sign of malignancy ().\nThe patient was admitted for surgery. The operation was performed in the beach chair position under general anesthesia. An open distal clavicle resection and acromioplasty was first achieved through a superior incision centered over the acromioclavicular joint. The voluminous subdeltoid lipoma was then excised en bloc with a second incision cutting through the fibers of the posterior deltoid. The lesion was clearly invading the subacromial space at the time of the surgery. The histopathologic examination revealed a benign lipoma without any malignant features.\nAt 6-month postoperative follow-up, the patient was asymptomatic with normal shoulder function and a complete return to his activities. |
A 57-year-old man was evaluated in the emergency room (ER) of our hospital for complains of dizziness and near syncope while walking home earlier that day. He had started feeling generalized weakness and fatigue after he underwent neck surgery for a tonsillar lesion at another hospital 6 months earlier. He also reported unintentional weight loss of 20 pounds over 6 months along with loss of appetite. He denied any loss of consciousness, palpitation, shortness of breath, chest pain, hearing difficulty, headache, vision changes, nausea, vomiting, diaphoresis or fever. He had human immunodeficiency virus infection/acquired immunodeficiency syndrome (HIV/AIDS) with a CD4 count of less than 20. He was non-adherent to the anti-retroviral therapy. He also had chronic obstructive pulmonary disease and was using albuterol and steroid inhalers. His social history was significant for active cocaine abuse. He reported smoking one pack of cigarette per day for more than 35 years. Family history was significant for prostate cancer in father. His surgical records from the previous hospitalizations were obtained and revealed robotic resection of the left tonsil lesion and selective neck dissection 3 months prior with biopsy results showing left tonsillar SCC, P16+, stage T1N3M0. He did not receive any radiation or chemotherapy.\nIn the ER, his vitals were recorded as: pulse of 75 beats/min, blood pressure 125/75 mm Hg with no orthostatic hypotension, respiratory rate of 16 breaths/min and oxygen saturation of 98% on room air. His physical exam was significant for severe cachexia with body mass index (BMI) of 19. Conjunctival pallor was noted. His neck exam showed staples on left side with a clean wound site. He was also noted to have left second toe swelling and tenderness with clammy extremities and adequate pulsations bilaterally. A computed tomography (CT) scan of head was done to evaluate dizziness and near syncope that showed old ischemic changes. Initial electrocardiogram (ECG) showed non-specific ST/T wave changes consistent with previous ECG. On laboratory evaluation, he was found to have iron deficiency anemia with hemoglobin of 6.4 mg/dL and troponins of 0.165 secondary to demand ischemia. Pulmonary embolism was ruled out by a CT angiogram.\nHe was admitted to the medical floor where he was given one packed red blood cells (RBCs) transfusion. He underwent an esophagogastroduodenoscopy (EGD) for evaluation of anemia that showed non-bleeding gastric ulcers that were clipped. CT scan of left foot showed acute osteomyelitis in second toe, so he was started on broad-spectrum antibiotics and bone biopsy was planned. After bone biopsy was performed, he had one episode of hematemesis with melena. He underwent a repeat upper endoscopy that showed no obvious source of bleeding. A colonoscopy was performed that showed 2 - 4 mm polyps in the colon with cecal nodular erosions (), which were biopsied. To our surprise, the colonic and bone biopsy results were reported as metastatic poorly differentiated carcinoma of tonsillar origin ( and ). After discussion with patient and his family about plan of care and different treatment options, the patient wanted no surgical or oncological intervention and opted for palliative care. |
A 50-year-old female with a history of congenital cataracts, glaucoma, cerebral palsy, and acquired neurogenic bladder suffered a mild head trauma after a fall from standing height. Although she was initially cognitively intact and oriented, she became confused and developed right-sided weakness after several minutes. A neurological examination demonstrated severe spastic dysarthria, roving eye movements, bilateral asymmetric weakness of her arms and legs (right limb greater than left), and increased appendicular tone (lower extremities greater than upper).\nAn initial head CT showed confluent periventricular white matter abnormalities and the evolution of scattered punctate hemorrhages (fig. ). A CT angiogram of the head and neck was unremarkable. An MRI of the brain revealed extensive abnormalities (fig. ) including confluent periventricular white matter diseases, new infarction independent of hemorrhage, multiple scattered hemorrhages, and contrast-enhancing periventricular white matter. Cerebrospinal fluid (CSF) studies showed an elevated protein level (87 mg/dl), an IgG index of 0.5, and absent oligoclonal bands. Serum and CSF viral studies were normal. Serum autoimmune panels were normal except for a mildly elevated Sjögren's syndrome antinuclear antibody ratio (1.25; normal range 0–0.9) with unknown significance. Notably, her sister was diagnosed with progressive multiple sclerosis (MS) at the age of 26 years.\nWith the acute presentation of neurologic symptoms and a family history of demyelinating disease, acute hemorrhagic leukoencephalopathy secondary to underlying demyelinating disease was considered, and high-dose methylprednisolone therapy was initiated empirically. On day 3, the patient acutely became less responsive. A repeat head CT revealed increased new intraventricular hemorrhagic foci (fig. ). A repeat brain MRI 5 days later showed an interval increase in the multifocal and periventricular hemorrhagic foci with new intraventricular hemorrhage without any change in white matter hyperintensities (fig. ).\nAlthough the numerous areas of acute contrast enhancement were atypical, we considered the possibility of monogenic small vessel vasculopathies. Given the additional history of congenital cataracts and glaucoma, genetic syndromes involving ocular anterior segment dysgenesis, neuronal dysplasia or degeneration, and vasculopathy were considered (par-ticularly COL4A1-associated diseases). COL4A1 sequencing was performed, revealing a missense substitution (c.2969G>T; p.Gly990Val; NM_001845) within the triple helical G-X-Y domain, located within the splice acceptor site of exon 36. This previously unreported mutation is located in a residue conserved in mammals, avians, fish (including Danio rerio), and Caenorhabditis elegans, and is predicted to be damaging by MutationTaster (), polyphen-2 (genetics.bwh.harvard.edu/pph2), SIFT, and PROVEAN (). The Grantham score was 109, and the PHRED score was 32 (cadd.gs.washington.edu). A splice site alteration was predicted at this position by Human Splice Finder (). Exon 37 is in-frame with exon 35; therefore, skipping of exon 36 and deletion of residues 990–1019 are predicted. This variant has not been reported in the 1000 Genomes Project (), Exome Variant Server (evs.gs.washington.edu/EVS), or Exome Aggregation Consortium (exac.broadinstitute.org/). Other pathogenic mutations are reported in glycines within the Gly-X-Y triple helical domain of COL4A1 and other collagenopathy-associated genes [, ]. The sequencing was negative for other genetic causes of anterior segment dysgenesis, including B3GALTL, BMP4, CYP1B1, FOXC1, FOXC2, FOXE3, LAMB2, PAX6, PITX2, and PITX3 []. Therefore, we considered COL4A1 the cause of her cataracts and small vessel disease by mutation in the triple helical domain critical for forming collagen type 4 α1 α1 α2 heterotrimers []. Genetic testing was declined by her asymptomatic parents, asymptomatic son, and her sister with MS. The lack of any family history of ocular anterior segment dysgenesis and a lack of prior reports of incomplete penetrance in COL4A1-associated disease suggest that the mutation arose de novo in this patient. |
A 46-year-old male, with no known comorbidity, presented with an episode of urticaria along with shortness of breath. According to the patient, the urticaria had started from the extremities, progressed to the trunk, and was associated with generalized itching and swelling of lips. This was accompanied by shortness of breath and a cough that progressed from dry to productive with white sputum. He had a history of undocumented weight loss over the last few months. The rest of the symptom review was unremarkable. The patient was a long-term smoker who had recently quit smoking in the past six months and was currently an active betel nut chewer. He had no known allergies, no prior hospitalizations or surgical procedures, and was not on any routine medications. His family history was unremarkable.\nA chest radiograph revealed a left-sided pleural effusion. A pleural tap showed a predominantly lymphocytic exudate. The pleural effusion was recurrent and had not settled despite repeated pleural taps. A subsequent computed tomography (CT) scan of the chest revealed a large, left-sided pleural effusion, as well as a large soft tissue mass in the posterior mediastinum in a paravertebral location without extension into the spinal canal, as can be seen in Figure .\nBiopsy attempts had proven inconclusive. Routine laboratory investigations were unremarkable. The patient was advised tumor excision. A left posterolateral thoracotomy was done, in which a large posterior mediastinal mass was seen adherent to the left lung, as seen in Figure .\nThe mass was completely excised, as shown in Figure .\nThe patient had an uneventful postoperative recovery. Histopathology of the mass, which measured 12.5 x 8.5 x 7.5 cm, showed it to be a giant, predominantly cystic Schwannoma, with medium- to large-sized, congested hyalinized vessels with surrounding hemorrhage, as well as dense acute and chronic inflammatory changes without evidence of malignancy. The S-100 immunohistochemical stain was positive. Subsequent follow-up visits of the patient showed a complete resolution of the pleural effusion. |
The second case is a 16-year-old girl with no significant medical history. She was an avid horseback rider and track runner and participated in a daily exercise program, and had a strong desire to maintain her active lifestyle. She presented in July 2015 after she noticed a large bruise on her left hip that was not caused by trauma as far as she remembered and small red spots on her legs. Her father, a physician, was concerned, and had her medically examined. Her PC was 5 Gi/L. She denied any shortness of breath or difficulty breathing, headaches, changes in vision or sensation, or pain. She had not had any other evidence of bleeding other than the bruises and petechiae.\nHer CBC (excluding PC), antineutrophil antibodies, rheumatoid factors, thyroid functions, immunoglobulins A, G, and M, and platelet antibodies were all normal, eliminating concern for malignant, rheumatologic, or immunologic confounding conditions. Of note, a paternal aunt had recurrent ITP about 2–3 years prior. She also has a cousin and a great-uncle who died from acute myelogenous leukemia.\nThe patient had been using an oral contraceptive pill and daily doxycycline for her acne, but had stopped taking both about 2 weeks before admission. She had a normal menstrual cycle afterward without increased or prolonged bleeding.\nThe patient reported having had congestion, runny nose, and upset stomach with loose bowel movements her initial symptoms started 4–7 days before admission and she did not have any fevers or chills.\nThe patient was diagnosed with classic acute ITP following the viral illness as described. Indeed, pediatric cases of acute ITP commonly present a few weeks following infections, as infectious agents may stimulate production of antiplatelet antibodies resulting increased reticuloendothelial destruction of the platelets and thus thrombocytopenia. She received IVIG (1 g/kg), and her PC was 28 Gi/L 36 h after the dose (please see Fig. A for the patient's PCs during the course of the treatment). She suffered a severe headache for several days after the IVIG that required treatment with oxycodone.\nAlthough her PC was 81 Gi/L 2 weeks after IVIG dosing, the count was back down to 29 Gi/L at her 1-month follow-up. Given her active lifestyle and strong interest in horseback riding and running track, we decided to proceed with further treatment and prescribed a 4-day course of dexamethasone (40 mg once daily). However, 6 weeks later, her PC was 5 Gi/L. She then received IVIG (1 g/kg), and oral eltrombopag (25 mg once daily) was started.\nAfter the IVIG infusion and initiation of eltrombopag, the patient's PC oscillated between 37 and 73 Gi/L over a 3-month period (Fig. B). Considering the relatively high risk of injury associated with horseback riding, we adjusted our target platelet count to >100 Gi/L. The eltrombopag dose was increased to 50 mg once daily after 3 months of the first dose to stabilize the PC at >100 Gi/L.\nA month following this dose increase, her PC rose to 410 Gi/L, and the dose was decreased to 37.5 mg once daily. She has been maintained for several months on this dose, with PCs between 140 and 182 Gi/L, and no side effects have been reported. She is riding horses daily and back to her regular exercise routine. |
A right-handed, bilingual 54-year-old woman was admitted at the emergency department for a generalized tonic clonic seizure sustained by a primitive brain tumor located between the posterior part of the superior and middle temporal gyri and the anterior part of the angular gyrus in the left hemisphere. The lesion did not enhance after contrast medium administration and it was hypometabolic at 18F-fluorodeoxyglucose PET/MRI. The functional MRI (fMRI) confirmed that the lesion was located in the dominant hemisphere (). Due to the anxiety of the patient, mostly related to the diagnosis of brain tumor, the fMRI was performed testing only her mother tongue, i.e., Romanian. Interictal EEG showed an irritative activity in left centro–parietal derivations.\nConcerning the social and work surrounding the patient had been living in Italy for 17 years with her family, perfectly integrated in the social context, working as a housekeeper. Previously, she had 13 years of education, graduating in a vocational school in her home country.\nThe patient underwent a comprehensive battery of standardized neuropsychological tests performed in Italian, in order to evaluate the impact of the tumor on cognitive functions. A standardized evaluation of Romanian language was not executable because native language versions of the tests were not available and because none of the team spoke Romanian. The assessment was composed of tests covering different cognitive domains. The Oxford Cognitive Screen [,], a brief screening instrument composed of tasks on language, visual attention, spatial neglect, praxis abilities, visual and verbal memory, calculation, number reading and executive functions. Specific tests were also administered to better evaluate different cognitive functions. The Prose Memory Test (immediate and delayed recall) and Interference Memory test [] were used as a measure of verbal memory. Forward and backward digit span and the Corsi block-tapping test were administered to measure short-term memory and working memory both for the verbal and visuospatial components []. Selective attention and switching abilities were measured using the Trail-Making-Test, forms A and B []. Different components of language abilities were assessed through specific tests: Phonemic Fluency test [], the Boston Naming Test for visual naming ability [], verbal comprehension of words and sentences and repetition of words and non-words []. Concerning language domain, the baseline preoperative assessment showed an impaired performance in naming and verbal fluency, whereas the other language abilities were normal (). Furthermore, the patient refused the proposition of an awake surgery. Therefore, we decided to test the patient for both languages by means of rnTMS integrated with DTI-FT. Due to her anxious state only the dominant hemisphere was evaluated, focused on the surgical planning.\nThe patient signed specific informed consent for MRI acquisition, rnTMS tests, neuropsychological evaluation and surgical intervention.\nThe patient underwent brain MRI according to a specific protocol designed for the nTMS and DTI-FT using a 3T scanner (Ingenia 3T, Philips Healthcare) to obtain 3D T1-weighted images (TR/repetition time = 8, TE/echo time = 3.7); 3D FLAIR/fluid attenuated inversion recovery (TR = 4800, TE = 299, TI/inversion time = 1650, flip angle = 40, matrix = 240 × 240 mm2, voxel = 1 × 1 × 1 mm3, 196 slices, 4.05 min of acquisition time); diffusion weighted sequences (DWI with 32 directions, TR = 8736, TE = 91; single shell, b = 800 s/mm2) for DTI-FT.\nThe 3D T1-weighted sequence was imported into the nTMS system (NBS system 4.3—Nexstim Oy, Elimäenkatu 9 B, Helsinki, Finland) for language mapping, performed thorough a repetitive stimulation (rnTMS) according to the most update indications [,]. The patient’s resting motor threshold (RMT) was determined by applying nTMS to the left motor cortex representing the hand, detecting the motor response of the m. abductor pollicis brevis. The patient performed the language assessment (base-line test, rnTMS mapping) first in Romanian (in the presence of an interpreter) and then in Italian. The base-line test was performed twice without stimulation, in order to cross out from the list the unfamiliar words, possible confounding variables in error analysis. A total of 80 black-and-white drawings of high and low frequency objects were presented on a 17-inch monitor placed 1 m in front of the patient for the picture naming task. Display and inter-picture time were set at 700 ms and 2500 ms, further adjusted to 2 s and 4 s for both languages. The patient was asked to say aloud the initial phrase “this is a…” to distinguish between a speech arrest and anomia []. At the end of the base-line test, 70 and 67 figures were considered for Romanian and Italian mapping, respectively. The rnTMS stimulation frequency was set at the beginning at 5 pulses at 5 Hz at 110% RMT and then increased to 10 pulses at 10 Hz at 100% RMT because with the previous parameters of stimulation we did not obtain any error. The stimulation coil was randomly moved between the presentation of the images in about 1-cm steps over the perisylvian and peritumoral cortex. The rnTMS pulse train automatically triggered with picture presentation (0 ms) []. The entire mapping session was recorded on video for off-line data analysis, performed by an expert neuropsychologist (S.F.), helped by an interpreter for the review of the test performed in Romanian. The errors were classified according to Corina et al.: semantic paraphasias, circumlocutions, phonological paraphasias, neologisms, performance errors and no response errors []. We considered a site as language-eloquent if at least two of three stimulations caused an error response []. The stimulation sessions were well tolerated with a minimal discomfort reported (Visual Analogue Scale 2/10).\nThe off-line analysis highlighted 39 performance errors in Romanian (320 spots tested) of which a group of 5 was located in the superior–anterior and posterior–inferior border of the lesion. In Italian, 2 semantic and 15 performance errors were detected (271 sites tested), 3 of them located in the anterior part of the tumor. The language maps showed a convergence of the errors in the anterior middle temporal gyrus, middle middle temporal gyrus, posterior middle temporal gyrus, ventral precentral gyrus and anterior supramarginal gyrus according to the cortical parcellation system as described in Corina et al. [] (). The latest convergence corresponds to the anterior part of the tumor.\nThe rnTMS cortical mapping was used to obtain the nTMS-based DTI-FT of the principal subcortical pathways of language function: arcuate fascicle (AF), frontal aslant tract (FAT), inferior fronto–occipital fascicle (IFOF), inferior longitudinal fascicle (ILF), superior longitudinal fascicle (SLF), uncinate fascicle (UF) [,,]. The workflow for DTI-FT was performed on the StealthStation S7 navigation system by using StealthViz software (Medtronic Navigation, Coal Creek Circle Louisville, CO, USA). A deterministic approach based on the fiber assignment by continuous tracking (FACT) algorithm was used, with these parameters: FA cut off value = 0.15; vector step length = 0.5 mm; minimum fiber length = 30 mm; seeding density = 1.0; max directional change 90°. All language positive spots were imported into the planning station and used to create an overall object with an additional 5-mm border for each cortical spot. Subsequently, the object was exploited like a single ROI for tracking and the StealthViz software created a directionally encoded color map and then a 3D volume of white matter fibers originating from the cortical positive spots previously selected []. nTMS-based DTI-FT was able to identify the subcortical network for both languages, consisting of 533 and 293 fibers for Romanian and Italian, respectively. The 3D volumes were then manually elaborated to better visualize the single language-related tracts included in the reconstruction (i.e AF, SLF and ILF) under constant supervision of an expert neuroradiolgist [,,] (). White matter reconstruction displayed an overlap of AF in both languages with the anterior part of the lesion.\nAccording to the rnTMS results, the tumor was divided into an eloquent and non-eloquent part, the latter identified as our surgical target. Using the planning station, the anterior part was highlighted in red and the target in violet. Then, the final reconstruction of language network was imported into the neuronavigation system to assist surgery ().\nSurgical resection of the posterior non-eloquent part was achieved by neuronavigation because the lesion was not clearly distinguished from normal brain parenchyma. Integrated histological and molecular diagnosis disclosed a WHO-grade IV gliomas []. She received perioperative antiepileptic drugs prophylaxis. Moreover, the patient received dexamethasone 4 mg four times daily for one week followed by gradual tapering. Postoperative neuropsychological assessment, performed after one week, showed a global worsening of the performance in language tasks (reading, number writing) and in other cognitive functions (praxical function in right hand, short- and long-term verbal memory, verbal working memory). However, the follow-up evaluations performed at 1 and 4 months after surgery, revealed a restoration of functions through the time. The performance at four months after the surgery was comparable with the baseline (). Relatives reported intact native language performance as well. The patient underwent whole brain radiotherapy (60 Gy/30 fractions) and medicated with Temozolomide (two cycles). The patient did not present seizures at last follow-up (10 months). |
A 58-year-old woman presented with edema of the face that had developed approximately one year prior. It was not painful nor pruritic, but she felt it was more prominent on the left side. Courses of antibiotic therapy for a presumed diagnosis of cellulitis had not been effective, but glucocorticoids greatly improved the swelling, which relapsed rapidly with tapering. One week prior, as another course of glucocorticoids prescribed for a diagnosis of angioedema was tapered out, her facial edema relapsed, accompanied by tiny, pruritic vesicular lesions on the chin. Although she was evaluated in neurology and dental clinics, no specific diagnosis was made. She reported ‘dryness’ and ‘itchiness’ of the eyes, but not in the oral cavity.\nOn evaluation, there was bilateral swelling of the malar and temporal area of the face, involving the periorbital area and eyelid in the left side. On the chin, there was eczematoid vesicular eruption (Fig. a). There was no abnormal finding on the examination of the chest and abdomen. There was no edema or rash in the trunk or extremities. Neck flexion was preserved, and the power of the extremities’ motor function was evaluated as five on a scale of zero to five. On ophthalmologic examination, there was swelling of the left upper eyelid, and the anterior chamber was clear and deep in both eyes. Five-minute Schirmer test result was 6 mm in the right eye and 8 mm in the left eye (reference value < 5 mm for dry eye disease, but known to have low sensitivity in mild or moderate cases)[]. Ocular staining score was 1 and 2 in the right and left eye, respectively (reference value ≥ 5 for classification of primary Sjögren’s syndrome)[].\nOn the initial laboratory evaluation, there were no abnormalities, and the serum creatine phosphokinase (CPK) level was within normal range (Table ). On serologic evaluation, antinuclear antibody was positive up to 1:160 in titer in homogeneous pattern, but anti-dsDNA Ab and anti-histone Ab was negative. Anti-SSA (> 240 U/mL) and anti-SSB (18 U/mL) antibodies were positive (fluorescent enzyme immunoassay, reference value < 7 U/mL for both); anti-RNP and anti-Smith Ab, negative. Anti-Jo1 antibody and anti-SRP antibody were negative. Anti-neutrophil cytoplasmic antibody was negative and IgG4 level was within normal range: 102 mg/dL (reference 30 ~ 201 mg/dL).\nOn MRI, there was a diffuse edematous change in the bilateral masticator and extra-ocular muscles, accompanied by subcutaneous fat infiltration in the buccal and periorbital spaces. There was inhomogeneous enhancement of bilateral parotid glands. On PET-CT scan there was diffuse F-18-FDG uptake in the periorbital, frontalis, temporalis, and masseter muscles and the buccal and submandibular spaces without any increased uptake in the extremities or internal organs.\nThe Head and Neck Surgery and Radiology departments opined that a biopsy of the muscles would entail risk of complications such as bleeding and injury to the muscles. After a discussion with the patient regarding undergoing a muscle biopsy, a presumptive clinical diagnosis of an overlap syndrome of Sjogren’s syndrome with myositis was made and treatment with a medium-dose glucocorticoid (prednisolone 30 mg/day) begun; based on reports of orbital involvement, a good response to therapy, and benign prognosis in myositis associated with Sjogren’s syndrome[–]. On 16th day of treatment, the facial swelling was assessed as having completely resolved (Fig. b); however, the facial edema relapsed during subsequent days when glucocorticoid doses were lowered to less than 15 mg/day. Combination therapy with azathioprine, mycophenolate, or methotrexate for eight months was not effective in maintaining remission at acceptable doses of glucocorticoid, and the swelling aggravated considerably with the final relapse.\nThe patient finally agreed to further evaluation and was admitted to the hospital. On examination, there was aggravation of the facial edema (Fig. c). There was swelling of the right ankle, without tenderness. Neck flexion was preserved and motor power of extremities was assessed as five on a scale of zero to five. On laboratory evaluation, there was mild elevation of liver transaminases and CPK (Table ). Serum aldolase was 7.9 U/L (reference < 7.6 U/L). On MRI of the head, there was aggravation of the inflammation (Fig. d). On ultrasonography of the right ankle, there was subcutaneous edema without evidence of synovitis. A series of evaluations to screen for malignancy including tumor makers (CA19-9, CEA, and CA125), esophagogastroduodenoscopy, colonoscopy, and mammography did not reveal abnormal findings.\nA US-guided core-needle biopsy with an 18-gauge needle was performed in the right masseter muscle. Two pieces of tiny muscle tissue, measuring up to 0.5 × 0.1 cm, were obtained. On pathologic examination, there was moderate size variation of the myofibers, and endomysial and perimysial fibrosis. There was patchy CD4 + T cell-dominant lymphoplasmacytic infiltration in the stroma and atrophy of the myofibers, mainly at the periphery of the fascicles, being consistent with perifascicular atrophy. Necrosis of the myofibers was not prominent (Fig. ). Based on these findings, a diagnosis of clinically amyopathic dermatomyositis was made.\nTherapy with gamma-globulin (IVIG, 2.1 g/kg per month) in combination with prednisolone 30 mg/day was initiated, and after the first cycle the facial edema had resolved completely. However, when the dose of prednisolone was decreased to 15 mg/day, she made an earlier visit to the clinic with a relapse of the facial edema within six days. By the fourth cycle of IVIG, sustained remission could not be achieved. A course of rituximab (1.0 g twice, a week apart) in combination with methylprednisolone 40 mg/day was started. In the sixth week of rituximab therapy, when glucocorticoid dose was decreased to methylprednisolone 32 mg/day, she presented to the emergency room with altered mentality that began one day prior. On presentation, there was a fever of 38.7 °C, and the patient began mechanical ventilation immediately for hypoxemic respiratory failure. On chest X-ray, there was diffuse consolidation in both lung fields (Fig. b). On high-resolution CT, there was diffuse consolidation in the dependent portion of the lungs and diffuse ground glass opacity with relative sparing of the base of the lungs (Fig. c, d). The next day, the patient underwent bronchoscopy with bronchoalveolar lavage. The total cell count was 12 × 106 cells in 9 mL of fluid. Differential data of each cell type was as follows: macrophage 8 %, neutrophil 83 %, and lymphocyte 9 %. There was no bacteria isolated from the respiratory specimen, and a polymerase chain reaction (PCR) test for respiratory viruses including adenovirus, influenza virus, parainfluenza virus, and respiratory syncytial virus was negative. Pneumocystis jirovecii PCR and Gomori methenamine silver (GMS) staining were positive, and the patient began treatment with trimethoprim-sulfamethoxazole and glucocorticoids; but her hypoxemic respiratory failure progressed, and veno-venous extracorporeal (ECMO) membrane oxygenation was begun three days later. Given the lack of response to antibiotics therapy, glucocorticoid pulse and IV cyclosporine was started in consideration of rapidly progressive interstitial lung disease (RP-ILD). Over the next three weeks, despite the addition of polymyxin B-immobilized fiber column direct hemoperfusion (PMX-DHP)[], there was no improvement in her hypoxemic respiratory failure, and according to the family’s will, the ECMO was weaned. On that day, she expired from respiratory failure. |
A 49-year-old male with adult onset bronchial asthma, on inhalers for the past 5 years, presented with sudden onset severe epigastric pain for 1-day duration. He denied any history of nausea, vomiting, abdominal distension, or a recent change in bowel habits. He has been having similar episodes for the past 2 months and was managed as “gastritis” with proton pump inhibitors. Physical examination revealed a soft, nondistended abdomen, with mild generalized tenderness. Biochemical and haematological investigations were within normal limits.\nUltrasound scan revealed a small bowel intussusception with the classical target sign (). Contrast enhanced computed tomography (CECT) of the abdomen revealed a large segment proximal bowel intussusception, with two intra-abdominal masses with prominent arterial enhancement, attached to the proximal mesentery.\nThe combination of recent-onset asthma and the highly suggestive radiological findings raised the suspicions a carcinoid tumour. Therefore, serum chromogranin A level was also performed.\nThe patient underwent an exploratory laparotomy. A proximal jejunal intussusception was identified which was easily reducible. There were three benign-looking tumours, two arising from the proximal small bowel mesentery and a third one arising from the proximal jejunal wall which was the leading point for the intussusception (Figures and ). The two mesenteric tumours were excised with the vascular pedicle supplying the tumours. The tumour arising from the proximal jejunum was excised with a 1 cm cuff of normal bowel tissue and repaired primarily. The rest of the peritoneal survey was normal, and there was no evidence of liver deposits.\nHistopathological analyses of all 3 tumours revealed a Grade 1 carcinoid tumour of classic type (). The Ki-67 proliferation index was less than 1%. Postoperative period was uncomplicated, and the patient was discharged on day 3. Serum chromogranin A levels that were sent before surgery were high (1093 micrograms/litre (normal < 100)). At 3 months after surgery, serum chromogranin levels were 64.5 (normal < 100). At 6 months of follow-up, the patient was completely asymptomatic and was free of asthmatic episodes. |
The patient detailed in this report is a 27-year-old pregnant female. She was simulated for treatment to her grade 3 astrocytoma resection cavity during gestational week 17. The patient was prescribed 50.4 Gy in 28 fractions to a primary target volume to be followed sequentially by a 9 Gy boost in five fractions to a smaller volume. Medical images with delineated target volumes are shown in Fig. . Standard departmental brain planning constraints were ordered for this patient, including D(0.03 mL) < 54 Gy for the brainstem, optic chiasm, and optic nerves; mean dose < 35 Gy and D(0.03 mL) < 40 Gy for the cochleae; D(0.03 mL) < 7 Gy for the lenses of the eyes; and D(0.03 mL) < 45 Gy for the spinal cord. At least 95% of the target volume was covered with 99% of the prescription dose in each treatment plan, and target hotspots were maintained less than 110%.\nFetal dose was assessed at four points of interest bracketing the distances where the fetus could conceivably be located during the patient's course of treatment: (a) the pubic symphysis, (b) the uterine fundus on the date of simulation, (c) the umbilicus, and (d) the uterine fundus projected to the end of the treatment course. At the time of CT simulation, the distances to the patient's umbilicus and pubic symphysis were measured from a fixed radio-opaque marker placed on her chin. Palpation of the uterine fundus was not achieved in our department; instead, a brief consultation with diagnostic radiology immediately prior to her CT simulation measured her uterine fundus to be 4 cm inferior to her umbilicus using a portable ultrasound unit. The total distance from each point of interest to the target volume was later determined by measuring the distance between the radio-opaque marker and the segmented target volume in the simulation CT image. Finally, we assumed superior progression of the patient's uterine fundus at a rate of 1 cm/week and that the patient would be treated during gestational weeks 19–25. Table shows the distances from the target volumes to the points of interest.\nOur institution's Health Insurance Portability and Accountability Act (HIPAA) Privacy Officer has reviewed this manuscript to ensure compliance with our institution's standards for protected health information. Institutional Review Board review was not required. |
A full-term, 22-month-old girl was admitted to the hospital with complaints of dyspnea, cough and mild fever, which started two weeks ago. She had no previous episode of upper respiratory infection. She presented with a wheezing episode a year earlier, which responded well to bronchodilators and did not recur. Otherwise, she had an unremarkable medical, surgical or familial history.\nPhysical examination revealed severe dyspnea (respiratory rate: 52 r/min), central cyanosis (O2 saturation: 87%) and fever of 39. Abdominal examination was normal. Cardiovascular examination showed a heart rate of 160 bpm without any abnormal heart sound. The auscultation revealed diminished breath sounds all over the right chest.\nLaboratory tests showed C-reactive protein levels of 19.1 mg/L, white blood cell count of 10.79/L, haemoglobin levels of 10.2 g/dL and otherwise normal findings.\nA following chest X-ray revealed increased cardiothoracic ratio and areas of increased density in the middle and lower right lobes which raised the suspicion of pneumonia ().\nCardiac ultrasonography revealed clear large-amount pericardial effusion as well as a mass right and above the heart without any connection to the heart.\nSince the chest X-ray and cardiac ultrasonography did not specify any lesion, we ordered a chest computed tomography. Computed tomography scan revealed a unilocular cystic mass in the right anterior mediastinum above the heart which raised the suspicion of a tumour ().\nWe measured tumour markers including Alpha-Feto Protein and Beta Human Chorionic Gonadotropin, and they were within normal ranges. The pathological examination of pleural and pericardial effusions revealed acute inflammatory infiltrate without tumour cells so we put the patient on antibiotics.\nWe decided then to perform surgery to resect the cystic mass. A thoracotomy with a fourth intercostal incision exposed the cyst inside the thymic gland. The cyst was resected and specimens were sent for pathological examination. The patient then had a cardiorespiratory deterioration which required ventilation support for two days. After that, her vital signs improved. The following chest X-ray and cardiac ultrasound returned to normal and she was discharged with a stable condition.\nPathological examination of the resected cyst revealed thymic cyst with neutrophil-infiltrated wall (Hassal bodies were not evident probably due to the vigorous decortication of the cyst). We stained the specimen with Gram stain which showed a Gram-positive cocci in the wall of the cyst which confirmed the diagnosis of an infected thymic cyst (). |
A 50-year-old female patient visited our clinic complaining of left knee pain that had been present for 4 months. The condition was aggravated during ambulation and worsened as time went by. There was no trauma history or any significant past medical history of note. She had gone to another hospital first where a left distal femur osteolytic tumor was found. Needle biopsy was performed there, and the pathology revealed giant cell tumor of the bone (). She was then given subcutaneous injections of denosumab (120 mg) every 4 weeks for 3 months. Due to personal reasons, she visited our clinic thereafter. Magnetic resonance imaging showed a 4.1-cm expansile, eccentric osteolytic bone tumor around the epiphysis and metaphysis of the left distal femur; the lesion manifested low T1 weighted image and T2 weighted image with strong contrast enhancement (). Relatively well-defined margins with cortical thinning were noted. No conspicuous tumor regression was noted, and the lesion was still radiologically classified as grade II using the Campanacci classification. After 3 months of denosumab treatment, adequate curettage and adjuvant cryotherapy with liquid nitrogen and bone graft implantation were performed.\nA brownish circumscribed tumor, 5 cm in size, was found during the operation, with no soft tissue or joint involvement. The curettage specimen was sent for pathologic examination. Light microscopy showed that the tumor was composed mostly of woven bone, with a small amount of aggregated mononuclear cell foci and scattered osteoclast-like giant cells (< 10%). Compared with ordinary giant cell tumors of the bone before denosumab treatment (), this post-treatment specimen showed decreased cellularity, reduced number and size of osteoclast-like giant cells, and abundant new bone deposition as broad, rounded cords, or long, curvilinear arrays (, ). Only minimal cytological atypia and occasional mitoses were noted. Focal necrosis was identified. Immunohistochemically, the tumor cells were negative for cyclin-dependent kinase 4 (1:200, ZETA Corporation, Arcadia, CA, USA), and murine double minute 2 (MDM2; 1:50, ZETA Corporation) (). The genetic study was negative for MDM2 amplification. In addition, the H3F3A gene mutation was assessed with polymerase chain reaction and direct sequencing which showed hotspot mutation c.100G > T (G34W) ().\nAfter the operation, the range of motion (ROM) for the left knee gradually improved from partial to full ROM at 6-month follow-up. No evidence of tumor recurrence was noted.\nThis study was approved by the Institutional Review Board of Kaohsiung Veterans General Hospital (IRB No. VGHKS18-CT2-01) with a waiver of informed consent. |
We described a 31-year-old Iranian woman with a 9-year history of MS and Fahr's disease. Her complaint had started with fatigability and unsteady gait occasionally, when she was 13 years old. At that time, computerized tomography of brain showed basal ganglion calcification bilaterally. Secondary causes of the brain calcifications were excluded including serum concentration of calcium, phosphorus, parathyroid hormone, thyroid function test, lactate, pyruvate, chemistry profile, sedimentation rate, rheumatoid factor, antinuclear antibodies, ceruloplasmin, and antitoxoplasmosis. The patient had no other signs up to 9 years. At the age of 22, she showed diplopia and paraparesis. Physical examination revealed decreased mood, resent memory disorder, hypertonicity, increased deep tendon reflex, bilateral Babinski, impaired cerebellar tests, and spastic-ataxic gait. The patient did not have a family history and different diagnoses revealed no signs of metabolic or inflammatory etiologies. Magnetic resonance imaging (MRI) of brain and cervical showed multiple areas of increased signal intensity of deep white matter in T2 and FLAIR view, consistent with the diagnosis of MS (). The T1 view showed hypersignal intensity at bilateral basal ganglion and cerebellar and also black holes (). Computerized tomography (CT) of the brain confirmed bilateral and symmetric calcifications most prominent in the cerebellar hemispheres and basal ganglia (). Serum inflammatory markers and autoantibodies were showed negative. Cerebral spinal fluid examination showed increase in immunoglobulin G. With respect to the CT scan findings, clinical history and also normal blood chemistry have diagnosed Fahr's disease and also the findings of brain MRI had confirmed multiple sclerosis. The patient received steroid that vertigo, diplopia, and paraparesis improved up to three months. The patient was treated with interferon β. She had an attack that received steroid treatment intravenously. The course of disease was relapsing remitting MS during 8 years. Unfortunately, symptoms of patient progressed and converted to secondary progressive MS from the past year. At present, the patient cannot walk without assistance at a distance of 100 meters. |
A 71-year-old man was referred to our outpatient clinic for echocardiography with symptoms of decreased exercise tolerance, exertional dyspnoea and angina pectoris. Relevant medical history reports fractional flow reserve-guided (0.78) percutaneous coronary intervention (PCI) of the right coronary artery (RCA) in 2015 due to stable angina pectoris. Angina pectoris persisted during follow-up and coronary angiography was repeated in 2016. The stent was patent with no new significant coronary artery disease. The last echocardiography performed in 2017 described mild aortic stenosis, left ventricular hypertrophy and a restrictive diastolic function. The diagnosis microvascular coronary artery disease was suspected. Treatment with calcium-antagonists was initiated with moderate improvement in symptoms. At the time of referral the patient used metoprolol 50 mg once daily, amlodipine 5 mg once daily, nitroglycerine plaster 5 mg/24 h once daily, and acetylsalicylic acid 80 mg once daily.\nThe patient reported a significant decline in his ability to exercise. The patient used to cycle more than 15 000 km a year but is currently only able to cycle short distances using electrical support.\nPhysical examination revealed a man of average stature (body mass index 24 kg/m2) with a blood pressure of 133/75 mmHg and a pulse of 57 b.p.m. A systolic murmur (Grade II/VI) was heard at the right second intercostal space. Further physical examination revealed no further abnormalities.\nThe electrocardiogram showed sinus rhythm 57 b.p.m., normal electrical axis, first degree atrioventricular block, QRS duration of 94 ms, low voltage in the limb leads and pseudo-infarct pattern in the precordial leads. Compared to the previous electrocardiograms low voltage in the limb leads were progressive (). Although the first electrocardiogram from 2016 does not meet the criteria for low voltage in the limb leads, it is disproportionally low compared with the amount of left ventricular hypertrophy on the echocardiogram.\nLeft and right ventricular hypertrophy with a decreased systolic left ventricular function (41%) was seen on echocardiogram ( and , Videos S1 and S2). Further echocardiographic findings were mild aortic stenosis, bi-atrial dilation, interatrial septum thickening, and restrictive diastolic function (). The global longitudinal strain (GLS) of the left ventricle was decreased (-8.8%) with ‘relative’ apical sparing (). Moreover, left atrial GLS was impaired (). These echocardiographic findings raised a high suspicion of cardiac amyloidosis.\nCurrent echocardiographic findings were compared to previous findings. This revealed progressive thickening of both ventricles and the interatrial septum (). Over time the diastolic dysfunction became restrictive with an increase in E/A ratio, decrease of e′ and reversal of pulmonary vein flow (). Pattern of ‘relative’ apical sparing of the left ventricle became more pronounced ().\nTo confirm the suspicion of cardiac amyloidosis a bone scintigraphy (using technecium-99m-3,3-diphosphono-1,2 propanodicarboxylic acid (99mTc-DPD)) was performed which was positive (Perugini Grade 3) (). Blood testing confirmed the absence of monoclonal proteins, leading to the diagnosis of ATTR amyloidosis. To differentiate between wildtype and hereditary ATTR amyloidosis blood samples were taken and analysed. No genes associated with hereditary ATTR amyloidosis were found, confirming the diagnosis of wildtype ATTR amyloidosis. Treatment with Tafamidis 80 mg once daily (built up over 4 weeks from 20 mg once daily) was initiated and will be continued indefinitely. As follow-up an echocardiogram will be repeated 1 year after treatment with Tafamidis. |
An 83-year-old male patient had osteoarthritis for 7 years in the right knee, with no flexion contracture or highly varus and valgus deformity. Because of extreme pain, the patient underwent magnetic resonance imaging, which showed lesions in the medial femoral condyle cartilage in the weight-bearing region; the same findings were confirmed during the TKA operation (). He had previously undergone left primary TKA for incapacitating knee pain recalcitrant to conservative therapy at our hospital 25 months ago. We considered salvage procedures such as cartilage restoration procedure or high tibial osteotomy considering the size of the knee joint lesion and combined medical disease with age. However, we planned TKA since the patient complained of severe pain, and satisfaction was high on the contralateral side after TKA. He had been taking warfarin for paroxysmal AF. He had a smoking history of 1.5 packs per day for 32 years and cholecystectomy 2 years ago, but he had no specific medical history or history of peripheral vascular disease, being bed-ridden for a long period, or glucocorticoid usage. The patient had normal femoral, popliteal, and ankle pulses bilaterally on palpation. The ankle brachial index (ABI; right, 1.06; left, 1.04) and echocardiography showed no specific clinical manifestation. After 3 days of warfarin hold for perioperative bridging anticoagulation therapy, the patient’s international normalized ratio (INR) was 1.72. Enoxaparine sodium (40 mg Cnoxane; YooYoung Pharm co., Seoul, Korea) was administered to the patient. He underwent TKA under spinal anesthesia. TKA was initiated with a tourniquet inflated to a pressure of 300 mmHg, and the anterior parapatellar approach was used. The total blood loss for the procedure was 350 mL, which was measured by weighing the gauze plus the suction drain amount without the irrigating solution. The tourniquet time lasted for 96 minutes. No intraoperative complications were noted during the surgical procedure. Compressive dressing was applied on the lower limb after the operation. After surgery, the patient was transferred to the recovery room. The patient’s motor and sensory functions were not checked in the recovery room due to spinal anesthesia, but the patient’s lower limb was warm and the pulsation of the dorsalis pedis artery was intact. After about 20 minutes in the recovery room, the patient’s mental state declined and he became drowsy, his respiration decreased, and his blood pressure decreased to 80/40 mmHg; thus, he was transferred to the intensive care unit. Computed tomography (CT) images showed no specific lesions in the brain and lungs. Supportive therapy was administered, and the patient’s vital signs recovered to normal range on postoperative day 1. However, on postoperative day 1, after waking up, the patient showed an unstable mental status without awareness of places or persons and signs of delirium; he was trembling and tried to get out of bed. He was given a sedative, which did not provide much improvement, and restraint bands were used to limit the patient’s hand and foot movements. On postoperative day 2, the drain tube was removed because the Hemovac drain amount decreased to 60 mL. To remove the drain, the compressive dressing was removed for the first time after surgery. However, the pulse and temperature of the lower limb were not checked, which should have also been checked on postoperative day 1. We should have classified him as a high risk patient for thrombotic events, but which we did not. If we had examined more carefully, arterial occlusion could have been found earlier. On postoperative day 2, Cnoxane 40 mg and warfarin were administered because the patient’s INR increased to 1.83. An air pressure device was used for mechanical prophylaxis to prevent deep vein thrombosis after the removal of the compressive dressing. On postoperative day 3, the dosage of warfarin was the same as that used before the surgery. On the afternoon of postoperative day 2, when the compressive dressing was removed for dressing change, there was notable necrosis of the foot on gross examination. No pulsation of the dorsalis pedis artery was noted during palpation or capillary filling of the toenail. Emergency lower-extremity CT angiography showed total occlusion of the right femoral artery (). After emergency consultation with the cardiovascular department, angiography was performed, which showed total embolic occlusion of the right femoral artery. Fogarty thrombectomy was attempted via the right inguinal site; however, the reperfusion of the popliteal and anterior and posterior tibial arteries was not satisfactory (). No back bleeding was noted, which means that there is no bleeding through the catheter where it is approached below the occluded artery. Open thrombectomy was performed when the occlusion site was not completely resolved, but flow maintenance was observed on completion angiography, thus precluding the need for additional open thrombectomy. However, upon evaluation, we were dissatisfied because the flow was insufficient. On postoperative day 4, sepsis combined with rhabdomyolysis was suspected. The patient was drowsy, with decreased blood pressure (70/50 mmHg), and the necrosis below the knee deteriorated rapidly (). On postoperative day 17, above-knee amputation was performed (). After amputation, the vital signs of the patient stabilized. He was discharged, using a wheelchair for ambulation. The patient has been monitored for 6 months after amputation. |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.