OpenMed/multicare-articles huggingface dataset:
Remitting seronegative symmetrical synovitis with pitting edema syndrome in a chronic hemodialysis patient
Authors: Shunsuke Yamada, Seiya Fuyuno, Masahiro Eriguchi, Kazuhiko Tsuruya, Takanari Kitazono
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

A 75-year-old male who was undergoing chronic hemodialysis developed abrupt-onset pitting edema and pain in the dorsum of both hands and feet. Biochemical analysis disclosed increased C-reactive protein, and negative rheumatoid factor and antinuclear antibody. Radiological examination showed no bony erosion. Computed tomography and gallium scintigraphy revealed no active infection or neoplasms. The clinical diagnosis was remitting seronegative symmetrical synovitis with pitting edema (RS(3)PE) syndrome. The pitting edema and inflammatory response quickly subsided after low-dose prednisolone therapy. This case demonstrates that RS(3)PE syndrome could be a differential diagnosis in elderly patients undergoing dialysis who develop pitting edema and joint pain.
Ibuprofen for Ductus Arteriosus Months after Birth
Authors: Odile Frauenfelder, Ingrid M van Beynum, Irwin K M Reiss, Sinno H P Simons
Journal: Case Rep Pediatr (2016)

Ibuprofen is a well-known agent used to treat patent ductus arteriosus in preterm neonates in the first days of life. In the current case report we illustrate the potential use of ibuprofen in two preterm neonates 60 and 88 days after birth, respectively. To our knowledge, this is the first report on the effects of ibuprofen on patent ductus arteriosus in preterm newborns after months of life. These cases suggest that the ductus arteriosus does not become refractory for ibuprofen after the first days of life. Late closure of the duct with ibuprofen might still improve the cardiorespiratory condition and prevent infants from surgical closure. Controlled trials are necessary to further study these findings.
Epidural Labor Analgesia for a Patient with Neuromyelitis Optica: A Case Report and Review of the Literature
Authors: Alexandra Chang, Brian Chung, Rashmi Vandse
Journal: Case Rep Anesthesiol (2018)
MeSH terms: Case Reports

Neuromyelitis optica (NMO) is a rare demyelinating disorder affecting the spinal cord and optic nerves. Like multiple sclerosis (MS), it predominantly affects women during childbearing years. The impact of neuraxial anesthesia on the course of NMO is uncertain. There are no large studies available to draw definitive conclusions regarding the safety of neuraxial anesthesia in this population. A review of the current literature suggests that neuraxial anesthesia is unlikely to exacerbate neurologic symptoms in pregnant patients with NMO. However, given the rarity of this disease entity among patients requesting epidural labor analgesia, we recommend taking a cautious approach.
Whole Exome- and mRNA-Sequencing of an AT/RT Case Reveals Few Somatic Mutations and Several Deregulated Signalling Pathways in the Context of SMARCB1 Deficiency
Authors: Johanna Sandgren, Stefan Holm, Ana Maria Marino, Jurate Asmundsson, Pernilla Grillner, Monica Nistér, Teresita Díaz de Ståhl
Journal: Biomed Res Int (2015)
MeSH terms: Chromosomal Proteins, Non-Histone / deficiency, Chromosomal Proteins, Non-Histone / genetics, DNA-Binding Proteins / deficiency, DNA-Binding Proteins / genetics, Genome / genetics, RNA, Messenger / genetics, Rhabdoid Tumor / genetics, Teratoma / genetics, Transcription Factors / deficiency, Transcription Factors / genetics, Case Reports, Research Support, Non-U.S. Gov't, Chromosomal Proteins, Non-Histone / metabolism, DNA-Binding Proteins / metabolism, Humans, Infant, Male, Mutation Accumulation, RNA, Messenger / analysis, RNA, Messenger / metabolism, SMARCB1 Protein, Sequence Analysis, DNA, Signal Transduction, Transcription Factors / metabolism, Chromosomal Proteins, Non-Histone, DNA-Binding Proteins, RNA, Messenger, SMARCB1 Protein, SMARCB1 protein, human, Transcription Factors, Teratoid Tumor, Atypical

Background:
AT/RTs are rare aggressive brain tumours, mainly affecting young children. Most cases present with genetic inactivation of SMARCB1, a core member of the SWI/SNF chromatin-remodeling complex. We have performed whole exome- and mRNA-sequencing on an early onset AT/RT case for detection of genetic events potentially contributing to the disease.
Results:
A de novo germline variant in SMARCB1, c.601C>T p.Arg201∗, in combination with somatic deletion of the healthy allele is likely the major tumour causing event. Only seven somatic small scale mutations were discovered (hitting SEPT03, H2BFM, ZIC4, HIST2H2AB, ZIK1, KRTAP6-3, and IFNA8). All were found with subclonal allele frequencies (range 5.7-17%) and none were expressed. However, besides SMARCB1, candidate genes affected by predicted damaging germline variants that were expressed were detected (KDM5C, NUMA1, and PCM1). Analysis of differently expressed genes revealed many dysregulated pathways in the tumour, such as cell cycle, CXCR4 pathway, GPCR-signalling, and neuronal system. FGFR1, CXCR4, and MDK were upregulated and may represent possible drug targets.
Conclusion:
The loss of SMARCB1 function leads to AT/RT development and deregulated genes and pathways. Additional predisposing events may however contribute. Studies utilizing NGS technologies in larger cohorts will probably identify recurrent genetic and epigenetic alterations and molecular subgroups with implications for clinical practice and development of targeted therapies.
Scleredema diabeticorum in a patient with type 2 diabetes mellitus
Authors: C Martín, L Requena, K Manrique, F D Manzarbeitia, A Rovira
Journal: Case Rep Endocrinol (2011)
MeSH terms: Case Reports

Background. Scleredema adultorum, a connective tissue disorder of unknown aetiology, is characterized by a thickening of the reticular dermis in the upper back of the body that may decrease the mobility of the affected tissues. It has been reported in diabetic patients with poor metabolic control. Therapeutic options are limited with generally poor results. Case Report. 53-year-old white male with type 2 diabetes mellitus was referred to our department for evaluation of incipient nephropathy and retinopathy. On examination, he presented erythematous, indurated, painless and ill-defined plaque on the skin of the upper back with limited movement of shoulders. A biopsy was done revealing scleredema. PUVA treatment and physiotherapy were started with the amelioration of mobility and acquiring some elasticity of the upper back. Discussion. The development of scleredema in diabetic patients has been related to prolonged exposure to chronic hyperglycaemia. Our patient has had diabetes for 20 years with an acceptable glucose control, however he developed the scleredema 10 years ago. Conclusions. Scleredema is a rare connective disorder that seems to appear most frequently in diabetic subjects. Good metabolic control seems not to preclude its development. PUVA treatment and physiotherapy are therapeutic options that seem to be of some help.
Mannose phosphate isomerase gene mutation leads to a congenital disorder of glycosylation: A rare case report and literature review
Authors: Siliang Lu, Shuheng Liang, Yi Wu, Jinyi Liu, Lin Lin, Guosheng Huang, Huaijun Ning
Journal: Front Pediatr (2023)
Keywords: cdg, mpi-cdg, carbohydrate deficient glycoprotein syndrome, congenital disorder of glycosylation, mannose phosphate isomerase
MeSH terms: Review

We report the case of a 2-year-old girl who was diagnosed with Mannose-6-phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) and provide a review of the relevant literature. The young girl presented with recurrent unexplained diarrhea, vomiting, hypoproteinemia, and elevated liver transaminases. Whole-exome sequencing revealed that the patient had compound heterozygous mutations in the MPI gene (NM_0024). An exon 4 (c.455G > T, p.R152l) mutation was inherited from the mother and an exon 7 (c.884G > A, p.R295H) mutation from the father. One week after the start of mannose treatment, the vomiting and diarrhea symptoms disappeared completely and did not show any side effects. We also provide a brief review of the relevant literature. Including the present case, a total of 52 patients from hospitals across 17 countries were diagnosed with MPI-CDG. Age at disease onset ranged from birth to 15 years, with an onset under 2 years in most patients (43/50). Overall, patients presented with at least one or more of the following symptoms: chronic diarrhea (41/46), vomiting (23/27), hepatomegaly (39/44), hepatic fibrosis (20/37), protein-losing enteropathy (30/36), elevated serum transaminases (24/34), hyperinsulinemic-hypoglycemia (24/34), hypoalbuminemia (33/38), prolonged coagulation (26/30), splenomegaly (13/21), non-pitting edema (14/20), failure to thrive (13/36), portal hypertension (4/9), epilepsy (2/17), thrombosis (12/14), and abnormally elevated leukocytes (5). None of the patients was reported to have an intellectual disability (0/28). The majority of patients (26/30) showed clinical symptoms, and laboratory results improved after oral mannose administration. Our findings suggest that MPI-CDG should be considered in children with unexplained recurrent digestive and endocrine systems involvement, and gene examination should be performed immediately to obtain a definite diagnosis in order to begin treatment in a timely manner.
Unexpected Radiation-Induced Aortic Wall Thickening Requiring Composite Graft Technique during Off-Pump Coronary Artery Bypass Grafting
Authors: Paola Redaelli, Amando Gamba, Antonello Stefano Martino, Michele Triggiani
Journal: Case Rep Surg (2017)
MeSH terms: Case Reports

Mediastinal radiation is commonly used to treat Hodgkin's and non-Hodgkin's lymphoma, lung and breast cancer. Cardiac complications after radiation therapy are well described, although rare. A large spectrum of injuries can occur, causing long term morbidity among survivors. We describe a case of post-actinic ascending aortic wall thickening that prevented saphenous vein proximal anastomosis and was successfully managed with aortic no-touch off-pump coronary artery bypass grafting (OPCAB), 25 years after radiation therapy for Hodgkin's lymphoma.
Early bioprosthetic valve calcification with alfacalcidol supplementation
Authors: Tamaki Takano, Takamitsu Terasaki, Yuko Wada, Noburou Ohashi, Kazunori Komatsu, Daisuke Fukui, Jun Amano
Journal: J Cardiothorac Surg (2013)
MeSH terms: Aortic Valve Stenosis / etiology, Bioprosthesis / adverse effects, Calcinosis / etiology, Heart Valve Prosthesis / adverse effects, Hydroxycholecalciferols / adverse effects, Case Reports, Aged, Aortic Valve / chemistry, Aortic Valve / pathology, Aortic Valve Stenosis / chemically induced, Aortic Valve Stenosis / metabolism, Calcinosis / chemically induced, Calcinosis / metabolism, Female, Humans, Hydroxycholecalciferols / therapeutic use, Hydroxycholecalciferols, alfacalcidol

We report a case of early bioprosthetic valve calcification in a 76 year-old woman who had received supplementation with alfacalcidol, an analogue of vitamin D, for 3 years after her initial valve replacement. She underwent aortic valve replacement at the age of 71 and subsequently complained of shortness of breath. Ultrasonic cardiography revealed severe aortic stenosis and we performed a second aortic valve replacement with a bioprosthesis. Histopathologic and x-ray examination showed calcification on the explanted valve. She had not presented with any known risk for early bioprosthetic calcification, suggesting that vitamin D supplementation may accelerate calcification of bioprosthetic valves.
Profound Hyperkalemia and Anemia in a Dialysis Patient With a Gastrointestinal Bleed
Authors: Sara Biladeau, Ryan Grell
Journal: Cureus (2023)
Keywords: anesthesia for upper and lower gi, gi anesthesia, hyperkalemia induced ekg changes, massive lower gi bleeding, on dialysis, perioperative anesthesia service, perioperative medicine, preoperative evaluation, severe anemia, severe hyperkalemia
MeSH terms: Case Reports

An 80-year-old male receiving dialysis three times per week presented to the emergency room with general malaise after missing four consecutive dialysis appointments. During his workup, he was noted to have a potassium of 9.1 mmol/L, hemoglobin of 4.1 g/dL, and an electrocardiogram showing a first-degree atrioventricular (AV) block, a right bundle branch block, peaked T waves, and a wide QRS complex. During emergent dialysis and resuscitation, the patient suffered respiratory failure and was intubated. The next morning, he underwent an esophagogastroduodenoscopy (EGD), which found a healing duodenal ulcer. He was extubated the same day and was discharged in stable condition a few days later. This case appears to report the highest observed potassium coupled with significant anemia in a patient not affected by cardiac arrest.
Radiological and Clinical Findings of Multiple Cerebellar Liponeurocytoma: A Case Report
Authors: Shan Wang, Xiaopei Xu, Chao Wang
Journal: Front Surg (2021)
Keywords: brain tumor, cerebellum, computed tomography, liponeurocytoma, magnetic resonance imaging
MeSH terms: Case Reports

Background: Cerebellar liponeurocytoma is an extremely rare benign tumor which generally occurs in cerebellum and is almost always solitary. Multifocal cerebellar liponeurocytoma is exceedingly rare, only 8 cases has been reported so far. Herein we present the 9th case of multifocal cerebellar liponeurocytoma in a 70-year-old woman with the complete clinical course and comprehensive imaging findings. Case Presentation: A 70-year-old woman presented with a history of intermittent headache for 5 years. Computed tomography (CT) and magnetic resonance imaging (MRI) of the brain have been performed and suggested a diagnosis of teratoma based on the imaging findings. After the surgical resection of the lesion, histopathological and immunohistochemical analyses revealed neuronal, glial, and lipomatous components and confirmed the diagnosis of multifocal cerebellar liponeurocytoma after surgical resection. During the 2-year follow-up period, the patient showed no signs of recurrence or metastasis. Conclusion: We described the radiological characteristics and clinical course of an exceedingly rare case of multifocal cerebellar liponeurocytoma in the cerebellar vermis and temporal lobe. The clear multifocality makes this case unusual.
Guillain-Barré Syndrome Associated with COVID-19 in a Japanese Male
Authors: Yoshiki Esa, Yuta Kajiyama, Misako Kaido, Yushi Watanabe, Harutoshi Fujimura, Iwao Gohma, Kenichi Takahashi, Junya Kobayashi
Journal: Case Rep Neurol Med (2022)
MeSH terms: Case Reports

April 2021 saw a widespread outbreak of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in Osaka, Japan. We encountered the case of a 52-year-old man who had Guillain-Barré syndrome associated with coronavirus disease 2019 (COVID-19). After the relief of the respiratory symptoms owing to COVID-19, the patient experienced muscle weakness, which spread from his fingers to his extremities, and was unable to walk. Further examinations revealed mild protein elevation in the cerebrospinal fluid. In addition, nerve conduction studies showed demyelinating polyneuropathy, leading to the diagnosis of Guillain-Barré syndrome. After the administration of intravenous immunoglobulin and intravenous methylprednisolone, his symptoms drastically improved, and he was able to walk unaided 21 days after the onset of symptoms. On day 40, the patient was discharged with minimal muscle fatigue. Because Guillain-Barré syndrome associated with COVID-19 is expected to have a good prognosis, early diagnosis and treatment are important. Therefore, Guillain-Barré syndrome should be considered as a possible factor for muscle weakness during and after COVID-19 treatment.
Variable phenotypic presentations of renal involvement in Fabry disease: a case series
Authors: Sarah McCloskey, Paul Brennan, John A Sayer
Journal: F1000Res (2018)
Keywords: fabry, gla, chronic kidney disease, mutation, parapelvic cysts, proteinuria

Fabry disease is an X-linked genetic deficiency in the alpha-galactosidase enzyme resulting in intracellular accumulation of glycosphingolipids and multisystem organ dysfunction. Typically 50% of males and 20% of affected females have renal involvement, ranging from proteinuria or reduced renal function, renal parapelvic cysts and progressive renal disease ultimately requiring transplantation or dialysis. The phenotypic presentation of Fabry disease is incredibly varied and will even vary between family members with the same confirmed genetic mutation. In a cohort of patients affected by Fabry disease in the North East of England we examine the different phenotypic presentations of eight index cases (6 male, 2 female) with predominantly renal disease and the renal manifestations within their family members. The mean age of presentation was 40 years of age (range 23-59 years). Various multisystem manifestations were observed including cardiac, neurological, cerebrovascular and skin involvement. Two of the male index patients reached end stage renal disease (ESRD) requiring renal replacement therapy. Two female index patients had phenotypes limited to hypertension and proteinuria at presentation and the remaining patients had either stable or progressive chronic kidney disease at the time of diagnosis. We demonstrate the need for a high index of suspicion in order to consider Fabry disease as a diagnosis and the importance of cascade genetic screening to identify affected family members so that treatment can be initiated in a timely fashion.
Isolated Crohn's Disease of the Appendix Presenting as Acute Appendicitis in a 60-Year-Old South Asian Female: A Case Report, Review of Literature, and Follow-Up Recommendations
Authors: Pamathy Gnanaselvam, Dhanushka N Weerakoon, W A M Wijayasuriya, Vishva Samidi Mohottala, B M E S Sinhakumara, Umesh Jayarajah, Anura S K Banagala
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

The isolated appendiceal Crohn's disease without preceding bowel symptoms is a rare phenomenon, especially in older patients. In this case report, we present a 60-year-old female with isolated appendiceal Crohn's disease presenting with acute appendicitis. She presented with classical features of appendicitis with elevated inflammatory markers. She underwent an appendectomy which showed an excessively swollen, oedematous, and reddish appendix with swelling extending to the base of the caecum. Histological evaluation was suggestive of Crohn's disease, and subsequent colonoscopy was unremarkable. Following appendectomy, she was asymptomatic without any recurrence of disease. The atypical morphological appearance of the appendix should raise suspicion of Crohn's disease. This case highlights the importance of histopathological analysis of the specimen, especially in abnormal clinical findings. The prognosis of such patients seems to be good, and additional treatment is rarely needed.
Prolonged survival in patients with local chronic infection after high-grade glioma treatment: Two case reports
Authors: Peter Solár, Zdenek Mackerle, Michal Hendrych, Petr Pospisil, Radek Lakomy, Hana Valekova, Marketa Hermanova, Radim Jancalek
Journal: Front Oncol (2022)
Keywords: anaplastic astrocytoma, glioblastoma, high-grade glioma, prolonged survival, wound infection
MeSH terms: Case Reports

High-grade gliomas are primary brain tumors with poor prognosis, despite surgical treatment followed by radiotherapy and concomitant chemotherapy. We present two cases of long-term survival in patients treated for high-grade glioma and concomitant prolonged bacterial wound infection. The first patient treated for glioblastoma IDH-wildtype had been without disease progression for 61 months from the first resected recurrence. Despite incomplete chemotherapy-induced myelosuppression in the second patient with anaplastic astrocytoma IDH-mutant, she died without disease relapse after 14 years from the diagnosis due to other comorbidities. We assume that the documented prolonged survival could be related to the bacterial infection.
Abnormal Curtain Signs Identified With a Novel Lung Ultrasound Protocol in Six Dogs With Pneumothorax
Authors: Søren Boysen, Jantina McMurray, Kris Gommeren
Journal: Front Vet Sci (2019)
Keywords: fast, curtain sign, lung ultrasound, pneumothorax, point of care ultrasound
MeSH terms: Case Reports

Pneumothorax is typically ruled out sonographically by detecting a glide sign, lung pulse, and/or B lines, and ruled in by detecting the return of a glide sign and/or presence of a lung point. This case series describes novel lung ultrasound findings (abnormal curtain signs) in dogs with naturally-occurring pneumothorax. This case series also describes a novel lung ultrasound protocol that involves evaluating the curtain sign along the entire thoracoabdominal border and evaluating the ventral pleural space with the probe parallel to the ribs. Six dogs with pneumothorax (three traumatic pneumothorax and three spontaneous pneumothorax) had lung ultrasound performed. All dogs had normal synchronous curtain signs in the caudal mid-to-ventral region of the thorax and abnormal curtain signs in the caudal mid-to-dorsal thoracic regions. Five dogs had bilateral pneumothorax; four had a lung point and absence of a glide sign bilaterally, and one had a lung point identified unilaterally (a lung point was not visible on the opposite side and the glide sign was equivocal bilaterally). One dog had a unilateral pneumothorax, in which a lung point and absence of a glide sign were identified. With the probe parallel to the ribs in the ventral thorax, a small volume pleural effusion was also identified in two dogs. All dogs had mild to moderate quantities of pleural air removed via thoracentesis or chest tubes following lung ultrasound. Two distinct types of abnormal curtain sign were observed, referred to as the asynchronous curtain sign and the double curtain sign. The authors hypothesize that these abnormal curtain signs are caused by the presence of free air within and/or cranial to the costophrenic recess. To the authors' knowledge, this is the first description of pneumothorax-induced abnormal curtain signs, and the first report of evaluating the curtain sign to diagnose pneumothorax in any species. Further research is required to determine the sensitivity and specificity of asynchronous and double curtain signs in diagnosing pneumothorax, and to investigate whether probe orientation parallel to the ribs in the ventral thorax will improve detection of pleural effusion.