OpenMed/multicare-articles huggingface dataset:
Drug Hypersensitivity due to Azathioprine with Elevated Procalcitonin
Authors: Tania Ahuja, Frank R Chung, Tania Ruiz-Maya
Journal: Case Rep Dermatol Med (2018)
MeSH terms: Case Reports

We present a case of azathioprine hypersensitivity presenting as sepsis with elevated procalcitonin in a 68-year-old man with myasthenia gravis. The patient presented with fever, chills, nausea, vomiting, and headache. He developed numerous 1 cm erythematous papules over his upper torso. Infectious workup including bacteriological tests and microbial cultures was negative and a skin biopsy was performed which revealed suppurative folliculitis with eosinophils, consistent with drug hypersensitivity. Notably, acute phase reactants including C-reactive protein and procalcitonin were elevated upon presentation, likely secondary to drug hypersensitivity.
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy
Authors: Joaquim Calado, Augusta Gaspar, Carla Clemente, José Rueff
Journal: BMC Med Genet (2005)
MeSH terms: Hyperuricemia / genetics, Kidney Diseases / genetics, Mucoproteins / genetics, Mutation, Missense / genetics, Case Reports, Research Support, Non-U.S. Gov't, Female, Genes, Dominant, Heterozygote, Humans, Middle Aged, Uromodulin, Mucoproteins, UMOD protein, human, Uromodulin

Background:
Familial Juvenile Hyperuricemic Nephropathy is an autosomal dominant nephropathy, characterized by decreased urate excretion and progressive interstitial nephritis. Mutations in the uromodulin coding UMOD gene have been found responsible for the disease in some families.
Case presentation:
We here describe a novel heterozygous p.K307T mutation in an affected female with hyperuricemia, renal cysts and renal failure. The proband's only son is also affected and the mutation was found to segregate with the disease.
Conclusions:
This mutation is the fourth reported in exon 5. Initial studies identified a mutation clustering in exon 4 and it has been recommended that sequencing this exon alone should be the first diagnostic test in patients with chronic interstitial nephritis with gout or hyperuricemia. However, regarding the increasing number of mutations being reported in exon 5, we now suggest that sequencing exon 5 should also be performed.
Case report: Personalized adapted motor activity in a COVID-19 patient complicated by critical illness polyneuropathy and myopathy
Authors: Oscar Crisafulli, Marta Baroscelli, Luca Grattarola, Giuseppe Tansini, Cristian Zampella, Giuseppe D'Antona
Journal: Front Physiol (2022)
Keywords: ama, cim, cip, case report, post-covid-19

Background: COVID-19 may require hospitalization in an intensive care unit (ICU) and is often associated with the onset of critical illness polyneuropathy (CIP) and critical illness myopathy (CIM). Due to the spread of the disease around the world, the identification of new rehabilitation strategies for patients facing this sequence of events is of increasing importance. Case presentation: We report the clinical presentation and the beneficial effects of a prolonged, supervised adapted motor activity (AMA) program in a highly deconditioned 61-year-old male COVID-19 patient discharged from the ICU and complicated by residual CIP and CIM. The program included aerobic, strength, gait, and balance training (1 h, 2 sessions per week). Measures: Pulmonary (spirometry), metabolic (indirect calorimetry and bioimpedance), and neuromuscular functions (electromyography) were evaluated at baseline and after 1 year of training. Results: Relative to baseline, an amelioration of several spirometric parameters such as vital capacity (VC, +40%), total lung capacity (TLC, +25%), and forced expiratory volume in 1 s (FEV1, +28%) was appreciable. Metabolic parameters such as body water (60%-46%), phase angle (3.6°-5.9°), and respiratory quotient (0.92-0.8) returned to the physiological range. Electromyographic parameters were substantially unchanged. The overall amelioration in clinical parameters resulted in a significant improvement of patient autonomy and the quality of life. Conclusion: Our results highlight the importance of AMA for counteracting respiratory, metabolic, and functional but not neuromuscular impairments in COVID-19 patients with residual CIM and CIP.
Muckle-Wells Syndrome Across Four Generations in One Czech Family: Natural Course of the Disease
Authors: Šárka Fingerhutová, Jana Fráňová, Eva Hlaváčková, Eva Jančová, Leona Procházková, Kamila Beránková, Markéta Tesařová, Eva Honsová, Pavla Doležalová
Journal: Front Immunol (2019)
Keywords: aa amyloidosis, muckle-wells syndrome (mws), cryopyrin-associated periodic syndromes (caps), cryopyrinopathy, familial cold autoinflammatory syndrome (fcas), hearing loss, rash
MeSH terms: Cryopyrin-Associated Periodic Syndromes / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Child, Preschool, Cryopyrin-Associated Periodic Syndromes / diagnosis, Cryopyrin-Associated Periodic Syndromes / physiopathology, Cryopyrin-Associated Periodic Syndromes / therapy, Czech Republic, Disease Progression, Family Characteristics, Family Health, Female, Follow-Up Studies, Humans, Infant, Interleukin-1 / antagonists & inhibitors, Male, Middle Aged, Mutation, Pedigree, Phenotype, Prospective Studies, Retrospective Studies, Young Adult, Interleukin-1

Background: Muckle-Wells syndrome (MWS) represents a moderate phenotype of cryopyrinopathies. Sensorineural hearing loss and AA amyloidosis belong to the most severe manifestations of uncontrolled disease. Simultaneous discovery of MWS in four generations of one large kindred has enabled us to document natural evolution of untreated disease and their response to targeted therapy. Methods: A retrospective case study, clinical assessment at the time of diagnosis and 2-year prospective follow-up using standardized disease assessments were combined. Results: Collaborative effort of primary care physicians and pediatric and adult specialists led to identification of 11 individuals with MWS within one family. Presence of p.Ala441Val mutation was confirmed. The mildest phenotype of young children suffering with recurrent rash surprised by normal blood tests and absence of fevers. Young adults all presented with fevers, rash, conjunctivitis, and arthralgia/arthritis with raised inflammatory markers. Two patients aged over 50 years suffered with hearing loss and AA amyloidosis. IL-1 blockade induced disease remission in all individuals while hearing mildly improved or remained stable in affected patients as did renal function in one surviving individual with amyloidosis. Conclusions: We have shown that severity of MWS symptoms gradually increased with age toward distinct generation-specific phenotypes. A uniform trajectory of disease evolution has encouraged us to postpone institution of IL-1 blockade in affected oligosymptomatic children. This report illustrates importance of close interdisciplinary collaboration.
Polyostotic fibrous dysplasia with epiphyseal involvement in long bones: a case report
Authors: Tomoaki Fukui, Teruya Kawamoto, Toshiaki Hitora, Yoshiki Yamagami, Toshihiro Akisue, Tetsuji Yamamoto
Journal: Case Rep Orthop (2013)

Fibrous dysplasia (FD) is an uncommon, but well-known benign skeletal disorder. In cases affecting long bones, FD is commonly recognized to locate in the diaphyses or the metaphyses and to spare the epiphyses. In this paper, we present a rare case of polyostotic FD in a 13-year-old girl with unilateral multiple epiphyseal lesions arising in the femur, the tibia, and the fibula with the growth plates.
Pediatric patients with mesenteric cystic lymphangioma: A case series
Authors: Gunadi, Gibran Kashogi, Dedi Prasetya, Aditya Rifqi Fauzi, Eddy Daryanto, Andi Dwihantoro
Journal: Int J Surg Case Rep (2019)
Keywords: acute abdomen, asymptomatic abdominal mass, mesenteric cystic lymphangioma, radiologic findings

Introduction:
Mesenteric cystic lymphangioma (MCL) is a benign malformation of the lymphatic system. MCL seldomly occurs with a very rare incidence of around 1: 250,000. This neoplasm is more common in pediatric patients. Symptoms can appear with various clinical features ranging from asymptomatic abdominal mass to acute abdomen.
Presentation of cases:
Here we report four pediatric patients with MCL: two males presented with bilious vomiting and ileus, one female with abdominal pain, and one female with asymptomatic abdominal mass. All patients underwent explorative laparotomy and mass excision was done and/or marsupialization. All patients were discharged at the third - fourth postoperative day uneventfully.
Discussion:
Although benign, lymphangioma can cause other symptoms such as bleeding, torsion, or lymphangioma rupture. Therefore, MCL should be considered as one of the differential diagnoses in acute abdominal and abdominal mass cases in children.
Conclusion:
In conclusion, although sometimes asymptomatic and found incidentally, the MCL should be resected because it has the potential to grow and invade vital organs and cause life-threatening complications.
Jitteriness/Anxiety Syndrome Developing Immediately following Initiation of Oral Administration of Sertraline
Authors: Toshinori Nakamura, Nobuhiro Sugiyama, Daimei Sasayama, Tetsuya Hagiwara, Shinsuke Washizuka
Journal: Case Rep Psychiatry (2017)
MeSH terms: Case Reports

Here, we report our experience with patients in whom jitteriness/anxiety syndrome developed immediately following the start of oral sertraline administration. Administration was discontinued in these patients on day 2, and the jitteriness/anxiety syndrome improved the following day. Jitteriness/anxiety syndrome may develop immediately following oral administration of even low doses of sertraline, and improvement can be expected if sertraline is promptly discontinued.
Neural Oscillation During Mental Imagery in Sport: An Olympic Sailor Case Study
Authors: Dagmara Budnik-Przybylska, Adrian Kastrau, Patryk Jasik, Maria Kaźmierczak, Łukasz Doliński, Paweł Syty, Marta Łabuda, Jacek Przybylski, Selenia di Fronso, Maurizio Bertollo
Journal: Front Hum Neurosci (2021)
Keywords: eeg, alpha, athlete, attentional focus, flow state, imagery, neural efficiency, transient hypofrontality hypothesis

The purpose of the current study was to examine the cortical correlates of imagery depending on instructional modality (guided vs. self-produced) using various sports-related scripts. According to the expert-performance approach, we took an idiosyncratic perspective analyzing the mental imagery of an experienced two-time Olympic athlete to verify whether different instructional modalities of imagery (i.e., guided vs. self-produced) and different scripts (e.g., training or competition environment) could differently involve brain activity. The subject listened to each previously recorded script taken from two existing questionnaires concerning imagery ability in sport and then was asked to imagine the scene for a minute. During the task, brain waves were monitored using EEG (32-channel g. Nautilus). Our findings indicate that guided imagery might induce higher high alpha and SMR (usually associated with selective attention), whereas self-produced imagery might facilitate higher low alpha (associated with global resting state and relaxation). Results are discussed in light of the neural efficiency hypothesis as a marker of optimal performance and transient hypofrontality as a marker of flow state. Practical mental training recommendations are presented.
A journey towards inclusive education; a case study from a 'township' in South Africa
Authors: Rosemary Luger, Debbie Prudhomme, Ann Bullen, Catherine Pitt, Martha Geiger
Journal: Afr J Disabil (2012)
MeSH terms: Case Reports

The purpose of this case study was to relate part of the journey to appropriate education for two young children with physical disabilities in a low socio-economic peri-urban informal settlement - or 'township' - in South Africa. The part of the on-going journey described here spanned four-and-a-half years and included the two children, their families, their teachers, their community and a small team of rehabilitation professionals working for a non-profit organisation in the area. The rehabilitation professionals' goals were to provide support for the children, their families, their current special care centre and the school(s) they would attend in the future. The steps from the special care centre, to a mainstream early childhood development (ECD) centre for both of them, and then on to (a) a school for learners with special educational needs (LSEN) for one child and (b) a mainstream primary school for the other, are described. Challenges encountered on the way included parental fears, community attitudes and physical accessibility. Practical outcomes included different placements for the two children with implications and recommendations for prioritised parent involvement, individual approaches, interdisciplinary and community-based collaborations. Recommendations are given for clinical contexts, curricula and policy matters; for research and for scaling up such a programme through community workers.
Multiple cardiovascular complications of COVID-19 infection in a young patient: a case report
Authors: Hammam Rasras, Abdelaziz Boudihi, Anass Hbali, Nabila Ismaili, Noha El Ouafi
Journal: Pan Afr Med J (2021)
Keywords: covid-19, cardiogenic shock, case report, myocarditis, thrombosis
MeSH terms: COVID-19 / complications, Myocarditis / virology, Shock, Cardiogenic / virology, Thrombosis / virology, Case Reports, Female, Heart Ventricles / pathology, Heart Ventricles / virology, Humans, Ischemia / etiology, Lower Extremity / blood supply, Middle Aged, Venous Thrombosis / virology

COVID-19 infection is responsible for many complications, which can lead to a high risk of mortality in some patients. Among them are cardiovascular complications which are classified as the most severe. We report a case of a young woman, with no relevant pathological history, admitted for COVID-19 infection, complicated by myocarditis with severe ventricular dysfunction, cardiogenic shock and a large thrombosis into the left ventricle (LV) that was responsible for a left lower limb ischemia associated with a deep venous thrombosis of right lower limb.
Magnetic Compression Anastomosis in Long-Gap Esophageal Atresia Gross Type A: A Case Report
Authors: Mark Bremholm Bremholm Ellebaek, Niels Qvist, Lars Rasmussen
Journal: European J Pediatr Surg Rep (2018)
Keywords: esophageal atresia, long gap, magnamosis
MeSH terms: Case Reports

Esophageal atresia (EA) Gross type A (long-gap without tracheoesophageal fistula) is a rare and a surgical challenging form of EA that constitutes ∼6% of the children born with EA. We present the seventh reported case with successful esophagoesophagostomy obtained by magnetic compression of a long-gap EA type A without thoracotomy.
A de novo KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature Data
Authors: Gianluigi Laccetta, Simona Fiori, Matteo Giampietri, Annarita Ferrari, Valentina Cetica, Manuela Bernardini, Francesca Chesi, Sara Mazzotti, Elena Parrini, Massimiliano Ciantelli, Andrea Guzzetta, Paolo Ghirri
Journal: Front Pediatr (2019)
Keywords: kcnq2, benign familial neonatal convulsions, mutation, phenobarbital, seizures
MeSH terms: Case Reports

Among neonatal epileptic syndromes, benign familial neonatal seizures (BFNS) are often due to autosomal-dominant mutations of the KCNQ2 gene. Seizures are usually characterized by asymmetric tonic posturing with apnea with onset in the first 7 days of life; they may even occur more than 10 times per day or evolve into status epilepticus. The delivery course of our patient was uneventful and family history was negative; on the second day of life the baby became pale, rigid, and apnoic during breastfeeding and appeared jittery and irritable when stimulated or examined. At age 3 days, she experienced clusters of generalized tonic seizures with pallor, desaturation, bradycardia, and partial response to intravenous phenobarbital; during her 4th and 5th days of life, three episodes of tonic seizures were noticed. At age 6 days, the patient experienced about 10 episodes of tonic seizures involving both sides of the body, which gradually responded to intravenous phenytoin. Electroencephalograms revealed abnormalities but brain MRI was normal. The patient is seizure-free since postnatal day 21; she is now 12 months old with cognitive development within normal limits at Bayley III Scale and mild motor delay. The patient is on maintenance therapy with phenobarbital since she was 7 months old. A de novo heterozygous mutation (c.853C>T/p.P285S) in the KCNQ2 gene was identified. We therefore describe a case of de novo KCNQ2-related neonatal convulsions with necessity of multiple anticonvulsants for the control of seizures, mutation occurring in the pore channel of the voltage-gated potassium channel subfamily Q member 2 associated with a likely benign course; furthermore, the same mutation of the KCNQ2 gene and a similar one (c.854C>A/p.P285H) have already been described in association with Ohtahara syndrome. Probably acquired environmental, perinatal and genetic risk factors are very important in determining the different phenotype; we hope that the rapid progress of analysis tools in molecular diagnosis can also be used in the search of an individualized therapeutic approach for these patients.
Giant trochanteric pressure sore: Use of a pedicled chimeric perforator flap for cover
Authors: Sandeep Mehrotra
Journal: Indian J Plast Surg (2009)
MeSH terms: Case Reports

Pressure sores are increasing in frequency commensurate with an ageing population with multi-system disorders and trauma. Numerous classic options are described for providing stable wound cover. With the burgeoning knowledge on perforator anatomy, recent approaches focus on the use of perforator-based flaps in bedsore surgery. A giant neglected trochanteric pressure sore in a paraplegic is presented. Since conventional options of reconstruction appeared remote, the massive ulcer was successfully managed by a chimeric perforator-based flap. The combined muscle and fasciocutaneous flaps were raised as separate paddles based on the anterolateral thigh perforator branches and provided stable cover without complications. Perforators allow versatility in managing complex wounds without compromising on established principles.
Simultaneous development of adenocarcinoma and gastrointestinal stromal tumor (GIST) in the stomach: case report
Authors: Daigo Yamamoto, Yoshinori Hamada, Yu Tsubota, Katsuhiro Kawakami, Chizuko Yamamoto, Mitsuo Yamamoto
Journal: World J Surg Oncol (2012)
MeSH terms: Adenocarcinoma / complications, Adenocarcinoma / pathology, Gastrointestinal Stromal Tumors / complications, Gastrointestinal Stromal Tumors / pathology, Neoplasms, Multiple Primary / etiology, Neoplasms, Multiple Primary / pathology, Stomach Neoplasms / complications, Stomach Neoplasms / pathology, Case Reports, Adenocarcinoma / surgery, Antigens, CD34 / analysis, Gastrointestinal Stromal Tumors / surgery, Humans, Male, Middle Aged, Neoplasms, Multiple Primary / surgery, Prognosis, Stomach Neoplasms / surgery, Antigens, CD34

Background:
Gastrointestinal stromal tumors (GISTs) and adenocarcinoma are distinct neoplasms originating from different cell layers. Approximately 20% of patients with GIST develop other cancers.
Case presentation:
We report a case of the coexistence of adenocarcinoma and gastrointestinal stromal tumor (GIST). Gastric endoscopy showed the ulcerated tumor with bleeding along the lesser curvature of the proximal stomach and a submucosal nodule that measured about 3 cm in diameter in the lower part of the stomach body. Their pathological examination showed gastric cancer (poorly differentiated diffuse adenocarcinoma) and GIST (low-risk category). Further, immunohistochemical staining for C-kit and CD34 was positive, while that for SMA and S-100 was negative.
Conclusion:
Although it is not easy to speculate on the coexistence of adenocarcinoma and GIST, pre-and post-operative diagnoses may be essential, and such cancer development is not considered to be unusual.
Successful Treatment of Refractory and Relapsed CNS Acute Lymphoblastic Leukemia With CD-19 CAR-T Immunotherapy: A Case Report
Authors: Kyaw Thu Htun, Qiang Gong, Le Ma, Ping Wang, Ya Tan, Guangsheng Wu, Jieping Chen
Journal: Front Oncol (2021)
Keywords: acute lymphoblastic leukemia, car-t, case report, central nervous system, refractory and relapsed
MeSH terms: Case Reports

In recent decades, survival was significantly improved in B cell acute lymphoblastic leukemia (B-ALL) patients. But refractory and relapsed B-ALL still has aggressive clinical behavior and poor prognosis. Especially, the patients with central nervous system infiltration is very difficult to achieve complete remissions with routine treatment. Chimeric antigen receptor-modified T-cell therapy targeting CD-19 has shown to be a beneficial treatment approach in refractory and relapsed B cell acute lymphoblastic leukemia (r/r ALL). However, there are very few studies reporting to treatment of refractory and relapsed B cell ALL with central nervous system infiltration. Here, we reported one single case of a patient diagnosed with relapsed B cell ALL with CNS infiltration who was successfully treated by second generation CAR containing a co-stimulator CD28 or 4-1BB therapy. Long-term proliferation of CAR-T cells in peripheral blood and bone marrow was observed more than 18 months. After CAR-T treatment, the patient got toxicity of grade 1 cytokine release syndrome and achieved significantly 36 months event free survival of follow-up. It is suggested that CD-19 CAR containing CD28 or 4-1BB costimulatory may be an effective therapy in refractory and relapsed B cell ALL with central nervous system infiltration. Its toxicity is mild, and its safety is high. Clinical Trial Registration:ClinicalTrials.gov Identifier: NCT02349698.