OpenMed/multicare-articles huggingface dataset:
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier
Authors: Paola Origone, Fabio Gotta, Merit Lamp, Lucia Trevisan, Alessandro Geroldi, Davide Massucco, Matteo Grazzini, Federico Massa, Flavia Ticconi, Matteo Bauckneht, Roberta Marchese, Giovanni Abbruzzese, Emilia Bellone, Paola Mandich
Journal: Cerebellum Ataxias (2018)
Keywords: incomplete penetrance, sca17, spinocerebellar ataxia, tbp gene
MeSH terms: Case Reports

Background:
Spinocerebellar ataxia 17 (SCA17) is one of the most heterogeneous forms of autosomal dominant cerebellar ataxias with a large clinical spectrum which can mimic other movement disorders such as Huntington disease (HD), dystonia and parkinsonism. SCA17 is caused by an expansion of CAG/CAA repeat in the Tata binding protein (TBP) gene. Normal alleles contain 25 to 40 CAG/CAA repeats, alleles with 50 or greater CAG/CAA repeats are pathological with full penetrance. Alleles with 43 to 49 CAG/CAA repeats were also reported and their penetrance is estimated between 50 and 80%. Recently few symptomatic individuals having 41 and 42 repeats were reported but it is still unclear whether CAG/CAA repeats of 41 or 42 are low penetrance disease-causing alleles. Thus, phenotypic variability like the disease course in subject with SCA17 locus restricted expansions remains to be fully understood.
Case presentation:
The patients was a 63-year-old woman who, at 54 years, showed personality changes and increased frequency of falls. At 55 years of age neuropsychological tests showed executive attention and visuospatial deficit. At the age of 59 the patient developed dysarthria and a progressive cognitive deficit. The neurological examination showed moderate gait ataxia, dysdiadochokinesia and dysmetria, dysphagia, dysarthria and abnormal saccadic pursuit, severe axial asynergy during postural changes, choreiform dyskinesias. Molecular analysis of the TBP gene demonstrated an allele with 41 repeat suggesting that 41 CAG/CCG TBP repeats could be an allele associated with the full clinical spectrum of SCA17.
Conclusions:
The described case with the other similar cases described in the literature suggests that 41 CAG/CAA trinucleotides should be considered as critical threshold in SCA17. We suggest that SCA17 diagnosis should be suspected in patients presenting with movement disorders associated with other neurodegenerative signs and symptoms.
Acute unilateral proptosis in childhood: suspect myeloid sarcoma
Authors: Singh Manpreet, Snehi Sagarika, Rastogi Pulkit, Jayakumar Kalaivani, Kaur Manpreet, Gupta Pankaj
Journal: Rom J Ophthalmol (2021)
Keywords: acute myeloid leukemia, acute proptosis, childhood proptosis, myeloid sarcoma, proptosis
MeSH terms: Exophthalmos / etiology, Orbital Neoplasms / complications, Sarcoma, Myeloid / complications, Case Reports, Acute Disease, Biopsy, Child, Diagnosis, Differential, Exophthalmos / diagnosis, Female, Humans, Orbital Neoplasms / diagnosis, Sarcoma, Myeloid / diagnosis, Tomography, X-Ray Computed

As the first and only presenting feature of acute myeloid leukemia (AML), unilateral proptosis in children is uncommon. We report the cases of two girls who had no systemic clinical manifestations of AML. Orbital imaging showed space-occupying infiltrating lesions without surrounding bone erosion. Incisional biopsy and immunohistochemistry were diagnostic for myeloid sarcoma. Systemic workup and bone marrow examination showed features of AML. Systemic chemotherapy was administered to both children, who responded well to the treatment. Myeloid sarcoma should be kept in the differentials of the children presenting with isolated proptosis. Immunohistochemistry may provide an accurate diagnosis and early treatment may lead to a prompt recovery with a good prognosis.
46,XX Testicular Disorders of Sex Development With DMD Gene Mutation: First Case Report Identified Prenatally by Integrated Analyses in China
Authors: Jianlian Deng, Haoqing Zhang, Caiyun Li, Hui Huang, Saijun Liu, Huanming Yang, Kaili Xie, Qiong Wang, Dongzhu Lei, Jing Wu
Journal: Front Genet (2020)
Keywords: 46,xx testicular dsd, duchenne muscular dystrophy, genetic counseling, integrated analyses, prenatal
MeSH terms: Case Reports

The present study describes the first prenatally diagnosed 46,XX testicular disorders of sex development (46,XX testicular DSD) case with DMD gene mutation by integrated analyses in a Chinese pedigree. Chromosome karyotype G-banding analysis of the proband showed a 46,XX karyotype, but B-ultrasound analysis demonstrated the existence of scrotum, testis and penis which inferred a male sexual differentiation. Aneuploidy and copy number variation (CNV) detection by low-coverage single-end whole genome sequencing (WGS) revealed a de novo SRY (sex-determining region Y) gene positive fragment of 224.34 kb length (chrY:2,649,472-2,873,810) which explained the gonadal/genital-chromosomal inconsistency in the proband. Additionally, targeted-region-capture-based DMD gene sequencing and Sanger verification confirmed a widely reported pathogenic heterozygous nonsense mutation (NM_004006, c.9100C>T, p.Arg3034Ter) in the dystrophin-coding gene named DMD. This study emphasizes that integrated analyses of the imaging results, cytogenetics, and molecular features can play an important role in prenatal diagnosis. It requires the combination of more detection techniques with higher resolution than karyotyping to determine the genetic and biological sex of fetuses in prenatal diagnosis. To conclusively determine both the biological and genetic sex of the fetus at the time of prenatal diagnosis particularly in cases that involve X-linked conditions is of vital importance, which would crucially influence the decision-making regarding abortions. This study will help in prenatal diagnosis of DMD in future, also providing a new perspective that enables the genetic diagnosis of sex reversal in pregnancy. Moreover, genetic counseling/analysis for early diagnosis and pre-symptom interventions are warranted.
A Rare Cause of Childhood Cerebellitis-Influenza Infection: A Case Report and Systematic Review of Literature
Authors: Şule Gökçe, Zafer Kurugol, Aslı Aslan, Candan Çiçek
Journal: Case Rep Pediatr (2017)
MeSH terms: Case Reports

Acute cerebellitis is a benign neurologic condition generally caused by viral or bacterial infections. Influenza associated cerebellitis is extremely rare; a 6-year-old boy with acute cerebellitis, who presented with fever, vomiting, weakness, febrile seizure, and acute cerebellar features, is discussed in this article.
Mirizzi syndrome with an unusual type of biliobiliary fistula-a case report
Authors: Tsutomu Kawaguchi, Tadao Itoh, Kazuhiro Yoshii, Eigo Otsuji
Journal: Surg Case Rep (2015)
Keywords: biliobiliary fistula, chronic cholecystitis, mirizzi syndrome, surgery

Gallstone obstruction of the cystic duct, resulting in chronic cholecystitis and pressure necrosis leads to the formation of biliobiliary fistula (BBF). We herein reported a case of Mirizzi syndrome (MS) with an unusual type of BBF (Corlette type I) that was successfully managed by a staged treatment strategy. The patient was diagnosed with a solitary gallstone, marked atrophy of the gallbladder, and BBF and underwent mucosal incineration of the atrophic gallbladder and simple closure, followed by extirpation of gallbladder. Although an optimal treatment strategy has not yet been established for MS with BBF because of its rarity and anatomical variations in fistulas, the current treatment strategy may be applicable. In conclusion, clinicians need to carefully diagnose and evaluate chronic cholecystitis in MS with BBF and adopt an optimal treatment strategy to avoid the complication associated with this disease.
Minimally Invasive Subcortical Parafascicular Transsulcal Access for Clot Evacuation (Mi SPACE) for Intracerebral Hemorrhage
Authors: Benjamin Ritsma, Amin Kassam, Dariush Dowlatshahi, Thanh Nguyen, Grant Stotts
Journal: Case Rep Neurol Med (2014)

Background. Spontaneous intracerebral hemorrhage (ICH) is common and causes significant mortality and morbidity. To date, optimal medical and surgical intervention remains uncertain. A lack of definitive benefit for operative management may be attributable to adverse surgical effect, collateral tissue injury. This is particularly relevant for ICH in dominant, eloquent cortex. Minimally invasive surgery (MIS) offers the potential advantage of reduced collateral damage. MIS utilizing a parafascicular approach has demonstrated such benefit for intracranial tumor resection. Methods. We present a case of dominant hemisphere spontaneous ICH evacuated via the minimally invasive subcortical parafascicular transsulcal access clot evacuation (Mi SPACE) model. We use this report to introduce Mi SPACE and to examine the application of this novel MIS paradigm. Case Presentation. The featured patient presented with a left temporal ICH and severe global aphasia. The hematoma was evacuated via the Mi SPACE approach. Postoperative reassessments showed significant improvement. At two months, bedside language testing was normal. MRI tractography confirmed limited collateral injury. Conclusions. This case illustrates successful application of the Mi SPACE model to ICH in dominant, eloquent cortex and subcortical regions. MRI tractography illustrates collateral tissue preservation. Safety and feasibility studies are required to further assess this promising new therapeutic paradigm.
The association between workplace violence and physicians' and nurses' job satisfaction in Macau
Authors: Teris Cheung, Paul H Lee, Paul S F Yip
Journal: PLoS One (2018)
MeSH terms: Nurses / psychology, Physicians / psychology, Workplace Violence / psychology, Adult, Aggression, Bullying, Cross-Sectional Studies, Female, Humans, Job Satisfaction, Macau, Male, Middle Aged, Personnel Turnover, Self Report, Sexual Harassment, Stress, Psychological / psychology, Surveys and Questionnaires, Workplace Violence / trends

Background:
This paper describes the association between workplace violence and job satisfaction among physicians and nurses in Macau. Convenience sampling was sourced from six health centers under the Macau Health Bureau.
Methods:
This study uses a cross-sectional self-administrative survey. The study used case studies research instruments for workplace violence in the health sector by country (from the ILO, ICN, WHO, PSI), the Minnesota Satisfaction Questionnaire and Perceived Stress Scale. The data collection period spanned from August to December, 2014.
Data analysis:
Multiple logistic regression examines levels of intrinsic and extrinsic satisfaction in physicians and nurses and significant correlates affecting their job satisfaction.
Results:
A total of 720 (14.9% physicians) participants were recruited. 57.2% of participants reported physical and psychological workplace violence in the preceding year. The most common forms of workplace violence were verbal abuse (53.4%), physical assault (16.1%), bullying / harassment (14.2%), sexual harassment (4.6%) and racial harassment (2.6%). Nurses were at a significantly higher risk of physical assault and verbal abuse compared to physicians. Patients, patients' relatives, and colleagues were the main perpetrators. Worry about WPV, on-call duty and shift work, experience of bullying and verbal abuse and employment sector emerged as significant correlates affecting the intrinsic and extrinsic job satisfaction of physicians and nurses. Frontline staff, aged 30 and 39, coming from an ethnic minority, and perceived stress were significant correlates affecting nurses' job satisfaction.
Conclusions:
WPV remains a significant concern in healthcare settings in Macau. Stakeholders should legally enforce a zero-tolerance policy towards WPV within healthcare workplaces. WPV is detrimental to healthcare professionals' mental wellbeing, risking irreversible physical and psychological harm for its victims.
Ponatinib as a Valid Alternative Strategy in Patients with Blast Crisis-Chronic Myeloid Leukemia Not Eligible for Allogeneic Stem Cells Transplantation and/or Conventional Chemotherapy: Report of a Case
Authors: Cristina Bucelli, Daniele Cattaneo, Valeria Ferla, Manuela Zappa, Caterina de Benedittis, Simona Soverini, Alessandra Iurlo
Journal: Case Rep Hematol (2017)
MeSH terms: Case Reports

Currently, imatinib and dasatinib are the only tyrosine-kinase inhibitors approved in the US and Europe for the treatment of blast crisis of chronic myeloid leukemia (BC-CML) at diagnosis, while ponatinib is the only inhibitor used in patients bearing T315I mutation. Here we report the case of a 61-year-old man diagnosed with B-cell lymphoid BC-CML, initially treated with imatinib 800 mg day and then with dasatinib 140 mg day because of intolerance. A complete cytogenetic response (CCyR) was achieved at three months; however, three months later a relapse was observed, and the T315I mutation was detected. Ponatinib 45 mg once daily was then started together with a short course of chemotherapy. Bone marrow evaluation after six months of therapy showed the regaining of CCyR, together with the achievement of a deep molecular response. However, one year from ponatinib start the patient experienced a new disease relapse; he was effectively treated with ponatinib and chemotherapy once again, but in the meanwhile an ischemic stroke was detected. This case report confirms the high efficacy of ponatinib monotherapy in BC-CML patients, representing a valid option for non-allogeneic stem cells transplantation eligible cases and the only one available for those carrying the T315I mutation.
Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health
Authors: Luigi Vimercati, Domenica Cavone, Francesco Fortarezza, Maria Celeste Delfino, Romina Ficarella, Angela Gentile, Angela De Palma, Giuseppe Marulli, Luigi De Maria, Concetta Caporusso, Andrea Marzullo, Antonio d'Amati, Daniele Egidio Romano, Antonio Caputi, Stefania Sponselli, Gabriella Serio, Federica Pezzuto
Journal: Front Oncol (2022)
Keywords: bap1, bap1 syndrome, epidemiological surveillance, familial cluster, genetic screening, mesothelioma, public health
MeSH terms: Case Reports

BRCA-1 associated protein 1 (BAP1) tumour predisposition syndrome (TPDS) is a hereditary condition characterised by germline mutation of the tumour suppressor BAP1. This disorder is associated with the development of various benign and malignant tumours, mainly involving the skin, eyes, kidneys, and mesothelium. In this article, we report the case of a man recruited through the Apulia (Southern Italy) Mesothelioma Regional Operational Centre of the National Register of Mesotheliomas, who suffered from uveal melanoma, renal cancer, and mesothelioma, and a familial cluster of BAP1 germline mutations demonstrated by molecular analyses. The family members of the proband developed multiple malignancies. As tumours arising in this context have specific peculiarities in terms of clinical behaviour, identification of this condition through appropriate genetic counselling should be considered for adequate primary, secondary, and tertiary prevention measures for offspring.
Primary leiomyosarcoma of the submandibular gland: a case report
Authors: Mohamed Reda El Ochi, Hafsa Chahdi, Issam Rharrassi, Abderrahman Albouzidi, Mohamed Oukabli
Journal: BMC Clin Pathol (2015)
Keywords: gland, leiomyosarcoma, salivary, submandibulary
MeSH terms: Case Reports

Background:
Leiomyosarcoma is a rare malignant mesenchymal tumor that represents 5-7 % of all soft tissue sarcomas. The occurrence of this tumor in the salivary glands is exceptional. Only five cases are reported in the submandibular gland.
Case presentation:
A 65-year-old white Moroccan woman presented with a history of progressive right submandibular swelling which had grown over a period of 8 months. Clinical examination showed a submandibular painless, mobile and hard mass without cervical lymphadenopathy. Ultrasonography and computed tomography revealed a solid and heterogeneous mass measuring 4 × 2 cm involving the submandibular gland. A resection of the gland was performed. Pathological findings were consistent with primary leiomyosarcoma of the submandibular gland. No recurrence occurred after two months of follow-up.
Conclusion:
Primary leiomyosarcoma of the submandibular gland is an extremely rare mesenchymal tumor. Clinical and radiological features are not specific. Differential diagnosis includes metastatic leiomyosarcoma and gastrointestinal stromal tumor, myoepithelioma, sarcomatoid carcinoma, melanoma and other sarcomas. Little is known about the overall biologic behavior of this tumor, but the prognosis seems to be poor.
Anticipation Avoids Adversity: Anesthetic Management of a Case of Facioscapulohumeral Dystrophy (FSHD)
Authors: Seyed Ahamed, Ramji Swaminathan
Journal: Cureus (2023)
Keywords: anaesthesia, fascioscapulohumeral dystrophy, muscular dystrophies, neuromuscular monitoring, train of four
MeSH terms: Case Reports

Patients with muscular dystrophies, especially those pauci-symptomatic presenting for surgery pose a complex problem for the anesthesiologist in preparing, optimizing and performing anesthesia. A myriad of complications including cardiac, respiratory, rhabdomyolysis, hyperkalemia, increased sensitivity to muscle relaxants etc., influence the anesthetic technique and recovery. Preoperative identification and appropriate choice of anesthesia technique can prevent most of the adverse events during anesthesia. We present a case of facioscapulohumeral dystrophy (FSHD) presenting for emergency appendectomy. Preoperative investigations and lung function were adequate. The patient underwent general anesthesia with propofol, cisatarcurium, and remifentanil and was maintained on total IV anesthesia for the duration of surgery. Continuous neuromuscular monitoring was carried out at two sites and the patient responded normally to intubating dose of cisatracurium and subsequent top-up doses, showing no increased sensitivity or need for dose reduction. The patient was hemodynamically stable with propofol and remifentanil infusions, with inhalational agents purposefully avoided. The patient was reversed with anticholinesterase and good train-of-four (TOF) ratio (>90%) was ensured before being shifted to recovery. The patient had a further uneventful course in the hospital.
Mixed Hypertrophic and Dilated Phenotype of Cardiomyopathy in a Patient With Homozygous In-Frame Deletion in the MyBPC3 Gene Treated as Myocarditis for a Long Time
Authors: Olga Blagova, Indira Alieva, Eugenia Kogan, Alexander Zaytsev, Vsevolod Sedov, S Chernyavskiy, Yulia Surikova, Ilya Kotov, Elena V Zaklyazminskaya
Journal: Front Pharmacol (2020)
Keywords: mybpc3 gene, bi-allelic mutations, dilated cardiomyopathy, endomyocardial biopsy, heart failure progression, hypertrophic cardiomyopathy, myocarditis
MeSH terms: Case Reports

Hypertrophic cardiomyopathy (HCM) is the most common inherited disease, with a prevalence of 1:200 worldwide. The cause of HCM usually presents with an autosomal dominant mutation in the genes encoding one of more than 20 sarcomeric proteins, incomplete penetrance, and variable expressivity. HCM classically manifests as an unexplained thickness of the interventricular septum (IVS) and left ventricular (LV) walls, with or without the obstruction of the LV outflow tract (LVOT), and variable cardiac arrhythmias. Here, we present a rare case of mixed cardiomyopathy (cardiac hypertrophy and dilation) and erythrocytosis in a young patient. A 27-year-old man was admitted to the clinic due to biventricular heart failure (HF) NYHA class III. Personal medical records included a diagnosis of dilated cardiomyopathy (DCM) since the age of 4 years and were, at the time, considered an outcome of myocarditis. Severe respiratory infection led to circulatory decompensation and acute femoral thrombosis. The combination of non-obstructive LV hypertrophy (LV walls up to 15 mm), LV dilatation, decreased contractility (LV EF 24%), and LV apical thrombosis were seen. Cardiac MRI showed a complex pattern of late gadolinium enhancement (LGE). Endomyocardial biopsy (EMB) revealed primary cardiomyopathy with intravascular coagulation and an inflammatory response. No viral genome was detected in the plasma or EMB samples. Whole exome sequencing (WES) revealed a homozygous in-frame deletion p.2711_2737del in the MyBPC3 gene. The clinically unaffected mother was a heterozygous carrier of this deletion, and the father was unavailable for clinical and genetic testing. Essential erythrocytosis remains unexplained. No significant improvement was achieved by conventional treatment, including prednisolone 40 mg therapy. ICD was implanted due to sustained VT and high risk of SCD. Orthotopic heart transplantation (HTx) was considered optimal. Early manifestation combined hypertrophic and dilated phenotype, and progression may reflect a complex genotype with more than one pathogenic allele and/or a combination of genetic diseases in one patient.
Non-invasive Ventilation for Pediatric Hypoxic Acute Respiratory Failure Using a Simple Anesthetic Mask With 3D Printed Adaptor: A Case Report
Authors: Gerrit J Muller, Renee Hovenier, Jip Spijker, Monica van Gestel, Rozalinde Klein-Blommert, Dick Markhorst, Coen Dijkman, Reinout A Bem
Journal: Front Pediatr (2021)
Keywords: 3d printing, acute respiratory failure, case report, children, non-invasive ventilation, respiratory support
MeSH terms: Case Reports

Non-invasive ventilation (NIV) is increasingly used in the supportive treatment of acute respiratory failure in children in the pediatric intensive care unit (PICU). However, finding an optimal fitting commercial available NIV face mask is one of the major challenges in daily practice, in particular for young children and those with specific facial features. Large air leaks and pressure-related skin injury due to suboptimal fit are important complications associated with NIV failure. Here, we describe a case of a 4-year old boy with cardiofaciocutaneous syndrome and rhinovirus-associated hypoxic acute respiratory failure who was successfully supported with NIV delivered by a simple anesthetic mask connected to a headgear by an in-house developed and 3D printed adaptor. This case is an example of the clinical challenge related to pediatric NIV masks in the PICU, but also shows the potential of alternative NIV interfaces e.g., by using a widely available and relatively cheap simple anesthetic mask. Further personalized strategies (e.g., by using 3D scanning and printing techniques) that optimize NIV mask fitting in children are warranted.
Arteriovenous fistula after radial catheterization with cardiopulmonary repercussions
Authors: Alexandre Faraco de Oliveira, Alexandre David Ribeiro, Marcio Costa Silveira Ávila
Journal: J Vasc Bras (2019)
Keywords: arteriovenous fistula, cardiac catheterization, dyspnea, percutaneous coronary intervention
MeSH terms: Case Reports

This article describes the case of an 86-year-old coronary disease patient who underwent cardiac catheterization via a left radial access. Around 16 months after the procedure, he presented with dyspnea, unrelated to effort, but associated with nocturnal hypoxia. There was a palpable thrill in the left wrist and he was diagnosed with a radiocephalic arteriovenous fistula in the left wrist. A duplex scan revealed an abnormal wave pattern and increased diastolic velocity compatible with arteriovenous fistula. The fistula was repaired surgically and the patient exhibited improvement in clinical and laboratory parameters after the procedure. Radial access is increasingly being used for cardiac catheterization, primarily because it is associated with fewer and less harmful complications than femoral access. However, complications such as arteriovenous fistula occur and can be particularly harmful in octogenarian patients.