Results 41 to 50 of about 35,344 (269)
Frontiers in Medicine, 2022 Campylobacter jejuni (C. jejuni), a Gram-negative bacterium, belongs to microaerobic bacteria. We reported a 21-year-old male patient diagnosed with hemophagocytic lymphohistiocytosis (HLH) due to C. jejuni infection, who presented with multiple clinical
Fang-e Shi +4 more
doaj +1 more source
Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert +4 more
wiley +1 more source
Eye wall resections for intraocular tumors: Our experience
Indian Journal of Ophthalmology, 2014 We conducted a retrospective review of 11 eyes undergoing eye wall resection between October 1998 and October 2009. The median age of 11 patients was 29 years. Decreased vision (eight) was the most common presenting symptom.
Tandava Krishnan +4 more
doaj +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen +5 more
wiley +1 more source
Mucocele of the sphenoid sinus: A rare cause of reversible 3 rd nerve palsy
Annals of Indian Academy of Neurology, 2012 Ophthalmoplegia due to 3 rd nerve palsy is a common occurrence, and is usually a sign of diabetes mellitus or a serious intracranial disease. We report a rare case of pupil sparing 3 rd nerve palsy caused by mucocele of the sphenoid sinus.
Rashim Kataria +4 more
doaj +1 more source
Case Reports in Neurological Medicine, 2020 Objective. Painful ophthalmoplegia includes nonspecific magnetic resonance imaging (MRI) manifestations and various clinical features including orbital pain and cranial nerve palsies. Treatment for painful ophthalmoplegia remains controversial.
Yasunobu Nosaki +4 more
doaj +1 more source
Stiff-Eye Syndrome—Anti-GAD Ataxia Presenting with Isolated Ophthalmoplegia: A Case Report
Brain Sciences, 2021 Anti-GAD ataxia is one of the most common forms of immune-mediated cerebellar ataxias. Many neurological syndromes have been reported in association with anti-GAD. Ophthalmoparesis has been described in stiff person syndrome. We report a case of anti-GAD
Abel Dantas Belém +12 more
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Patient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome
Annals of Neurology, EarlyView.Objective Kearns–Sayre syndrome (KSS) is characterized by single large‐scale mitochondrial DNA deletions and by severe early‐onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking.
Laura Valls‐Roca +24 more
wiley +1 more source
Anatomical Sciences Education, EarlyView.Abstract Medical education must balance foundational science with clinical relevance. Increasing emphasis on standardized assessments has led to prioritization of “high‐yield” conditions—those most likely to be assessed. Subsequently, educators and students often prioritize these conditions.
Kathryn Veazey, Oheneba Boadum
wiley +1 more source
A Rare Case of Orbital Apex Syndrome in Herpes Zoster Ophthalmicus [PDF]
Journal of Clinical and Diagnostic Research, 2016 Orbital Apex Syndrome (OAS) is a rare complication of Herpes Zoster Ophthalmicus (HZO). We are reporting a case of 65-yearold male who developed OAS following HZO.
CHARUDUTT KALAMKAR +3 more
doaj +1 more source