Results 51 to 60 of about 41,399 (306)
Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases
Advanced Science, EarlyView.Mitochondrial transplantation (MTx) offers a promising therapeutic avenue for mitochondrial diseases. This review comprehensively evaluates MTx, differentiating its feasibility for mtDNA‐ and nDNA‐based disorders. It examines its potential for genetic correction, alongside inherent limitations, technical challenges, and crucial ethical considerations ...
Parmeshar Singh +17 more
wiley +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
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
A Case of Multiple Sclerosis Presenting as Eight and Half Syndrome. [PDF]
, 2013 Multiple sclerosis (MS) is a chronic disease characterized by inflammation, demyelination, gliosis (scarring), and neuronal loss; the course can be relapsing-remitting or progressive.
Kaushik, M +4 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston +35 more
wiley +1 more source
Epileptic Disorders, EarlyView.Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
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
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
doaj +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 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