Results 51 to 60 of about 1,037 (94)

Clinical Spectrum, Heteroplasmy‐Phenotype Correlation, and Prognosis of the MT‐ND3 m.10191 T > C Mutation

CNS Neuroscience &Therapeutics, Volume 32, Issue 6, June 2026.
This study presents the largest cohort of patients with the m.10191 T > C mutation to date, delineating a continuous spectrum from LS to MELAS‐like phenotypes and systematically characterizing clinical manifestations, neuroimaging features, heteroplasmy–phenotype correlations, and prognostic factors.
Zimeng He, Huafang Jiang, Tongyue Li, Yang Liu, Ying Zou, Chaolong Xu, Zhimei Liu, Danmin Shen, Ruoyu Duan, Minhan Song, Yunxi Zhang, Zixuan Zhang, Mingxi Sun, Rui Shen, Hong Xue, Fang Fang   +15 more
wiley   +1 more source

Clinical Features of Painful Ophthalmoplegia with a High-Intensity Ring Appearance around the Optic Nerve on MRI: A Case Series

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, Ken Ohyama, Maki Watanabe, Takamasa Yokoi, Katsushige Iwai   +4 more
doaj   +1 more source

Association of a Homozygous TYMP c.131G>C Variant With MNGIE in a Chinese Pedigree: Insights From Genetic Analysis and Computational Modeling

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Researcher highlight: Extending beyond the recently reported compound heterozygous case, we report the same TYMP c.131G>C variant in a homozygous configuration, delivering key genetic evidence for its standalone pathogenicity in MNGIE. ABSTRACT Background Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder ...
Ling Li, Xiu Chen, Hua Li, Kai Guo, Ting Zhang, Mingyi Ma, Songhua Zhao   +6 more
wiley   +1 more source

Bilateral Carotid-Cavernous Fistula Following Traumatic Fall: A Case Report

Journal of the Belgian Society of Radiology
Carotid-cavernous fistulas (CCFs) are abnormal connections between the carotid arteries and the cavernous sinus, posing significant neuro-ophthalmologic risks.
Fatim Camara, Chiara Mabiglia, Thomas Bonnet   +2 more
doaj   +1 more source

From Pharmacodynamic Biomarker to Evaluating Treatment Response: Biomarkers in Primary Mitochondrial Diseases

Clinical and Translational Science, Volume 19, Issue 6, June 2026.
ABSTRACT Primary mitochondrial diseases (PMDs) result from genetic variants in nuclear DNA and mitochondrial DNA which commonly lead to aberrant oxidative phosphorylation. The clinical complexity, often attributed to the underlying genetics, includes several distinct syndromes (e.g., Barth syndrome; Pearson syndrome; Mitochondrial encephalomyopathy ...
Sydney Stern, Karryn Crisamore, John Patton, Robert Schuck, Michael Pacanowski   +4 more
wiley   +1 more source

Tolosa-hunt Syndrome Following COVID-19 Pandemic: A Case Series Describing the Clinical Presentations and Response to SteroidsTolosa-hunt Syndrome Following COVID-19 Pandemic: A Case Series Describing the Clinical Presentations and Response to Steroids [PDF]

Journal of Clinical and Diagnostic Research
Tolosa-Hunt Syndrome is a rare condition characterised by unilateral periorbital headache with ophthalmoplegia caused by inflammation of the superior orbital fissure or cavernous sinus.
Nimmy Jimmicha, Surya Dinesh
doaj   +1 more source

The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype

Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli, Christelle Nilles, Gerald Pfeffer, Matthew Joel, Davide Martino   +4 more
wiley   +1 more source

Ophthalmic Vascular Occlusion and Blindness After Platelet‐Rich Plasma Injections: A Systematic Review

Journal of Cosmetic Dermatology, Volume 25, Issue 6, June 2026.
ABSTRACT Background Platelet‐rich plasma (PRP) is widely used in aesthetic and regenerative medicine; however, rare vision‐threatening complications such as blindness have been reported following facial injections. Aims This systematic review aimed to identify and analyze all published cases of visual impairment following PRP injections.
Mandana Ebrahimzade, Shahriar Nazari, Mohammad Reza Pourani, Cristina Muñoz‐Gonzalez, Fahimeh Abdollahimajd, Maurizio Cavallini, Nabil Fakih‐Gomez   +6 more
wiley   +1 more source

Rethinking Mitochondrial Parkinson's Disease in the α‐Synuclein Seed Amplification Assays Era

Movement Disorders, EarlyView.
Marco Percetti, Vidal Yahya, Alessio Di Fonzo, Edoardo Monfrini   +3 more
wiley   +1 more source

Adverse Drug Reaction Study of Botulinum Toxin‐A in the Real World

Journal of Cosmetic Dermatology, Volume 25, Issue 6, June 2026.
ABSTRACT Background Despite the increasing use of botulinum toxin type A (BoNT‐A) in aesthetic and therapeutic applications, its real‐world adverse drug reaction (ADR) profile remains incompletely characterized. Current evidence relies largely on small‐scale clinical observations rather than large, systematic analyses.
Jiaxu Gu, Yue Sun, Kexin Chen, Jieyi Wang, Bingcheng Lu, Hongqiang Xie, Xiaoming Liu, Cong Huang, Xingling Jian, Bo Yu   +9 more
wiley   +1 more source