Results 41 to 50 of about 45,884 (249)

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Isolated and repeated stroke-like episodes in a middle-aged man with a mitochondrial ND3 T10158C mutation: a case report

BMC Neurology, 2017
Background Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, is the most common phenotype of mitochondrial disease.
Satomi Mezuki, Kenji Fukuda, Tomonaga Matsushita, Yoshihisa Fukushima, Ryu Matsuo, Yu-ichi Goto, Takehiro Yasukawa, Takeshi Uchiumi, Dongchon Kang, Takanari Kitazono, Tetsuro Ago   +10 more
doaj   +1 more source

MELAS with multiple stroke‐like episodes due to the variant m.13513G>A in MT‐ND5

Clinical Case Reports, 2022
Mitochondrial encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS) is characterized by metabolic stroke, seizures, cognitive decline, lactic acidosis, ragged‐red fibers, headache, and vomiting, and in 80% of cases due to the mtDNA variant m ...
Ritwik Ghosh, Souvik Dubey, Subhas Bhuin, Durjoy Lahiri, Biman Kanti Ray, Josef Finsterer   +5 more
doaj   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Melas (mitochondrial, encephalopathy, lactic acidosis and stroke like episodes): relato de um caso

Arquivos de Neuro-Psiquiatria, 1987
Relato de caso de menino de 12 anos de idade que apresentou diversas crises convulsivas, cefaléia e vômitos de difícil controle, concomitantes a sinais neurológicos focais.
Lineu Cesar Werneck, Haydée Abdalla, Alfredo Lohr   +2 more
doaj   +1 more source

Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature

Molecular Genetics & Genomic Medicine, 2022
Background Mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes (MELAS) syndrome is one of the most well‐known mitochondrial diseases, with most cases attributed to m.3243A>G.
Lydia M. Seed, Andrew Dean, Deepa Krishnakumar, Poe Phyu, Rita Horvath, Pooja Devi Harijan   +5 more
doaj   +1 more source

Diffusion‐Based Generative Model With Scaffold‐Hopping Strategy Yields Highly Potent Bioactive Molecules

Advanced Science, EarlyView.
SMarT‐Diff introduces a multi‐objective generative paradigm that integrates scaffold hopping with structure‐aware scoring to enable controlled exploration beyond the training distribution. The framework consistently balances drug‐likeness, synthesizes accessibility and bioactivity, yielding chemically diverse candidates with enhanced properties.
Yuwei Yang, Xiaoqing Gong, Shukai Gu, Jing Li, Bo Liu, Yanan Tian, Qianqian Zhang, Xiaojun Yao, Huanxiang Liu   +8 more
wiley   +1 more source

Pathogenesis and treatment of stroke-like episodes in MELAS

Rinsho Shinkeigaku, 2008
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a distinct clinical syndrome caused by mutations in mitochondrial DNA. Crucial molecular mechanism includes a lack of taurine modification at the wobble uridine of the mutant tRNA(Leu(UUR)), causing UUG condon-specific translational defect and mitochondrial ...
openaire   +3 more sources

Arginine and Citrulline for the Treatment of MELAS Syndrome

Journal of Inborn Errors of Metabolism and Screening, 2017
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disease with a broad spectrum of manifestations.
Ayman W. El-Hattab MD, FACMG, Mohammed Almannai MD, Fernando Scaglia MD, FACMG   +2 more
doaj   +1 more source

Clinical utility of pharyngeal high‐resolution manometry with impedance for upper esophageal sphincter dysfunction in gastroenterology

Advances in Digestive Medicine, EarlyView.
Abstract Pharyngeal high‐resolution manometry with impedance (P‐HRM‐I) is an established assessment method used to evaluate pharyngeal swallowing. It provides precise quantification of swallowing biomechanics that enable the detection of alterations in swallowing physiology.
Mistyka Schar, Taher Omari, Michal Szczesniak, Chien‐Lin Chen, Richard Heddle, Charles Cock   +5 more
wiley   +1 more source