Results 191 to 200 of about 688,137 (308)

Risk-reducing gynecologic surgery decisions in Lynch syndrome at a safety-net hospital and university medical center. [PDF]

Gynecol Oncol
Waggoner RM, Ricker CN, Nie Q, Guo XM, Comeaux JG, Chang EY, Gutierrez N, Hernandez D, Nguyen A, Garcia I, Ito F, Brunette LL, Roman LD, Spicer D, Culver JO.   +14 more
europepmc   +1 more source

Sex‐Stratified Association of Regional Dopamine Transporter Binding With Disease Progression in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To clarify the clinical relevance of dopamine transporter single‐photon emission computed tomography (DAT‐SPECT) abnormalities in amyotrophic lateral sclerosis (ALS), with a prespecified focus on sex‐stratified associations with disease progression and short‐term prognosis.
Tomoya Kawazoe, Keizo Sugaya, Kentaro Hayashi, Keiko Hino, Yasuhiro Nakata, Kota Bokuda, Toshio Shimizu, Kazushi Takahashi   +7 more
wiley   +1 more source

Large Language Model Automated Extraction of Clinical Signs and Symptoms From Emergency Department Reports for Machine Learning Prediction Models: Development and Validation Study. [PDF]

JMIR Med Inform
Schipper A, Belgers P, O'Connor RD, van de Wouw L, Builtjes L, Bosma JS, Kusters R, Kurstjens S, Rutten M, van Ginneken B.   +9 more
europepmc   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

Childhood Speech Impairment and Dementia Risks Among U.S. Older Adults. [PDF]

Int J Lang Commun Disord
Wang H, Xu S, Pei Y.
europepmc   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Not just two languages: Using variation in language experience to understand how cognitive resources shape syntactic processing. [PDF]

PLoS One
Sulier N, Torres J, Kroll JF.
europepmc   +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

Revisiting the African mtDNA landscape through complete mitochondrial genomes. [PDF]

Commun Biol
Lankheet I, Chowdhury A, Tellgren-Roth C, Jolly C, Soares AER, de Navascués M, Pacchiarotti S, Maselli L, Kouarata G, Donzo JP, Coetzee V, de Castro M, Ebbesen P, Priehodová E, Podgorná E, Černý V, Green ST, Harena P, Bakrobena L, Fomine FLM, Tolesa ZG, Mengesha WA, de Jongh M, Soodyall H, Bostoen K, Barbieri C, Larena M, Malmström H, Schlebusch CM.   +28 more
europepmc   +1 more source

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source