Results 291 to 300 of about 2,909,871 (334)

Beyond stapled transanal rectal resection <i>vs</i> ventral rectopexy dichotomy: Toward a phenotype-guided surgical paradigm for obstructed defecation syndrome. [PDF]

World J Gastrointest Surg
Schiano di Visconte M, Sarnari S.
europepmc   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Exploring the strengths and limitations of AI-driven variant prioritization versus manual curation in inborn errors of immunity. [PDF]

Front Genet
Moushib LI, Moreno-Ruiz N, Martín-Nalda A, Rivière JG, Urban B, Dieli-Crimi R, Perurena-Prieto J, Aguiló-Cucurull A, Pérez-Estévez E, Solanich X, Soler-Palacín P, Colobran R, Batlle-Masó L.   +12 more
europepmc   +1 more source

Hospital Readmission After Traumatic Brain Injury Hospitalization in Community‐Dwelling Older Adults

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the risk of hospital readmission after an index hospitalization for TBI in older adults. Methods Using data from the Atherosclerosis Risk in Communities (ARIC) study, we used propensity score matching of individuals with an index TBI‐related hospitalization to individuals with (1) non‐TBI hospitalizations (primary analysis)
Rachel Thomas, Connor A. Law, Joan A. Casey, Thomas Mosley, Rebecca F. Gottesman, Ramon Diaz‐Arrastia, Holly Elser, Andrea L. C. Schneider   +7 more
wiley   +1 more source

Secondary Chronic Myeloid Leukemia in the Blast Phase With Mixed Phenotype After Radiation Therapy: A Case Report. [PDF]

EJHaem
Aoki M, Maeda T, Kinoshita H, Taji Y, Shintani D, Takahashi N, Ebihara Y.   +6 more
europepmc   +1 more source

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky, Cara Joyce, H. Jeremy Bockholt, Paul A. Rudnick, William H. Adams, Fiona McAllister, Justin W. Smock, Michael A. Newton, Jane S. Paulsen   +8 more
wiley   +1 more source

RELEAP: reinforcement-enhanced label-efficient active phenotyping for electronic health records. [PDF]

JAMIA Open
Yang Y, Pollak KI, Chakraborty B, Liu M, Zhou D, Hong C.   +5 more
europepmc   +1 more source

Lessons Learned From a Delayed‐Start Trial of Modafinil for Freezing of Gait in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Freezing of gait (FOG) in people with Parkinson's disease (PwPD) is debilitating and has limited treatments. Modafinil modulates beta/gamma band activity in the pedunculopontine nucleus (PPN), like PPN deep brain stimulation. We therefore tested the hypothesis that Modafinil would improve FOG in PwPD.
Tuhin Virmani, Lakshmi Pillai, Reid D. Landes, Aliyah Glover, Shannon Doerhoff, Jennifer Kleiner, Mitesh Lotia, Rohit Dhall, Edgar Garcia‐Rill   +8 more
wiley   +1 more source

Cell atlases and the developmental foundations of the phenotype. [PDF]

PLoS Comput Biol
Lou A, Chagoyen M, Poyatos JF.
europepmc   +1 more source