Results 201 to 210 of about 944,231 (329)

Changes in Immune‐Inflammation Status and Acute Ischemic Stroke Prognosis in Prospective Cohort

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Inflammation is a critical risk factor for poor outcomes in cerebral infarction. Prior studies focused primarily on baseline inflammation status, neglecting dynamic longitudinal changes. We try to investigate the association between immune‐inflammation status alterations and stroke prognosis, and evaluated three systemic biomarkers'
Songfang Chen, Wenting Huang, Yitian Liu, Xuan Chen, Buyu Ke, Qian Shen, Hanyu Cai, Jing Sun, Yan Li, Yungang Cao, Beilei Hu, Keyang Chen   +11 more
wiley   +1 more source

Female Carrier of Ocular Albinism Linked to <i>Gpr143</i> Gene. [PDF]

J Vitreoretin Dis
Flynn E, Cheela I, Kaden TR.
europepmc   +1 more source

X linked hydrocephalus and MASA syndrome.

Journal of Medical Genetics, 1994
Ian Young, Andrew Wilkie
semanticscholar   +1 more source

Deep Learning–Assisted Differentiation of Four Peripheral Neuropathies Using Corneal Confocal Microscopy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning–based multiclass classification ...
Chaima Ben Rabah, Ioannis N. Petropoulos, Mark Stettner, Maryam Ferdousi, Uazman Alam, Nathan Efron, Ahmed Serag, Rayaz A. Malik   +7 more
wiley   +1 more source

A case of concurrent Alport syndrome and Nail-patella syndrome posing diagnostic challenge without genetic testing. [PDF]

BMC Nephrol
Fung WW, Yau ML, Lam PPH, Szeto CC, Chong SC, Chow KM.   +5 more
europepmc   +1 more source

The McCance Brain Care Score and Mortality: Evidence From a Large‐Scale Population‐Based Cohort

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives This study aimed to examine the relationship between the McCance Brain Care Score (BCS) and mortality in the general population. Methods We conducted a prospective, population‐based cohort study using data from the UK Biobank. Participants with complete data enabling calculation of BCS and full mortality information were included ...
Zhiqiang Xu, Xiaoxiao Wang, Nan Li
wiley   +1 more source

Targeted Gene Sequencing in a Male Adult Diagnosed With X-Linked Osteoporosis Due to a Novel p.(Arg398Profs*2) <i>PLS3</i> Variant. [PDF]

JCEM Case Rep
Ye S, Taylor-Miller T, Grill V, Ebeling PR, Nguyen HH.   +4 more
europepmc   +1 more source

A non‐ancestral RPGR missense mutation in families with either recessive or semi‐dominant X‐linked retinitis pigmentosa

American Journal of Medical Genetics. Part A, 2007
E. Banin, L. Mizrahi‐Meissonnier, R. Neis, S. Silverstein, I. Magyar, D. Abeliovich, R. Roepman, W. Berger, T. Rosenberg, D. Sharon   +9 more
semanticscholar   +1 more source

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

A bibliometric approach to worldwide scientific production of familial hypophosphataemic rickets in Scopus (2000-2022). [PDF]

Orphanet J Rare Dis
Hernández-García F, Gil-Peña H, López JM, Fuente R, Oro Carbajosa P, Corrales-Reyes IE, Suárez JR.   +6 more
europepmc   +1 more source