Results 321 to 330 of about 1,264,213 (379)

Genetic Modifiers of Parkinson's Disease: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the associations of LRRK2 p.G2019S, GBA1 p.N409S, polygenic risk scores (PRS), and APOE E4 on PD penetrance, risk, and symptoms. Methods We conducted a US‐based observational case–control study using data from the 23andMe Inc. and Fox Insight Genetic Substudy (FIGS) databases.
Matthew J. Kmiecik, Michael V. Holmes, Pierre Fontanillas, Giulietta M. Riboldi, Ruth B. Schneider, Jingchunzi Shi, Anna Guan, Susana Tat, Steven Micheletti, Keaton Stagaman, Josh Gottesman, David A. Hinds, Joyce Y. Tung, 23andMe Research Team, Stella Aslibekyan, Lucy Norcliffe‐Kaufmann   +15 more
wiley   +1 more source

Longitudinal Study of Salivary Biomarkers in the Definition of Clinico‐Molecular Progression of Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
Longitudinal changes in salivary biomarkers in Parkinson’s disease (PD) from early (T0) to 4‐year follow‐up (T1), quantified by ELISA: oligomeric and total α‐synuclein, total and phosphorylated tau, MAP1LC3B (autophagy), and TNFa (inflammation). Blue arrows indicate direction of change at T1 vs T0 (up = increase; down = decrease).
Maria Ilenia De Bartolo, Daniele Belvisi, Matteo Costanzo, Claudia Caturano, Francesco Emanuele Bellomi, Carolina Cutrona, Flavia Aiello, Giorgio Leodori, Massimo Marano, Romina Mancinelli, Antonella Conte, Giovanni Fabbrini, Alfredo Berardelli, Giorgio Vivacqua   +13 more
wiley   +1 more source

High-Dose Calcium Channel Blockade in PH: Old Lessons, New Tools. [PDF]

Pulm Circ
Pagnoni G, Vicenzi A, Coppi F.
europepmc   +1 more source

Single‐Cell RNA Seq in Sydenham Chorea Shows B Cell HLA‐DR/DQ Upregulation and Plasma Cell Proteasomal Activation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The pathogenesis of Sydenham chorea remains unclear. We report a 10‐year‐old girl presenting with subacute chorea and mild carditis following Streptococcal throat infection. Single‐cell RNA sequencing on 30,794 peripheral immune cells from the patient and two sex‐matched controls revealed nine immune cell clusters.
Velda X. Han, Brooke A. Keating, Brian S. Gloss, Xianzhong Lau, Ruwani Dissanayake, Hiroya Nishida, Jessica Hayes, Shrujna Patel, Shekeeb S. Mohammad, Russell C. Dale   +9 more
wiley   +1 more source

Effects of segmentation errors on downstream-analysis in highly-multiplexed tissue imaging. [PDF]

PLoS Comput Biol
Bruhns M, Schleicher JT, Wirth M, Zago M, Babaei S, Claassen M.   +5 more
europepmc   +1 more source

Assessing a Mitochondrial Disease Treatment via a Novel Statistical Technique for Accelerometer Data

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Therapeutic development for mitochondrial diseases, rare genetic disorders with pathogenic defects of oxidative phosphorylation, is hindered by unsatisfactory outcome measures. To address this problem, we provide the first clinical application of a novel, bias‐adjusted outcome measure of acceleration across a range of subjects ...
Ian W. McKeague, Kristin Engelstad, Yue Ge, Amber Tucker, Shufang Li, Jasim Uddin, Ziwei Zhao, John L. P. Thompson, Michio Hirano   +8 more
wiley   +1 more source

Deep Phenotyping of Obesity: Electronic Health Record-Based Temporal Modeling Study.

J Med Internet Res
Ruan X, Lu S, Wang L, Wen A, Murali S, Liu H.   +5 more
europepmc   +1 more source

Neonatal anemia due to spontaneous fetomaternal hemorrhage in a term neonate: a case report of an incidental finding and brief review. [PDF]

Front Pediatr
Hao X, Zhang Y, Gao C, Wang Q.
europepmc   +1 more source

Characteristics of Cerebral Palsy in the Midwestern US

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cerebral palsy (CP) is the most common lifelong motor disability worldwide. Yet, data is limited on how CP manifests in the US. Our objective was to characterize and determine factors affecting functional outcomes in a large population of young people with CP in the Midwestern US.
Susie Kim, Kelsey Steffen, Lauren Gottschalk‐Henneberry, Jennifer Miros, Amy Robichaux‐Viehoever, Karen Taca, Bhooma R. Aravamuthan   +6 more
wiley   +1 more source

Clinical heterogeneity and phenotyping of post cardiac arrest brain injury: one size may not fit all. [PDF]

Intensive Care Med
Sekhon MS, Taccone FS, Skrifvars MB, Griesdale DE, Elmer J, Velly L, Robba C.   +6 more
europepmc   +1 more source