Results 241 to 250 of about 1,082,822 (338)

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Silent complication: chronic diarrhea as a clue to gastrojejunocolic fistula: A case report. [PDF]

Medicine (Baltimore)
Ghantous M, El Zein Z, Radwan R, Geagea A, Alam H, Abou Rached A.   +5 more
europepmc   +1 more source

Continuous Monitoring of Bladder Dysfunction in People With Multiple Sclerosis: Wearables for the Bladder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Bladder dysfunction affects over 85% of people with multiple sclerosis (PwMS), yet current assessment methods are limited to periodic in‐clinic evaluations or subjective patient reports, failing to capture real‐world symptom fluctuations.
Valerie J. Block, Shane Poole, Leah McIntyre, Nikki Sisodia, Chelyn Park, Gabby Joseph, Michelle E. Van Kuiken, Anne M. Suskind, Riley Bove   +8 more
wiley   +1 more source

Lesions Distribution, Nature and Severity Along the Gastrointestinal Tract in Cats With Low-Grade Intestinal T-Cell Lymphoma or Lymphoplasmacytic Enteritis. [PDF]

J Vet Intern Med
Bernard P, Remmel P, Cordonnier N, Freiche V.   +3 more
europepmc   +1 more source

Characterizing Duodenal Immune Microenvironment in Functional Dyspepsia: An AutoML-Driven Diagnostic Framework

Journal of Inflammation Research
Xueping Zhang,1,* Xingfu Fan,2,* Xinxin Hu,1 Zixing Qian,3 Jiaxuan Li,3 Wenyu Wu,1 Lei Chen,1 Suowei Wu,4 Lixin Ma,4 Chen Yang,5 Tao Zhang,1 Xiaolan Su,1 Wei Wei1 1Department of Gastroenterology, Beijing Key Laboratory of Functional ...
Zhang X, Fan X, Hu X, Qian Z, Li J, Wu W, Chen L, Wu S, Ma L, Yang C, Zhang T, Su X, Wei W   +12 more
doaj  

Cervical Spinal Cord Magnetization Transfer Ratio and Its Relationship With Clinical Outcomes in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The cervical spinal cord (cSC) is highly relevant to clinical dysfunction in multiple sclerosis (MS) but remains understudied using quantitative magnetic resonance imaging (MRI). We assessed magnetization transfer ratio (MTR), a semi‐quantitative MRI measure sensitive to MS‐related tissue microstructural changes, in the cSC and its ...
Lisa Eunyoung Lee, Julien Cohen‐Adad, Irene M. Vavasour, Melanie Guenette, Katherine Sawicka, Neda Rashidi‐Ranjbar, Nathan Churchill, Akash Chopra, Adelia Adelia, Pierre‐Louis Benveniste, Anthony Traboulsee, Nathalie Arbour, Fabrizio Giuliani, Larry D. Lynd, Scott B. Patten, Alexandre Prat, Alice Schabas, Penelope Smyth, Roger Tam, Yunyan Zhang, Simon J. Graham, Mojgan Hodaie, Anthony Feinstein, Shannon Kolind, Tom A. Schweizer, Jiwon Oh, CanProCo Study Group   +26 more
wiley   +1 more source

Unveiling the enigma: Investigating the controversy surrounding mitochondrial DNA copy number and gastric cancer using Mendelian randomization analysis. [PDF]

Medicine (Baltimore)
Zhou J, Shangguan T, Xu Y, Chen C, Wang K.   +4 more
europepmc   +1 more source

Fixel‐Based Analysis of Diffusion Imaging as a Quantitative Marker of Disease State in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCAs) are a group of genetically heterogeneous neurodegenerative diseases causing progressive deterioration and reduced quality of life. Therapeutic advances have been limited by a lack of sensitive anatomic, functional, or diffusion imaging‐based biomarkers.
David J. Arpin, S. H. Subramony, the READISCA Consortium, David E. Vaillancourt, Tetsuo Ashizawa, Alexandra Durr, Thomas Mareci, Thomas Klockgether, Jennifer Faber, Henry L. Paulson, Gülin Öz, Matthew R. Burns   +11 more
wiley   +1 more source

Breaking Boundaries: A Case Report of Giant Hiatal Hernia Housing Pancreas, Stomach, Small Bowel, and Colon. [PDF]

Cureus
Forrest JR, Chaudhuri U, Konney E, Triplett DJ.   +3 more
europepmc   +1 more source

Helicobacter pylori impacts the expression of immune checkpoint molecules in gastric cancer by upregulating SERPINE1

Asian Journal of Surgery
Qijia Zhang, Ze Yu, Ling Hu
doaj   +1 more source