Results 111 to 120 of about 233,541 (267)

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Correlation between left ventricular hypertrophy and diastolic dysfunction in arterial hypertension

Терапевтический архив, 2003
Aim. To evaluate relationships between arterial pressure (AP), myocardial mass of the left ventricle (LVMM) and left ventricular diastolic function (LVDF) in patients with hypertension stage I and II. Material and methods. 89 hypertensive patients and 30
Z К Trushinsky, Yu V Dovgalyuk, О Yu Skritskaya   +2 more
doaj  

Chrysin alleviates pressure overload–induced myocardial remodeling through regulating the PI3K/AKT/NRF2 pathway–mediated oxidative stress response

Animal Models and Experimental Medicine, EarlyView.
In this study, we primarily simulated pathological myocardial remodeling induced by transverse aortic constriction surgery and found significant cardiac hypertrophy and fibrosis, characterized by deteriorated cardiac function. Oxidative stress response is considered as a pivotal pathological process, which contributes to inflammation and apoptosis of ...
Yijia Wang, Xing Feng, Shuhui Zhao, Yuchong Fu, Ao Zhang, Xiaofeng Shen, Bowen Yu, Yihao Wang, Jiahui Lin, Bing Zhang, Weiping Ji, Lianpin Wu, Xiaoling Guo   +12 more
wiley   +1 more source

Association between Diabetic Retinopathy and Left VentricularDysfunction in Diabetic Patients with Unstable Angina

Journal of Cardiovascular and Thoracic Research, 2012
Introduction: Diabetes mellitus (DM) is associated with serious complications including macro- and microvascular problems such as diabetic retinopathy.
Ebadollah Heidari, Sanaz Nematzadeh Pakdel, Jahanbakhsh Samadikhah, Rasoul Azarfarin, Kamran Shadvar   +4 more
doaj  

Refining a preclinical model of viral myocarditis in accordance with biotech standards

Animal Models and Experimental Medicine, EarlyView.
This study aimed to refine a murine model of Coxsackievirus B3‐induced myocarditis by integrating dietary and imaging innovations to improve animal welfare, data quality, and clinical applicability. The refined diet significantly reduced animal health burden, reduced weight loss, and stabilized blood glucose during development of cardiac inflammation ...
Jonas Stewen, Julia Riedesel, Juliane Stein, Brandon H. Greene, Svenja Rohde, Sonja Suess, Bjoern Keiner, Priya Panjwani, Padmapriya Ponnuswamy, Juan E. Camacho Londoño   +9 more
wiley   +1 more source

A Diagnostic Cascade Triggered by Physical Examination: Uncovering Asymptomatic Left Ventricular Dysfunction and Critical Carotid Disease in a Hypertensive Patient. [PDF]

Cureus
Lyu X.
europepmc   +1 more source

Perivascular Spaces as Determinants of Amyloid, Tau, and Vascular Biomarker Progression

Annals of Neurology, EarlyView.
Objective Magnetic resonance imaging (MRI)‐visible enlarged perivascular spaces (PVS) are markers of cerebral small vessel disease (SVD) and aging, processes implicated in both neurodegenerative and cerebrovascular pathologies. However, longitudinal positron emission tomography (PET) studies examining PVS as a mechanism underlying Alzheimer's disease ...
Audrey Low, Jeffrey L. Gunter, Mingzhao Hu, Sheelakumari Raghavan, Scott A. Przybelski, Christopher G. Schwarz, Kejal Kantarci, Val J. Lowe, Ronald C. Petersen, Jonathan Graff‐Radford, Clifford R. Jack Jr, Prashanthi Vemuri   +11 more
wiley   +1 more source

Beyond the right ventricle: left heart involvement in pulmonary arterial hypertension. [PDF]

Heart Fail Rev
Cabada-García MJ, Rodríguez-Rivera J, Panneflek J, Andrade-Leal S, Martínez-Rodríguez AL, Paredes-Gutiérrez E, De Leon-Gutierrez H, Peña-Bladé AG, Monjaras-Alvarado R, Morón-Mosso JA, Torres A, Aguirre D, Serrano MJ, Sanchez-Ramirez CJ, Gutiérrez-Fajardo P, Ramirez-Rivera A, Jerjes-Sanchez C.   +16 more
europepmc   +1 more source