Results 71 to 80 of about 74,276 (259)

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Role of exercise echocardiography in paradoxical low gradient severe aortic stenosis

Revista Portuguesa de Cardiologia, 2023
Jesús Peteiro, Lucia Valmisa, Alberto Bouzas-Mosquera   +2 more
doaj   +1 more source

Coronary myocardial bridge imaging by stress-echocardiography and coronary adipose tissue attenuation on computed tomography angiography [PDF]

Exploration of Cardiology
Myocardial bridging is a congenital defect characterized by the course of a segment of the coronary arteries within the heart muscle most frequently affecting the left anterior descending coronary artery (LAD).
Domenico Tuttolomondo, Damini Dey, Piotr J Slomka, Carmine Pizzi, Luca Bergamaschi, Nicola Gaibazzi   +5 more
doaj   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

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

Expert Perspectives: Defining and Managing Progressive Pulmonary Fibrosis in Systemic Sclerosis

Arthritis &Rheumatology, EarlyView.
Systemic sclerosis–associated interstitial lung disease (SSc‐ILD) is one of the leading causes of morbidity and mortality in SSc, affecting up to three‐quarters of patients. The disease course is highly heterogeneous, ranging from indolent, nonprogressive forms to rapidly progressive pulmonary fibrosis (PPF).
Devis Benfaremo, Dinesh Khanna, Corrado Campochiaro, Vincent Cottin, Fabrizio Luppi, Marco Matucci‐Cerinic, Gianluca Moroncini, Yannick Allanore   +7 more
wiley   +1 more source

Lung water and coronary flow as complementary signals in aortic valve replacement [PDF]

Exploration of Cardiology
Pulmonary congestion and coronary microvascular dysfunction are central to hemodynamic adaptation before and after transcatheter aortic valve replacement (TAVR). This perspective proposes an exploratory, physiology-anchored framework that integrates lung
Marco Fabio Costantino, Francesca Cortese, Maria Giuseppina Veglia, Maria Maddalena De Francesco, Gianpaolo D’Addeo   +4 more
doaj   +1 more source

Glycopolymeric nanoparticles transported by activated platelets protect ischemic myocardium by alleviating PANoptosis through targeting macrophage Dectin‐1

BMEMat, EarlyView.
NP‐SF, designed to target macrophage Dectin‐1 and activated platelets, selectively accumulated in ischemic myocardium, where it was taken up by macrophages after platelet hitchhiking. By inhibiting NLRC5‐related PANoptosis, NP‐SF significantly attenuated pathological damage, and effectively preserved cardiac function in a murine ischemia–reperfusion ...
Guanye Yu, Na Yang, Yan Zhang, Lingxin Peng, Yi Li, Yue Chao, Qinfang Miao, Haikun Qi, Jianhui Zhuang, Weixia Jian, Bingyu Li, Wenhui Peng, Jinghua Chen, Shiyu Gong   +13 more
wiley   +1 more source

QUANTITATIVE ANALYTICAL METHODS IN STRESS ECHOCARDIOGRAPHY

Российский кардиологический журнал, 2014
The paper discusses various methods of quantitative analysis used in stressechocardiography (EchoCG). For each method, its key characteristics, specifics ofapplications, strengths, and weaknesses are described.
A. L. Bobrov, L. L. Bobrov
doaj   +1 more source

Consecutive Emergency Carotid Artery Stenting and Transcatheter Aortic Valve Replacement in a Patient With Cardiogenic Shock: A Case Report

Catheterization and Cardiovascular Interventions, EarlyView.
ABSTRACT Severe aortic stenosis (AS) carries a poor prognosis when symptomatic, particularly in cardiogenic shock (CS). Emergency transcatheter aortic valve replacement (TAVR) is rarely performed but may represent a rescue therapy. Coexistent carotid artery stenosis (CAS) further increases procedural risk.
Max Groche, Claudio Silwanis, Clemens Steinwender, Thomas Lambert   +3 more
wiley   +1 more source