Results 81 to 90 of about 748,768 (294)
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 +2 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
Chinese Medical Journal, 2017 Background: Pulmonary stenosis is common in children with complex congenital heart diseases. Proper management of this problem, especially postoperatively, is still controversial.
Yan Gu +6 more
doaj +1 more source
Anales. Universidad Nacional Mayor de San Marcos. Facultad de Medicina, 1967 The invaluable help of the new procedures for cardiology research has allowed us to better study the various cardiac abnormalities . These plays an important role intracardiac catheterization, which allows us to determine data such as blood gases and pressure curves ; the cineangiocardiografía can detect small abnormalities that escape even the ...
Chaman Ortíz, José M. +1 more
openaire +2 more sources
Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir +6 more
wiley +1 more source
Pulmonary Hypertension Associated with Stenosis of the Right Pulmonary Artery Branch in a Dog
A 10-year-old male miniature dachshund dog was referred to our hospi tal for cough and dyspnea. Two-dimensional echocardiography revealed pulmonary hypertension with an echo-free circle structure adjacent to the dorsal side of the left atrium.
Takuya MATSUKAWA +3 more
core +1 more source
Association of DPP4 with esophageal stricture progression and the Hippo‐YAP pathway
Animal Models and Experimental Medicine, EarlyView.This study establishes a comprehensive translational platform for esophageal stricture (ES) research by integrating a novel rat model with clinically relevant porcine validation. This study identifies DPP4 as a gene of interest associated with ES following endoscopic submucosal dissection, demonstrating that prophylactic DPP4 inhibition attenuates ...
Rui Wu +5 more
wiley +1 more source
Hemodynamic Influence of Different Pulmonary Stenosis Degree in Glenn Procedure: A Numerical Study
Advances in Mechanical Engineering, 2014 Background . Single ventricle disease is treated by Glenn surgery. It is generally accompanied by stenosis on a pulmonary artery or its branches, which has great effect on hemodynamics.
Liancai Ma +11 more
doaj +1 more source
Pulmonary Vein Stenosis—Evolving Surgical Management of a Challenging Disease
, 2021 Pulmonary vein stenosis (PVS) is an extremely challenging clinical problem in congenital heart disease. It has traditionally required multimodal therapy given its complex underlying pathophysiology.
Christopher W. Baird +2 more
core +1 more source
Arthritis &Rheumatology, EarlyView.Objective To assess the 2022 American College of Rheumatology (ACR)/EULAR classification criteria for antineutrophil cytoplasmic antibody–associated vasculitis (AAV) in children with chronic small‐to‐medium vessel vasculitis. Methods A cohort of 574 patients, identified by physician's diagnosis (MD‐diagnosis) in A Registry of Childhood Vasculitis, was ...
David A. Cabral +41 more
wiley +1 more source