Results 211 to 220 of about 2,830,227 (287)

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Anticoagulation in pregnant women with mechanical heart valves: A case series from a single centre in South India over two decades. [PDF]

J Family Med Prim Care
Anandaraj AM, Ebenezer ED, Vijjeswarapu AP, Nirupama SE, Shankar R, Nair SC, Sathyendra S, Jasmine S, Benjamin SJ, Rathore S, Abraham K, Mahasampath G, Mathews JE.   +12 more
europepmc   +1 more source

Heart Valves

The American Biology Teacher, 1946
openaire   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Comparative evaluation of Biofire Joint Infection Panel, Sepsitest 16S/18S rDNA PCR, and culture to identify microorganisms in explanted heart valves. [PDF]

Microbiol Spectr
Berinson B, Tanida K, Wolters M, Olearo F, Sinning C, Christner M, Aepfelbacher M, Rohde H.   +7 more
europepmc   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Effective Thrombectomy for Biventricular Thrombosis With an Endoscope via the Aortic and Tricuspid Heart Valves. [PDF]

Tex Heart Inst J
Endo Y, Shimamura Y, Kikuchi C, Niinami H.   +3 more
europepmc   +1 more source

[Heart valve diseases].

Der Internist, 2016
openaire   +2 more sources

Isovolumic relaxation strain imaging is an accurate and sensitive approach for detection of active diastolic dysfunction: A preclinical study

Animal Models and Experimental Medicine, EarlyView.
A modified approach was developed to accurately identify the isovolumetric relaxation time (IVRT) using an apical three‐chamber view. Compared with conventional echocardiography, isovolumic relaxation strain imaging (IVSI) helps to detect the earlier alternations of diastolic function in transverse aortic constriction (TAC) mice.
Jingjing Liang, Juncheng Wang, Jun Cheng, Yanggan Wang   +3 more
wiley   +1 more source

Study of cardiac structures and heart valves: analysing curvatures based on 3D ultrasound waves. [PDF]

Eur Heart J Imaging Methods Pract
Karvandi M, Ranjbar S.
europepmc   +1 more source