Results 41 to 50 of about 64,649 (279)

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Familial secundum atrial septal defect with dysrhythmia associated with web neck

The Turkish Journal of Pediatrics, 2002
Most cases of atrial septal defect occur sporadically, but a few families have the defect as a genetic abnormality. A family having familial type secundum atrial septal defect with dysrhythmia associated with web neck is reported.
Zübeyir Kiliç, Birsen Uçar, Ferruh Baş, Ener Cağri Dinleyici, Ersin Sari   +4 more
doaj  

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Serum soluble suppression of tumorigenicity-2 level associates with severity of pulmonary hypertension associated with uncorrected atrial septal defect

Pulmonary Circulation, 2020
Uncorrected atrial septal defect undergoes right ventricle chronic volume overload which may lead to pulmonary hypertension and Eisenmenger Syndrome. The soluble suppression of tumorigenicity-2 is a left ventricle strain biomarker; however, its role in ...
Reza S. Pratama, Anggoro B. Hartopo, Dyah W. Anggrahini, Vera C. Dewanto, Lucia K. Dinarti   +4 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Atrial septal defect.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1998
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Zion, MM, Bradlow, BA, Braudo, JL
openaire   +2 more sources

Cardiac morphological and morphometric analysis of Ardea alba

The Anatomical Record, EarlyView.
Abstract Ardea alba (Linnaeus, 1758) is a widely distributed heron species whose cardiovascular morphology remains poorly described. This study aimed to characterize the cardiac morphology and morphometry of adult A. alba. Ten specimens were analyzed using radiographic, morphometric, histological, scanning electron microscopy, and three‐dimensional ...
Julia Vaz Feio, Max Alex Santos Ferreira, Elane Guerreiro Giese, Érika Branco, Antônio Basílio Guerreiro Junior, Ana Rita de Lima   +5 more
wiley   +1 more source

Atrial Septal Defect secundum with inferior floppy rim in the elderly: surgical closure or transcatheter closure? A case report

Journal of the Pakistan Medical Association
Atrial Septal Defect closure in childhood and early adulthood has a good prognosis, but in older individuals the risk-benefit ratio is not as straightforward. We report a 57-year-old man who was easily fatigued when exercising.
Irawati Hajar Kikuko, Achmad Lefi, Steve Freyssinet Karundeng, Agus Subagjo, A’ Rofah Nurlina Puspitasari, Alqi Yutha   +5 more
doaj   +1 more source

Transjugular closure of a two-hole atrial septal defect in a child with iliac vein thrombosis

Annals of Pediatric Cardiology, 2013
The internal jugular vein is not a typical vascular access line during the percutaneous closure of an atrial septal defect. We report the closure of a double atrial septal defect with a single device, using a transjugular venous approach, in a child with
Osman Baspinar, Khaleel Ibrahim Al-Hadidy, Mehmet Kervancioglu   +2 more
doaj   +1 more source

TWEAK/Fn14 Signaling Drives Oxidative Cardiac Injury in Systemic Lupus Erythematosus: Evidence From Patient Biomarker Studies, Lupus Mouse Models, and Cardiomyocyte Assays

Arthritis &Rheumatology, EarlyView.
Objective Cardiac involvement is a major cause of morbidity in systemic lupus erythematosus (SLE). Tumor necrosis factor–like weak inducer of apoptosis (TWEAK) is elevated in SLE, but its contribution to lupus‐associated cardiac injury is unclear. We investigated the role of TWEAK/fibroblast growth factor–inducible 14 (Fn14) signaling in SLE‐related ...
Yale Liu, Zhu Yan, Xueting Peng, Meixuan Li, Juan Wang, Yan Zhang, Xiaoqian Hu, Mingzhu Zhou, Kaixuan Ren, Dan Zhang, Xingyi Guo, Yumin Xia, Huanhuan Huo   +12 more
wiley   +1 more source