Results 81 to 90 of about 3,896,028 (254)

Reframing Trisomy 13 and 18 Care: Moving Beyond the Myth of “Incompatibility With Life” in a South African and Low‐and Middle‐Income Country Context

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13 (T13) and trisomy 18 (T18) have historically been described as “lethal” or “incompatible with life,” contributing to diagnosis‐based limitations of care. Contemporary evidence demonstrates greater heterogeneity in survival and outcomes than previously recognized, including among selected children receiving intensive care or cardiac ...
H. L. Malherbe, M. Araujo, L. Balimba, J. A. Joshi, P. Makhetha, M. Meiring, M. T. Mpe, D. Reddy, B. Shingwenyana, J. C. Carey   +9 more
wiley   +1 more source

Gender differences in efficiency of the telemedicine care of heart failure patients. The results from the TeleEduCare-HF study

Archives of Medical Science
Introduction The aim of this study was to implement a model of healthcare for patients with heart failure (HF) and to assess the differences between men and women in the study population.
Agata Bielecka-Dąbrowa, Dariusz Trzmielak, Agata Sakowicz, Kamil Janikowski, Maciej Banach   +4 more
doaj   +1 more source

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

Understanding Arthrogryposis Multiplex Congenita (AMC) Across the Lifespan: An Integrative Review of the Adult AMC Registry's Contributions With Lived Experience Partnerships

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This reflective essay explores how collaborative work between researchers and adults living with Arthrogryposis Multiplex Congenita (AMC) has deepened and broadened our understanding of what it means to live with this rare condition. By intentionally integrating the lived experiences of individuals with AMC into research processes, the ...
Bonita J. Sawatzky, Megan K. MacGillivray, Tracey Schalk, William Bennett Mortenson   +3 more
wiley   +1 more source

Congenital heart diseases - strategy for treatment

, 2008
Congenital heart diseases (CHD); Common CHD, CHD – the trends; CHD- diagnostic procedures; CHD- surgical treatment..
Milev, Ivan
core   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source

An alternative surgical approach for isolated pulmonary valve infective endocarditis secondary to restrictive ventricular septal defect: a case report

The Cardiothoracic Surgeon
Background Native pulmonary valve (PV) infective endocarditis (IE) is a rare condition with an incidence of 1.5–2%. Although medical therapy is the mainstay of treatment, surgical intervention is still indicated in cases that fail to respond to ...
Hossameldin Hussein, Ahmed Youssef, Ahmed Mahgoub, Noha Gamal, Amr Farrag, Soha Romeih   +5 more
doaj   +1 more source

Factors influencing the prenatal detection of structural congenital heart diseases

, 2003
Objective To assess the factors influencing the prenatal detection rate of structural congenital heart diseases (CHDs)
A. Lee‐Tannock, S. F. Wong, Cincotta, R.B., F. Y. Chan, R. B. Cincotta, Lee-Tannock, A., Wong, S.F., Ward, C., C. Ward, Chan, F.Y.   +9 more
core   +1 more source

Methacrylated Gelatin and Graphene Oxide Hybrid Hydrogels Composed‐Bioinks for 3D Tissue Engineering

Advanced NanoBiomed Research, EarlyView.
Bioinks made from hydrogels, such as methacrylated gelatin (GelMA), serve as the base material for bioprinted tissues, offering versatility and biocompatibility for a range of applications. Additional components however are still needed to improve functionality and mechanical stability of hydrogels. One of these components is graphene oxide (GO), added
Wanessa S. Mota, Erika S. Lisboa, Victoria L. S. dos Santos, Carine Serafim, Maria L. F. Bezerra, Thais F. R. Alves, Marco V. Chaud, Frederico S. Martins, Juliana C. Cardoso, Eliana B. Souto, Patrícia Severino   +10 more
wiley   +1 more source