Results 41 to 50 of about 62,879 (264)

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Awake Surgical Mitral Valve Repair after Transcatheter Aortic Valve Replacement

The Thoracic & Cardiovascular Surgeon Reports, 2021
Transcatheter aortic valve replacement has become a popular choice for cases with severe aortic stenosis. However, when severe mitral regurgitation is comorbid in high-risk patients with severe aortic stenosis, therapeutic options must be weighed for ...
Aina Hirofuji, Hirotsugu Kanda, Yuya Kitani, Hiroyuki Kamiya   +3 more
doaj   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Aortic valve replacement in octogenarians [PDF]

Journal of Cardiothoracic Surgery, 2007
As our population ages and life expectancy increases the number of people aged over 80 and more referred for cardiac surgery is growing. This study sought to identify the outcome of aortic valve replacement (AVR) in octogenarians.68 patients aged 80 years or more underwent AVR at the Freeman Hospital, between April 2001 and April 2004.
Bose AK, Aitchison JD, Dark JH
openaire   +4 more sources

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

Outcomes in asymptomatic, severe aortic stenosis.

PLoS ONE, 2021
Background and aim of the studyPatients with asymptomatic, severe aortic stenosis are presumed to have a benign prognosis. In this retrospective cohort study, we examined the natural history of contemporary patients advised against aortic valve ...
Anette Borger Kvaslerud, Kenan Santic, Amjad Iqbal Hussain, Andreas Auensen, Arnt Fiane, Helge Skulstad, Lars Aaberge, Lars Gullestad, Kaspar Broch   +8 more
doaj   +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

#4 Surgical Outcomes and Decision Making for Bicuspid Aortic Valve

Graduate Medical Education Research Journal
Mentor: Angela Yetman Program: Pediatrics – Cardiology Type: Original Research Background: Bicuspid aortic valve (BAV) is the most common congenital heart lesion and is associated with aortic stenosis or regurgitation, endocarditis, and/or ascending ...
Adam Larsen, David Danford, Angela Yetman   +2 more
doaj   +1 more source

Surgical treatment for accidentally discovered pseudoaneurysm of the mitral-aortic intervalvular fibrosa with bicuspid aortic valve, ascending aortic aneurysm, and myocardial ischemia: a case report

The Cardiothoracic Surgeon, 2021
Background Pseudoaneurysm of the mitral-aortic intervalvular fibrosa (P-MAIVF) is a rare complication of infective endocarditis and aortic valve replacement. Ruptured P-MAIVF and angina due to compression of the coronary arteries are severe complications
Kentaro Kiryu, Gembu Yamaura, Itaru Igarashi, Takayuki Kadohama, Fuminobu Tanaka, Daichi Takagi, Yoshinori Itagaki, Takeshi Arai, Takuya Wada, Hiroshi Yamamoto   +9 more
doaj   +1 more source

Morphological and morphometric aspects of the equine aortic valve: New insights for comparative studies in mammals

The Anatomical Record, EarlyView.
Abstract New data on the equine aortic valve obtained using advanced techniques is especially important given the greater availability of animal models for translational research. Here we characterized the morphological and morphometric aspects of the equine aortic valve from 60 healthy hearts collected at equine abattoirs.
Vitor Pires Pereira, Victoria Brondani de Oliveira, Carlos Eduardo Seyfert, Luciano de Morais‐Pinto   +3 more
wiley   +1 more source