Results 121 to 130 of about 64,649 (279)

Human gene copy number spectra analysis in congenital heart malformations [PDF]

The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined.
Bick, David P., Broeckel, Ulrich, Goetsch, Mary A., Harris, Susan, Hidestrand, Mats, Mahnke, Donna K., Mitchell, Michael, Pelech, Andrew N., Simpson, Pippa, Stamm, Karl D., Struble, Craig, Tomita-Mitchell, Aoy, Tuffnell, Maureen E., Tweddell, James S.   +13 more
core   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

A simple screening method for determining knowledge of the appropriate levels of activity and risk behaviour in young people with congenital cardiac conditions [PDF]

Objective: To assess a novel method for assessing risk and providing advice about activity to children and young people with congenital cardiac disease and their parents. Design and setting: Questionnaire survey in outpatient clinics at a tertiary centre
Kendall, L, Lewin, R, Parsons, J, Sloper, P   +3 more
core   +1 more source

The Prognosis of Atrial Septal Defect [PDF]

BMJ, 1957
M, CAMPBELL, C, NEILL, S, SUZMAN
openaire   +2 more sources

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Pre‐Sport Cardiac Evaluation in Children: Detection of Risks Other Than Sudden Cardiac Death

Annals of Noninvasive Electrocardiology, Volume 31, Issue 4, July 2026.
In children who want to play sports, is a cardiac evaluation necessary only for sudden cardiac death? ABSTRACT Objective Sudden deaths may occur in children and adolescents due to unexpected cardiac problems during sports. This study aimed to screen for abnormalities that may lead to future morbidity in addition to the risk of sudden death and to ...
Mehmet Öncül, Abdulgani Gülyüz
wiley   +1 more source

Spontaneous resolution of atrial and ventricular septal defects in Malta [PDF]

Congenital heart disease (CHD) is the commonest congenital malformation, and ventricular septal defect (VSD) and atrial septal defect (ASD) are the commonest forms of CHD.
Bailey, Mark, Grech, Victor E., Mercieca, Victor   +2 more
core  

Gestational Diabetes Mellitus and Adverse Maternal and Neonatal Health Outcomes: an Umbrella review of Meta‐Analyses

Obesity Reviews, Volume 27, Issue 7, July 2026.
ABSTRACT Introduction This study systematically synthesized evidence on adverse health outcomes related to gestational diabetes mellitus (GDM) via an umbrella review with integrated meta‐analyses. Methods The search covered publications from the database (PubMed/MEDLINE, Google Scholar, Embase, and CINAHL) inception to August 12, 2024. Meta‐analyses of
Jiseung Kang, Hyeon Jin Kim, Yeona Jo, Kathryn J. Smith, Arianna R. S. Lark, Fayaz A. Mir, Jaeyu Park, Hayeon Lee, Yumin Kim, Masoud Rahmati, Lee Smith, Sang Youl Rhee, Yejun Son, Dong Keon Yon, Christa J. Nehs   +14 more
wiley   +1 more source

WWOX Mutation as a Rare Cause of Neonatal‐Infantile Parkinsonism Mimicking a Neurotransmitter Disorder: A Case Report

Journal of Paediatrics and Child Health, EarlyView.
Ozge Serce Pehlevan, Gizem Gider Yaman, Anıl Gok, Leman Tekin Orgun   +3 more
wiley   +1 more source

Evaluation of the Utility of Baseline Echocardiogram in Patients With Standard Risk Precursor B‐Lymphoblastic Leukemia

Pediatric Blood &Cancer, Volume 73, Issue 6, June 2026.
ABSTRACT Background A routine baseline echocardiogram is often obtained prior to anthracycline administration in children with cancer. The utility of baseline echocardiogram is unclear in patients with standard risk B‐cell acute lymphoblastic leukemia (SR B‐ALL) as their anthracycline cumulative dose is low.
Ziyad Alrajhi, Alice Pozza, Luc Mertens, Adam Paul Yan, Sarah Alexander   +4 more
wiley   +1 more source