Results 101 to 110 of about 36,230 (243)

Perventricular Muscular Ventricular Septal Defect (VSD) Closure under Epicardial Echocardiography Guidance: A Case Report

Journal of Tehran University Heart Center, 2017
Ventricular septal defects (VSDs) are among the most common congenital cardiac lesions. Large defects at apicomuscular regions, especially in young patients, are far from accessible to surgeons for conventional surgery.
Akbar Molaei, Abbas Afrasiabi, Eisa Bilejani, Mahmud Samadi   +3 more
doaj  

Perventricular device closure of the ventricular septal defects in children-first experience in the United Arab Emirates

Journal of Cardiothoracic Surgery
Background Ventricular septal defect (VSD) is the most common congenital cardiac malformation, accounting for approximately 30% of congenital heart defects.
Aleksandr Omelchenko, Neerod Kumar Jha, Nishant Shah, Antoine AbdelMassih, Juan Pablo Montiel, Benedict Raj Rajkumar   +5 more
doaj   +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

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

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, Volume 136, Issue 7, Page 3240-3245, July 2026.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Traumatic biventricular pseudoaneurysm of the heart with ventricular septal defect

The Journal of Thoracic and Cardiovascular Surgery, 1972
P N, Symbas, R E, Ware, I, Belenkie, D O, Nutter   +3 more
openaire   +2 more sources

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

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, Volume 110, Issue 1, Page 64-72, July 2026.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Unravelling the Genetic Mechanisms of Litter Traits in a Maternal Line of Pigs

Journal of Animal Breeding and Genetics, Volume 143, Issue 4, Page 560-580, July 2026.
ABSTRACT Reproductive traits related to litter size are the main indicators of reproductive efficiency in pig production and are continuously evaluated for the selection of maternal lines. Several environmental and genetic factors are involved with the development of these traits.
Guilherme Oselame, Suelen Fernandes Padilha, Maurício Egídio Cantão, Jane de Oliveira Peixoto, Aline Zampar, Adriana Mércia Guaratini Ibelli, Luis Orlando Duitama Carreño, Jader Silva Lopes, Pedro Henrique Ferreira Freitas, Marcelo Silva Freitas, Mônica Corrêa Ledur   +10 more
wiley   +1 more source

‘You can't have an ego in this game’: A simulation primed qualitative inquiry of team reflection in paediatrics

Medical Education, Volume 60, Issue 7, Page 782-791, July 2026.
Abstract Introduction Acute care paediatric teams face ambiguous, dynamic patient care situations that demand adaptability to avoid patient harm. Team huddles and adaptation processes have shown promise in mitigating risk and reducing harm. One team process that may occur in huddles is team reflection (TR), defined as a team's capacity to consciously ...
Rustin Meister, Mary E. McBride, Jan B. Schmutz, Mark Adler, Walter Eppich   +4 more
wiley   +1 more source