Results 121 to 130 of about 50,118 (258)

Unique Shield: An Obstructive Huge Tricuspid Pouch Associated With Ventricular Septal Defect Developing Into Adulthood. [PDF]

JACC Case Rep
Rentapalla SK, Kumar B, Mukherjee A, Gupta A, Srivastava Y.   +4 more
europepmc   +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

Mortality in patients with ventricular septal defect in Sweden: a national register study. [PDF]

Open Heart
Lundberg P, Fedchenko M, Giang KW, Eckerström F, Eriksson P, Dellborg M, Mandalenakis Z.   +6 more
europepmc   +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

Battling Right Ventricular Dysfunction in Post-Infarction Ventricular Septal Defect-A Case Report and Comprehensive Review of Literature. [PDF]

Life (Basel)
Moldovan H, Dobra I, Safta S, Robu M, Guta A, Preda S, Voicu A, Girel M, Alexandrescu A, Zaharia O.   +9 more
europepmc   +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

Is Left Bundle Branch Pacing Feasible in Patients With Ventricular Septal Defect? [PDF]

Ann Noninvasive Electrocardiol
Luo B, Jiang L, Zhang L, Shen J.
europepmc   +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

Surgical repair of a ventricular septal defect following low-velocity blunt chest trauma. [PDF]

BMC Cardiovasc Disord
Yang Y, Zhou X, Tang H, Wei X.
europepmc   +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