Results 151 to 160 of about 98,661 (266)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2099-2105, September 2026.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Inferior Vena Cava Stenosis Mimicking Right Heart Failure in Carcinoid Heart Disease. [PDF]

JACC Case Rep
Vila-Sanjuán S, Vallejo N, Martí-Aguasca G, Cuéllar H, Lafuente MP, Hernando J, García-Alvárez A, Capdevila J, Ferreira-González I, Oristrell-Santamaria G.   +9 more
europepmc   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2140-2150, September 2026.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

A Small Mass Causing a Big Problem: Severe Aortic Regurgitation Induced by a Papillary Fibroelastoma. [PDF]

Cureus
Bajouka J, Afram R, Deshmukh R.
europepmc   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2151-2156, September 2026.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Treatment of Acute M3 Thrombosis. [PDF]

JACC Case Rep
Syed BH, Pink K, Sunner GK, Hull R, Worku B, Perk G, Ramasubbu K, Jones MM, Rong L, Chan M, Reisman M, Mihatov N.   +11 more
europepmc   +1 more source

Strategies to Identify Echocardiogram Complexity to Support Learning Echocardiogram Interpretation

Canadian Journal of Cardiology
Thomas C. Raissi, Thivya Sivarajan, Aws Almufleh, Annabel Chen-Tournoux, Robin Ducas, Parvathy Nair, Matthew Sibbald, Graham C. Wong, Samuel C.B. Siu, Sarah Blissett   +9 more
openaire   +2 more sources

The Prevalence and Contributing Factors of Work‐Related Musculoskeletal Disorders in Cardiac Sonographers: A Systematic Review

Sonography, Volume 13, Issue 3, September 2026.
ABSTRACT Background Cardiac sonographers (CS) are highly susceptible to work‐related musculoskeletal disorders (WMSD) with over 85% reporting symptoms. To guide targeted prevention efforts, this review investigates the WMSD most frequently experienced by CS and their contributing factors. Methods Studies were eligible if they involved CS, outlined WMSD,
Isabella Borg, Paul Stoodley
wiley   +1 more source

Clinical measurements of aortic stiffness and peripheral resistance using a routine echocardiogram. [PDF]

Physiol Rep
Gudenkauf M, Kumar S, Manring ND.
europepmc   +1 more source