Results 221 to 230 of about 5,143,829 (287)

Neurodevelopmental Outcomes in Early Adolescence: The Pediatric Heart Network's Single Ventricle Reconstruction Trial. [PDF]

Circulation
Miller TA, Sharma B, Gongwer R, Trachtenberg FL, Newburger JW, Goldberg CS, Gustafson KE, Gaynor JW, Votava-Smith JK, Lambert LM, Sananes R, Kral MC, Tsang R, Heinrich KP, Cnota J, Shah A, Ilardi D, Pediatric Heart Network Investigators.   +17 more
europepmc   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Cardiac autonomic function in patients with single ventricle physiology after Fontan palliation: A literature review. [PDF]

Int J Cardiol Congenit Heart Dis
Polyakova E, Nederend M, Kies P, Egorova AD, Jongbloed MRM.   +4 more
europepmc   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Correction: 'Parameter selection and optimization of a computational network model of blood flow in single-ventricle patients' (2025), by Taylor-LaPole. [PDF]

J R Soc Interface
LaPole AM, Paun M, Lior D, Weigand J, Puelz C, Olufsen MS.   +5 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Comparison of Clinical Features and Hemodynamics of Single Ventricle Patients With and Without Interventional Closure of Veno-Venous or Aortopulmonary Collaterals. [PDF]

J Cardiovasc Dev Dis
Link H, Callegari A, Knirsch W, Kretschmar O, Quandt D.   +4 more
europepmc   +1 more source

Repeated instillations of bleomycin in male mice induce a perivascular remodeling at distance of fibrotic areas in the context of progressive pulmonary fibrosis

Animal Models and Experimental Medicine, EarlyView.
We established a model of progressive pulmonary fibrosis via repeated intratracheal instillation (ITI) of leomycin (BLM) (A). Perivascular remodeling was observed in areas distant from the fibrotic areas and lesions induced by repeated ITI of BLM simulate those observed in IPF patients (B). Thus, this model has the capacity to track and investigate the
Céline‐Hivda Yegen, Zakaria Maakoul, Dominique Marchant, Patrice Callard, Julia Bourse, Jean‐François Bernaudin, Hilario Nunes, Carole Planès, Emilie Boncoeur, Nicolas Voituron   +9 more
wiley   +1 more source

Interstage feeding and caregiver impact on single ventricle patients. [PDF]

Cardiol Young
Momin NH, Nelson JL, Steiden C, Coolidge N, Aljiffry A, Simione M.   +5 more
europepmc   +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