Results 121 to 130 of about 251,261 (303)

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Neonatal azithromycin administration to prevent infant mortality: study protocol for a randomised controlled trial. [PDF]

, 2019
IntroductionBiannual mass azithromycin distribution to children aged 1-59 months has been shown to reduce all-cause mortality. Children under 28 days of age were not treated in studies evaluating mass azithromycin distribution for child mortality due to ...
Bagagnan, Cheik, Bountogo, Mamadou, Brogdon, Jessica, Coulibaly, Boubacar, Doan, Thuy, Godwin, William W, Lebas, Elodie, Lietman, Thomas M, Lin, Ying, NAITRE Study Group, Nebie, Eric, Oldenburg, Catherine E, Ouattara, Mamadou, Porco, Travis, Sie, Ali, Zabre, Pascal   +15 more
core  

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +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, EarlyView.
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

Future Role of New Negative Inotropic Agents in the Era of Established Surgical Myectomy for Symptomatic Obstructive Hypertrophic Cardiomyopathy

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022
Barry J. Maron, Martin S. Maron, Mark V. Sherrid, Ethan J. Rowin   +3 more
doaj   +1 more source

Comparing long‐term outcomes of septal myectomy and mitral valve replacement in hypertrophic cardiomyopathy patients: A retrospective cohort study in Iran

Health Science Reports
Background Hypertrophic cardiomyopathy (HCM) affects millions of individuals worldwide. In severe cases, it can cause life‐threatening conditions such as left ventricular outflow tract (LVOT) obstruction, mitral regurgitation (MR), and sudden cardiac ...
Aryan Ayati, Mehran Khoshfetrat, Saeed Davoodi, Seyed Hossein Ahmadi Tafti, Reza Arefizadeh   +4 more
doaj   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Adaptations to iron deficiency: cardiac functional responsiveness to norepinephrine, arterial remodeling, and the effect of beta-blockade on cardiac hypertrophy. [PDF]

, 2002
BackgroundIron deficiency (ID) results in ventricular hypertrophy, believed to involve sympathetic stimulation. We hypothesized that with ID 1) intravenous norepinephrine would alter heart rate (HR) and contractility, 2) abdominal aorta would be larger ...
Chew, Herbert George, Gibbs, Brett Jason, Hearthway, Megan Lesley, Motsko, Madelyne, Mullendore, Michael Eugene, Premo, Daniel Aaron, Sappington, Andrea, Turner, Lexa Rae, Walker, LeeAnn   +8 more
core   +1 more source

Temperature‐Controlled Radiofrequency for Severe Nasal Airway Obstruction: A Non‐Inferiority Comparison With Surgical Intervention

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction Temperature‐controlled radiofrequency (TCRF), septoplasty (ST) with turbinate reduction, and functional rhinoplasty (FR) are treatment options for nasal airway obstruction (NAO) and nasal valve dysfunction (NVD), but no direct comparison of these procedures has been performed. Methods This prospective, open‐label, non‐inferiority (
Greg Davis, Zeeshan Aziz, Jose Barrera, William Blythe, Chris Davis, Steven Davis, Thomas Higgins, Charles Lano, Gregory Levitin, Frederick Lopatin, Samuel Oyer, Stacey Silvers, Ariel Waitzman, Randall Ow   +13 more
wiley   +1 more source