Results 221 to 230 of about 1,208,488 (310)

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Quantitative Assessment of Myocardial Perfusion in Physiological and Pathological Hypertrophy Using Myocardial Contrast Echocardiography. [PDF]

Clin Cardiol
Chunyao L, Ruihan J, Kai L, Mingming L, Xiaofan W, Qifeng L, Xiaoxia S, Yu T, Juanjuan S, Pin S.   +9 more
europepmc   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Case Report: Mavacamten in mid-ventricular and apical hypertrophic cardiomyopathy-a case of targeted therapy beyond left ventricular outflow tract obstruction. [PDF]

Front Med (Lausanne)
Yang L, Dai H, Rong Y.
europepmc   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Patchy Earliest Activation on Near-Field Annotation Mapping: A Pitfall in Ablation of Premature Ventricular Contractions Originating From the Right Ventricular Outflow Tract. [PDF]

J Arrhythm
Sakamoto Y, Osanai H, Yoshida E.
europepmc   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Procainamide-facilitated induction of Purkinje premature ventricular contractions in a patient with idiopathic ventricular fibrillation

HeartRhythm Case Reports
Mai Badr, MD, Sindhuja Palle, MD, Craig Moskowitz, MD, Aneesh Tolat, MD   +3 more
doaj   +1 more source

Ventricular Tachycardia as the Initial Presentation of Tuberculous Myocarditis. [PDF]

JACC Case Rep
Subira-Ingla A, Francisco-Pascual J, Santos-Ortega A, Pizzi MN, Roque A, Rodríguez-Palomares JF, Ferreira-González I, Oristrell-Santamaria G.   +7 more
europepmc   +1 more source