Results 241 to 250 of about 373,905 (314)

Association Between Systemic Inflammation Response Index, Worsening of Left Ventricular Systolic Function and Prognosis in Patients with Coronary Artery Disease. [PDF]

J Inflamm Res
Ruan H, Lu X, Lu H, Huang H, Huang Z, Tang S, Yuan Z, Jiang R, Xin J, Tang T, Liu J, Liu Y, Tan N.   +12 more
europepmc   +1 more source

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

Cone Reconstruction for Ebstein Anomaly: Effect on Tricuspid Valve Growth and Biventricular Remodelling in Children. [PDF]

Interdiscip Cardiovasc Thorac Surg
Lee JH, Kim WH, Baek SM, Kwon HW, Cho S, Kwak JG, Lee YS.   +6 more
europepmc   +1 more source

Striking Bone Marrow Plasmacytosis Resulting From Visceral Leishmaniasis

American Journal of Hematology, EarlyView.
Vishakha Sovani, Jennifer Ryan, Barbara J. Bain   +2 more
wiley   +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

Natural history of cardiac involvement in women carrying pathogenic DMD gene variants: a 7-year longitudinal study. [PDF]

J Neurol
Lyu Z, Joensen H, Poulsen NS, Hjortrup MB, Slipsager A, Teitsdóttir B, Fornander F, Solheim TÅ, Hansen AE, Vejlstrup NG, Vissing J.   +10 more
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Cardiac Function in Fetuses with Congenital Diaphragmatic Hernia (CDH) Before and After Fetoscopic Endoluminal Tracheal Occlusion (FETO)-A Systematic Review. [PDF]

Life (Basel)
Piotrkowicz E, Kosiński P.
europepmc   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

An atypical case of Takotsubo cardiomyopathy in a middle-aged male triggered by work-related stress: case report. [PDF]

Eur Heart J Case Rep
Albizreh B, Manoher G, Othman F.
europepmc   +1 more source