Results 121 to 130 of about 95,500 (247)

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

First-Time Successful Trial Without Catheter (TWOC) After GreenLight Laser Photoselective Vaporization of the Prostate (GLL PVP) Surgery for an Enlarged Prostate. [PDF]

Cureus
Islam ABA, Poushi MZ.
europepmc   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR‐F508del Rabbit Model

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disorder frequently associated with impaired mucociliary clearance and bacterial infection. Individuals carrying a single cystic fibrosis transmembrane conductance regulator (CFTR) mutation exhibit partial CFTR dysfunction and are increasingly recognized as being at risk ...
Do‐Yeon Cho, Alexis E. McFeely, Daniel Skinner, Shaoyan Zhang, Justin Hedvat, Weslee Ping‐ay, Daniel M. Beswick, Justin H. Turner, Bradford A. Woodworth, Jie Xu   +9 more
wiley   +1 more source

Animal models of chronic thromboembolic pulmonary hypertension

Animal Models and Experimental Medicine, EarlyView.
Current animal models of CTEPH. Created using BioRender.com. Abstract Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare, yet life‐threatening disorder characterized by persistent pulmonary vascular obstruction and elevated pulmonary artery pressure, with progressive remodeling and subsequent right heart failure.
Yong‐Jian Zhu, Lin‐Chao Zhou, Xiao‐Xue Zhang, Xiao‐Yang Ren, Yi Yan, Shao‐Fei Liu   +5 more
wiley   +1 more source

Hematoma Interleukin‐1 Receptor Antagonist Concentrations Predict Long‐Term Outcome in Acute Human Intracerebral Hemorrhage

Annals of Neurology, EarlyView.
Objectives The interleukin (IL)‐1, IL‐6, and C‐reactive protein (CRP) pathway is central to the immune response after intracerebral hemorrhage (ICH). We tested for associations between hematoma and plasma cytokine concentrations and patient outcomes in Minimally Invasive Surgery Plus Rt‐PA for ICH Evacuation Phase III (MISTIE III) participants ...
Adrian R. Parry‐Jones, Blessing Nyakutsikwa, Michael H. Askenase, Matthew Gittins, Mary Newland, Siobhan Crilly, Paul R. Kasher, Yvonne Davidson, Federico Roncaroli, Stuart M. Allan, Lauren H. Sansing, Wendy Ziai, Daniel F. Hanley, INFLAME‐ICH Investigators, Mark Harrigan, David Miller, Judy Huang, Wendy Ziai, Jack Jallo, Fred Rincon, Gaurav Gupta, Igor Rybinnik, Diederik Bulters, Mary Leigh Gelea, Andras Buki, Erzsebet Ezer, Hiren Patel, Adrian Parry‐Jones, Charles Matouk, Kevin Sheth / Lauren Sansing, Ali Zomorodi, Michael James, Pal Barzo, Krisztian Tanczos, Gregory Thompson, Ventatakrishna Rajajee/Aditya Pandey, Peter Nakaji, Shawn E. Wright, Walter Galicich, Thomas Bergman, Andrew Carlson, Huy Tran, Philipp Taussky, Safdar Ansari, Fuat Arikan, Marcelino Baguena, Ronald Reimer, W. David Freeman, Ania Pollack, John Terry, Geza Mezey, Katalin Szabo/Laszlo Csiba, Robert F. James, Steven J. Barrer, Larami MacKenzie   +54 more
wiley   +1 more source

Natural Aging of Biomaterials in Ambient and Physiological Environments

Advanced NanoBiomed Research, EarlyView.
Biomaterials used in biomedical applications can change their physical properties over time, even under ambient and physiological conditions. This review highlights key studies on the natural aging of materials ranging from soft hydrogels to metals and ceramics, emphasizing how time‐dependent changes influence function and performance.
Shuyu Zhang, Anne E. Staples
wiley   +1 more source

115TRIAL WITHOUT CATHETER: THE ROLE OF BLADDER FILLING PRIOR TO REMOVAL OF URETHRAL CATHETERS. A SYSTEMATIC REVIEW OF RANDOMISED CONTROLLED TRIALS [PDF]

Age and Ageing, 2019
D Thayabaran, E Hindley, R Schiff
openaire   +1 more source

Catheter body-surface fixation after transurethral prostate resection: A low-value nursing practice as evidenced in a randomized controlled trial. [PDF]

PLoS One
Zhu Y, Wang Q, Jia H, Zhao G, Lü Y, Zhang X, Dong H.   +6 more
europepmc   +1 more source

From armadillos to sloths: Patterns and variations in xenarthran coronary anatomy

The Anatomical Record, EarlyView.
Abstract Species of the superorder Xenarthra play a vital ecological role in the Neotropics. Despite their evolutionary significance, anatomical studies on their coronary circulation remain scarce. This study investigated the coronary anatomy of 82 hearts from nine Xenarthra species across the Dasypodidae, Myrmecophagidae, and Bradypodidae.
Wilson Viotto‐Souza, André Luiz Quagliatto Santos, Marcelo Abidu‐Figueiredo, Thaís Aparecida Silva, Rodrigo Ananias Barreiros Silva, Paulo de Souza‐Junior   +5 more
wiley   +1 more source