Results 151 to 160 of about 168,609 (264)

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Readability of patient education materials on cardiac magnetic resonance imaging. [PDF]

Eur Heart J Imaging Methods Pract
Piersson AD, Ofori-Manteaw B, Mumuni HN, Dzefi-Tettey K.   +3 more
europepmc   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

Endomyocarditis in Eosinophilic Granulomatosis With Polyangiitis: Cardiac Magnetic Resonance Imaging Highlights Treatment Success. [PDF]

JACC Case Rep
Pereyra Acha E, López Gómez D, Moure Roget C, González Sucarrats S, Colomé Argemí A, Ramírez Ruiz J, Sabaté Tenas M, Sánchez Hidalgo A.   +7 more
europepmc   +1 more source

Back Again to the Future: A New Era for Cerebroprotection

Annals of Neurology, EarlyView.
Cerebroprotection is a fresh framework for designing neurological therapy that targets glia and vascular cells, in addition to neurons. In the future, successful cerebroprotection will involve targeting all elements of the neurovascular unit. Preclinical trials must include functional outcomes, as well as lesion morphometry.
Patrick Lyden
wiley   +1 more source

Comparison of echocardiographic and cardiac magnetic resonance imaging measurements of systolic function during breast cancer therapy. [PDF]

BMC Cardiovasc Disord
Huynh J, Malmgren A, Kraen M, Trägårdh E, Dencker M.   +4 more
europepmc   +1 more source

Detecting Awareness in the Intensive Care Unit Using Functional Near‐Infrared Spectroscopy

Annals of Neurology, EarlyView.
Objective Signs of awareness after acute severe brain injury are critical for informing goals‐of‐care decisions, ranging from the continuation of aggressive life‐sustaining therapy to comfort‐focused end‐of‐life measures. However, awareness may go undetected in some critically ill patients when assessed using bedside behavioral neurological examination.
Karnig Kazazian, Jack de Jeu, Androu Abdalmalak, Sergio L. Novi, Matthew Kolisnyk, Garima Gupta, Laura E. Gonzalez‐Lara, Teneille E. Gofton, Loretta Norton, Derek B. Debicki, Adrian M. Owen   +10 more
wiley   +1 more source

The Role of Cardiac Magnetic Resonance Imaging in the Management of Hypertrophic Cardiomyopathy. [PDF]

J Cardiovasc Dev Dis
Pugliese L, Luciano A, Chiocchi M.
europepmc   +1 more source

Cardiac Findings in Amyotrophic Lateral Sclerosis: A Magnetic Resonance Imaging Study [PDF]

, 2017
Angela Rosenbohm, Benjamin Schmid, Dominik Buckert, Wolfgang Rottbauer, Jan Kassubek, Albert C. Ludolph, Peter Bernhardt   +6 more
openalex   +1 more source

A Lightweight Skin‐Adhesive Fiber Bragg Grating Sensor to Advance Minimally Invasive Healthcare Monitoring

Advanced NanoBiomed Research, EarlyView.
A novel self‐adhesive hydrogel matrix is engineered to embed a fiber Bragg grating sensor for real‐time monitoring of physiological strain signals. The developed system conforms to the skin without external supports and, thanks to the fiber–matrix mechanical coupling, captures both subtle and large‐scale deformations.
Ilaria Condò, Marcella Trombetta, Emiliano Schena, Daniela Lo Presti, Sara Maria Giannitelli   +4 more
wiley   +1 more source