Results 121 to 130 of about 13,938 (301)
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 +3 more
wiley +1 more source
, 2021 A research report submitted to the Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, in the partial fulfilment of the requirements for the degree of Master of Medicine in the branch of Anaesthesiology, 2021Background ...
Witt, Jonathan
core
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.In this study, we primarily simulated pathological myocardial remodeling induced by transverse aortic constriction surgery and found significant cardiac hypertrophy and fibrosis, characterized by deteriorated cardiac function. Oxidative stress response is considered as a pivotal pathological process, which contributes to inflammation and apoptosis of ...
Yijia Wang +12 more
wiley +1 more source
The Anatomical Record, EarlyView.Abstract Hadrosaurid dinosaurs are generally regarded as “crested” or “non‐crested” depending on the presence or absence of a bony cranial crest. At least one supposedly “non‐crested” hadrosaur is known to have possessed a soft tissue cranial crest (or comb), based on an exceptionally preserved “mummified” specimen. Here we redescribe this specimen and
Henry S. Sharpe +4 more
wiley +1 more source
Emergency Care and MedicineBackground/Objectives: Optimization of the frequency and depth of chest compressions is considered essential for effective cardiopulmonary resuscitation in patients with cardiac arrest.
José Manuel García-Álvarez +1 more
doaj +1 more source
The Anatomical Record, EarlyView.Abstract Prozostrodon brasiliensis, a probainognathian cynodont of the clade Prozostrodontia, is recognized as a key taxon for understanding the origin of Mammaliaformes and mammals. Despite detailed investigations of its cranial anatomy, the postcranial skeleton has received comparatively less attention.
Iasmim M. Michelotti +4 more
wiley +1 more source
Sheep Horn Development Revealed by Multi‐Tissue and Cross‐Species Transcriptomic Analysis
Animal Research and One Health, EarlyView.Multi‐tissue and cross‐species transcriptomics with allele‐specific expression show sheep horns are a composite organ integrating epidermal and osteogenic programs. Conserved horn gene modules and cis‐regulatory variation fine‐tune expression networks underlying horn development and size (small scurs vs. large spiral horns).
Hao Li +10 more
wiley +1 more source
SAGE Open MedicineObjective: This pilot study aims to assess how individuals with rhythm perception, particularly musicians, are able to maintain the predefined chest compression rate during cardiopulmonary resuscitation compared to people without rhythm perception ...
David Peran +3 more
doaj +1 more source
Effects of bed height on the performance of chest compressions
, 2009 OBJECTIVES: the correct chest compression technique was emphasised to enhance the result of cardiopulmonary resuscitation in the 2005 guidelines. the present study compared the effects of different bed heights, including a bed at knee height, on the ...
조준호 +3 more
core +1 more source