Results 71 to 80 of about 416,233 (177)

Gas exchange and pulmonary stress variations during SCUBA and breath‐hold diving in open seawater

open access: yesThe Journal of Physiology, EarlyView.
Abstract figure legend Healthy, trained divers were studied before, during and after diving in open seawater with different techniques. SCUBA divers (diving to 15 or 40 m with air; cycling at depth) and breath‐hold divers (BHDs; sled‐assisted dives to 15, 25 or 40 m) underwent underwater and surface arterial blood gas (ABG) sampling.
Matteo Paganini   +11 more
wiley   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2396-2404, October 2026.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Virtual brain endocasts of the palaeanodont Metacheiromys marshi and the neurosensory evolution of early Pholidotamorpha

open access: yesJournal of Anatomy, Volume 249, Issue 4, Page 821-846, October 2026.
We describe the endocranial anatomy of Metacheiromys marshi. Decrease in olfaction and eye movement control occurred through time in Pholidotamorpha and is likely linked to fossorial adaptations. The development of the orbital gyrus might be related to the evolution of myrmecophagy and the emergence of a protrusile tongue in early Pholidotamorpha ...
Eduard Cabasés Bru   +4 more
wiley   +1 more source

Death by patent foramen ovale in a soccer player [PDF]

open access: yes, 2013
A 34-year-old male patient was referred for primary percutaneous coronary intervention for ST-segment elevation myocardial infarction with cardiogenic shock and was found to have embolic left coronary artery occlusion and subsegmental pulmonary artery ...
Khattab, Ahmed A.   +2 more
core  

Child health [PDF]

open access: yes, 2014
Contents: President’s address at the MMCFD graduation of vocational trainees, 25 March 2014 - Pierre Mallia; MMCFD Graduation Photos 25 March 2014The mission of the Journal of the Malta College of Family Doctors (JMCFD) is to deliver accurate ...
Mallia, Pierre   +2 more
core  

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2010-2018, September 2026.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li   +25 more
wiley   +1 more source

Joint Metabonomic and Instrumental Analysis for the Classification of Migraine Patients with 677-MTHFR Mutations [PDF]

open access: yes, 2010
Migraine is a neurological disorder that correlates with an increased risk of cerebrovascular lesions. Genetic mutations of the MTHFR gene are correlated to migraine and to the increased risk of artery pathologies.
LIBONI W   +16 more
core   +1 more source

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

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
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   +2 more
wiley   +1 more source

Advances in the Study of the Correlation Between Patent Foramen Ovale and Migraine

open access: yes
This article examines the relationship between patent foramen ovale (PFO) and migraine, emphasizing the mechanisms underlying the connection and the historical status of transcatheter PFO closure as a treatment for migraine.
Fulin Liu   +4 more
core   +1 more source

When to close a patent foramen ovale

open access: yes, 2008
Transcatheter closure of the patent foramen ovale was the most common interventional procedure performed in our adult congenital heart disease unit in 2006.
Martin, RP, Turner, MS, Kenny, D
core   +1 more source

Home - About - Disclaimer - Privacy