Results 81 to 90 of about 25,126 (264)

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen   +10 more
wiley   +1 more source

Long-term follow up after transcatheter closure of atrial septal defect and patent foramen ovale in adults

open access: yesZdravniški Vestnik, 2014
Background: The aim of our study was to define long-term electrocardiographic and echocardiographic changes and complications after transcatheter closure of atrial septal defect and patent foramen ovale in adults.Methods: The clinical ...
Jure Dolenc   +4 more
doaj  

Comment to: Significant endothelin release in patients treated with foam sclerotherapy, by Frullini A, Barsotti MC, Santoni T, Duranti E, Burchielli S, Di Stefano R. Dermatol Surg 2012;38:741–7.

open access: yesVeins and Lymphatics, 2012
A greater incidence of cough, transient visual and neurological disturbances have been reported with foam rather than with liquid sclerosant. These complications have often been associated with migraine and patent foramen ovale (PFO), a common condition ...
Francesco Ferrara
doaj   +1 more source

Long‐Term Secondary Preventive Medication Persistence and Adherence in Young Ischemic Stroke Survivors: A Prospective Single‐Center Cohort Study

open access: yesBrain and Behavior, Volume 16, Issue 2, February 2026.
In a prospective cohort of 226 young ischemic stroke survivors, medication persistence was high (80.1%) over a median 3.9‐year follow‐up, while adherence was moderate. Older age and large artery atherosclerosis predicted better adherence, whereas younger age and lower quality of life were associated with poor adherence.
Qiqi Wang   +8 more
wiley   +1 more source

The molecular genetics and cellular mechanisms underlying pulmonary arterial hypertension [PDF]

open access: yes, 2012
Pulmonary arterial hypertension (PAH) is an incurable disorder clinically characterised by a sustained elevation of mean arterial pressure in the absence of systemic involvement.
Machado, Rajiv
core   +2 more sources

Supradiaphragmatic central venous catheter tip malposition detection using nonagitated solutions: A feasibility and comparative analysis

open access: yesHong Kong Journal of Emergency Medicine, Volume 33, Issue 1, February 2026.
Abstract Background Contrast‐enhanced ultrasound (CEUS) using normal saline (NS) is an alternative to chest radiograph (CXR) to confirm central venous catheter (CVC) tip position during emergency. We aim to assess the feasibility and compare the efficacy of Dextrose 50% (D50%) and NS in detecting CVC malposition against CXR.
Nor Afifah Iberahim   +4 more
wiley   +1 more source

Carcinoid Heart Disease With Hypoxemia

open access: yesJACC: Case Reports
Patent foramen ovale (PFO) complicated with carcinoid heart disease (CHD) can cause severe hypoxia and worsening clinical conditions. We report the case of a patient with CHD in poor general condition with multiple severe valve regurgitations and PFO ...
Tomohiro Suenaga, MD   +8 more
doaj   +1 more source

Secondary stroke prevention: patent foramen ovale, aortic plaque, and carotid stenosis [PDF]

open access: yes, 2017
Stroke is the most debilitating cardiovascular event. It has a variety of causes that may be present simultaneously. In young or otherwise healthy people, the search for a patent foramen ovale (PFO) has become standard.
Diener, Hans C.   +3 more
core  

White–Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects

open access: yesClinical Genetics, Volume 109, Issue 2, Page 335-340, February 2026.
New insights into White–Sutton syndrome with a collection of 19 Italian patients. Due to its complexity, we stress the importance of a systematic evaluation following the diagnosis and a thoughtful management of patients. Preliminary genotype–phenotype correlation analysis suggests the association between disruptive splicing variants and more severe ...
Anna Facchini   +14 more
wiley   +1 more source

Home - About - Disclaimer - Privacy