Results 111 to 120 of about 152,173 (338)

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz   +3 more
wiley   +1 more source

Associations between sedentary time, physical activity and bone health among older people using compositional data analysis [PDF]

open access: yes, 2018
Introduction : Aging is associated with a progressive decrease in bone mass (BM), and being physical active is one of the main strategies to combat this continuous loss.
Alegre, Luis M.   +7 more
core   +3 more sources

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote   +9 more
wiley   +1 more source

The cumulative analgesic effect of repeated electroacupuncture is modulated by Adora3 in the SCDH of mice with neuropathic pain

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Neuropathic pain management via repeated electroacupuncture. Abstract Background Existing remedial approaches for relieving neuropathic pain (NPP) are challenging and open the way for alternative therapeutic measures such as electroacupuncture (EA). The mechanism underlying the antinociceptive effects of repeated EA sessions, particularly concerning ...
Faisal Ayub Kiani   +6 more
wiley   +1 more source

Influence of the arterial elastic component on the response to balloon angioplasty in femoral arteries of a healthy porcine model

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study evaluates the role of elastin in vascular response 28 days after balloon angioplasty using uncoated and paclitaxel‐coated balloons in a healthy porcine model. The results show higher elastin content in external femoral arteries, which is inversely correlated with vascular injury, inflammation, smooth muscle cell loss, proteoglycan and fibrin
María Gracia de Garnica García   +7 more
wiley   +1 more source

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