G protein-coupled receptor (GPCR) gene variants and human genetic disease.

Genetic variations in the genes encoding G protein-coupled receptors (GPCRs) can disrupt receptor structure and function, which can result in human genetic diseases. Disease-causing mutations have been reported in at least 55 GPCRs for more than 66 monogenic diseases in humans. The spectrum of pathogenic and likely pathogenic variants includes loss of function variants that decrease receptor signaling on one extreme and gain of function that may result in biased signaling or constitutive activity, originally modeled on prototypical rhodopsin GPCR variants identified in retinitis pigmentosa, on the other.

Evaluating the Aromatherapy Recommendation for Pain in the Holistic Nurses' Pain Relief Tools for Patients and Self-Care.

The purpose of the study was to evaluate the usefulness of the aromatherapy (AT) recommendation in the American Holistic Nurses Association's (AHNA's) (Pain Tool). An observational survey design was used and a purposeful sample of 55 nurses were invited to a two-part, 15-question survey administered via SurveyMonkey. The demographic data were analyzed with quantitative analysis and the open-ended questions were analyzed via content analysis.

Tibetan , an allele with loss-of-function properties.

Tibetans have adapted to the chronic hypoxia of high altitude and display a distinctive suite of physiologic adaptations, including augmented hypoxic ventilatory response and resistance to pulmonary hypertension. Genome-wide studies have consistently identified compelling genetic signatures of natural selection in two genes of the Hypoxia Inducible Factor pathway, and The product of the former induces the degradation of the product of the latter. Key issues regarding Tibetan are whether it is a gain-of-function or loss-of-function allele, and how it might contribute to high-altitude adaptation.

Retraction Note: Aluminum in Neurological and Neurodegenerative Disease.

The Editor-in Chief of Molecular Neurobiology has retracted this article [1] at the request of the corresponding author. This is because it significantly overlaps with their previous publication [2]. Both articles report the same results and as such this article is redundant.

Is heart disease a risk factor for low dementia test battery scores in older persons with Down syndrome? Exploratory, pilot study, and commentary.

Objectives: Certain heart conditions and diseases are common in Down syndrome (DS; trisomy 21), but their role in early onset dementia that is prevalent in older adults with DS has not been evaluated. To address this knowledge gap, we conducted a study of risk factors for low neurocognitive/behavioral scores obtained with a published dementia test battery (DTB). Participants were adults with DS living in New York ( = 29; average age 46 years).