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At least 163 records · Page 9Linked to original sources

A trio to treasure: the elderly, the nurse, and music.

Music is a powerful tool for maintaining and restoring health and is particularly suited to elder care. Music can be used to induce relaxation, alter moods, and create distraction. Music's effect is attributed to its vibrational properties, which are processed through the senses and integrated within the central nervous system. Nurses have a major responsibility to understand, appreciate, and use music in their practice.

Activities of Daily Living↗

Cytosolic Ca2+, Na+/H+ antiport, protein kinase C trio in essential hypertension.

The relationships among the cytosolic free Ca2+ (Cai), protein kinase C (PKC), and the Na+/H+ antiport may hold the key to unraveling the causes and origin of essential hypertension. Increased cellular Ca2+, accelerated Cai turnover rate, or both occur in concert with activation of PKC and the Na+/H+ antiport in a variety of cells. In the vascular smooth muscle cell a rise in Cai produces increased tone and in the kidney it enhances sodium retention through stimulation of the Na+/H+ antiport in the renal tubules. In skeletal muscle increased Cai and augmented PKC activity produces insulin resistance, which is a major characteristic of essential hypertension. Moreover, elevation of Cai, in conjunction with increased activities of PKC and the Na+/H+ antiport, may exert trophic effects on the vasculature and the heart, thereby explaining the narrowing of the vascular lumen in peripheral arteries and the cardiac hypertrophy of long-standing hypertension. Because essential hypertension is a common disorder, its evolutionary advantage in primeval times could rest in skeletal muscle, where higher Ca2+ stores and increased Na+/H+ antiport activity enhanced muscular performance and provided a crucial survival element.

Animals↗

TriosCompass: a snakemake workflow for integrated detection of SNVs, indels, STRs, and structural de novo variants in parent-child trios.

MOTIVATION: The accurate and sensitive identification of de novo variants, which are unique to an individual and not found in the parents' germlines, is critical for understanding the genetic basis of rare diseases, developmental disorders, and evolutionary processes. Existing de novo variant detection pipelines often lack the flexibility to handle multiple variant types, struggle with speed and reproducibility across computational environments, demand extensive manual configuration, or require bioinformatics expertise for downstream curation and analysis, limiting their scalability and usability for large genomic studies. Accordingly, there is a pressing need to better address these challenges. RESULTS: We introduce TriosCompass, an open-source Snakemake workflow that addresses these challenges by providing a modular, accelerated, and environmentally-configurable end-to-end solution for comprehensive de novo variant discovery. It integrates state-of-the-art tools into a reproducible framework, empowering researchers to discover novel genetic insights with greater efficiency and reliability. AVAILABILITY: TriosCompass is implemented as a Snakemake workflow and is freely available at https://github.com/NCI-CGR/TriosCompass_v2 or on Zenodo (10.5281/zenodo.17981062). SUPPLEMENTARY INFORMATION: Supplementary data is available on GitHub at https://github.com/NCI-CGR/TriosCompass_v2/tree/manuscript/report_dashboards. Supplementary methods on DeepTrio benchmark runs can be viewed at: https://github.com/NCI-CGR/TriosCompass_v2/blob/manuscript/TriosCompass_Supp_Methods_deeptrio_benchmark.md.

Software↗

Gn allotypes in mother-father-cord trios. A selective transfer of autologous, fetal IgG to the mother.

When tested at a standard dilution (1:30), mother-cord Gm phenotypes are identical. A more sensitive assay reveals that the fetus does possess paternal antigen, that is, does produce small amounts of autologous IgG. The paternal antigens, in both the mother and the cord plasma, appear in a mosaic, one that suggests the fetus has the ability to selectively transfer his own IgG subclasses to the mother.

Antigens↗

The female athlete triad: a terrible trio implications for primary care.

PURPOSE: To describe the components of the female athlete triad, including definitions and clinical criteria for diagnosis, methods of screening, and treatment options. DATA SOURCES: Selected scientific literature; standard diagnostic guidelines. CONCLUSIONS: The female athlete triad is a cascading event consisting of disordered eating, amenorrhea, and osteoporosis. This disorder can occur in any sport but is seen most often in events that emphasize thinness and appearance such as gymnastics, ballet, and diving. It can often go unrecognized and result in irreversible bone loss and possible death. IMPLICATIONS FOR PRACTICE: Primary care nurse practitioners (NPs) may be the first health care professionals encountering these females; they need to recognize the risk factors and institute a multidisciplinary approach to treatment. The treatment team should be composed of the patient, the NP, a dietitian, a psychologist, psychiatrist, or psychiatric nurse specialist, and the patient's family, coaches, and trainers.

Amenorrhea↗

Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios.

Even though human and chimpanzee gene sequences are nearly 99% identical, sequence comparisons can nevertheless be highly informative in identifying biologically important changes that have occurred since our ancestral lineages diverged. We analyzed alignments of 7645 chimpanzee gene sequences to their human and mouse orthologs. These three-species sequence alignments allowed us to identify genes undergoing natural selection along the human and chimp lineage by fitting models that include parameters specifying rates of synonymous and nonsynonymous nucleotide substitution. This evolutionary approach revealed an informative set of genes with significantly different patterns of substitution on the human lineage compared with the chimpanzee and mouse lineages. Partitions of genes into inferred biological classes identified accelerated evolution in several functional classes, including olfaction and nuclear transport. In addition to suggesting adaptive physiological differences between chimps and humans, human-accelerated genes are significantly more likely to underlie major known Mendelian disorders.

Active Transport, Cell Nucleus↗