Activity

In 18 genes, we identified 36 compound heterozygous variants, whereas in the other 18 genes we identified 18 de novo variants. Twelve of 36 candidate risk genes are known to play a role in transmembrane transport, adaptive and innate immunity, and epithelial barrier function.

The 36 candidate genes for early-onset PSC need further verification in other patient cohorts and evaluation of gene function before a causal role can be attributed to its variants.

The 36 candidate genes for early-onset PSC need further verification in other patient cohorts and evaluation of gene function before a causal role can be attributed to its variants.

Children and adolescents with intellectual disabilities (ID) participate in low levels of physical activity. To inform the development of interventions, we need to better understand factors associated with physical activity. The aim of this study was therefore to systematically review correlates of physical activity in children and adolescents with ID.

The review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Ovid MEDLINE, Ovid Embase, Web of Science, ERIC, CINAHL and PsycINFO were searched between 1 January 1990 and 29 February 2020 to identify English-language studies, which examined correlates of free-living physical activity in children and adolescents (0-19years) with ID. Study quality was assessed. Correlates were analysed using a narrative synthesis and classified using the socioecological model as intrapersonal, interpersonal, organisational or environmental.

Fifteen studies published between 2010 and 2019 met the inclusion cri ID. Only when future studies unravel correlates and determinants, across all domains of the socioecological model, will the potential opportunities to improve health by increasing physical activity levels be achievable.Iodide-mediated surface etching can tailor the surface plasmon resonance of gold nanostars through etching of the high-energy facets of the nanoparticle protrusions in a rapid and sensitive way. By exploring the underlying mechanisms of this etching and the key parameters influencing it (such as iodide, oxygen, pH, and temperature), we show its potential in a sensitive biosensing system. Horseradish peroxidase-catalyzed oxidation of iodide enables control of the etching of gold nanostars to spherical gold nanoparticles, where the resulting spectral shift in the surface plasmon resonance yields a distinct color change of the solution. We further develop this enzyme-modulated surface etching of gold nanostars into a versatile platform for plasmonic immunoassays, where a high sensitivity is possible by signal amplification via magnetic beads and click chemistry.Most U-rich small nuclear ribonucleoproteins (snRNPs) are complexes that mediate the splicing of pre-mRNAs. selleck inhibitor U7 snRNP is an exception in that it is not involved in splicing but is a key factor in the unique 3′ end processing of replication-dependent histone mRNAs. However, by introducing controlled changes in the U7 snRNA histone binding sequence and in the Sm motif, it can be used as an effective tool for gene therapy. The modified U7 snRNP (U7 Sm OPT) is thus not involved in the processing of replication-dependent histone pre-mRNA but targets splicing by inducing efficient skipping or inclusion of selected exons. U7 Sm OPT is of therapeutic importance in diseases that are an outcome of splicing defects, such as myotonic dystrophy, Duchenne muscular dystrophy, amyotrophic lateral sclerosis, β-thalassemia, HIV-1 infection and spinal muscular atrophy. The benefits of using U7 Sm OPT for gene therapy are its compact size, ability to accumulate in the nucleus without causing any toxic effects in the cells, and no immunoreactivity. The risk of transgene misregulation by using U7 Sm OPT is also low because it is involved in correcting the expression of an endogenous gene controlled by its own regulatory elements. Altogether, using U7 Sm OPT as a tool in gene therapy can ensure lifelong treatment, whereas an oligonucleotide or other drug/compound would require repeated administration. It would thus be strategic to harness these unique properties of U7 snRNP and deploy it as a tool in gene therapy.

To investigate the clinical factors and factors that affect the decisions regarding storage of cryopreserved embryos obtained using assisted reproductive technology.

Clinical characteristics affecting the decisions regarding cryopreserved embryos were analyzed in 5724 Japanese couples who underwent in vitro fertilization (IVF) or intra-cytoplasmic sperm insemination (ICSI) and embryo transfer over 4 years since April 2015 at our clinic. Statistical analysis was carried out using JMP software.

The number of oocytes retrievals and embryos stored, outcomes and number of children, and age of the female patients and male partners were related to the decision-making regarding cryopreserved embryos. Childbearing and no wish for another child were the major reasons for discontinuing embryo storage. The number of oocytes retrievals and embryos in storage, age of the female patients, and sex of the child were independently associated with this decision-making in 2682 patients with a single child. Women with male children were more likely to choose discontinuation of embryo storage than those with female children.

Already having a child and not wishing for further treatment due to age along with the presence of a male child affect the decision to continue or discontinue embryo storage in Japanese patients with infertility.

Already having a child and not wishing for further treatment due to age along with the presence of a male child affect the decision to continue or discontinue embryo storage in Japanese patients with infertility.

This study aimed to identify and compare missed nursing care types and reasons between South Korea and the United States of America.

Patient safety has become a significant task of the healthcare delivery systems worldwide. The omission of nursing care constitutes a growing concern because it threatens both patient safety and nursing care quality.

This study used a cross-sectional, descriptive and comparative design.

Data were collected from registered nurses working in two university-affiliated tertiary hospitals and a general hospital in Korea and a Midwest United States tertiary hospital. In addition, the STROBE checklist was used in this study.

While substantial, the level of missed nursing care reported by Korean nurses was lower than that of United States nurses. Only three nursing care activities, setting up meals, patient assessment and skin/wound care, did not significantly differed between two countries. More basic nursing care types such as ambulation, feeding and mouth care were missed more than others in both countries.