Over the past few years, substantial effort has been put into the functional annotation of variation in human genome sequence. Indeed, for any genetic variant, whether protein coding or noncoding, a diverse set of functional annotations is available from projects such as Ensembl, ENCODE and Roadmap Epigenomics. Such annotations can play a critical role in identifying putatively causal variants ...

conclusions our findings revealed that aerobic exercise increases self-esteem. an improvement in educational, family, social, and general self-esteem scores was seen only in the experimental group. results the results showed that although the self-esteem average score was not significant before the intervention, it increased significantly in the experimental group. in the experimental group, th...

OBJECTIVES Quantitative risk assessment in unstable angina (UA) and non-ST-elevation myocardial infarction (NSTEMI), by using cardiac risk scores, is recommended in international guidelines. However, a gap between recommended care and actual practice exists, as these instruments seem underused in practice. The present study aimed to determine the extent of cardiac risk score use and to study fa...

BACKGROUND Variation in the genomes of single-stranded RNA viruses affects their infectivity and pathogenicity in two ways. First, viral genome sequence variations lead to changes in viral protein sequences and activities. Second, viral genome sequence variation produces diversity at the level of nucleotide composition and diversity in the interactions between viral RNAs and host toll-like rece...

The aim of the present study was to observe the changes in hand flexibility of patients with Parkinson's disease (PD) and the effect of dual-task interference. Patients with PD were distributed into two subgroups: the leucine-rich repeat kinase 2 (LRRK2) mutation PD (LRRK2+) and the LRRK2 mutation-free (LRRK2-) PD groups. The healthy controls were distributed into two subgroups: the LRRK2+ cont...

BACKGROUND The objective of this research was to profile and compare state-level physical restraint use, urethral catheterization, contractures, pressure ulcers, and psychoactive medication use as indicators of quality of care in nursing facilities. METHODS Using nationally representative data from the Online Survey, Certification, and Reporting system for 2000 (N = 17,072), we calculated pre...

To assess the outcome of orthodontic treatment, 224 cases treated in a postgraduate clinic were evaluated. Pre-treatment (T1), post-treatment (T2) and 5-year follow-up (T3) study casts were assessed by the Peer Assessment Rating (PAR) Index. The influence of various factors upon treatment and long-term outcome was analysed. According to the PAR Index, orthodontic treatment reduced the malocclus...

As next-generation sequencing projects generate massive genome-wide sequence variation data, bioinformatics tools are being developed to provide computational predictions on the functional effects of sequence variations and narrow down the search of casual variants for disease phenotypes. Different classes of sequence variations at the nucleotide level are involved in human diseases, including ...

This article introduces the Variome Annotation Schema, a schema that aims to capture the core concepts and relations relevant to cataloguing and interpreting human genetic variation and its relationship to disease, as described in the published literature. The schema was inspired by the needs of the database curators of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT)...

INTRODUCTION The objective of this study was to determine factors, other than the Diagnostic Related Grouping (DRG), that can explain the variation in the cost of hospitalisation and length of hospital stay (LOS) in older patients. MATERIALS AND METHODS This was a prospective, observational cohort study involving 397 patients, aged 65 years and above. Data collected include demographic inform...