Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants

Bardet-Biedl syndrome (BBS), is an emblematic ciliopathy hallmarked by pleiotropy, phenotype variability, and extensive genetic heterogeneity. BBS is a rare (~1/140,000 to ~1/160,000 in Europe) autosomal recessive pediatric disorder characterized by retinal degeneration, truncal obesity, polydactyly, cognitive impairment, renal dysfunction, and hypogonadism. Twenty-eight genes involved in ciliary structure or function have been implicated in BBS, and explain the molecular basis for ~75%–80% of individuals. To investigate the mutational spectrum of BBS in Romania, we ascertained a cohort of 24 individuals in 23 families. Following informed consent, we performed proband exome sequencing (ES). We detected 17 different putative disease-causing single nucleotide variants or small insertion–deletions and two pathogenic exon disruptive copy number variants in known BBS genes in 17 pedigrees. The most frequently impacted genes were BBS12 (35%), followed by BBS4, BBS7, and BBS10 (9% each) and BBS1, BBS2, and BBS5 (4% each). Homozygous BBS12 p.Arg355* variants were present in seven pedigrees of both Eastern European and Romani origin. Our data show that although the diagnostic rate of BBS in Romania is likely consistent with other worldwide cohorts (74%), we observed a unique distribution of causal BBS genes, including overrepresentation of BBS12 due to a recurrent nonsense variant, that has implications for regional diagnostics.     

An Emergency Medical Communications System by Low Altitude Platform at the Early Stages of a Natural Disaster in Indonesia

A natural disaster is a consequence of a natural hazard, such as a tsunami, earthquake or volcanic eruption, affecting humans. In order to support emergency medical communication services in natural disaster areas where the telecommunications facility has been seriously damaged, an ad hoc communication network backbone should be build to support emergency medical services. Combinations of requirements need to be considered before deciding on the best option. In the present study we have proposed a Low Altitude Platform consisting of tethered balloons combined with Wireless Fidelity (WiFi) 802.11 technology. To confirm that the suggested network would satisfy the emergency medical service requirements, a communications experiment, including performance service measurement, was carried out.     

Reliability of a 3D surface laser scanner for orthodontic applications.

A device for recreating three-dimensional (3D) objects on a computer is the surface laser scanner. By triangulating distances between the reflecting laser beam and the scanned surface, the surface laser scanner can detect not only an object's length and width but also its depth. The scanner's ease of use has opened various possibilities in laboratory research and clinical investigation. We assessed the reliability of generating 3D object reconstructions using the Minolta Vivid700 3D surface laser scanner (Minolta USA, Ramsey, NJ). Accuracy and reproducibility were tested on a geometrical calibrated cylinder, a dental study model, and a plaster facial model. Tests were conducted at varying distances between the object and the scanner. It was found that (1) in the calibrated cylinder tests, spatial distance measurement was accurate to 0.5 mm (+/- 0.1 mm) in the vertical dimension and 0.3 mm (+/- 0.3 mm) in the horizontal dimension; (2) in the study model test, molar width was accurate to 0.2 mm (+/- 0.1 mm, P >.05), and palatal vault depth could be measured to 0.7 mm (+/- 0.2 mm, P > 0.05); and (3) for the facial model, an accuracy of 1.9 +/- 0.8 mm was obtained. The findings suggest that the surface laser scanner has great research potential because of its accuracy and ease of use. Treatment changes, growth, surgical simulations, and many other orthodontic applications can be approached 3-dimensionally with this device.     

The effect of a community-based spiritual life review program on Indonesian elders’ resilience

Objective

This quasi-experimental, pre-/post-test study aimed to examine the effect of a community-based spiritual life review program on the resilience of elders residing in a disaster-prone area.

A Comparison of Erectile Dysfunction Improvement Between Patients With Regular Hemodialysis and Patients With Continuous Ambulatory Peritoneal Dialysis

BackgroundErectile dysfunction (ED) is one of the sexual dysfunctions that are often encountered as a complication of male patients with stage 5 chronic kidney disease (stage 5 CKD). ED can be caused by psychological factors in patients with regular dialysis therapy. Currently, Hemodialysis (HD) therapy is the first choice in dialysis therapy and only 2% of stage 5 CKD patients are using Continuous Ambulatory Peritoneal Dialysis (CAPD) as a dialysis therapy. ED in stage 5 CKD patients should become a part of the treatment of patients with dialysis, which hopefully will improve the quality of life of patients. This study aims to compare the improvement in ED degree in patients with HD and CAPD.MethodThis study is an observational analytic comparative study involving 44 male patients with stage 5 CKD; 22 of whom underwent HD and the remaining 22 patients underwent CAPD. The differences evaluated were changes in the ED degree before and after dialysis, which were assessed using the International Index of Erectile Function-5 (IIEF-5).ResultThere were significant differences in the improvement in ED degree and IIEF-5 scores in CAPD group. In the HD group, no significant difference was obtained in the improvement in ED degree and IIEF-5 score. A significant difference was obtained in the improvement in ED degree between the HD and CAPD groups by comparing the improvement in IIEF-5 score.ConclusionPatients with CAPD have a better improvement in ED degree than patients with HD. Duarsa GWK, Kandarini Y, Winarta GK, et al. A Comparison of Erectile Dysfunction Improvement Between Patients With Regular Hemodialysis and Patients With Continuous Ambulatory Peritoneal Dialysis. J Sex Med Rev 2021;18:920–925.     

Factors affecting provision of oral health care for people with special health care needs: A systematic review

BackgroundSpecial health care needs (SHCNs) individuals experience higher levels of dental problems including accessing oral health (OH) facilities. Improving standard of OH care in SHCNs requires identifying barriers and enablers. The aim of this study was to perform a systematic review of prior researches to identify OH care barriers and enablers for SHCN individuals.MethodsElectronic searching was conducted systematically in PubMed and Cochrane databases. The PICOS parameters were formulated for the inclusion of studies, and the PRISMA method was used to select the articles. Two reviewers independently screened the articles for eligibility and to minimise the risk of bias in the studies and also searched the contents of key articles, quality of methodology, outcomes and reference lists of all the studies included.ResultsA total of 1316 (PubMed 956, Cochrane 360) studies were found initially and after title and abstract screening and also removal of duplication, reviewers selected 53 papers from PubMED and 19 articles from Cochrane to go through full articles and led to the final confirmation of 21 studies. Common challenges included lack of OH knowledge and awareness, difficulty in accessing treatment, transportation problem, treatment cost, and lack of inter-professional collaboration for specialized services. Potential solutions included OHE training and services for patients and caregivers, easy access to dental services, specialized dental practitioners and use of a combination of expertise to meet the demands of SHCN individuals.ConclusionThis brief analysis will establish dental obstacles to the provision of information to policymakers for SHCN population at organizational, individuals and policy levels. It will help in effective planning for providing and improving OH care quality in caregivers.