The Role of Genetic Testing in Pediatric Renal Diseases: Diagnostic, Prognostic, and Social Implications.

Pediatric renal diseases vary widely and are linked to high morbidity and mortality; hence, early diagnosis is vital. Presently, genetic testing is being incorporated into the standard of care for children and their families with kidney disease, primarily as a diagnostic tool. In the present review, we aim to collect all potential evidence from relevant studies that reported the role of genetic testing in pediatric renal disease diagnostic, prognostic, and social implications. We have conducted both electronic and manual searches within PubMed, the Cochrane Library, Web of Science, and Scopus to find relevant studies. Studies from the years 2013-2023 were included. Case reports with limited sample sizes and no descriptive statistics, along with review papers and meta-analyses, were excluded from this review. Quality assessment for all included studies was performed. The pooled diagnostic yields were calculated using the common effect and random effect models utilizing the R program (R Foundation for Statistical Computing, Vienna, Austria). The pooled result for the diagnostic yield as per the common effect model is a pooled proportion of 0.42 (42%) 95% confidence interval (CI): [0.39,0.44], while with the random effects model the pooled proportion is 0.43 (43%) 95% CI: [0.31,0.57]. The diagnostic yield for the included studies ranged from 78.10% to 16.8%. The spectrum of kidney diseases included nephrolithiasis/nephrocalcinosis, glomerular diseases, cystic kidney disease, ciliopathies, tubulopathies, chronic kidney disease, and congenital anomalies of the kidneys and urinary tracts (CAKUT), while hematuria and proteinuria were reported by two studies and autosomal recessive and autosomal dominant idiopathic kidney disease was reported by only one study. Genetic testing validates clinical diagnosis and aids in tailoring management strategies; hence, a more precise treatment plan is developed and unnecessary investigations are avoided, which is crucial in the case of children during routine nephrology clinic visits. Genetic counselling is of the utmost importance, so all ethical and social concerns related to genetic testing are addressed in addition to patient satisfaction.

Coronavirus disease 2019 pandemic stress and its effects on irritable bowel syndrome patients in Saudi Arabia.

ABSTRACT: Coronavirus disease 2019 (COVID-19 pandemic has affected the psychological health of people, causing a higher level of stress. Stress can exaggerate the symptoms of irritable bowel syndrome (IBS).To assess the effect of the COVID-19 pandemic stress on patients with IBS in Saudi Arabia.A descriptive cross-sectional approach was used, which targeted accessible subjects with IBS from different regions of Saudi Arabia. Data were collected from participants using a structured electronic questionnaire, which captured the participants' socio-demographic data, medical history, IBS clinical data, self-reported stress due to COVID-19, and its effect on IBS symptoms.A total of 1255 IBS patients completed the questionnaire. About 63.4% of them reported stress due to the pandemic. The most frequently reported causes of stress were fear of infection occurring in the family, followed by fear of self-infection (43.5%), and death due to COVID-19 infection (17.2%). Most of the stressed participants (56.6%) reported that stress usually exaggerated IBS symptoms. Almost 22% of them consulted a physician for stress aggravation of the symptoms, 18.1% used sedatives due to stress, 9.2% modified IBS medications due to the stress, and 75.5% of the participants reported impaired daily activities due to symptoms exacerbation. Coexisting chronic morbidities and inability to differentiate between COVID-19 gastrointestinal symptoms and IBS symptoms were significantly associated with COVID-19 related stress (P = .039 and .001, respectively).Two-thirds of IBS patients were stressed during the first few months of COVID-19 pandemic. Patients unable to differentiate between COVID-19 gastrointestinal tract symptoms and IBS symptoms, and patients suffering from chronic morbidities were more vulnerable. Pandemic stress exacerbated patients' symptoms and impacted their activities of daily life.

Healthcare workers' perspectives on healthcare-associated infections and infection control practices: a video-reflexive ethnography study in the Asir region of Saudi Arabia.

BACKGROUND: Healthcare-associated infections (HAIs) are a global public health problem. For the fulfillment of Saudi Arabia's Vision 2030, the promotion of preventive care medicine through HAI management is a crucial issue. This study explores the perspectives of Saudi tertiary healthcare workers (HCWs) on HAIs and infection control measures. METHODS: Quantitative data were assessed to determine HCWs' knowledge of HAI and their attitudes towards and practice of infection control measures. Semi-structured interviews were used to collect qualitative data from 40 doctors and nurses. The interviews were audio-recorded and transcribed verbatim. Further, routine sterile procedures in the wards and intensive care units were video recorded, and the footage was discussed by the infection control team and the personnel involved in the videos. This discussion was videographed and transcribed. Both interview data and reflective discussion of the video were analysed using thematic analysis. The quantitative data were analysed using the Kruskal-Wallis test and logistic regression analysis. RESULTS: Kruskal-Wallis test revealed no difference in mean knowledge, attitude, or practice scores between nurses/ doctors or the genders. There was a significant difference in knowledge score and practice scores between the Intensive care unit & the Paediatric ward /infection control department with the maximum scores in knowledge and practice among participants from the intensive care unit. Logistic regression analysis for dependent variables (knowledge and attitude) and independent variables like age, gender, designation, and departments was not significant. The qualitative data yielded four themes: knowledge of HAI and infection control, infection control measures in practice, a shortfall in infection control measures and HAI, and required implementation. Video-reflexive ethnography (VRE) revealed lapses in handwashing practice and proper usage of personal protective equipment (PPE), especially surgical masks. CONCLUSION: Early introduction of training programmes in medical and nursing schools and video demonstrations of appropriate infection control practices during sterile procedures would be highly beneficial to HCWs. A possible reason for the outbreak of Middle East Respiratory Syndrome coronavirus in this part of Saudi Arabia could be a lapse in PPE usage. Intensive training programs for all the HCWs, strict vigilant protocols, and a willingness to change behaviour and practice, will significantly benefit the spread of outbreaks.