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Background: Monkeypox virus re-surged in May 2022 as a new potential global health threat, with outbreaks bursting in multiple countries across different continents. This study was conducted in Saudi Arabia during the first month following the WHO announcement of the Monkeypox outbreak, to assess healthcare workers (HCWs) perceptions of, worries concerning, and vaccine acceptance for, Monkeypox, in light of the resolving COVID-19 pandemic. Methods: A national cross-sectional survey was conducted between 27 May and 10 June 2022, in Saudi Arabia. Data were collected on: HCWs' sociodemographic and job-related characteristics; COVID-19 infection status; and worries concerning Monkeypox, compared to COVID-19 and its sources; as well as their perceptions and awareness of, and advocacy for, supporting Monkeypox vaccination. Results: A total of 1130 HCWs completed the survey, of which 41.6% have already developed COVID-19. However, 56.5% were more concerned about COVID-19 compared to Monkeypox, while the rest were more worried about Monkeypox disease. The main cause for concern among 68.8% of the participants was the development of another worldwide pandemic, post-COVID-19, followed by their concern of either themselves or their families contracting the infection (49.6%). Most HCWs (60%) rated their level of self-awareness of Monkeypox disease as moderate to high. Males, and those who had previously developed COVID-19, were significantly less likely to worry about Monkeypox. The worry about Monkeypox developing into a pandemic, and the perception of Monkeypox being a severe disease, correlated significantly positively with the odds of high worry concerning the disease. The major predictors of participants' advocacy for vaccination against Monkeypox disease were: those who had developed COVID-19 previously; and those who supported tighter infection control measures (than those currently used) to combat the disease. A total of 74.2% of the surveyed HCWs perceived that they needed to read more about Monkeypox disease. Conclusions: Approximately half of the HCWs in this study were more concerned about Monkeypox disease than COVID-19, particularly regarding its possible progression into a new pandemic, during the first month following the WHO's Monkeypox international alert. In addition, the majority of participants were in favor of applying tighter infection prevention measures to combat the disease. The current study highlights areas requiring attention for healthcare administrators regarding HCWs' perceptions and preparedness for Monkeypox, especially in the event of a local or international pandemic. [ABSTRACT FROM AUTHOR]

Kidney transplantation is the most effective treatment for pediatric kidney failure. The ideal age and weight for very young children, especially infants and toddlers, is a topic of debate among specialists. Early kidney transplantation offers benefits such as improved growth, cognitive development, psychosocial outcomes, and overall quality of life. It also reduces the need for prolonged dialysis and associated complications. However, there are challenges such as limited donor availability and surgical complexity. A recent study found that kidney transplantation in children under the age of two is associated with enhanced patient survival and reduced exposure to dialysis compared to waiting until the age of two or older. However, the study has limitations, including a restricted follow-up duration and potential selection bias. Overall, early kidney transplantation shows promise but further research is needed to refine selection criteria and improve post-transplant care. [Extracted from the article]

Background: Molecular autopsy refers to DNA-based identification of the cause of death. Despite recent attempts to broaden its scope, the term remains typically reserved to sudden unexplained death in young adults. In this study, we aim to showcase the utility of molecular autopsy in defining lethal variants in humans. Methods: We describe our experience with a cohort of 481 cases in whom the cause of premature death was investigated using DNA from the index or relatives (molecular autopsy by proxy). Molecular autopsy tool was typically exome sequencing although some were investigated using targeted approaches in the earlier stages of the study; these include positional mapping, targeted gene sequencing, chromosomal microarray, and gene panels. Results: The study includes 449 cases from consanguineous families and 141 lacked family history (simplex). The age range was embryos to 18 years. A likely causal variant (pathogenic/likely pathogenic) was identified in 63.8% (307/481), a much higher yield compared to the general diagnostic yield (43%) from the same population. The predominance of recessive lethal alleles allowed us to implement molecular autopsy by proxy in 55 couples, and the yield was similarly high (63.6%). We also note the occurrence of biallelic lethal forms of typically non-lethal dominant disorders, sometimes representing a novel bona fide biallelic recessive disease trait. Forty-six disease genes with no OMIM phenotype were identified in the course of this study. The presented data support the candidacy of two other previously reported novel disease genes (FAAH2 and MSN). The focus on lethal phenotypes revealed many examples of interesting phenotypic expansion as well as remarkable variability in clinical presentation. Furthermore, important insights into population genetics and variant interpretation are highlighted based on the results. Conclusions: Molecular autopsy, broadly defined, proved to be a helpful clinical approach that provides unique insights into lethal variants and the clinical annotation of the human genome. [ABSTRACT FROM AUTHOR]

Background: Nephrotic syndrome is the most common kidney disease in children worldwide. Our aim was to critically appraise the quality of recent Clinical Practice Guidelines (CPGs) for idiopathic steroid-sensitive nephrotic syndrome (SSNS) in children in addition to summarize and compare their recommendations. Methods: Systematic review of CPGs. We identified clinical questions and eligibility criteria and searched and screened for CPGs using bibliographic and CPG databases. Each included CPG was assessed by four independent appraisers using the Appraisal of Guidelines for REsearch & Evaluation II (AGREE-II) instrument. We summarized the recommendations in a comparison practical table. Results: Our search retrieved 282 citations, of which three CPGs were eligible and appraised: Kidney Disease: Improving Global Outcomes (KDIGO) 2012, Japan Society for Pediatric Nephrology (JSPN) 2014, and American Academy of Pediatrics (AAP) 2009. Among these, the overall assessment of two evidence-based CPGs scored > 70% (KDIGO and JSPN), which was consistent with their higher scores in the six domains of the AGREE II Instrument. In domain 3 (rigor of development), KDIGO, JSPN, and AAP scored 84%, 74%, and 41%, respectively. In domain 5 (applicability), they scored 22%, 16%, and 19%, respectively, and in domain 6 (editorial independence), they scored 94%, 65%, and 88%, respectively. Conclusions: The methodological quality of the KDIGO CPG was superior, followed by JSPN and AAP CPGs with the relevant recommendations for use in practice. Systematic review registration: The protocol was registered in the Center for Open Science (OSF) DOI: 10.17605/OSF.IO/6QTMD and in the International prospective register of systematic reviews PROSPERO 2020 CRD42020197511. [ABSTRACT FROM AUTHOR]

Background: Congenital and infantile nephrotic syndrome (CNS and INS) are rare inherited defects in glomerular filtration involving a variety of gene mutations. This study aimed to analyze all genetic mutations associated with congenital and infantile nephrotic syndrome treated at our institution. We also discussed our different approach secondary to culture and resources. Methods: A retrospective single-center study of all children diagnosed as NS before the age of 1 year over a duration of over one decade. Results: Twenty-nine children (12 boys) were included in the study. Their median age (range) was 2.4 (0.1–12) months (20 CNS and 9 INS). Consanguinity was present in 90% of children. The genetic analysis' results were only available for 20 children. An underlying causative homozygous mutation was detected in 18 children (90%): NPHS1 (9), NPHS2(2), LAMB2(3), PLCE1(1), WT1(1), and ITSN1 novel mutation (2). One child had heterozygous mutation of NPHS2 and another child had heterozygous mutation of NPHS1 which could not explain the disease. All CNS cases were all managed with intermittent intravenous albumin infusion, ACEi, diuretics, and indomethacin. None of the children were managed by nephrectomy followed by peritoneal dialysis (PD) because of limited resources. Only one child achieved partial remission, while 15 children died at a median (range) age of 5.8 (1.25–29) months. The remaining 14 children were followed up for an average of 36 (3.9–120) months. Three children progressed to end-stage kidney disease and PD was performed in only two children. Conclusions: NPHS1 is the main underlying cause of CNS and INS in our study population. CNS and INS were associated with high morbidity and mortality. [ABSTRACT FROM AUTHOR]

Objective: Interleukin 13 (IL-13) plays a critical pro-inflammatory role in asthma. Several single nucleotide polymorphisms (SNPs) are associated with asthma susceptibility in specific populations; however, further replicative studies in other ethnic groups are mandatory. Methods: The association between IL-13 SNPs rs762534, rs20541, rs1295686, and rs1800925 (risk alleles A, A, T, and A, respectively) and asthma predisposition in a Saudi Arabian cohort was examined via a case-control cross-sectional study. Results: The frequencies of alleles between asthmatics and control populations were significantly different for rs20541 and rs1295686 SNPs (p < 0.001), whereas the frequencies of genotypes between asthmatics and controls were significantly different only for rs20541. The association of the risk (minor) alleles with asthma was examined using the dominant genetic model. Individuals with at least one copy of the risk alleles A (for rs20541) and T (for rs1295686) had significantly greater odds of being asthmatic (OR = 2.13, 95% CI = 1.39-3.26, p < 0.0001; OR = 1.69, 95% CI = 1.12-2.54, p = 0.008) relative to their most common homozygous genotypes. On the other hand, the minor A alleles for rs762534 and rs1800925 were not significantly associated with asthma risk. Regarding haplotype association analysis, individuals with at least one copy of the minor "risk" allele for both rs20541 and rs1295686 (CATG and CATA, respectively) had greater odds of being asthmatic relative to CGCG haplotype; however, this trend was not statistically significant (p > 0.3). Conclusions: IL-13 minor T and A alleles for rs1295686 and rs20541, respectively, were associated with significantly higher risk of asthma in the Saudi Arabian population. [ABSTRACT FROM AUTHOR]