BackgroundTo understand the contribution of Mendelian mutations to the burden of undiagnosed diseases that are suspected to be genetic in origin, we developed a next-generation sequencing-based multiplexing assay that encompasses the ~3000 known Mendelian genes. This assay, which we term the Mendeliome, comprises 13 gene panels based on clinical themes, covering the spectrum of pediatric and adult clinical genetic medicine. We explore how these panels compare with clinical whole exome sequencing (WES).ResultsWe tested 2357 patients referred with suspected genetic diagnoses from virtually every medical specialty. A likely causal mutation was identified in 1018 patients, with an overall clinical sensitivity of 43 %, comparing favorably with WES. Furthermore, the cost of clinical-grade WES is high (typically more than 4500 US dollars), whereas the cost of running a sample on one of our panels is around 75–150 US dollars, depending on the panel. Of the “negative” cases, 11 % were subsequently found by WES to harbor a likely causal mutation in a known disease gene (largely in genes identified after the design of our assay), as inferred from a representative sample of 178. Although our study population is enriched for consanguinity, 245 (24 %) of solved cases were autosomal dominant and 35 (4 %) were X-linked, suggesting that our assay is also applicable to outbred populations.ConclusionsDespite missing a significant number of cases, the current version of the Mendeliome assay can account for a large proportion of suspected genetic disorders, and provides significant practical advantages over clinical WES.Electronic supplementary materialThe online version of this article (doi:10.1186/s13059-015-0693-2) contains supplementary material, which is available to authorized users.

The targeted NGS PID gene panel is a sensitive and cost-effective diagnostic tool that can be used as a first-line molecular assay in patients with PIDs. The assay is an alternative choice to the complex and costly candidate gene approach, particularly for patients with atypical presentation of known PID genes.

AIMTo summarize the reported Middle East respiratory syndrome-coronavirus (MERS-CoV) cases, the associated clinical presentations and the outcomes.METHODSWe searched the Saudi Ministry of Health website, the World Health Organization website, and the Flutracker website. We also searched MEDLINE and PubMed for the keywords: Middle East respiratory syndrome-coronavirus, MERS-CoV in combination with pediatric, children, childhood, infancy and pregnancy from the initial discovery of the virus in 2012 to 2016. The retrieved articles were also read to further find other articles. Relevant data were placed into an excel sheet and analyzed accordingly. Descriptive analytic statistics were used in the final analysis as deemed necessary.RESULTSFrom June 2012 to April 19, 2016, there were a total of 31 pediatric MERS-CoV cases. Of these cases 13 (42%) were asymptomatic and the male to female ratio was 1.7:1. The mean age of patients was 9.8 ± 5.4 years. Twenty-five (80.6%) of the cases were reported from the Kingdom of Saudi Arabia. The most common source of infection was household contact (10 of 15 with reported source) and 5 patients acquired infection within a health care facility. Using real time reverse transcriptase polymerase chain reaction of pediatric patients revealed that 9 out of 552 (1.6%) was positive in the Kingdom of Saudi Arabia.CONCLUSIONUtilizing serology for MERS-CoV infection in Jordan and Saudi Arabia did not reveal any positive patients. Thus, the number of the pediatric MERS-CoV is low; the exact reason for the low prevalence of the disease in children is not known.

Objectives The purpose of our study was to assess COVID-19 vaccine acceptance among health care workers (HCW) in the Kingdom of Saudi Arabia (KSA), and identify: 1) vaccine acceptance barriers; 2) demographic differences; and 3) the most trusted COVID-19 sources of information. Methods Between October and December 2020, all registered HCW in the KSA were emailed a survey questionnaire, using Qualtrics® and Google Forms®, evaluating the acceptance of a COVID-19 vaccine. Results Of the 23,582 participants surveyed, 15,299 (64.9%) said they would accept a COVID-19 vaccine. Vaccine acceptance among HCW differed by several demographic characteristics with males (69.7%), Christians (71.9%), and Pakistanis (81.6%) were most likely to accept a COVID-19 vaccine. Of the 8,202 (35.1%) who said they would not accept a COVID-19 vaccine, the main reason reported was fear of potential side effects (58.5%). Participants reported health officials (84.6%) as the most reliable source of COVID-19 information. Additionally, participants reported the highest confidence in the KSA Ministry of Health (88.5%). Conclusions Overall, these findings provide KSA health care authorities with the information needed to develop public health messaging campaigns for HCW to best address COVID-19 vaccine concerns—especially as the country prepares to vaccinate its general population.

A retrospective cohort study was conducted among hospitalized children less than 12 years of age who had Acinetobacter spp. isolated from ≥1 cultures between October 2001 and December 2007 at King Abdulaziz Medical City in Riyadh, Saudi Arabia. Children with multidrug-resistant (MDR) Acinetobacter spp. healthcare-associated infections (HAIs) were compared to children with antimicrobial-susceptible Acinetobacter spp. HAIs and to children colonized with Acinetobacter. Children with MDR Acinetobacter spp. HAIs were older (p = 0.01), more likely to be admitted to an intensive care unit (ICU) (p = 0.06), and had a higher mortality rate (p = 0.02) than colonized children. Children with MDR Acinetobacter spp. HAIs were older than children with antimicrobial-susceptible Acinetobacter spp. HAIs (p = 0.0004), but their mortality rates were similar. Among children with MDR Acinetobacter spp. HAIs, burn injuries were the most common underlying illness. HAIs caused by MDR or susceptible Acinetobacter spp. occurred after prolonged hospitalization, suggesting nosocomial acquisition. Patients infected with MDR Acinetobacter spp. frequently received inappropriate empiric therapy (73.9 %). Further studies are needed in order to identify effective strategies to prevent nosocomial transmission and effective ways of improving patient outcomes.