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Purpose We sought to describe a disorder clinically mimicking cystic fibrosis (CF) and to elucidate its genetic cause. Methods Exome/genome sequencing and human phenotype ontology data of nearly 40 000 patients from our Bio/Databank were analysed. RNA sequencing of samples from the nasal mucosa from patients, carriers and controls followed by transcriptome analysis was performed. Results We identified 13 patients from 9 families with a CF-like phenotype consisting of recurrent lower respiratory infections (13/13), failure to thrive (13/13) and chronic diarrhoea (8/13), with high morbidity and mortality. All patients had biallelic variants in AGR2, (1) two splice-site variants, (2) gene deletion and (3) three missense variants. We confirmed aberrant AGR2 transcripts caused by an intronic variant and complete absence of AGR2 transcripts caused by the large gene deletion, resulting in loss of function (LoF). Furthermore, transcriptome analysis identified significant downregulation of components of the mucociliary machinery (intraciliary transport, cilium organisation), as well as upregulation of immune processes. Conclusion We describe a previously unrecognised autosomal recessive disorder caused by AGR2 variants. AGR2-related disease should be considered as a differential diagnosis in patients presenting a CF-like phenotype. This has implications for the molecular diagnosis and management of these patients. AGR2 LoF is likely the disease mechanism, with consequent impairment of the mucociliary defence machinery. Future studies should aim to establish a better understanding of the disease pathophysiology and to identify potential drug targets. [ABSTRACT FROM AUTHOR]

Background: Down syndrome (DS) is by far the most common chromosomal abnormality, manifested clinically with distinctive dysmorphism, functional and anatomical defects compromising multiple body systems with greater impact on respiratory system. Objective: This review aim to review and summarize reported lower respiratory conditions that exceeded the general population prevalence and their clinical outcomes in DS. Methods: The databases were searched for articles published on 2 databases [PubMed and Google scholar] and Boolean operators (and, or, not) had been used such as [Down syndrome, trismomy21, respiratory, pulmonary] and in peerreviewed articles between January 2005 and June 2022. Conclusion: The spectrum of lower respiratory conditions in Down syndrome is wide. Multiple conditions confirmed to be higher in individuals with DS compared to normal population. In this article we reviewed the prevalence and outcomes of lower respiratory infections, recurrent wheezing, airways anomalies, pulmonary artery hypertension (PHN), Morgagni hernia and subpleural cysts. The rarity and the non-specific clinical presentation of some conditions lead to delayed diagnosis and intervention, warranting a need for awareness efforts targeting general practitioners and general pediatricians. [ABSTRACT FROM AUTHOR]

Background: This is the first descriptive and comparative study conducted of COVID-19 inpatients from multi-centers in the four administrative southern regions and proposed Southern Business Unit (Jazan, Najran, Bisha, and Aseer) of the Kingdom of Saudi Arabia (KSA). Methods: Participants were 809 randomly selected patients admitted to the eight sampled hospitals with confirmed COVID-19 between March 2020 and February 2021. We assessed and compared socio-demographics, clinical characteristics, and clinical outcomes of the four regions. Results: Socio-demographic and clinical characteristics of the participants are a mean age of 60 ± 17.7 years, 70% Saudi male, the prevalence of diabetes (DM2) 58%, hypertension (HTN) 48%, obesity 43%, cardiac diseases 15%, and immunity or cancer diseases almost 1%. The prevalence of complications during admission were bacterial pneumonia 65%, acquired respiratory distress syndrome (ARDS) 32%, sepsis 20%, multi-organ failure 18%, acute kidney diseases 15%, and arrhythmia 4%. Clinical outcomes were: admitted to intensive care unit (ICU) 52%, mortality rate 25%, referred to other facilities 9%, and mean length of stay (LOS) was 11± 9.5 days. We observed statistically significant variation in many variables among the four regions. Najran and Aseer had a higher prevalence of risk factors for severity including age and comorbidities accompanied by higher rates of complications, ICU admissions, LOS, and mortality. Bisha and Jazan had lower prevalence of risk factors and LOS with lower rates of complications, ICU admissions, and mortality. Conclusion: This study reveals that the geographic region in which the patient was cared for was related to the severity and outcome of COVID-19 infection. Policy makers should search for solutions to regional differences in underlying health conditions such as DM2, HTN, and obesity to plan for improvements in preventive care as well as resource distribution to ensure quality for all Saudi citizens. This study will serve as guidance to begin to form strategies for these improvements as envisioned in the future New Model of Care. [ABSTRACT FROM AUTHOR]

During the COVID-19 pandemic, conducting face-to-face medical residency interviews was challenging due to infection prevention precautions, social distancing, and travel restrictions. Virtual interviews were implemented by the Saudi Commission for Health Specialties (SCFHS) as an alternative process for residency matching while striving to maintain the same quality standards. This national survey was conducted to assess the satisfaction and perceptions of faculty members' virtual interview performance in the assessment for the medical training residency programs. Among the participating 173 faculty members, 34.1% did not have previous experience with video-conferencing. The Zoom application was the most commonly used platform (65.9%). Most (89.6%) of the faculty perceived virtual interviews as "adequate" platforms on which the candidates could express themselves, while almost half of the faculty (53.8%) agreed that virtual interviews allowed them to accurately reach an impression about the candidates. Overall, 73.4% of faculty felt comfortable ranking the virtually interviewed candidates. We conclude that the acceptance of participating faculty members in the first Saudi medical residency training matching cycle virtual interviewing event was well-perceived. This study provides evidence for future application and research of virtual interviews in residency candidates' assessment, especially after the pandemic crisis resolves. [ABSTRACT FROM AUTHOR]

Background: With the rapid surge of SARS-CoV-2 Omicron variant, we aimed to assess parents' perceptions of the COVID-19 vaccines and the psychological antecedents of vaccinations during the first month of the Omicron spread., Methods: A cross-sectional online survey in Saudi Arabia was conducted (December 20, 2021-January 7, 2022). Convenience sampling was used to invite participants through several social media platforms, including WhatsApp, Twitter, and email lists. We utilized the validated 5C Scale, which evaluates five psychological factors influencing vaccination intention and behavior: confidence, complacency, constraints, calculation, and collective responsibility., Results: Of the 1,340 respondents, 61.3% received two doses of the COVID-19 vaccine, while 35% received an additional booster dose. Fify four percentage were unwilling to vaccinate their children aged 5-11, and 57.2% were unwilling to give the additional booster vaccine to children aged 12-18. Respondents had higher scores on the construct of collective responsibility, followed by calculation, confidence, complacency, and finally constraints. Confidence in vaccines was associated with willingness to vaccinate children and positively correlated with collective responsibility ( p < 0.010). Complacency about COVID-19 was associated with unwillingness to vaccinate older children (12-18 years) and with increased constraints and calculation scores ( p < 0.010). While increasing constraints scores did not correlate with decreased willingness to vaccinate children ( p = 0.140), they did correlate negatively with confidence and collective responsibility ( p < 0.010)., Conclusions: The findings demonstrate the relationship between the five antecedents of vaccination, the importance of confidence in vaccines, and a sense of collective responsibility in parents' intention to vaccinate their children. Campaigns addressing constraints and collective responsibility could help influence the public's vaccination behavior., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Alenezi, Alarabi, Al-Eyadhy, Aljamaan, Elbarazi, Saddik, Alhasan, Assiri, Bassrawi, Alshahrani, Alharbi, Fayed, Minhaj Ahmed, Halwani, Saad, Alsubaie, Barry, COVID-19 Saudi Research Consortium, Memish, Al-Tawfiq and Temsah.)

The current study aims to evaluate the prevalence of the utilization of various herbal remedies in children hospitalized with lower respiratory illnesses and assess the different herbal products which are most commonly used. Moreover, the indications of usage and the route and frequency of administration are also highlighted. All children who were hospitalized in three centers, through the period of 18 months, due to acute bronchiolitis, pneumonia, or bronchial asthma were included in this study. Any caregivers who were present during the hospitalization of such children were asked if they could respond to a questionnaire that included the names of any herbal products that they used, the indications which warranted their usage, and the frequency and route of administration. A total of 155 patients with acute lower respiratory illnesses were included. The overall prevalence of herbal medicine use was found to be 59.3%. The highest percentage of use was amongst children with bronchiolitis. Around 24 herbal products were used; the most common ones being sesame oil, fenugreek, olive oil, and dates. The most common indications of use were in order to relieve cough and abnormal breathing. The oral route was the main route of administration (95.7%) followed by nasal administration (4.3%). The median number of frequency of administration was two times. In conclusion, the use of herbal medicine in Saudi children with acute lower respiratory illnesses is very common. Further studies to assess the safety profile and possible benefits of these products are needed.