Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.

Biallelic changes in the ZNFX1 gene have been recently reported to cause severe familial immunodeficiency. Through a search of our bio/databank with information from genetic testing of >55 000 individuals, we identified nine additional patients from seven families with six novel homozygous ZNFX1 variants. Consistent with the previously described phenotype, our patients suffered from monocytosis, thrombocytopenia, hepatosplenomegaly, recurrent infections, and lymphadenopathy. The two most severely affected probands also had renal involvement and clinical presentations compatible with hemophagocytic lymphohistiocytosis. The disease was less lethal among our patients than previously reported. We identified two missense changes, two variants predicted to result in complete protein loss through nonsense-mediated decay, and two frameshift changes that likely introduce a truncation. Our findings (i) independently confirm the role of ZNFX1 in primary genetic immunodeficiency, (ii) expand the genetic and clinical spectrum of ZNFX1-related disease, and (iii) illustrate the utility of large, well-curated, and continually updated genotype-phenotype databases in resolving molecular diagnoses of patients with initially negative genetic testing findings.

Remote interviews for medical residency selection during the initial COVID-19 crisis: a national survey.

BACKGROUND: Medical training programs candidate's interview is an integral part of the residency matching process. During the coronavirus disease 2019 (COVID-19) pandemic, conducting these interviews was challenging due to infection prevention restrains (social distancing, namely) and travel restrictions. E-interviews were implemented by the Saudi Commission for Healthcare Specialties (SCFHS) since the matching cycle of March 2020 to hold the interviews in a safer virtual environment while maintaining the same matching quality and standards. AIM: This study was conducted to assess the medical training residency program applicants' satisfaction, stress, and other perspectives for the (SCFHS) March 2020 Matching-cycle conducted through an urgently implemented E-interviews process. METHOD: A cross-sectional, nationwide survey (Additional file 1) was sent to 4153 residency-nominated applicants to the (SCFHS) March 2020 cycle. RESULTS: Among the 510 candidates who responded, 62.2% applied for medical specialties, 20.2% applied for surgical specialties, and 17.6% applied for critical care and emergency specialties. Most respondents (61.2%) never had previous experience with web-based video conferences. Most respondents (80.2%) used the Zoom application to conduct the current E-interviews, whereas only 15.9% used the FaceTime application. 63.3% of the respondents preferred E-interviews over in-person interviews, and 60.6% rated their experience as very good or excellent. 75.7% of the respondents agreed that all their residency program queries were adequately addressed during the E-interviews. At the same time, 52.2% of them agreed that E-interviews allowed them to represent themselves accurately. 28.2% felt no stress at all with their E-interviews experience, while 41.2% felt little stressed and only 8.2% felt highly stressed. The factors that were independently and inversely associated with applicants' level of stress with E-interviews experience were their ability to represent themselves during the interviews (p = 0.001), cost-savings (p < 0.001), their overall rating of the E-interviews quality (p = 0.007) and the speed of the internet connection (p < 0.006). CONCLUSION: Videoconferencing was implemented on an urgent basis during the COVID-19 pandemic in the medical residency application process in Saudi Arabia. It was perceived as an adequate and promising tool to replace in-person interviews in the future. Applicants' satisfaction was mainly driven by good organization, cost-saving, and their ability to present themselves. Future studies to enhance this experience are warranted.

Health and economic burden of insufficient physical activity in Saudi Arabia.

BACKGROUND: Insufficient physical activity (PA) was estimated to cause 4.8% of deaths and 2.6% of disability-adjusted life-years (DALYs) due to noncommunicable diseases in Saudi Arabia in 2019. While Saudi Arabia is already achieving great improvements, we predict the health and economic burden of insufficient PA up to 2040 to present a case for policy makers to invest more in the uptake of PA. METHODS: Using a population health model to estimate avoidable health loss, we identified four causes of health loss related to low PA (cardiovascular diseases, diabetes, breast cancer, and colorectal cancer) and estimated the deaths and DALYs from these causes. We projected the expected disease burden until 2040 under alternative assumptions about future PA levels and trends by using three health scenarios: baseline (no change in 2019 PA levels), intervention (81% of the population achieving sufficient PA levels), and ideal (65% of population: moderate PA, 30%: high PA, and 5%: inactive). We applied an "intrinsic value" approach to estimate the economic impact of each scenario. RESULTS: Overall, we estimate that between 2023 and 2040, about 80,000 to 110,000 deaths from all causes and 2.0 million to 2.9 million DALYs could be avoided by increasing PA levels in Saudi Arabia. The average annual economic loss from insufficient PA is valued at 0.49% to 0.68% of the current gross domestic product, with an average of US$5.4 billion to US$7.6 billion annually till 2040. The most avoidable disease burden and economic losses are expected among males and because of ischemic heart disease. CONCLUSIONS: This study highlights that low PA levels will have considerable health and economic impacts in Saudi Arabia if people remain inactive and do not start following interventions. There is an urgent need to develop innovative programs and policies to encourage PA among all age and sex groups.

Munchausen syndrome by proxy: a case report.

BACKGROUND: Inappropriately high levels of insulin secretion can cause the potentially fatal condition of persistent hyperinsulinemic hypoglycemia of infancy. Our paper focuses on another cause of severe hypoglycemia, which can be easily missed. CASE PRESENTATION: An 18-month-old Saudi female was referred to our hospital for further investigation and management of her recurrent hypoglycemic attacks as a case of persistent hyperinsulinemic hypoglycemia of infancy. During admission, we noticed multiple red flags from the history; the mother was insisting on a pancreatectomy, rather than going for a positron emission tomography scan, and most importantly, all hypoglycemic attacks occurred while the mother was around. Consequently, after further investigation, the case was diagnosed as a caregiver-fabricated illness, and the case was referred to the Child Protection Center. CONCLUSIONS: One must have a high index of suspicion to diagnose caregiver-fabricated illness. Physicians should be more attentive to prevent such a disease, which could eventually become lethal if left unnoticed.

Munchausen Syndrome by Proxy Presenting as Pharyngeal Dysphagia and Recurrent Mouth Ulcers: A Case Report.

We report a Munchausen syndrome by proxy (MSBP) case, which presented as pharyngeal dysphagia and an acquired tracheoesophageal fistula (TEF). A six-month-old Saudi male presented with fever, persistent oral ulcers, intermittent bleeding from the ulcers, failure to thrive (FTT), poor appetite, and possible genetic disease. He had a history of recurring admissions due to infections, including those affecting the chest, ear, and bowel. Additionally, he tested positive for vancomycin-resistant enterococcus. There was no history of surgical procedures or blood transfusions. Due to the patient's nutritional status, a gastrostomy tube was inserted. The patient had recurrent bleeding from the tracheostomy tube during the hospital stay despite normal coagulation and platelet profile. Consequently, after diagnostic laryngoscopy, the otolaryngologist specialist pointed out that such retropharyngeal injuries are seen in patients with inflicted injuries, which is, in this case, caused by the mother, as she was the only one with the child during the recurrent bleeding episodes. Thus, we describe a clinical instance of MSBP, especially imitating pharyngeal dysphagia, leading to a delayed diagnosis. We advise adding MSBP to the possible diagnoses upon encountering pharyngeal dysphagia and oral ulcers.

Understanding the epidemiology and impact of the COVID-19 pandemic on domestic violence and child abuse in Saudi Arabia: A cross-sectional study.

Objectives: The purpose of this paper is to highlight the impact of a pandemic on the lives of vulnerable members of the community who have experienced or are 'at risk' of experiencing intimate family violence and child abuse in Saudi Arabia. By reviewing the experience in Saudi Arabia in the context of the international literature, the study explores similarities and differences in the impact of the pandemic on family violence. Methods: The study investigated the impact of the COVID-19 pandemic on family violence and child abuse in Saudi Arabia by conducting a comparative analysis of the prevalence of cases, types of abuse, and geographical location of those experiencing violence between the years 2019 and 2020. Data were obtained from the Family Violence Reporting Center 1919 in Saudi Arabia. Results: The study found that the risk of family violence and child abuse increased during the COVID-19 pandemic in Saudi Arabia, similar to findings in other countries. Conversely, there was a decrease in the number of reports due to factors associated with COVID-19. Conclusions: The study highlighted the importance of ensuring that existing policies and services are sufficient to ensure the risks arising from the impact of COVID-19 responses and minimize the negative consequences.

Faculty Members' Perspective on Virtual Interviews for Medical Residency Matching during the COVID-19 Crisis: A National Survey.

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.

Chest pain in a 12-year-old boy: when is it a harbinger of poor outcome?

Chest pain is usually a benign presentation in children who present to emergency departments (ED) or primary care centers. Unlike adults, where chest pain is commonly due to cardiac causes, in children the cause is more likely secondary to non-cardiac causes. Here we present a case of a child known to have hyper-eosinophilic syndrome (HES) who presented with sudden onset of chest pain and had a rapidly progressive and fatal outcome in the ED. We discuss the ED approach to the child with chest pain and review acute myocardial infarction (AMI) in children.