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Objectives: Professionalism has garnered immense attention in medical education due to increased societal accountability and focus on excellence in healthcare. However, less attention has been given to identifying attitudes about professionalism in medical students who are the future advocates of the healthcare system. This study aimed to assess perceptions of Saudi undergraduate medical students towards professionalism. Methods: A crosssectional survey was carried out among second and sixth year students of the College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia, in September 2018. A self-administered professionalism questionnaire was anonymously completed. Students were asked to provide their level of agreement with 18 survey items using a 5-point Likert scale. Results: Overall, 288 students participated in the study (males: 49.3% and females: 50.7%), with a response rate of 90%. The median professionalism score was high (71.0; range: 64–76) regardless of age, gender or level of education. Similar high scores were noted in the following subscales: Excellence, 20.0 (range: 18–21); Respect for Others, 17.0 (14–18); Altruism, 12.0 (10–13); Duty, 8.0 (7–9); Accountability, 7.0 (6–8) and Honour and Integrity, 8.0 (7–10). No gender differences were observed in the majority of subscales. However, males demonstrated higher scores in the Duty subscale (males: 9.0 versus females: 8.0; P = 0.026). Conclusion: Medical students demonstrated high professionalism scores. Future studies are needed to assess the impact of the course curriculum on their level of professionalism over time. Keywords: Attitudes; Curriculum; Medical Students; Professionalism; Survey; Saudi Arabia.

Nouf Al-Kahtani, Esra Al-Dhaif, Noor Alsaihtati, Khalid Farid, Suzan AlKhater Department of Health Information Management and Technology, College of Public Health, Imam Abdulrahman Bin Faisal University, Dammam, Saudi ArabiaCorrespondence: Nouf Al-KahtaniDepartment of Health Information Management and Technology, College of Public Health, Imam Abdulrahman Bin Faisal University, Dammam, Saudi ArabiaEmail nkalkahtani@iau.edu.saPurpose: The picture archiving and communication system (PACS) is one of the most important tools used in patient care in many hospitals worldwide. It allows clinicians to remotely communicate and consult with other clinicians on patient cases and view diagnostic images from different angles, thus facilitating patient diagnosis and treatment. Several studies have been conducted in Saudi Arabia to evaluate different aspects of PACS use; however, no comprehensive study has been conducted in its Eastern Province. This study aimed to investigate clinicians’ perceptions of the advantages and disadvantages of the use of PACS in Eastern Province hospitals in Saudi Arabia and identify the factors that affect their perceptions and its use. In addition, it aimed to gather recommendations of clinicians for improving the system and its implementation.Methods: A qualitative approach with grounded theory method was employed. A sample of 18 residents, radiologists, and consultants from three Eastern Province hospitals in Saudi Arabia participated in the study. Data were collected using semi-structured interviews over a period of 7 months.Results: The perceived advantages of PACS included providing quality images and the ability to manipulate their resolution, whereas the perceived barriers included low-speed internet connections and technical problems. Participants recommended providing clinicians remote access to the system and implementing a mobile PACS application. The theory that emerged from the analysis revealed that demographic, system-related, and hospital-related factors affected participants’ perspectives of PACS and its use.Conclusion: The results of this study and its theoretical model can help identify areas of improvement and inform policy and strategic planning for the effective implementation of PACS in patient care in Saudi Arabia.Keywords: radiology, healthcare technology, medical technology, patient care

Suzan A AlKhater,1,2 Rana A Albalwi,2 Sara A Alomar,1 Anfal A Alsultan,1 Halah R Almuhaidib,1 Rahaf A Almousa,1 Sarah M Alanezi,1 Raghad K Alghamdi,1 Hwazen A Shash1,2 1College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia; 2Department of Pediatrics, King Fahad Hospital of the University, Al-Khobar, Saudi ArabiaCorrespondence: Hwazen A ShashDepartment of Pediatrics, King Fahd Hospital of the University, Al Khobar 31952, Saudi ArabiaTel +966540353333Email hashash@iau.edu.saPurpose: Guidelines for managing neonatal hemolytic disease of the newborn (HDN) recommend a selective approach in the use of direct antiglobulin test (DAT). In Saudi Arabia, many hospitals still perform routine DAT for all newborns. This study assessed the need for phototherapy in relation to DAT results in full-term healthy newborns.Patients and Methods: A retrospective analysis of all healthy newborns admitted during 2018 was performed. The primary outcome was the association of positive DAT results with phototherapy.Results: There were 1463 newborns born during the study period. The DAT was positive at 4.4%. The 24-hour bilirubin levels were higher in DAT-positive cases (P=0.06); however, peak bilirubin levels were not correlated with the DAT results (P=0.717). Thirty-six neonates (2.46%) required phototherapy, and the need was similar among DAT-positive and DAT-negative cases (P=0.271). The most common indication for phototherapy was clinical jaundice in 22 neonates (61.1%), followed by DAT positivity in 12 (33.3%) and hospital protocol in 2 patients (5.6%) (P < 0.01 by chi-square overall comparison).Conclusion: Our results indicate that factors other than DAT positivity are important in assessing the need for phototherapy in newborns. Clinical signs of jaundice were indicators of high serum bilirubin levels and subsequent phototherapy, further indicating that the DAT test was overused in predicting the need for phototherapy.Keywords: hemolytic disease of the newborn, neonatal jaundice, neonatology, screening

Background Bronchial asthma is a chronic inflammatory airway disease that is characterized by reversible airway obstruction due to bronchial hyperresponsiveness. It is one of the most common chronic diseases. In Saudi Arabia, asthma affects 2 million people with asthma frequency in children markedly higher than adults with regional variations ranging from 9% to 33.7%. Objective The aim of this study is to measure asthma awareness and knowledge of study participants during the ongoing annual Saudi asthma awareness campaigns and compare them with previous survey data conducted in 2014. Methods A cross-sectional study was carried out in the form of a survey distributed across three major cities in Saudi Arabia, Jeddah, Riyadh and Dammam, during the National Asthma Awareness Campaign in major regional shopping centers in April 2019. Asthma knowledge scores across different demographic groups were generated from surveyed data. Descriptive and correlative statistical analyses were performed to identify factors associated with changes in asthma knowledge. Scores were compared to previous survey results. Results The mean score for asthma knowledge was 15.6 out of 25. Asthma knowledge significantly correlated with age (P=0.002), asthma status of the participants (P=0.001), having children with asthma (P=0.005) or knowing friends or family with asthma (P=0.029) but not with other socioeconomic factors such as gender, marital status, occupation, level of education and number of children in the family (P > 0.05). There was a significant difference in the asthma scores from 2014 (M= 63%, SD=26) to 2019 (M= 70%, SD= 26) conditions; t (24) = -2.106, p=0.046. Conclusion Further educational campaigns are necessary to enhance and measure general public awareness of asthma, its differential diagnosis against other respiratory infections, environmental triggers, risk factors as well as treatment options.

The crosstalk between host immunity and the external environment in the mucous membranes of the gastrointestinal and respiratory tracts in bronchial asthma has recently been scrutinized. There is compelling evidence that the microbiota at these sites may play an important role in the pathogenesis of this chronic airway disease. The appearance of bacteria early in life in the gut before dissemination to the airways plays a pivotal role in shaping mucosal immunity. Loss of microbial diversity or dysbiosis can result in aberrant immune-mediated inflammation and mucosal barrier disruption, which coincides clinically with the successive development of the "allergic march" in asthma. Microbial manipulation may be effective in curbing asthma development by indirectly preserving homeostatic epithelial barrier functions. The protective effects and mechanisms of immunity-microbiome crosstalk at mucosal sites require further investigation to identify therapeutic and preventive measures in asthma. This topical review aims to highlight new evidence that compromised epithelial barrier function, which results in deregulated crosstalk between the microbiome and host mucosal immune system, is an important disease mechanism in asthma. In the light of current COVID-19 pandemic, the collective findings on the impact of mucosal microbiota on the suceptibility to SARS-CoV-2 infection and severity of COVID-19 is explored. The possible therapeutic implications to target these abnormalities are further discussed.

Montelukast is a leukotriene receptor antagonist (LTRA) commonly prescribed for asthma, allergic rhinitis and sleep-related breathing disorders. Recently, some studies have reported several adverse events, such as neuropsychiatric disorders and sleep disturbances, among children. Objective: To obtain more insight into the safety profile of montelukast for children with asthma, allergic rhinitis and sleep-related breathing disorders. Method and results: We retrospectively studied all adverse drug reactions to montelukast among 385 children 6 months or older in six tertiary centers over a two-year period. A total of 89.6% were asthmatic, 50% had allergic rhinitis and 13.6% had sleep-related breathing disorders; Singulair was the most common type of montelukast used (67.9%). This study reported a high prevalence of adverse drug reactions among 123 patients (31.9%), predominantly in those aged 4–9 years (52.8%), followed by adolescents (24.4%) and toddlers (22.8%). Two (ADRs) were reported in 9.8% of the children, while three or more were reported in 5.5%. Sleep disturbance was the most common (ADRs), affecting 15.1% of participants (overlap was common; 5.5% of children experienced sleep difficulties, 4.4% experienced sleep interruption and decreased sleep, and 1.82% experienced nightmares), followed by agitation (10.4%), pain (9.4%) and hyperactivity (6.8%). No serious (ADRs) were reported. Eleven percent of families faced difficulties in purchasing montelukast, and only 57% of families had insurance. Misconceptions were common (9.8% reported it to be a steroid, while 30.6% believed it to be a bronchodilator). Although 81% of the families believed it was an effective and preventive medication, 5.3% stopped the drug due to concern about side effects, especially agitation (3%) and nightmares (0.6%). Conclusion: These data demonstrate that montelukast is effective, but the associated adverse neuropsychiatric drug reactions are more prevalent than those reported in the literature. In particular, sleep disturbance, agitation, pain and hyperactivity were observed. Pediatricians should be aware of such (ADRs). Misconceptions about montelukast are still common, and parental counseling and urgent epidemiological studies are needed to quantify the risk for management plans.

Background Immunoglobulin A (IgA) vasculitis is the most common vasculitides of childhood. The aim of this study was to characterise the disease and identify clinical and laboratory factors associated with renal involvement. Methods Medical records of children aged ≤18 years with the diagnosis of IgA vasculitis according to the EULAR/PRES criteria were retrospectively reviewed for demographic data, clinical manifestations and laboratory tests. Factors associated with renal involvement were determined using multivariable logistic regression analysis. Results A total of 113 patients were involved in the study. There were 57.5% of males (male: female ratio of 1.4:1). The mean (SD) age was 7.1 (3.0) years. Most of the patients presented during the fall (37.2%) and winter (29.2%). The most common presenting complaints were skin rash (83.2%) and arthralgia (9.7%). The most frequent presentation of the skin was palpable purpuric rash, except for two patients (1.8%) presenting with blistering eruptions in the form of hemorrhagic bullae and ecchymoses of both extremities. We have encountered one patient with pulmonary-renal syndrome. Renal involvement was found in 27.4% of the patients. In the multivariate analysis, the strongest factors associated with renal involvement were older age and elevated creatinine level. Factors that improved model fit were higher platelet and lower white blood cell counts, elevated anti-streptolysin O and a history of preceding infection. Conclusion The clinical profile of the disease in our cohort was similar to other reports. However, we have encountered a few severe and rare atypical presentations. Over a quarter of children in our setting had renal involvement. Children presenting with these risk factors need to be closely monitored and long-term follow-up is recommended.

Background Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder (PID) affecting NADPH oxidase activity. The rarest form of the disease is considered to be caused by NCF2 gene bi‐allelic variant. Here, we report the clinical and molecular characterization of a patient presenting with early‐onset severe disease due to bi‐allelic NCF2 variant. Methods Gene mutational analysis was performed by whole‐exome and Sanger sequencing. Results The patient presented with a history of fever and rash since the age of 1 month, followed by destructive osteomyelitis and necrotizing lymphadenopathy. The patient received the Bacillus Calmette‐Guérin (BCG) vaccine at birth; she was subsequently diagnosed with disseminated BCG infection. Whole‐exome sequencing identified a private (unreported) homozygous variant in NCF2 (c.290C > A) that results in a nonconservative change, p.Ala97Asp, in the p67phox protein. The variant is located in the third helix of the TRP domain, which is crucial for the binding of GTPase RAC2 to the NADPH oxidase complex. Conclusion We identified a novel NCF2 variant located in the region interacting with RAC2 that is linked to a severe and early CGD phenotype in the setting of disseminated BCG infection. Our findings support postponing BCG vaccination until 6–12 months of age and after PID assessment., Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder (PID) affecting NADPH oxidase activity. Bi‐allelic mutation of the NCF2 gene is considered the rarest form of the disease. Here, we report the clinical and molecular characterization of a patient presenting with early onset severe disseminated BCG infection due to bi‐allelic NCF2 mutation.

Background Dermatological disorders are common in children. This study sought to describe the prevalence and pattern of dermatological emergencies encountered in the pediatric emergency room (ER). Methods This was a retrospective study of patients with dermatological complaints visiting the pediatric ER at a teaching hospital in Saudi Arabia during the year 2014. Results A total of 44,162 ER visits were recorded among children aged ⩽13 years, of which 2070 (4.7%) involved dermatological complaints. Over 80 dermatological conditions were encountered, the most common of which was atopic dermatitis (10.8%), followed by urticaria (9.7%). Categorization of diseases according to etiology revealed that the largest proportion of patients had infectious diseases (25.2%). Rare genetic disorders and life-threatening dermatological conditions were also encountered. A total of 10.5% of patients did not receive a diagnosis. Conclusions Our study revealed a high frequency and wide spectrum of dermatological disorders in the pediatric ER. Considering the high rate of undiagnosed cases, this study highlights the need to objectively measure physicians’ abilities to diagnose dermatological disorders. Identification of common and potentially dangerous disorders can aid in the development of educational resources for trainees and in the allocation of future resources for the treatment of common conditions.

Recommendations for the screening of hemolytic disease of the newborn (HDN) advise taking a selective approach in using the direct antiglobulin test (DAT) for mothers with blood group O or RhD-negative. This study assessed the relation of DAT results to maternal and neonatal blood groups and evaluated the risk of HDN. A retrospective analysis of all healthy newborns admitted during 2018 was performed. Of 1463 newborns, 4.4% had a positive DAT. There were 541 (37%) maternal–neonatal pairs with ABO incompatibility, most commonly born to mothers with blood group O. The cohort of neonates born to mothers with blood group O was divided into three groups: the O-A and O-B groups and the O-O group as a control. The DAT was positive in 59 (8.3%) neonates, most were in the O-B group (49.2%), whereas 13.6% were in the control group (p &lt, 0.01). While the neonates in the O-B group were more likely to require phototherapy (p = 0.03), this finding was not related to DAT results. We found that selective testing of mothers with blood group O, mothers with blood group O or RhD-negative, neonates with blood group B, and neonates with blood group B born to mothers with blood group O or RhD-negative was ineffective in detecting phototherapy requirements. Our results indicate no difference regarding the need for phototherapy in neonates born to mothers with different blood types regardless of the DAT results.

Non-alcoholic fatty liver disease (NAFLD) is a progressive disease that encompasses a spectrum of liver diseases, ranging from simple steatosis to non-alcoholic steatohepatitis (NASH). Data related to survival in children are scarce, but these data firmly associate NAFLD with higher risks of hepatic and non-hepatic morbidities and mortalities compared with the general population. More recently, the association between NAFLD and cardiovascular disease among children has increasingly been recognized. Given that obesity is a major risk factor for the disease, paediatric NAFLD is becoming a global issue, paralleling the dramatic rise in obesity worldwide. NASH, which is more common in obese children, has the potential to advance to liver fibrosis and failure. It is unclear why certain patients undergo such transformation but this susceptibility is likely related to an interaction between a genetically susceptible host and the surrounding environment. Currently, treatment is largely conservative and includes lifestyle modification, attainable through healthy weight reduction via diet and exercise. In this review, current knowledge about NAFLD in children is summarized. This review aims to increase the awareness of the medical community about a hidden public health issue and to identify current gaps in the literature while providing directions for future research.

Aim: Pityriasis rosea (PR) is a common acute inflammatory skin disease characterized by pruritic erythematous papulosquamous eruption that is self-limited which can rarely pose a diagnostic challenge. In this report, we present a rare presentation of PR.Method: the case was completely evaluated including laboratory works and a final diagnosis of erythema multiforme-like PR was reached. Besides, we reviewed all atypical presentations of PR that are reported in the medical literature.Results: our patient has a morphological variant of PR which is erythema multiforme-like. The presence of a herald patch and the rapid resolution of the symptoms supports our diagnosis. This variant is considered rare and to our knowledge, this is the seventh case of erythema multiforme-like PR reported in the medical literature.In conclusion: we report a case of erythema multiforme-like PR. It is important that physicians recognize the wide spectrum of PR variants so that appropriate management can be arranged.

Chronic mucocutaneous candidiasis (CMC) is defined as recurrent or persistent infection of the skin, nails, and/or mucosae with commensal Candida species. The first genetic etiology of isolated CMC-autosomal recessive (AR) IL-17 receptor A (IL-17RA) deficiency-was reported in 2011, in a single patient. We report here 21 patients with complete AR IL-17RA deficiency, including this first patient. Each patient is homozygous for 1 of 12 different IL-17RA alleles, 8 of which create a premature stop codon upstream from the transmembrane domain and have been predicted and/or shown to prevent expression of the receptor on the surface of circulating leukocytes and dermal fibroblasts. Three other mutant alleles create a premature stop codon downstream from the transmembrane domain, one of which encodes a surface-expressed receptor. Finally, the only known missense allele (p.D387N) also encodes a surface-expressed receptor. All of the alleles tested abolish cellular responses to IL-17A and -17F homodimers and heterodimers in fibroblasts and to IL-17E/IL-25 in leukocytes. The patients are currently aged from 2 to 35 y and originate from 12 unrelated kindreds. All had their first CMC episode by 6 mo of age. Fourteen patients presented various forms of staphylococcal skin disease. Eight were also prone to various bacterial infections of the respiratory tract. Human IL-17RA is, thus, essential for mucocutaneous immunity to Candida and Staphylococcus, but otherwise largely redundant. A diagnosis of AR IL-17RA deficiency should be considered in children or adults with CMC, cutaneous staphylococcal disease, or both, even if IL-17RA is detected on the cell surface.

We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed us to make several key observations. We highlight 155 genes that we propose to be recessive, disease-related candidates. We report additional mutational events in 64 previously reported candidates (40 recessive), and these events support their candidacy. We report recessive forms of genes that were previously associated only with dominant disorders and that have phenotypes ranging from consistent with to conspicuously distinct from the known dominant phenotypes. We also report homozygous loss-of-function events that can inform the genetics of complex diseases. We were also able to deduce the likely causal variant in most couples who presented after the loss of one or more children, but we lack samples from those children. Although a similar pattern of mostly recessive causes was observed in the prenatal setting, the higher proportion of loss-of-function events in these cases was notable. The allelic series presented by the wealth of recessive variants greatly expanded the phenotypic expression of the respective genes. We also make important observations about dominant disorders; these observations include the pattern of de novo variants, the identification of 74 candidate dominant, disease-related genes, and the potential confirmation of 21 previously reported candidates. Finally, we describe the influence of a predominantly autosomal-recessive landscape on the clinical utility of rapid sequencing (Flash Exome). Our cohort’s genotypic and phenotypic data represent a unique resource that can contribute to improved variant interpretation through data sharing.

Background Primary immunodeficiency disorders associated with autoimmunity are poorly understood. Central nervous system (CNS) vasculitis can complicate the courses of such entities, but it is underappreciated. Deletion of the dedicator of cytokinesis 8 (DOCK8) gene is considered to be the autosomal recessive form of hyperimmunoglobulin E syndrome which is a rare type of primary immunodeficiency disease characterized by elevated levels of IgE antibody, eczema, and recurrent staphylococcal infections. DOCK8 deletion is associated with fatal CNS vasculitis. However, descriptions of such cases and their outcomes are scarce in the literature. Case presentation This report describes a young female with a DOCK8 gene deletion presenting acutely with squint, fatigue and visual hallucinations. The patient was diagnosed as having neuritis of the third oculomotor nerve and encephalitis, which were thought to be related to her underlying immune deficiency, however, she subsequently was diagnosed with CNS vasculitis based on brain magnetic imaging and magnetic resonance angiography findings. We provide here a comprehensive description of the patient’s clinical outcome and outline an effective treatment approach that may be useful for similar patients and includes the use of steroids and mycophenolate mofetil (MMF). The treatment was well tolerated and enabled the patient to recover most of her neurological deficits. However, despite the initial improvement, she later developed stroke. Conclusions To the best of our knowledge, this is the first report in the literature of a case of primary immunodeficiency complicated by CNS vasculitis demonstrating a successful outcome. Our observations indicate that the combination of MMF and steroids is an effective treatment for CNS vasculitis associated with DOCK8 deficiency. However, lack of awareness of the neurological comorbidities associated with primary immunodeficiencies and the delay in diagnosis likely contributed to the development of acute cerebral infarction. Early treatment and aggressive control of the disease’s initial inflammation is essential for preventing catastrophic stroke.