Novel Presentation of Major Histocompatibility Complex Class II Deficiency with Hemophagocytic Lymphohistiocytosis.

PURPOSE: Major histocompatibility complex (MHC) class II deficiency is one of the combined immune deficiency disorders caused by defects in the MHC class II regulatory genes leading to abnormal T cells development and function. Therefore, patients mainly present with increased susceptibility to infections, diarrhea, and failure to thrive. In this report, we present one MHC class II deficient patient with a novel presentation with Hemophagocytic Lymphohistiocytosis (HLH). METHODS: Immunophenotyping of lymphocyte subpopulations and HLA-DR expression was assess by flow cytometry. Gene mutational analysis was performed by whole exome and Sanger sequencing. RESULTS: We reported a 7-year-old girl, who was diagnosed at age of 2 years with MHC class II deficiency by genetic testing and flow cytometry. Two years later, she developed disseminated BCGitis which was treated with proper antimicrobial agents. At the age of 7 years, she presented with clinical features fulfilling 6 diagnostic criteria of HLH including evidence of hemophagocytic activity in bone marrow aspiration. Accordingly, the diagnosis of HLH was established and the patient was started on IV Dexamethasone, Anakinra and IVIG. Eventually, patient started to improve and was discharged in good condition. Few months later, the patient was readmitted with severe pneumonia and sepsis leading to death. CONCLUSION: Patients with MHC class II deficiency might present with disseminated BCGitis especially if the patient has severe T cell lymphopenia. Additionally, this immune defect might be added to the list of inborn errors of immunity that can be complicated with HLH.

The prevalence of serious bacterial infections in infants 90 days and younger with viral respiratory tract infections.

OBJECTIVES: To determine the prevalence and risk factors of serious bacterial infections (SBIs) in infants 90 days and younger with a confirmed respiratory tract infection (RTI). METHODS: A retrospective cross-sectional study was carried out of infants 90 days and younger who were admitted to King Abdullah Specialized Children's Hospital, Riyadh, Saudi Arabia, from January 2019 to December 2020, with polymerase chain reaction (PCR)-proven RTI. Cultures from the urine, blood, and cerebrospinal fluid were reviewed with the patients' demographic information and clinical presentation. RESULTS: Of 322 patients with a viral RTI, 21 (6.5%) had a concurrent urinary tract infection (UTI), and no patients had bacteremia or bacterial meningitis. The risk of a concurrent SBI was 4 times higher in neonates (odds ratio [OR]=4.66, 95% confidence interval [CI]: [1.32-16.47]). Previously healthy infants were at lower risk to have a SBI in comparison to those with chronic diseases or renal abnormalities (OR=0.23, 95% CI: [0.09-0.61]). In addition, male gender (OR=3.49, 95% CI: [1.07-11.38]) and abnormal urinalysis (OR=4.12, 95% CI: [1.48-11.42]) were predictors of SBIs. There was no statistically significant association between the number or type of detected viruses and SBIs. CONCLUSION: No cases of invasive bacterial infections were found in infants with PCR-proven viral RTIs. There is a risk of having a concurrent UTI in this cohort of patients. Neonates had a higher risk of UTIs as compared to older infants.

Depression Among Caregivers of Patients With Dementia.

We aimed to assess depressive symptoms in caregivers of patients with dementia, taking into account variables such as severity of dementia, sex, age, and financial state of the patient. We recruited 222 caregivers of patients with dementia from King Abdulaziz Medical City, Saudi Alzheimer's Disease Association, and online, from February to June 2017, and employed the Patient Health Questionnaire to assess depression, and the Blessed Dementia Scale to assess severity of dementia. The prevalence of clinical depression among the caregivers was 14.9%. Minimal symptoms of depression were experienced by 96 caregivers (43.2%), moderate by 45 (20.3%), moderate-severe by 15 (6.8%), and severe by 8 (3.6%). Forty-six patients had mild dementia (22%), 73 had moderate (34.9%), and 90 had severe (43.1%). Caregivers of patients with dementia experience considerable burden and lower level of health-related quality of life and may be predisposed to developing clinical depression.

Prognostic factors for epilepsy following first febrile seizure in Saudi children.

BACKGROUND: Febrile seizure is the most common convulsive event during childhood, but it is generally considered benign. OBJECTIVES: To estimate the rate of epilepsy after first presentation of febrile seizure and to describe factors that can predispose children to have subsequent epilepsy after their first febrile seizure. DESIGN: Retrospective chart review. SETTING: A tertiary care center in Riyadh. PATIENTS AND METHODS: All children whose first febrile seizure developed between 2009-2012, and who were admitted to the pediatric wards. MAIN OUTCOME MEASURES: The rate of epilepsy and prognostic factors for epilepsy following first febrile seizure. RESULTS: Of 109 febrile seizure patients, 6 (5.5%, 95% CI: 2.1% - 11.6%) were diagnosed with subsequent epilepsy 5 to 46 months after their first febrile seizure. The risk of having subsequent epilepsy was higher in children who were convulsing at a low-grade fever during their first febrile convulsion (P=.02). Moreover, delayed vaccination status (P=.03), prolonged duration of the first convulsion (P=.04), frequent febrile seizures (P=.01), and fever without documented infection (P=.03) during the first febrile convulsion were associated with epilepsy. CONCLUSION: The rate of epilepsy following first febrile seizure in Saudi children is within the range of values reported in different populations. Although most childhood febrile seizures are self-limiting, careful observation is needed, particularly for children who exhibit factors associated with epilepsy. LIMITATIONS: Conducted at a single center in Saudi Arabia, which may limit generalizability.

The prevalence and association of stress with sleep quality among medical students.

INTRODUCTION: Medical students tend to reduce their sleep, in an effort to adjust and cope with their workload and stressful environment. This study estimated the prevalence of and the relationship between poor sleep quality and stress among medical students. METHODS: This cross-sectional study was conducted using a stratified random sample of male and female medical students in King Saud bin Abdulaziz University for Health Sciences in Riyadh, Saudi Arabia. A self-administered questionnaire was distributed to assess sleep quality using the Pittsburgh Sleep Quality Index, and the stress level by using the Kessler Psychological Distress Scale. RESULTS: A high prevalence of poor sleep quality (76%) and stress (53%) were found, with a statistically significant association (p<0.001). Logistic regression indicated that students who are not suffering from stress are less likely to have poor sleep quality (OR=0.28, p<0.001), and the risk of having poor sleep quality is almost four times higher in students whose cumulative grade point average (GPA) is less than 4.25 (OR=3.83, p=0.01). CONCLUSION: The study documents a statistically significant association between stress and poor sleep quality. A recommendation for the management of medical college is to establish academic counseling centers focusing in promoting good sleep hygiene and strengthening students' study skills and coping with their stressful environment.

Burnout and its association with extracurricular activities among medical students in Saudi Arabia.

OBJECTIVES: To assess levels of burnout in medical students, and to explore the influence of extracurricular activities on burnout at a medical school in Saudi Arabia. METHODS: This cross-sectional study was conducted with first to fourth year medical students at King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) in Riyadh, Saudi Arabia. Socio-demographic, burnout level (the Maslach Burnout Inventory-Student Survey, MBI-SS) and participation in extracurricular activities data were collected using a self-administered questionnaire. Statistical analyses were performed using the Pearson's chi-square test and binary logistic regression. RESULTS: From the 306 medical students approached, 249 (81.4%) completed the questionnaire. The level of high burnout was 67.1% (n=167). The study revealed that the majority (62.3%, n=155) of students had high levels of cynicism, 58.6% (n=146) had high levels of emotional exhaustion, and 60.2% (n=150) had low levels of professional efficacy. Most of the students (73.5%, n=183) participated in extracurricular activities, and 112 (45%) students were organizers of extracurricular activities. No significant association was found between burnout levels and the frequency of involvement in extracurricular activities (χ2=2.2, df=2, p=0.333). However, students who were organizing extracurricular activities were less likely to have low professional efficacy (OR=0.51, 95% CI: 0.27- 0.96). CONCLUSIONS: High levels of burnout were reported at this medical school. Although the burnout level is not significantly associated with the frequency of involvement in extracurricular activities, leading and organizing extracurricular activities might result in lower levels of burnout. Therefore, improving the students' leadership skills should be considered in curriculum planning, and greater emphasis should be placed on the quality of involvement in extracurricular activities rather than the quantity.