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Introduction: Autism Spectrum Disorder (ASD) is a lifelong hereditary neurodevelopmental disorder characterised by a lack of social communication and restricted and repetitive behaviours. The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) classified symptoms of autism into two domains: the social communication and interaction domain. However, studies on autism in Saudi Arabia are still insufficient. Therefore, awareness and knowledge about autism can facilitate early detection and treatment, resulting in better outcomes. Aim: To evaluate parents’ knowledge, awareness, and attitude towards their autistic children in a tertiary care hospital in Saudi Arabia. Materials and Methods: This hospital-based cross-sectional study was conducted at Baljurashi Mental Health Hospital, ALBaha region, Saudi Arabia, from January 2023 to November 2023. A total of 69 parents with autistic children who attended the outpatient clinic at Baljurashi Mental Health Hospital were included in the study. A questionnaire was administered among parents to assess their knowledge, awareness, and attitude regarding autism. Data was statistically analysed using descriptive statistics and the Chi-square test. Results: The age of the parents ranged from 16 to over 50 years, with 47 (68.1%) being males and 22 (31.9%) being females. Almost 29 (42.0%) of the parents were postgraduates, and 21 (30.4%) had a university-level education. About 24 (34.8%) of the participants believed that consanguineous marriage increases the risk of autism, 19 (27.5%) believed that some vaccines increase the risk of autism, and 39 (56.5%) knew that autism is associated with learning disabilities. Three-quarters of the participants, 54 (78.3%), stated that autism was known to them, 50 (72.5%) thought that an autistic child could be affected by a normal child, and 53 (76.8%) had good knowledge about autism. Conclusion: The study showed that the majority of parents had good knowledge about autism disorder. The findings reflect the positive impact of focused training initiatives and public awareness efforts aimed at improving parents’ knowledge, awareness, and attitude toward autism. [ABSTRACT FROM AUTHOR]

Background: Human iPSCs' derivation and use in clinical studies are transforming medicine. Yet, there is a high cost and long waiting time associated with autologous iPS-based cellular therapy, and the genetic engineering of hypo-immunogenic iPS cell lines is hampered with numerous hurdles. Therefore, it is increasingly interesting to create cell stocks based on HLA haplotype distribution in a given population. This study aimed to assess the potential of HLA-based iPS banking for the Saudi population. Methods: In this study, we interrogated the HLA database of the Saudi Stem Cell Donor Registry (SSCDR), containing high-resolution HLA genotype data from 64,315 registered Saudi donors at the time of analysis. This database was considered to be a representative sample of the Saudi population. The most frequent HLA haplotypes in the Saudi population were determined, and an in-house developed iterative algorithm was used to identify their HLA matching percentages in the SSCDR database and cumulative coverage. Subsequently, to develop a clinically relevant protocol for iPSCs generation, and to illustrate the applicability of the concept of HLA-based banking for cell therapy purposes, the first HLA-based iPS cell line in Saudi Arabia was generated. Clinically relevant methods were employed to generate the two iPS clones from a homozygous donor for the most prevalent HLA haplotype in the Saudi population. The generated lines were then assessed for pluripotency markers, and their ability to differentiate into all three germ layers, beating cardiomyocytes, and neural progenitors was examined. Additionally, the genetic stability of the HLA-iPS cell lines was verified by comparing the mutational burden in the clones and the original blood sample, using whole-genome sequencing. The standards set by the American College of Medical Genetics and Genomics (ACMG) were used to determine the clinical significance of identified variants. Results: The analysis revealed that the establishment of only 13 iPSC lines would match 30% of the Saudi population, 39 lines would attain 50% coverage, and 596 lines would be necessary for over 90% coverage. The proof-of-concept HLA-iPSCs, which cover 6.1% of the Saudi population, successfully demonstrated pluripotency and the ability to differentiate into various cell types including beating cardiomyocytes and neuronal progenitors. The comprehensive genetic analysis corroborated that all identified variants in the derived iPSCs were inherently present in the original donor sample and were classified as benign according to the standards set by the ACMG. Conclusions: Our study sets a road map for introducing iPS-based cell therapy in the Kingdom of Saudi Arabia. It underscores the pragmatic approach of HLA-based iPSC banking which circumvents the limitations of autologous iPS-based cellular therapies. The successful generation and validation of iPSC lines based on the most prevalent HLA haplotype in the Saudi population signify a promising step toward broadening the accessibility and applicability of stem cell therapies and regenerative medicine in Saudi Arabia. [ABSTRACT FROM AUTHOR]

Background: The global pandemic of COVID-19 has led to unprecedented psychological stress on frontline health professionals. The objective of our study was to determine the prevalence of perceived stress and its association with having children among physicians in Al Madinah city, Saudi Arabia, during the COVID-19 pandemic. Methods: A web-based analytical cross-sectional study was conducted among the physicians working in Al-Madina, Saudi Arabia. Physicians living in Madina city were invited to participate in this survey by using an online questionnaire that consisted of socio-demographic information, and Perceived Stress Scale (PSS) 10 items questionnaire. The outcome measure was perceived stress score and levels among participants, while exposure factors were having children and the number of children of each participant. Results: Low, moderate and high levels of perceived stress were found in 39.3%, 56.4% and 4.3% of the physicians, respectively. 53.6% of those physicians who have children, had significant moderate perceived stress as compared to 93.3% of those who do not have any children (odds ratio (OR) = 0.08, 95% confidence interval (CI) 0.01–0.65, p=0.004). There was an inversed significant correlation between the number of children a participant had and the perceived stress scale score (R = −0.21, p=0.026). Conclusion: COVID-19 pandemic resulted in perceived stress among physicians in Saudi Arabia, mostly moderate level. Having children was found to be a protective factor. [ABSTRACT FROM AUTHOR]

Objective This cross-sectional study aimed to determine the rates of depression, anxiety, and stress among first-year university students in Saudi Arabia. Methods We distributed an online survey through to 861 first-year students, aged 17--25 years, at King Abdulaziz University. The survey used a validated Arabic short version of the Depression Anxiety and Stress Scales, and sociodemographic factors. Results The prevalence of depression, anxiety, and stress was 80.4%, 71.8%, and 69.3%, respectively. A plurality showed extremely severe depression and anxiety, and severe stress symptoms. The frequency of exercise was inversely related to depression, anxiety, and stress. A total of 8.2% of students had visited a psychiatrist at some point in their lives, and 40.5% of students had suicidal thoughts. Conclusions Programs to identify students suffering from mental illness and offer adequate care and support are essential. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate the outcome of testicular biopsies as well as the etiology of azoospermia and severe oligospermia in Saudi men referred for tertiary care. To correlate testicular histology with patients' clinical and hormonal profiles. Materials and Methods: Charts of men subjected to testicular biopsies in the last 10-year period were retrospectively reviewed. Relative history and physical examination findings were reported. Results of male fertility profile tests and semen analysis of at least two ejaculates were collected. Reported histopathology was obtained. Results: Reports of 229 patients were included; 199 (86.9%) with azoospermia and 30 (13.1%) with severe oligospermia. The mean (SD) age was 30.6 (6.4) years. A small right or left testis was reported in 88 (38.4%) and 87 (38%) of the patients, respectively. The mean (SD) testosterone and follicle stimulating hormone (FSH) values were 17.2 (7.2) nmol/L and 13.1 (10.9) IU/L, respectively. Hypospermatogenesis was the most common histology encountered (36.5%), followed by Sertoli cell-only (SCO) histology (31.5%). Low testicular volume (P = 0.000), high FSH (P = 0.001) and high leutenizing hormone (LH) (P = 0.001) were found to be of significantly adverse effect on spermatogenesis. Despite having bilateral small testes, high serum FSH and LH, 24.3% of our patients showed active spermatogenesis. Conclusions: Hypospermatogenesis was the most common pattern of spermatogenic defect in our patients. SCO histology was the most common pattern in patients with small testes, primary testicular failure, primary infertility and azoospermia. Low testicular volume, high FSH and LH are significantly associated with impaired spermatogenesis. Even with severe male factor infertility disorders, infertile men can have some spermatogenesis. [ABSTRACT FROM AUTHOR]

Background/Aim: Cytomegalovirus (CMV) is the most common congenital viral infection, occurring in 0.4%-2.3% of all live births. The clinical manifestations of CMV are multiorgan involvement. Currently,the numbers of studies of hepatic CMV infection in immunocompetent infants are insufficient and little information exists in the medical literature about the hepatic manifestations and complications of CMV. Patients and Methods: Nine infants diagnosed with hepatic CMV infection were included in the study. The diagnosis was based on the presence of IgM anti-CMV antibodies titer in serum and detection of CMV-DNA in blood. The authors identified clinical characteristics, biochemical characteristics, immunologic markers, and the outcome of hepatic CMV with or without treatment. Results: Jaundice was the most common clinical feature of CMV infection in infancy (100%). Hepatic abnormalities in the form of cholestasis (defined as a serum conjugated bilirubin concentration greater than 17.1 μmol/L or greater than 20% of the total serum bilirubin) were found in all patients (100%), hepatitis (77%), hypoalbuminemia (55%), elevated alkaline phosphatase, and gamma-glutamyltransferase (77%). Other findings showed hepatosplenomegaly (44%), thrombocytopenia (22%) and low birth weight (11%) The treatment of hepatic CMV infection was indicated in 66% and was not indicated in 33%. Both of them had resolved cholestasis and hepatitis. Conclusion: Jaundice and cholestasis were the most common clinical features of hepatic CMV infections. Hepatic CMV infection in young infants is often a self-limited illness that does not require antiviral therapy. Most of the patients with hepatic CMV infection had a favorable outcome. [ABSTRACT FROM AUTHOR]