Phenotypic and Molecular Spectrum of Guanidinoacetate N-Methyltransferase Deficiency: An Analytical Study of a Case Series and a Scoping Review of 53 Cases of Guanidinoacetate N-Methyltransferase.

Background: Guanidinoacetate methyltransferase deficiency (GAMT) is an autosomal recessive inborn error of metabolism. A condition that results from a pathogenic variant in the GAMT gene that maps to 19p13.3. The prevalence can be estimated to be up to 1:2,640,000 cases; countries such as Saudi Arabia could have a higher prevalence due to high consanguinity rates. The clinical manifestations that a patient could obtain are broad and start to manifest in the patients' early childhood years. Materials and Methods: A thorough review of case reports in January 2022 was conducted. The retrieved literature was screened for demographic data. Patients of all ages were included. Qualitative variables were described as number and percentage (%), and quantitative data were described by the mean and standard deviation. In bivariate data, Chi-square test (χ2) was used and t-test for nonparametric variables. Results: Gender distribution was 53% of males and 47% females. Reported age ranged from 8 to 31 months. At the age of onset, 50% of the cases were infants, 28% were toddlers, and 15% were children, concluding that 79% of the reported cases developed symptoms before 5 years old. 68% of the cases developed generalized seizures throughout their life. 84% of the cases expressed a form of developmental delay. 43% of the cases had intellectual disabilities and mental retardation that affected their learning process; most cases required special care. 23% of the affected cases were of consanguineous marriages, and 7% had affected relatives. Conclusion: We described four novel case reports, the first to be reported in Saudi Arabia. Seizure was a leading finding in the majority of the cases. Developmental delay was broadly observed. Intellectual delay and language impairments are primary hallmarks. Further understanding and early diagnosis are recommended. Premarital testing of neurogenetic diseases using whole-exome sequencing is probably a future direction, especially in populations with high consanguinity rates.

The determining factors of medical students in considering a specialty as a future career path: A cross-sectional multinational study in the Middle East.

Background and Aims: Throughout their years of study, undergraduate medical students are expected to gain broad comprehension of all medical specialties. After acquiring an undergraduate degree, the decision to choose a specialty is critical for every student's life as it determines the rest of their career path. This study aims to determine factors influencing medical students' choices between various specialties in different countries in the Middle East and North Africa. Subjects and Methods: A cross-sectional study was conducted in March 2022 targeting medical students from the Middle East and North African countries. A questionnaire was used to collect data from the students, which consisted of four sections. Ethical approval was obtained from the Unit of Biomedical Ethics Research Committee at King Abdulaziz University. Participation was voluntary and anonymous. For statistical analysis, IBM Statistical Package for the Social Sciences (SPSS) Statistics for Windows (Version 21.0; IBM Corp., Armonk, NY, USA) was used. Categorical variables were presented using numbers, associated frequencies, and percentages (%). Categorical variables were correlated using the Chi-square test. One-way analysis of variance (ANOVA) test was used to compare the means of three or more independent groups. Logistic regression, odds ratio (OR), and 95% confidence interval (CI) were used to identify the factors associated with specialty selection. P < 0.05 was considered statistically significant. Results: A total of 1109 students responded to the questionnaire. Participants' gender characteristics showed that there were 672 (60.6%) females and 437 (39.4%) males. Among them, 127 were in their second year, 180 in their third year, 362 in their fourth year, 85 in their fifth year, 37 in their sixth year, and 108 were interns. The median age of the participants was 22.0 years (mean = 22.09 ± 2.891). There were 473 (42.6%) students who were undecided about their future medical specialty. Income (759, 68.4%) and career prospects (723, 65.2%) were the most preferred factors in their decision to pursue a future medical specialization. Conclusions: In conclusion, medical and surgical specialties have been identified as the preferred future career path. It was discovered that student's decision-making is influenced by income, career prospects, and the sense of competency needed to choose a future medical specialty. Future research would be more revealing.

Impact of Early Nephrology Referral on the Outcomes of Patients with Acute Kidney Injury.

Background: Acute kidney injury (AKI) is associated with an increase in patient mortality and high rates of renal/non-renal complications. Late detection of the disease has been associated with worse prognosis, but no such study has been conducted from Saudi Arabia. Objectives: To assess the impact of early nephrology referral on the outcomes of patients with AKI. Methods: This retrospective record review included all adult patients (≥18 years) with AKI who were referred to the Nephrology Department at King Abdulaziz University Hospital, Jeddah, Saudi Arabia, between May 2019 and July 2020. AKI was defined according to the Kidney Disease Improving Global Outcomes criteria. AKI patients evaluated by nephrologists were stratified into early referral group (i.e., referral in <48 h from the first detection of AKI) and late referral group (referral ≥48 h after the first detection of AKI). Results: A total of 400 patients met the inclusion criteria, of which 264 (66%) were early referrals. A significant association was found between delayed referral and mortality rates and length of hospital stay (for both,P= 0.001). Late referral was also significantly associated with increased likeliness of the need for renal replacement therapy (P = 0.037) and sepsis (P = 0.005). Conclusions: The outcomes were worse for patients with AKI receiving late referrals to nephrologists. Raising the awareness of AKI among non-nephrologists would likely increase the proportion of earlier referrals.

Histopathological and Clinical Findings of Biopsy-Proven Focal and Segmental Glomerulosclerosis: A Retrospective Study.

Background Focal segmental glomerulosclerosis (FSGS) is characterized by the presence of glomerular damage on histopathological examination. The major defining symptom of FSGS is proteinuria, which indicates damage to the glomerular filtration barrier. Additionally, FSGS is the most common cause of primary nephrotic syndrome. However, in Saudi Arabia, there is a paucity of research on this topic. Therefore, this study was designed to examine the clinical features, laboratory findings, and presence of comorbidities in patients with FSGS to determine their effects on clinical outcomes. Methods We retrospectively analyzed the histopathological and clinical data of patients diagnosed with FSGS via biopsy at King Abdulaziz University Hospital, Jeddah, Saudi Arabia, during the period 1989-2020. Biopsy samples were labeled according to the Columbia classification as tip, perihilar, cellular, collapsing, or not otherwise specified (NOS). Results We included 39 children and 21 adults. Males accounted for 54.1% of the sample. Hypertension was the most common comorbidity. Regarding FSGS subtypes, 60.9% of the lesions in the adult patients were collapsing lesions, followed by NOS (26.1%). In pediatric patients, 36.8% of the lesions were NOS, followed by collapsing lesions (28.9%). We also observed a very low rate of remission. In both age groups, the most common clinical presentation was nephrotic syndrome. Conclusion We found a high prevalence of collapsing and NOS FSGS subtypes in both the adult and pediatric age groups. The most prevalent outcome was the persistence of nephrotic syndrome with low rates of remission.