Saudi Med J
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Case Reports Observational Study
Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis. An important cause of hypoglycemia in children.
To draw attention towards fructose-1,6-bisphosphatase (FBPase) deficiency as an important cause of hypoglycemia and lactic acidosis and to implement preventive strategies. Methods: This observational, cross-sectional study was conducted on 7 Saudi patients with genetically confirmed FBPase deficiency from 2008 to 2018 at Prince Sultan Military Medical City, Riyadh, Saudi Arabia. Results: Participants ranged in age from 1-10 years, and all presented with recurrent hypoglycemia. All but one had associated severe metabolic acidosis, and 3 patients (42.9%) presented with hypoglycemia and severe acidosis since birth. ⋯ All patients have homozygous variants in the FBP1 gene. Conclusion: Fructose-1,6-bisphosphatase is an important cause of hypoglycemia and acidosis; therefore, it is important to offer early molecular diagnostics in any child presenting with these symptoms. Molecular diagnostics should always be undertaken to confirm the diagnosis and for further preventive strategies.
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To study the prevalence of functional gastrointestinal disorders (FGID) in Saudi patients with irritable bowel syndrome (IBS). Methods: A cross-sectional study was conducted in patients with IBS treated at a private tertiary medical center in western Saudi Arabia between 2013 and 2017. We used ROME 3 criteria with data from the Generalized Anxiety Disorder 7-item (GAD-7) scale, the Patient Health Questionnaire-9 (PHQ-9) depression scale, and International Classification of Headache Disorders (ICHD) to assess the prevalence of psychosomatic illness. ⋯ This coexistence of illness is partly explained by the functional nature of these illnesses. Collective efforts to provide multidisciplinary care is needed for these patients.
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To identify pulmonary tuberculosis (PTB) delayed inpatient diagnosis duration and contributing factors in an academic center in Saudi Arabia (SA). ⋯ Physicians in SA need to have a low threshold for PTB consideration in elderly patients or those with a history of malignancy. A careful review of the initial chest x-ray might help to overcome missing cases of PTB.
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To determine the risk factors for the development of anorectal malformations (ARM). Methods: This case-control study was conducted in the Maternity and Children Hospital (MCH), Al Madinah Al Munnawarah, Saudi Arabia. The sample was taken from the ARM cases admitted at MCH between January 2013 and December 2017. The controls were selected from well-baby clinics in primary health care centers. ⋯ Descriptive, univariate, and multivariate logistic regression were used in the analysis. Results: The study included 48 cases and 96 controls with 31 (64.6%) cases of isolated ARM and 17 (35.4%) cases of associated ARM. Among the ARM cases, 27 (56.3%) were males and 21 (43.8%) were females. In multivariate analysis, we found consanguinity to be associated with an increased risk of developing ARM with odds ratio (OR): 2.43, 95% CI: 1.12-5, and p=0.025, in addition to maternal obesity, with OR: 4.36, 95% CI: 1.2-15.8, and p=0.025. Conclusion: Consanguinity and maternal obesity (body mass index more than 30) were found to be risk factors for ARM development.
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There has been substantial changes to the methods of thyroid nodule management in the past decade, including new guidelines for performing thyroid ultrasound and biopsy. Genetic tests are now routinely used in some centers to aid in the diagnosis of thyroid nodules. ⋯ Considering the continuous increase in access to healthcare facilities in Saudi Arabia, we are expecting an upcoming epidemic of small incidentally detected thyroid nodules. This study highlights the major recent advancements in thyroid nodule management that are relevant to every Saudi physician and surgeon.