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Crigler-Najjar syndrome (CNS) type I is a rare genetic disease caused by mutations in the UGT1A1 gene, resulting in a lack of Uridine 5'-diphospho-glucuronosyltransferase (UDPGT) enzyme. This enzyme is responsible for the glucuronidation and elimination of unconjugated bilirubin from the body. Here we report a two-month-old Saudi girl who presented with persistent unconjugated hyperbilirubinemia, reaching levels as high as 30 mg/dL despite ineffective phototherapy. The diagnosis was confirmed through sequencing, and the patient underwent a successful liver transplant at the age of two months. At the one-year follow-up, the patient is doing well. This case highlights the significance of early detection and appropriate management of CNS, emphasizing the need for prompt intervention to improve patient outcomes and prevent complications. While phototherapy offers some benefits, liver transplantation remains the only definitive treatment for this condition.
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[This corrects the article DOI: 10.7759/cureus.32695.].
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Background Multiple sclerosis (MS) is an immune-mediated inflammatory disease that attacks myelinated axons in the central nervous system, destroying the myelin and axon to varying degrees and producing significant physical disability. So far, many studies have found that having a high body mass index (BMI) is associated with severe autoimmune and neurodegenerative disease course. However, the impact of BMI on disease-modifying therapy (DMT) response in terms of decreasing relapses and improving overall health remains unknown. Aims and objectives The study aimed to demonstrate the effect of BMI on DMT responsiveness in patients with relapse-remitting MS at a tertiary hospital. Methods and material A single-center retrospective study was conducted at a tertiary care center in Jeddah, Saudi Arabia. The study included 89 individuals with relapsing-remitting MS who had their BMI measured within six months of their first clinical relapse, as well as their clinical response to the DMT (number of relapses on a single DMT after six months of initiation) and MRI changes (development of new T2 lesions or gadolinium-enhancing lesions on single DMT six months after DMT initiation). Results Demographic data revealed a female predominance of 71.9%, and 51.7% of the patients had a normal weight. The most commonly prescribed DMT was Gilenya at 47.2%. A significant relationship was found between BMI and the total number of clinical relapses (p=0.038), with the co-existence of a positive correlation between BMI and the number of relapses after at least six months of initiation of DMT. Additionally, MS patients who had both positive MRI changes and obesity had a significantly higher BMI mean than non-obese. Conclusion Increased BMI appeared to be associated with a lower response to DMT, as overweight patients had a worse course than normal and underweight patients. Pharmacokinetic differences are the most likely factors implicated in medication responsiveness.
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Background Globally, less than 10% of graduating medical students select pathology as a future career. Many factors were reported from different settings to influence the choice of pathology. The aim of this study was to investigate the factors that determine medical students' preferences in choosing pathology as a future career. Methods This cross-sectional study surveyed students from three governmental medical schools in Riyadh, Saudi Arabia. A self-administered questionnaire that contained demographic questions and items that addressed perceived factors that affect the choice of pathology was distributed to medical students. Collected data were analyzed using Statistical Product and Service Solutions (SPSS) Statistics for Windows, Version 25.0 (Armonk, NY: IBM Corp). A chi-square test was used to determine the association between independent variables and interest in pathology. Results Out of the 400 questionnaires distributed, 338 students completed the survey with a response rate of 84.5%. Overall, surgery (24%) and internal medicine (20%) were the most favored, specialties with only 5% of the students selecting pathology as their first choice. Patient-doctor interaction (72.2%) was perceived as the most important factor in not choosing pathology as a future career. Taking an elective course, younger age groups, and year in medical school were all significantly associated (p<0.001) with an interest in pathology. Conclusion In this study, most of the students indicated surgery and internal medicine as their first specialty choices. Only 5% of the students chose pathology as their first choice. Two-thirds of medical students perceived pathologists do not interact with patients. A significant association was found between younger age groups, enrolling for a pathology course, and having an interest in pathology.