Lactose Intolerance (LCT-13910C>T) Genotype Is Associated with Plasma 25-Hydroxyvitamin D Concentrations in Caucasians: A Mendelian Randomization Study.

Background: The LCT-13910C>T gene variant is associated with lactose intolerance (LI) in different ethnic groups. Individuals with LI often limit or avoid dairy consumption, a major dietary source of vitamin D in North America, which may lead to inadequate vitamin D intake.Objective: The objective was to determine the prevalence of genotypes predictive of LI in different ethnic groups living in Canada and to determine whether the LCT genotype is associated with plasma 25(OH)D concentrations.Methods: Blood samples were drawn from a total of 1495 men and women aged 20-29 y from the Toronto Nutrigenomics and Health Study for genotyping and plasma 25(OH)D analysis. Intakes of dairy were assessed by using a 196-item food frequency questionnaire. The prevalence of LCT-13910C>T genotypes was compared by using χ2 analysis. Using a Mendelian randomization approach, we examined the association between LCT genotypes and 25(OH)D concentrations.Results: Approximately 32% of Caucasians, 99% of East Asians, 74% of South Asians, and 59% of those with other or mixed ethnicities had the CC genotype associated with LI. Compared with those with the TT genotype, those with the CC genotype had a lower mean ± SE total dairy intake (2.15 ± 0.09 compared with 2.67 ± 0.12 servings/d, P = 0.003), a lower skim-milk intake (0.20 ± 0.03 compared with 0.46 ± 0.06 servings/d, P = 0.0004), and a lower plasma 25(OH)D concentration (63 ± 1.9 compared with 75.8 ± 2.4 nmol/L, P < 0.0001). The CT and CC genotypes were associated with a 50% and a 2-fold increased risk, respectively, of a suboptimal plasma 25(OH)D concentration (<75 nmol/L).Conclusions: In Caucasians, the CC genotype that predicts LI is associated with a lower plasma 25(OH)D concentration, which is attributable at least in part to a lower intake of dairy, particularly skim milk. Increased risk of suboptimal concentrations of vitamin D was also observed among those with the CT genotype, suggesting an intermediate effect of the heterozygous genotype.

The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature.

Dihydropyrimidinase (DHP) deficiency is an autosomal recessive metabolic disorder caused by biallelic pathogenic variants of DPYS Patients with DHP deficiency exhibit a broad spectrum of phenotypes, ranging from severe neurological and gastrointestinal involvement to cases with no apparent symptoms. The biochemical diagnosis of DHP deficiency is based on the detection of a significant amount of dihydropyrimidines in urine, plasma, and cerebrospinal fluid samples. Molecular genetic testing, specifically the identification of biallelic pathogenic variants in DPYS, has proven instrumental in confirming the diagnosis and facilitating family studies. This case study documents the diagnostic journey of an 18-yr-old patient with DHP deficiency, highlighting features at the severe end of the clinical spectrum. Notably, our patient exhibited previously unreported skeletal features that positively responded to bisphosphonate treatment, contributing valuable insights to the clinical characterization of DHP deficiency. Additionally, a novel DPYS variant was identified and confirmed pathogenicity through metabolic testing, further expanding the variant spectrum of the gene. Our case emphasizes the importance of a comprehensive diagnostic approach using genetic sequencing and metabolic testing for accurate diagnosis.

The Impact of Irregular Menstruation on Health: A Review of the Literature.

Women are considered to have an irregular menstrual cycle if their cycle length is less than 21 days or more than 35 days, accompanied by less or very severe blood flow. The prevalence of menstrual cycle irregularities varies across countries. Irregular periods can occur due to changes in the body's levels of estrogen and progesterone hormones, which disrupt the normal pattern of the period. Menstrual irregularity has been found to be associated with various diseases and medical conditions, such as metabolic syndrome, coronary heart disease, type 2 diabetes mellitus, and rheumatoid arthritis. Anemia, osteoporosis, psychological problems, impaired quality of life, and infertility have also been recorded. Moreover, a significant correlation between irregular periods and the risk of developing pregnancy-related hypertensive disorders, as well as an increased risk of adverse obstetric and neonatal outcomes, has been proven. Therefore, irregular menstruation is considered an important health indicator among women. Physical, mental, social, psychological, and reproductive problems are often associated with menstrual irregularities. Thus, evaluating the factors associated with irregular menstruation is necessary to determine appropriate preventive and treatment strategies and to decrease the associated health problems. The aim of this review was to define normal and irregular menstruation, their types, and prevalence, to recognize the risk factors and causes of irregular menstruation, and to understand their impact on women's health.

Social Media Usage and Academic Performance Among Medical Students in Medina, Saudi Arabia.

Background: Social media are websites and applications enabling users to create or share content and communicate. The widespread use of social media among university students and easy access during class and study time raises concern about its impact on academic performance. This study aims to determine the impact of social media usage, addiction, and exposure on students' academic performance. Methods: An online cross-sectional study was conducted using convenience sampling among undergraduate medical students in Medina, KSA during the academic year 2021/2022. We used the chi-square and fisher's exact tests to determine the impact of social media usage on academic performance. Results: 842 medical students participated in our study. 57.1% were females, 24.8% were in the 5th academic year, and 56.5% had a Grade Point Average (GPA) in the range of 4.5 to 5. Moreover, 26.1% of the students use social networking sites for 3-4 hours, and males are more addicted to social media than females. Our results showed that students with excellent GPAs (GPA ≥ 4.5) are less likely to be addicted to social media networks (54.8%), and they perceive that using social media is not helping to improve their grades compared to other students. Also, showed that those who are addicted to social media benefit from the use of social media to improve their grades. There is no significant difference between genders in social media usage as if it helps them improve their grades. Moreover, no difference between the academic years in addiction and usage of social media. Conclusion: This study has revealed that students with higher levels were less addicted to social media, and those who are addicted benefit from using social media to improve their grades. We call for using social media as a supporting tool for academic performance and achievement among university students.

Physicians' Knowledge, Attitudes and Barriers Regarding Chronic Kidney Disease Diagnosis and Management in Saudi Arabia.

BACKGROUND: Chronic kidney disease (CKD) is defined as abnormalities of kidney structure and/or function persisting for a minimum of three months. METHODS:  An online cross-sectional study was conducted in the Kingdom of Saudi Arabia (KSA) between June and August 2022 to assess the knowledge, attitudes, practices, and barriers among family, internal medicine, and general physicians related to CKD screening, diagnosis, and management. RESULTS:  A total of 427 physicians were included in the study. The majority exhibited a strong grasp of the accurate definition of CKD (83%) and recognized common risk factors, such as diabetes (99%), drugs (95%), and hypertension (98%). Two-thirds of physicians were aware of the five stages of CKD and identified estimated glomerular filtration rate (eGFR) and creatinine clearance as the most suitable markers for kidney function. Physicians also displayed knowledge of CKD-related complications. However, a noticeable gap between knowledge and practice was evident. Only one-third of participants reported screening their patients every year, primarily using serum creatinine (92.5%) and eGFR (97%) for diagnosis, while only 16% recognized that stage 4 CKD is the appropriate time to refer patients to nephrologists. In terms of barriers, the majority of physicians reported encountering low barriers to CKD management, but general practitioners working in primary healthcare centers experienced significantly higher levels of barriers. CONCLUSION: Most participants in our study possess a good level of knowledge and positive attitudes towards CKD diagnosis and management. Nevertheless, a discrepancy between knowledge and practical application, particularly in terms of over-screening and early referral, highlights the need for educational efforts to improve physician practice in KSA. These findings underscore the importance of addressing this gap to promote effective CKD management.

The Novel Membrane-Associated Auxiliary Factors AuxA and AuxB Modulate ß-lactam Resistance in MRSA by stabilizing Lipoteichoic Acids.

A major determinant of ß-lactam resistance in methicillin-resistant Staphylococcus aureus (MRSA) is the drug insensitive transpeptidase, PBP2a, encoded by mecA. Full expression of the resistance phenotype requires auxiliary factors. Two such factors, auxiliary factor A (auxA, SAUSA300_0980) and B (auxB, SAUSA300_1003), were identified in a screen against mutants with increased susceptibility to ß-lactams in the MRSA strain, JE2. auxA and auxB encode transmembrane proteins, with AuxA predicted to be a transporter. Inactivation of auxA or auxB enhanced ß-lactam susceptibility in community-, hospital- and livestock-associated MRSA strains without affecting PBP2a expression, peptidoglycan cross-linking or wall teichoic acid synthesis. Both mutants displayed increased susceptibility to inhibitors of lipoteichoic acid (LTA) synthesis and alanylation pathways and released LTA even in the absence of ß-lactams. The ß-lactam susceptibility of the aux mutants was suppressed by mutations inactivating gdpP, which was previously found to allow growth of mutants lacking the lipoteichoic synthase enzyme, LtaS. Using the Galleria mellonella infection model, enhanced survival of larvae inoculated with either auxA or auxB mutants was observed compared with the wild-type strain following treatment with amoxicillin. These results indicate that AuxA and AuxB are central for LTA stability and potential inhibitors can be tools to re-sensitize MRSA strains to ß-lactams and combat MRSA infections.