Role of ABCB1 C3435T variant in response to antiepileptic drugs in epilepsy: a review

Over-expression of P-glycoprotein (P-gp), the encoded product of the ATP-binding cassette (ABC), sub-family B, member 1 (ABCB1/MDR1) gene, plays an important role in mediating multidrug resistance to antiepileptic drugs (AEDs) in about 30 of patients with epilepsy. Genetic variation may in part explain inter-individual differences in phenotype-genotype relationships in the pharmacological response of epilepsy patients to AEDs. The synonymous C3435T polymorphism is one of the most common allelic variants in the ABCB1/MDR1 gene, proposed in the causation of refractory epilepsy. Many studies have shown the relationship between C3435T polymorphism and refractoriness to AEDs in epilepsy. However, there is controversy between the findings of various studies, that is, whether ABCB1/MDR1 C3435T gene polymorphism is associated with response to AEDs in epilepsy patients. This review provides a background and discusses the results of investigations on possible confounding factors affecting the interpretation and implementation of association studies in this area

Is Prolonged Sitting a Risk Factor in Developing Hemorrhoids and Anal Fissures?

Background: Anal fissures and hemorrhoids are common anal conditions. They cause significant morbidity, social embarrassment, and work absenteeism. In addition, they form a significant workload on the healthcare system. Nevertheless, the etiology of these conditions is still contentious. It has been observed that hemorrhoids and anal fissures are associated with prolonged sitting. This study aims to investigate this observation.Methods: This is a case–control study. We compared 81 patients with symptomatic and endoscopically proven hemorrhoids and/or anal fissures with 162 controls with no symptoms or endoscopic evidence of perianal disease. The study was conducted at Khartoum North Teaching Hospital (KNTH) endoscopy unit between January and December 2019. Demographic data, sitting hours per day, and endoscopic findings of patients and controls were recorded in a proforma. The cases and controls were matched for age, sex, and bowel habits. Data were analyzed and compared using the SPSS version 23.Results: The mean sitting hours for cases was 5.99 (SD 3.4) whereas that for controls was 4.0 (SD 3.0) with a highly significant difference (P < 0.001). Sitting for 5 hr or more per day (exposure) was associated with an increased risk of developing hemorrhoids and/or anal fissures [odds ratio 3.68, 95% CI: 2.1–6.47].Conclusion: The study showed that sitting down for 5 hr or more per day might increase the risk of developing hemorrhoids and/or anal fissures. This finding could help in the prevention and treatment of these diseases and the reduction of recurrences

ABCB1 C3435T polymorphism and the risk of resistance to antiepileptic drugs in epilepsy: a systematic review and meta-analysis.

We failed to show an association between the ABCB1 C3435T polymorphism and the risk of drug-resistance suggesting a revision in contribution of this polymorphism in the multi-drug transporters hypothesis of pharmacoresistance to AEDs in epilepsy

Association between ABCB1 polymorphism and response to sodium valproate treatment in Malaysian epilepsy patients

Over-expression of P-glycoprotein, encoded by the ABCB1 gene, is proposed to be involved in resistance to antiepileptic drugs in about 30 of patients with epilepsy. Here, we investigated the possible association between ABCB1 polymorphisms and sodium valproate (VPA) treatment in Malaysian epilepsy patients. Genotypeswere assessed in 249 drug-resistant and 256 drug-responsive Malaysian patients for C1236T, G2677T/A, and C 5T polymorphisms in the ABCB1 gene. No genotypes, alleles, or haplotypes were associated with the response to VPA in either the overall group or Chinese, Indian, and Malay subgroups. Our data suggest that C1236T, G2677T/A, and C3435T polymorphisms in the ABCB1 gene do not contribute to the response to VPA in patients with epilepsy

Is Prolonged Sitting a Risk Factor in Developing Hemorrhoids and Anal Fissures?

Abstract Background: Anal fissures and hemorrhoids are common anal conditions. They cause significant morbidity, social embarrassment, and work absenteeism. In addition, they form a significant workload on the healthcare system. Nevertheless, the etiology of these conditions is still contentious. It has been observed that hemorrhoids and anal fissures are associated with prolonged sitting. This study aims to investigate this observation. Methods: This is a case–control study. We compared 81 patients with symptomatic and endoscopically proven hemorrhoids and/or anal fissures with 162 controls with no symptoms or endoscopic evidence of perianal disease. The study was conducted at Khartoum North Teaching Hospital (KNTH) endoscopy unit between January and December 2019.Demographic data, sitting hours per day, and endoscopic findings of patients and controls were recorded in a proforma. The cases and controls were matched for age, sex, and bowel habits. Data were analyzed and compared using the SPSS version 23. Results: The mean sitting hours for cases was 5.99 (SD 3.4) whereas that for controls was 4.0 (SD 3.0) with a highly significant difference (P < 0.001). Sitting for 5 hr or more per day (exposure) was associated with an increased risk of developing hemorrhoids and/or anal fissures [odds ratio 3.68, 95% CI: 2.1–6.47]. Conclusion: The study showed that sitting down for 5 hr or more per day might increase the risk of developing hemorrhoids and/or anal fissures. This finding could help in the prevention and treatment of these diseases and the reduction of recurrences