RESUMEN
Background: The exact nature of the association between metabolic syndrome (MetS) and lower urinary tract symptoms (LUTS) is still not completely understood. There appears to be support for the hypothesis that metabolic and pathological derangements characterizing MetS can promote the development and progression of Benign Prostatic Enlargement and LUTS. Methods: A total of 212 patients were included in the study, of whom 106 (50%) had LUTS and metabolic syndrome and 106 (50%) had LUTS without metabolic syndrome. The severity of the patient抯 lower urinary tract symptoms was assessed by the International Prostate Symptom Score (IPSS). Erectile function was assessed by a 5 question International Index of Erectile Function (IIEF) Questionnaire. MetS was defined according to the National Cholesterol Education Program-Adult Treatment Panel III (NCEP-ATPIII). Results: The study showed a statistically significant association between prostate volume, IPSS score, and each individual component of metabolic syndrome. There is a significant association between metabolic syndrome and sexual dysfunction in men, and the severity of lower urinary tract symptoms is correlated with the severity of erectile dysfunction in the age group in the department of urology. Conclusions: Patients with MetS, characterized by increased waist circumference, BMI, triglycerides, and decreased HDL levels, exhibited more severe Lower urinary tract symptoms, along with heightened sexual dysfunction, particularly erectile and ejaculatory dysfunction.
RESUMEN
Spinal muscular atrophy has been classified into four groups based on the age of onset and clinical severity of the disease. Homozygous deletion in SMN1 gene causes the disease but the clinical severity may be modified by copy number of homologous gene SMN2 as well as the extent of deletion at SMN locus. In the view of scarcity of genotype and phenotype correlation data from India, this study has been undertaken to determine that correlation in SMA patients by using the SMN and NAIP genes and two polymorphic markers C212 and C272 located in this region. Two to four alleles of the markers C212 and C272 were observed in normal individuals. However, majority of Type I patients showed only one allele from both markers whereas in Type II and III patients, 2-3 alleles were observed. The SMN2 copy number in our type III patients showed that patients carry 3-5 copies of SMN2 gene. Our results suggest that extent of deletions encompassing H4F5, SMN1, NAIP and copy number of SMN2 gene can modify the SMA phenotype, thus accounting for the different clinical subtypes of the disease.