MATERIALS AND METHODS: We conducted a non-randomized quasi-experimental study (prospective) between 2 groups, those who underwent surgery with the control group. In this study, the resolution of erectile dysfunction following bariatric surgery comparing with the control group was evaluated in terms of International Index of Erectile Function (IIEF) score. IIEF score is taken by delivering validated questionnaire to participants that enrolled in this study, both the control and intervention group.
RESULTS: A total of 25 patients were included in this study, 13 from the intervention group and 12 from the control group. From our study, we evaluated the resolution of IIEF score in both groups. We found that the resolution of erectile function is statistically significant in the intervention group compared to control group. Spearman rank correlation (rs) test was performed to identify the correlation between age and IIEF score.
CONCLUSION: Statistically significant improvements in erectile function were found following bariatric surgery. This is evidenced by the improvements in the IIEF score post-surgery compared to control group.
METHODS: In order to determine the prevalence and distribution of SMPD1 gene mutations, the genomic DNA of 15 unrelated Iranian patients with types A and B NPD was examined using PCR, DNA sequencing and bioinformatics analysis.
RESULTS: Of 8 patients with the p.G508R mutation, 5 patients were homozygous, while the other 3 were heterozygous. One patient was heterozygous for both the p.N385K and p.G508R mutations. Another patient was heterozygous for both the p.A487V and p.G508R mutations. Two patients (one homozygous and one heterozygous) showed the p.V36A mutation. One patient was homozygous for the c.1033-1034insT mutation. One patient was homozygous for the c.573delT mutation, and 1 patient was homozygous for the c.1417-1418delCT mutation. Additionally, bioinformatics analysis indicated that two new p.V36A and p.N385K mutations decreased the acid sphingomyelinase (ASM) protein stability, which might be evidence to suggest the pathogenicity of these mutations.
CONCLUSION: with detection of these new mutations, the genotypic spectrum of types A and B NPD is extended, facilitating the definition of disease-related mutations. However, more research is essential to confirm the pathogenic effect of these mutations.