Three novel mutations in Iranian patients with Tay-Sachs disease

Tay-Sachs disease [TSD], or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A [HEXA], resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutations in an Iranian population. In this study, we examined 31 patients for TSD-causing mutations using PCR, followed by restriction enzyme digestion. Molecular genetics analysis of DNA from 23 patients of TSD revealed mutations that has been previously reported, including four-base duplications c.1274_1277dupTATC in exon 11 and IVS2+1G>A, deletion TTAGGCAAGGGC in exon 10 as well as a few novel mutations, including C331G, which altered Gln>Glu in HEXB, A>G, T>C, and p.R510X in exon 14, which predicted a termination codon or nonsense mutation. In conclusion, with the discovery of these novel mutations, the genotypic spectrum of Iranian patients with TSD disease has been extended and could facilitate definition of disease-related mutations

[Comparing the therapeutic effects of spirinolactone plus cyproterone compound with metformin's on polycystic ovarian syndrome]

Polycystic ovarian disease is one of the most common causes of hirsutism, irregular menstruation, obesity, anovulation or infertility in women. More than 50% of these women become obese and 1/3 of them diabetic at a time throughout the life. Metformin is useful to improve the insulin resistance, hirsutism and oligomenorrhea of PCOS patients. Administrating spirinolactone as an androgen antagonist in conjunction with a contraceptive pill such as Cyproterone compound [Dian] may also be effective to treat the sings and complaints of the patients. To compare the efficacy of spirinolactone with cyproterone compound vs. metformin on PCOS. This study was performed on 113 women, 20 to 30 years old, diagnosed to have PCOS, visited in Imam Hosein and Loghman outpatient clinics during three years. They came with complaints such as obesity hirsutism oligomenorrhea or amenorrhea Metformin is effective in improving obesity, hirsutism and oligomenorrhea of obese PCOS patient [regardless of their insulin resistance] [P< 0.005]. Metormin is more effective to reduce the body weight in obese women than those two [P< 0.05], on the other hand it has a limited effect on the hirsutism and oligomenorrhea of non-obese PCOS patients. Spirinolactone in conjunction with Dian is effective in improving the hirsutism, obesity and oligomenorrhea of the obese [regardless of their insulin resistance] [p< 0. 05] and non-obese patients [p< 0.005]. Metformin is more effective than Spirinolactone together with Dian on weight reduction in obese PCOS [p< 0.005], and Spirinolactone together with Dian is more effective on hirsutism and oligomenorrhea of non-obese patients than Metformin alone [p< 0.05]. Metoformin is effective to treat the obesity, hirsutism, and oligomenorrhea of the obese women and the combination of spirinolactone and cyproterone compound is more effective to treat hirsutism and oligomenorrhea in non-obese women with PCOS

Penile agenesis: report on 8 cases and review of literature

Penile agenesis [PA] is an extremely rare anomaly with profound urological and psychological consequences. The opening of the urethra could be either over the pubis or at any point on perineum or most frequently in anterior wall of the rectum. The aim of treatment is an early female gender assignment and feminizing reconstruction of the perineum. We report 8 cases of penile agenesis with urination and defecation through the rectum, apparently normal scrotum, bilateral descended testis, normally located anus, urethral opening in anus, 46xy karyotype and associated anomalies. In 2 cases parents refused any surgical interventions, but in 6 cases we did perform different operations [transforming five cases to females and one case to male gender]. We recommend feminizing operations in newborns or infants, but in older patients, regarding the child's psychology, it is advised to perform masculinizing operations, and finally, no surgical intervention should be undertaken before counseling the parents