Mutational landscape of phenylketonuria in Iran.

To date more than 1000 different variants in the PAH gene have been identified in patients with phenylketonuria (PKU). In Iran, several studies have been performed to investigate the genetics bases of the PKU in different parts of the country. In this study, we have analysed and present an update of the mutational landscape of the PAH gene as well as the population genetics and frequencies of detected variants for each cohort. Published articles on PKU mutations in Iran were identified through a comprehensive PubMed, Google Scholar, Web of Science (ISI), SCOPUS, Elsevier, Wiley Online Library and SID literature search using the terms: "phenylketonuria", "hyperphenylalaninemia", and "PKU" in combination with "Iran", "Iranian population", "mutation analysis", and "Molecular genetics". Among the literature-related to genetics of PKU, 18 studies were on the PKU mutations. According to these studies, in different populations of Iran 1497 patients were included for mutation detection that resulted in detection of 129 different mutations. Results of genetic analysis of the different cohorts of Iranian PKU patients show that the most prevalent mutation in Iran is the pathogenic splice variant c.1066-11G > A, occurring in 19.54% of alleles in the cohort. Four other common mutations were p.Arg261Gln, p.Pro281Leu, c.168 + 5G > C and p.Arg243Ter (8.18%, 6.45%, 5.88% and 3.7%, respectively). One notable feature of the studied populations is its high rate of consanguineous marriages. Considering this feature, determining the prevalent PKU mutations could be advantageous for designing screening and diagnostic panels in Iran.

Single versus Double Intrauterine Insemination in Controlled Ovarian Hyperstimulation Cycles: A Randomized Trial.

BACKGROUND: There are many factors that affect intrauterine insemination (IUI) success rate and identifying those factors can be helpful. This study aimed to investigate the single versus double IUI in controlled ovarian hyperstimulation cycles. METHODS: This is a randomized clinical trial with equal randomization (1:1) conducted on 580 women who underwent IUI in a private infertility clinic from May 2013 to November 2014 in Rasht, Iran. Women were randomly assigned to single (n = 290) or double (n = 290) IUI groups. Women in the single group underwent IUI performed 36 hours after human chorionic gonadotropin (HCG) administration. Women in the double group underwent two IUIs performed 18 and 40 hours after HCG administration. The main outcome was clinical pregnancy confirmed by evidence of fetal cardiac activity. Data were analyzed by SPSS software. Comparisons of frequencies were done using the Fisher exact test and Chi-square test. For comparing means between the two groups, the independent t-test was used. The P-value < 0.05 was considered to indicate statistical significance. RESULTS: Pregnancy rate was 11.7% (34/290) in the single IUI group and 13.4% (39/249) in the double IUI group. The difference between the two groups was not statistically significant (P = 0.617, OR = 1.17, 95% CI: 0.72 - 1.91). Also, we could not show significant difference between single and double IUI groups in different cause of infertility groups regarding the success rate. CONCLUSION: Based on findings, double versus single IUI did not increase the pregnancy rate of IUI and further investigations are recommended.