CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes

The mutation spectrum of CYP1B1 among 104 primary congenital glaucoma patients of the genetically heterogeneous Iranian population was investigated by sequencing. We also determined intragenic single nucleotide polymorphism (SNP) haplotypes associated with the mutations and compared these with haplotypes of other populations. Finally, the frequency distribution of the haplotypes was compared among primary congenital glaucoma patients with and without CYP1B1 mutations and normal controls. Genotype classification of six high-frequency SNPs was performed using the PHASE 2.0 software. CYP1B1 mutations in the Iranian patients were very heterogeneous. Nineteen nonconservative mutations associated with disease, and 10 variations not associated with disease were identified. Ten mutations and three variations not associated with disease were novel. The 13 novel variations make a notable contribution to the approximately 70 known variations in the gene. CYP1B1 mutations were identified in 70% of the patients. The four most common mutations were G61E, R368H, R390H, and R469W, which together constituted 76.2% of the CYP1B1 mutated alleles found. Six unique core SNP haplotypes were identified, four of which were common to the patients with and without CYP1B1 mutations and controls studied. Three SNP blocks determined the haplotypes. Comparison of haplotypes with those of other populations suggests a common origin for many of the mutations.     

Association between race and oncologic outcome following radical prostatectomy for clinically organ-confined prostate cancer: a long-term follow-up study

Purpose

Few studies have evaluated prostate cancer oncologic outcomes in different ethnic groups following radical prostatectomy for clinically organ-confined disease. Existing studies lack long-term outcome data. We conducted this study to assess the impact of racial differences on risk profile and oncologic outcomes in a large cohort of patients with prostate cancer who underwent radical prostatectomy.

Methods

Using our institutional review board-approved prostate cancer database, we retrospectively reviewed the records of 3437 patients who underwent radical prostatectomy with curative intent in our institution between 1987 and 2009. Based on ethnicity, patients were divided into Asian Americans (n?=?133), African Americans (n?=?155) and Caucasians (n?=?3149). Baseline characteristics and oncologic outcomes including biochemical recurrence free, clinical recurrence free and overall survival were compared between the study groups.

Results

A total of 3437 patients with a mean age of 63?±?9.8 years and median follow-up period of 8.7 (range 0.1–24.1) years were included in the analysis. Pathologic stage and the frequency of poorly differentiated cancer were higher in Asian Americans; however, margin status did not differ significantly. Moreover, oncologic outcomes were comparable between different ethnic groups. In multivariate analysis, both pathologic stage and grade were independent predictors of oncologic outcomes, but race was not.

Conclusions

In this large, ethnically diverse long-term follow-up study, we noted that Asian Americans compared to African Americans and Caucasians are more likely to have high risk prostate cancer; however, race was not an independent predictor of oncologic outcome following radical prostatectomy with curative intent.

     

An epidemiological survey of psychiatric disorders in Iran

Background

The nation-wide epidemiological survey of psychiatric disorders in term of lifetime prevalence is not adequately known in Iran. The prevalence of lifetime psychiatric disorders was estimated among the population of aged 18 and over on gender, age group, educational level, occupational status, marital status, and residential area.

Methods

The subjects were 25,180 individuals selected through a clustered random sampling method. The psychiatric disorders were diagnosed on the bases of Diagnostic and Statistical Manual of Mental Disorders-IV criteria. It is the first study in which the structured psychiatric interview administered to a representative sample of the Iranian population age 18 and over by the 250 trained clinical psychologist interviewers. The data was entered through EPI-Info software twice in an attempt to prevent any errors and SPSS-11 statistical software was also used for analyses. The odds ratios and their confidence intervals estimated by using logistic regression.

Results and Discussion

The prevalence of psychiatric disorders was 10.81%. It was more common among females than males (14.34% vs. 7.34%, P < 0.001). The prevalence of anxiety and mood disorders were 8.35% and 4.29% respectively. The prevalence of psychotic disorders was 0.89%; neuro-cognitive disorders, 2.78% and dissociative disorders, 0.77%. Among mood disorders, major depressive disorder (2.98%) and among anxiety disorders, phobic disorder (2.05%) had the higher prevalence. The prevalence of psychiatric disorders among divorced and separated 22.31%; residents of urban areas 11.77%; illiterates 13.80%; householders 15.48%; unemployed 12.33% that were more than other groups.

Conclusion

The mental health pattern in Iran is similar to the western countries, but it seems that the prevalence of psychiatric disorders in Iran may be lower than these countries.It is estimated that at least about 7 millions of Iranian population suffer from one or more of the psychiatric disorders. It shows the importance of the role of the psychiatric disorders in providing preventive and management programs in Iran.

     

Efficacy of Human Adipose Tissue-Derived Stem Cells on Neonatal Bilirubin Encephalopathy in Rats

Kernicterus is a neurological syndrome associated with indirect bilirubin accumulation and damages to the basal ganglia, cerebellum and brain stem nuclei particularly the cochlear nucleus. To mimic haemolysis in a rat model such that it was similar to what is observed in a preterm human, we injected phenylhydrazine in 7-day-old rats to induce haemolysis and then infused sulfisoxazole into the same rats at day 9 to block bilirubin binding sites in the albumin. We have investigated the effectiveness of human adiposity-derived stem cells as a therapeutic paradigm for perinatal neuronal repair in a kernicterus animal model. The level of total bilirubin, indirect bilirubin, brain bilirubin and brain iron was significantly increased in the modelling group. There was a significant decreased in all severity levels of the auditory brainstem response test in the two modelling group. Akinesia, bradykinesia and slip were significantly declined in the experience group. Apoptosis in basal ganglia and cerebellum were significantly decreased in the stem cell-treated group in comparison to the vehicle group. All severity levels of the auditory brainstem response tests were significantly decreased in 2-month-old rats. Transplantation results in the substantial alleviation of walking impairment, apoptosis and auditory dysfunction. This study provides important information for the development of therapeutic strategies using human adiposity-derived stem cells in prenatal brain damage to reduce potential sensori motor deficit.     

Analysis of hospital blood components wastage in Iran (2005-2015)

Back ground

Although blood components are precious resources, their wastage is still a problem in hospitals all over the world. As no comprehensive study has evaluated hospital wastage in Iran, the main aim of the study was to identify the wastage as a percentage of issue during 2005–2015 and the secondary objective was to focus on the reasons of the blood components wastage.