A novel missense mutation (c.1006C>T) of SPG20 gene associated with Troyer syndrome.

The number of gene mutations involved in the hereditary spastic paraplegias is rapidly growing due to the expansion of the frontiers of genomic research by next-generation DNA sequencing platforms. Nevertheless, a comprehensive genetic diagnosis method remains yet unavailable for these diseases. In the current research, an 8-year-old boy with short stature and developmental delay impairment, from a nonconsanguineous family, was referred to our genetic lab. Firstly, based on the physician recommendation, the patient was evaluated by tandem mass spectrometry (MS/MS) for the quantitative examination of amino acids, and then the patient was genetically investigated by karyotype analysis and whole-exome sequencing (WES) technique. Subsequently, targeted Sanger sequencing was applied to confirm the presence of the candidate variant in all the members of the family and screening the other patients for Troyer syndrome. Analysis of inherited metabolic disorders by tandem MS/MS showed the state of all the family members as normal and also karyotyping indicated no chromosomal aberration in the patient. Further investigation by WES technique indicated a homozygous missense variant in the SPG20 gene, c.1006C[T. Targeted sequencing result of the mutation confirmed homozygote state for the affected case and a heterozygote genotype for his parents. The mutation was classified as pathogenic. Detection of novel variants especially pathogenic variantin the SPG20 gene was associated with Troyer syndrome, which encodes a multifunctional protein termed Spartin, assist in improving genotype-phenotype correlation of genetic variants and may facilitate initial diagnosis of Troyer syndrome.

Socio-Economic Status and Prevalence of Self-Reported Osteoporosis in Tehran: Results from a Large Population-Based Cross-Sectional Study (Urban HEART-2).

Osteoporosis is a widespread disease among older peoples. The aim of this study is to estimate the prevalence of self-reported osteoporosis and assessing its association with socio-economic status. A population-based cross-sectional study was conducted in Tehran, Iran in 2011. Participants were 45,990 individuals aged above 20 years from 22 urban districts. Osteoporosis was measured by self-administrative questionnaire. Wealth index was constructed using principal component analysis based on household assets. Chi-square test, chi square test for trend, and crude odds ratio were used to assess associations in univariate analysis. Multiple logistic regression utilized to estimate adjusted associations between self-reported osteoporosis and socio-economic status.The overall estimated prevalence of self-reported osteoporosis was 4% (95% CI 3.88-4.13), 1.19% in men, and 6.84% in women (P < 0.001). The prevalence increased considerably as age increased (P for trend < 0.001). In multivariable analysis, education and wealth status were negative, and smoking was positively associated with the prevalence of self-reported osteoporosis. No association was found between participants' skill levels and Townsend deprivation index with the prevalence of self-reported osteoporosis.The findings of the present study have improved understanding of the association between socioeconomic status and osteoporosis in the Iranian population. It is important to consider socioeconomic status in screening and prevention programs.

Socioeconomic status and prevalence of self-reported diabetes among adults in Tehran: results from a large population-based cross-sectional study (Urban HEART-2).

INTRODUCTION: Diabetes mellitus is an important public health challenge worldwide. The prevalence of type 2 diabetes varies across countries. The aim of this study is to estimate the prevalence of type 2 diabetes and to determine related factors including socioeconomic factors in a large random sample of Tehran population in 2011. METHODS: In this cross-sectional study, 91,814 individuals aged over 20 years were selected randomly based on a multistage, cluster sampling. All participants were interviewed by trained personnel using standard questionnaires. Prevalence and Townsend deprivation indexes were calculated. Principal component analysis (PCA) was used to construct wealth index. Logistic regression model was used in multivariate analysis. RESULTS: The estimated prevalence of self-reported diabetes was 4.98 % overall, 4.76 %in men and 5.19 % in women (P < 0.003). In multivariate analysis, age, marital status (married and divorced/widow) and BMI were positively associated with the prevalence of self-reported diabetes. Of the socioeconomic variables, educational level and wealth status were negatively and Townsend Index was positively associated with diabetes. CONCLUSION: Our study findings highlight low reported prevalence of diabetes among adults in Tehran. Subjects with low socioeconomic status (SES) had a higher prevalence of type 2 diabetes. Weight gain and obesity were the most important risk factors associated with type 2 diabetes. Wealth index and educational level were better socioeconomic indicators for presenting the inequality in diabetes prevalence in relation to Townsend deprivation index.

Dental pain and its determinants in an adult population in Tehran, Iran, Urban HEART-2.

OBJECTIVE: To assess the prevalence of dental pain in the past year among adults in Tehran-Iran, and its determinants. BASIC RESEARCH DESIGN: Cross-sectional population study. PARTICIPANTS: A sample of 20,322 adults (18-64 years old). METHODS: A questionnaire survey was conducted across the 22 districts using the multi-stage random sampling method. Data were analysed applying the complex samples method. Multiple logistic regression analysis was used to adjust the effects of other variables on the outcome variable as dental pain in the past year. RESULTS: Overall, 19,645 individuals with a mean age of 39.9 (SD=12.5) years responded. Dental pain in the past year was reported by about one sixth (14%) of subjects and associated with being widowed/divorced (OR 1.45, 95%CI 1.07-1.97, p=0.016), married (OR 1.24, 95%CI 1.04-1.47, p=0.016), Azari minority (OR 1.2, 95%CI 1.05-1.37, p=0.009) and having dental visit in the past year (OR 2.6, 95%CI 2.29-2.95,p⟨0.001). Older subjects (OR 0.76, 95%CI 0.59-0.97, p= 0.029), those with a high economic status (OR 0.84, 95%CI 0.72-0.98, p=0.03), good (OR 0.75, 95%CI 0.58-0.96, p=0.023) or moderate oral health behaviour (OR 0.79, 95%CI 0.62-0.99, p=0.042), and good self-perceived oral health (OR 0.52, 95%CI 0.45-0.61, pp⟨0.001) were less likely to report dental pain. CONCLUSIONS: Dental pain in the past year was associated with being married/widowed, being a minority, and visiting a dentist in the past year. Older subjects and those with a high socio-economic status, good/moderate oral health behaviour, and good self-perceived oral health were less likely to report dental pain.

Influence of sociodemographic features and general health on social capital: findings from a large population-based survey in Tehran, Iran (Urban-HEART).

OBJECTIVES: Social capital is associated with a number of sociodemographic characteristics and health outcomes. This study aimed to assess the components of social capital, and determine its association with different demographic features and general health in Tehran. STUDY DESIGN: A large population-based cross-sectional survey was conducted using the Urban Health Equity Assessment and Response Tool (Urban-HEART). METHOD: A comprehensive questionnaire containing 13 sections, including a specific tool to measure social capital, was administered to 22,300 randomly selected clustered sample households within all 22 districts in Tehran between June and September 2008. The social capital questionnaire consists of two main components - structural and cognitive - which measure collective activities, voluntary help, social cohesion, social network, reciprocity and trust. The first question of Short Form-12 was used to evaluate self-rated health. Descriptive statistics, contingency tables, independent sample t-test, analysis of variance, post-hoc test (least squares difference) and multiple linear regression were used to detect differences. A P-value <0.01 was considered to indicate significance. RESULTS: The social capital questionnaire and health-related quality-of-life tool were completed by 21,704 individuals (response rate 97%) in all 22 districts of Tehran. All social capital components apart from participation varied by age group and gender (P < 0.01). An improvement was seen in several social capital components with increased level of education (P < 0.01). All social capital elements apart from volunteering were associated with marital status (P < 0.01). Family size, family assets and length of residence in neighbourhood were considered to be determinants of social capital (P < 0.01), and respondents with better health showed higher levels of social capital (P < 0.0001). CONCLUSION: Various individual and household characteristics influence social capital. General health and social capital are mutually and independently correlated with other determinants, so improvements in either may lead to higher levels of social capital and well-being.

Credibility of the measurement of serum ferritin and transferrin receptor as indicators of iron deficiency anemia in hemodialysis patients.

BACKGROUND AND OBJECTIVES: Anemia is a common complication in uremic patients. Erythropoietin therapy is prescribed in these cases; however, this treatment is not successful in iron deficient patients. Ferritin-based diagnosis of iron deficiency in these patients is a challenging task, as serum ferritin level may be high due to chronic inflammation and mask iron deficiency. In the current study we evaluated the credibility of another indicator of body iron supply, serum transferrin receptor, in hemodialysis patients in two University-based Hospitals in North of Iran. MATERIALS AND METHODS: In a cross-sectional study, 53 hemodialysis patients with a mean age of 56 +/- 18.7 years and 30 persons with iron deficiency and normal renal function with a mean age of 20.1 +/- 14.4 years were examined. All hemodialysis patients were on hemodialysis 2-3 times per week for 3-4 hours. All cases were examined for blood hemoglobin content, serum iron, CRP, serum ferritin and serum transferrin receptor levels. The reference ranges introduced by manufacturers were considered as standard ranges for analysis of the results. Using one sample T-test and Fisher's exact test, data were analyzed. p<0.05 was considered as significant. RESULTS: Hemodialysis patients had blood hemoglobin content below normal range (p<0.05 for men, p<0.001 for women) and CRP levels above normal range (p<0.001). In hemodialysis patients, serum ferritin level was significantly higher than control group (p<0.001), whilst serum transferrin receptor levels in the two groups were not significantly different (p=0.69), and both were above defined normal upper limit (p<0.001 for iron deficient patients; p<0.05 for hemodialysis patients). DISCUSSION: This study showed measurement of serum ferritin in the presence of chronic inflammation induced by renal failure cannot be a credible indicator of body iron supply, while under this certain condition serum transferrin receptor can more appropriately reflect the amount of body iron supply.

Protective role of Pleurotus porrigens (Angel's wings) against gentamicin-induced nephrotoxicty in mice.

OBJECTIVES: This study was conducted to quantitatively evaluate the recovery effects of methanolic fraction Angel's wings on gentamicin (GM)-induced nephrotoxicity. MATERIAL AND METHODS: Renal injury was achieved by injecting 100 mg/kg, intraperitoneally of GM in normal saline. Extract were administrated intraperitoneally at doses 200 and 400 mg/kg. Blood samples were examined for serum creatinine, serum urea, and blood urea nitrogen after the 10 consecutive days of treatment. RESULTS: Results show that GM-induced nephrotoxic animal model was successfully prepared. Methanolic fraction of Angel's wings attenuated the gentamicin-induced increase in level of serum creatinine, serum urea, and blood urea nitrogen. CONCLUSIONS: The present study shows that the extract at the doses 200 and 400 mg/kg, intraperitoneally offered significant nephroprotective action that is comparable with control group.

Prevalence of hemoglobin alpha-chain gene deletion in neonates in North of Iran.

OBJECTIVES: Alpha-thalassemia (alpha-thal) is one of the most common genetic disorders and in some populations has prevalence as high as 30%. Disorders in hemoglobin (Hb) synthesis lead to mild to severe reduction in alpha-chain synthesis. Diagnosis of alpha-thal by examining fresh blood taken from umbilical cord is a simple and appropriate approach, while in later stages its diagnosis will be difficult and costly. MATERIAL AND METHODS: This study examined the prevalence of alpha-thal gene deletion in neonates in Sari, Iran. Screening study was carried out by examining fresh blood samples obtained from excised umbilical cords of neonates born in Sari hospitals from June 2007 to March 2008. Complete blood count (CBC) was done and Hb electrophoresis and High Performance Liquid Chromatography (HPLC) were performed for detection of Hb Bart's band. For each case two slides were stained by vital stain, 20 and 120 minutes post blood collection. Prevalence of alpha-thal was calculated and statistically analyzed (p < 5%). RESULTS: 69 cases out of 680 (10.1%) were positive for Hb Bart's. In 16 out of 69 positive cases (22.3%) the results of two methods, electrophoresis and slide staining were in conformity. In 53 positive cases (77%) there was no visible band in Hb electrophoresis; however Hb Bart's was detected via vital staining method. If the ratio of mean corpuscular volume (MCV) to red blood cell (RBC) count is smaller than 23, risk of alpha-thal is 2.8 fold greater than cases with an MCV/RBC ratio below 23 (p < 0.05). None of the cases were reported to be positive for Hb H disease and hydrops fetalis. CONCLUSIONS: Considering high prevalence of alpha-thal gene deletions in neonates in Sari hospitals, it is recommended to screen newborns for alpha-thal in this city and similar areas with such a high prevalence. The sensitivity of cellulose acetate electrophoresis and HPLC methods is not adequately high to detect Hb Bart's in all positive cases and staining and examination of peripheral blood slides stained with vital staining is necessary.

Effect of Fe2+ and Fe3+ ions on human plasma cholinesterase activity.

OBJECTIVES: Metals such as iron are needed for physiological functions of the body. However, their excess may cause serious damage including poisoning. The effects of Fe2+ and Fe3+ ions on human plasma cholinesterase activity were investigated. MATERIAL AND METHODS: Plasma were obtained (n = 24) from healthy male volunteers, and treated with five various concentrations of Fe2+ and Fe3+ ions. Activity of butyryl cholinesterase (BChE) was assayed according to colorimetric EIIman procedure. The activity was calculated as micromole of hydrolyzed substrate, per minute in each ml. RESULTS: Both ferric (Fe3+) and ferrous (Fe2+) ions significantly decreased the BChE activity in all tested concentrations. The effect of ferric (Fe3+) ions on the reduction of plasma enzyme activity was more pronounced than ferrous (Fe2+) ions (p < 0.001, respect to control group). CONCLUSIONS: The present paper represents the effect of Fe2+ and Fe3+ ions on ButyrylChE activity in human plasma. It reveals that both ions suppress BChE activity.

Hepatitis C prevalence studied by polymerase chain reaction and serological methods in haemodialysis patients in Mazandaran, Iran.

INTRODUCTION: Patients on maintenance haemodialysis are known to have an elevated risk of acquiring hepatitis C virus (HCV) infection. The reported prevalence among haemodialysis patients in the United States ranges from eight percent to ten percent, and is considerably higher in many European and Middle Eastern countries. Therefore, a reliable diagnosis of HCV infection is essential in order to prevent the spread of the disease in dialysis units. METHODS: All haemodialysis patients were interviewed in two dialysis units in Sari and Ghaemshahr, Iran, in 2006. Blood samples were collected and serum samples screened for anti-HCV antibodies by enzyme-linked immunosorbent assay (ELISA). All samples were retested for confirmation with polymerase chain reaction (PCR). RESULTS: A total of 186 haemodialysis patients (mean age 58.86 +/- 16.9 years) were studied. Mean duration of haemodialysis was 3.07 +/- 0.3 years. Mean of SGOT and SGPT were 30.64 +/- 6 and 32.01 +/- 8, respectively. Among the 186 patients, 39 (21 percent) were seropositive by ELISA and 21 (11.3 percent) were PCR positive. All PCR positive patients also had positive ELISA. Association between the duration of haemodialysis and HCV seropositivity was statistically significant (p-value is 0.0001), but there was no significant correlation between number of transfusions and HCV seropositivity. CONCLUSION: Despite the growing demand for cost-effectiveness in the health system, tight control of HCV infection by PCR and ELISA examination must remain an essential part of the routine screening in haemodialysis patients.

Antimicrobial studies on extracts of four species of stachys.

The antimicrobial activity of the methanol extracts of the dried flowering aerial parts of Stachys byzantina, S. inflata, S. lavandulifolia and S. laxa (Labiatae) were studied using the disc diffusion method and determination of minimum inhibitory concentration (MIC) values against Staphylococcus aureus, Streptococcus sanguis, Escherichia coli, Pseudomonas aeroginosa, Klebsiella pneumoniae, Aspergilus niger and Candida albicans. The extracts of plants exhibited concentration-dependent antibacterial activity against the bacteria tested. The extracts were more active against Gram-positive microorganisms. The extracts, however, did not show any antifungal activity.

Preliminary report of a nationwide case-control study for identifying risk factors of tuberculosis following renal transplantation.

BACKGROUND: Tuberculosis (TB) is an important infection encountered posttransplantation, especially among patients in developing countries, where there are high incidences of morbidity and mortality. MATERIALS AND METHODS: One hundred and twenty subjects (1%) from 15 major kidney transplantation centers in Iran from 1984 to 2003 were compared with 440 controls who were matched for operative time, treatment center, and surgical team. RESULTS: Mean ages of research subjects and controls were 38.6 and 36.6 years (P = .04), respectively. The mean duration of pretransplantation hemodialysis was 29 months (range, 2 to 192 months) in research subjects and 20 months (range, 1 to 180 months) in controls (P = .003). Positive past history of tuberculosis was detected in 4 (3.3%) research subjects and in 7 (1.5%) controls (P = .2). Fifty-two research subjects (43.3%) and 241 controls (54.8%) had pretransplantation purified protein derivative of tuberculin less than 5 mm (P = .02). Mean dosages of initial and maintenance immunosuppressive drugs in research subjects and in controls were not significantly different. Sixty research subjects (50%) and 152 controls (34.5%) had rejection prior to diagnosis of TB (P = .03). CONCLUSION: To our knowledge, this is the first study that demonstrates an increased risk of posttransplant TB by prolonged duration of pretransplant hemodialysis and number of posttransplant rejection episodes. Further study is needed to clarify these findings specifically with respect to various immunosuppressive regimens.

Applying a basic development needs approach for sustainable and integrated community development in less-developed areas: report of ongoing Iranian experience.

INTRODUCTION: Despite considerable achievements in the provision of basic developmental facilities in terms of drinking water, access to primary healthcare services, high-quality and nutritious food, social services, and proper housing facilities, there are many rural and slum communities in Iran where these essential needs remain unfulfilled. Lack of equity is prominent, as large differences exist in underprivileged provinces. New policies developed in the past two decades have resulted in substantial achievements in meeting population needs and reducing the socio-economic gap; nevertheless, poverty levels, unemployment due to a large increase in the birth rate in the early 1980s, and lack of community participation are matters yet to be addressed. To overcome these deficiencies, a basic development needs approach was adopted to promote the concept of community self-help and self-reliance through intersectoral collaboration, creating an environment where people could take an active part in the development process, with the Iranian government providing the necessary support to achieve the desired level of development. DESCRIPTION OF THE PROJECT: Following firm commitment from the Iranian government and technical support from the World Health Organization Regional Office, basic development needs was assigned a high priority in health and health-related sectors, reflected in the third National Masterplan (2001-2005). A comprehensive intersectoral plan was designed, and pilot projects were commenced in three villages. Each village elected a representative, and committee clusters were formed to run and monitor projects identified by a process of local needs assessment and priority assignment. In each region, a variety of needs were elicited from these assessments, which were actively supported by local authorities. LESSON LEARNED: A basic development needs approach was found to be a reliable discipline to improve community participation, needs-led resource allocation and intersectoral co-operation in community development, particularly in underprivileged areas. Iran's initial experience of basic development needs has gained widespread public support but will require periodical evaluation as it is introduced into other rural and urban regions across the country.

High incidence of autosomal recessive nonsyndromal congenital retinal nonattachment (NCRNA) in an Iranian founding population.

In an isolated and founding Iranian population the prevalence of congenital total blindness is 1.1%. Clinical findings such as lack of perception of light, massive retrolental mass, shallow anterior chamber and nystagmus, in otherwise normal individuals, correspond to nonsyndromal congenital retinal nonattachment. To determine the inheritance of this disease we constructed an extensive nine-generation pedigree of the affected kindred living in the Iranian founding population. The pedigree, which includes 42 patients from 25 sibships, clearly suggests autosomal recessive inheritance. To verify the inheritance, we compared the average coefficient of inbreeding (F) of the affected sibships with that of the control sibships, calculated the patients' sex ratio, and also compared the observed relative frequency of the disease with its expected relative frequencies for different modes of inheritance. The patients' average F value is significantly greater than that of the controls (P < 0.001). The sex ratio of the patients is close to unity and the observed relative frequency of the disease is close to that of an autosomal recessive trait. All these findings strongly support autosomal recessive transmission of this disease.