Four mutations (three novel, one founder) in TACSTD2 among Iranian GDLD patients

PURPOSE: To perform a mutation screening of TACSTD2 in 13 Iranian Gelatinous Drop-like Corneal Dystrophy (GDLD) pedigrees. To assess genotype-phenotype correlations. To determine intragenic SNP haplotypes associated with the mutations, so as to gain information on their origin. METHODS: The coding region of TACSTD2 was sequenced in the probands of 13 unrelated Iranian GDLD pedigrees. Variations were assessed in other available affected and unaffected family members and in unrelated normal control subjects by restriction fragment length polymorphism (RFLP). The variations were classified as being associated with disease if they segregated with the disease phenotype in the families, were not observed in 100 control individuals, disrupted protein expression, or affected conserved positions in the coded protein. Three intragenic single-nucleotide polymorphisms (SNPs) were used to define haplotypes associated with putative disease-causing mutations. RESULTS: The probands were each homozygous for one of four putative disease-causing variations observed in TACSTD2: C66X, F114C, L186P, and E227K. Three of these are novel. E227K was found in 10 of the Iranian patients. There were some phenotypic differences among different patients carrying this mutation-for example, with respect to age at onset. Genotyping of intragenic SNPs identified four haplotypes. C66X, F114C, and L186P were each associated with a haplotype common among control chromosomes, whereas all E227K alleles were associated with a haplotype not found among the control chromosomes. CONCLUSIONS: Although mutations in TACSTD2 among Iranian patients with GDLD were heterogeneous, E227K was found to be a common mutation. It is suggested that E227K may be a founder mutation in this population. Based on positions of known mutations in TACSTD2, significance of the thyroglobulin domain of the TACSTD2 protein in the pathogenesis of GDLD is suggested.     

Longer sleep duration may negatively affect renal function

International Urology and Nephrology - Observational studies evaluating the link between sleep duration and kidney function reported controversial results. In the present study, Mendelian...     

Identification of a New Allergen from Amaranthus retroflexus Pollen,Ama r 2

BackgroundPollinosis from Amaranthus retroflexus pollen is a common cause of respiratory allergy in Iran with a high positive rate (68.8%) among Iranian allergic patients. The aim of the present study was to evaluate the allergenicity of the A. retroflexus pollen profilin.MethodsUsing sera from twelve patients allergic to A. retroflexus pollen, IgE-binding proteins from the A. retroflexus pollen extract was identified by immunoblotting. The cDNA of A. retroflexus pollen profilin was amplified, then cloned into the pET-21b (+) vector, expressed in Escherichia coli, and finally purified by metal affinity chromatography. The IgE-binding capacity of the recombinant protein was then analyzed by the ELISA, immunoblotting, and inhibition assays, as well as by the skin prick test (SPT).ResultsImmunoblotting results indicated a 14.6 kDa protein with IgE-reactivity to 33% (4/12) among A. retroflexus pollen-allergic patients. Nucleotide sequencing of the cDNA revealed an open reading frame of 399 bp encoding for 133 amino acid residues which was belonged to the profilin family and designated as Ama r 2. A recombinant Ama r 2 (rAma r 2) was then produced in E. coli as a soluble protein which showed a strong IgEreactivity via ELISA confirmed by the SPT. Inhibition experiments revealed high IgE cross-reactivities with the profilins from other plants.ConclusionsThe profilin from the A. retroflexus pollen, Ama r 2, was firstly identified as an allergen. Moreover, rAma r 2 was produced in E. coli as a soluble immunoreactive protein with an IgE-reactivity similar to that of its natural counterpart.     

Serum copper, zinc and iron status of various bovine categories on Holstein dairy cattle farms

The aim of this study was to evaluate the blood serum concentrations of copper (Cu), zinc (Zn) and iron (Fe) in various bovine categories reared on industrial Holstein dairy farms. The study was carried out on 12 industrial Holstein dairy cattle farms in various region of Isfahan province, central Iran. Blood samples were collected from 240 dairy cows, 120 dry cows, 120 heifers and 120 calves. The Cu, Fe, and Zn contents were assessed in samples using atomic absorption spectrophotometer. Dry cows and heifers showed the lower Cu concentrations in comparison with dairy cows and calves (P?<?0.05). Heifers and calves showed the higher Zn concentrations in comparison with dairy cows (P?<?0.05). The serum Fe concentrations were significantly higher in heifers than those in dairy and dry cows (P?<?0.05). Dairy cows showed higher Cu and lower Zn and Fe concentrations in comparison with the other categories (P?<?0.05). Cu deficiency was diagnosed in 68% of the examined dairy cows (67% herds), 82% dry cows (92% herds), 75% heifers (92% herds) and 61% calves (58% herds). Only a small number of cattle were Zn- and Fe-deficient while on all farms, Cu deficiency was diagnosed in at least one of the bovine categories. In conclusion, because of the different physiological states of various bovine categories reared on Holstein dairy farms, mineral supplements (Cu, Zn and Fe) should be provided based on physiological requirements of individual bovine categories and the results of those diet analyses.     

First detection of acalculous cholecystitis associated with Sarcocystis infection in a patient with AIDS

Acalculous cholecystitis and cholangitis are increasingly being recognized as complications of AIDS. The opportunistic parasites that have been most commonly associated with these disorders are Cryptosporidium species, Isospora belli, Cyclospora cayetanensis and Enterocytozoon bieneusi. The authors performed a parasitological survey on the gallbladder tissue sections of patients underwent cholecystectomy due to chronic acalculous cholecystitis at the Shiraz University of Medical Sciences, Iran. Light microscopic investigation in more than three hundred archived histopathological slides revealed the presence of sexual stages (i.e., mature sporocysts) of a coccidial protozoan in a patient with AIDS who developed acalculous cholecystitis as confirmed by histological, parasitological and molecular tests in which Sarcocystis species was the only identifiable pathogen in gallbladder sections. In the best of our knowledge it’s the first documented case of chronic non-calculous cholecystitis due to Sarcocystis parasite in an Iranian AIDS patient from worldwide.     

Management of Epilepsy in Resource-Limited Areas: Establishing an Epilepsy Surgery Program in Iran

Background Of about 40 million people with epilepsy, who live in developing countries, the majority do not receive appropriate treatment. Nonetheless, there are striking disparities among the so-called developing countries, however generally speaking, access to and availability of epilepsy management programs in developing countries are very limited and therefore, the issue of developing epilepsy centers in resource-limited settings in a large scale is very essential. The surgery for epilepsy, including temporal lobotomy, lesionectomy and corpus colostomy, for patients with medically-refractory seizures, defined as failure of adequate trials of two tolerated, appropriately chosen and using antiepileptic drug to achieve sustained freedom, from seizure has been proved to be feasible and cost-effective in developing countries. However, the success of epilepsy surgery depends upon the accurate identification of good surgical candidates based on the available resources and technologies without jeopardizing safety. In the current paper, we will share our experiences of establishing an epilepsy surgery program in Iran, despite all short-comings and limitations and try to provide some answers to those challenges, which helped us establish our program.     

Psychometric Properties of the Iranian Version of the Sexual Quality of Life Scale among Women

Introduction.Female sexual dysfunction has a known impact on the quality of life.Aim.The purpose of this study was the translation and validation of an Iranian version of the Sexual Quality of Life questionnaire‐Female (SQOL‐F) in Iranian women.Methods.A population sample of N = 2,675 women aged 17–67 years from Qazvin City of Iran and two clinical population samples (women with sexual dysfunctions N = 295 and women with type 2 diabetes N = 449) participated in the study. A self‐constructed demographic questionnaire, the SQOL‐F, the Short Form Health Survey (SF‐36), and the Female Sexual Function Index (FSFI) were used for data collection.Main Outcome Measures.Internal consistency and test–retest reliability were examined. Correlations between the SQOL‐F, SF‐36, and FSFI were assessed with convergent validity. Furthermore, known‐groups comparison analysis was conducted to compare differences in SQOL‐F scores between healthy women and those with sexual problems and diabetes. Confirmatory factor analysis assessed the factor structure of the SQOL‐F.Results.Cronbach's alpha ranged from 0.84 to 0.98. Significant correlations between the SQOL‐F, SF‐36, and FSFI scores were found (ranging from r = 0.4 to r = 0.72). The SQOL‐F scores were significantly different between women with and without a clinical condition (P < 0.05). A unifactorial model provided the best fit to the data.Conclusion.The questionnaire represents a suitable measure to assess sexuality‐related quality of life to sexual function in healthy women, as well as in women suffering from a chronic medical condition. Application of the scale to other clinical samples needs to be further explored.     

Increased oesophageal cancer mortality rate in Iran

Background and study aimsThe aim of this study is to present the mortality trends of oesophageal cancer (EC) in the Iranian population, to provide updated information regarding time trends for this cancer.Patients and methodsWe analysed the national death statistics reported by the Iranian Ministry of Health and Medical Education from 1995 to 2004. EC [International Classification of Diseases (ICD-9); C15] were expressed as the annual mortality rates/100 000, overall, by sex and by age group (<15, 15–49 and ?50 years of age) and age standardised rate (ASR).ResultsThe age standardised mortality rate of EC increased dramatically during the study period. EC mortality was higher for males and the mortality rate also increased with age.ConclusionThis study provides a comprehensive projection for the burden of death due to EC, indicating that the trend of EC mortality dramatically increased in the recent decade.     

The short‐term impact of a problem‐solving skills programme for Iranian parents

Background: The ability of children to solve problems is an important influence on the social‐cognitive development of children. Parents and children who use problem‐solving strategies display more positive parent‐child relationships. It follows that parents will be more effective in promoting the children's development and healthy parent‐child relationships if they are skilled in problem‐solving strategies and encourage their children to use these strategies. Aim: The aim of the present study was to evaluate the short‐term efficacy of a problem‐solving skills program for Iranian parents (the ‘Raising a Thinking Child’ program) on the parent‐child relationship. Materials and method: Sixty‐four mothers of 4–8 year‐old children participated voluntarily in 12 2‐hour weekly workshops over a three month period. Parents were taught a procedure for problem‐solving and provided with the opportunity to consider how the procedure could be applied in response to challenging behaviors of their children. The problem‐solving strategies were taught as an alternative to ineffective approaches such as punishing and reprimanding. Results: Results indicated that teaching problem‐solving skills to parents had a positive influence on a number of dimensions of parenting as measured by the Parent Child Relationship Inventory. Conclusion: Parents who attended the program felt more supported, more involved with their children and better able to balance limit setting and child autonomy.