Developing and psychometric of an instrument for reproductive health need assessment related to HIV/Aids in Iranian adult men

Background: Due to the socio-cultural characteristics of Iranian adult men and lack of standardized questionnaires to assess their reproductive health associated with sexually transmitted diseases and HIV / AIDS, this study is done with the goal of development and psychometrics of a valid relevant instrument.Method: A mixed method was used in this study. The reproductive health needs of men were investigated using qualitative content analysis according to the views of 40 people who participated in the study and were chosen via purposive sampling. Accordingly, a psychometric questionnaire was designed and features of the questionnaire were determined using formal, content, and construct validity as well as internal consistency reliability and stability.Findings: The validity index (0.92) and construct validity was analyzed by exploratory factor analysis, which resulted in five factors. Its reliability was estimated using internal consistency, ndCronbach's alpha was 0.88. The analysis ofthe instrument consistency revealed that intraclass correlation index in two phases within two weeks was 0.98.Finally, a questionnaire with 43 items and 5 factors (required) consisting of "gender-based education and services", "overcoming the challenges of educational services", "adequate support", "correction of cultural beliefs" and "empowerment of women" was prepared.Conclusion: The designed instrument is valid and reliable. It is culturally appropriate. It is suggested to be used to assess reproductive health needs of adult men in relation to HIV / AIDS and sexually transmitted diseases.Keywords: men, needs assessments, psychometric tools, AIDS, sexually transmitted disease

Writing History as if Women and Gender Mattered

Current histories of the Iranian Constitutional Revolution (1905-1909) frequently begin with the bastinado of three Tehrani merchants, on 11 December 1905, upon the orders of Tehran's governor. This incident, we are told, led the two leading Tehran clerics to stage a sit-in protest, demanding dismissal of the governor and the premier, as well as calling for the institution of a House of Justice. Some months later, two men of religion were killed when government soldiers attempted to break up a protesting crowd in Tehran's Friday Mosque. This set off a chain of events that culminated in the issuance of the Constitutional decree by Muzaffar al-Din Shah on 5 August 1906. By telling a different story of these same revolutionary years, I question how these particular events have come to form Iranian collective memory of that revolution, while others have been merely forgotten

Molecular study of PKD1 & PKD2 genes by linkage analysis and determining the genotype/phenotype correlations in several Iranian families with autosomal dominant polycystic kidney disease

Background: Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder with genetic heterogeneity. Up to three loci are involved in this disease, PKD1 on chromosome 16p 13.3, PKD2 on 4q21, and a third locus of unknown location. Methods: Here we report the first molecular genetic study of ADPKD and the existence of locus heterogeneity for ADPKD in the Iranian population by performing linkage analysis on 15 affected families. Results: Eleven families showed linkage to PKD1 and two families showed linkage to PKD2. In two families, PKD1 markers are common in all affected members but PKD2 markers were not informative. Conclusion: The results of this study demonstrate significant locus heterogeneity in autosomal dominant PKD in Iran. Analysis of clinical data confirms a milder ADPKD phenotype for PKD2 families. Our results showed relatively high heterozygosity rates and PIC values for some markers, while the most informative markers were KG8 and 16AC2.5 for PKD1 gene and AFM224x6 for PKD2 gene

Developing a Questionnaire for Iranian Women's Attitude on Medical Ethics in Vaginal Childbirth

Background: Vaginal delivery is one of the challenging issues in medical ethics. It is important to use an appropriate instrument to assess medical ethics attitudes in normal delivery, but the lack of tool for this purpose is clear. Objectives: The aim of this study was to develop and validate a questionnaire for the assessment of women’s attitude on medical ethics application in normal vaginal delivery. Patients and Methods: This methodological study was carried out in Iran in 2013 - 2014. Medical ethics attitude in vaginal delivery questionnaire (MEAVDQ) was developed using the findings of a qualitative data obtained from a grounded theory research conducted on 20 women who had vaginal childbirth, in the first phase. Then, the validation criteria of this tool were tested by content and face validity in the second phase. Exploratory factor analysis was used for construct validity and reliability was also tested by Cronbach’s alpha coefficient in the third phase of this study. SPSS version 13 was used in this study. The sample size for construct validity was 250 females who had normal vaginal childbirth. Results: In the first phase of this study (tool development), by the use of four obtained categories and nine subcategories from grounded theory and literature review, three parts (98-items) of this tool were obtained (A, B and J). Part A explained the first principle of medical ethics, part B pointed to the second and third principles of medical ethics, and part J explained the fourth principle of medical ethics. After evaluating and confirming its face and content validity, 75 items remained in the questionnaire. In construct validity, by the employment of exploratory factor analysis, in parts A, B and J, 3, 7 and 3 factors were formed, respectively; and 62.8%, 64% and 51% of the total variances were explained by the obtained factors in parts A, B and J, respectively. The names of these factors in the three parts were achieved by consideration of the loading factor and medical ethics principles. The subscales of MEAVDQ showed significant reliability. In parts A, B and J, Cronbach’s alpha coefficients were 0.76, 0.72 and 0.68, respectively and for the total questionnaire, it was 0.72. The results of the test–retest were satisfactory for all the items (ICC = 0.60 - 0.95). Conclusions: The present study showed that the 59-item MEAVDQ was a valid and reliable questionnaire for the assessment of women’s attitudes toward medical ethics application in vaginal childbirth. This tool might assist specialists in making a judgment and plan appropriate for women in vaginal delivery management

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.

ObjectiveWe aimed to generate a review and description of the phenotypic and genotypic spectra of ARHGEF9 mutations.MethodsPatients with mutations or chromosomal disruptions affecting ARHGEF9 were identified through our clinics and review of the literature. Detailed medical history and examination findings were obtained via a standardized questionnaire, or if this was not possible by reviewing the published phenotypic features.ResultsA total of 18 patients (including 5 females) were identified. Six had de novo, 5 had maternally inherited mutations, and 7 had chromosomal disruptions. All females had strongly skewed X-inactivation in favor of the abnormal X-chromosome. Symptoms presented in early childhood with delayed motor development alone or in combination with seizures. Intellectual disability was severe in most and moderate in patients with milder mutations. Males with severe intellectual disability had severe, often intractable, epilepsy and exhibited a particular facial dysmorphism. Patients with mutations in exon 9 affecting the protein's PH domain did not develop epilepsy.ConclusionsARHGEF9 encodes a crucial neuronal synaptic protein; loss of function of which results in severe intellectual disability, epilepsy, and a particular facial dysmorphism. Loss of only the protein's PH domain function is associated with the absence of epilepsy

Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families

Background: Telomerase is a ribonucleoprotein enzyme that synthesises telomeres after cell division and maintains chromosomal stability leading to cellular immortalization. Telomerase has been associated with negative prognostic indicators in some studies. The present study aims to detect any association between telomerase sub-units: hTERT and hTR and the prognostic indicators including tumour's size and grade, nodal status and patient's age. Methods: Tumour samples from 46 patients with primary invasive breast cancer and 3 patients with benign tumours were collected. RT-PCR analysis was used for the detection of hTR, hTERT, and PGM1 (as a housekeeping) genes expression. Results: The expression of hTR and hTERT was found in 31(67.4%) and 38 (82.6%) samples respectively. We observed a significant association between hTR gene expression and younger age at diagnosis (p = 0.019) when comparing patients ≤ 40 years with those who are older than 40 years. None of the benign tumours expressed hTR gene. However, the expression of hTERT gene was revealed in 2 samples. No significant association between hTR and hTERT expression and tumour's grade, stage and nodal status was seen. Conclusion: The expression of hTR and hTERT seems to be independent of tumour's stage. hTR expression probably plays a greater role in mammary tumourogenesis in younger women (≤ 40 years) and this may have therapeutic implications in the context of hTR targeting strategies

Hemoglobin Q-Iran detected in family members from Northern Iran: a case report

<p>Abstract</p> <p>Introduction</p> <p>Hemoglobin Q-Iran (α75Asp→His) is an important member of the hemoglobin Q family, molecularly characterized by the replacement of aspartic acid by histidine. The first report of hemoglobin Q-Iran and the nomenclature of this hemoglobinopathy dates back to 1970. Iran is known as a country with a high prevalence of α- and β-thalassemia and different types of hemoglobinopathy. Many of these variants are yet to be identified as the practice of molecular laboratory techniques is limited in this part of the world. Applying such molecular methods, we report the first hemoglobin Q-Iran cases in Northern Iran.</p> <p>Case presentation</p> <p>An unusual band was detected in an isoelectric focusing test and cellulose acetate electrophoresis of a sample from a 22-year-old Iranian man from Mazandaran Province. Capillary zone electrophoresis analysis identified this band as hemoglobin Q. A similar band was also detected in his mother's electrophoresis (38 years, Iranian ethnicity). The cases underwent molecular investigation and the presence of a hemoglobin Q-Iran mutation was confirmed by the amplification refractory mutation system polymerase chain reaction method. Direct conventional sequencing revealed a single guanine to cytosine missense mutation (c.226G > C; <it>G</it>AC ><it>C</it>AC) at codon 75 in the α-globin gene in both cases.</p> <p>Conclusion</p> <p>The wide spectrum and high frequency of nondeletional α-globin mutations in Mazandaran Province is remarkable and seem to differ considerably from what has been found in Mediterranean populations. This short communication reports the first cases of patients with hemoglobin Q found in that region.</p

Mutations in NSUN2 cause autosomal-recessive intellectual disability

With a prevalence between 1 and 3%, hereditary forms of intellectual disability (ID) are among the most important problems in health care. Particularly, autosomal-recessive forms of the disorder have a very heterogeneous molecular basis, and genes with an increased number of disease-causing mutations are not common. Here, we report on three different mutations (two nonsense mutations, c.679C>T [p.Gln227( *)] and c.1114C>T [p.Gln372( *)], as well as one splicing mutation, g.6622224A>C [p.Ile179Argfs( *)192]) that cause a loss of the tRNA-methyltransferase-encoding NSUN2 main transcript in homozygotes. We identified the mutations by sequencing exons and exon-intron boundaries within the genomic region where the linkage intervals of three independent consanguineous families of Iranian and Kurdish origin overlapped with the previously described MRT5 locus. In order to gain further evidence concerning the effect of a loss of NSUN2 on memory and learning, we constructed a Drosophila model by deleting the NSUN2 ortholog, CG6133, and investigated the mutants by using molecular and behavioral approaches. When the Drosophila melanogaster NSUN2 ortholog was deleted, severe short-term-memory (STM) deficits were observed; STM could be rescued by re-expression of the wild-type protein in the nervous system. The humans homozygous for NSUN2 mutations showed an overlapping phenotype consisting of moderate to severe ID and facial dysmorphism (which includes a long face, characteristic eyebrows, a long nose, and a small chin), suggesting that mutations in this gene might even induce a syndromic form of ID. Moreover, our observations from the Drosophila model point toward an evolutionarily conserved role of RNA methylation in normal cognitive development

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype

Abstract: Pathogenic variants in aminoacyl-tRNA synthetases (ARS1) cause a diverse spectrum of autosomal recessive disorders. Tyrosyl tRNA synthetase (TyrRS) is encoded by YARS1 (cytosolic, OMIM*603,623) and is responsible of coupling tyrosine to its specific tRNA. Next to the enzymatic domain, TyrRS has two additional functional domains (N-Terminal TyrRSMini and C-terminal EMAP-II-like domain) which confer cytokine-like functions. Mutations in YARS1 have been associated with autosomal-dominant Charcot-Marie-Tooth (CMT) neuropathy type C and a heterogenous group of autosomal recessive, multisystem diseases. We identified 12 individuals from 6 families with the recurrent homozygous missense variant c.1099C > T;p.(Arg367Trp) (NM_003680.3) in YARS1. This variant causes a multisystem disorder with developmental delay, microcephaly, failure to thrive, short stature, muscular hypotonia, ataxia, brain anomalies, microcytic anemia, hepatomegaly, and hypothyroidism. In silico analyses show that the p.(Arg367Trp) does not affect the catalytic domain responsible of enzymatic coupling, but destabilizes the cytokine-like C-terminal domain. The phenotype associated with p.(Arg367Trp) is distinct from the other biallelic pathogenic variants that reside in different functional domains of TyrRS which all show some common, but also divergent clinical signs [(e.g., p.(Phe269Ser)—retinal anomalies, p.(Pro213Leu)/p.(Gly525Arg)—mild ID, p.(Pro167Thr)—high fatality)]. The diverse clinical spectrum of ARS1-associated disorders is related to mutations affecting the various non-canonical domains of ARS1, and impaired protein translation is likely not the exclusive disease-causing mechanism of YARS1- and ARS1-associated neurodevelopmental disorders. Key messages: The missense variant p.(Arg367Trp) in YARS1 causes a distinct multisystem disorder.p.(Arg367Trp) affects a non-canonical domain with cytokine-like functions.Phenotypic heterogeneity associates with the different affected YARS1 domains.Impaired protein translation is likely not the exclusive mechanism of ARS1-associated disorders