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Genetic analysis of non-syndromic hearing loss (NSHL) has been challenged due to marked clinical and genetic heterogeneity. Today, advanced next-generation sequencing (NGS) technologies, such as exome sequencing (ES), have drastically increased the efficacy of gene identification in heterogeneous Mendelian disorders. Here, we present the utility of ES and re-evaluate the phenotypic data for identifying candidate causal variants for previously unexplained progressive moderate to severe NSHL in an extended Iranian family. Using this method, we identified a known heterozygous nonsense variant in exon 26 of the DIAPH1 gene (MIM: 602121), which led to "Deafness, autosomal dominant 1, with or without thrombocytopenia; DFNA1" (MIM: 124900) in this large family in the absence of GJB2 disease-causing variants and also OtoSCOPE-negative results. To the best of our knowledge, this nonsense variant (NM_001079812.3):c.3610C>T (p.Arg1204Ter) is the first report of the DIAPH1 gene variant for autosomal dominant non-syndromic hearing loss (ADNSHL) in Iran., (© 2023 The Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.)

Background: Hand eczema (HE) refers to a common inflammatory dermatological condition. Several studies have shown that statins may have anti-inflammatory effects. This study aimed at investigating the efficacy of adding topical atorvastatin to topical betamethasone in the treatment of chronic HE., Methods: This randomized, double-blind, placebo-controlled research was done between October 2017 and August 2018 in Hamadan, Iran. Of 130 cases treated for HE, 88 were randomly assigned to groups receiving either betamethasone 1% ointment plus atorvastatin 5% cream (n = 44) or betamethasone 1% ointment plus vehicle cream (n=44). Both groups applied their medications twice a day for 10 days. The primary outcome was changes in the severity of HE, assessed by hand eczema severity index (HECSI). The secondary outcomes were changes in itching evaluated via visual analogue scale (VAS) and quality of life examined through dermatology life quality index (DLQI)., Results: Seventy-two out of 88 eligible cases completed the study. The mean HECSI scores decreased in both groups after the intervention, although the change in HECSI was greater in the atorvastatin group (adjusted mean difference [AMD]: 5.756; 95% CI: 5.168 to 6.344, P <0.001). The mean VAS scores decreased in both groups after the intervention, although the change in VAS was greater in the atorvastatin group (AMD: 10.535; 95% CI: 7.005 to 14.064, P <0.001). Treatment with topical atorvastatin was more effective in improving DLQI (AMD: 1.990; 95% CI: 1.821 to 2.158, P <0.001)., Conclusion: Addition of topical atorvastatin to topical betamethasone is beneficial in treatment of chronic HE., Trial Registeration: Identifier: IRCT2017070922965N10; https://www.irct.ir/., (© 2020 The Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.)

Background: This study assessed the status of cigarette marketing in Iran as well as the attitude of smokers toward smoking and the policies and tobacco control programs in the country., Methods: This cross-sectional study was conducted on 3480 volunteer smokers in six provinces, using a stratified cluster random sampling method. The study population consisted of smokers who used at least one cigarette per day. The data collection tool was an anonymous self-administered questionnaire including basic information and 20 five-choice questions related to participants' attitude toward smoking habits (Cronbach's alpha; 79.73%.)., Results: The majority (66.9%) of participants started smoking at the age of 10 to 19 years and 61.1% used foreign cigarettes. Of 160 marketed brands, 38 (23.8%) were domestic and 122 (76.2%) were foreign, including 63 (39.3%) imported and 59 (36.9%) smuggled brands. Being tempted (25.0%), getting nervous (24.1%), and seeking euphoria (24.1%) were the most common reasons for restarting cigarette smoking after cessation. The majority of participants believed that smoking in public places was a violation of the rights of others and smoking should be avoided in such places., Conclusion: Smoking prevention programs should focus on adolescents as the most vulnerable age group. Raising the retail price of tobacco products through increasing taxes can reduce consumption, particularly among first starters and youth. However, increasing taxes and prices of tobacco products may be effective when simultaneous effective measures are implemented to eliminate all kinds of illicit trade in all forms of tobacco products.

Background: Causes of death statistics provide crucial health intelligence in national and international communities. An efficient death registration system provides reliable information for health policy system. In many developing countries, death registration systems face a degree of misclassification and incompleteness. There are many impediments to putting an estimate of cause-specific death rates. Addressing those challenges could prevent misleading results., Methods: Our data was collected by Ministry of Health and Medical Education, Tehran and Isfahan cemeteries from 1995 to 2010. After converting ICD codes of Iran's death registration into GBD codes, 170 underlying causes of deaths were recognized in the available data. A wide range of methods were applied for preparing the data. We used several statistical models to estimate mortality rates in age-sex-province groups for all causes of deaths. The considerable number of combinations for age, sex, cause of death, year, and province variables made further complicated model selection and evaluation of the results., Results: Totally, 58.91% of deaths were related to males. The majority of cases of death were classified as NCDs (77.83%) and injuries (14.80%). We extrapolated 71.76% and 14.71% of causes of death by mixed effect model, spline model with parameter 0.9 and 0.6, respectively., Conclusion: A comprehensive and unique registration system is able to solve many DRS issues. It is necessary to assess the quality and validity of cause of death data. Scientific methods like analyzing mortality level and cause-of-death data are used to provide an overview for better decisions.

Background: Calculation of burden of diseases and risk factors is crucial to set priorities in the health care systems. Nevertheless, the reliable measurement of mortality rates is the main barrier to reach this goal. Unfortunately, in many developing countries the vital registration system (VRS) is either defective or does not exist at all. Consequently, alternative methods have been developed to measure mortality. This study is a subcomponent of NASBOD project, which is currently conducting in Iran. In this study, we aim to calculate incompleteness of the Death Registration System (DRS) and then to estimate levels and trends of child and adult mortality using reliable methods., Methods: In order to estimate mortality rates, first, we identify all possible data sources. Then, we calculate incompleteness of child and adult morality separately. For incompleteness of child mortality, we analyze summary birth history data using maternal age cohort and maternal age period methods. Then, we combine these two methods using LOESS regression. However, these estimates are not plausible for some provinces. We use additional information of covariates such as wealth index and years of schooling to make predictions for these provinces using spatio-temporal model. We generate yearly estimates of mortality using Gaussian process regression that covers both sampling and non-sampling errors within uncertainty intervals. By comparing the resulted estimates with mortality rates from DRS, we calculate child mortality incompleteness. For incompleteness of adult mortality, Generalized Growth Balance, Synthetic Extinct Generation and a hybrid of two mentioned methods are used. Afterwards, we combine incompleteness of three methods using GPR, and apply it to correct and adjust the number of deaths., Conclusion: In this study, we develop a conceptual framework to overcome the existing challenges for accurate measuring of mortality rates. The resulting estimates can be used to inform policy-makers about past, current and future mortality rates as a major indicator of health status of a population.

Background: Searching for the latest methods of estimating mortality rates is a major concern for researchers who are working in burden of diseases. Child mortality is an important indicator for assessing population health care services in a country. The National and Sub-national Burden of Diseases, Injuries, and Risk Factors (NASBOD) is conducted in Iran with comparative methods and definitions of Global Burden of Disease (GBD) 2010 to estimate major population health measures including child mortality rate. The need to have accurate and valid estimation of under-5 mortality rate led to apply more powerful and reliable methods., Method: The available datasets consist of under-five mortality rates from different sources including death registration systems and summary birth history (SBH) questions from censuses and Demographic Health Survey. These datasets are gathered at national and sub-national levels. We have five time series of under-five mortality rates from SBH method that each one contains 25-year time period. We also calculated Child mortality rates from death registration for 5 years. The main challenge is how to combine and integrate these different time series and how to produce unified estimates of child mortality rates during the course of study. By synthesizing the result of other models, Gaussian Process Regression (GPR) is used as the final stage for generating yearly child mortality rates in this study. GPR is a Bayesian technique that uses data information and defines several hierarchical prior parameters for model. In corporation of GPR and MCMC methods, predicted rates are updated using data and defined parameters in model. This method, also captures both sampling and non-sampling errors and provides uncertainty intervals. The existence of uncertainty for predicting mortality rate is one of the considerable advantages of GPR that distinguish it from other alternative methods., Discussion: Estimating accurate and reliable child mortality rates at national and sub-national levels is one of the important parts of NASBOD project in Iran. Gaussian Process Regression with its special features improves achievement of this goal. GPR is a serious competitor for other supervised mortality predictive methods. This article aims to explain the application and preferences of GPR method in estimating child mortality rate.