Investigation of mutations in exons 19-23 MYH7 gene in hypertrophic cardiomyopathy patients using PCR-SSCP/HA technique in Chaharmahal va Bakhtiari province

زمینه و هدف: کاردیومایوپاتی هایپرتروفی (HCM) رایج ترین نوع از بیماری های قلبی است که 2/0 درصد از جمعیت جهان را تحت تأثیر قرار داده و همچنین رایج ترین علت مرگ قلبی ناگهانی در جوانان زیر 35 سال است. حدود 35 درصد موارد بیماری مربوط به اگزون های 24- 8 از ژن MYH7 است. هدف این مطالعه بررسی احتمال حضور جهش های مربوط به ژن MYH7 در اگزون های 23-19 در بیماران HCM استان چهارمحال و بختیاری بود. روش بررسی: در این مطالعه تجربی 30 بیمار مبتلا به HCM به روش نمونه گیری آسان از بین مراجعین به کلینیک قلب دانشگاه علوم پزشکی شهرکرد انتخاب شدند. در این بیماران DNAبه روش استاندارد فنل-کلروفرم استخراج شد. اگزون های مورد نظر با استفاده از روش PCR تکثیر و با روش SSCP به صورت تک رشته تبدیل شد و همراه نمونه های دو رشته ای روی ژل پلی آکریل آمید الکتروفورز گردید. سپس باندهای مشکوک تعیین توالی گردید و نتایج با استفاده از نرم افزار Chromas تجزیه و تحلیل شدند. یافته ها: در اگزون های 20، 21 و 23 تغییری مشاهده نشد، اما در اگزون های 19 و 22 دو جهش R719W و R870H یافت شد که به ترتیب در دو و یک نفر از بیماران وجود داشتند. نتیجه گیری: از آنجا که تغییرات در اگزون های 19 و 22 باعث تغییر اسید آمینه ای در میوزین بتا می شود، جهش‌های ژن MYH7 در این اگزون ها، احتمالاً سهم به سزایی در بیماران HCM این استان دارند. به هر صورت، لازم است برای نتیجه گیری بهتر، بیماران بیشتری مورد مطالعه قرار گیرند

Expression levels of mRNA cytokines of IL-17 and IL-23 in epithelialfiber of stomach inpatients with Helicobacter pylori using Real-Time PCR in Chahar Mahal and Bakhtiari province

زمینه و هدف: اینترلوکین های 17 و 23 در دفاع بر علیه برخی عفونت‌های مخاطی دستگاه گوارش نقش دارند و IL-17 باعث جذب نوتروفیل ها به محل عفونت شده و در ایجاد التهاب نقش دارد. مطالعه حاضر میزان بیان mRNA سیتوکاین های IL-17و IL-23در دو گروه بیماران گاستریتی با عفونت هلیکوباکترپیلوری و فاقد عفونت را به وسیله روش کمی Real-Time PCR بررسی می‌کند. روش بررسی: در این مطالعه مورد- شاهدی، از 58 بیمار دارای گاستریت با عفونت هلیکوباکترپیلوری و 50 بیمار مبتلا به گاستریت که فاقد عفونت بودند، توسط آندوسکوپی بیوپسی تهیه شد. بعد از استخراجmRNA و تبدیل آن به cDNA، میزان بیانmRNA مربوط به IL-17و IL-23در نمونه‌ها توسط Real-Time PCR اندازه گیری شد و بیان سایتوکاین ها در دو گروه آلوده و غیر آلوده با استفاده از تست Mann–Whitney مورد آنالیز قرار گرفت. یافته‌ها: ارتباط معنی‌داری بین میزان بیانIL-17 mRNA در افراد دارای گاستریت با عفونت هلیکوباکترپیلوری و افراد دارای گاستریت فاقد عفونت دیده نشد (941/0P=). همچنین ارتباط بین میزان بیان mRNA IL-23در بیماران دارای گاستریت با عفونت هلیکوباکترپیلوری و بیماران دارای گاستریت فاقد عفونت معنی دار نبود (076/0 P=). نتیجه‌گیری: نتایج این مطالعه نشان داد که میزان بیان mRNA سیتوکاین های IL-17و IL-23در بیماران دارای گاستریت با عفونت هلیکوباکترپیلوری در مقایسه با بیماران گاستریتی بدون عفونت بالاتر نمی‌باشد و در نتیجه ارتباط معنی داری بین دو گروه مورد مطالعه در این استان وجود ندارد؛ لذا می طلبد تا نقش دقیق سایتوکاین ‌های دیگر درگیر در بروز بیماری گاستریت جهت تعیین پیش آگهی و ارزیابی برنامه های درمانی بیشتر مشخص شود

Studying VSX1 gene mutations in patients with Keratoconus of Chaharmahal and Bakhtiari province, Iran

Background & Aims: Keratoconus (KC) is an eye disorder in which the cornea is swollen, thinned and deformed. Despite extensive studies, the pathophysiological processes and genetic etiology of KC is unknown. The disease incidence is approximately 1 in 2000 and is the most common cause of corneal transplantation in the US. Many genes are involved in the disease, but evidence suggests a major role for VSX1 in the etiology of KC. This study aimed to determine the frequency of mutations in exons 2, 4 of the VSX1 gene in Chaharmahal and Bakhtiari province, Iran. Methods: In this experimental study, mutations in two exons including exons 2 and 4 of VSX1 were investigated in 50 patients with KC. DNA was extracted using a standard phenol-chloroform method. PCRSSCP/ HA was performed, followed by DNA sequencing to confirm the identified motility shift. Results: H244R mutation was identified in exon 4 of only one patient. Conclusion: Our investigation showed that the KC-related VSX1 mutations are found in very small samples in the study subjects from Iran. Further investigations on other genes are needed to clarify their roles in KC pathogenesis

Mapping 123 million neonatal, infant and child deaths between 2000 and 2017

Since 2000, many countries have achieved considerable success in improving child survival, but localized progress remains unclear. To inform efforts towards United Nations Sustainable Development Goal 3.2—to end preventable child deaths by 2030—we need consistently estimated data at the subnational level regarding child mortality rates and trends. Here we quantified, for the period 2000–2017, the subnational variation in mortality rates and number of deaths of neonates, infants and children under 5 years of age within 99 low- and middle-income countries using a geostatistical survival model. We estimated that 32% of children under 5 in these countries lived in districts that had attained rates of 25 or fewer child deaths per 1,000 live births by 2017, and that 58% of child deaths between 2000 and 2017 in these countries could have been averted in the absence of geographical inequality. This study enables the identification of high-mortality clusters, patterns of progress and geographical inequalities to inform appropriate investments and implementations that will help to improve the health of all populations

The role of prison in limiting the spatial development of Even neighborhood in Tehran

Introduction     Land uses are divided into two "compatible" and "incompatible" types in terms of function and spatial effects. This division is done because each user has the most positive and synergistic relationship with other uses in urban development. Therefore, one of the objectives of land use planning is to locate appropriately and isolate compatible and incompatible land uses from each other (Jankowski, 1995). Incompatible uses in residential textures often include a variety of factories, barracks, slaughterhouses, and prisons (Afradi, 2013). Prisons in Iran are considered one of the administrative and police uses with a transurban scale and have incompatible uses (Supreme Council of Urbanism and Architecture of Iran, 2010). The creation or development of this land use is prohibited within the inner limits of cities (Ziari, 2002: 177).        The Evin Prison, located in the Evin neighborhood in Tehran's District 1, has many positive and negative effects on its adjacent spaces. This study aimed to identify the effect of incompatible use of the Evin prison on spatial development (physical, social, and economic) of the Evin neighborhood. The main question of this article is what effect has the incompatible use of the prison on the spatial development of the Evin neighborhood? Data and Methods    The Evin Neighborhood Development Plan information was collected from the comprehensive and detailed plan, the strategic document for the development of the neighborhood, and the municipality of District 1. Other data and information were collected by the questioning method. The statistical population of this study was 1158 families living in the Evin neighborhood, and the sample size was 288 families, which was calculated using Cochrane's formula. Six real estates with a history located in the Evin neighborhood were also interviewed purposefully about the impact of the prison on the price of lands and properties in this neighborhood. T-test and the correlation coefficient were used to process the data. The criteria and variables of this research are: A. Physical development (area, ratio, and per capita land use, occupancy level, density percentage, and the number of building floors). B. Social development (percentage of feeling safe and percentage of citizen participation in neighborhood affairs). C. Economic development (the amount of housing prices, the amount of housing rent, and the amount of private-public investment). Results and Discussion The role of the prison in physical development: By reducing the density and height of the building through urban development plans, the prison has imposed and institutionalized restrictions on the physical development of the Evin neighborhood (officially formal). This restriction was more in the adjacent and immediate contexts of the prison. According to the terms and conditions of the detailed plan (2012) and the map of the land use zones of the Evin neighborhood, the neighborhood is located in the residence (R), activity (S), Protection (G), and mixed (M) zones. The number of authorized building floors in the residential area is at least two and maximum of four stories with an occupancy level of 30-60%. The role of the prison in social development: 43.8% of 126 families in the first zone, 30.9% of 89 households in the second zone, and 25.3% of 73 households in the Evin neighborhood felt safe in this study. Accordingly, the law enforcement-security function of the prison has increased the sense of public safety in the Evin neighborhood, especially in its immediate area. On the other hand, urban development plans limit the density of buildings and reduce the transactional value of land and housing in the first zone of the Evin neighborhood, which negatively impact the motivation and demand for living and activity in this neighborhood and play a role in the migration of residents out of it. In addition to changing the proportion of indigenous and immigrant residents in the neighborhood, this trend has also reduced their participation in the Public Affairs Department (cooperation with the council). The role of the prison in economic development: Urban development plans play a role in reducing the transactional value of land and housing, especially in its immediate zone, by limiting land use and building density to ensure prison security. This trend has reduced the participation and investment of citizens and private investors in the neighborhood. Conclusion     Through comprehensive and detailed plans, the prison influenced physical development (area, ratio, and per capita usage and density, the number of floors, and the level of building occupancy) and informally affected social development (sense of public safety and citizen participation in neighborhood affairs) and economic development (price and rent of land and housing and public investment of citizens and private sector) in the Evin neighborhood. To secure the prison, the density and number of floors and the height of the building in the Evin neighborhood in the vicinity of the prison are lower than the medium and farther zones. These restrictions play a role in reducing the trading value of the neighborhood's land and housing. These physical constraints and the consequences of the land and housing economy have had a negative impact on reducing motivation and demand for housing and activity as well as willingness to participate and invest by citizens and the private sector in the Evin neighborhood

Effectiveness of oral clonidine and gabapentin on peripheral neuropathy in diabetic patients in southwestern Iran: a randomized clinical trial

Abstract Background Peripheral neuropathy is not only the most prevalent consequence of diabetes but also the main reason for foot ulceration, disability, and amputation. Therefore, the current study aims to determine the effectiveness of oral clonidine and gabapentin on peripheral neuropathy in diabetic patients. Methods This 12-week, randomized, and parallel-group trial was conducted to compare the efficacy of oral clonidine and gabapentin with gabapentin alone in diabetic patients in southwest Iran during the first half of 2021. Thirty patients with type 2 diabetes with peripheral neuropathy as assessed by a visual analog scale (VAS) and divided into two groups of 15 patients, treated for up to three months. The data were analyzed using SPSS-21 software. In order to report the results, descriptive indices, independent t-test, one-way analysis of covariance (ANCOVA) and analysis of variance with repeated measures were used. Results The mean and standard deviation of the age of the participants in the clonidine + gabapentin group was equal to 50.20 ± 7.44, and in the gabapentin group was equal to 50.47 ± 7.57 (t = 0.10, P-value = 0.923). This research showed a significant difference between the clonidine + gabapentin group and with gabapentin group in terms of neuropathic pain and the severity of neuropathic pain (P < 0.001). Conclusions According to this research results, clonidine + gabapentin can reduce neuropathic pain and the severity of neuropathic pain in diabetic patients. Therefore, it is recommended that healthcare professionals with diabetes expertise prescribe these medications to reduce neuropathic pain and its severity. Trial registration This study was registered in the Iranian Clinical Trials System with the ID (IRCT20211106052983N1) on 14/01/2022

The burden and trend of diseases and their risk factors in Australia, 1990–2019: a systematic analysis for the Global Burden of Disease Study 2019

Background: A comprehensive understanding of temporal trends in the disease burden in Australia is lacking, and these trends are required to inform health service planning and improve population health. We explored the burden and trends of diseases and their risk factors in Australia from 1990 to 2019 through a comprehensive analysis of the Global Burden of Disease Study (GBD) 2019. Methods: In this systematic analysis for GBD 2019, we estimated all-cause mortality using the standardised GBD methodology. Data sources included primarily vital registration systems with additional data from sample registrations, censuses, surveys, surveillance, registries, and verbal autopsies. A composite measure of health loss caused by fatal and non-fatal disease burden (disability-adjusted life-years [DALYs]) was calculated as the sum of years of life lost (YLLs) and years of life lived with disability (YLDs). Comparisons between Australia and 14 other high-income countries were made. Findings: Life expectancy at birth in Australia improved from 77·0 years (95% uncertainty interval [UI] 76·9–77·1) in 1990 to 82·9 years (82·7–83·1) in 2019. Between 1990 and 2019, the age-standardised death rate decreased from 637·7 deaths (95% UI 634·1–641·3) to 389·2 deaths (381·4–397·6) per 100 000 population. In 2019, non-communicable diseases remained the major cause of mortality in Australia, accounting for 90·9% (95% UI 90·4–91·9) of total deaths, followed by injuries (5·7%, 5·3–6·1) and communicable, maternal, neonatal, and nutritional diseases (3·3%, 2·9–3·7). Ischaemic heart disease, self-harm, tracheal, bronchus, and lung cancer, stroke, and colorectal cancer were the leading causes of YLLs. The leading causes of YLDs were low back pain, depressive disorders, other musculoskeletal diseases, falls, and anxiety disorders. The leading risk factors for DALYs were high BMI, smoking, high blood pressure, high fasting plasma glucose, and drug use. Between 1990 and 2019, all-cause DALYs decreased by 24·6% (95% UI 21·5–28·1). Relative to similar countries, Australia's ranking improved for age-standardised death rates and life expectancy at birth but not for YLDs and YLLs between 1990 and 2019. Interpretation: An important challenge for Australia is to address the health needs of people with non-communicable diseases. The health systems must be prepared to address the increasing demands of non-communicable diseases and ageing. Funding: Bill &amp; Melinda Gates Foundation.</p

The burden of metabolic risk factors in North Africa and the Middle East, 1990–2019: findings from the Global Burden of Disease StudyResearch in context

Summary: Background: The objective of this study is to investigate the trends of exposure and burden attributable to the four main metabolic risk factors, including high systolic blood pressure (SBP), high fasting plasma glucose (FPG), high body-mass index (BMI), and high low-density lipoproteins cholesterol (LDL) in North Africa and the Middle East from 1990 to 2019. Methods: The data were retrieved from Global Burden of Disease Study 2019. Summary exposure value (SEV) was used for risk factor exposure. Burden attributable to each risk factor was incorporated in the population attributable fraction to estimate the total attributable deaths and disability-adjusted life-years (DALYs). Findings: While age-standardized death rate (ASDR) attributable to high-LDL and high-SBP decreased by 26.5% (18.6–35.2) and 23.4% (15.9–31.5) over 1990–2019, respectively, high-BMI with 5.1% (−9.0–25.9) and high-FPG with 21.4% (7.0–37.4) change, grew in ASDR. Moreover, age-standardized DALY rate attributed to high-LDL and high-SBP declined by 30.2% (20.9–39.0) and 25.2% (16.8–33.9), respectively. The attributable age-standardized DALY rate of high-BMI with 8.3% (−6.5–28.8) and high-FPG with 27.0% (14.3–40.8) increase, had a growing trend. Age-standardized SEVs of high-FPG, high-BMI, high-SBP, and high-LDL increased by 92.4% (82.8–103.3), 76.0% (58.9–99.3), 10.4% (3.8–18.0), and 5.5% (4.3–7.1), respectively. Interpretation: The burden attributed to high-SBP and high-LDL decreased during the 1990–2019 period in the region, while the attributable burden of high-FPG and high-BMI increased. Alarmingly, exposure to all four risk factors increased in the past three decades. There has been significant heterogeneity among the countries in the region regarding the trends of exposure and attributable burden. Urgent action is required at the individual, community, and national levels in terms of introducing effective strategies for prevention and treatment that account for local and socioeconomic factors. Funding: Bill &amp; Melinda Gates Foundation