Iranian Journal of Public Health最新文献

筛选
英文 中文
Evaluation of Genes and Molecular Pathways Involved in Pathogenesis of Sickle Cell Anemia: A Bioinformatics Analysis and Future Perspective. 评估镰状细胞性贫血发病机制中的基因和分子途径:生物信息学分析与未来展望》。
IF 1.3 4区 医学
Iranian Journal of Public Health Pub Date : 2024-06-01
Reza Maddah, Sareh Etemad, Bahareh Shateri Amiri, Hajarossadat Ghaderi, Hamidreza Zarei, Ferdos Faghihkhorasani, Hadi Rezaeeyan
{"title":"Evaluation of Genes and Molecular Pathways Involved in Pathogenesis of Sickle Cell Anemia: A Bioinformatics Analysis and Future Perspective.","authors":"Reza Maddah, Sareh Etemad, Bahareh Shateri Amiri, Hajarossadat Ghaderi, Hamidreza Zarei, Ferdos Faghihkhorasani, Hadi Rezaeeyan","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Sickle cell disease (SCD) is one of the hematological disorders characterized by a defect in the structure and function of globin chains. Hereditary factors play an important role in the pathogenesis of SCD. We aimed to investigate the genes and pathways related to the pathogenesis of SCD.</p><p><strong>Methods: </strong>Microarray dataset was downloaded from the Gene Expression Omnibus (GEO) database. LIMMA package of R-software was used to detect UP and Down regulations between SCD and control subjects. Enrichment analysis and Protein-protein interaction (PPI) networks were performed using GeneCodis4 software and GeneMANIA database, respectively. PrognoScan database was used to evaluate the relationship between the hub genes and patients' survival.</p><p><strong>Results: </strong>Overall, 447 DEGs were identified in SCD patients compared to control subjects. Out of 447 DEGs, 345 genes were up-regulated and 102 genes were down-regulated. Effective hub genes in SCD pathogenesis include <i>SLC4A1, DTL, EPB42, SNCA,</i> and <i>TOP2A</i>. In addition, hub genes had a high diagnostic value.</p><p><strong>Conclusion: </strong>Evaluation of hub genes in SCD can be used as a diagnostic panel to detect high-risk patients. In addition, by identifying the UP and Down stream pathways, treatment strategies in the monitoring and treatment of patients can be designed.</p>","PeriodicalId":49173,"journal":{"name":"Iranian Journal of Public Health","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11488559/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effects of Whole-Body Vibration Exercises on Muscle Responses and on Risk of Falls in Elderly Individuals: A Systematic Review. 全身振动运动对肌肉反应和老年人跌倒风险的影响:系统回顾
IF 1.3 4区 医学
Iranian Journal of Public Health Pub Date : 2024-06-01
Alexandre Gonçalves De Meirelles, Eloá Moreira-Marconi, Ygor Teixeira-Silva, Aline Cristina Gomes Santos, Vanessa Da Silva Caiado, Luelia Teles Jaques-Albuquerque, Ana Carolina Coelho-Oliveira, Marcia Cristina Moura-Fernandes, Laisa Liane Paineiras-Domingos, Thaís Porto Amadeu, Anelise Sonza, Liszt Palmeira De Oliveira, Adérito Seixas, Mario Bernardo-Filho, Danúbia Da Cunha De Sá-Caputo
{"title":"Effects of Whole-Body Vibration Exercises on Muscle Responses and on Risk of Falls in Elderly Individuals: A Systematic Review.","authors":"Alexandre Gonçalves De Meirelles, Eloá Moreira-Marconi, Ygor Teixeira-Silva, Aline Cristina Gomes Santos, Vanessa Da Silva Caiado, Luelia Teles Jaques-Albuquerque, Ana Carolina Coelho-Oliveira, Marcia Cristina Moura-Fernandes, Laisa Liane Paineiras-Domingos, Thaís Porto Amadeu, Anelise Sonza, Liszt Palmeira De Oliveira, Adérito Seixas, Mario Bernardo-Filho, Danúbia Da Cunha De Sá-Caputo","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>This systematic review was conducted to assess the effects of whole-body vibration (WBV) exercises on muscles responses and on risk of falls in elderly individuals.</p><p><strong>Methods: </strong>Searches were conducted in MEDLINE/PubMed, Physiotherapy Evidence Database (PEDro), Web of Science, CINAHL and Scopus databases in Feb 2023 to identify studies with the potential to be included according to the eligibility criteria. Relevant data from included studies were extracted. The methodological quality was evaluated for each study included by PEDro scale, risk of bias (Cochrane Collaboration's tool), and the level of evidence by National Health and Medical Research Council (NHMRC).</p><p><strong>Results: </strong>Six randomized clinical trial (RCT) were included. In respect of the level of evidence, all studies were classified as Level II (NHMRC) and regarding to the methodological quality (PEDro scale), four studies were considered 'high' and two were 'fair'. Two publications presented low risk of bias, three with high risk of bias and one unclear. All the selected studies reported positive effects and improvements on risk of falls and muscle response after WBV exercise.</p><p><strong>Conclusion: </strong>WBV exercise may contribute to reduce the risk of falls and improve muscle responses in the elderly individuals.</p>","PeriodicalId":49173,"journal":{"name":"Iranian Journal of Public Health","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11488547/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effect of an Intervention Based on the Health Action Process Approach Model on Mobile Phone Addiction in Adolescents. 基于健康行动过程方法模型的干预对青少年手机成瘾的影响。
IF 1.3 4区 医学
Iranian Journal of Public Health Pub Date : 2024-06-01
Li Zhang, Xu Chen, Liang Zhu
{"title":"Effect of an Intervention Based on the Health Action Process Approach Model on Mobile Phone Addiction in Adolescents.","authors":"Li Zhang, Xu Chen, Liang Zhu","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Mobile phone addiction in adolescents is a serious social problem that not only negatively affects physical and mental health but also hinders social stability and development. However, studies on interventions for mobile phone addiction in adolescents are still few. Therefore, exploring interventions for mobile phone addiction in adolescents and scrutinizing the corresponding mechanism of action are crucial.</p><p><strong>Methods: </strong>A questionnaire survey was conducted on 800 adolescents who were recruited using random sampling from communities in Hubei Province, China in 2023, and 232 of them were identified to have mobile phone addiction. Then, they were randomly divided into the experiment group, comprising 119 members, and the control group, composed of 113 members. The experiment group was given a 3-month intervention under the Health Action Process Approach (HAPA) model, whereas the control group was given no intervention.</p><p><strong>Results: </strong>This intervention significantly reduced the level of mobile phone addiction in adolescents (<i>P</i><0.05). It also significantly improved self-efficacy in adolescents with mobile phone addiction (<i>P</i><0.05). The intervention can significantly improved life satisfaction in adolescents with mobile phone addiction (<i>P</i><0.05). Self-efficacy and life satisfaction had a chain mediating effect (<i>P</i><0.001).</p><p><strong>Conclusion: </strong>The HAPA model is conducive to alleviating mobile phone addiction. It further enhances the intervention effect by improving self-efficacy and life satisfaction in adolescents.</p>","PeriodicalId":49173,"journal":{"name":"Iranian Journal of Public Health","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11488554/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Trend Analysis of Unintentional Fall Mortality and Years of Life Lost in the Fars Province of Iran, 2004-2019. 2004-2019 年伊朗法尔斯省意外跌倒死亡率和寿命损失年数趋势分析。
IF 1.3 4区 医学
Iranian Journal of Public Health Pub Date : 2024-06-01
Habibollah Azarbakhsh, Fatemeh Jafari, Seyed Sina Dehghani, Jafar Hassanzadeh, Maryam Janfada, Alireza Mirahmadizadeh
{"title":"Trend Analysis of Unintentional Fall Mortality and Years of Life Lost in the Fars Province of Iran, 2004-2019.","authors":"Habibollah Azarbakhsh, Fatemeh Jafari, Seyed Sina Dehghani, Jafar Hassanzadeh, Maryam Janfada, Alireza Mirahmadizadeh","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Unintentional falls are one of the main causes of death and a significant burden on victims, families, and communities. This study aimed to determine the trend analysis of mortality rate and years of life lost (YLL) due to unintentional falls in Fars Province, Iran.</p><p><strong>Methods: </strong>All deaths due to unintentional fall in Fars Province, central Iran from the electronic population-based death registration system (EDRS) were obtained. Crude and age-standardized mortality rate, YLL and YLL rate data were calculated and to examine the trend, joinpoint regression was used.</p><p><strong>Results: </strong>During the 16-year study period (2004-2019), 1816 deaths due to falls occurred in Fars Province. Crude mortality rate had stable trend in men and increasing trend in women. The total years of life lost due to falls, were 25,437 in men and 5,720 in women. According to the joinpoint regression analysis, the 16-year trend of YLL rate due to premature mortality was decreasing in males. The annual percent change (APC) was -2.8% (95% CI -4.5 to -1.0, <i>P</i>=0.005). However, there were stable trends for females, APC was 3.5% (95% CI -1.8 to 9.1, <i>P</i>=0.181).</p><p><strong>Conclusion: </strong>Due to the increase in mortality caused by falls in women and stable trend in men, there is an urgent need to plan and implement preventive strategies to reduce the incidence of injuries caused by falls. Home and behavioral modifications such as increasing home lighting, providing handrails on stairs and bathrooms, and educating the people may play an important role in reducing fall deaths.</p>","PeriodicalId":49173,"journal":{"name":"Iranian Journal of Public Health","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11488564/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478801","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Quality of Life of Colorectal Cancer Patients: A Literary Review. 大肠癌患者的生活质量:文学评论。
IF 1.3 4区 医学
Iranian Journal of Public Health Pub Date : 2024-06-01
Kuantkan Zhabagin, Almagul Zhabagina, Gulnar Shalgumbayeva, Dina Toleutayeva, Ainur Baissalbayeva, Tolegen Toleutayev, Zhansaya Telmanova, Nurbek Igissin, Malcolm Moore
{"title":"Quality of Life of Colorectal Cancer Patients: A Literary Review.","authors":"Kuantkan Zhabagin, Almagul Zhabagina, Gulnar Shalgumbayeva, Dina Toleutayeva, Ainur Baissalbayeva, Tolegen Toleutayev, Zhansaya Telmanova, Nurbek Igissin, Malcolm Moore","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Colorectal cancer (CRC) is a major contributor to global cancer cases and deaths, making it a significant public health concern. As the number of CRC survivors continues to rise, understanding the impact of CRC and its treatment on their quality of life (QoL) has become increasingly important. The determinants of QoL in CRC patients are multifaceted and include physical health, physical fitness, physical activity, healthy eating, psychological health, social support, the availability of high-quality medical care, and QoL at the end of life. These factors interact to shape the overall well-being of CRC survivors. To enhance the QoL of CRC patients, a comprehensive approach is needed. This includes tailoring treatments to individual patient characteristics, providing psychological support and symptom management, promoting post-treatment rehabilitation, organizing support groups, emphasizing early detection, and effectively managing CRC-related symptoms. Addressing these aspects can significantly improve the QOL and well-being of CRC survivors, helping them adapt to life after treatment and thrive in the face of the challenges they may encounter.</p>","PeriodicalId":49173,"journal":{"name":"Iranian Journal of Public Health","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11488553/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Environmental Scanning Model in Health System and Implementation Steps: A Scoping Review. 卫生系统中的环境扫描模式及实施步骤:范围审查。
IF 1.3 4区 医学
Iranian Journal of Public Health Pub Date : 2024-06-01
Khalil Kalavani, Mohammad Hossein Mehrolhassani, Abdurrahim Pedram, Abbas Vosoogh-Moghaddam, Reza Dehnavieh
{"title":"Environmental Scanning Model in Health System and Implementation Steps: A Scoping Review.","authors":"Khalil Kalavani, Mohammad Hossein Mehrolhassani, Abdurrahim Pedram, Abbas Vosoogh-Moghaddam, Reza Dehnavieh","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Various studies have highlighted the usefulness of environmental scanning in assessing community needs and developing programs and policies. We aimed to find the most practical model of using such scanning in the healthcare literature.</p><p><strong>Methods: </strong>We conducted a scoping review based on the PRISMA guideline to ensure a comprehensive and systematic approach in 2023. To develop a comprehensive search strategy, we worked with experienced librarians and the research team. We then completed a search of five electronic databases, including Web of Science, PubMed, Scopus, Cochrane, and Embase databases. Two independent reviewers screened titles, abstracts, and full-text articles to select studies that met our inclusion criteria. The data was then analyzed and presented in a tabular format to facilitate easy interpretation and understanding.</p><p><strong>Results: </strong>We retrieved 7243 articles from various databases and sources. After removing 2755 articles due to duplication, we excluded 4380 more articles during the title and abstract screening phase. In the full-text review process, we ruled out an additional 103 articles. Finally, only 5 articles that were directly relevant to the study were included. The model that Bednar and colleagues have in their article is the latest model. Most studies propose six main steps to conduct an environmental survey in the healthcare system.</p><p><strong>Conclusion: </strong>Since the most important task of managers and policy makers of the health system is to make decisions, they can use our proposed model to collect, analyze and interpret data, identify important patterns and trends so that they can make evidence-based decisions.</p>","PeriodicalId":49173,"journal":{"name":"Iranian Journal of Public Health","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11488556/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Physical Activity Status and Body Composition of Adolescents with Borderline Intellectual Functioning in South Korea. 韩国边缘智力功能青少年的体育活动状况和身体组成。
IF 1.3 4区 医学
Iranian Journal of Public Health Pub Date : 2024-06-01
Jong Sung Kim, Woo Yeul Baek
{"title":"Physical Activity Status and Body Composition of Adolescents with Borderline Intellectual Functioning in South Korea.","authors":"Jong Sung Kim, Woo Yeul Baek","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":49173,"journal":{"name":"Iranian Journal of Public Health","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11488565/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485915","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Investigating the Causes of Neonatal Mortality: An Umbrella Review. 调查新生儿死亡原因:综述。
IF 1.3 4区 医学
Iranian Journal of Public Health Pub Date : 2024-06-01
Elham Amini, Mohammad Heidarzadeh, Leila Ahmadian, Shahram Ariafar, Mohammadreza Amiresmaili
{"title":"Investigating the Causes of Neonatal Mortality: An Umbrella Review.","authors":"Elham Amini, Mohammad Heidarzadeh, Leila Ahmadian, Shahram Ariafar, Mohammadreza Amiresmaili","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Neonatal mortality remains a critical global challenge, with preventable instances prevailing. The initial stride in mitigating neonatal mortality involves elucidating its underlying causes.</p><p><strong>Methods: </strong>This study utilized an umbrella review approach to discern factors associated with neonatal mortality. Five international databases, namely Pub Med, Web of Science, Scopus, CINAHL, and EMBASE, were meticulously searched to achieve this.</p><p><strong>Results: </strong>The initial search yielded 12,631 articles using a search strategy centered on keywords related to factors contributing to neonatal mortality. Ultimately, 95 articles met the criteria incorporated into this study.</p><p><strong>Conclusion: </strong>This study endeavors to identify the primary risk factors contributing to neonatal mortality. The discerned risk factors have been systematically categorized into four groups: maternal factors, neonatal factors, aspects linked to healthcare systems, and socio-economic factors. As such, it is imperative for policymakers to take heed of these identified risk factors and formulate comprehensive strategies encompassing both long-term and short-term initiatives. Effective interventions spanning various sectors are crucial for the prevention of neonatal mortality.</p>","PeriodicalId":49173,"journal":{"name":"Iranian Journal of Public Health","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11488557/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478790","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Adjunctive Drug-Loaded Gel in the Treatment of Periodontitis: A Systematic Evaluation and Meta-Analysis. 治疗牙周炎的辅助药物凝胶:系统评估与元分析》。
IF 1.3 4区 医学
Iranian Journal of Public Health Pub Date : 2024-06-01
Zhige Li, Xin Yang, Jiao Wang, Ziyang Qin, Yucheng Meng, Baoping Zhang
{"title":"Adjunctive Drug-Loaded Gel in the Treatment of Periodontitis: A Systematic Evaluation and Meta-Analysis.","authors":"Zhige Li, Xin Yang, Jiao Wang, Ziyang Qin, Yucheng Meng, Baoping Zhang","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>This meta-analysis aimed to systematically investigate the efficacy of drug-loaded gel adjuncts in the treatment of periodontitis.</p><p><strong>Methods: </strong>A comprehensive search was conducted in six databases, i.e., the China National Knowledge Infrastructure, WanFang Data, VIP Chinese Science and Technology Periodical Database, China Biology Medicine Disc, Cochrane Library, PubMed, and Web of Science, from the inception until Jun 2023. The search focused on randomized controlled trials that examined the application of drug-loaded gels in the treatment of periodontitis. Periodontal probing depth and clinical attachment level were the primary and secondary outcomes, respectively. Stata 15.0 and Review Manager 5.4 were employed to perform the meta-analysis using the selected articles that met the predefined criteria.</p><p><strong>Results: </strong>This study included 16 randomized controlled trials involving 1146 participants. Subgroup analyses based on the follow-up period revealed that the gel-based drug-assisted subgingival root planning intervention had more favorable effects on periodontal probing depth (standardized mean difference=0.50, 95% confidence interval=[0.32, 0.68], <i>I</i> <sup><i>2</i></sup> =56.0%, <i>P</i>=0.001) and clinical attachment level (standardized mean difference=0.47, 95% confidence interval=[0.29, 0.66], <i>I</i> <sup><i>2</i></sup> =57.0%, <i>P</i>=0.0007) than the subgingival root planning intervention alone. However, subgroup analysis based on the action mechanism of gel drugs showed no statistically significant differences in periodontal probing depth and clinical attachment level between groups.</p><p><strong>Conclusion: </strong>The application of the drug-loaded gel as adjunctive therapy for periodontitis effectively reduced periodontal probing depth and promoted clinical attachment level recovery. The findings provide evidence-based support for the efficacy, security, and rational use of drug-loaded gel in the treatment of periodontitis.</p>","PeriodicalId":49173,"journal":{"name":"Iranian Journal of Public Health","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11488560/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478769","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical Presentation and WES Analysis of a Large Iranian Pedigree in Five Successive Generation Affected to Sever Multiple Synostosis 2 (SYNS2, Farhud Type). 伊朗一个连续五代受严重多发性骨骺2(SYNS2,Farhud型)影响的大型父系的临床表现和WES分析。
IF 1.3 4区 医学
Iranian Journal of Public Health Pub Date : 2024-06-01
Dariush D Farhud, Marjan Zarif-Yeganeh, Hajar Arian, Majid Kashi, Tayebeh Rezaee
{"title":"Clinical Presentation and WES Analysis of a Large Iranian Pedigree in Five Successive Generation Affected to Sever Multiple Synostosis 2 (SYNS2, Farhud Type).","authors":"Dariush D Farhud, Marjan Zarif-Yeganeh, Hajar Arian, Majid Kashi, Tayebeh Rezaee","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Bone Morphogenetic Proteins and the related Growth and Differentiation Factors (GDFs) are much conserved signaling proteins. GDF5 is pivotal for skeletal development. Several skeletal dysplasia and malformation syndromes are known as a result of mutations in <i>GDF5</i>. Multiple Synostosis Syndrome2 (SYNS2) is characterized by tarsal-carpal coalition, humeroradial synostosis, brachydactyly, and proximal symphalangism. In this study, we analyzed a large Iranian pedigree affected with a new type of SYNS2 (Farhud Type) in five successive generations.</p><p><strong>Methods: </strong>In this family-based study (1982-2022), Genetic linkage analysis of the pedigree (58affected, 62healthy) excluded the locus on chromosome 17q21-q22 in our previous study. Thus, we focused on 20q11.22 locus and <i>GDF5</i> gene. Genetic investigations were performed on 16 patients with SYNS2 and 40 healthy individuals.</p><p><strong>Results: </strong>Whole-exome-sequencing results identified a heterozygote missense mutation in exon2 of <i>GDF5</i> (NG_008076.1:g.9239G>A, NM_000557.2:c.1424G>A, S475N, rs121909347). This mutation was found in all patients but not in the unaffected individuals. This missense mutation is notable because S475 is strictly conserved among different species, and it is located in a highly conserved and active mature domain of GDF5 (phyloP100way=7.64). The corresponding defect in GDF5 may have unknown interaction with normal active 3<sup>rd</sup> and 4<sup>th</sup> structure of the product. Further bioinformatics study (amino acid multiple alignments) showed that the S475 is a much-conserved residue in many different species.</p><p><strong>Conclusion: </strong>These results introduce a new role of <i>GDF5</i> in pathogenesis of a SYNS2 (Farhud Type), considered in genetic counseling, prenatal diagnosis, and as a potential target for molecular therapy, if possible.</p>","PeriodicalId":49173,"journal":{"name":"Iranian Journal of Public Health","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11488561/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478771","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信