International Journal of Preventive Medicine最新文献

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Neuroprotective Effects of Sodium-Glucose Cotransporter-2 (SGLT2) Inhibitors (Gliflozins) on Diabetes-Induced Neurodegeneration and Neurotoxicity: A Graphical Review. 葡萄糖钠转运体 2 (SGLT2) 抑制剂(格列酮类)对糖尿病诱导的神经变性和神经毒性的神经保护作用:图表综述。
IF 1.7
International Journal of Preventive Medicine Pub Date : 2024-08-06 eCollection Date: 2024-01-01 DOI: 10.4103/ijpvm.ijpvm_5_23
Mina Gholami, Natalie Coleman-Fuller, Mahsa Salehirad, Sepideh Darbeheshti, Majid Motaghinejad
{"title":"Neuroprotective Effects of Sodium-Glucose Cotransporter-2 (SGLT2) Inhibitors (Gliflozins) on Diabetes-Induced Neurodegeneration and Neurotoxicity: A Graphical Review.","authors":"Mina Gholami, Natalie Coleman-Fuller, Mahsa Salehirad, Sepideh Darbeheshti, Majid Motaghinejad","doi":"10.4103/ijpvm.ijpvm_5_23","DOIUrl":"10.4103/ijpvm.ijpvm_5_23","url":null,"abstract":"<p><p>Diabetes is a chronic endocrine disorder that negatively affects various body systems, including the nervous system. Diabetes can cause or exacerbate various neurological disorders, and diabetes-induced neurodegeneration can involve several mechanisms such as mitochondrial dysfunction, activation of oxidative stress, neuronal inflammation, and cell death. In recent years, the management of diabetes-induced neurodegeneration has relied on several types of drugs, including sodium-glucose cotransporter-2 <b>(</b>SGLT2) inhibitors, also called gliflozins. In addition to exerting powerful effects in reducing blood glucose, gliflozins have strong anti-neuro-inflammatory characteristics that function by inhibiting oxidative stress and cell death in the nervous system in diabetic subjects. This review presents the molecular pathways involved in diabetes-induced neurodegeneration and evaluates the clinical and laboratory studies investigating the neuroprotective effects of gliflozins against diabetes-induced neurodegeneration, with discussion about the contributing roles of diverse molecular pathways, such as mitochondrial dysfunction, oxidative stress, neuro-inflammation, and cell death. Several databases-including Web of Science, Scopus, PubMed, Google Scholar, and various publishers, such as Springer, Wiley, and Elsevier-were searched for keywords regarding the neuroprotective effects of gliflozins against diabetes-triggered neurodegenerative events. Additionally, anti-neuro-inflammatory, anti-oxidative stress, and anti-cell death keywords were applied to evaluate potential neuronal protection mechanisms of gliflozins in diabetes subjects. The search period considered valid peer-reviewed studies published from January 2000 to July 2023. The current body of literature suggests that gliflozins can exert neuroprotective effects against diabetes-induced neurodegenerative events and neuronal dysfunction, and these effects are mediated via activation of mitochondrial function and prevention of cell death processes, oxidative stress, and inflammation in neurons affected by diabetes. Gliflozins can confer neuroprotective properties in diabetes-triggered neurodegeneration, and these effects are mediated by inhibiting oxidative stress, inflammation, and cell death.</p>","PeriodicalId":14342,"journal":{"name":"International Journal of Preventive Medicine","volume":"15 ","pages":"28"},"PeriodicalIF":1.7,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11376549/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142140064","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Screening Tools for Obstructive Sleep Apnea in Pregnant Women: An Extended and Updated Systematic Review and Meta-analysis. 孕妇阻塞性睡眠呼吸暂停筛查工具:扩展和更新的系统回顾与元分析》。
IF 1.7
International Journal of Preventive Medicine Pub Date : 2024-08-06 eCollection Date: 2024-01-01 DOI: 10.4103/ijpvm.ijpvm_88_23
Babak Amra, Masoud Mansouri, Forogh Soltaninejad, Awat Feizi, Marta Kaminska
{"title":"Screening Tools for Obstructive Sleep Apnea in Pregnant Women: An Extended and Updated Systematic Review and Meta-analysis.","authors":"Babak Amra, Masoud Mansouri, Forogh Soltaninejad, Awat Feizi, Marta Kaminska","doi":"10.4103/ijpvm.ijpvm_88_23","DOIUrl":"10.4103/ijpvm.ijpvm_88_23","url":null,"abstract":"<p><p>The prevalence of obstructive sleep apnea syndrome (OSA) increases in women during pregnancy and negatively affects maternal and fetal outcomes. The updated systematic review and meta-analysis aimed to evaluate the validity of the Berlin, STOP-Bang, and Epworth sleepiness scale (ESS) questionnaires in detecting OSA in pregnant women. PubMed, Embase, and Web of Science were searched systematically up to March 2022. After eligible studies inclusion, two independent reviewers extracted demographic and clinical data. Bivariate random effects models were used to estimate the pooled accuracy measures including sensitivity and specificity, positive (PPV) and negative predictive values (NPVs), diagnostic odds ratio (DOR), and receiver operating characteristic curve (ROC) curve. We included 8 studies including 710 pregnant women with suspected OSA. The performance values of Berlin, STOP-Bang, and ESS questionnaires were as follows: the pooled sensitivity were 61% (95% confidence interval (CI): 40%-80%), 59% (95% CI: 49%-69%), and 29%, (95% CI: 10%-60%); pooled specificity were 61% (95% CI: 42%-78%), 80% (95% CI: 55%-93%), and 80% (95% CI: 50%-94%); pooled PPVs were 60% (95% CI: 0.49-0.72), 73% (95% CI: 61%-85%), and 59% (95% CI: 31%-87%); pooled NPVs were 60% (95% CI: 0.49-0.71), 65% (95% CI: 54%-76%), and 53% (95% CI: 41%-64%); and pooled DORs were 3 (95% CI: 1-5), 6 (95% CI: 2-19), and 2 (95% CI: 1-3), respectively. It seems that the Berlin, STOP-Bang, and ESS questionnaires had poor to moderate sensitivity and specificity in pregnancy, with the ESS showing the worst characteristics. Further studies are required to evaluate the performance of alternative screening methods for OSA in pregnancy.</p>","PeriodicalId":14342,"journal":{"name":"International Journal of Preventive Medicine","volume":"15 ","pages":"31"},"PeriodicalIF":1.7,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11376534/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142140066","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Digital Technology: A Boon or Bane for Children's Well-Being. 数字技术:儿童福祉的福音还是祸根?
IF 1.7
International Journal of Preventive Medicine Pub Date : 2024-08-06 eCollection Date: 2024-01-01 DOI: 10.4103/ijpvm.ijpvm_42_23
D C Vidya, A Kalaivani, P Rekha
{"title":"Digital Technology: A Boon or Bane for Children's Well-Being.","authors":"D C Vidya, A Kalaivani, P Rekha","doi":"10.4103/ijpvm.ijpvm_42_23","DOIUrl":"10.4103/ijpvm.ijpvm_42_23","url":null,"abstract":"","PeriodicalId":14342,"journal":{"name":"International Journal of Preventive Medicine","volume":"15 ","pages":"30"},"PeriodicalIF":1.7,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11376498/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142140061","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Prevalence of Chronic Kidney Disease Risk Factors and their Population Attributable Risks in Yazd City, Iran: A Letter-to-Editor. 伊朗亚兹德市慢性肾脏病风险因素的普遍性及其人口归因风险:致编辑的一封信
IF 1.7
International Journal of Preventive Medicine Pub Date : 2024-08-06 eCollection Date: 2024-01-01 DOI: 10.4103/ijpvm.ijpvm_27_23
Kousar Zardosht, Seyedeh M Namayandeh
{"title":"The Prevalence of Chronic Kidney Disease Risk Factors and their Population Attributable Risks in Yazd City, Iran: A Letter-to-Editor.","authors":"Kousar Zardosht, Seyedeh M Namayandeh","doi":"10.4103/ijpvm.ijpvm_27_23","DOIUrl":"10.4103/ijpvm.ijpvm_27_23","url":null,"abstract":"","PeriodicalId":14342,"journal":{"name":"International Journal of Preventive Medicine","volume":"15 ","pages":"29"},"PeriodicalIF":1.7,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11376496/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142140077","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
COVID-19's Effect in Pregnancy and Vertical Transmission: A Systematic Review. COVID-19 对妊娠和垂直传播的影响:系统回顾。
IF 1.7
International Journal of Preventive Medicine Pub Date : 2024-08-05 eCollection Date: 2024-01-01 DOI: 10.4103/ijpvm.ijpvm_245_23
Fatemeh Abbasi, Minoo Movahedi, Leila Mousavi Seresht, Farzaneh Nazari, Zahra Naeiji, Taraneh Arbabzadeh, Somayeh Khanjani
{"title":"COVID-19's Effect in Pregnancy and Vertical Transmission: A Systematic Review.","authors":"Fatemeh Abbasi, Minoo Movahedi, Leila Mousavi Seresht, Farzaneh Nazari, Zahra Naeiji, Taraneh Arbabzadeh, Somayeh Khanjani","doi":"10.4103/ijpvm.ijpvm_245_23","DOIUrl":"10.4103/ijpvm.ijpvm_245_23","url":null,"abstract":"<p><p>The COVID-19 pandemic has significantly impacted public health and the global economy. It has also been found to have potential effects on pregnancy, neonatal outcomes, and mother-to-infant transmission. This systematic review aims to provide an overview of the maternal and perinatal outcomes associated with pregnancy. A systematic review study was conducted by searching the PubMed, MEDLINE, Embase, and Web of Science databases according to PRISMA guidelines from December 1, 2019, to December 23, 2022. The results indicate that there was an increase in the rate of cesarean delivery among mothers infected with SARS-CoV-2. However, the study found that the mode of delivery for pregnant women infected with SARS-CoV-2 did not increase or decrease the risk of infection for newborns. During the COVID-19 pandemic, there has been an increase in maternal and infant mortality rates, as well as stillbirths and ruptured ectopic pregnancies. Research has shown that SARS-CoV-2 can potentially be transmitted during pregnancy, although vertical transmission is rare. However, additional data are needed to investigate this adverse effect, especially regarding reports of disease recurrence in mothers infected with SARS-CoV-2.</p>","PeriodicalId":14342,"journal":{"name":"International Journal of Preventive Medicine","volume":"15 ","pages":"25"},"PeriodicalIF":1.7,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11376542/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142140060","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
National Quality Policy and Strategy of the Health Services in Health Systems of Developing Countries: A Scoping Review. 发展中国家卫生系统中卫生服务的国家质量政策和战略:范围审查》。
IF 1.7
International Journal of Preventive Medicine Pub Date : 2024-08-05 eCollection Date: 2024-01-01 DOI: 10.4103/ijpvm.ijpvm_397_22
Razieh Fallah, Mohammadreza Maleki, Aidin Aryankhesal, Aliakbar Haghdoost
{"title":"National Quality Policy and Strategy of the Health Services in Health Systems of Developing Countries: A Scoping Review.","authors":"Razieh Fallah, Mohammadreza Maleki, Aidin Aryankhesal, Aliakbar Haghdoost","doi":"10.4103/ijpvm.ijpvm_397_22","DOIUrl":"10.4103/ijpvm.ijpvm_397_22","url":null,"abstract":"<p><p>It has always been argued that countries should not be inactive about the quality of health services. Therefore, a clear policy needs to be created regarding how quality of health services should be. The present scoping review was aimed to identify and map the available evidence regarding the National Quality Policy and Strategy (NQPS) of the health services in health systems of developing countries, graphically and tabularly. We followed the published methodological guidance of the Joanna Briggs Institute reviews. Also, we employed a narrative thematic synthesis integrated with the systematic analysis using the World Health Organization's approach of NQPS, and the multiple-streams framework of Kingdon. We included 33 records that met the inclusion criteria; these records were published between 2010 and 2019. Meanwhile, government documents were the most frequent records (61%). Zimbabwe, Indonesia, and Sudan were the most frequent locations (each one 8%). The Ministry of Health was in charge of the ultimate responsibility for developing the NQPS in all identified countries. Besides, 82% of the countries were in the development phase of NQPS formulation, and convergence of three streams was observed in Indonesia, Sudan, and Tanzania. It seems that the African countries were informed about their quality issues, and the need for having NQPS have been more popular with them. We recommend that future research focuses on examining NQPS in terms of prioritizing in the agenda-setting phase of the policy-making cycle, and also, document analysis of all identified NQPS based on the core eight interdependent elements related to the NQPS approach.</p>","PeriodicalId":14342,"journal":{"name":"International Journal of Preventive Medicine","volume":"15 ","pages":"26"},"PeriodicalIF":1.7,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11376527/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142140063","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Impact of the Health Transformation Plan on Hospital Performance Indicators: A Meta-analysis Study in an EMRO Region Country. 卫生转型计划对医院绩效指标的影响:EMRO 地区国家的元分析研究。
IF 1.7
International Journal of Preventive Medicine Pub Date : 2024-08-05 eCollection Date: 2024-01-01 DOI: 10.4103/ijpvm.ijpvm_69_23
Fatemeh Setoodehzadeh, Alireza Ansari-Moghaddam, Mohammad Khammarnia, Fatemeh Bagher Barahouei
{"title":"The Impact of the Health Transformation Plan on Hospital Performance Indicators: A Meta-analysis Study in an EMRO Region Country.","authors":"Fatemeh Setoodehzadeh, Alireza Ansari-Moghaddam, Mohammad Khammarnia, Fatemeh Bagher Barahouei","doi":"10.4103/ijpvm.ijpvm_69_23","DOIUrl":"10.4103/ijpvm.ijpvm_69_23","url":null,"abstract":"<p><p>To adapt to the changing conditions and respond to the needs of society, health systems need continuous changes and reforms in their structure and performance, and subsequently, they need to evaluate their indicators. Therefore, this study aimed to investigate the impact of the health system transformation plan (HTP) on the functional indicators and efficiency of hospitals in a country in the Middle East region (Iran). A systematic literature review was conducted according to the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines using the online databases Medline, EMBASE, Scopus, Pubmed, SID, Magiran, and Medlib from 2013 to 2022 using a combination of medical subject heading terms ('health system transformation plan [Mesh] OR 'health reform [Mesh] OR implementation of the health transformation plan [Mesh] ''AND ('performance indicators' [Mesh]) ''AND ('Iran' [Mesh]). STATA version 11 were used for data analysis. A total of 20 reports (cross-sectional, cohort, and case-control) were identified for this study. The results showed that after the HTP, the indices of bed occupancy rate and bed turnover rate have increased and the index of bed turnover distance has decreased. On the other hand, after the implementation of this plan in hospitals, the average of patients' length of stay has increased. The implementation of HTP has improved most of the performance indicators of hospitals and has generally led to an increase in the productivity of hospitals compared to that before the implementation of the plan. However, efforts to strengthen weak performance indicators and identify effective indicators along with adopting correct policies to increase the overall efficiency of hospitals can be effective in improving HTP.</p>","PeriodicalId":14342,"journal":{"name":"International Journal of Preventive Medicine","volume":"15 ","pages":"24"},"PeriodicalIF":1.7,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11376520/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142140076","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Adaptation of Clinical Practice Guideline for Assessment of Liver Fibrosis in Patients with Non Alcoholic Fatty Liver Disease in Isfahan Province. 伊斯法罕省《非酒精性脂肪肝患者肝纤维化评估临床实践指南》改编。
IF 1.7
International Journal of Preventive Medicine Pub Date : 2024-08-05 eCollection Date: 2024-01-01 DOI: 10.4103/ijpvm.ijpvm_284_22
Sayed Mohammad Hosseeini, Mohammad Jafari, Marzieh Tahmasebi, Payman Adibi
{"title":"Adaptation of Clinical Practice Guideline for Assessment of Liver Fibrosis in Patients with Non Alcoholic Fatty Liver Disease in Isfahan Province.","authors":"Sayed Mohammad Hosseeini, Mohammad Jafari, Marzieh Tahmasebi, Payman Adibi","doi":"10.4103/ijpvm.ijpvm_284_22","DOIUrl":"10.4103/ijpvm.ijpvm_284_22","url":null,"abstract":"<p><p>Non-alcoholic fatty liver disease (NAFLD) refers to the presence of hepatic steatosis (accumulation of fat in the liver to over 5% of its weight) in the absence of secondary causes of fat accumulation in the liver such as excessive alcohol use. NAFLD is divided into two types: non-alcoholic fatty liver (NAFL) and non-alcoholic steatohepatitis (NASH). Therefore, in this clinical guideline, we sought to determine general and important policies for this disease and modify its managment approaches. We adapted this guideline for the management of NAFLD in Isfahan Province. This guideline was developed by clinical appraisal and review of the evidence, available clinical guidelines, and in consultation with members of the Isfahan Chamber of the Iranian Association of Gastroenterology and Hepatology. Biopsy is recommended as the most reliable method (gold standard) to diagnose steatohepatitis and fibrosis in patients with NAFLD. NAFLD fibrosis score (NFS) and fibrosis-4 (FIB-4) are recommended as the test with the highest predictive value for advanced fibrosis in patients with NAFLD compared to other serologic tests. Among the noninvasive methods used to assess liver fibrosis, transient elastography (TE) is preferable to other methods.</p>","PeriodicalId":14342,"journal":{"name":"International Journal of Preventive Medicine","volume":"15 ","pages":"27"},"PeriodicalIF":1.7,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11376528/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142142338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mutation Analysis of PAH Gene in Phenylketonuria Patients from the North of Iran: Identification of Three Novel Pathogenic Variants. 伊朗北部苯丙酮尿症患者 PAH 基因突变分析:鉴定三种新型致病变异基因
IF 1.7
International Journal of Preventive Medicine Pub Date : 2024-07-17 eCollection Date: 2024-01-01 DOI: 10.4103/ijpvm.ijpvm_50_23
Hossein Jalali, Daniel Zamanfar, Muhammad Amirzadegan, Farshide Ghadami, Mahan Mahdavi, Mohammad Reza Mahdavi
{"title":"Mutation Analysis of PAH Gene in Phenylketonuria Patients from the North of Iran: Identification of Three Novel Pathogenic Variants.","authors":"Hossein Jalali, Daniel Zamanfar, Muhammad Amirzadegan, Farshide Ghadami, Mahan Mahdavi, Mohammad Reza Mahdavi","doi":"10.4103/ijpvm.ijpvm_50_23","DOIUrl":"10.4103/ijpvm.ijpvm_50_23","url":null,"abstract":"<p><strong>Background: </strong>There are more than 1100 different pathogenic variants in the phenylalanine hydroxylase (<i>PAH</i>) gene that are responsible for phenylketonuria (PKU) diseases, and the spectrum of these mutations varies in different ethnic groups. The aim of the present study was to identify the frequency of pathogenic variants in all 13 exons of the <i>PAH</i> gene among patients with PKU in Mazandaran and Golestan provinces in the north of Iran.</p><p><strong>Methods: </strong>Forty unrelated PKU patients from Mazandaran and Golestan provinces were enrolled in the study. Genomic DNA was extracted from leukocytes using a Qiagen DNA extraction kit and polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP), and Sanger sequencing methods were applied to detect the variants. In the case of new variants, the InterVar online tool (PMID: 28132688) was used to classify the variants.</p><p><strong>Results: </strong>Twenty-one different pathogenic variants were observed among the 40 investigated patients. The c.106611G>A variant had the highest frequency (27.5%) in the region, and the c.168+5G>C, c.473G>A, and c.782 G>A variants were the other most frequent mutations with allelic frequencies of 7.5, 5, and 5%, respectively. Three novel pathogenic variants including c.773T>G, c.878 T>C, and c. 1245del variants were observed among the investigated patients.</p><p><strong>Conclusions: </strong>The introduction of pathogenic variants in the <i>PAH</i> gene in each ethnic group provides valuable data regarding the understanding of the pathogenesis of the disease and can be helpful for prenatal diagnosis programs.</p>","PeriodicalId":14342,"journal":{"name":"International Journal of Preventive Medicine","volume":"15 ","pages":"22"},"PeriodicalIF":1.7,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11338363/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142017410","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Sustainable Development and the Battle against Non-Communicable Diseases (NCDs). 可持续发展与防治非传染性疾病(NCDs)。
IF 1.7
International Journal of Preventive Medicine Pub Date : 2024-07-17 eCollection Date: 2024-01-01 DOI: 10.4103/ijpvm.ijpvm_334_23
Ram Kumar Garg
{"title":"Sustainable Development and the Battle against Non-Communicable Diseases (NCDs).","authors":"Ram Kumar Garg","doi":"10.4103/ijpvm.ijpvm_334_23","DOIUrl":"10.4103/ijpvm.ijpvm_334_23","url":null,"abstract":"","PeriodicalId":14342,"journal":{"name":"International Journal of Preventive Medicine","volume":"15 ","pages":"21"},"PeriodicalIF":1.7,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11338362/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142017413","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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