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Spatial Distribution of Smear-Positive Pulmonary Tuberculosis Incidence Rates in Iran: A Registry-Based Study (2018-2022). 伊朗涂片阳性肺结核发病率的空间分布:基于登记簿的研究(2018-2022 年)》。
IF 1.7 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-08-12 eCollection Date: 2024-01-01 DOI: 10.4103/ijpvm.ijpvm_346_23
Maryam Rastegar, Eisa Nazar, Mohammad Taghi Shakeri, Vahid Fakoor, Mahshid Nasehi, Saeed Sharafi

Background: Smear-positive pulmonary tuberculosis (SPPTB) is a significant public health concern in Iran. This registry-based study aimed to investigate the incidence rates of SPPTB in Iran from 2018 to 2022.

Methods: The study analyzed SPPTB cases using the Spatial Lag Model to investigate the spatial distribution of SPPTB incidence rates, income inequality, and delayed diagnosis across the provinces of Iran and mapped the results using GIS maps.

Results: The study found that SPPTB is prevalent among older individuals and males. The analysis identified significant spatial variation in the distribution of SPPTB incidence rates, income inequality, and delayed diagnosis across the provinces. The highest incidence rate of SPPTB was found in Sistan and Baluchestan Province and Golestan provinces. The study found a positive association between income inequalities, measured by the Gini index, and SPPTB incidence rates, indicating that provinces with higher income inequality may have higher incidence rates of SPPTB. The negative correlation with delayed diagnosis implies that predominantly, SPPTB cases are identified in the early months.

Conclusions: The study highlights the need to address socioeconomic disparities in health outcomes and implement targeted interventions in areas with higher income inequality to reduce the burden of SPPTB in Iran. Despite decreased SPPTB incidence rates in Iran over the past decade, some regions, such as Sistan and Baluchestan, still have high incidence rates. The Iranian government has implemented policies and programs to reduce income inequality and delayed diagnosis within the country, which can contribute to reducing the burden of SPPTB.

背景:涂片阳性肺结核(SPTB)是伊朗的一个重大公共卫生问题。这项基于登记的研究旨在调查 2018 年至 2022 年伊朗 SPPTB 的发病率:研究利用空间滞后模型分析了 SPPTB 病例,调查了 SPPTB 发病率、收入不平等和延迟诊断在伊朗各省的空间分布情况,并利用 GIS 地图绘制了结果图:研究发现,SPPTB 在老年人和男性中流行。分析发现,SPPTB 发病率、收入不平等和延迟诊断在各省的分布存在明显的空间差异。锡斯坦和俾路支斯坦省以及戈勒斯坦省的 SPPTB 发病率最高。研究发现,以基尼指数衡量的收入不平等与 SPPTB 发病率之间存在正相关,这表明收入不平等程度较高的省份可能会有较高的 SPPTB 发病率。与延迟诊断之间的负相关意味着 SPPTB 病例主要是在最初几个月发现的:这项研究强调,有必要解决健康结果中的社会经济差异问题,并在收入不平等程度较高的地区实施有针对性的干预措施,以减轻伊朗的 SPPTB 负担。尽管过去十年间伊朗的猪肺结核发病率有所下降,但锡斯坦和俾路支斯坦等一些地区的发病率仍然很高。伊朗政府已经实施了相关政策和计划,以减少国内的收入不平等和延迟诊断现象,这将有助于减轻 SPPTB 的负担。
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引用次数: 0
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 Q2 MEDICINE, GENERAL & INTERNAL 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

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 (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.

糖尿病是一种慢性内分泌疾病,会对包括神经系统在内的多个身体系统产生负面影响。糖尿病可导致或加重各种神经系统疾病,糖尿病诱发的神经退行性变可能涉及多种机制,如线粒体功能障碍、氧化应激激活、神经元炎症和细胞死亡。近年来,治疗糖尿病诱发的神经退行性变主要依靠几种药物,其中包括钠-葡萄糖共转运体-2(SGLT2)抑制剂,也称为格列酮类。除了在降低血糖方面发挥强大作用外,格列酮类药物还具有很强的抗神经炎症特性,可通过抑制糖尿病患者神经系统中的氧化应激和细胞死亡发挥作用。本综述介绍了糖尿病诱导的神经退行性变所涉及的分子通路,并评估了格列酮嗪类药物对糖尿病诱导的神经退行性变的神经保护作用的临床和实验室研究,讨论了线粒体功能障碍、氧化应激、神经炎症和细胞死亡等不同分子通路的作用。我们在多个数据库(包括 Web of Science、Scopus、PubMed、Google Scholar 以及 Springer、Wiley 和 Elsevier 等多家出版商)中搜索了有关格列酮嗪对糖尿病引发的神经退行性事件的神经保护作用的关键词。此外,还应用了抗神经炎症、抗氧化应激和抗细胞死亡等关键词,以评估格列酮嗪对糖尿病患者神经元的潜在保护机制。检索期间考虑了 2000 年 1 月至 2023 年 7 月期间发表的经同行评审的有效研究。目前的文献表明,格列酮嗪类药物可对糖尿病诱导的神经退行性事件和神经元功能障碍发挥神经保护作用,这些作用是通过激活线粒体功能和防止受糖尿病影响的神经元的细胞死亡过程、氧化应激和炎症介导的。格列酮嗪类药物可对糖尿病引发的神经退行性病变产生神经保护作用,这些作用是通过抑制氧化应激、炎症和细胞死亡来实现的。
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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 Q2 MEDICINE, GENERAL & INTERNAL 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

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.

妊娠期妇女阻塞性睡眠呼吸暂停综合征(OSA)的发病率会增加,并对孕产妇和胎儿的预后产生负面影响。最新的系统综述和荟萃分析旨在评估柏林问卷、STOP-Bang问卷和爱普沃斯嗜睡量表(ESS)问卷在检测孕妇OSA方面的有效性。截至 2022 年 3 月,对 PubMed、Embase 和 Web of Science 进行了系统检索。在纳入符合条件的研究后,两名独立审稿人提取了人口统计学和临床数据。采用双变量随机效应模型来估算汇总的准确性指标,包括敏感性和特异性、阳性预测值(PPV)和阴性预测值(NPV)、诊断几率比(DOR)和接收者操作特征曲线(ROC)。我们共纳入了 8 项研究,包括 710 名疑似 OSA 孕妇。柏林、STOP-Bang 和 ESS 问卷的性能值如下:汇总灵敏度分别为 61%(95% 置信区间 (CI):40%-80%)、59%(95% CI:49%-69%)和 29%(95% CI:10%-60%);汇总特异性分别为 61%(95% CI:42%-78%)、80%(95% CI:55%-93%)和 80%(95% CI:50%-94%);汇总 PPV 分别为 60%(95% CI:0.49-0.72)、73%(95% CI:61%-85%)和 59%(95% CI:31%-87%);集合 NPV 分别为 60%(95% CI:0.49-0.71)、65%(95% CI:54%-76%)和 53%(95% CI:41%-64%);集合 DOR 分别为 3(95% CI:1-5)、6(95% CI:2-19)和 2(95% CI:1-3)。由此看来,柏林、STOP-Bang 和 ESS 问卷在妊娠期的敏感性和特异性方面均处于较差至中等水平,其中 ESS 表现出最差的特征。需要进一步开展研究,以评估其他筛查方法在妊娠期筛查 OSA 的效果。
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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 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-08-06 eCollection Date: 2024-01-01 DOI: 10.4103/ijpvm.ijpvm_42_23
D C Vidya, A Kalaivani, P Rekha
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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 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-08-06 eCollection Date: 2024-01-01 DOI: 10.4103/ijpvm.ijpvm_27_23
Kousar Zardosht, Seyedeh M Namayandeh
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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 Q2 MEDICINE, GENERAL & INTERNAL 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

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.

COVID-19 大流行严重影响了公众健康和全球经济。人们还发现它对妊娠、新生儿结局和母婴传播有潜在影响。本系统综述旨在概述与妊娠相关的孕产妇和围产期结局。自2019年12月1日至2022年12月23日,根据PRISMA指南,通过搜索PubMed、MEDLINE、Embase和Web of Science数据库进行了系统性综述研究。结果显示,感染SARS-CoV-2的母亲剖宫产率有所增加。但研究发现,感染 SARS-CoV-2 的孕妇的分娩方式并不会增加或减少新生儿的感染风险。在 COVID-19 大流行期间,孕产妇和婴儿死亡率以及死胎和宫外孕破裂率都有所上升。研究表明,SARS-CoV-2 有可能在怀孕期间传播,尽管垂直传播很少见。然而,还需要更多的数据来调查这种不利影响,特别是关于感染 SARS-CoV-2 的母亲疾病复发的报告。
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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 Q2 MEDICINE, GENERAL & INTERNAL 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

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.

一直以来,人们都认为各国不应在医疗服务质量问题上无所作为。因此,需要就如何提高医疗服务质量制定明确的政策。本范围界定综述旨在以图表的形式确定和绘制发展中国家卫生系统中有关国家医疗服务质量政策和战略(NQPS)的现有证据。我们遵循乔安娜-布里格斯研究所(Joanna Briggs Institute)发布的综述方法指南。此外,我们还采用了叙事性专题综合法,并利用世界卫生组织的 NQPS 方法和 Kingdon 的多流框架进行了系统分析。我们纳入了 33 篇符合纳入标准的记录,这些记录发表于 2010 年至 2019 年之间。同时,政府文件是最常见的记录(61%)。津巴布韦、印度尼西亚和苏丹是出现频率最高的地点(各占 8%)。在所有确定的国家中,卫生部负责制定国家质量标准的最终责任。此外,82%的国家处于制定国家质 量保证计划的发展阶段,在印度尼西亚、苏丹和坦桑尼亚观察到了三股力量的融合。看来,非洲国家了解本国的质量问题,制定国家质量标准的必要性在这些国家更受欢迎。我们建议,今后的研究应侧重于在政策制定周期的议程制定阶段,从优先次序的角度对 NQPS 进行审查,并根据与 NQPS 方法相关的八个相互依存的核心要素,对所有已确定的 NQPS 进行文件分析。
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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 Q2 MEDICINE, GENERAL & INTERNAL 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

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.

非酒精性脂肪肝(NAFLD)是指肝脏脂肪变性(脂肪在肝脏中的堆积超过肝脏重量的 5%),但没有导致肝脏脂肪堆积的继发性原因,如过度饮酒。非酒精性脂肪肝分为两种类型:非酒精性脂肪肝(NAFL)和非酒精性脂肪性肝炎(NASH)。因此,在本临床指南中,我们试图确定该疾病的一般和重要政策,并修改其治疗方法。我们对伊斯法罕省的非酒精性脂肪肝管理指南进行了调整。本指南是通过临床评估、证据审查、现有临床指南以及与伊朗胃肠病学和肝脏病学协会伊斯法罕分会成员协商后制定的。活组织检查被推荐为诊断非酒精性脂肪肝患者脂肪性肝炎和纤维化的最可靠方法(金标准)。与其他血清学检测相比,非酒精性脂肪肝纤维化评分(NFS)和纤维化-4(FIB-4)被推荐为对非酒精性脂肪肝患者晚期纤维化具有最高预测价值的检测方法。在用于评估肝纤维化的无创方法中,瞬态弹性成像(TE)优于其他方法。
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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 Q2 MEDICINE, GENERAL & INTERNAL 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

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.

为了适应不断变化的条件并满足社会需求,卫生系统需要在其结构和绩效方面进行持续的变革和改革,并随之对其指标进行评估。因此,本研究旨在调查医疗系统转型计划(HTP)对中东地区某国(伊朗)医院功能指标和效率的影响。根据 PRISMA(Preferred Reporting Items for Systematic Reviews and Meta-Analyses,系统性综述和元分析的首选报告项目)指南,使用 Medline、EMBASE、Scopus、Pubmed、SID、Magiran 和 Medlib 等在线数据库对 2013 年至 2022 年的文献进行了系统性综述,综述中使用了医学主题词("卫生系统转型计划 [Mesh] 或'卫生改革 [Mesh] 或卫生转型计划的实施 [Mesh] ''和('绩效指标'[Mesh])''和('伊朗'[Mesh])。数据分析使用 STATA 第 11 版。本研究共确定了 20 份报告(横断面、队列和病例对照)。结果显示,在实施 HTP 后,病床占用率和病床周转率指数上升,病床周转距离指数下降。另一方面,医院实施该计划后,患者的平均住院时间延长了。与计划实施前相比,HTP 的实施改善了医院的大部分绩效指标,并普遍提高了医院的生产率。然而,努力加强薄弱的绩效指标,确定有效的指标,同时采取正确的政策来提高医院的整体效率,可以有效改善 HTP。
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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 Q2 MEDICINE, GENERAL & INTERNAL 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

Background: There are more than 1100 different pathogenic variants in the phenylalanine hydroxylase (PAH) 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 PAH gene among patients with PKU in Mazandaran and Golestan provinces in the north of Iran.

Methods: 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.

Results: 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.

Conclusions: The introduction of pathogenic variants in the PAH 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.

背景:导致苯丙酮尿症(PKU)的苯丙氨酸羟化酶(PAH)基因中存在 1100 多种不同的致病变异体,这些变异体在不同种族群体中的分布也不尽相同。本研究旨在确定伊朗北部马赞达兰省和戈勒斯坦省的 PKU 患者中 PAH 基因全部 13 个外显子中致病变异的频率:40名来自马赞达兰省和戈勒斯坦省的无亲属关系的PKU患者参加了研究。使用Qiagen DNA提取试剂盒从白细胞中提取基因组DNA,并采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)和桑格测序法检测变异。对于新变异,则使用 InterVar 在线工具(PMID:28132688)对变异进行分类:结果:在 40 名接受调查的患者中观察到 21 个不同的致病变异。c.106611G>A变异在该地区的频率最高(27.5%),c.168+5G>C、c.473G>A和c.782 G>A变异是其他最常见的变异,等位基因频率分别为7.5%、5%和5%。在调查的患者中观察到三个新的致病变异,包括c.773T>G、c.878 T>C和c.1245del变异:结论:PAH 基因致病变异在各民族中的出现为了解该病的发病机制提供了宝贵的数据,有助于产前诊断项目的开展。
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International Journal of Preventive Medicine
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