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An Overview of Panniculitis – A Diagnostic Challenge for Dermatologists and Pathologists Panniculitis综述——皮肤病学家和病理学家面临的诊断挑战
IF 0.3 Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-08-01 DOI: 10.55453/rjmm.2023.126.4.12
D. Brǎnișteanu, M. Cojocaru, A. Nicolescu, Catalina I. Onu-Branisteanu, G. Stoleriu, Catalina Munteanu, A. Spînu, G. Brănişteanu, A. Dimitriu, M. Toader
": The term ""panniculitis"" refers to a heterogeneous group of conditions that involve inflammation of the subcutaneous cellular tissue. Although there is no universally accepted classification of panniculitis, to facilitate the diagnosis, they were divided into two large classes, based on the histopathological criteria: predominantly lobular and predominantly septal panniculitis. Depending on the presence or absence of vascular damage, each of the two classes mentioned above is divided in turn into panniculitis without vasculitis and panniculitis with vasculitis. The diagnosis of various types of panniculitis can sometimes be very difficult, due to the histopathological changes that occur in the various evolutionary stages of the lesions. Thus, the positive diagnosis relies on the corroboration of clinical data, histopathological examination, and ancillary laboratory tests. We provide an overview of the clinical and histopathological features of panniculitis, classified according to the histopathological criteria. "
:术语“脂膜炎”“是指一组涉及皮下细胞组织炎症的异质性疾病。虽然脂膜炎没有公认的分类,但为了便于诊断,根据组织病理学标准,它们被分为两大类:主要是小叶性脂膜炎和主要是间隔性脂膜炎血管损伤,上述两类中的每一类依次分为无血管炎的脂膜炎和有血管炎的血管炎。由于病变不同进化阶段发生的组织病理学变化,各种类型脂膜炎的诊断有时可能非常困难。因此,阳性诊断依赖于临床数据、组织病理学检查和辅助实验室测试的确证。我们提供了脂膜炎的临床和组织病理学特征的概述,根据组织病理学标准进行分类。“
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引用次数: 0
The Role of Chromogranin A Assay in the Diagnosis of Pheochromocytomas 嗜铬粒蛋白A检测在嗜铬细胞瘤诊断中的作用
IF 0.3 Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-08-01 DOI: 10.55453/rjmm.2023.126.4.14
A. Mirică, I. Badarau, R. Papacocea, C. Scheau, S. Păun, D. Păun
Background: Pheochromocytomas (Pheo) are rare neuroendocrine tumors with a suggestive clinical picture, characterized by hypersecretion of catecholamines and other neuroendocrine biomarkers. Methods: The purpose of the study was to analyze the diagnostic features of Pheo and investigate the role played by different neuroendocrine and hormonal markers in diagnosing Pheo.The retrospective study involved a group of 69 patients diagnosed and treated with Pheo, who had both urinary and plasma catecholamines and neuroendocrine markers measured pre- and postoperatively. Results: After comparing pre- and postoperative hormonal parameters and neuroendocrine biomarker changes, numerous statistically significant findings were found. The analysis of the relationships between chromogranin A (CgA) levels, plasma and urine metanephrines, and normetanephrine and Pheo tumor size was included in the study. Additionally, we evaluated Cg A's diagnostic efficacy in comparison to plasma metanephrines, normetanephrine, and neuron-specific enolase (NSE) for Pheo. Conclusions: We obtained statistically significant data on pre- and postoperative differences for plasma and urinary catecholamines, CgA and NSE. Pheo tumor size is interdependent with serum levels of Cg A, plasma and urinary metanephrines, and normetanephrine. The best diagnostic power for Pheo was plasma normetanephrine, followed by plasma metanephrines and CgA.
背景:嗜铬细胞瘤(Pheo)是一种罕见的神经内分泌肿瘤,临床表现为儿茶酚胺和其他神经内分泌生物标志物的高分泌。方法:分析Pheo的诊断特点,探讨不同神经内分泌及激素指标在Pheo诊断中的作用。这项回顾性研究纳入了69名确诊并接受Pheo治疗的患者,他们在术前和术后都测量了尿和血浆儿茶酚胺和神经内分泌标志物。结果:在比较术前和术后激素参数和神经内分泌生物标志物的变化后,发现了许多具有统计学意义的发现。分析嗜铬粒蛋白A (CgA)水平、血浆和尿中肾上腺素、去甲肾上腺素与Pheo肿瘤大小的关系。此外,我们比较了血浆肾上腺素、去甲肾上腺素和神经元特异性烯醇化酶(NSE)对Pheo的诊断效果。结论:我们获得了具有统计学意义的血浆和尿儿茶酚胺、CgA和NSE术前和术后差异数据。Pheo肿瘤大小与血清Cg、血浆和尿中肾上腺素及去甲肾上腺素水平相关。血浆去甲肾上腺素是诊断Pheo的最佳指标,其次是血浆去甲肾上腺素和CgA。
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引用次数: 0
Symptom Severity from Posttraumatic Stress is Not Correlated to C-reactive Protein Level or Altered by Ketone Salt Supplementation 创伤后应激症状的严重程度与C反应蛋白水平无关或补充酮酸盐改变
IF 0.3 Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-08-01 DOI: 10.55453/rjmm.2023.126.4.7
Langston Gilmore, Youssef Nagy A, Jennifer Waller, R. Nalloor, Max Wieder, A. Holland-Winkler
This study aimed to determine if: 1) C-reactive protein (CRP) level correlated with PTSD symptom severity as measured by PTSD Checklist-5 (PCL-5), and 2) ketone supplement reduced PTSD symptoms. Twenty participants with PTSD were randomly assigned to a ketone supplementation or placebo group and evaluated for 6-weeks for PTSD symptom severity and CRP levels. The Spearman Rank correlation between PCL-5 and CRP was positive, but not statistically significant. Mixed models on the ranks of the data were used to examine the difference in PCL-5 and CRP between ketone and control groups over time. Median PCL-5 at the pre-test was higher than at the post-test in the ketone group but not in the control. The reduction of PCL-5 medians between ketone and control groups at the post-test was not different. The median pre-test CRP was not different from than post-test in the ketone group or control group. This pilot study did not find a correlation between CRP levels and PTSD symptom severity but was limited by a lack of CRP data collection due to the loss of follow-up. PTSD symptom severity was not altered by 6 weeks of chronic ketone salt supplementation compared to the control group but should be examined in a larger sample size for further verification.
本研究旨在确定:1)c反应蛋白(CRP)水平是否与PTSD症状严重程度(PTSD Checklist-5, PCL-5)相关;2)酮类补充剂是否减轻PTSD症状。20名PTSD患者被随机分配到酮补充组或安慰剂组,并在6周内评估PTSD症状严重程度和CRP水平。PCL-5与CRP的Spearman Rank呈正相关,但无统计学意义。使用数据队列的混合模型来检查酮组和对照组之间PCL-5和CRP随时间的差异。酮组前测PCL-5中位数高于后测,对照组无此差异。酮组与对照组后测时PCL-5中位数降低无差异。酮组和对照组检测前CRP的中位数与检测后无显著差异。这项初步研究没有发现CRP水平与PTSD症状严重程度之间的相关性,但由于缺乏随访,缺乏CRP数据收集,因此受到限制。与对照组相比,6周的慢性酮盐补充没有改变PTSD症状的严重程度,但需要在更大的样本量中进行进一步的验证。
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引用次数: 0
Investigating the Relationship Between Social Responsibility and COVID-19 Morbidity in the Population Covered by Health Centers in Iran 调查社会责任与伊朗卫生中心覆盖人群中COVID-19发病率之间的关系
IF 0.3 Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-08-01 DOI: 10.55453/rjmm.2023.126.4.8
Mana Baharvand, R. Beiranvand, M. K. Moghadam, E. Ashrafi, B. Izadi, O. Safari, Morteza Mansurian
Introduction: Social responsibility and, is an indicator that is important in the epidemic of diseases with high prevalence and death rates. The current study aims at determining the relationship between social responsibility and COVID-19 in the population covered by health centers in Iran. Methods: 500 people participated in this descriptive-analytical study. The data was collected using a researcher-made social responsibility questionnaire in the context of the Covid-19 pandemic in three areas general, individual, and social responsibility. The quantitative content validity method was used to measure the validity of the questionnaire and Cronbach's alpha calculation method was used to measure its reliability. The data were analyzed using SPSS21 software. Findings: Among the participants, 4.32% of them had a history of covid-19, and the history of complications was more in men (51.9%) and the mean social responsibility score of women was higher (P<0.001). The average responsibility score was higher in people without a history of Covid-19 than in people with a history of Covid-19 (P=0.006). Conclusion: Individuals with higher social responsibility observed more health protocols and had lower rates of covid-19 infection among them. Therefore, in the design of educational interventions, planning should be done to increase people's sense of social responsibility.
前言:社会责任和社会责任是一项重要的指标,对流行率高、死亡率高的疾病的流行具有重要意义。目前的研究旨在确定伊朗卫生中心覆盖人口的社会责任与COVID-19之间的关系。方法:500人参与描述性分析研究。在新冠肺炎大流行背景下,通过研究人员编制的社会责任问卷收集了三个领域的数据,包括一般责任、个人责任和社会责任。采用定量内容效度法测量问卷的效度,采用Cronbach's alpha计算法测量问卷的信度。采用SPSS21软件对数据进行分析。结果:参与者中有新冠肺炎病史的占4.32%,其中男性并发症史较多(51.9%),女性社会责任平均得分较高(P<0.001)。无新冠肺炎史人群的平均责任得分高于有新冠肺炎史人群(P=0.006)。结论:社会责任感高的个体遵守更多的健康协议,其covid-19感染率较低。因此,在教育干预的设计中,要有计划地增加人们的社会责任感。
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引用次数: 0
Peculiarities of Military Values of Combatants with Signs of Post-traumatic Stress Reactions and Moral Traumas 有创伤后应激反应和道德创伤迹象的作战人员军事价值观的特点
IF 0.3 Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-08-01 DOI: 10.55453/rjmm.2023.126.4.6
Yanina Matsegora, O. Kolesnichenko, I. Prykhodko, K. Marushchenko, Y. Rumiantsev, I. Tovma, Roman Gakh, Dmytro Prikhodko
According to the results of the study, there were determined the peculiarities of military values of servicemen who participated in hostilities and had signs of PTSD and moral trauma. The study included 397 servicemen (aged 20 to 55 years) with combat experience. The study showed that PTSD and violation of moral normativity were closely related to unfavorable social conditions of performing combat tasks. Unlike PTSD, the moral normativity indicator was less tightly related to the immediate threat to life. The structure of values of the servicemen had no signs of PTSD as well as no violation of moral normativity consisted of factors that indicated the value of teamwork, responsibilities for decisions and actions made based on ideas related to loyalty to the oath and the Motherland, resistance, and professionalism. For the servicemen who participated in hostilities who had violations of moral normativity, it was more important to have the ability to act following their conscience, not to lose dignity, and to remain honest in the faces of their brothers than to have professionalism, loyalty to the oath and the Motherland.
根据研究结果,确定了参与敌对行动并有创伤后应激障碍和道德创伤迹象的军人的军事价值观特点。这项研究包括397名有作战经验的军人(年龄在20至55岁之间)。研究表明,创伤后应激障碍和违反道德规范与执行作战任务的不利社会条件密切相关。与创伤后应激障碍不同,道德规范性指标与生命的直接威胁关系不那么紧密。军人的价值观结构没有创伤后应激障碍的迹象,也没有违反道德规范,这些因素表明了团队合作的价值、对基于忠于誓言和祖国、抵抗和专业精神的想法做出的决定和行动的责任。对于那些参与敌对行动、违反道德规范的军人来说,更重要的是有能力按照自己的良心行事,不失去尊严,在兄弟面前保持诚实,而不是有专业精神、忠于誓言和祖国。
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引用次数: 0
Predictive Factors for Death among Patients with Clostridium difficile Infection – A Single Center Experience Study 艰难梭菌感染患者死亡的预测因素——单中心经验研究
IF 0.3 Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-08-01 DOI: 10.55453/rjmm.2023.126.4.21
V. Ionescu, C. Diaconu, R. Costache, F. Gheorghe, A. Andronesi, G. Gheorghe
"Clostridium difficile infection (CDI) is one of the most common healthcare-associated infections and an important cause of morbidity and mortality worldwide. The objective of the study was to identify the predictive factors for unfavorable evolution and deaths among patients with CDI. Materials and methods: We conducted a retrospective, observational, non-randomized study on 202 patients diagnosed with CDI in the Clinical Emergency Hospital of Bucharest, Romania, for a period of two years. For the statistical analysis, the R program was used, with p-values <0.05 being considered statistically significant. Results: The average age of the patients included in the study was 70.8 years, the average duration of hospitalization was 18.4 days, and the mortality rate was 25.7%. During the follow-up period, only 5% of the patients presented a recurrence of CDI. Multiple binomial logistic regression defined as independent risk factors for death among CDI patients: advanced age, comorbidities such as chronic obstructive pulmonary disease (p=0.008), chronic kidney disease (p=0.007), or COVID-19 (p=0.036), leukocytes ≥ 16,755/mm3 (p=0.009) and serum albumin < 2.83 g/dL (p<0.001). Conclusions: The identification of certain negative prognostic factors in patients with CDI requires a careful follow-up of the patients, for an early identification of complications and adaptation of therapeutic management."
艰难梭菌感染(CDI)是最常见的卫生保健相关感染之一,也是世界范围内发病率和死亡率的重要原因。本研究的目的是确定CDI患者不良进展和死亡的预测因素。材料和方法:我们对罗马尼亚布加勒斯特临床急诊医院诊断为CDI的202例患者进行了为期两年的回顾性、观察性、非随机研究。统计分析采用R程序,以p值<0.05为有统计学意义。结果:纳入研究的患者平均年龄为70.8岁,平均住院时间为18.4 d,死亡率为25.7%。随访期间,仅有5%的患者出现CDI复发。多二项logistic回归定义为CDI患者死亡的独立危险因素:高龄、合并症如慢性阻塞性肺疾病(p=0.008)、慢性肾脏疾病(p=0.007)或COVID-19 (p=0.036)、白细胞≥16,755/mm3 (p=0.009)和血清白蛋白< 2.83 g/dL (p<0.001)。结论:确定CDI患者的某些负面预后因素需要对患者进行仔细的随访,以便早期发现并发症并适应治疗管理。
{"title":"Predictive Factors for Death among Patients with Clostridium difficile Infection – A Single Center Experience Study","authors":"V. Ionescu, C. Diaconu, R. Costache, F. Gheorghe, A. Andronesi, G. Gheorghe","doi":"10.55453/rjmm.2023.126.4.21","DOIUrl":"https://doi.org/10.55453/rjmm.2023.126.4.21","url":null,"abstract":"\"Clostridium difficile infection (CDI) is one of the most common healthcare-associated infections and an important cause of morbidity and mortality worldwide. The objective of the study was to identify the predictive factors for unfavorable evolution and deaths among patients with CDI. Materials and methods: We conducted a retrospective, observational, non-randomized study on 202 patients diagnosed with CDI in the Clinical Emergency Hospital of Bucharest, Romania, for a period of two years. For the statistical analysis, the R program was used, with p-values <0.05 being considered statistically significant. Results: The average age of the patients included in the study was 70.8 years, the average duration of hospitalization was 18.4 days, and the mortality rate was 25.7%. During the follow-up period, only 5% of the patients presented a recurrence of CDI. Multiple binomial logistic regression defined as independent risk factors for death among CDI patients: advanced age, comorbidities such as chronic obstructive pulmonary disease (p=0.008), chronic kidney disease (p=0.007), or COVID-19 (p=0.036), leukocytes ≥ 16,755/mm3 (p=0.009) and serum albumin < 2.83 g/dL (p<0.001). Conclusions: The identification of certain negative prognostic factors in patients with CDI requires a careful follow-up of the patients, for an early identification of complications and adaptation of therapeutic management.\"","PeriodicalId":21298,"journal":{"name":"Romanian Journal of Military Medicine","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48690453","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pitfalls of Ovarian Dysgerminoma 卵巢无性细胞瘤的并发症
IF 0.3 Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-08-01 DOI: 10.55453/rjmm.2023.126.4.15
I. Negoiță, A. Cucu, Florin Naftanaila-Mali, Elena D. Soloman-Năftănăilă-Mali, C. Nistor
This is a narrative review based on published articles, using the following criteria: key words “ovarian dysgerminoma” and “MRI (Magnetic Resonance Imaging)”; PubMed access; full-length English articles since inception to May 2023; original studies and case reports/series. Exclusion criteria were ovarian tumors other than dysgerminomas, non-English papers, nonhuman studies, and reviews. Dysgerminomas are the most common ovarian malignant germ cell tumors, accounting for 1-2% of all primary ovarian neoplasms.
这是一篇基于已发表文章的叙述性综述,使用以下标准:关键词“卵巢无性细胞瘤”和“MRI(磁共振成像)”;PubMed访问;自创刊至2023年5月的长篇英文文章;原始研究和病例报告/系列。排除标准为除无性细胞瘤以外的卵巢肿瘤、非英文论文、非人类研究和综述。生殖细胞瘤是最常见的卵巢恶性生殖细胞肿瘤,占所有原发性卵巢肿瘤的1-2%。
{"title":"Pitfalls of Ovarian Dysgerminoma","authors":"I. Negoiță, A. Cucu, Florin Naftanaila-Mali, Elena D. Soloman-Năftănăilă-Mali, C. Nistor","doi":"10.55453/rjmm.2023.126.4.15","DOIUrl":"https://doi.org/10.55453/rjmm.2023.126.4.15","url":null,"abstract":"This is a narrative review based on published articles, using the following criteria: key words “ovarian dysgerminoma” and “MRI (Magnetic Resonance Imaging)”; PubMed access; full-length English articles since inception to May 2023; original studies and case reports/series. Exclusion criteria were ovarian tumors other than dysgerminomas, non-English papers, nonhuman studies, and reviews. Dysgerminomas are the most common ovarian malignant germ cell tumors, accounting for 1-2% of all primary ovarian neoplasms.","PeriodicalId":21298,"journal":{"name":"Romanian Journal of Military Medicine","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45228079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Multipurpose Hall for CBRNe Incidents CBRNe事件多功能厅
IF 0.3 Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-08-01 DOI: 10.55453/rjmm.2023.126.4.19
Sajad Shir
"A multipurpose hall designed for CBRN (Chemical, Biological, Radiological, and Nuclear) purposes plays a vital role in enhancing preparedness, response, and recovery capabilities in the face of CBRN incidents. A multipurpose hall for CBRN purposes provides a dedicated and specialized environment to support CBRN preparedness, response, and recovery efforts. It enhances coordination, facilitates training and exercises, ensures proper equipment storage, and fosters collaboration, ultimately strengthening the ability to protect personnel, mitigate risks, and minimize the impact of CBRN incidents. This study is qualitative research based on the content analysis method. To design and build multipurpose halls for CBRN events, this study can be used as a checklist. The purpose of this study is to collect important factors and sub-factors in the design, construction, and equipping of buildings and multi-purpose CBRN structures."
“为CBRN(化学、生物、辐射和核)设计的多功能大厅目的在加强CBRN事件的准备、响应和恢复能力方面发挥着至关重要的作用。用于世邦魏理仕目的的多功能大厅提供了一个专门的环境,以支持世邦魏理仕的准备、响应和恢复工作。它加强了协调,促进了培训和演习,确保了适当的设备存储,并促进了合作,最终增强了保护人员、降低风险和最大限度地减少世邦魏理仕事件影响的能力。本研究是基于内容分析法的定性研究。为了设计和建造世邦魏理仕活动的多功能大厅,本研究可作为检查表。本研究的目的是收集建筑和多用途CBRN结构的设计、施工和装备中的重要因素和子因素。“
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引用次数: 0
Relationship between Glycemic Control and Triglyceride-Glucose Index in Patients with Type 2 Diabetes Mellitus 2型糖尿病患者血糖控制与甘油三酯-葡萄糖指数的关系
IF 0.3 Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-08-01 DOI: 10.55453/rjmm.2023.126.4.2
S. Ö. Öztürk, Zehra Kocaman
The triglyceride-glucose index is a newly discovered parameter that indicates insulin resistance. This study aims to investigate the relationship between the triglyceride-glucose index and triglyceride/high-density lipoprotein ratio with glycemic control in patients with type 2 diabetes mellitus. This study was performed retrospectively in 296 patients with type 2 diabetes mellitus. Patients were divided into two equal groups according to their HbA1c levels as having good glycemic control (HbA1c 7 and below) and poor glycemic control (HbA1c above 7). Age, gender, body mass index, fasting blood glucose, HbA1c, total cholesterol, serum triglyceride level, serum HDL level, serum LDL level, riglyceride-glucose index, and triglyceride/HDL ratio were compared between the groups. Fasting blood glucose, HbA1c, triglyceride, HDL, triglyceride-glucose index, and triglyceride/HDL ratio wassignificantly different between patient groups with good and poor blood glucose regulation (p<0.05). Patients with poor glycemic control had lower fasting blood glucose, HbA1c, triglycerides, triglyceride-glucose index, and HDL values compared to patients with high triglyceride/HDL ratio and good glycemic control. There was no difference between the groups in terms of other variables (p>0.05). Triglyceride-glucose index and triglyceride/HDL ratio may be indicators of poor glycemic control in diabetic individuals. These indices are cheaper, universal, and easy-to-measure parameters compared to HbA1c and can be used to predict glycemic regulation.
甘油三酯-葡萄糖指数是新发现的胰岛素抵抗指标。本研究旨在探讨2型糖尿病患者甘油三酯-葡萄糖指数、甘油三酯/高密度脂蛋白比值与血糖控制的关系。本研究对296例2型糖尿病患者进行回顾性分析。将患者根据HbA1c水平分为血糖控制良好(HbA1c 7及以下)和血糖控制不良(HbA1c 7以上)两组,比较两组患者的年龄、性别、体重指数、空腹血糖、HbA1c、总胆固醇、血清甘油三酯水平、血清HDL水平、血清LDL水平、甘油三酯-葡萄糖指数、甘油三酯/HDL比值。空腹血糖、HbA1c、甘油三酯、HDL、甘油三酯-葡萄糖指数、甘油三酯/HDL比值在血糖调节良好组和血糖调节不良组间差异有统计学意义(p0.05)。甘油三酯-葡萄糖指数和甘油三酯/高密度脂蛋白比值可能是糖尿病患者血糖控制不良的指标。与HbA1c相比,这些指标更便宜、通用、易于测量,可用于预测血糖调节。
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引用次数: 0
A Family-based Association Test of the VDR Gene in Proximal Spinal Muscular Atrophy 近端脊髓性肌萎缩症VDR基因的家族关联检测
IF 0.3 Q4 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-08-01 DOI: 10.55453/rjmm.2023.126.4.9
Oana A Alexiu-Toma, M. Toma, M. Stavarachi, Alexandra V. Danciu, D. Cimponeriu, C. Constantin, R. Nica, N. Butoianu, S. Nica, Ileana Stoica
Different factors may be involved in the clinical heterogeneity of spinal muscular atrophy disease. The vitamin D receptor (VDR) might be a candidate gene for this disease. Our study aimed to assess the preferential transmission of VDR polymorphisms from parents to SMA children. We genotyped 261 subjects (87 SMA nuclear families) for VDR FokI, BsmI, ApaI, and TaqI polymorphisms. The transmission of the genetic marker was estimated with Plink and FBAT software. It detected a preferential transmission of the rs731236 and rs7975232 variants to SMA1 patients and of rs1544410 variants to SMA2 patients. The variants of rs2228570 were preferentially transmitted to parents of all SMA patients. Haplotype analysis identified that haplotypes C-C-G-A and T-A-A-G seem to be involved in the booth type of SMA whereas the impact of T-A-A-A seems to be limited only to SMA2. Strong linkage disequilibrium (LD) between rs7975232 and rs1544410 was detected in samples from parents. Even though we investigated a small number of nuclear families the results suggest a potential link between VDR polymorphisms and SMA disease.
脊髓性肌萎缩症的临床异质性可能涉及不同的因素。维生素D受体(VDR)可能是该疾病的候选基因。我们的研究旨在评估VDR多态性从父母向SMA儿童的优先传播。我们对261名受试者(87个SMA核心家族)的VDR-FokI、BsmI、ApaI和TaqI多态性进行了基因分型。利用Plink和FBAT软件对遗传标记的传递进行了估算。它检测到rs731236和rs7975232变体优先传播给SMA1患者,rs1544410变体优先传播到SMA2患者。rs2228570的变体优先传播给所有SMA患者的父母。单倍型分析表明,单倍型C-C-G-A和T-A-A-G似乎与SMA的展位型有关,而T-A-A-A的影响似乎仅限于SMA2。rs7975232和rs1544410之间存在强连锁不平衡(LD)。尽管我们调查了少数核心家族,但结果表明VDR多态性与SMA疾病之间存在潜在联系。
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引用次数: 0
期刊
Romanian Journal of Military Medicine
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