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Comparison of central precocious puberty frequency before and during COVID-19: a systematic review and meta-analysis. COVID-19之前和期间中枢性性早熟频率的比较:系统回顾和荟萃分析。
IF 2.8 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-17 DOI: 10.1186/s12902-024-01749-4
Jianwei Zhang, Jinliang Xu, Xiaoli Tang, Ruoya Wu

Objective: The current systematic review and meta-analysis assessed the prevalence of central precocious puberty (CPP) throughout the novel coronavirus disease 2019 (COVID-19) pandemic.

Design: A systematic review and meta-analysis were carried out following the principles outlined by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA, 2020).

Data sources: PubMed, Embase, Web of Science, and WANFANG databases were searched from January 1, 2019, to March 30, 2023.

Eligibility criteria for selecting studies: (1) children and adolescents ≤ 15 years; (2) studies with the outcome of frequency of central precocious puberty, measured prior to and throughout the COVID-19 pandemic; (3) a novel CPP diagnosis was created depending on all of the following criteria: girls with a chronological age < 8 years and boys with a chronological age < 9 years at the onset of symptoms, basal luteinizing hormone (LH) levels > 0.3 UI/L, and/or GnRH-stimulated peak LH levels > 5 IU/L.

Data extraction and synthesis: The process of extracting data and evaluating the likelihood of bias was carried out by two independent reviewers. The data were pooled employing the generic inverse-variance method and presented as mean differences (MDs) with 95% CIs. The evaluation of heterogeneity was conducted employing the Cochran Q statistic, and the degree of heterogeneity was measured employing the I2 statistic.

Results: This meta-analysis included 17 studies. In contrast to the same period prior to the COVID-19 pandemic, the occurrence of CPP elevated (OR = 2.57; 95% CI, 1.85-3.56). Moreover, body mass index standard deviation score (BMI SDS) differences between CPP patients prior to COVID-19 and throughout the pandemic follow-up was 0.12 (95% CI - 0.01 to 0.25 P = 0.06).

Conclusion: Overall, CPP frequency significantly elevated throughout the COVID-19 pandemic. Given the restricted number of cohort investigations in this meta-analysis, additional research may be conducted on larger groups of children in order to establish a correlation between the observed rise in precocious puberty and specific pathogenic factors.

摘要本系统综述和荟萃分析评估了2019年新型冠状病毒病(COVID-19)大流行期间中枢性性早熟(CPP)的发病率:按照《系统综述和荟萃分析首选报告项目》(Preferred Reporting Items for Systematic Reviews and Meta-Analyses,PRISMA,2020)所概述的原则进行了系统综述和荟萃分析:数据来源:检索了 PubMed、Embase、Web of Science 和 WANFANG 数据库,检索时间为 2019 年 1 月 1 日至 2023 年 3 月 30 日。选择研究的资格标准:(1)年龄≤15岁的儿童和青少年;(2)在COVID-19大流行之前和整个期间以中枢性性早熟频率为结果的研究;(3)根据以下所有标准创建新的CPP诊断:女孩的时龄为0.3 UI/L,和/或GnRH刺激的LH峰值水平> 5 IU/L.数据提取和综合:数据提取和偏倚可能性评估过程由两名独立审稿人完成。采用通用逆方差法对数据进行汇总,并以平均差(MDs)和 95% CIs 的形式呈现。异质性评估采用 Cochran Q 统计学,异质性程度采用 I2 统计学:这项荟萃分析包括 17 项研究。与 COVID-19 大流行之前的同期相比,CPP 的发生率有所上升(OR = 2.57;95% CI,1.85-3.56)。此外,在 COVID-19 之前和整个大流行随访期间,CPP 患者的体重指数标准偏差分值(BMI SDS)差异为 0.12(95% CI - 0.01 至 0.25 P = 0.06):总体而言,在 COVID-19 大流行期间,CPP 的发病率明显升高。鉴于本次荟萃分析中的队列调查数量有限,可能需要对更大的儿童群体进行更多的研究,以确定所观察到的性早熟上升与特定致病因素之间的相关性。
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引用次数: 0
The association between triglyceride glucose index and gout: a cross-sectional analysis based on NHANES 2007-2018. 甘油三酯血糖指数与痛风之间的关系:基于 2007-2018 年国家健康调查的横断面分析。
IF 2.8 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-16 DOI: 10.1186/s12902-024-01747-6
Yahui Dai, Yushan Zhang, Bo Wang, Lei Cao, Zhiyuan Wang

Background: The triglyceride glucose (TyG) index, defined as Ln [fasting triglyceride (mg/dL) × fasting glucose (mg/dL)/2], provides insights into overall metabolic status. However, the association between the TyG index and gout has not been investigated. Therefore, this study explored the correlation between the TyG index and gout.

Methods: Using data from the National Health and Nutrition Examination Survey, which was conducted from 2007 to 2018, this study investigated the relationship between the TyG index and gout. Demographic data and potential risk factors were analyzed and compared using t tests for continuous data and chi-square tests for categorical data. Logistic regression and subgroup analysis were performed to examine the association between the TyG index and gout.

Results: A total of 14,924 participants were enrolled, among whom 726 (4.86%) were diagnosed with gout. Without controlling for any covariates, a significant positive correlation was observed between an elevated TyG index and increased risk of gout, with an odds ratio (OR) of 2.07 and a 95% confidence interval (CI) ranging from 1.76 to 2.43. After full adjustment, this association remained statistically significant, with an adjusted OR of 1.43 and a 95% CI from 1.14 to 1.80. Subgroup analyses revealed significant interactions, particularly for females (OR = 2.55; 95% CI: 2.00-3.26), individuals with no military service history (OR = 2.15; 95% CI: 1.66-2.43), and those without diabetes (OR = 2.00; 95% CI: 1.64-2.43).

Conclusion: A positive correlation was observed between the TyG index and gout. Consequently, further large-scale prospective studies are warranted for a comprehensive analysis of the role of the TyG index in gout.

背景:甘油三酯血糖(TyG)指数的定义为 Ln [空腹甘油三酯(毫克/分升)×空腹血糖(毫克/分升)/2],该指数有助于了解整体代谢状况。然而,TyG 指数与痛风之间的关系尚未得到研究。因此,本研究探讨了 TyG 指数与痛风之间的相关性:本研究利用 2007 年至 2018 年进行的美国国家健康与营养调查的数据,调查了 TyG 指数与痛风之间的关系。对连续数据采用t检验,对分类数据采用卡方检验,对人口统计学数据和潜在风险因素进行了分析和比较。为研究TyG指数与痛风之间的关系,还进行了逻辑回归和亚组分析:共有 14,924 人参加了研究,其中 726 人(4.86%)被诊断为痛风。在未控制任何协变量的情况下,观察到TyG指数升高与痛风风险增加之间存在显著的正相关性,赔率(OR)为2.07,95%置信区间(CI)为1.76至2.43。经过全面调整后,这种关联仍具有显著的统计学意义,调整后的 OR 为 1.43,95% 置信区间为 1.14 至 1.80。亚组分析显示了显著的交互作用,尤其是女性(OR = 2.55;95% CI:2.00-3.26)、无服兵役史者(OR = 2.15;95% CI:1.66-2.43)和无糖尿病者(OR = 2.00;95% CI:1.64-2.43):结论:TyG指数与痛风之间存在正相关。因此,有必要进一步开展大规模前瞻性研究,以全面分析 TyG 指数在痛风中的作用。
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引用次数: 0
Association between visceral adiposity index, lipid accumulation product and type 2 diabetes mellitus in US adults with hypertension: a cross-sectional analysis of NHANES from 2005 to 2018. 美国成人高血压患者的内脏脂肪指数、脂质堆积产物与 2 型糖尿病之间的关系:2005 年至 2018 年 NHANES 的横断面分析。
IF 2.8 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-15 DOI: 10.1186/s12902-024-01750-x
Chen Lv, Rui Huo

Background: The presence of hypertension significantly increases the risk of diabetes, particularly type 2 diabetes. Recently, Visceral Adiposity Index (VAI) has been introduced as a straightforward and robust alternative indicator for early detection of metabolic syndrome, cardiovascular disease, and T2DM. Visceral adiposity, more dangerous than subcutaneous fat, is associated with metabolic syndrome and cardiovascular diseases. The VAI and Lipid Accumulation Product (LAP) are indices that quantify visceral fat and lipid overaccumulation, respectively. This study aims to explore the association between VAI, LAP, and type 2 diabetes mellitus (T2DM) in US adults with hypertension using NHANES data from 2005 to 2018.

Methods: We analyzed data from 5,620 participants with hypertension in The National Health and Nutrition Examination Survey (NHANES). VAI and LAP were calculated using established formulas. The VAI is calculated based on a combination of waist circumference, body mass index (BMI), triglycerides, and high-density lipoprotein (HDL) cholesterol levels. Logistic regression models were applied to evaluate the association between these indices and T2DM, adjusting for potential confounders. Subgroup analyses by age and gender were also conducted to assess variations in risk.

Results: In all, 5,620 participants were enrolled in our analysis, with 2,754 (49%) being female, and a mean (standard deviation, SD) age of 57 (15) years. The mean (SD) cumulative average VAI and LAP among all participants was 241 (2.71) and 75 (67), respectively. Totally, higher VAI and LAP indices were significantly associated with an increased risk of T2DM in individuals with hypertension. For VAI, the odds ratios (OR) for T2DM were higher in older adults (≥ 60 years) [95% confidence interval (CI): 1.37, 1.22-1.53, per 1 SD increase] and females [95% confidence interval (CI): 1.39, 1.27-1.52, per 1 SD increase], indicating age and gender differences in risk. Non-linear relationships were observed, suggesting thresholds beyond which the risk of T2DM escalates dramatically.

Conclusions: Both VAI and LAP are reliable markers for assessing T2DM risk in individuals with hypertension. Incorporating these indices into clinical practice could enhance the identification of high-risk individuals and facilitate early intervention strategies. Future longitudinal studies are needed to confirm these associations and explore targeted interventions.

背景:高血压的存在会大大增加患糖尿病,尤其是 2 型糖尿病的风险。最近,内脏脂肪指数(VAI)作为一种直接、可靠的替代指标被引入,用于早期检测代谢综合征、心血管疾病和 T2DM。内脏脂肪比皮下脂肪更危险,与代谢综合征和心血管疾病有关。内脏脂肪指数(VAI)和脂质累积乘积(LAP)分别是量化内脏脂肪和脂质过度累积的指数。本研究旨在利用 2005 年至 2018 年的 NHANES 数据,探讨美国成人高血压患者的 VAI、LAP 与 2 型糖尿病(T2DM)之间的关联:我们分析了美国国家健康与营养调查(NHANES)中 5620 名高血压参与者的数据。VAI 和 LAP 采用既定公式计算。VAI 根据腰围、体重指数 (BMI)、甘油三酯和高密度脂蛋白 (HDL) 胆固醇水平的组合计算得出。采用逻辑回归模型评估这些指数与 T2DM 之间的关系,并对潜在的混杂因素进行调整。还按年龄和性别进行了分组分析,以评估风险的变化:共有 5,620 人参与了我们的分析,其中 2,754 人(49%)为女性,平均(标准差,SD)年龄为 57(15)岁。所有参与者的平均(标准差)累积平均 VAI 和 LAP 分别为 241(2.71)和 75(67)。总之,VAI 和 LAP 指数越高,高血压患者罹患 T2DM 的风险就越大。就 VAI 而言,老年人(≥ 60 岁)[95% 置信区间 (CI):1.37,1.22-1.53,每增加 1 SD]和女性[95% 置信区间 (CI):1.39,1.27-1.52,每增加 1 SD]患 T2DM 的几率比(OR)更高,表明风险存在年龄和性别差异。观察到的非线性关系表明,T2DM 风险在超过阈值后会急剧上升:结论:VAI 和 LAP 都是评估高血压患者 T2DM 风险的可靠指标。结论:VAI 和 LAP 都是评估高血压患者 T2DM 风险的可靠指标,将这些指标纳入临床实践可提高对高危人群的识别能力,促进早期干预策略的实施。未来需要进行纵向研究,以确认这些关联并探索有针对性的干预措施。
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引用次数: 0
Associations of the cardiometabolic index with insulin resistance, prediabetes, and diabetes in U.S. adults: a cross-sectional study. 美国成年人的心脏代谢指数与胰岛素抵抗、糖尿病前期和糖尿病的关系:一项横断面研究。
IF 2.8 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-15 DOI: 10.1186/s12902-024-01676-4
An-Bang Liu, Yan-Xia Lin, Ting-Ting Meng, Peng Tian, Jian-Lin Chen, Xin-He Zhang, Wei-Hong Xu, Yu Zhang, Dan Zhang, Yan Zheng, Guo-Hai Su

Background: The cardiometabolic index (CMI) is a novel metric for assessing cardiometabolic health and type 2 diabetes mellitus (DM), yet its relationship with insulin resistance (IR) and prediabetes (preDM) is not well-studied. There is also a gap in understanding the nonlinear associations between CMI and these conditions. Our study aimed to elucidate these associations.

Methods: We included 13,142 adults from the National Health and Nutrition Examination Survey (NHANES) 2007-2020. CMI was calculated by multiplying the triglyceride-to-high density lipoprotein cholesterol (TG/HDL-C) by waist-to-height ratio (WHtR). Using weighted multivariable linear and logistic regression explored the relationships of CMI with glucose metabolism markers, IR, preDM, and DM. Nonlinear associations were assessed using generalized additive models (GAM), smooth curve fittings, and two-piecewise logistic regression.

Results: Multivariate regression revealed positive correlations between CMI and glucose metabolic biomarkers, including FBG (β = 0.08, 95% CI: 0.06-0.10), HbA1c (β = 0.26, 95% CI: 0.22-0.31), FSI (β = 4.88, 95% CI: 4.23-5.54), and HOMA-IR (β = 1.85, 95% CI: 1.56-2.14). There were also significant correlations between CMI and increased risk of IR (OR = 3.51, 95% CI: 2.94-4.20), preDM (OR = 1.49, 95% CI: 1.29-1.71), and DM (OR = 2.22, 95% CI: 2.00-2.47). Inverse nonlinear L-shaped associations were found between CMI and IR, preDM, and DM, with saturation inflection points at 1.1, 1.45, and 1.6, respectively. Below these thresholds, increments in CMI significantly correlated with heightened risks of IR, preDM, and DM.

Conclusions: CMI exhibited inverse L-shaped nonlinear relationships with IR, preDM, and DM, suggesting that reducing CMI to a certain level might significantly prevent these conditions.

背景:心脏代谢指数(CMI)是评估心脏代谢健康和 2 型糖尿病(DM)的新指标,但其与胰岛素抵抗(IR)和糖尿病前期(preDM)的关系尚未得到充分研究。对 CMI 与这些疾病之间的非线性关系的理解也存在空白。我们的研究旨在阐明这些关联:我们从 2007-2020 年美国国家健康与营养调查(NHANES)中纳入了 13142 名成年人。CMI通过甘油三酯-高密度脂蛋白胆固醇(TG/HDL-C)乘以腰围-身高比(WHtR)计算得出。利用加权多变量线性回归和逻辑回归探讨了 CMI 与糖代谢指标、IR、preDM 和 DM 的关系。使用广义加法模型(GAM)、平滑曲线拟合和双片式逻辑回归评估了非线性关联:多变量回归显示,CMI 与葡萄糖代谢生物标记物之间存在正相关,包括 FBG(β = 0.08,95% CI:0.06-0.10)、HbA1c(β = 0.26,95% CI:0.22-0.31)、FSI(β = 4.88,95% CI:4.23-5.54)和 HOMA-IR (β = 1.85,95% CI:1.56-2.14)。CMI与IR(OR = 3.51,95% CI:2.94-4.20)、preDM(OR = 1.49,95% CI:1.29-1.71)和DM(OR = 2.22,95% CI:2.00-2.47)风险增加之间也存在明显的相关性。在 CMI 与 IR、preDM 和 DM 之间发现了反向非线性 L 型关系,饱和拐点分别为 1.1、1.45 和 1.6。在这些临界点以下,CMI 的增加与 IR、preDM 和 DM 风险的增加显著相关:结论:CMI 与 IR、preDM 和 DM 呈反向 L 型非线性关系,这表明将 CMI 降低到一定水平可有效预防这些疾病。
{"title":"Associations of the cardiometabolic index with insulin resistance, prediabetes, and diabetes in U.S. adults: a cross-sectional study.","authors":"An-Bang Liu, Yan-Xia Lin, Ting-Ting Meng, Peng Tian, Jian-Lin Chen, Xin-He Zhang, Wei-Hong Xu, Yu Zhang, Dan Zhang, Yan Zheng, Guo-Hai Su","doi":"10.1186/s12902-024-01676-4","DOIUrl":"https://doi.org/10.1186/s12902-024-01676-4","url":null,"abstract":"<p><strong>Background: </strong>The cardiometabolic index (CMI) is a novel metric for assessing cardiometabolic health and type 2 diabetes mellitus (DM), yet its relationship with insulin resistance (IR) and prediabetes (preDM) is not well-studied. There is also a gap in understanding the nonlinear associations between CMI and these conditions. Our study aimed to elucidate these associations.</p><p><strong>Methods: </strong>We included 13,142 adults from the National Health and Nutrition Examination Survey (NHANES) 2007-2020. CMI was calculated by multiplying the triglyceride-to-high density lipoprotein cholesterol (TG/HDL-C) by waist-to-height ratio (WHtR). Using weighted multivariable linear and logistic regression explored the relationships of CMI with glucose metabolism markers, IR, preDM, and DM. Nonlinear associations were assessed using generalized additive models (GAM), smooth curve fittings, and two-piecewise logistic regression.</p><p><strong>Results: </strong>Multivariate regression revealed positive correlations between CMI and glucose metabolic biomarkers, including FBG (β = 0.08, 95% CI: 0.06-0.10), HbA1c (β = 0.26, 95% CI: 0.22-0.31), FSI (β = 4.88, 95% CI: 4.23-5.54), and HOMA-IR (β = 1.85, 95% CI: 1.56-2.14). There were also significant correlations between CMI and increased risk of IR (OR = 3.51, 95% CI: 2.94-4.20), preDM (OR = 1.49, 95% CI: 1.29-1.71), and DM (OR = 2.22, 95% CI: 2.00-2.47). Inverse nonlinear L-shaped associations were found between CMI and IR, preDM, and DM, with saturation inflection points at 1.1, 1.45, and 1.6, respectively. Below these thresholds, increments in CMI significantly correlated with heightened risks of IR, preDM, and DM.</p><p><strong>Conclusions: </strong>CMI exhibited inverse L-shaped nonlinear relationships with IR, preDM, and DM, suggesting that reducing CMI to a certain level might significantly prevent these conditions.</p>","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11475834/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142458058","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Targeted long-read sequencing identifies missing pathogenic variant in unsolved 11β-hydroxylase deficiency. 靶向长线程测序确定了未解决的 11β- 羟化酶缺乏症中缺失的致病变体。
IF 2.8 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-14 DOI: 10.1186/s12902-024-01748-5
Jidong Liu, Huihui Tian, Xinchen Jin, Yanxiang Wang, Zhenhong Zhang, Mengxue Li, Lulu Dai, Xiaoli Zhang, Ling Jiang

Background: 11β-hydroxylase deficiency (11β-OHD), caused by homozygosity or compound heterozygosity CYP11B1 variants, is the second most common cause of congenital adrenal hyperplasia (CAH). Due to the high degree of sequence identity between CYP11B1 and CYP11B2, chimeric genes, and complex structural variants (SVs), the conventional approach to gene testing for 11β-OHD is facing challenges. The study aimed to clarify the underlying genetic causes of two siblings of a Chinese family with 11β-OHD.

Methods: Peripheral blood samples and clinical information were collected from subjects and their family members. Sex steroid concentrations were measured using LC-MS/MS. Long-range PCR-based next-generation sequencing (NGS), PCR assay and target long-read sequencing were used to detect the pathogenic variants.

Results: Early onset hypertension, increased serum levels of adrenocorticotropin (ACTH), progesterone, testosterone, and decreased cortisol and potassium were detected in both affected siblings. Long-range PCR-based NGS identified a heterozygous missense variant (NM_000497.4:c.281 C > T, p.P94> L) in CYP11B1 gene in the two siblings. PCR detected no chimeric CYP11B2/CYP11B1 gene. We finally identified a second pathogenic variant in CYP11B1 gene via target long-read sequencing (T-LRS). This novel variant was a deletion-insertion variant and located chr8:143957269-143,957,579 (hg19) with the insertion of 'ACAG' (NM_000497.4:c.954 + 78_980delinsACAG), which was in trans with CYP11B1: c.281 C > T.

Conclusions: Our study suggests that the integrated long-range PCR-based NGS and T-LRS seem to be the most reliable and accurate method for 11β-OHD genetic diagnosis and carrier sequencing.

背景:11β-羟化酶缺乏症(11β-OHD)是先天性肾上腺皮质增生症(CAH)的第二大常见病因,由同源性或复合杂合性 CYP11B1 变体引起。由于 CYP11B1 和 CYP11B2、嵌合基因和复杂结构变异(SVs)之间的序列高度一致,11β-OHD 基因检测的传统方法正面临着挑战。本研究旨在阐明一个中国 11β-OHD 家族中两个兄弟姐妹的潜在遗传原因:方法:收集受试者及其家庭成员的外周血样本和临床信息。方法:收集受试者及其家庭成员的外周血样本和临床信息,使用 LC-MS/MS 测定性激素浓度。采用基于长程 PCR 的新一代测序(NGS)、PCR 检测和目标长读测序来检测致病变体:结果:在两个受影响的兄弟姐妹中均检测到早发性高血压,血清中促肾上腺皮质激素(ACTH)、孕酮、睾酮水平升高,皮质醇和钾水平降低。基于长程 PCR 的 NGS 鉴定出两个兄弟姐妹的 CYP11B1 基因存在杂合错义变异(NM_000497.4:c.281 C > T, p.P94>L)。PCR 检测没有发现嵌合的 CYP11B2/CYP11B1 基因。最后,我们通过靶向长读测序(T-LRS)在 CYP11B1 基因中发现了第二个致病变体。这个新变异是一个缺失-插入变异,位于 chr8:143957269-143,957,579 (hg19),插入'ACAG'(NM_000497.4:c.954 + 78_980delinsACAG),与 CYP11B1 基因反式:c.281 C > T:我们的研究表明,基于长程 PCR 的 NGS 和 T-LRS 集成似乎是 11β-OHD 基因诊断和携带者测序最可靠、最准确的方法。
{"title":"Targeted long-read sequencing identifies missing pathogenic variant in unsolved 11β-hydroxylase deficiency.","authors":"Jidong Liu, Huihui Tian, Xinchen Jin, Yanxiang Wang, Zhenhong Zhang, Mengxue Li, Lulu Dai, Xiaoli Zhang, Ling Jiang","doi":"10.1186/s12902-024-01748-5","DOIUrl":"https://doi.org/10.1186/s12902-024-01748-5","url":null,"abstract":"<p><strong>Background: </strong>11β-hydroxylase deficiency (11β-OHD), caused by homozygosity or compound heterozygosity CYP11B1 variants, is the second most common cause of congenital adrenal hyperplasia (CAH). Due to the high degree of sequence identity between CYP11B1 and CYP11B2, chimeric genes, and complex structural variants (SVs), the conventional approach to gene testing for 11β-OHD is facing challenges. The study aimed to clarify the underlying genetic causes of two siblings of a Chinese family with 11β-OHD.</p><p><strong>Methods: </strong>Peripheral blood samples and clinical information were collected from subjects and their family members. Sex steroid concentrations were measured using LC-MS/MS. Long-range PCR-based next-generation sequencing (NGS), PCR assay and target long-read sequencing were used to detect the pathogenic variants.</p><p><strong>Results: </strong>Early onset hypertension, increased serum levels of adrenocorticotropin (ACTH), progesterone, testosterone, and decreased cortisol and potassium were detected in both affected siblings. Long-range PCR-based NGS identified a heterozygous missense variant (NM_000497.4:c.281 C > T, p.P94> L) in CYP11B1 gene in the two siblings. PCR detected no chimeric CYP11B2/CYP11B1 gene. We finally identified a second pathogenic variant in CYP11B1 gene via target long-read sequencing (T-LRS). This novel variant was a deletion-insertion variant and located chr8:143957269-143,957,579 (hg19) with the insertion of 'ACAG' (NM_000497.4:c.954 + 78_980delinsACAG), which was in trans with CYP11B1: c.281 C > T.</p><p><strong>Conclusions: </strong>Our study suggests that the integrated long-range PCR-based NGS and T-LRS seem to be the most reliable and accurate method for 11β-OHD genetic diagnosis and carrier sequencing.</p>","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11472585/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142458060","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Association between gut microbiota and diabetic nephropathy: a two-sample mendelian randomization study. 肠道微生物群与糖尿病肾病之间的关系:一项双样本泯灭随机研究。
IF 2.8 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-11 DOI: 10.1186/s12902-024-01746-7
Shisheng Han, Yinqing Chen, Yan Lu, Meng Jia, Yanqiu Xu, Yi Wang

Background: Observational studies have demonstrated the alterations of gut microbiota composition in diabetic nephropathy (DN), however, the correlation between gut microbiota and DN remains unclear.

Methods: A two-sample Mendelian randomization (MR) analysis was designed to estimate the association between gut microbiota and DN. The summary statistics of gut microbiota from phylum level to genus level were obtained from a large-scale, genome-wide association study involving 18,340 individuals, and the data at the species level was derived from the study of TwinsUK Registry, including 1126 twin pairs. The summary statistics of DN were originated from the latest release data of FinnGen (R7, 299623 participants). The MR estimation was calculated using inverse variance weighted, weighted median, MR-Egger regression, and MR-PRESSO. Heterogeneity was assessed using Cochrane's Q test.

Results: Inverse variance weighted results indicated that the order Bacteroidetes and its corresponding class and phylum [odds ratio (OR), 1.58; 95% confidence interval (CI), 1.15-2.17], the family Verrucomicrobiaceae and its corresponding class and order (OR, 1.46; 95% CI, 1.14-1.87), the genera Akkermansia (OR, 1.46; 95% CI, 1.14-1.87) and Catenibacterium (OR, 1.33; 95% CI, 1.07-1.66) might be associated with a higher risk of DN; whereas the genera Coprococcus2 (OR, 0.68; 95% CI, 0.51-0.91) and Eubacterium_coprostanoligenes_group (OR, 0.69; 95% CI, 0.52-0.92) might play protective roles in DN.

Conclusions: This MR study suggested that several gut bacteria were potentially associated with DN, further studies are required to validate these findings.

背景:观察性研究表明,糖尿病肾病(DN)患者的肠道微生物群组成发生了改变,然而,肠道微生物群与DN之间的相关性仍不清楚:方法:设计了一个双样本孟德尔随机化(MR)分析来估计肠道微生物群与 DN 之间的关系。肠道微生物群从门级到属级的汇总统计数据来自一项涉及 18,340 人的大规模全基因组关联研究,种级数据来自 TwinsUK 注册研究,包括 1126 对双胞胎。DN的汇总统计数据来自FinnGen最新发布的数据(R7,299623名参与者)。使用逆方差加权、加权中位数、MR-Egger回归和MR-PRESSO计算MR估计值。异质性采用 Cochrane's Q 检验进行评估:反方差加权结果表明,类杆菌目及其相应的类和门[几率比(OR),1.58;95% 置信区间(CI),1.15-2.17]、Verrucomicrobiaceae 科及其相应的类和目(OR,1.46;95% CI,1.14-1.87)、Akkermansia 属(OR,1.46;95% CI,1.14-1.87)和 Catenibacterium(OR,1.33;95% CI,1.07-1.66)可能与较高的 DN 风险相关;而 Coprococcus2 属(OR,0.68;95% CI,0.51-0.91)和 Eubacterium_coprostanoligenes_group(OR,0.69;95% CI,0.52-0.92)可能在 DN 中发挥保护作用:这项磁共振研究表明,几种肠道细菌可能与 DN 有关,需要进一步研究来验证这些发现。
{"title":"Association between gut microbiota and diabetic nephropathy: a two-sample mendelian randomization study.","authors":"Shisheng Han, Yinqing Chen, Yan Lu, Meng Jia, Yanqiu Xu, Yi Wang","doi":"10.1186/s12902-024-01746-7","DOIUrl":"10.1186/s12902-024-01746-7","url":null,"abstract":"<p><strong>Background: </strong>Observational studies have demonstrated the alterations of gut microbiota composition in diabetic nephropathy (DN), however, the correlation between gut microbiota and DN remains unclear.</p><p><strong>Methods: </strong>A two-sample Mendelian randomization (MR) analysis was designed to estimate the association between gut microbiota and DN. The summary statistics of gut microbiota from phylum level to genus level were obtained from a large-scale, genome-wide association study involving 18,340 individuals, and the data at the species level was derived from the study of TwinsUK Registry, including 1126 twin pairs. The summary statistics of DN were originated from the latest release data of FinnGen (R7, 299623 participants). The MR estimation was calculated using inverse variance weighted, weighted median, MR-Egger regression, and MR-PRESSO. Heterogeneity was assessed using Cochrane's Q test.</p><p><strong>Results: </strong>Inverse variance weighted results indicated that the order Bacteroidetes and its corresponding class and phylum [odds ratio (OR), 1.58; 95% confidence interval (CI), 1.15-2.17], the family Verrucomicrobiaceae and its corresponding class and order (OR, 1.46; 95% CI, 1.14-1.87), the genera Akkermansia (OR, 1.46; 95% CI, 1.14-1.87) and Catenibacterium (OR, 1.33; 95% CI, 1.07-1.66) might be associated with a higher risk of DN; whereas the genera Coprococcus2 (OR, 0.68; 95% CI, 0.51-0.91) and Eubacterium_coprostanoligenes_group (OR, 0.69; 95% CI, 0.52-0.92) might play protective roles in DN.</p><p><strong>Conclusions: </strong>This MR study suggested that several gut bacteria were potentially associated with DN, further studies are required to validate these findings.</p>","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11468553/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142399399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
HbA1c comparable to fasting glucose in the external validation of the African Diabetes Risk Score and other established risk prediction models in Black South Africans. 在对南非黑人的非洲糖尿病风险评分和其他既定风险预测模型进行外部验证时,HbA1c 可与空腹血糖相媲美。
IF 2.8 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-10 DOI: 10.1186/s12902-024-01735-w
Nicola Royce, Héléne T Cronjé, André P Kengne, Herculina S Kruger, Robin C Dolman-Macleod, Marlien Pieters

Background: The use of non-invasive risk scores to detect undiagnosed type 2 diabetes (T2D) ensures the restriction of invasive and costly blood tests to those most likely to be diagnosed with the disease. This study assessed and compared the performance of the African Diabetes Risk Score (ADRS) with three other diabetes risk prediction models for identifying screen-detected diabetes based on fasting plasma glucose (FPG) or glycated haemoglobin (HBA1c).

Methods: Age, sex, waist circumference, body mass index, blood pressure, history of diabetes and physical activity levels from the SA-NW-PURE study were used to externally validate the ADRS and other established risk prediction models. Discrimination was assessed and compared using C-statistics and nonparametric methods. Calibration was assessed using calibration plots, before and after recalibration.

Results: Nine hundred and thirty-seven participants were included; 14% had prevalent undiagnosed T2D according to FPG and 26% according to HbA1c. Discrimination was acceptable and was mostly similar between models for both diagnostic measures. The C-statistics for diagnosis by FPG ranged from 0.69 for the Simplified FINDRISC model to 0.77 for the ADRS model and 0.77 for the Simplified FINDRISC model to 0.79 for the ADRS model for diagnosis by HbA1c. Calibration ranged from acceptable to good, though over- and underestimation were present. All models improved significantly following recalibration.

Conclusions: The models performed comparably, with the ADRS offering a non-invasive way to identify up to 79% of cases. Based on its ease of use and performance, the ADRS is recommended for screening for T2D in certain Black population groups in South Africa. HbA1c as a means of diagnosis also showed comparable performance with FPG. Therefore, further validation studies can potentially use HbA1c as the standard to compare to.

背景:使用非侵入性风险评分检测未确诊的 2 型糖尿病(T2D)可确保将侵入性和昂贵的血液检测限制在最有可能确诊该病的人群中。本研究评估并比较了非洲糖尿病风险评分(ADRS)与其他三种糖尿病风险预测模型的性能,以确定基于空腹血浆葡萄糖(FPG)或糖化血红蛋白(HBA1c)筛查出的糖尿病:方法:使用SA-NW-PURE研究中的年龄、性别、腰围、体重指数、血压、糖尿病史和体力活动水平对ADRS和其他已建立的风险预测模型进行外部验证。使用 C 统计量和非参数方法评估和比较了区分度。使用校准图评估重新校准前后的校准情况:共纳入 937 名参与者;根据 FPG 和 HbA1c,分别有 14% 和 26% 的未确诊 T2D 患者。两种诊断方法的区分度均可接受,且不同模型之间的区分度基本相似。按 FPG 诊断的 C 统计量从简化 FINDRISC 模型的 0.69 到 ADRS 模型的 0.77 不等,按 HbA1c 诊断的 C 统计量从简化 FINDRISC 模型的 0.77 到 ADRS 模型的 0.79 不等。校准结果从可接受到良好不等,但也存在高估和低估的情况。所有模型在重新校准后都有明显改善:这些模型的性能相当,其中 ADRS 提供了一种无创方法,可识别高达 79% 的病例。基于其易用性和性能,建议将 ADRS 用于南非某些黑人群体的 T2D 筛查。作为诊断手段的 HbA1c 也显示出与 FPG 相当的性能。因此,进一步的验证研究有可能将 HbA1c 作为比较的标准。
{"title":"HbA1c comparable to fasting glucose in the external validation of the African Diabetes Risk Score and other established risk prediction models in Black South Africans.","authors":"Nicola Royce, Héléne T Cronjé, André P Kengne, Herculina S Kruger, Robin C Dolman-Macleod, Marlien Pieters","doi":"10.1186/s12902-024-01735-w","DOIUrl":"10.1186/s12902-024-01735-w","url":null,"abstract":"<p><strong>Background: </strong>The use of non-invasive risk scores to detect undiagnosed type 2 diabetes (T2D) ensures the restriction of invasive and costly blood tests to those most likely to be diagnosed with the disease. This study assessed and compared the performance of the African Diabetes Risk Score (ADRS) with three other diabetes risk prediction models for identifying screen-detected diabetes based on fasting plasma glucose (FPG) or glycated haemoglobin (HBA1c).</p><p><strong>Methods: </strong>Age, sex, waist circumference, body mass index, blood pressure, history of diabetes and physical activity levels from the SA-NW-PURE study were used to externally validate the ADRS and other established risk prediction models. Discrimination was assessed and compared using C-statistics and nonparametric methods. Calibration was assessed using calibration plots, before and after recalibration.</p><p><strong>Results: </strong>Nine hundred and thirty-seven participants were included; 14% had prevalent undiagnosed T2D according to FPG and 26% according to HbA1c. Discrimination was acceptable and was mostly similar between models for both diagnostic measures. The C-statistics for diagnosis by FPG ranged from 0.69 for the Simplified FINDRISC model to 0.77 for the ADRS model and 0.77 for the Simplified FINDRISC model to 0.79 for the ADRS model for diagnosis by HbA1c. Calibration ranged from acceptable to good, though over- and underestimation were present. All models improved significantly following recalibration.</p><p><strong>Conclusions: </strong>The models performed comparably, with the ADRS offering a non-invasive way to identify up to 79% of cases. Based on its ease of use and performance, the ADRS is recommended for screening for T2D in certain Black population groups in South Africa. HbA1c as a means of diagnosis also showed comparable performance with FPG. Therefore, further validation studies can potentially use HbA1c as the standard to compare to.</p>","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11465613/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142399400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
The effects of supervised aerobic training on dyslipidaemia among diabetic older patients. 有监督的有氧训练对老年糖尿病患者血脂异常的影响。
IF 2.8 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-09 DOI: 10.1186/s12902-024-01745-8
Ahmad H Alghadir, Sami A Gabr, Amir Iqbal
<p><strong>Background: </strong>Higher prevalence rates of diabetes and its complications have been reported among individuals with poor physical activity and a sedentary lifestyle. This study explored the influence of six months of moderate-intensity supervised aerobic training on the serum lipid profile, hs-CRP level, and variable-related correlations in prediabetic and type 2 diabetes patients (T2DM).</p><p><strong>Design: </strong>The study was based on a two-arm parallel group pretest‒posttest comparative design.</p><p><strong>Methods: </strong>A total of 50 subjects who were diagnosed with diabetes for more than five years and aged 30-70 years were included in this study. The subjects were classified into two groups on the basis of their glycated haemoglobin (HbA1c%) values: Group 1 (patients with the prediabetes; HbA1c % ≤ 6.5, n = 25) and Group 2 (patients with the T2DM; HbA1c % ≥ 6.5, n = 25). Blood sugar, HbA1c %, insulin, lipid profile, and highly sensitive CRP (hs-CRP) were measured via colorimetric and immunoassay techniques at baseline and six months postintervention with moderate aerobic exercise.</p><p><strong>Results: </strong>The results revealed that participation in moderate aerobic training interventions for six months resulted in a significant reduction in BMI, fasting blood sugar, glycosylated haemoglobin, hs-CRP, and lipid profile parameters such as T-Cholest, TG, and LDL-C as well as significant improvement in the level of insulin with a reduction in the values of HOMA-IR towards normal values in the patients with prediabetes (P < 0.01) in group 1 and patients with diabetes in group 2 (P < 0.001). The change in VO<sub>2</sub>max with good physical fitness significantly improved with the exercise program after six months. The reduced levels of hs-CRP, HOMA-IR, and lipid profile and improved levels of insulin were significantly positively correlated with the levels of glycated haemoglobin (HbA1c%) in the patients with prediabetes (P < 0.01) and those with diabetes (P < 0.001) following six months of moderate aerobic training interventions. Moreover, hs-CRP was positively correlated with T-Cholest, TG, and LDL-C (p = 0.01) and negatively correlated with HDL-C. The data revealed improved glycemic control factors, lipid profiles, and hs-CRP levels as cardio-predictive markers in patients with both prediabetes and diabetes as well. These findings suggest that the anti-inflammatory effect of physical activity gained from moderate exercise training for six months may counteract increased cardiovascular complications associated with increased CRP levels and lipid profiles in prediabetes and T2DM patients.</p><p><strong>Conclusions: </strong>Moderate aerobic training for six months favourably affects glycemic parameters, lipid profiles, and inflammatory hs-CRP indicators and improves VO<sub>2</sub>max, an indicator of physical fitness, in prediabetic and diabetic patients. The data obtained suggest the positive effect of moderate e
背景:据报道,体力活动少和久坐不动的人患糖尿病及其并发症的比例较高。本研究探讨了为期 6 个月的中等强度有氧训练对糖尿病前期和 2 型糖尿病患者(T2DM)血清脂质概况、hs-CRP 水平和变量相关性的影响:研究采用两臂平行分组前测-后测对比设计:本研究共纳入 50 名确诊糖尿病五年以上、年龄在 30-70 岁之间的受试者。根据糖化血红蛋白(HbA1c%)值将受试者分为两组:第 1 组(糖尿病前期患者;HbA1c ≤ 6.5,n = 25)和第 2 组(T2DM 患者;HbA1c ≥ 6.5,n = 25)。通过比色法和免疫测定法对基线血糖、HbA1c %、胰岛素、血脂和高敏 CRP(hs-CRP)进行测量,并在干预后六个月进行适度有氧运动:结果表明,参加为期六个月的中等强度有氧运动训练干预后,糖尿病前期患者的体重指数、空腹血糖、糖化血红蛋白、高敏CRP、血脂指标(如胆固醇、总胆固醇和低密度脂蛋白胆固醇)均显著降低,胰岛素水平也有明显改善,HOMA-IR值也向正常值降低(P 2max)。糖尿病前期患者的 hs-CRP、HOMA-IR 和血脂水平的降低以及胰岛素水平的改善与糖化血红蛋白(HbA1c%)水平呈显著正相关(P 结论:糖尿病前期患者的 Hs-CRP、HOMA-IR 和血脂水平的降低以及胰岛素水平的改善与糖化血红蛋白(HbA1c%)水平呈显著正相关:为期六个月的适度有氧训练对糖尿病前期和糖尿病患者的血糖参数、血脂概况和炎症性 hs-CRP 指标产生了有利影响,并提高了体能指标 VO2max。获得的数据表明,适度的运动训练对糖尿病前期和 T2DM 患者的心血管疾病,包括血脂异常、血糖控制和 hs-CRP 炎症指标具有积极的保护调节作用。因此,定期锻炼具有抗炎作用,能改善心肺功能、血脂状况、血糖水平和胰岛素抵抗,有助于减轻糖尿病前期、T2DM 患者和健康对照组心血管疾病的严重程度:试验注册:已在 ClinicalTrials.gov PRS 上进行了回顾性注册,试验标识符 ID:NCT06246435:NCT06246435,日期为 2024 年 1 月 30 日。
{"title":"The effects of supervised aerobic training on dyslipidaemia among diabetic older patients.","authors":"Ahmad H Alghadir, Sami A Gabr, Amir Iqbal","doi":"10.1186/s12902-024-01745-8","DOIUrl":"10.1186/s12902-024-01745-8","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Higher prevalence rates of diabetes and its complications have been reported among individuals with poor physical activity and a sedentary lifestyle. This study explored the influence of six months of moderate-intensity supervised aerobic training on the serum lipid profile, hs-CRP level, and variable-related correlations in prediabetic and type 2 diabetes patients (T2DM).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Design: &lt;/strong&gt;The study was based on a two-arm parallel group pretest‒posttest comparative design.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;A total of 50 subjects who were diagnosed with diabetes for more than five years and aged 30-70 years were included in this study. The subjects were classified into two groups on the basis of their glycated haemoglobin (HbA1c%) values: Group 1 (patients with the prediabetes; HbA1c % ≤ 6.5, n = 25) and Group 2 (patients with the T2DM; HbA1c % ≥ 6.5, n = 25). Blood sugar, HbA1c %, insulin, lipid profile, and highly sensitive CRP (hs-CRP) were measured via colorimetric and immunoassay techniques at baseline and six months postintervention with moderate aerobic exercise.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;The results revealed that participation in moderate aerobic training interventions for six months resulted in a significant reduction in BMI, fasting blood sugar, glycosylated haemoglobin, hs-CRP, and lipid profile parameters such as T-Cholest, TG, and LDL-C as well as significant improvement in the level of insulin with a reduction in the values of HOMA-IR towards normal values in the patients with prediabetes (P &lt; 0.01) in group 1 and patients with diabetes in group 2 (P &lt; 0.001). The change in VO&lt;sub&gt;2&lt;/sub&gt;max with good physical fitness significantly improved with the exercise program after six months. The reduced levels of hs-CRP, HOMA-IR, and lipid profile and improved levels of insulin were significantly positively correlated with the levels of glycated haemoglobin (HbA1c%) in the patients with prediabetes (P &lt; 0.01) and those with diabetes (P &lt; 0.001) following six months of moderate aerobic training interventions. Moreover, hs-CRP was positively correlated with T-Cholest, TG, and LDL-C (p = 0.01) and negatively correlated with HDL-C. The data revealed improved glycemic control factors, lipid profiles, and hs-CRP levels as cardio-predictive markers in patients with both prediabetes and diabetes as well. These findings suggest that the anti-inflammatory effect of physical activity gained from moderate exercise training for six months may counteract increased cardiovascular complications associated with increased CRP levels and lipid profiles in prediabetes and T2DM patients.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;Moderate aerobic training for six months favourably affects glycemic parameters, lipid profiles, and inflammatory hs-CRP indicators and improves VO&lt;sub&gt;2&lt;/sub&gt;max, an indicator of physical fitness, in prediabetic and diabetic patients. The data obtained suggest the positive effect of moderate e","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11462724/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142387977","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Arginine vasopressin deficiency (central diabetes insipidus) with partial empty sella: a case report. 精氨酸加压素缺乏症(中枢性糖尿病)伴部分蝶鞍空虚:病例报告。
IF 2.8 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-08 DOI: 10.1186/s12902-024-01741-y
Kibret Enyew Belay, Rebil H Jemal, Ayele H Kebede, Meron G Tulu, Alamirew Enyew Belay, Asteway Mulat Haile, Samuel A Demisse

Background: Arginine vasopressin deficiency (central diabetes insipidus) is defined as a reduction in the release of arginine vasopressin (AVP) resulting in a variable degree of polyuria. Partial empty sella refers to an enlarged sella turcica that is not completely filled by pituitary gland. It can be either primary or secondary and its manifestation ranges from asymptomatic cases to isolated posterior pituitary, isolated anterior pituitary or both anterior and posterior pituitary dysfunctions. Diabetes insipidus caused by a partially empty sella is rare.

Case presentation: The patient, an 18-year-old Ethiopian woman who presented with long standing headache, increased urination, increased thirst, absence of menses and weight loss. Urine and serum osmolality was done and suggested diabetes insipidus. On further workup, brain magnetic resonant imaging was done and partially empty sella was diagnosed.

Conclusion: Diabetes insipidus secondary to partially empty sella is uncommon. In patients presenting with headache and anterior or posterior pituitary dysfunction, empty sella should be considered, whether partial or complete.

背景:精氨酸加压素缺乏症(中枢性糖尿病)是指精氨酸加压素(AVP)释放减少,导致不同程度的多尿。部分空蝶鞍指的是脑垂体未完全充盈的肿大蝶鞍。它既可以是原发性的,也可以是继发性的,其表现范围从无症状病例到孤立的垂体后叶、孤立的垂体前叶或垂体前后叶功能障碍。因蝶鞍部分空虚而导致的糖尿病性尿崩症非常罕见:患者是一名 18 岁的埃塞俄比亚女性,因长期头痛、排尿增多、口渴、无月经和体重减轻而就诊。尿液和血清渗透压检查结果显示她患有糖尿病。进一步检查后,做了脑磁共振成像,诊断为部分空蝶鞍:结论:继发于部分脑脊膜空洞的糖尿病性尿崩症并不常见。结论:继发于部分脑蝶鞍空洞的糖尿病性血脂症并不常见,对于出现头痛、垂体前叶或后叶功能障碍的患者,应考虑脑蝶鞍部分或完全空洞。
{"title":"Arginine vasopressin deficiency (central diabetes insipidus) with partial empty sella: a case report.","authors":"Kibret Enyew Belay, Rebil H Jemal, Ayele H Kebede, Meron G Tulu, Alamirew Enyew Belay, Asteway Mulat Haile, Samuel A Demisse","doi":"10.1186/s12902-024-01741-y","DOIUrl":"10.1186/s12902-024-01741-y","url":null,"abstract":"<p><strong>Background: </strong>Arginine vasopressin deficiency (central diabetes insipidus) is defined as a reduction in the release of arginine vasopressin (AVP) resulting in a variable degree of polyuria. Partial empty sella refers to an enlarged sella turcica that is not completely filled by pituitary gland. It can be either primary or secondary and its manifestation ranges from asymptomatic cases to isolated posterior pituitary, isolated anterior pituitary or both anterior and posterior pituitary dysfunctions. Diabetes insipidus caused by a partially empty sella is rare.</p><p><strong>Case presentation: </strong>The patient, an 18-year-old Ethiopian woman who presented with long standing headache, increased urination, increased thirst, absence of menses and weight loss. Urine and serum osmolality was done and suggested diabetes insipidus. On further workup, brain magnetic resonant imaging was done and partially empty sella was diagnosed.</p><p><strong>Conclusion: </strong>Diabetes insipidus secondary to partially empty sella is uncommon. In patients presenting with headache and anterior or posterior pituitary dysfunction, empty sella should be considered, whether partial or complete.</p>","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11460033/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142387975","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
The effect of Oleoylethanolamide supplementation on lipid profile, fasting blood sugar and dietary habits in obese people: a randomized double-blind placebo-control trial. 补充油酰乙醇酰胺对肥胖者血脂、空腹血糖和饮食习惯的影响:随机双盲安慰剂对照试验。
IF 2.8 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-08 DOI: 10.1186/s12902-024-01738-7
Alireza Ostadrahimi, Yaser Khajebishak, Fardin Moradi, Laleh Payahoo

Background: Abnormalities in biochemical parameters and changes in eating habits are considered complications of obesity. Oleoylethanolamide (OEA), an endocannabinoid-like compound, has been shown to have protective effects on many metabolic disorders. Given this evidence, the present study aimed to assess the effects of OEA on lipid profile parameters, fasting blood sugar (FBS), and dietary habits in healthy obese people.

Methods: In this randomized, double-blind, placebo-controlled clinical trial, which was carried out in 2016 in Tabriz, Iran, 60 obese people were enrolled in the study based on inclusion criteria. The intervention group consumed 125 mg of OEA capsules, and the placebo group received the same amount of starch twice for 8 weeks. Blood samples (5 mL) were taken at baseline and the end of the study in a fasting state. Serum concentrations of FBS, triglycerides (TGs), high-density lipoprotein cholesterol (HDL-C), and total cholesterol (TC) were measured by enzymatic methods using commercial kits. The low-density lipoprotein cholesterol (LDL-C) concentration was obtained using the Friede-Wald formula. To assess dietary habits, a food frequency questionnaire (147 items) was used at baseline and the end of the study. A value less than < 0.05 was considered to indicate statistical significance.

Results: The TG concentration decreased significantly in the intervention group (mean (SD): 166.29 (70.01) mg/dL to 142.22 (48.05) mg/dL, p = 0.047). Changes in the placebo group were not significant (p > 0.05). After adjusting for baseline values and demographic characteristics, the difference in TG between groups remained significant (p = 0.044). Changes in other biochemical parameters were not significant. There was no significant difference between or within groups in terms of food groups.

Conclusion: OEA, as a complementary agent, plays a protective role in TG regulation. However, future studies with longer durations are needed to explore the impact of OEA on regulating dietary habits and to identify the mechanisms related to metabolic abnormalities in obese people.

Trial registration: The study was registered in the Iranian Registry of Clinical Trials (IRCT) center as IRCT201607132017N30 with URL. www.IRCT.IR in date 03/10/2016.

背景:生化指标异常和饮食习惯改变被认为是肥胖症的并发症。油酰乙醇酰胺(OEA)是一种类似于内源性大麻素的化合物,已被证明对许多代谢紊乱具有保护作用。鉴于这些证据,本研究旨在评估 OEA 对健康肥胖者的血脂谱参数、空腹血糖(FBS)和饮食习惯的影响:这项随机、双盲、安慰剂对照临床试验于 2016 年在伊朗大不里士进行,根据纳入标准,60 名肥胖者被纳入研究。干预组服用 125 毫克 OEA 胶囊,安慰剂组两次服用相同量的淀粉,为期 8 周。分别在基线和研究结束时空腹抽取血液样本(5 毫升)。血清中的 FBS、甘油三酯(TGs)、高密度脂蛋白胆固醇(HDL-C)和总胆固醇(TC)的浓度是通过酶法使用商业试剂盒测定的。低密度脂蛋白胆固醇(LDL-C)浓度采用弗里德-瓦尔德公式计算得出。为了评估饮食习惯,在基线和研究结束时使用了食物频率问卷(147 项)。结果干预组的 TG 浓度明显降低(平均值(标清):166.29 (70.01) mg/dL 降至 142.22 (48.05) mg/dL,p = 0.047)。安慰剂组的变化不显著(p > 0.05)。调整基线值和人口统计学特征后,各组之间的总胆固醇差异仍然显著(p = 0.044)。其他生化指标的变化不显著。在食物组别方面,组间和组内均无明显差异:结论:作为一种补充剂,OEA 对总胆固醇的调节具有保护作用。结论:OEA 作为一种补充剂,在调节总胆固醇方面发挥着保护作用。不过,今后还需要进行持续时间更长的研究,以探讨 OEA 对调节饮食习惯的影响,并确定与肥胖者代谢异常有关的机制:该研究已在伊朗临床试验注册中心(IRCT)注册,注册号为 IRCT201607132017N30,网址为 www.IRCT.IR,注册日期为 2016 年 10 月 3 日。
{"title":"The effect of Oleoylethanolamide supplementation on lipid profile, fasting blood sugar and dietary habits in obese people: a randomized double-blind placebo-control trial.","authors":"Alireza Ostadrahimi, Yaser Khajebishak, Fardin Moradi, Laleh Payahoo","doi":"10.1186/s12902-024-01738-7","DOIUrl":"10.1186/s12902-024-01738-7","url":null,"abstract":"<p><strong>Background: </strong>Abnormalities in biochemical parameters and changes in eating habits are considered complications of obesity. Oleoylethanolamide (OEA), an endocannabinoid-like compound, has been shown to have protective effects on many metabolic disorders. Given this evidence, the present study aimed to assess the effects of OEA on lipid profile parameters, fasting blood sugar (FBS), and dietary habits in healthy obese people.</p><p><strong>Methods: </strong>In this randomized, double-blind, placebo-controlled clinical trial, which was carried out in 2016 in Tabriz, Iran, 60 obese people were enrolled in the study based on inclusion criteria. The intervention group consumed 125 mg of OEA capsules, and the placebo group received the same amount of starch twice for 8 weeks. Blood samples (5 mL) were taken at baseline and the end of the study in a fasting state. Serum concentrations of FBS, triglycerides (TGs), high-density lipoprotein cholesterol (HDL-C), and total cholesterol (TC) were measured by enzymatic methods using commercial kits. The low-density lipoprotein cholesterol (LDL-C) concentration was obtained using the Friede-Wald formula. To assess dietary habits, a food frequency questionnaire (147 items) was used at baseline and the end of the study. A value less than < 0.05 was considered to indicate statistical significance.</p><p><strong>Results: </strong>The TG concentration decreased significantly in the intervention group (mean (SD): 166.29 (70.01) mg/dL to 142.22 (48.05) mg/dL, p = 0.047). Changes in the placebo group were not significant (p > 0.05). After adjusting for baseline values and demographic characteristics, the difference in TG between groups remained significant (p = 0.044). Changes in other biochemical parameters were not significant. There was no significant difference between or within groups in terms of food groups.</p><p><strong>Conclusion: </strong>OEA, as a complementary agent, plays a protective role in TG regulation. However, future studies with longer durations are needed to explore the impact of OEA on regulating dietary habits and to identify the mechanisms related to metabolic abnormalities in obese people.</p><p><strong>Trial registration: </strong>The study was registered in the Iranian Registry of Clinical Trials (IRCT) center as IRCT201607132017N30 with URL. www.IRCT.IR in date 03/10/2016.</p>","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11460158/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142387976","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
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BMC Endocrine Disorders
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