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Cystatin C and eGFRCKD-EPI-CysC: novel biomarkers for renal impairment diagnosis and two-year progression-free survival in multiple myeloma. 胱抑素 C 和 eGFRCKD-EPI-CysC:诊断多发性骨髓瘤肾功能损伤和两年无进展生存期的新型生物标记物。
IF 1.3 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2023-12-01 Epub Date: 2024-01-24 DOI: 10.1080/00365513.2023.2297364
Jian Niu, Jiajia Yu, Huifang Huang, Jinfang Shi, Dong Zheng, Jun Qiu

To evaluate cystatin C (CysC) and estimation of glomerular filtration rate (GFR) calculated using the formula, CKD-EPI-CysC (eGFRCKD-EPI-CysC) for renal impairment diagnosis and predicting the prognosis of patients with multiple myeloma (MM). One hundred-fourteen patients with MM and 38 healthy individuals were recruited for the study. Data on clinical characteristics and renal function-related biochemical indicators were collected and analyzed. Patients with MM had increased levels of CysC (1.25 (0.97-2.31) vs. 0.84 (0.80-0.92), respectively, p < 0.001) and decreased levels of eGFRCKD-EPI-CysC (53.0 (24.4-81.1) vs. 97.2 (87.0-104.5), respectively, p < 0.001), compared with healthy individuals. There were significantly more patients with elevated CysC levels than with elevated sCr levels (64.9% vs. 41.2%, respectively, p < 0.001). The CKD-EPI-CysC formula detected more patients with eGFR < 60 ml/(min × 1.73 m2) than the CKD-EPI-sCr formula (52.63% vs. 37.72%, respectively, p < 0.001). Correlation analysis found that only CysC, eGFRCKD-EPI-CysC, and eGFRCKD-EPI-sCr-CysC strongly correlated with β2-microglobulin in group ISS-I. Logistic regression analysis was used to screen CysC (OR = 1.495, 95% CI = 1.097-2.038, p = 0.011) and eGFRCKD-EPI-CysC (OR = 0.980, 95% CI = 0.967-0.993, p = 0.003) as independent prognostic indicators for 2-year-progression-free survival (PFS) of patients with MM. Receiver operating characteristic curve analysis found that CysC values >1.70 mg/L had 67.6% sensitivity and 65.2% specificity and eGFRCKD-EPI-CysC values <38.62 ml/(min × 1.73 m2) had 65.2% sensitivity and 67.6% specificity for 2-year PFS of patients with MM. In summary, CysC and eGFRCKD-EPI-CysC were more sensitive than sCr and eGFRCKD-EPI-sCr for predicting renal impairment in patients newly diagnosed with MM. Increased CysC and decreased eGFRCKD-EPI-CysC levels were effective predictors of 2-year PFS of patients with MM.

目的:评估胱抑素C(CysC)和使用CKD-EPI-CysC(eGFRCKD-EPI-CysC)公式计算的肾小球滤过率(GFR)估算值,用于多发性骨髓瘤(MM)患者的肾功能损害诊断和预后预测。研究共招募了 14 名 MM 患者和 38 名健康人。研究收集并分析了临床特征和肾功能相关生化指标的数据。MM患者的CysC(1.25 (0.97-2.31) vs. 0.84 (0.80-0.92), p CKD-EPI-CysC(53.0 (24.4-81.1) vs. 97.2 (87.0-104.5),分别 p p 2)比 CKD-EPI-sCr 公式(52.63% vs. 37.72%,分别 p CKD-EPI-CysC,eGFRCKD-EPI-sCr-CysC 与 ISS-I 组的β2-微球蛋白密切相关。利用逻辑回归分析筛选出 CysC(OR = 1.495,95% CI = 1.097-2.038,p = 0.011)和 eGFRCKD-EPI-CysC(OR = 0.980,95% CI = 0.967-0.993,p = 0.003)作为 MM 患者 2 年无进展生存期(PFS)的独立预后指标。接收者操作特征曲线分析发现,CysC值>1.70 mg/L对MM患者2年无进展生存期的敏感性为67.6%,特异性为65.2%;eGFRCKD-EPI-CysC值2)对MM患者2年无进展生存期的敏感性为65.2%,特异性为67.6%。总之,CysC 和 eGFRCKD-EPI-CysC 比 sCr 和 eGFRCKD-EPI-sCr 对预测新诊断为 MM 患者的肾功能损害更敏感。CysC水平升高和eGFRCKD-EPI-CysC水平降低可有效预测MM患者的2年PFS。
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引用次数: 0
Dysmagnesemia as a predictor of developing diabetic levels of hemoglobin A1c. 作为糖尿病血红蛋白 A1c 发展水平预测因子的镁异常血症。
IF 1.3 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2023-12-01 Epub Date: 2024-01-24 DOI: 10.1080/00365513.2024.2303707
Solav Aziz Ali, Anna Elise Engell, Bent Struer Lind, Henrik Løvendahl Jørgensen

The aim of this study was to assess the possible association between P-Mg and subsequent high levels of HbA1c. The study involves data from primary health care patients and data from patients treated in hospitals located in the capital region of Denmark. P-Mg and HbA1c levels were analyzed from 121,575 patients in the period 2010-2022. Patients were categorized in a diabetic and non-diabetic group. Out of 121,575 patients, 8,532 were categorized as diabetic. A reverse J-shaped association between P-Mg and HbA1c levels ≥ 48 mmol/mol was observed with nadir at P-Mg of 0.90 mmol/L. The unadjusted hazard ratio (HR) for having a first HbA1c measurement ≥ 48 mmol/mol is 1.54 (95% Cl 1.50; 1.57) per 0.1 mmol/L decrease in P-Mg when P-Mg is lower than 0.90 mmol/L. After adjusting for age and gender, the HR remained significant at 1.45 (95% Cl 1.41; 1.48).For P-Mg levels above 0.90 mmol/L, the unadjusted HR per 0.1 mmol/L increase in P-Mg was 1.04 (95% Cl 1.02; 1.06). After adjusting for age and gender the HR remained significant at 1.06 (95% Cl 1.05; 1.08). In conclusion, this study found that patients with dysmagnesemia have a higher risk of developing diabetes even after adjusting for age and gender. Hyper- or hypomagnesemia in patients could be a biomarker for predicting the risk of developing diabetes.

这项研究的目的是评估 P-Mg 与随后的高 HbA1c 之间可能存在的关联。研究涉及初级医疗保健患者的数据和在丹麦首都地区医院接受治疗的患者的数据。研究分析了 2010-2022 年间 121,575 名患者的 P-Mg 和 HbA1c 水平。患者被分为糖尿病组和非糖尿病组。在121,575名患者中,有8,532人被归类为糖尿病患者。P-Mg 与 HbA1c 水平≥ 48 mmol/mol 之间呈反向 J 型关系,P-Mg 为 0.90 mmol/L 时为最低点。当 P-Mg 低于 0.90 mmol/L 时,P-Mg 每下降 0.1 mmol/L,首次 HbA1c 测量值≥ 48 mmol/mol 的未调整危险比(HR)为 1.54(95% Cl 1.50;1.57)。当 P-Mg 水平高于 0.90 mmol/L 时,P-Mg 每增加 0.1 mmol/L 的未调整 HR 为 1.04 (95% Cl 1.02; 1.06)。根据年龄和性别进行调整后,HR 仍为 1.06(95% Cl 1.05;1.08)。总之,本研究发现,即使对年龄和性别进行了调整,镁血症患者患糖尿病的风险仍然较高。患者的高镁或低镁血症可能是预测糖尿病发病风险的生物标志物。
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引用次数: 0
Quantifying plasma dacarbazine levels in advanced melanoma patients: a liquid chromatography-tandem mass spectrometry performance analysis. 晚期黑色素瘤患者血浆达卡巴嗪水平的定量分析:液相色谱-串联质谱性能分析。
IF 1.3 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2023-12-01 Epub Date: 2024-01-24 DOI: 10.1080/00365513.2023.2297356
Wenhan Cheng, John Liu, Bryan Jackson

The aim of this study was to develop a robust liquid chromatography-tandem mass spectrometry (LC-MS/MS) method for quantifying dacarbazine levels in the plasma of advanced melanoma patients, followed by an assessment of its analytical capabilities. The research encompassed the design of a high-performance liquid chromatography (HPLC) system, with the quantitative analysis performed using the multiple reaction monitoring (MRM) techniques and specific ion transition: 181.0 > 152.5 for dacarbazine and 187.1 > 158.6 for the internal standard (IS), dacarbazine-D6. The validation of the method involved an evaluation of parameters including linearity, detection limit, precision, and accuracy. Notably, the linear range extended from 10 to 1,000 µg/L for dacarbazine, and the method exhibited a detection limit of 10 µg/L. The method's precision, indicated by within-run and between-run coefficients of variation (CV), both being ≤4.2% and ≤8.3%, respectively. Furthermore, the accuracy of measurements, ranging from 86.1% to 99.4%, underscored the method's reliability. In clinical application, the dacarbazine levels of healthy control (n = 20) were 0.6 ± 0.02 μg/L; 770.9 ± 203.2 μg/mL in early-stage-melanoma patients (n = 22), and 588.7 ± 153.2 μg/mL in advanced melanoma patients (n = 25). The results serve as clinical evidence showing that long-term dacarbazine treatment affects the metabolism of dacarbazine.

本研究旨在开发一种稳健的液相色谱-串联质谱(LC-MS/MS)方法,用于定量检测晚期黑色素瘤患者血浆中达卡巴嗪的水平,并对其分析能力进行评估。这项研究包括设计一个高效液相色谱(HPLC)系统,利用多反应监测(MRM)技术和特定离子转换进行定量分析:达卡巴嗪的离子转换率为 181.0 > 152.5,内标(IS)达卡巴嗪-D6 的离子转换率为 187.1 > 158.6。该方法的验证包括对线性、检测限、精密度和准确度等参数的评估。值得注意的是,达卡巴嗪的线性范围为 10 至 1,000 µg/L,方法的检测限为 10 µg/L。该方法的精密度(以运行内变异系数和运行间变异系数表示)分别为≤4.2%和≤8.3%。此外,测量的准确度从 86.1%到 99.4%不等,突出了该方法的可靠性。在临床应用中,健康对照组(20 人)的达卡巴嗪水平为 0.6 ± 0.02 μg/L;早期黑色素瘤患者(22 人)的达卡巴嗪水平为 770.9 ± 203.2 μg/mL;晚期黑色素瘤患者(25 人)的达卡巴嗪水平为 588.7 ± 153.2 μg/mL。这些结果作为临床证据表明,长期达卡巴嗪治疗会影响达卡巴嗪的代谢。
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引用次数: 0
Correction. 更正。
IF 1.3 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2023-12-01 Epub Date: 2024-01-24 DOI: 10.1080/00365513.2023.2299904
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引用次数: 0
Vitamin B12 insufficiency and deficiency: a review of nondisease risk factors. 维生素 B12 不足和缺乏:非疾病风险因素综述。
IF 1.3 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2023-12-01 Epub Date: 2024-01-24 DOI: 10.1080/00365513.2023.2297357
Omar Abuyaman, Ali Abdelfattah, Faten Shehadeh-Tout, Ahmad A Deeb, Ma'mon M Hatmal

Vitamin B12 deficiency and insufficiency can lead to both hematological and neurological impairments. This review examines nondisease causes and risk factors associated with dietary availability, such as eating habits, food processing, cooking techniques, and bioavailability, as well as increased physiological needs and iatrogenic factors linked to medication use or surgical procedures. As a result of these nondisease influences, groups at higher risk include vegans, vegetarians, older adults, individuals with limited diets, breastfed and preterm infants, and those who primarily consume foods prepared or cooked in ways that reduce vitamin B12 content, as well as individuals on certain medications or who have undergone specific surgeries. Recognizing these diverse risk factors helps develop strategies for prevention and intervention to minimize the adverse health effects related to B12 deficiency and insufficiency.

维生素 B12 缺乏和不足可导致血液和神经系统损伤。本综述探讨了与饮食相关的非疾病原因和风险因素,如饮食习惯、食品加工、烹饪技术和生物利用率,以及与用药或外科手术相关的生理需求增加和先天性因素。由于这些非疾病因素的影响,风险较高的人群包括素食主义者、素食者、老年人、膳食有限的人、母乳喂养的婴儿和早产儿、主要食用以降低维生素 B12 含量的方式烹饪的食物的人,以及服用某些药物或接受过特定手术的人。认识到这些不同的风险因素有助于制定预防和干预策略,最大限度地减少与 B12 缺乏和不足有关的不良健康影响。
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引用次数: 0
The free cortisol calculated: correlation with the free cortisol concentrations measured with liquid chromatography-tandem mass spectrometry after equilibrium dialysis and establishment of reference intervals. 计算游离皮质醇:平衡透析和建立参考区间后,用液相色谱-串联质谱法测定游离皮质醇浓度的相关性。
IF 1.3 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2023-11-01 Epub Date: 2023-09-13 DOI: 10.1080/00365513.2023.2256671
Fleur Wolff, Ken Geivaerts, Elise Mathieu, Cécile Duterme, Guillaume Deprez, David Fage, Frédéric Cotton

Background: Changes in cortisol binding globulin (CBG) impact the total serum cortisol concentration and affect the accurate assessment of adrenal function. Free biologically cortisol can be calculated using different equations or directly measured after complicated procedures.

Methods: The free cortisol index (FCI) obtained using the Bonte formula as well as the free cortisol concentration calculated (Coolens equation) were first estimated for 45 healthy workers. The CBG level was determined by a competitive radioimmunoassay and the total cortisol concentration, was measured with an electrochemiluminescent assay. The correlations between FCI, the free cortisol concentrations calculated and the free cortisol levels measured with liquid chromatography-tandem mass spectrometry after equilibrium dialysis were studied for those 45 samples. Reference limits were established on 158 healthy hospital workers and patients with serum samples collected between 7:30 am and 10 am.

Results: The FCI as well as the free cortisol concentrations calculated obtained for the 45 samples correlated significantly with the free cortisol levels measured. Although the cortisol and CBG levels were statistically higher in women using contraceptives compared with women not taking them as well as men, the calculated FCI and free cortisol concentrations did not differ between these groups. The medians (P2.5-P97.5) obtained for the 158 healthy workers were respectively 26.4% (12.3-51.6%) and 10.6 nmol/L (4.3-26.7 nmol/L).

Conclusions: This study highlighted a significant correlation between the FCI, the free cortisol concentrations calculated and the free cortisol levels measured with LC-MS/MS, it has also allowed the establishment of reference intervals for calculated FCI and free cortisol.

背景:皮质醇结合球蛋白(CBG)的变化影响血清总皮质醇浓度,影响肾上腺功能的准确评估。游离的生物皮质醇可以用不同的方程式计算,也可以经过复杂的程序直接测量。方法:首先对45名健康工人进行Bonte公式计算的游离皮质醇指数(FCI)和Coolens方程计算的游离皮质醇浓度进行估计。CBG水平用竞争放射免疫法测定,总皮质醇浓度用电化学发光法测定。研究了平衡透析后45个样品的FCI、计算的游离皮质醇浓度和液相色谱-串联质谱法测定的游离皮质醇水平之间的相关性。对158名健康医院工作人员和患者在上午7:30至10点间采集血清样本建立参考限量。结果:45个样本的FCI以及计算得到的游离皮质醇浓度与测量的游离皮质醇水平显著相关。虽然使用避孕药的女性的皮质醇和CBG水平在统计学上高于不使用避孕药的女性和男性,但计算的FCI和游离皮质醇浓度在这两组之间没有差异。158名健康工人的中位数(p2.5 ~ p97.5)分别为26.4%(12.3 ~ 51.6%)和10.6 nmol/L (4.3 ~ 26.7 nmol/L)。结论:本研究强调了FCI、计算的游离皮质醇浓度和LC-MS/MS测量的游离皮质醇水平之间的显著相关性,并允许建立计算的FCI和游离皮质醇的参考区间。
{"title":"The free cortisol calculated: correlation with the free cortisol concentrations measured with liquid chromatography-tandem mass spectrometry after equilibrium dialysis and establishment of reference intervals.","authors":"Fleur Wolff, Ken Geivaerts, Elise Mathieu, Cécile Duterme, Guillaume Deprez, David Fage, Frédéric Cotton","doi":"10.1080/00365513.2023.2256671","DOIUrl":"10.1080/00365513.2023.2256671","url":null,"abstract":"<p><strong>Background: </strong>Changes in cortisol binding globulin (CBG) impact the total serum cortisol concentration and affect the accurate assessment of adrenal function. Free biologically cortisol can be calculated using different equations or directly measured after complicated procedures.</p><p><strong>Methods: </strong>The free cortisol index (FCI) obtained using the Bonte formula as well as the free cortisol concentration calculated (Coolens equation) were first estimated for 45 healthy workers. The CBG level was determined by a competitive radioimmunoassay and the total cortisol concentration, was measured with an electrochemiluminescent assay. The correlations between FCI, the free cortisol concentrations calculated and the free cortisol levels measured with liquid chromatography-tandem mass spectrometry after equilibrium dialysis were studied for those 45 samples. Reference limits were established on 158 healthy hospital workers and patients with serum samples collected between 7:30 am and 10 am.</p><p><strong>Results: </strong>The FCI as well as the free cortisol concentrations calculated obtained for the 45 samples correlated significantly with the free cortisol levels measured. Although the cortisol and CBG levels were statistically higher in women using contraceptives compared with women not taking them as well as men, the calculated FCI and free cortisol concentrations did not differ between these groups. The medians (P2.5-P97.5) obtained for the 158 healthy workers were respectively 26.4% (12.3-51.6%) and 10.6 nmol/L (4.3-26.7 nmol/L).</p><p><strong>Conclusions: </strong>This study highlighted a significant correlation between the FCI, the free cortisol concentrations calculated and the free cortisol levels measured with LC-MS/MS, it has also allowed the establishment of reference intervals for calculated FCI and free cortisol.</p>","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":" ","pages":"460-466"},"PeriodicalIF":1.3,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10227881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
White matter hyperintensities combined with serum NLRP3 in diagnosis of cognitive impairment in patients with cerebral small vessel disease. 白质高信号联合血清NLRP3对脑血管病患者认知功能障碍的诊断价值
IF 1.3 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2023-11-01 Epub Date: 2023-09-13 DOI: 10.1080/00365513.2023.2255974
Ronghui Huang, Lin Zhang, Limeng Deng, Can Chen

Background: White matter hyperintensities (WMH) are widely used for the diagnosis of cerebral small vessel disease (CSVD). However, whether NLRP3 is correlated with cognitive impairment after CSVD is still not clear.Objective: This study aimed to investigate the diagnostic value of WMHs combined with NLRP3 for cognitive impairment after CSVD.Methods: This prospective observational study enrolled a total of 188 CSVD patients from September 2019 to May 2022. All patients received brain MRI assessment and WMH Fazekas score, as well as WMH volume, was recorded. Serum NLRP3 level was measured by ELISA. Patients' cognitive function was measured by MoCA after 6 months of diagnosis of CSVD. The serum levels of C reactive protein (CRP), interleukin (IL)-6, total cholesterol (TC), triglyceride (TG), high-density leptin cholesterol (HDL) and low-density leptin cholesterol (LDL) were recordedResults: CSVD patients with cognitive impairment had significantly higher Fazekas scores, WMH volumes, serum NLRP3 and IL-6 levels compared to patients without cognitive impairment. A positive correlation was found among Fazekas scores, WMH volumes and NLRP3 levels. The combination of WMH volume and NLRP3 could achieve a better specificity for the diagnosis of cognitive impairment. Coronary syndrome history, WMH volume and NLRP3 were found as independent risk factors for cognitive impairment after CSVD.Conclusion: Fazekas scores, WMH volume and serum NLRP3 levels are associated with cognitive impairment after CSVD and have the potential to be used as diagnostic biomarkers.

背景:白质高信号(WMH)被广泛用于脑小血管疾病(CSVD)的诊断。然而,NLRP3是否与CSVD后认知障碍相关尚不清楚。目的:探讨WMHs联合NLRP3对CSVD后认知功能障碍的诊断价值。方法:这项前瞻性观察性研究于2019年9月至2022年5月共纳入188例CSVD患者。所有患者均接受脑MRI评估,并记录WMH Fazekas评分和WMH体积。ELISA法检测血清NLRP3水平。诊断CSVD 6个月后,用MoCA测定患者的认知功能。记录血清C反应蛋白(CRP)、白细胞介素(IL)-6、总胆固醇(TC)、甘油三酯(TG)、高密度瘦素胆固醇(HDL)和低密度瘦素胆固醇(LDL)水平。结果:认知功能障碍CSVD患者Fazekas评分、WMH体积、血清NLRP3和IL-6水平显著高于无认知功能障碍患者。Fazekas评分与WMH体积、NLRP3水平呈正相关。结合WMH体积和NLRP3对认知功能障碍的诊断具有更好的特异性。冠状动脉综合征史、WMH体积和NLRP3是CSVD后认知功能障碍的独立危险因素。结论:Fazekas评分、WMH体积和血清NLRP3水平与CSVD后认知功能障碍相关,具有作为诊断性生物标志物的潜力。
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引用次数: 0
Direct cord blood LAMP colorimetric phenol red assay for detecting α0-thalassemia (SEA deletion); the validation and post-natal screening in Thailand. 直接脐血LAMP比色酚红法检测α0-地中海贫血(SEA缺失);泰国的验证和产后筛查。
IF 1.3 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2023-11-01 Epub Date: 2023-11-30 DOI: 10.1080/00365513.2023.2278519
Rossarin Karnpean, Amarin Narkwichean, Wipada Laosooksathit, Prapaporn Panichchob, Wittaya Jomoui

Post-natal or newborn screening for thalassemia and hemoglobinopathies is useful for genetic counseling and managing thalassemia in children. We characterized thalassemia genotypes in newborns from the eastern part of Thailand. The results demonstrated a high heterogeneity of thalassemia and hemoglobinopathies with seventeen genotypes. We focused on α0- thalassemia (Southeast Asian [SEA] deletion) in this study. We developed and validated the loop-mediated isothermal amplification (LAMP) colorimetric assay for detecting α0- thalassemia (SEA deletion) using simple direct cord blood sampling compared to genomic DNA. A total of 160 cord blood samples were evaluated with the LAMP assay. The sensitivity and specificity of the LAMP colorimetric assay for α0-thalassemia (SEA deletion) using direct cord blood showed 100% (6/6 x 100) and 98.05% (151/154 x 100) whereas, genomic DNA showed 100% (6/6 x 100) and 100% (154/154 x 100), respectively. Moreover, we demonstrated other simple screening tools for α0-thalassemia with %Hb Bart's, MCV, and MCH values and found that these parameters were not diagnostic in our samples. The direct cord blood with colorimetric LAMP assay is simple, rapid, and does not require a post-LAMP step compared to conventional PCR. These techniques could be applied in post-natal or large population screening for α0-thalassemia (SEA deletion). Finally, this could support early prevention of complications, early management, genetic counseling for α-thalassemia disease in children, or a long-term prevention and control program of severe thalassemia in Thailand.

地中海贫血和血红蛋白病的产后或新生儿筛查有助于儿童遗传咨询和管理地中海贫血。我们对泰国东部新生儿地中海贫血的基因型进行了表征。结果表明,地中海贫血和血红蛋白病具有17种基因型的高度异质性。在这项研究中,我们重点关注α0-地中海贫血(东南亚[SEA]缺失)。我们开发并验证了环介导的等温扩增(LAMP)比色分析法,用于检测α0-地中海贫血(SEA缺失),使用简单的直接脐血取样与基因组DNA进行比较。共160 脐带血样品用LAMP测定法进行评价。直接脐血LAMP比色法检测α0-地中海贫血(SEA缺失)的敏感性和特异性分别为100%(6/6 x 100)和98.05%(151/154 x 100),而基因组DNA分别为100%和100%(6/6x 100)。此外,我们展示了其他简单的α0-地中海贫血筛查工具,包括%Hb Bart、MCV和MCH值,并发现这些参数在我们的样本中不能诊断。与传统PCR相比,LAMP比色法直接测定脐血简单、快速,不需要LAMP后步骤。这些技术可用于产后或大规模筛查α0-地中海贫血(SEA缺失)。最后,这可以支持早期预防并发症、早期管理、儿童α-地中海贫血的基因咨询,或泰国的严重地中海贫血的长期预防和控制计划。
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引用次数: 0
The LEAP checklist for Laboratory Evaluation and Analytical Performance Characteristics reporting of clinical measurement procedures. 临床测量程序的实验室评估和分析性能特征报告LEAP检查表。
IF 1.3 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2023-11-01 Epub Date: 2023-11-30 DOI: 10.1080/00365513.2023.2261098
Tze Ping Loh, Brian R Cooke, Thi Chi Mai Tran, Corey Markus, Rosita Zakaria, Chung Shun Ho, Elvar Theodorsson, Ronda F Greaves

Reporting a measurement procedure and its analytical performance following method evaluation in a peer-reviewed journal is an important means for clinical laboratory practitioners to share their findings. It also represents an important source of evidence base to help others make informed decisions about their practice. At present, there are significant variations in the information reported in laboratory medicine journal publications describing the analytical performance of measurement procedures. These variations also challenge authors, readers, reviewers, and editors in deciding the quality of a submitted manuscript.The International Federation of Clinical Chemistry and Laboratory Medicine Working Group on Method Evaluation Protocols (IFCC WG-MEP) developed a checklist and recommends its adoption to enable a consistent approach to reporting method evaluation and analytical performance characteristics of measurement procedures in laboratory medicine journals. It is envisioned that the LEAP checklist will improve the standardisation of journal publications describing method evaluation and analytical performance characteristics, improving the quality of the evidence base that is relied upon by practitioners.

在同行评审期刊上报告方法评估后的测量程序及其分析性能是临床实验室从业者分享他们的发现的重要手段。它也是一个重要的证据基础来源,可以帮助其他人对自己的做法做出明智的决定。目前,实验室医学期刊出版物中描述测量程序分析性能的信息存在显著差异。这些变化也对作者、读者、审稿人和编辑在决定提交稿件的质量方面提出了挑战。国际临床化学和实验医学联合会方法评估协议工作组(IFCC WG-MEP)制定了一份检查表,并建议采用该检查表,以便在实验医学期刊上报告方法评估和测量程序的分析性能特征。据设想,LEAP检查表将提高描述方法评估和分析性能特征的期刊出版物的标准化,提高从业者所依赖的证据库的质量。
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引用次数: 0
Subclinical hypothyroidism in pregnancy - assessment of offspring thyroid status and mitochondrial robustness to stress. 妊娠期亚临床甲状腺功能减退症——后代甲状腺状况和线粒体对压力的稳健性评估。
IF 1.3 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2023-11-01 Epub Date: 2023-11-30 DOI: 10.1080/00365513.2023.2253726
Julie Kristine Guldberg Stryhn, Jacob Larsen, Palle Lyngsie Pedersen, Peter Haulund Gæde

Subclinical hypothyroidism's clinical implications on pregnancy are controversial. Consequently, thyrotropin (TSH) cutoff-values for pregnancy are continuously a subject for debate. In subclinical hypothyroidism, altered levels of thyroid hormones may affect mitochondrial function.Objectives were i) to analyze thyroid hormone levels in offspring of women with and without subclinical hypothyroidism ii) to analyze mitochondrial "robustness" in terms of MTG/TMRM ratio in pregnant women and their offspring in relation to thyroid function and iii) to perform differentiate analyses on different TSH thresholds to determine the importance of cutoff-values to results.Pregnant women were included by blood collections prior to a planned cesarean section, and cord samples were collected after delivery. Thyroid status (analyzed by Siemens Healthcare Diagnostics by an electrochemical luminescent immunoassay based on LOCI-technology) grouped the women and their offspring in euthyroid or subclinical hypothyroid, with groups established from previous recommended third-trimester cutoff-value (TSH > 3.0 mIU/L) and the recently recommended cutoff-value in Denmark (TSH > 3.7 mIU/L). Flow cytometric measurements of mitochondrial function in mononuclear blood cells with the fluorophores TetraMethylRhodamine Methyl Ester (TMRM) and Mitotracker Green (MTG) were used to evaluate mitochondrial robustness as the MTG/TMRM ratio.No significant differences in mitochondrial robustness between euthyroid and subclinical hypothyroid cohorts were observed, irrespective of TSH-cutoff applied. Maternal and cord MTG/TMRM ratios were positively correlated. Cord-TSH was elevated in subclinical hypothyroid offspring, independent of TSH cutoff applied. Cord-TSH was associated with maternal TSH-level, maternal smoking and cord arterial-pH.

亚临床甲状腺功能减退症对妊娠的临床影响是有争议的。因此,妊娠期促甲状腺激素(TSH)的临界值一直是争论的主题。在亚临床甲状腺功能减退症中,甲状腺激素水平的改变可能会影响线粒体功能。目的是i)分析患有和不患有亚临床甲状腺功能减退症的妇女后代的甲状腺激素水平;ii)分析孕妇及其后代MTG/TMRM比率与甲状腺功能的线粒体“稳健性”;iii)对不同TSH阈值进行区分分析,以确定临界值对结果的重要性。孕妇在计划剖宫产前进行血液采集,分娩后采集脐带样本。甲状腺状况(由Siemens Healthcare Diagnostics通过基于LOCI技术的电化学发光免疫分析进行分析)将女性及其后代分为甲状腺功能正常或亚临床甲状腺功能减退,根据之前推荐的妊娠晚期临界值(TSH>3.0 mIU/L)和丹麦最近推荐的临界值(TSH>3.7 mIU/L。使用荧光团四甲基罗丹明甲酯(TMRM)和Mitotracker Green(MTG)对单核血细胞中线粒体功能的流式细胞术测量,以MTG/TMRM比率评估线粒体稳健性。无论TSH截断值如何,甲状腺功能正常和亚临床甲状腺功能减退患者的线粒体稳健性均未观察到显著差异。母体和脐带MTG/TMRM比值呈正相关。亚临床甲状腺功能减退的后代脐带TSH升高,与TSH截断值无关。脐带TSH与母体TSH水平、母体吸烟和脐带动脉pH有关。
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Scandinavian Journal of Clinical & Laboratory Investigation
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