A novel homozygous c.301T > C, p.Y101H variant in the GNA11 gene is implicated in familial hypocalciuric hypercalcemia type 2 in a proband with the heterozygous variant present in mother and father - A case report [0.03%]
GNA11基因纯合子c.301T > C，p.Y101H变异体与家族性低钙血症性高钙血症有关——病例报告
Serkan Bilge Koca,Burhan Balta
Serkan Bilge Koca
Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogeneous autosomal dominant disorder of calcium homeostasis, which is usually asymptomatic and characterized by low or normal phosphorus, inappropriately normal or elevated PT...
Exploring the link between selective glomerular filtration and intima media thickness [0.03%]
探究选择性肾小球滤过与内膜中层厚度之间的联系
Ronja Lundbergs,Nora Bimer Annell,Cecilia Kennbäck et al.
Ronja Lundbergs et al.
Early kidney function decline may be associated with reduced filtration of middle-sized molecules, currently defined as selective glomerular hypofiltration syndrome (SGHS), and driven by the accumulation of atherosclerosis-promoting protein...
Testing MMA100 - the eGFR-adjusted concentration of methylmalonic acid in plasma [0.03%]
MMA100检测在血液中的代谢标志物甲基丙二酸中的应用测试研究论文phemometers
Arne Åsberg,Ingrid Alsos Lian,Gustav Mikkelsen et al.
Arne Åsberg et al.
The concentration of methylmalonic acid (MMA) in plasma increases in patients with cobalamin deficiency (CD). Independent of the cobalamin status, MMA also increases with decreasing glomerular filtration rate (GFR). Therefore, the physician...
Mitigating electrolyte measurement discrepancies in high triglycerides samples: a comparative analysis of direct and indirect ISE for sodium, potassium and chloride measurements [0.03%]
高甘油三酯标本中电解质测定不一致的改善：钠、钾和氯直接与间接离子选择电极测定比较分析
Yulan Hou,Junqun Liao,Zhixue Wang et al.
Yulan Hou et al.
Elevated triglyceride (TG) levels, common in hypertriglyceridemia, can significantly interfere with electrolyte analysis, particularly by the indirect ion-selective electrode (ISE) method. However, comprehensive data on the concentration-de...
Screening the nutritional risk in critically ill patients: development and validation of a new nutritional-inflammatory prognostic score (NIPS) to predict short-term mortality [0.03%]
重症患者营养风险筛查：建立并验证短期预后新指标(NIPS)
Salam Bennouar,Abdelghani Bachir-Cherif,Fella-Amina Marfoua et al.
Salam Bennouar et al.
In intensive care units (ICU), malnutrition is very common and closely related to severe inflam-matory states. The aim of this study was to develop and validate a nutritional inflammatory prognostic score (NIPS) predictive of short-term mor...
Comparative evaluation of diagnostic and analytical performance of DIRUI FUS-200 and MUS-3600 fully automated urine analyzers [0.03%]
迪瑞FUS-200和MUS-3600全自动尿液分析仪诊断及性能评估研究
Berrin Oztas,Fatih Hunc,Berna Yildirim Şik et al.
Berrin Oztas et al.
The aim was to assess and compare the analytical performance of the FUS-200 and its new upgrade, the MUS-3600 urine autoanalyzers, and to compare performance with manual microscopy. First morning, void urine samples were randomly collected,...
Circulating microRNA-222 and microRNA-146b: a potential differentiating tool between benign and malignant thyroid nodules [0.03%]
循环miRNA-222和miRNA-146b：区分甲状腺良性结节与恶性结节的潜在工具
Ramy Samir Assaad,Wafaa Saad Ragab,Rania El Tayfi et al.
Ramy Samir Assaad et al.
Background: Thyroid nodules are common, and the majority are of benign nature, however the main clinical aim remains to discriminate malignant ones. Despite that, the actual routine workup for thyroid nodules including ho...
Selection of stable reference genes for qPCR-based analysis of circulating cell-free DNA levels in peripheral blood of neuroblastoma patients [0.03%]
神经母细胞瘤患者外周血循环细胞游离DNA水平qPCR分析稳定参考基因的选择
Yan Lei,Zhen Yang,Yuantao Zhou et al.
Yan Lei et al.
As neuroblastoma is a highly heterogeneous pediatric solid tumor, it is essential to select appropriate reference genes to compare the concentration of circulating free DNA (cfDNA) between patients with neuroblastoma and healthy individuals...
Resolving falsely elevated vancomycin levels in KIMS immunoassay due to monoclonal IgM interference [0.03%]
基于免疫测定的万古霉素假性升高的原因是单克隆IgM干扰所致及其对策
Go Eun Bae,Sang-Mi Kim,Hae-Il Park et al.
Go Eun Bae et al.
Given its narrow therapeutic index and risk of nephrotoxicity, vancomycin requires accurate concentration monitoring. While immunoassays such as the Kinetic Interaction of Microparticles in Solution (KIMS) are widely used for their speed an...
Gestational age-specific reference intervals for placental growth factor and its application in singleton and twin pregnancies: a population-based cohort study [0.03%]
基于胎龄的胎盘生长因子孕产妇参考区间及在单胎和双胎妊娠中的应用研究：队列研究
Kaiqi Wu,Shaomin Zhou,Yongying Bai et al.
Kaiqi Wu et al.
Placental growth factor (PLGF) dynamics exhibit significant variations between singleton and twin pregnancies, necessitating distinct clinical reference intervals. This large study established and validated trimester-specific reference inte...