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A new approach to the interpretation of B-type natriuretic peptide concentration in children with congenital heart disease 先天性心脏病患儿b型利钠肽浓度的新方法
Q4 OTORHINOLARYNGOLOGY Pub Date : 2023-05-31 DOI: 10.1515/labmed-2022-0150
Andrei A. Svobodov, A. A. Kupryashov, Tatayna K. Dobroserdova, E. Levchenko, M. Tumanyan, Aleksei G. Anderson
Abstract Objectives BNP is the unique cardiac marker that reflects not as much as the degree of heart muscle damage, but mostly the severity of hemodynamic disorder, which is important in congenital heart disease. The only disadvantage of this marker is the barely studied reference values for children. It is known that the younger the child is, the higher the BNP value will be. By shifting from interpreting the absolute values towards the application of zlog-transformed data in clinical practice, we can overcome the above problems. Methods We performed an age-adjusted zlog transformation of BNP concentration. The age dependence was accounted for by a piecewise linear interpolation of the logarithms of BNP concentration among healthy children in different age groups from the logarithms of age. Results The concentration of BNP was measured in 351 patients (under 1 year old) with various heart diseases. The median age at the time of testing was 52 days [10; 166]; the median weight was 4.1 kg [3.2; 6.2]. The conditions we investigated included almost all known congenital heart diseases, as well as primary cardiac tumors. After the zlog transformation, we eliminated age-dependence, which was proved by comparing BNP concentrations in two groups of patients with univentricular and biventricular hemodynamics. Conclusions BNP in patients with congenital heart disease reflects the severity of hemodynamic disorders, and zlogBNP is an objective, age-independent and clear mechanism that can be used to interpret this cardiac marker.
BNP是一种独特的心脏标志物,不仅能反映心肌损伤的程度,还能反映血流动力学障碍的严重程度,这在先天性心脏病中很重要。这个标记唯一的缺点是对儿童的参考值几乎没有研究。已知儿童年龄越小,BNP值越高。从对绝对值的解释转向对经zlog变换后的数据在临床实践中的应用,可以克服上述问题。方法对BNP浓度进行年龄调整后的zlog变换。不同年龄组健康儿童BNP浓度的对数与年龄对数的分段线性插值解释了年龄依赖性。结果对351例年龄在1岁以下 的心脏病患者进行了BNP浓度测定。检测时的中位年龄为52 天[10;166);中位体重为4.1 kg [3.2;6.2]。我们调查的情况包括几乎所有已知的先天性心脏病,以及原发性心脏肿瘤。zlog转换后,我们消除了年龄依赖性,通过比较两组单室和双室血流动力学患者的BNP浓度证明了这一点。结论先天性心脏病患者的BNP反映了血流动力学障碍的严重程度,zlogBNP是一个客观的、与年龄无关的、明确的机制,可以用来解释这一心脏标志物。
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引用次数: 0
Digital competence in laboratory medicine 检验医学的数字化能力
Q4 OTORHINOLARYNGOLOGY Pub Date : 2023-04-19 DOI: 10.1515/labmed-2023-0021
Jakob Adler, M. Lenski, A. Tolios, S. Taie, Miron Sopić, D. Rajdl, A. Rampul, G. Sancesario, R. Biemann
Abstract Objectives Even though most physicians and professionals in laboratory medicine have received basic training in statistics, experience shows that a general understanding of data analysis is not yet available on a broad scale. Therefore, data literacy, data-driven decision making, and computational thinking should be implemented in future educational training. To evaluate the state of digital competence among young scientists (YS) in laboratory medicine, we launched a worldwide online survey. Methods A global online survey was conducted from 25/05/2022 to 26/06/2022 and was disseminated to YS who are listed in three large networks: YS of the DGKL, the EFLM Task Group-YS, and IFCC Task Force-YS and its corresponding members, covering a base of 53 countries. Results 119 young scientists from 40 countries participated in this survey. 80 % did not learn digital skills in their academic education but 96 % felt they needed to. Digital literacy was associated with terms such as programming, artificial intelligence and machine learning, statistics, communication, Big Data and data analytics. Conclusions The results of our survey show that more knowledge and training in the area of digital skills is not just necessary, but also wanted by young scientists. A varied learning environment consisting of tutorial articles, videos, exercises, technical articles, collection of helpful links, online meetings and in person bootcamps is crucial to meet the challenges of an international project with different languages, health systems and time zones.
尽管大多数检验医学的医生和专业人员都接受过统计学的基本培训,但经验表明,对数据分析的一般理解尚未在广泛的范围内实现。因此,数据素养、数据驱动决策和计算思维应该在未来的教育培训中实施。为了评估检验医学领域年轻科学家(YS)的数字能力状况,我们发起了一项全球在线调查。方法从2022年5月25日至2022年6月26日进行了一项全球在线调查,并向DGKL的YS, EFLM任务组YS和IFCC任务组YS及其相应成员这三个大型网络中列出的YS及其相应成员分发,覆盖53个国家。结果来自40个国家的119名青年科学家参与了本次调查。80% %没有在学术教育中学习数字技能,但96% %认为他们需要学习。数字素养与编程、人工智能和机器学习、统计学、通信、大数据和数据分析等术语有关。我们的调查结果表明,在数字技能领域获得更多的知识和培训不仅是必要的,而且也是年轻科学家所希望的。一个多样化的学习环境,包括教程文章、视频、练习、技术文章、有用链接的集合、在线会议和亲自训练营,对于应对具有不同语言、卫生系统和时区的国际项目的挑战至关重要。
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引用次数: 1
German Congress of Laboratory Medicine: 17th Annual Congress of the DGKL and 4th Symposium of the Biomedical Analytics of the DVTA e. V 德国检验医学大会:第17届DGKL年会和第4届DVTA生物医学分析研讨会
Q4 OTORHINOLARYNGOLOGY Pub Date : 2022-10-04 DOI: 10.1515/labmed-2022-0125
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引用次数: 1
Frontmatter
Q4 OTORHINOLARYNGOLOGY Pub Date : 2022-04-01 DOI: 10.1515/labmed-2022-frontmatter2
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引用次数: 0
XVth International Congress on Pediatric Laboratory Medicine, Munich, Nov 27–28, 2021; Poster Presentation Abstracts 第15届国际儿科检验医学大会,慕尼黑,2021年11月27-28日;海报展示摘要
Q4 OTORHINOLARYNGOLOGY Pub Date : 2021-11-15 DOI: 10.1515/labmed-2021-0159
Adenosine Deaminase 2 Deficiency (DADA2) (OMIM: 607575) is a monogenic autoinflammatory disease caused by loss of function homozygous or heterozygous mutations in ADA 2 gene (previously CECR1, Cat Eye Syndrome Chromosome Region 1. A timely diagnosis is crucial to start Anti-TNF therapies that are efficacious in controlling the disease. The confirmation of DADA2 is based on DNA sequencing and enzymatic assay. It is thus very important to have robust and reliable assays that can be rapidly utilized in specialized laboratories that can centralize samples from other centers. In this paper we show a novel enzymatic assay based on liquid chromatography-tandem mass spectrometry that allows the accurate determination of the ADA2 enzyme activity starting from very small amounts of plasma spotted on filter paper (dried plasma spot). ADA2 activity was determined in dried plasma spots (DPS) from 44 healthy donors, 18 DADA2 patients and 4 carriers. ADA2 expressed mean ± ± ± ± WHO has described malnutrition as a “ global problem ” , having an adverse effect on the survival, health performance, and progression of the population group. It is highly prevalent in developing countries among children below the age of 5 years; with severe forms occurring in 1-10% and underweight observed in 20-40%. The aim of the study was to evaluate copper and zinc levels in children with protein-energy malnutrition. Serum zinc and copper were determined in thirty (30) malnourished pre-school-age children (age, 1-5 years) and thirty (30) age-and sex-matched apparently healthy well-nourished controls to evaluate the effect of protein- energy malnutrition on serum zinc and copper. Serum zinc and copper concentrations were estimated by the Atomic Absorption Spectrophotometer. BACKGROUND-AIM Multisystem Inflammatory Syndrome in Children (MIS-C) associated with Coronavirus Disease (COVID-19) is a serious condition among paediatric patients, usually under 19 years, with previous exposure to SARS-CoV-2. Clinical manifestations consist of persistent fever along with weakness, abdominal pain, vomiting and/or diarrhea and skin rashes. Although this syndrome is rare and has variable expressivity, some children can evolve from hypotension and cardiogenic shock to multiple organ dysfunction. Laboratory abnormalities include elevation of acute phase reactants and myocardial dysfunction; similar to those observed in Kawasaki disease or toxic shock syndrome, requiring a differential diagnosis. RT-PCR respiratory viruses (SARS-CoV-2, RSV, H. in fl uenzae ), blood and urine cultures: negative. RESULTS Elevation of inflammatory markers (C-reactive protein 282 mg/L, ferritin 1103 ng/mL, IL-6 152 pg/mL, fi brinogen 667 mg/dL, PCT 6.56 ng/mL); cardiac markers (NT-proBNP 966 pg/mL); D-dimer 1120 ng/mL and renal and liver function tests (creatinine 1,04 mg/dL and GPT 44 U/L). Decrease in sodium (130 Congenital Disorders of Glycosylation (CDG) are a rapidly expanding family of rare inborn errors of metabolis
对该患者进行了分子检测。通过PCR扩增α - [SCNN1A (GenBank NM_001038.5)]、β - [SCNN1B (GenBank NM_000336.2)]和γ - ENaC(上皮钠通道)亚基[SCNN1G (GenBank NM_001039.3)]基因的所有外显子和外显子-内含子边界(New England Biolabs, Ipswich, MA, USA)。根据制造商的说明,使用Nimagen, BrilliantDye™终结者周期测序试剂盒V3.1, BRD3-100/1000对片段进行测序。生物化学试验结果显示低钾血症、高钠血症和代谢性碱中毒与醛固酮和肾素浓度的抑制有关。最初的基因检测,仅限于SCNN1B基因的c.1815G>A (pR563Q),呈阴性。进一步的测试包括对SCNN1A和SCNN1B进行测序,并在每个亚基中发现复合杂合突变。在SCNN1A中检测到c.1000G>A和c.1987A>G突变,在SCNN1B中检测到c. 7g >A和c.1325G>T突变。通过“连字符”质谱应用及时、有效地诊断遗传性代谢疾病(IMDs)已成为标准做法。本研究的目的是比较基于气相色谱-质谱(GC-MS)的氨基酸分析与自动液相色谱-串联质谱(LC-MS/MS)在氨基酸相关IMDs诊断中的应用。这包括通过分析14份匿名尿液样本来比较两种方法的分析时间和诊断能力。背景:中暑是一种危及生命的损伤,需要神经危重症护理,其特征是中枢神经系统功能障碍、多器官功能衰竭和极端高温,发生在炎热天气或极端体力消耗的环境中。演示。临床报告:一名16岁的男孩在河滩度过一天后,因不适,疲劳和运动障碍危机增加而被送入儿科急诊室。既往病史包括精神运动发育迟缓,运动障碍伴运动障碍危象。他曾两次因运动障碍合并急性肾损伤和横纹肌溶解而住院。临床观察表现为脱水、高热、上肢运动障碍。实验室检查患者血白细胞35、4 × 10 9 /L、肌酐(Cr) 1.61mg/ dL、肌酸激酶(CK) 4549U/L、肌钙蛋白T (TnT) 32ng/L、高钠血症、低钾血症。SARS-CoV-2 RT-PCR检测呈阴性。由于中暑伴横纹肌溶解而被诊断为高钠血症性脱水和肾性AKI,因此引入了积极的液体治疗。囊性纤维化(CF)是一种遗传性疾病。由于其表现多样,包括肺、胰腺和生殖器官,它出现在许多儿科疾病的鉴别诊断中。根据共识标准诊断CF包括确定临床特征或阳性家族史和通过确定基因突变或阳性汗液氯化物结果进行实验室确认(两个独立的场合)。超过1500个CFTR基因突变使得分子诊断变得困难。在印度,最常见的突变(Δ F508)发生频率较低,也存在罕见和新颖的突变。因此,汗液氯化物分析是一种方便的诊断替代工具。CF并不像想象的那么罕见,在印度儿童中可能没有得到充分诊断。在本文中,我们报告了我们的经验,在印度东部地区的儿童汗液氯化物分析使用低成本的本土方法。简单地说,包括匹罗卡品离子电泳的局部汗液生产,在预称重过滤器分钟,估计氯与氯化汞滴定。该方法灵敏度为10 mEq/L。1型酪氨酸血症(Tyr-1)是一种由酪氨酸代谢缺陷引起的先天性代谢错误,其特征是酪氨酸及其毒性代谢物琥珀酰丙酮(SA)的积累。Tyr-1患者的治疗是基于硝基萘醌(NTBC)给药和酪氨酸和苯丙氨酸限制饮食。为了预防肝脏并发症,如肝癌的发生,建议永久监测血液中NTBC浓度、SA水平、甲胎蛋白(α FP)和肝功能生物标志物,根据目前的共识指南,在每个临床对照中进行测量。此外,对这些参数的常规监测可以改善患者的NTBC剂量。本研究旨在探讨Tyr-1患者NTBC的最佳治疗范围。DBS的浓度范围为14.5 ~ 24.9 μ mol/L。
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引用次数: 1
Frontmatter
Q4 OTORHINOLARYNGOLOGY Pub Date : 2018-10-25 DOI: 10.1515/labmed-2018-frontmatter5
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引用次数: 0
German Congress of Laboratory Medicine: 15th Annual Congress of the DGKL (German Society of Clinical Chemistry and Laboratory Medicine) and the 3rd Symposium on Biomedical Analysis 德国检验医学大会:第15届DGKL(德国临床化学和检验医学学会)年会和第三届生物医学分析研讨会
Q4 OTORHINOLARYNGOLOGY Pub Date : 2018-08-28 DOI: 10.1515/labmed-2018-0115
S. Sollfrank, Stefano Barco, A. Trinchero, L. Tomao, B. Zieger, J. Hovinga, Laura Conti, Anke, Adenäuer, E. Miloni, Karl Lackner, H. Rossmann
s*) German Congress of Laboratory Medicine: 15th Annual Congress of the DGKL (German Society of Clinical Chemistry and Laboratory Medicine) and the 3rd Symposium on Biomedical Analysis Mannheim, Germany, September 26–29, 2018 Under the auspices of International Federation of Clinical Chemistry and Laboratory Medicine European Federation of Clinical Chemistry and Laboratory Medicine Congress Presidents Eberhard Wieland (Stuttgart, Germany) Matthias Orth (Stuttgart, Germany) Hansjörg Baum (Ludwigsburg, Germany) Christiane Maschek (DVTA, Hamburg, Germany) Sponsor of Abstract awards Dr. Neumann & Kindler Ltd. & Co. KG (Bochum, Germany) Scientific Committee Ahmad-Nejad Parviz; Aufenanger, Johannes; Bauer Matthias; Baum Hannsjörg; Bertsch Thomas; Birschmann Ingvild; Bobrowski Andreas; Brand Korbinian; Bühling Frank; Burkhardt Ralph; Ceglarek Uta; Chavakis Triantafyllos; Danckwardt Sven; Fischer Andreas; Fraunberger Peter; Gässler Norbert; Gerritzen Andreas; Griesmacher Andrea; Gurr Eberhard; Häcker Georg; Haferlach Thorsten; Hallbach Jürgen; Haselmann Verena; Haushofer Alexander; Heeg Klaus; Hersberger Martin; Hoffmann Georg; Hofmann Walter; Holdenrieder Stefan; Hunfeld Klaus-Peter; Isermann Berend; Junker Ralf; Kaap-Fröhlich Sylvia; Kachler Marco; Kessler Harald; Kiehntopf Michael; Klouche Mariam; Knabbe Cornelius; Kohse Klaus P.; Kratzsch Jürgen; Lackner Karl; Lichtinghagen Ralf; Luppa Peter; Magnussen Karin; Maschek Christiane; Miethke Thomas; Nauck Matthias; Neumaier Michael; Nofer Jerzy-Roch; Orth Matthias; Peetz Dirk; Peter Andreas; Petersmann Astrid; Rauh Manfred; Renné Thomas; Renz Harald; Ruland Jürgen; Schimanski Sven; Schuff-Werner Peter; Siegert Gabriele; Stoffel-Wagner Birgit; Streichert Thomas; Tauber Rudolf; Teupser Daniel; Uhr Manfred; Vogeser Michael; von Ahsen Nicolas; von Eckardstein Arnold; Walter Ulrich; Walter Philipp; Wiegel Bernhard; Wieland Eberhard *)These abstracts have been reproduced directly from the material supplied by the authors, without editorial alteration by the staff of this Journal. Insufficiencies of preparation, grammar, spelling, style, syntax, and usage are the authors. Unauthenticated Download Date | 11/1/18 3:56 PM eA2 15th DGKL Annual Congress, Mannheim, Germany, September 26–29, 2018
5 *)德国检验医学大会;第15届DGKL(德国临床化学和检验医学学会)年会和第三届生物医学分析研讨会,德国曼海姆,2018年9月26日至29日在国际临床化学和检验医学联合会的主持下,欧洲临床化学和检验医学联合会大会主席Eberhard Wieland(德国斯图加特)Matthias Orth(德国斯图加特)Hansjörg Baum(德国路德维希堡)Christiane Maschek(德国DVTA),Abstract awards赞助方Dr. Neumann & Kindler Ltd & Co. KG(德国波鸿)科学委员会ahmed - nejad Parviz;Aufenanger,约翰内斯;鲍尔马提亚;Baum Hannsjorg;托马斯伯奇;Birschmann Ingvild;Bobrowski安德烈亚斯;品牌Korbinian;镶嵌细工弗兰克;Burkhardt拉尔夫;Ceglarek Uta;Chavakis Triantafyllos;Danckwardt斯文;费舍尔安德烈亚斯;彼得Fraunberger;Gassler Norbert;Gerritzen安德烈亚斯;Griesmacher安德里亚;Gurr埃伯哈德;黑客Georg;Haferlach Thorsten;Hallbach尤尔根•;Haselmann Verena;Haushofer亚历山大;Heeg克劳斯;Hersberger马丁;霍夫曼Georg;霍夫曼沃尔特;Holdenrieder Stefan;Hunfeld Klaus-Peter;Isermann Berend;破车拉尔夫;Kaap-Frohlich西尔维娅;Kachler马可·;凯斯勒哈拉尔德;Kiehntopf迈克尔;Klouche玛利亚姆;Knabbe哥尼流;Kohse Klaus p;Kratzsch尤尔根•;Lackner卡尔;Lichtinghagen拉尔夫;彼得Luppa;Magnussen Karin;Maschek克丽丝汀;Miethke托马斯;Nauck马提亚;Neumaier迈克尔;nof Jerzy-Roch;奥尔特马提亚;Peetz德克;彼得·安德烈亚斯;Petersmann阿斯特丽德;Rauh曼弗雷德;托马斯·雷恩;还建议哈拉尔德;罗兰尤尔根•;Schimanski斯文;彼得Schuff-Werner;Siegert Gabriele;Stoffel-Wagner Birgit;Streichert托马斯;陶贝尔鲁道夫;Teupser丹尼尔;表曼弗雷德;Vogeser迈克尔;冯·阿赫森·尼古拉斯;冯·埃卡尔德斯坦·阿诺德;沃尔特·乌尔里希;沃尔特·菲利普;Wiegel Bernhard;Wieland Eberhard *)这些摘要是直接从作者提供的材料中复制出来的,没有经过本刊工作人员的编辑修改。不足的准备,语法,拼写,风格,句法和用法是作者。第十五届DGKL年会,德国曼海姆,2018年9月26-29日
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引用次数: 0
Frontmatter
Q4 OTORHINOLARYNGOLOGY Pub Date : 2018-08-28 DOI: 10.1515/labmed-2018-frontmatter4
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引用次数: 0
Frontmatter
Q4 OTORHINOLARYNGOLOGY Pub Date : 2018-06-27 DOI: 10.1515/labmed-2018-frontmatter3
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引用次数: 0
Real-time PCR and high-resolution melt analysis methods for detection of pathogenic species of Brucella 实时荧光定量PCR和高分辨率熔体分析方法检测布鲁氏菌致病性菌种
Q4 OTORHINOLARYNGOLOGY Pub Date : 2017-12-20 DOI: 10.1515/labmed-2017-0030
F. Masjedian Jazi, R. Mirnejad, Vahhab Piranfar, Noor Amir Mozafari, T. Zahraei Salehi, M. Khormali, M. Sedighi, G. Irajian
Abstract Background: It is of great importance to quickly and accurately detect Brucella abortus and Brucella melitensis from clinical and non-clinical samples because of their high prevalence and high risk in causing brucellosis, a life-threating infectious disease affecting both humans and animals. Methods: The current study describes a new method for the detection of brucellosis in clinical samples using real-time polymerase chain reaction (PCR) and high-resolution melt (HRM) curve analysis. This study was conducted on 70 human and 55 animal isolates with more than 1/80 serum antibody titers. Additionally, the accuracy and specificity of the methods were compared. Results: The mean range [cycles threshold±standard deviation (CT±SD)] for the amplified samples was 15.39–25.15 by real-time PCR. The melting peak range (°C) ±SD for B. abortus and B. melitensis was 90.10±0.4 and 89.70±0.4, respectively, and 10 was reported on peak height. Conclusions: The results of HRM analysis can be used for species differentiation and bacterial genotyping according to nucleotide polymorphism. This molecular method could help in diagnosing Brucella quickly and precisely. Quick recognition of Brucella species could decrease its prevalence among humans and animals and mitigate economic loss.
摘要背景:由于流产布鲁氏菌和melitensis布鲁氏菌在临床和非临床样品中的高流行率和高风险,导致布鲁氏菌病(一种危害人类和动物生命的传染病)的快速准确检测具有重要意义。方法:本研究描述了一种实时聚合酶链反应(PCR)和高分辨率熔融(HRM)曲线分析检测临床样品布鲁氏菌病的新方法。本研究对血清抗体滴度超过1/80的70株人和55株动物分离株进行了研究。此外,比较了两种方法的准确性和特异性。结果:real-time PCR扩增样品的平均范围[周期阈值±标准差(CT±SD)]为15.39 ~ 25.15。abortus和B. melitensis的熔化峰范围(°C)±SD分别为90.10±0.4和89.70±0.4,峰高为10。结论:HRM分析结果可用于物种分化和细菌核苷酸多态性基因分型。这种分子方法有助于快速准确地诊断布鲁氏菌。迅速识别布鲁氏菌可以减少其在人类和动物中的流行并减轻经济损失。
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引用次数: 7
期刊
Laboratoriumsmedizin-Journal of Laboratory Medicine
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