Laboratory medicine最新文献_第6页

A simple HPLC method for the determination of plasma progesterone levels in the third trimester of human pregnancy. 一种测定人妊娠晚期血浆黄体酮水平的简便高效液相色谱法。

Laboratory medicine Pub Date : 2024-12-19 DOI: 10.1093/labmed/lmae098

Mevlut Albayrak, Yucel Kadioglu, Fatma Demirkaya-Miloglu, Bunyamin Borekci

{"title":"A simple HPLC method for the determination of plasma progesterone levels in the third trimester of human pregnancy.","authors":"Mevlut Albayrak, Yucel Kadioglu, Fatma Demirkaya-Miloglu, Bunyamin Borekci","doi":"10.1093/labmed/lmae098","DOIUrl":"https://doi.org/10.1093/labmed/lmae098","url":null,"abstract":"Progesterone is a steroid hormone primarily associated with pregnancy. A simple, rapid, and reliable high-performance liquid chromatography (HPLC) method has been developed and validated for the quantification of progesterone in human plasma. The method consists of a simple liquid-liquid extraction of progesterone and internal standard (estriol) from human plasma using a mixture of hexane and diethyl ether. The chromatographic determination of progesterone was performed using an acetonitrile-water (70:30, v/v) mobile phase with a C18 reversed-phase column. The method achieved an extraction recovery of greater than 96.4% from spiked plasma samples. Intra- and inter-day precision were generally acceptable, with relative SD% less than ≤6.60% and accuracy (relative error %) better than 3.64%. The developed and validated method was used to successfully quantify progesterone levels in plasma samples collected from women during the third trimester of pregnancy. Furthermore, a statistical comparison was conducted between progesterone concentrations in plasma samples obtained from 2 groups of pregnant women: group 1 (n = 9) at 30-35 weeks and group 2 (n = 9) at 36-41 weeks. The developed and validated HPLC method described in this study enables the successful determination of progesterone in human plasma, offering advantages such as shorter analysis time, simplicity, cost-effectiveness, and potential routine use during pregnancy.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142866792","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cracking the code of aldosterone synthase deficiency: bridging genetics and biochemistry: a case report. 破解醛固酮合成酶缺乏症的密码：连接遗传学和生物化学：一例报告。

Laboratory medicine Pub Date : 2024-12-19 DOI: 10.1093/labmed/lmae102

Lekha Priyadharshini Kamarajan, Mala Mahto, Sushil Kumar, Pradeep Kumar

{"title":"Cracking the code of aldosterone synthase deficiency: bridging genetics and biochemistry: a case report.","authors":"Lekha Priyadharshini Kamarajan, Mala Mahto, Sushil Kumar, Pradeep Kumar","doi":"10.1093/labmed/lmae102","DOIUrl":"https://doi.org/10.1093/labmed/lmae102","url":null,"abstract":"Objective: Aldosterone synthase deficiency (ASD) is a rare autosomal recessive inherited disease with an overall clinical phenotype of failure to thrive, vomiting, severe dehydration, hyperkalemia, and hyponatremia. Mutations in the CYP11B2 gene encoding AS are responsible for the occurrence of ASD. Defects in CYP11B2 gene have only been reported in a limited number of cases worldwide. Due to this potential life-threatening risk, a comprehensive hormonal investigation followed by genetic confirmation is essential for the clinical management of offspring.Methods: We report a case of a newborn who was found to have persistent hyponatremia, hyperkalemia, low aldosterone level, raised renin levels, normal cortisol, and normal 17 hydroxyprogesterone level, suggesting the diagnosis of isolated ASD.Results: Genetic report was suggestive of isolated ASD caused by a novel base pair deletion in exon 3, homozygous CYP11B2 variant (chr8:g.142915123_142915125del; depth: 124x d) (p.Lys175del; ENST00000323110.2). After initial steps of rehydration and salt restoration, the child was started on oral tablet fludrocortisone. The child responded well and showed a good gain in growth and development.Discussion: We elaborate on the biochemical and genetic work-up performed and describe potential pitfalls in CYP11B2 sequencing due to its homology to CYP11B1.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142866794","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Diagnostic approach for multiple sclerosis: optimizing algorithms for intrathecal synthesis of immunoglobulins. 多发性硬化症的诊断方法：鞘内免疫球蛋白合成的优化算法。

Laboratory medicine Pub Date : 2024-12-19 DOI: 10.1093/labmed/lmae101

Jorge Ferriz, Cristina Guallart, Pilar Timoneda, Marta Fandos, Javier Lopez-Arqueros, Antonio Sierra-Rivera, Marta Garcia-Hita, Goitzane Marcaida, Maria Carcelén-Gadea

{"title":"Diagnostic approach for multiple sclerosis: optimizing algorithms for intrathecal synthesis of immunoglobulins.","authors":"Jorge Ferriz, Cristina Guallart, Pilar Timoneda, Marta Fandos, Javier Lopez-Arqueros, Antonio Sierra-Rivera, Marta Garcia-Hita, Goitzane Marcaida, Maria Carcelén-Gadea","doi":"10.1093/labmed/lmae101","DOIUrl":"https://doi.org/10.1093/labmed/lmae101","url":null,"abstract":"Background: The kappa-free light chain (κFLC) index has shown its value in detecting the intrathecal synthesis of immunoglobulins. We aimed to evaluate the diagnostic performance of the κFLC index for multiple sclerosis (MS) and compare different algorithms proposed in the literature to optimize its use for our population.Methods: Based on the results of the oligoclonal bands (OCBs) and κFLC index of 255 patients with suspected MS different optimization strategies were evaluated, for which the optimal κFLC index cut-off thresholds were calculated.Results: The best diagnostic performance was achieved by using a reflexive algorithm, in which OCBs are only performed according to the κFLC index result. With a single cut-off (κFLC index = 7.9), an accuracy of 92.2% was obtained (sensitivity = 92.4%, specificity = 92%) with an OCB performance rate of 58.1%. When applying 2 cut-offs (κFLC index = 4.2 and 13), the accuracy was the same (92.2%, sensitivity = 89.6%, specificity = 94%), but the OCB performance rate dropped to 29.4%.Conclusion: The 2-step strategy proposed with κFLC determination followed by OCB analysis in the borderline cases appears to be the most suitable solution, further optimized by adjusting the decision thresholds to 4.2 < κFLC index < 13, resulting in high accuracy and the most saving of OCBs.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142866823","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Is the repeat worth it? Optimizing syndromic panel pathogen detection protocols. 这样的重复值得吗？优化综合征组病原体检测方案。

Laboratory medicine Pub Date : 2024-12-17 DOI: 10.1093/labmed/lmae100

Filipe M Cerqueira, Linh Do, Janet Enderle, Ping Ren

{"title":"Is the repeat worth it? Optimizing syndromic panel pathogen detection protocols.","authors":"Filipe M Cerqueira, Linh Do, Janet Enderle, Ping Ren","doi":"10.1093/labmed/lmae100","DOIUrl":"https://doi.org/10.1093/labmed/lmae100","url":null,"abstract":"Objective: The aim of the study was to compare the cost and clinical impact of repeating BioFire FilmArray gastrointestinal (GI) and respiratory (RP) panel assays with 3 vs 4 pathogen targets positive.Method: We analyzed 12,027 GI and RP panels to evaluate our retesting policy, which retested panels with 3 or more detected pathogens (3-pathogen protocol) compared with the manufacturer's 4-pathogen (4-pathogen protocol) recommendation. We compared the retesting results, calculated the cost implications, and reviewed the clinical impact on antibiotic prescriptions and patient outcomes.Results: Retesting with our 3-pathogen protocol revealed that 81% (39/48) of GI and 76% (26/34) of RP panels had identical results, whereas 19% (9/48) of GI and 24% (8/34) of RP panels showed discrepancies on retesting. The additional cost incurred by our protocol compared with the manufacturer's protocol was $9820.32. There was no evidence that our more stringent policy affected antibiotic prescription or clinical outcomes.Conclusion: Our more stringent 3-pathogen protocol for retesting panels did not improve patient management compared with the manufacturer's 4-pathogen protocol but resulted in unnecessary costs and increased the risk of depleting testing kits during supply shortages. Consequently, we adopted the manufacturer's suggestions, highlighting the need to balance clinical rigor with cost-effectiveness in laboratory testing protocols.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142840713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Neurturin gene IVSI-663 polymorphism but not RET variants is associated with increased risk for breast cancer. Neurturin 基因 IVSI-663 多态性而非 RET 变异与乳腺癌风险增加有关。

Laboratory medicine Pub Date : 2024-12-13 DOI: 10.1093/labmed/lmae097

Tuba Taşkan, Farshad Noori, Osman Kurukahvecioğlu, Niyazi Karaman, Aymelek Gönenç

{"title":"Neurturin gene IVSI-663 polymorphism but not RET variants is associated with increased risk for breast cancer.","authors":"Tuba Taşkan, Farshad Noori, Osman Kurukahvecioğlu, Niyazi Karaman, Aymelek Gönenç","doi":"10.1093/labmed/lmae097","DOIUrl":"https://doi.org/10.1093/labmed/lmae097","url":null,"abstract":"Background: Gene polymorphisms of rearranged during transfection (RET) and its ligand neurturin (NRTN) are one of the focus of studies in the investigation of cancer pathogenesis, invasion, and metastasis. In this study, we aimed to examine the possible risk of breast cancer between RET G691S, L769L, S904S, and NRTN IVSI-663 polymorphisms and to evaluate serum NRTN, brain-derived neurotrophic factor (BDNF), matrix metalloproteinase (MMP)-2, MMP-9, and focal adhesion kinase (FAK) levels.Methods: The study consists of 110 breast cancer patients and 110 controls. Polymorphisms were detected by the polymerase chain reaction method from study groups whole blood.Results: The NRTN IVSI-663 polymorphism in G allele has been found to be 1.54 fold increased the risk of breast cancer, however AA genotype has been found 0.43 fold decreased the risk of breast cancer (P < .05, P < .05, respectively). Study groups showed a similar profile for RET G691S, L769L, S904S allele frequencies and genotype distributions (P > .05). In the patient group, significant increase in serum NRTN and FAK levels and decrease in MMP-2 and MMP-9 levels were found (P < .05, P < .05, P < .05, P < .05, respectively).Discussion: In summary that increased breast cancer risk with the G allele in NRTN gene IVSI-663 polymorphism, as well as the increased serum NRTN and FAK levels, will contribute to the diagnosis, prognosis and determination of new treatment strategies.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142823029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Comparison of organism recovery and staining properties for 3 methods of Gram stain preparation. 比较三种革兰氏染色制备方法的菌体回收率和染色性能。

Laboratory medicine Pub Date : 2024-12-04 DOI: 10.1093/labmed/lmae095

Audrey Pisahl, Martha Timmons, Sheila Criswell

{"title":"Comparison of organism recovery and staining properties for 3 methods of Gram stain preparation.","authors":"Audrey Pisahl, Martha Timmons, Sheila Criswell","doi":"10.1093/labmed/lmae095","DOIUrl":"https://doi.org/10.1093/labmed/lmae095","url":null,"abstract":"Background: One possible way to improve accuracy of blood culture Gram stain analyses is increasing the concentration of organisms on the slide prepared from the blood culture broth.Methods: From each positive blood culture bottle, 1 direct smear, a 1-drop concentrated preparation, and 1 cytospin/cytofuge preparation were Gram stained and evaluated. There were 2 evaluators who ranked the 3 preparations from most to fewest organisms seen. Each preparation was also scored as acceptable or unacceptable for both organism and background stain quality.Results: The 1-drop slide exhibited the highest concentration of organisms compared with both the cytospin and direct smear but presented frequent difficulties with interpretation of Gram staining acceptability with both the background and the organisms. Although cytospin preparations are known to concentrate liquid specimens, the current study found no enrichment of microorganisms over the direct smear preparation. The cytospin was, however, advantageous for enhancing organism morphology by creating a monolayer of elements and reducing background artifacts.Conclusion: The 1-drop preparation is simple, inexpensive, and effective at increasing organism concentration for analysis, making it a good option when processing culture bottles with low organism loads, but more investigation into methods of improving stain quality is necessary.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142831563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The importance of hemolysis detection among neonates for interpretation of potassium results. 新生儿溶血检测对解读血钾结果的重要性。

Laboratory medicine Pub Date : 2024-12-03 DOI: 10.1093/labmed/lmae094

Alan H B Wu

引用次数: 0

Advisory on delayed fading caused by the use of a xylene substitute for frozen tissue specimen staining in micrographic surgery. 关于在显微摄影手术中使用二甲苯替代品对冷冻组织标本进行染色而导致延迟褪色的咨询。

Laboratory medicine Pub Date : 2024-12-03 DOI: 10.1093/labmed/lmae099

Mitchell S Davis, Rini M Desai, Daniel B Baird, Cloyce L Stetson

{"title":"Advisory on delayed fading caused by the use of a xylene substitute for frozen tissue specimen staining in micrographic surgery.","authors":"Mitchell S Davis, Rini M Desai, Daniel B Baird, Cloyce L Stetson","doi":"10.1093/labmed/lmae099","DOIUrl":"https://doi.org/10.1093/labmed/lmae099","url":null,"abstract":"Background: The use of xylene substitutes is becoming more common in the setting of micrographic surgery frozen tissue section staining, and dermatologic surgeons need to be aware of possible undesirable delayed effects of using these agents and the possibility of modifying H&E staining protocols to prevent delayed fading. This report demonstrates an undesirable outcome of using an isoparaffinic aliphatic hydrocarbon as a xylene substitute, implementation of a quality improvement intervention to eliminate frozen section slide fading in the setting of micrographic surgery tissue processing, and recommendations for the modification of protocol when using a xylene substitute.Clinical and laboratory information: Frozen section slides processed with xylene and xylene substitute were analyzed by histotechnicians, a dermatopathologist, and a micrographic surgery surgeon at 1-week and 1-month intervals. The use of a standard H&E protocol resulted in zero stains fading when using xylene as a clearing agent, but delayed fading when using a xylene substitute.Discussion: Using an isoparaffinic aliphatic hydrocarbon as a xylene substitute can lead to excess water carryover, which may result in delayed hematoxylin fading in micrographic surgery tissue staining, so using this xylene substitute likely requires modification to the dehydration phase and tap water immersion phase to prevent fading.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824686","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Serologic and molecular identification of the variation on ABO*B.01 gene in ABO glycosyltransferases associated with Bw phenotype: a case report. ABO*B变异的血清学和分子鉴定。ABO糖基转移酶01基因与Bw表型相关1例报告

Laboratory medicine Pub Date : 2024-11-29 DOI: 10.1093/labmed/lmae086

Xiaoshuai Li, Qiushi Wang

{"title":"Serologic and molecular identification of the variation on ABO*B.01 gene in ABO glycosyltransferases associated with Bw phenotype: a case report.","authors":"Xiaoshuai Li, Qiushi Wang","doi":"10.1093/labmed/lmae086","DOIUrl":"https://doi.org/10.1093/labmed/lmae086","url":null,"abstract":"AB antigen is formed by glycosyltransferase enzyme, which catalyzes the corresponding substrates to be connected to the galactose of the precursor substance H antigen. To study the effect of the α-1,3-D galactosyltransferase (GTB) gene mutation on B antigen expression, we explored its molecular mechanism by combining molecular biological methods with bioinformatics. The ABO blood type of the patients was identified using conventional serologic methods, and the polymerase chain reaction (PCR) products of exons 1-7 of the ABO gene were directly sequenced using gene-specific primers and direct sequencing. Proteins in the secretory supernatant of transfected cells were collected in vitro, and GTB content was quantitatively analyzed using western blotting. Bioinformatics software was used to simulate the 3-dimensional structure of the mutant protein. In this case, the patient's serologic test results revealed subtype B. Gene sequencing results confirmed a mutation at base 278 of exon 6. The mutation (c.278C>T) changed the 93rd amino acid of the protein polypeptide chain from proline to leucine (p.P93L). The variant p.P93L did not affect the expression and secretion of GTB, but affected enzyme activity and stability, ultimately manifesting as weakened expression of the B antigen and reduced affinity.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Evidence-based approach for the generation of a multivariate logistic regression model that predicts instrument failure. 基于证据的方法，生成可预测仪器故障的多元逻辑回归模型。

Laboratory medicine Pub Date : 2024-11-21 DOI: 10.1093/labmed/lmae092

Stephan L Cleveland, Carol A Carman, Niti Vyas, Jose H Salazar, Juan U Rojo

{"title":"Evidence-based approach for the generation of a multivariate logistic regression model that predicts instrument failure.","authors":"Stephan L Cleveland, Carol A Carman, Niti Vyas, Jose H Salazar, Juan U Rojo","doi":"10.1093/labmed/lmae092","DOIUrl":"https://doi.org/10.1093/labmed/lmae092","url":null,"abstract":"Objective: Identification of instrument failure (IF) represents a point to improve the quality of services provided by medical laboratories. Here, a logistic regression model was created to define the relationship between instrument downtime and laboratory quality management systems.Methods: Interval-level quality control (QC) and categorical quality assurance data from 3 identical chemistry analyzers was utilized to generate a logistic regression model able to predict IF. A case-control approach and the forward stepwise likelihood-ratio method was used to develop the logistic regression model. The model was tested using a case-control dataset and again using the complete sample.Results: A total of 650 downtime events were identified. A total of 22,880 QC data points, 187 calibrations, 24 proficiency testing events, and 107 maintenance records were analyzed. The regression model was able to correctly predict 59.2% of no instrument downtime events and 69.2% of instrument downtime events using the case-control data. Using the entire data set, the sensitivity of the model was 69.2% and the specificity was 58.2%.Conclusion: A logistic regression model can predict instrument downtime nearly 70% of the time. This study acts as a proof of concept using a limited data set collected by the chemistry laboratory.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142684017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0