Laboratory medicine最新文献_第3页

Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disability. 一名患有智力障碍的 11 岁伊朗男孩体内新的 SYNGAP1 基因变异的分子和表型发现。

Laboratory medicine Pub Date : 2024-03-07 DOI: 10.1093/labmed/lmad064

Atefeh Mir, Yongjun Song, Hane Lee, Zakiye Nadeali, Fahimeh Akbarian, Mohammad Amin Tabatabaiefar

{"title":"Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disability.","authors":"Atefeh Mir, Yongjun Song, Hane Lee, Zakiye Nadeali, Fahimeh Akbarian, Mohammad Amin Tabatabaiefar","doi":"10.1093/labmed/lmad064","DOIUrl":"10.1093/labmed/lmad064","url":null,"abstract":"Objective: Intellectual developmental disorder (IDD) type 5 is an autosomal dominant (AD) disorder and is characterized by intellectual disability (ID), psychomotor developmental delay, variable autism phenotypes, microcephaly, and seizure. IDD can be caused by mutations in the SYNGAP1 gene, which encodes a Ras GTPase-activating protein. This study revealed a novel de novo nonsense variant in SYNGAP1. The identification of such variants is essential for genetic counseling in patients and their families.Methods: Exome sequencing implicated the causative variant. Sanger sequencing and cosegregation analyses were used to confirm the variant. Multiple in silico analysis tools were applied to interpret the variant using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines.Results: The de novo NM_006772.3(SYNGAP1):c.3685C>T variant was identified in an 11-year-old boy with severe intellectual disability, neurodevelopmental delay, speech disorder, ataxia, specific dysmorphic facial features, and aggressive behavior.Conclusion: The current study findings expand the existing knowledge of variants in SYNGAP1 that have been previously associated with nonsyndromic intellectual disability and autism, extending the spectrum of phenotypes associated with this gene. The data have implications for genetic diagnosis and counseling in similar phenotypic presentations.","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"204-208"},"PeriodicalIF":0.0,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9837378","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

Blood usage and wastage at an academic teaching hospital before the initial wave of COVID-19 and during and after its quarantine periods. 一家学术教学医院在 COVID-19 初潮前、隔离期间和隔离后的血液使用和浪费情况。

Laboratory medicine Pub Date : 2024-03-07 DOI: 10.1093/labmed/lmad059

Amber Nguyen, Sarah Burnett-Greenup, Diana Riddle, Janet Enderle, Carol Carman, Rajkumar Rajendran

{"title":"Blood usage and wastage at an academic teaching hospital before the initial wave of COVID-19 and during and after its quarantine periods.","authors":"Amber Nguyen, Sarah Burnett-Greenup, Diana Riddle, Janet Enderle, Carol Carman, Rajkumar Rajendran","doi":"10.1093/labmed/lmad059","DOIUrl":"10.1093/labmed/lmad059","url":null,"abstract":"Background: Transfusion services aim to maintain sufficient blood inventory to support patients, even with challenges introduced by COVID-19.Objectives: To review blood usage and wastage before, during, and after COVID-19 surges, and to evaluate effects on inventory.Methods: In a retrospective review, we evaluated the association between time periods corresponding to the initial wave of COVID-19 (pre-COVID-19, quarantine, and postquarantine) and blood usage/wastage. Data were stratified by period, and χ2 testing was used to examine the association between these time periods and blood usage/wastage.Results: In the period before COVID-19, the transfusion service used more units, and in the period after quarantine, more units went to waste. Across all time periods, the most-used product was RBCs, and the most wasted product was plasma. A statistically significant association existed between usage (χ2 [6/3209 (0.2%)]) = 24.534; P ≤.001; Cramer V = 0.62), wastage (χ2 [6/775 (0.8%)]) = 21.673; P = .001; Cramer V = 0.118), and time period. The postquarantine period displayed the highest wastage costs ($51,032.35), compared with the pre-COVID-19 period ($29,734.45).Conclusion: Changes in blood inventory use and waste are significantly associated with the onset and continuation of COVID-19.","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"198-203"},"PeriodicalIF":0.0,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9853648","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

Insulin receptor substrate 2 gene Gly1057Asp polymorphism is a risk factor for nonalcoholic fatty liver disease. 胰岛素受体底物 2 基因 Gly1057Asp 多态性是非酒精性脂肪肝的风险因素。

Laboratory medicine Pub Date : 2024-03-07 DOI: 10.1093/labmed/lmad066

Shadi Nouri, Touraj Mahmoudi, Farzaneh Hojjati, Zeinab Nourmohammadi Najafabadi, Radmehr Shafiee, Shiva Sayedsalehi, Atefeh Dehghanitafti, Abbas Ardalani, Kiarash Kohansal, Gholamreza Rezamand, Asadollah Asadi, Hossein Nobakht, Reza Dabiri, Hamid Farahani, Seidamir Pasha Tabaeian, Mohammad Reza Zali

{"title":"Insulin receptor substrate 2 gene Gly1057Asp polymorphism is a risk factor for nonalcoholic fatty liver disease.","authors":"Shadi Nouri, Touraj Mahmoudi, Farzaneh Hojjati, Zeinab Nourmohammadi Najafabadi, Radmehr Shafiee, Shiva Sayedsalehi, Atefeh Dehghanitafti, Abbas Ardalani, Kiarash Kohansal, Gholamreza Rezamand, Asadollah Asadi, Hossein Nobakht, Reza Dabiri, Hamid Farahani, Seidamir Pasha Tabaeian, Mohammad Reza Zali","doi":"10.1093/labmed/lmad066","DOIUrl":"10.1093/labmed/lmad066","url":null,"abstract":"Objective: Nonalcoholic fatty liver disease (NAFLD), which is an emerging global chronic liver disease, has a close association with insulin resistance. We aimed to determine whether the Gly1057Asp (rs1805097) polymorphism of the insulin receptor substrate 2 (IRS2) gene is associated with NAFLD.Methods: Using the polymerase chain reaction-restriction fragment length polymorphism method, 135 patients with biopsy-proven NAFLD and 135 controls underwent IRS2 genotype analysis.Results: Genotype and allele distributions of the IRS2 gene Gly1057Asp variant conformed to the Hardy-Weinberg equilibrium in both the case and control groups (P > .05). The Asp/Asp genotype of IRS2 gene Gly1057Asp polymorphism compared with Gly/Gly genotype was associated with a 2.1-fold increased risk for NAFLD after adjustment for confounding factors (P = .029; odds ratio = 2.10, 95% CI = 1.23-3.97).Conclusion: Our findings revealed for the first time that the Gly1057Asp Asp/Asp genotype of the IRS2 gene is a marker of increased NAFLD susceptibility; however, studies in other populations are required to confirm the results.","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"215-219"},"PeriodicalIF":0.0,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9853741","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

Droplet digital polymerase chain reaction to measure heteroplasmic m.3243A>G mitochondrial mutations. 用液滴数字聚合酶链反应测量异质 m.3243A>G 线粒体突变。

Laboratory medicine Pub Date : 2024-03-07 DOI: 10.1093/labmed/lmad063

Shinya Matsumoto, Takeshi Uchiumi, Nozomi Noda, Yasushi Ueyanagi, Taeko Hotta, Dongchon Kang

{"title":"Droplet digital polymerase chain reaction to measure heteroplasmic m.3243A>G mitochondrial mutations.","authors":"Shinya Matsumoto, Takeshi Uchiumi, Nozomi Noda, Yasushi Ueyanagi, Taeko Hotta, Dongchon Kang","doi":"10.1093/labmed/lmad063","DOIUrl":"10.1093/labmed/lmad063","url":null,"abstract":"Objective: Different mitochondrial DNA genotypes can coexist in a cell population as well as in a single cell, a condition known as heteroplasmy. Here, we accurately determined the heteroplasmy levels of the m.3243A>G mutation, which is the most frequently identified mutation in patients with mitochondrial diseases, using droplet digital polymerase chain reaction (ddPCR).Methods: The m.3243A>G heteroplasmy levels in artificial heteroplasmy controls mixed with various proportions of wild-type and mutant plasmids were measured using ddPCR, PCR-restriction fragment length polymorphism, and Sanger sequencing. The m.3243A>G heteroplasmy levels in DNA, extracted from the peripheral blood of patients with suspected mitochondrial disease and healthy subjects, were determined using ddPCR.Results: The accuracy of the ddPCR method was high. The lower limit of detection was 0.1%, which indicated its higher sensitivity compared with other methods. The m.3243A>G heteroplasmy levels in peripheral blood, measured using ddPCR, correlated inversely with age at the time of analysis. The m.3243A>G mutation may be overlooked in the peripheral blood-derived DNA of elderly people, as patients >60 years of age have heteroplasmy levels <10%, which is difficult to detect using methods other than the highly sensitive ddPCR.Conclusion: ddPCR may be considered an accurate and sensitive method for measuring m.3243 A>G heteroplasmy levels of mitochondrial DNA.","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"227-233"},"PeriodicalIF":0.0,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10920975/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10227592","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Reactogenicity and Peak Anti-RBD-S1 IgG Concentrations in Individuals with No Prior COVID-19 Infection Vaccinated with Different SARS-CoV-2 Vaccines. 接种不同 SARS-CoV-2 疫苗的未感染过 COVID-19 的个体的反应原性和峰值抗 RBD-S1 IgG 浓度。

Laboratory medicine Pub Date : 2024-03-07 DOI: 10.1093/labmed/lmad044

Lara Milevoj Kopcinovic, Adriana Unic, Nora Nikolac Gabaj, Marijana Miler, Alen Vrtaric, Marija Bozovic, Mario Stefanovic

{"title":"Reactogenicity and Peak Anti-RBD-S1 IgG Concentrations in Individuals with No Prior COVID-19 Infection Vaccinated with Different SARS-CoV-2 Vaccines.","authors":"Lara Milevoj Kopcinovic, Adriana Unic, Nora Nikolac Gabaj, Marijana Miler, Alen Vrtaric, Marija Bozovic, Mario Stefanovic","doi":"10.1093/labmed/lmad044","DOIUrl":"10.1093/labmed/lmad044","url":null,"abstract":"Objective: To investigate the association of immune response with vaccination adverse effects at peak anti-receptor-binding domain spike subunit 1 (anti-RBDS1) IgG after full vaccination with Comirnaty, Spikevax, or Vaxzevria.Methods: Anti-RBDS1 IgG concentrations after vaccination were determined in healthy adults vaccinated with the Comirnaty, Spikevax, and Vaxzevria vaccines. The association of reactogenicity and peak antibody response after vaccination was tested.Results: Anti-RBDS1 IgG values were significantly higher in the Comirnaty and Spikevax group, compared with the Vaxzevria group (P < .001). Fever and muscle pain were found to be significant independent predictors of peak anti-RBDS1 IgG in the Comirnaty and Spikevax groups (P = .03 and P = .02, respectively). The multivariate model, adjusted for covariates, showed that no association between reactogenicity and peak antibody concentrations was found in the Comirnaty, Spikevax, and Vaxzevria groups.Conclusions: No association between reactogenicity and peak anti-RBDS1 IgG after vaccination with the Comirnaty, Spikevax, and Vaxzevria vaccine was found.","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"162-168"},"PeriodicalIF":0.0,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9597821","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 microbiological diagnostic performance of metagenomic next-generation sequencing in patients with infectious diseases. 元基因组下一代测序在传染病患者中的微生物诊断性能。

Laboratory medicine Pub Date : 2024-03-07 DOI: 10.1093/labmed/lmad046

Lei Yuan, Qing Zhu, Qiang Chen, Lan Min Lai, Peng Liu, Yang Liu

{"title":"The microbiological diagnostic performance of metagenomic next-generation sequencing in patients with infectious diseases.","authors":"Lei Yuan, Qing Zhu, Qiang Chen, Lan Min Lai, Peng Liu, Yang Liu","doi":"10.1093/labmed/lmad046","DOIUrl":"10.1093/labmed/lmad046","url":null,"abstract":"Objective: Metagenomic next-generation sequencing (mNGS) can be used to detect pathogens in clinical infectious diseases through the sequencing analysis of microbial and host nucleic acids in clinical samples. This study aimed to assess the diagnostic performance of mNGS in patients with infections.Methods: In this study, 641 patients with infectious diseases were enrolled. These patients simultaneously underwent pathogen detection by both mNGS and microbial culture. Through statistical analysis, we judged the diagnostic performance of mNGS and microbial culture on different pathogens.Results: Among 641 patients, 276 cases of bacteria and 95 cases of fungi were detected by mNGS, whereas 108 cases of bacteria and 41 cases of fungi were detected by traditional cultures. Among all mixed infections, combined bacterial and viral infections were the highest (51%, 87/169), followed by combined bacterial with fungal infections (16.57%, 28/169) and mixed bacterial, fungal, and viral infections (13.61%, 23/169). Among all sample types, bronchoalveolar lavage fluid (BALF) samples had the highest positive rate (87.8%, 144/164), followed by sputum (85.4%, 76/89) and blood samples (61.2%, 158/258). For the culture method, sputum samples had the highest positive rate (47.2%, 42/89), followed by BALF (37.2%, 61/164). The positive rate of mNGS was 69.89% (448/641), which was significantly higher than that of traditional cultures (22.31% [143/641]) (P < .05).Conclusions: Our results show that mNGS is an effective tool for the rapid diagnosis of infectious diseases. Compared with traditional detection methods, mNGS also showed obvious advantages in mixed infections and infections with uncommon pathogens.","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"132-139"},"PeriodicalIF":0.0,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9598909","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 identification of diurnal variations on circulating immune cells by finger prick blood sampling in small sample sizes: a pilot study. 通过小样本量手指刺血采样识别循环免疫细胞的昼夜变化：一项试点研究。

Laboratory medicine Pub Date : 2024-03-07 DOI: 10.1093/labmed/lmad062

Dayna Bushell, Jonathan Kah Huat Tan, Jessica Smith, Christian Moro

{"title":"The identification of diurnal variations on circulating immune cells by finger prick blood sampling in small sample sizes: a pilot study.","authors":"Dayna Bushell, Jonathan Kah Huat Tan, Jessica Smith, Christian Moro","doi":"10.1093/labmed/lmad062","DOIUrl":"10.1093/labmed/lmad062","url":null,"abstract":"Objective: There are well-described impacts of biological rhythms on human physiology. With the increasing push for routine blood tests for preventative medical care and clinical and physiological research, optimizing effectiveness is paramount. This study aimed to determine whether it is feasible to assess diurnal variations of peripheral lymphocyte prevalence using finger prick blood in a small sample size.Methods: Using polychromatic flow cytometry, the prevalence of lymphocytes was assessed using 25 µL fingertip blood samples at 8 AM and 5 PM from 8 participants.Results: TH cells and B cells showed significantly higher percentages in the 5 PM samples, whereas NK cells demonstrated a significantly higher morning percentage. T cells, leukocytes, and cytotoxic T cells showed no significant changes.Conclusion: The detection of diurnal variations demonstrates that small blood volumes can be used to detect lymphocyte variations. The lower blood volume required provides a new testing method for clinical and research settings.","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"220-226"},"PeriodicalIF":0.0,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10920974/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10208869","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A comprehensive assessment of redox balance in small for gestational age newborns and their mothers. 全面评估胎龄小新生儿及其母亲的氧化还原平衡。

Laboratory medicine Pub Date : 2024-03-07 DOI: 10.1093/labmed/lmad065

Almila Senat, Emre Erdem Tas, Hasan Eroglu, Ceylan Bal, Ayse Filiz Yavuz, Aykan Yucel, Ozcan Erel, Arzu Ersoz

{"title":"A comprehensive assessment of redox balance in small for gestational age newborns and their mothers.","authors":"Almila Senat, Emre Erdem Tas, Hasan Eroglu, Ceylan Bal, Ayse Filiz Yavuz, Aykan Yucel, Ozcan Erel, Arzu Ersoz","doi":"10.1093/labmed/lmad065","DOIUrl":"10.1093/labmed/lmad065","url":null,"abstract":"Objective: The objective of this study was to assess oxidative stress in small for gestational age (SGA) newborns and their mothers by evaluating intra- and extracellular thiol homeostasis and the quantification of major oxidants and antioxidants.Methods: A total of 75 mothers and their 75 newborns (43 SGA) were enrolled in this study. Thiol-disulfide homeostasis, serum myeloperoxidase, catalase, total oxidant, and antioxidant status were analyzed. Additionally, erythrocytic glutathione (GSH) homeostasis was measured.Results: Although native and total thiol levels were decreased, disulfide levels were increased in SGA groups. Additionally, myeloperoxidase activity and total oxidant status levels were significantly elevated whereas total antioxidant status levels and enzymatic antioxidant systems were diminished in SGA groups. Similarly, intra-erythrocytic GSH homeostasis was shifted in favor of oxidants in SGA groups.Conclusion: Our results demonstrate that insufficient antioxidant systems in mothers and a robust source of oxidative stress in SGA might contribute to the pathophysiology of SGA births.","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"209-214"},"PeriodicalIF":0.0,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9937624","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

Neutrophilic Myeloid-Derived Suppressor Cells and Severity in SARS-CoV-2 Infection. 中性髓系抑制细胞与 SARS-CoV-2 感染的严重程度

Laboratory medicine Pub Date : 2024-03-07 DOI: 10.1093/labmed/lmad050

Mona A Omar, Rabab El Hawary, Alia Eldash, Khaled M Sadek, Neveen A Soliman, Mariam Onsy F Hanna, Shereen M Shawky

{"title":"Neutrophilic Myeloid-Derived Suppressor Cells and Severity in SARS-CoV-2 Infection.","authors":"Mona A Omar, Rabab El Hawary, Alia Eldash, Khaled M Sadek, Neveen A Soliman, Mariam Onsy F Hanna, Shereen M Shawky","doi":"10.1093/labmed/lmad050","DOIUrl":"10.1093/labmed/lmad050","url":null,"abstract":"Background: While we strive to live with SARS-CoV-2, defining the immune response that leads to recovery rather than severe disease remains highly important. COVID-19 has been associated with inflammation and a profoundly suppressed immune response.Objective: To study myeloid-derived suppressor cells (MDSCs), which are potent immunosuppressive cells, in SARS-CoV-2 infection.Results: Patients with severe and critical COVID-19 showed higher frequencies of neutrophilic (PMN)-MDSCs than patients with moderate illness and control individuals (P = .005). Severe disease in individuals older and younger than 60 years was associated with distinct PMN-MDSC frequencies, being predominantly higher in patients of 60 years of age and younger (P = .004). However, both age groups showed comparable inflammatory markers. In our analysis for the prediction of poor outcome during hospitalization, MDSCs were not associated with increased risk of death. Still, patients older than 60 years of age (odds ratio [OR] = 5.625; P = .02) with preexisting medical conditions (OR = 2.818; P = .003) showed more severe disease and worse outcome. Among the immunological parameters, increased C-reactive protein (OR = 1.015; P = .04) and lymphopenia (OR = 5.958; P = .04) strongly identified patients with poor prognosis.Conclusion: PMN-MDSCs are associated with disease severity in COVID-19; however, MDSC levels do not predict increased risk of death during hospitalization.","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"153-161"},"PeriodicalIF":0.0,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10035365","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

A meta-analysis of the accuracy of Xpert MTB/RIF in diagnosing intestinal tuberculosis. Xpert MTB/RIF 诊断肠结核准确性的荟萃分析。

Laboratory medicine Pub Date : 2024-03-07 DOI: 10.1093/labmed/lmad072

Yuan-Lin Ding, Rui-Chao Yan, Hao-Kai Chen, Xu-Guang Guo

{"title":"A meta-analysis of the accuracy of Xpert MTB/RIF in diagnosing intestinal tuberculosis.","authors":"Yuan-Lin Ding, Rui-Chao Yan, Hao-Kai Chen, Xu-Guang Guo","doi":"10.1093/labmed/lmad072","DOIUrl":"10.1093/labmed/lmad072","url":null,"abstract":"Objective: A detection method with high efficiency and accuracy is urgently needed in clinical work. The purpose of our study was to determine the diagnostic accuracy of the Xpert MTB/RIF assay for intestinal tuberculosis (ITB).Methods: We searched PubMed and 4 other databases from their establishment to July 19, 2022, for published essays of diagnostic performance in which Xpert MTB/RIF was used to test patients with clinically suspected ITB. An assessment of the quality of the selected literature was conducted using QUADAS-2. We built forest plots by MetaDiSc software.Results: The pooled Xpert MTB/RIF sensitivity was 48%, and the specificity was 99%. Moreover, the positive likelihood ratio for ITB diagnosis was 21.61. The negative likelihood ratio was 0.54. There were substantial variations between the study estimates of sensitivity (I2 = 87.6%) and specificity (I2 = 82.4%).Conclusion: Intestinal TB is detected with limited diagnostic sensitivity by Xpert MTB/RIF but with high specificity. An Xpert-positive result may facilitate the rapid identification of ITB cases. Nevertheless, a negative result has less certainty in excluding the disease.","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"238-244"},"PeriodicalIF":0.0,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10231678","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