Laboratory medicine最新文献_第2页

Identification of cobra and viper bites in southern India using enzyme-linked immunosorbent assay. 用酶联免疫吸附法鉴定印度南部眼镜蛇和毒蛇咬伤。

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Laboratory medicine Pub Date : 2025-09-08 DOI: 10.1093/labmed/lmae119

Tejeswara Rao Asuru, Raskin Erusan Rajagopal, Albert Rajendran, Gulistan Parveen, Anushka Das, Pabitha Devi, Swapan K Dasgupta, Shantaraman Kalyanaraman, Prasenjit Guchhait, Perumal Thiagarajan

{"title":"Identification of cobra and viper bites in southern India using enzyme-linked immunosorbent assay.","authors":"Tejeswara Rao Asuru, Raskin Erusan Rajagopal, Albert Rajendran, Gulistan Parveen, Anushka Das, Pabitha Devi, Swapan K Dasgupta, Shantaraman Kalyanaraman, Prasenjit Guchhait, Perumal Thiagarajan","doi":"10.1093/labmed/lmae119","DOIUrl":"10.1093/labmed/lmae119","url":null,"abstract":"Introduction: Snakebite-related deaths are major concerns in populations worldwide that lack access to medical care. Current treatment of snakebites includes administration of polyspecific and polyvalent heterologous equine antiserum. Swift diagnosis of the species of snake responsible is essential to initiate a specific treatment.Methods: We generated murine monoclonal and rabbit polyclonal antibodies against the venom of the 3 most common venomous snakes in southern India: the Russell viper, the saw-scaled viper, and the Indian cobra. We developed an enzyme-linked immunosorbent assay to distinguish the snake by analyzing the exudates from the snakebite wound.Results: Monoclonal antibody EC3 reacts specifically with a 45- to 50-kDa venom protein of the saw-scaled viper, antibody NNH6 reacts with 12-kDa venom protein of the Indian cobra, and antibody RVV20 reacts with a 16-kDa venom protein of the Russell viper. We tested the exudates from snakebite wounds in 24 consecutive patients admitted to the Tirunelveli Medical College Hospital with snakebite. Our assay detected 18 patients with Russell viper bite and 1 each for cobra and saw-scaled viper.Discussion: Our study shows the feasibility of an enzyme-linked immunosorbent assay-based method to identify the 3 major venomous snakes in southern India and holds promise for prompt administration of snake-specific and mechanism-based treatment.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"478-483"},"PeriodicalIF":1.0,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12417070/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143733724","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}

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Evaluation of a targeted next-generation sequencing-based CYP2D6 genotyping method compared with Sanger sequencing and multiplex ligation-dependent probe amplification. 新一代CYP2D6基因分型方法与Sanger测序和多重连接探针扩增的比较

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Laboratory medicine Pub Date : 2025-09-08 DOI: 10.1093/labmed/lmae115

Won-Kyu Choi, Hyun-Ki Kim, Sollip Kim, Woochang Lee, Sail Chun

{"title":"Evaluation of a targeted next-generation sequencing-based CYP2D6 genotyping method compared with Sanger sequencing and multiplex ligation-dependent probe amplification.","authors":"Won-Kyu Choi, Hyun-Ki Kim, Sollip Kim, Woochang Lee, Sail Chun","doi":"10.1093/labmed/lmae115","DOIUrl":"10.1093/labmed/lmae115","url":null,"abstract":"Introduction: CYP2D6 genotyping can guide the appropriate prescription of related drugs, but its complex genetic alterations make clinical implementation challenging. In this study, we evaluated the performance of a custom-made, targeted next-generation sequencing (NGS)-based CYP2D6 genotyping method by comparing it with Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) methods.Methods: CYP2D6 was included in a customized NGS multigene panel. CYP2D6 genotypes were analyzed in 91 patients, including copy number variations (CNV) analysis based on read depth. For comparison, single-nucleotide variations (formerly single-nucleotide polymorphisms) and CNVs were assessed using Sanger sequencing and MLPA, and the genotype was determined. Differences in genotype and predicted phenotype according to these 2 approaches were evaluated.Results: The NGS-based results were 100% concordant in single-nucleotide variations compared with Sanger sequencing, but 4 cases (4.4%) were discordant in CNVs with MLPA. Consequently, the NGS-based genotype was 95.6% concordant with the combined Sanger sequencing and MLPA approach. However, the classification of the predicted phenotype was unchanged in the 4 cases with differing assigned genotypes.Discussion: The NGS-based CYP2D6 genotyping method showed good performance, suggesting its potential utility in clinical practice. Including CYP2D6 in an NGS panel for patients who may use drugs metabolized by CYP2D6 may provide additional useful information.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"454-459"},"PeriodicalIF":1.0,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143733719","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

Markedly elevated serum level of presepsin in agranulocytosis with hematologic malignancy: A potential prognostic factor in a single-institution retrospective study after granulocyte transfusion. 粒细胞缺乏症合并血液学恶性肿瘤患者血清高血压素水平显著升高：粒细胞输注后单机构回顾性研究中的一个潜在预后因素。

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Laboratory medicine Pub Date : 2025-09-08 DOI: 10.1093/labmed/lmae118

Takuya Fukumi, Keiko Fujii, Wataru Kitamura, Kazuhiro Ikeuchi, Naomi Asano, Akira Yamamoto, Hiroki Kobayashi, Takumi Kondo, Keisuke Seike, Hideaki Fujiwara, Noboru Asada, Daisuke Ennishi, Ken-Ichi Matsuoka, Fumio Otsuka, Yoshinobu Maeda, Nobuharu Fujii

{"title":"Markedly elevated serum level of presepsin in agranulocytosis with hematologic malignancy: A potential prognostic factor in a single-institution retrospective study after granulocyte transfusion.","authors":"Takuya Fukumi, Keiko Fujii, Wataru Kitamura, Kazuhiro Ikeuchi, Naomi Asano, Akira Yamamoto, Hiroki Kobayashi, Takumi Kondo, Keisuke Seike, Hideaki Fujiwara, Noboru Asada, Daisuke Ennishi, Ken-Ichi Matsuoka, Fumio Otsuka, Yoshinobu Maeda, Nobuharu Fujii","doi":"10.1093/labmed/lmae118","DOIUrl":"10.1093/labmed/lmae118","url":null,"abstract":"Introduction: No established criteria exist for assessing the effectiveness of granulocyte transfusion (GTX) or biomarkers for predicting fatal infections in neutropenia. This study aimed to assess whether a novel sepsis marker, presepsin (P-SEP), is a useful prognostic indicator during GTX.Methods: We collected frozen serum from 8 patients who had undergone GTX between September 2022 and October 2023 and measured their P-SEP levels. We compared these results with clinical records and assessed the alterations before and after GTX and their association with prognosis.Results: The post-transfusion neutrophil count increased in all cases. In 5 of 8 patients (62.5%), P-SEP levels were reduced 1 day after GTX. Pretransfusion P-SEP levels were statistically significantly lower in the group of patients who survived and overcame infection after transfusion (GTX-survived) than in the group of patients who did not survive (GTX-nonsurvived) (1493 pg/mL vs 6658 pg/mL, P =.04). Transfused cell counts and changes in P-SEP levels 1 day after GTX were better in the GTX-survived group than in the GTX-nonsurvived group, although the difference was not statistically significant.Discussion: Presepsin is a biomarker that can be assessed in patients undergoing GTX for agranulocytosis. A clinically significant increase in P-SEP levels before GTX may indicate ineffective GTX and an unfavorable prognosis.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"469-477"},"PeriodicalIF":1.0,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12417075/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143733657","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}

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Correction to: Common RBC antigens in O type Tunisian blood donors and their importance in alloimmunization. 更正：O型突尼斯献血者的常见红细胞抗原及其在同种异体免疫中的重要性。

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Laboratory medicine Pub Date : 2025-09-08 DOI: 10.1093/labmed/lmaf012

引用次数: 0

Revisiting the value of dynamic assessment of postoperative C-reactive protein for early diagnosis of anastomotic fistulas in colorectal surgery with ileostomy. 重新探讨术后c反应蛋白动态评估对结直肠回造口术后吻合口瘘早期诊断的价值。

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Laboratory medicine Pub Date : 2025-09-08 DOI: 10.1093/labmed/lmae116

Vasile Bintintan, Vlad Fagarasan, Katya Schimt, Tamas Ruzs-Fogarasi, Giorgiana Fagarasan, Andreea Cordos, Raluca-Cristina Ailioaie, Alexandru Ilie-Ene, Adriana Bintintan, Mihaela Mocan, Razvan Popescu, Ionut Negoi, Iulia Lupan, George-Calin Dindelegan, Gabriel Samasca

{"title":"Revisiting the value of dynamic assessment of postoperative C-reactive protein for early diagnosis of anastomotic fistulas in colorectal surgery with ileostomy.","authors":"Vasile Bintintan, Vlad Fagarasan, Katya Schimt, Tamas Ruzs-Fogarasi, Giorgiana Fagarasan, Andreea Cordos, Raluca-Cristina Ailioaie, Alexandru Ilie-Ene, Adriana Bintintan, Mihaela Mocan, Razvan Popescu, Ionut Negoi, Iulia Lupan, George-Calin Dindelegan, Gabriel Samasca","doi":"10.1093/labmed/lmae116","DOIUrl":"10.1093/labmed/lmae116","url":null,"abstract":"Introduction: Anastomotic fistula is the most feared complication in colorectal surgery. It requires early diagnosis followed by urgent treatment. In this study, we analyzed the dynamics of C-reactive protein (CRP) as a marker for early detection of anastomotic fistula.Methods: A prospective study was conducted among 83 patients who underwent colorectal resection with anastomosis at the First Surgical Department, County Emergency University Clinical Hospital, Cluj Napoca, Romania. The CRP and leukocyte values were recorded at admission and on postoperative days 3, 5, 7, and 9. Total serum protein values were measured on postoperative days 3, 5, and 7, and albumin values were measured on postoperative day 3.Results: Only CRP values showed substantial postoperative variations. At postoperative days 3, 5, and 7, serum CRP levels in patients with anastomotic fistula were higher than those in patients without anastomotic fistula, with differences at postoperative days 5 (P <.001) and 7 (P <.001) being statistically significant.Discussion: A steady decrease in CRP values after postoperative day 3 is a strong sign that the development of anastomotic fistula is unlikely. An increase or a flat decrease in CRP value at postoperative days 5 and 7 with a serum value at or close to 100 mg/L suggests an increased probability for development of anastomotic fistula.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"448-453"},"PeriodicalIF":1.0,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144056156","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

Heparin resistance in a patient with severe acute pancreatitis: a case report. 严重急性胰腺炎患者肝素耐药1例报告。

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Laboratory medicine Pub Date : 2025-09-08 DOI: 10.1093/labmed/lmae126

Dai Rongqin, Bai Zhexin, Liu Yuzhi, Guo Zhenbin, Zhang Jinbiao

{"title":"Heparin resistance in a patient with severe acute pancreatitis: a case report.","authors":"Dai Rongqin, Bai Zhexin, Liu Yuzhi, Guo Zhenbin, Zhang Jinbiao","doi":"10.1093/labmed/lmae126","DOIUrl":"10.1093/labmed/lmae126","url":null,"abstract":"Introduction: Severe acute pancreatitis is a life-threatening condition characterized by systemic inflammatory response syndrome and an increased risk of complications such as venous thrombosis, all of which contributes to a high mortality rate. Heparin resistance, although rare, can lead to ineffective anticoagulation and thrombus formation during unfractionated heparin therapy, complicating management.Methods: We report a case of heparin resistance in which, despite increasing the unfractionated heparin dosage, the patient's activated partial thromboplastin time remained subtherapeutic.Results: Laboratory findings indicated normal antithrombin levels but undetectable anti-Xa activity, confirming non-antithrombin-mediated heparin resistance. A multidisciplinary approach led to the successful management of thrombosis with rivaroxaban, resulting in substantial clinical improvement.Discussion: This case highlights the importance of early recognition and management of heparin resistance in patients with severe acute pancreatitis. Combined monitoring of activated partial thromboplastin time and anti-Xa activity is crucial for optimizing anticoagulation therapy and preventing complications such as deep vein thrombosis.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"570-576"},"PeriodicalIF":1.0,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12417076/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144056066","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}

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New formula based on the discrepancy between impedance and fluorescence platelet to distinguish iron-deficiency anemia from non-transfusion-dependent thalassemia. 基于阻抗和荧光血小板差异的新公式区分缺铁性贫血和非输血依赖性地中海贫血。

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Laboratory medicine Pub Date : 2025-09-08 DOI: 10.1093/labmed/lmaf009

Chanjuan Wang, Jinbiao Wu, Yiting Feng

{"title":"New formula based on the discrepancy between impedance and fluorescence platelet to distinguish iron-deficiency anemia from non-transfusion-dependent thalassemia.","authors":"Chanjuan Wang, Jinbiao Wu, Yiting Feng","doi":"10.1093/labmed/lmaf009","DOIUrl":"10.1093/labmed/lmaf009","url":null,"abstract":"Introduction: Iron-deficiency anemia (IDA) and non-transfusion-dependent thalassemia (NTDT) are the 2 most common types of microcytic hypochromic anemia, but they are difficult to distinguish by routine tests. It is reported that red blood cells (RBCs) in thalassemia tend to be more microcytic and polymorphic, which may interfere with impedance platelet count (PLT-I). To correct PLT-I, fluorescence platelet count (PLT-F) can be used.Methods: To establish a new discriminant formula based on the discrepancy between PLT-I and PLT-F (dPLT), this study retrospectively reviewed 350 patients: 145 with IDA and 205 with NTDT. The RBC and platelet parameters were obtained on a Sysmex XN-9000 system. Univariable and multivariable regression analyses were performed to screen the indicators. Diagnostic efficacy was analyzed using receiver operating characteristic curves.Results: We found that the interference with PLT-I by RBCs was greater in patients with NTDT. The dPLT of patients with NTDT was statistically significantly higher than that of patients with IDA. Based on erythrocyte indices and dPLT, the diagnosis model, called PRMH (a model incorporating platelet difference, RBC count, mean corpuscular hemoglobin concentration, and hematocrit), was established.Discussion: When compared with 11 reported formulas, the PRMH model showed better diagnostic efficacy, with a sensitivity of 88% and a specificity of 87%. Hence, the PRMH model can be used to distinguish NTDT from IDA.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"522-527"},"PeriodicalIF":1.0,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144056207","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 24-year-old man taking PrEP with unusual syphilis test results. 一名24岁男子服用PrEP，梅毒检测结果异常。

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Laboratory medicine Pub Date : 2025-09-08 DOI: 10.1093/labmed/lmae114

Marika L Forsythe, Hong-Kee Lee

{"title":"A 24-year-old man taking PrEP with unusual syphilis test results.","authors":"Marika L Forsythe, Hong-Kee Lee","doi":"10.1093/labmed/lmae114","DOIUrl":"10.1093/labmed/lmae114","url":null,"abstract":"Introduction: The antiretroviral regime emtricitabine-tenofovir disoproxil fumarate (Truvada [Gilead Sciences]) is a type of pre-exposure prophylaxis (PrEP) therapy used for the prevention and management of HIV infections. This protection, however, cannot be applied to other sexually transmitted infections (STIs), with many studies observing an increase in STI rates among individuals using PrEP.Methods: A 24-year-old man who had recently started PrEP with emtricitabine-tenofovir disoproxil fumarate was found to have a clinically significant elevation in syphilis total antibody count on STI screening, but his rapid plasma reagin (RPR) and Treponema pallidum particle agglutination (TP-PA) results remained negative. The patient was subsequently treated for a syphilis infection.Results: Post-treatment testing showed a negative syphilis total antibody result. The patient was suspected to have undergone treponemal antibody seroreversion, a rare but previously documented phenomenon following successful treatment.Discussion: This case highlights the possible effect of PrEP on the immune system, requiring closer surveillance to prevent acquisition of other STIs.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"550-553"},"PeriodicalIF":1.0,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143744669","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

Detection of antinuclear antibodies: a survey done by the European Organsation for External Quality Assurance Providers in Laboratory Medicine. 抗核抗体的检测：一项由欧洲实验室医学外部质量保证提供者组织完成的调查。

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Laboratory medicine Pub Date : 2025-09-08 DOI: 10.1093/labmed/lmaf011

Dina Patel, Stéphanie Albarède, Werner Klotz, Annechien J A Lambeck, Lucile Musset, Zoe Vayanos, Manfred Herold

{"title":"Detection of antinuclear antibodies: a survey done by the European Organsation for External Quality Assurance Providers in Laboratory Medicine.","authors":"Dina Patel, Stéphanie Albarède, Werner Klotz, Annechien J A Lambeck, Lucile Musset, Zoe Vayanos, Manfred Herold","doi":"10.1093/labmed/lmaf011","DOIUrl":"10.1093/labmed/lmaf011","url":null,"abstract":"Introduction: A questionnaire was sent to immunology laboratories worldwide by the European Organisation for External Quality Assurance Providers in Laboratory Medicine to evaluate current practice with regard to how antinuclear antibodies (ANAs) are routinely tested in clinical laboratories.Methods: In total, 494 questionnaires were returned from 44 countries. Of these, 379 provided sufficient information to be included in the analysis.Results: Indirect immunofluorescence on HEp-2 cells is still the most common method to test ANAs and is used by 330 of our 379 respondents. The most common (60%) screening dilution is 1:80, followed by 1:160 (15%) and, in equal amounts, 1:40 and 1:100 (8% each). In most laboratories, ANA-positive samples are further diluted to an end titer of 1:1280 (40%), 1:2560 (21%), 1:5120 (16%), or 1:640 (19%). An increasing number of laboratories (178/330) use the International Consensus on ANA Patterns (ICAP) nomenclature to describe the immunofluorescence pattern on HEp-2 cells. In countries with the most respondents, the percentage of laboratories accredited to EN International Organization for Standardization (ISO) 15189 (in Britain, BS EN ISO 15189, which is a British standard as well as a European standard as well as an ISO standard with identical content) is between 8% (Belgium) and 60% (France). There was no difference in the portion of accredited laboratories between university hospitals, nonuniversity hospitals, and private laboratories.Discussion: Indirect immunofluorescence continues to be the most frequently used technique for ANA testing in laboratories. The increasing number of laboratories using the ICAP classification reflects an ongoing harmonization of describing ANA patterns on HEp-2 cell substrates.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"528-535"},"PeriodicalIF":1.0,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144040233","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

Optimized efficient screening for Duchenne muscular dystrophy carriers using proto-oncogene tyrosine-protein kinase receptor Ret. 利用原癌基因酪氨酸-蛋白激酶受体Ret筛选杜氏肌营养不良携带者。

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Laboratory medicine Pub Date : 2025-09-08 DOI: 10.1093/labmed/lmae127

Dongyang Hong, Zhilei Zhang, Yun Sun, Xin Wang, Peiying Yang, Tao Jiang, Bin Yu

{"title":"Optimized efficient screening for Duchenne muscular dystrophy carriers using proto-oncogene tyrosine-protein kinase receptor Ret.","authors":"Dongyang Hong, Zhilei Zhang, Yun Sun, Xin Wang, Peiying Yang, Tao Jiang, Bin Yu","doi":"10.1093/labmed/lmae127","DOIUrl":"10.1093/labmed/lmae127","url":null,"abstract":"Introduction: Duchenne muscular dystrophy (DMD) is a severe genetic disorder affecting 5% to 19% of carriers. Creatine kinase (CK) is a traditional biomarker for DMD, but its screening accuracy is limited. This study evaluated the potential of combining the proto-oncogene tyrosine-protein kinase receptor Ret (RET) with CK-MM to enhance screening efficacy.Methods: Creatine kinase-MM and RET levels were analyzed in 14 adult and 5 newborn carriers of DMD, along with noncarrier control individuals. The CK-MM/RET ratio was calculated, and a receiver operating characteristic curve analysis evaluated biomarker screening efficiency. Methods for extracting RET from dried blood spots (DBSs) were compared with correlations between DBSs and serum RET levels and stability under varying storage conditions.Results: Carriers of DMD exhibited elevated CK-MM and CK-MM/RET ratios with reduced RET. The CK-MM/RET ratio had the highest screening efficiency. Extraction of RET was optimal using Diluent C at 4 °C overnight, showing a strong DBS-serum correlation; RET remained stable, except under high humidity and temperature conditions.Discussion: Combining RET with CK-MM enhances DMD carrier screening, offering a more efficient DBS-based method for early detection.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"490-499"},"PeriodicalIF":1.0,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144029863","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