{"title":"Association Between Clonal Hematopoiesis of Indeterminate Potential and Brain β-Amyloid Deposition in Korean Patients With Cognitive Impairment.","authors":"Jiwon Yun, Young Chul Youn, Hye Ryoun Kim","doi":"10.3343/alm.2024.0086","DOIUrl":"10.3343/alm.2024.0086","url":null,"abstract":"<p><p>Few studies have focused on the association between clonal hematopoiesis of indeterminate potential (CHIP) and β-amyloid (Aβ) deposition in the brain, which causes Alzheimer's disease. We aimed to investigate the potential role of CHIP in brain Aβ deposition in Korean patients. We enrolled 58 Korean patients over 50 yrs of age with cognitive impairment who underwent brain Aβ positron emission tomography. We explored CHIP in their peripheral blood using deep-targeted next-generation sequencing. Irrespective of the presence or absence of brain Aβ deposition, mutations in <i>DNMT3A</i> and the C:G>T:A single-nucleotide variants were identified as the primary characteristics, which reflect aged hematopoiesis in the study population. Multivariate logistic regression revealed that the presence of CHIP was not associated with brain Aβ deposition. As both CHIP and brain Aβ deposition are associated with aging, further research is required to elucidate their possible interplay.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"576-580"},"PeriodicalIF":4.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11375198/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141157247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tae-Shin Kim, Inseong Oh, Yu Jung Choi, Minjeong Nam, Hajeong Lee, Eun Young Song
{"title":"Effects of Various Concentrations of Pronase on Flow Cytometric Crossmatching Patients Treated With Rituximab and Donor HLA-Specific Antibodies.","authors":"Tae-Shin Kim, Inseong Oh, Yu Jung Choi, Minjeong Nam, Hajeong Lee, Eun Young Song","doi":"10.3343/alm.2024.0132","DOIUrl":"10.3343/alm.2024.0132","url":null,"abstract":"<p><strong>Background: </strong>Pronase pretreatment can reduce rituximab (RTX) interference by degrading CD20 in B-cell flow cytometry crossmatch (FCXM) testing. However, it may also reduce the assay sensitivity by degrading HLA molecules. We investigated the effects of various pronase concentrations on RTX interference and the analytical sensitivity of B-cell FCXM testing.</p><p><strong>Methods: </strong>Using 59 patient serum samples and 38 donor lymphocyte samples, we designed 97 recipient-donor pairs and divided them into three groups according to RTX use and the presence of weak-to-moderate donor HLA-specific antibody (DSA) reactions: RTX+/DSA-, RTX+/DSA+, and RTX-/DSA+. FCXM was performed after pretreating lymphocytes with six different pronase concentrations (0, 0.5, 1, 2, 3, and 4 mg/mL).</p><p><strong>Results: </strong>With B-FCXM testing, false-positive results due to RTX in the RTX+/DSA- group markedly decreased with increasing pronase concentrations. The median channel shift values in the RTX+/DSA+ and RTX-/DSA+ groups did not significantly decrease when the pronase concentration was increased from 1 mg/mL to 2 or 3 mg/mL. All eight RTX+/DSA+ cases that were positive at 1 mg/mL pronase but negative at 2 or 3 mg/mL had mean fluorescence intensity (MFI) DSA values of less than 3,000 except for DQ5 (MFI: 5,226). With T-cell FCXM, false-positive results were observed in 2.9% of 315 FCXM tests with pronase pretreatment.</p><p><strong>Conclusions: </strong>Higher concentrations (2 or 3 mg/mL) of pronase effectively eliminated RTX interference but still carried a risk for false negativity for weak DSA reactions in B-cell FCXM. Higher pronase concentrations can be used as an auxiliary method to detect moderate-to-strong DSA reactions in RTX-treated patients.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"545-552"},"PeriodicalIF":4.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11375205/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141589527","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Paola Concolino, Elisa De Paolis, Martina Rinelli, Giulia Maneri, Francesca Brisighelli, Rita Trozzi, Simona Duranti, Luciano Giacò, Maria Piane, Alessia Preziosi, Arianna Panfili, Giovanni Scambia, Camilla Nero, Maria De Bonis, Angelo Minucci
{"title":"Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in <i>BRCA1</i> Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay.","authors":"Paola Concolino, Elisa De Paolis, Martina Rinelli, Giulia Maneri, Francesca Brisighelli, Rita Trozzi, Simona Duranti, Luciano Giacò, Maria Piane, Alessia Preziosi, Arianna Panfili, Giovanni Scambia, Camilla Nero, Maria De Bonis, Angelo Minucci","doi":"10.3343/alm.2024.0051","DOIUrl":"10.3343/alm.2024.0051","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"617-620"},"PeriodicalIF":4.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11375183/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141199426","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Bosung Park, Hye Won Park, Hyun Jung Park, Eun Jeong Won, Heungsup Sung, Mi-Na Kim
{"title":"An Unexpected Encounter During a Screening Colonoscopy in a Medical Tourist: A Diagnosis of <i>Hymenolepis nana</i> Infection.","authors":"Bosung Park, Hye Won Park, Hyun Jung Park, Eun Jeong Won, Heungsup Sung, Mi-Na Kim","doi":"10.3343/alm.2024.0167","DOIUrl":"10.3343/alm.2024.0167","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"608-610"},"PeriodicalIF":4.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11375206/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141733451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Comment on \"Ionized Magnesium Correlates With Total Blood Magnesium in Pediatric Patients Following Kidney Transplant\".","authors":"Naveen Bangia, Dennis Begos, Bogdan Milojkovic","doi":"10.3343/alm.2024.0153","DOIUrl":"10.3343/alm.2024.0153","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"598-599"},"PeriodicalIF":4.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11375192/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142003493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Young Kyu Min, Jae Kyung Kim, Kyung Sun Park, Jong-Won Kim
{"title":"Evaluation of Droplet Digital PCR for the Detection of <i>BRAF</i> V600E in Fine-Needle Aspiration Specimens of Thyroid Nodules.","authors":"Young Kyu Min, Jae Kyung Kim, Kyung Sun Park, Jong-Won Kim","doi":"10.3343/alm.2023.0405","DOIUrl":"10.3343/alm.2023.0405","url":null,"abstract":"<p><strong>Background: </strong>Droplet digital (dd)PCR is a new-generation PCR technique with high precision and sensitivity; however, the positive and negative droplets are not always effectively separated because of the \"rain\" phenomenon. We aimed to develop a practical optimization and evaluation process for the ddPCR assay and to apply it to the detection of <i>BRAF</i> V600E in fine-needle aspiration (FNA) specimens of thyroid nodules, as an example.</p><p><strong>Methods: </strong>We optimized seven ddPCR parameters that can affect \"rain.\" Analytical and clinical performance were analyzed based on histological diagnosis after thyroidectomy using a consecutive prospective series of 242 FNA specimens.</p><p><strong>Results: </strong>The annealing time and temperature, number of PCR cycles, and primer and probe concentrations were found to be more important considerations for assay optimization than the denaturation time and ramp rate. The limit of blank and 95% limit of detection were 0% and 0.027%, respectively. The sensitivity of ddPCR for histological papillary thyroid carcinoma (PTC) was 82.4% (95% confidence interval [CI], 73.6%-89.2%). The pooled sensitivity of <i>BRAF</i> V600E in FNA specimens for histological PTC was 78.6% (95% CI, 75.9%-81.2%, I<sup>2</sup>=60.6%).</p><p><strong>Conclusions: </strong>We present a practical approach for optimizing ddPCR parameters that affect the separation of positive and negative droplets to reduce rain. Our approach to optimizing ddPCR parameters can be expanded to general ddPCR assays for specific mutations in clinical laboratories. The highly sensitive ddPCR can compensate for uncertainty in cytological diagnosis by detecting low levels of <i>BRAF</i> V600E.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"553-561"},"PeriodicalIF":4.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11375207/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141316683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Shinae Yu, Byung Ryul Jeon, Changseung Liu, Dokyun Kim, Hae-Il Park, Hyung Doo Park, Jeong Hwan Shin, Jun Hyung Lee, Qute Choi, Sollip Kim, Yeo Min Yun, Eun-Jung Cho
{"title":"Laboratory Preparation for Digital Medicine in Healthcare 4.0: An Investigation Into the Awareness and Applications of Big Data and Artificial Intelligence.","authors":"Shinae Yu, Byung Ryul Jeon, Changseung Liu, Dokyun Kim, Hae-Il Park, Hyung Doo Park, Jeong Hwan Shin, Jun Hyung Lee, Qute Choi, Sollip Kim, Yeo Min Yun, Eun-Jung Cho","doi":"10.3343/alm.2024.0111","DOIUrl":"10.3343/alm.2024.0111","url":null,"abstract":"<p><strong>Background: </strong>Healthcare 4.0. refers to the integration of advanced technologies, such as artificial intelligence (AI) and big data analysis, into the healthcare sector. Recognizing the impact of Healthcare 4.0 technologies in laboratory medicine (LM), we seek to assess the overall awareness and implementation of Healthcare 4.0 among members of the Korean Society for Laboratory Medicine (KSLM).</p><p><strong>Methods: </strong>A web-based survey was conducted using an anonymous questionnaire. The survey comprised 36 questions covering demographic information (seven questions), big data (10 questions), and AI (19 questions).</p><p><strong>Results: </strong>In total, 182 (17.9%) of 1,017 KSLM members participated in the survey. Thirty-two percent of respondents considered AI to be the most important technology in LM in the era of Healthcare 4.0, closely followed by 31% who favored big data. Approximately 80% of respondents were familiar with big data but had not conducted research using it, and 71% were willing to participate in future big data research conducted by the KSLM. Respondents viewed AI as the most valuable tool in molecular genetics within various divisions. More than half of the respondents were open to the notion of using AI as assistance rather than a complete replacement for their roles.</p><p><strong>Conclusions: </strong>This survey highlighted KSLM members' awareness of the potential applications and implications of big data and AI. We emphasize the complexity of AI integration in healthcare, citing technical and ethical challenges leading to diverse opinions on its impact on employment and training. This highlights the need for a holistic approach to adopting new technologies.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"562-571"},"PeriodicalIF":4.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11375187/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141475829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}