Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine最新文献

{"title":"Revolutionizing DNA Extraction: A Cost-Effective Approach for Genomic DNA Retrieval from Dried Blood Spots.","authors":"Kundapura S Haripriya, Anju Srinivas, Manju Hosuru Chikkalingaih, Anshu Kumar Yadav, Prashant Vishwanath, Suma M Nataraj, Akila Prashant","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>This study introduces an efficient, cost-effective laboratory- derived method for extracting genomic DNA from dried blood spots (DBS) by optimizing the organic separation phenol method.</p><p><strong>Methodology: </strong>DBS samples, collected via heel prick from 50 neonates as a part of routine newborn screening, were processed using an optimized phenol method that employs lysis buffers with minimal concentrations of proteinase K and phenol:chloroform:isoamyl alcohol (PCI) reagent.</p><p><strong>Results: </strong>The extracted genomic DNA exhibited a concentration range of 50 to 200ng/μl, with purity levels (A260/280) falling within the range of 1.4 to 1.6, as measured by nanodrop. Gel electrophoresis, post polymerase chain reaction (PCR) amplification, consistently revealed distinct, non-degraded bands for both a 345-bp fragment (Chymotrypsin C, CTRC gene) and a 250-bp fragment (Glyceraldehyde-3-phosphate dehydrogenase, GAPDH gene) across all samples.</p><p><strong>Conclusion: </strong>The method utilizes routine consumables readily available in basic molecular biology laboratories, circumventing the need for expensive kits. It holds significant promise for genetic diagnostics and research applications, particularly in situations where DBS serves as a means of collecting and preserving samples from individuals in remote areas.</p><p><strong>Graphical abstract: </strong></p><p><strong>Highlights: </strong>Refined phenol-based method that offers cost-effective means of extracting genomic DNA from dried blood spots on filter paper.Key attributes of this approach include its simplicity and use of PCI (25:24:1) reagent for superior DNA yield.A reliable choice that is economically advantageous for further molecular investigations involving DBS specimens.</p>","PeriodicalId":37192,"journal":{"name":"Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine","volume":"36 1","pages":"60-68"},"PeriodicalIF":0.0,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11886624/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143587524","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}

{"title":"Biomarkers for Harmful Alcohol Use should be Reliable, Standardised, and Traceable: Only the CDT reference method has been approved by JCTLM and IFCC.","authors":"Jos Wielders, Anders Helander, Jean Deenmamode, Cas Weykamp, François Schellenberg","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":37192,"journal":{"name":"Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine","volume":"36 1","pages":"3-6"},"PeriodicalIF":0.0,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11886621/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143587438","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}

{"title":"Implosion of Grail's Galleri Cancer Screening Test?","authors":"Miyo K Chatanaka, Eleftherios P Diamandis","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":37192,"journal":{"name":"Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine","volume":"36 1","pages":"7-8"},"PeriodicalIF":0.0,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11886625/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143587500","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}

{"title":"The Missing M Band: Is it Really Non Secretory Multiple Myeloma?","authors":"Mala Mahto, Anurag Kumar, Neha Rai, Visesh Kumar, Subhash Kumar, Tarun Kumar, Ruchi Sinha, Pritanjali Singh","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Non-secretory multiple myeloma (NSMM) is defined as clonal bone marrow plasma cells ≥10% or biopsy proven plasmacytoma, evidence of end-organ damage due to underlying plasma cell dyscrasia, namely hypercalcemia, renal insufficiency, anaemia, bone lesions and lack of serum and urinary monoclonal protein on electrophoresis and immunofixation. They represent 3-5% of multiple myeloma (MM). With the advent of serum free light chain (s FLC) measurement, most of NSMMs have been classified as Light chain Multiple myeloma (LCMM). Thus, the proportion of true NSMM, meaning MM that secretes no monoclonal protein (complete immunoglobulin, heavy or light chain) is close to 1-2% of all myelomas. There is a need to distinguish between the true non-secretory from the other forms of oligo-secretory (OSMM) and secretory form of myeloma like LCMM with use of advanced diagnostic tools such as s FLC assay as the former has a good prognosis.</p><p><strong>Case presentation: </strong>We discuss a case of a 65-years-old female who presented with chronic chest pain since one year. Cardiac and musculoskeletal involvement were ruled out. Monoclonal gammopathy was suspected in view of imaging abnormalities. Surprisingly, SPE and IFE reported absence of M band. A provisional diagnosis of NSMM was made based on biopsy features. However, diagnosis of NSMM was later changed to LCMM in view of a positive sFLC ratio.</p><p><strong>Conclusions: </strong>It is well-known that the sequence of diagnostic investigations plays a crucial role in the timely diagnosis and management of patients. However, in this case it was a faulty sequence of ordering investigations which prolonged the hospital stay and delayed therapeutic intervention for the patient concerned. Serum Protein Electrophoresis (SPE), Immunofixation electrophoresis (IFE) and sFLC are simple blood-based tests which can help diagnose a majority of cases of monoclonal gammopathies. They need to be included as first line tests in our approach to evaluating a suspected case of monoclonal gammopathy.</p>","PeriodicalId":37192,"journal":{"name":"Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine","volume":"36 1","pages":"74-82"},"PeriodicalIF":0.0,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11886629/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143587530","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}

{"title":"Highlights from the Manifesto on Early Detection and Diagnosis of Cardiovascular Disease: The Role of Laboratory Tests and Emerging Technologies.","authors":"Damien Gruson, Chiara Peranio, Aistė Štaraitė, Richard Hobbs, Knut Borch-Johnsen, Zanfina Ademi, Izabella Uchmanowicz, Neil Jonhson","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":37192,"journal":{"name":"Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine","volume":"36 1","pages":"9-11"},"PeriodicalIF":0.0,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11886626/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143587494","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}

{"title":"Increasing the Impact and Value of Laboratory Medicine Through Effective and AI-Assisted Communication.","authors":"Tahir S Pillay","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Effective communication is pivotal in maximizing the impact and value of laboratory medicine (LM) within healthcare. This review explores diverse strategies to enhance communication among healthcare providers, patients, laboratory personnel, and the general public. Key strategies include improving interdisciplinary collaboration through clear reporting, regular multidisciplinary meetings, and consultative services. Enhancing patient communication involves providing accessible test results via patient portals, developing educational materials, and fostering direct patient-provider communication. Implementing efficient information systems by integrating laboratory information systems with electronic health records and using automated alerts ensures timely data sharing and critical value notifications. Continuous education and training for healthcare providers and laboratory staff will keep them updated on advancements and improve communication skills. Fostering a culture of open communication encourages feedback and transparency, while leveraging technology such as telemedicine, mobile health applications, and artificial intelligence--(AI)-driven tools enhances real-time consultations and personalized insights. AI can be used to assist communication through providing advanced data analysis, personalized patient insights, enhanced communication, streamlined workflows, and demonstrable impact through research and analytics. These strategies collectively ensure accurate conveyance of critical information, improving patient and public insight and leading to better patient outcomes and more informed clinical decisions.</p>","PeriodicalId":37192,"journal":{"name":"Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine","volume":"36 1","pages":"12-25"},"PeriodicalIF":0.0,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11886622/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143587513","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}

{"title":"Practices and Insights for Diabetes Mellitus Testing in Sri Lanka, Singapore and the Philippines.","authors":"Indika Deepani Siriwardhana, Tan Jun Guan, Maria Ruth Pineda-Cortel, Samuel D Vasikaran, Mithu Banerjee","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Considering The pivotal role of biochemical testing for the management of diabetes mellitus, we studied the current status of diabetes testing and reporting in three countries of the Asia-Pacific region.</p><p><strong>Methods: </strong>A survey of 254 practicing pathology laboratories comprising of 40, 11 and 203 laboratories from Sri Lanka, Singapore and the Philippines was conducted under the auspices of the Asia-Pacific Federation for Clinical Biochemistry and Laboratory Medicine (APFCB) Working Group for Diabetes Testing Harmonization using Survey Monkey and Google Forms.</p><p><strong>Results: </strong>The country response rate varied from 40% to 88%. A diagnostic threshold of 6.5% (48 mmol/mol) for HbA1c is reported by 51%, 22% and 90% of the participant laboratories in Sri Lanka, Singapore and the Philippines, respectively. All participants in Singapore and 86% of the laboratories in Philippines use NGSP-certified methods for HbA1c. Traceability to Certified Reference Materials for both glucose and HbA1c results was confirmed by 74% of Sri Lankan laboratories. For albuminuria testing, early morning spot urine albumin to creatinine ratio is recommended by 56%, 75% and 69% of the laboratories in Sri Lanka, Singapore and the Philippines, respectively, while 16%, 50% and 26% of the laboratories recommended 24-hour urine collection.</p><p><strong>Conclusion: </strong>There is a lack of harmonization in diabetes testing and reporting practices both across and even within the three countries surveyed. Scientific bodies or professional associations have an important role in harmonization of laboratory testing and reporting of results for the diagnosis and management of diabetes mellitus.</p>","PeriodicalId":37192,"journal":{"name":"Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine","volume":"36 1","pages":"50-59"},"PeriodicalIF":0.0,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11886627/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143587521","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}

{"title":"Spreadsheet for Patient-Based Quality Control Analysis and Evaluation (SPAE).","authors":"Hui Qi Low, Hyun-Ki Kim, Sollip Kim, Tony Badrick, Tze Ping Loh, Chun Yee Lim","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>Patient-based quality control (PBQC) is an alternate quality control technique to conventional (internal) quality control. It uses patient results generated for clinical care to monitor the analytical performance through statistical analysis. The use of PBQC in routine laboratory is impeded by lack of familiarity and appropriate informatics tool.</p><p><strong>Method: </strong>A Spreadsheet for PBQC Analysis and Evaluation (SPAE, based on Microsoft Excel) is developed. It incorporates IFCC recommended features for PBQC informatics tool that has been automated, including data visualization, data (Box-Cox) transformation, extreme value treatment (winsorization) and user parameter selection (block size, acceptable false positive rate, desirable bias for detection).</p><p><strong>Results: </strong>Following parameter selection and data input, the spreadsheet automatically calculates the winsorization limits, transformed values, performance verification metrics such as false positive rates and number of results affected before error detection (NPed) - a performance metric for how sensitive the PBQC model detects the predefined error (bias). The verified PBQC model can be used for routine monitoring. The performance of the spreadsheet tool was verified against an independent model based on Python. Laboratory users can download the tool at https://github.com/HuiQi96/PBQC/blob/main/PBQC_model_v2.2.zip.</p><p><strong>Discussion: </strong>The SPAE is a simple-to-use desktop tool that lowers the barrier for laboratory users to adopt PBQC in their quality control system. In addition, the spreadsheet can be used as an educational tool, such as when conducting a workshop, to help laboratory users better familiarize themselves with the PBQC concepts and used for independent verification of the output of another informatics tool.</p>","PeriodicalId":37192,"journal":{"name":"Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine","volume":"36 1","pages":"26-36"},"PeriodicalIF":0.0,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11886628/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143587527","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}

{"title":"A Rare Pure Calcite Urolithiasis Confirmed by Infrared Spectroscopy.","authors":"Abdelaali Belhachem, Mustapha Zendjabil, Slimane Houache, Amina Amiar, Houari Toumi","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>This case report describes a 41-year-old woman with no significant medical history and a normal body mass index (BMI), who presented with ureterohydronephrosis due to a 5.5mm x 9mm calculus composed primarily of calcite (CaCO₃) at the ureterovesical junction. The kidney stone, associated with cystitis and perirenal fat infiltration, was spontaneously expelled and subsequently analyzed. Optical microscopy revealed a grey homogeneous stone with a rough surface and white crystals upon examination. Fourier-transform infrared spectroscopy (FTIR-ATR) confirmed the stone's composition as pure calcite, displaying characteristic absorption bands indicative of its crystalline structure. The patient reported long-term use of multiple vitamins and plant-based supplements, possibly contributing to stone formation. The discussion includes insights on calcite urolithiasis, highlighting factors such as alkaline urine pH and calcium metabolism that can influence stone formation, underscoring the complexity of managing kidney stone risk in supplement users.</p>","PeriodicalId":37192,"journal":{"name":"Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine","volume":"36 1","pages":"69-73"},"PeriodicalIF":0.0,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11886630/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143587474","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}

{"title":"International Consensus on ANA Patterns (ICAP) Classification Tree Revisited: A Single Centre Report on Four Nuclear Patterns from a Tertiary Care Centre in India.","authors":"Aanjik Ranjan, Shamshad Ahmad, Sushil Kumar, Pratap Kumar Patra, Avinash Kumar, Jyoti Prakash, Swetalina Pradhan, Mala Mahto","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>ICAP describes ANA patterns from AC- 0 to AC-29. They are further marked for competent or expertise reporting depending on ease of identification. There are some debatable patterns in ICAP which share similar features with a few others yet have a distinct identity and few others which are not addressed by ICAP but are described by BCA like Quasihomogenous. This study analysed four nuclear patterns with overlapping features, namely Homogenous, speckled, Dense Fine Speckled70(DFS70) and quasi-homogenous to identify challenges posed in their identification due to overlapping features.</p><p><strong>Methods: </strong>All samples which were reported as positive for the above four nuclear patterns (n=388) by IIF using HEp-2 cell were included in the study. LIA was performed on 103 such samples to look for association between the ANA patterns and specific antibody detected by LIA.</p><p><strong>Results: </strong>DFS70 pattern is a rare pattern and existed in combination with other autoantibodies thus making its identification difficult on IIF. Homogenous pattern corresponded to AC- 29 (anti-topoisomerase, anti-Scl 70) which was probably due to wrong identification. Mixed pattern i.e speckled and homogenous was associated with Sm and U1sn RNP antibodies.</p><p><strong>Conclusions: </strong>DFS 70 is a pattern with overlapping features of both homogenous and speckled and calls for expertise reporting. More awareness is required about AC 29 pattern as it is an overlap of five different components. Its identification poses significant challenges and is rightly placed in the expert reporting by ICAP. Mixed pattern (speckled and homogenous) referred to as Quasihomogenous by BCA needs to be addressed by ICAP.</p>","PeriodicalId":37192,"journal":{"name":"Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine","volume":"36 1","pages":"37-49"},"PeriodicalIF":0.0,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11886623/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143587518","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}