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

{"title":"Look for the Colour: Gray Platelets - A Rare Bleeding Disorder.","authors":"Yutika Jaishankar Gujula, Rishab Bhurat, Sri Gayathri Shanmugam, Aishwarya Tamilselvam, Dhaarani Jayaraman, Julius Xavier Scott","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Gray Platelet Syndrome (GPS) is a very rare bleeding disorder. It is characterised by mild to moderate bleeding with macro thrombocytopenia and impaired alpha granules in megakaryocytes and platelets.</p><p><strong>Case details: </strong>A 8-year-old boy, presented with ecchymotic patches all over the body since early childhood. On examination, he had ecchymotic patches over the thigh and back. There were no dysmorphic features, lymphadenopathy or hepatosplenomegaly. Hemogram showed borderline low platelet (1.1*10^9) and normal hemoglobin and leucocytes. Prothrombin and Partial thromboplastin time were normal. Peripheral smear showed large platelets that lacked granules and looked pale, prompting us to think of Gray Platelets Syndrome. Mean platelet volume was 12.8fL. Genetic sequencing revealed homozygous mutation in the exon35 of NBEAL2-(c.5597del) gene, confirming the gray platelet syndrome (GPS).</p><p><strong>Conclusion: </strong>High index of suspicion and coordinated care between clinician and pathologists are important for timely diagnosis of such rare disorders.</p>","PeriodicalId":37192,"journal":{"name":"Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine","volume":"36 2","pages":"201-204"},"PeriodicalIF":0.0,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12205153/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530139","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":"Anti-NMDAR Autoimmune Encephalitis: A Diagnostic Challenge in Clinical Laboratories.","authors":"Patricia Ramos Mayordomo, Lourdes Martín Rodríguez, Nuria Alonso Castillejos","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an antibody-mediated neurological disease which is acute, severe and with a complicated differential diagnosis. In 38% of cases, it arises as a paraneoplastic neurological syndrome (PNS) associated with cancer. Ovarian teratomas are the most frequently associated tumors, especially in young women. However, teratomas are usually mature and benign and psychiatric and neurological symptoms improve after resection. Clinical laboratories play a key role in the diagnosis and prognosis of these diseases, highlighting the importance of laboratory test results to prompt the search for the associated tumor. In addition, communication between laboratory medicine specialists and clinicians, as well as a multidisciplinary approach, are essential for early disease identification and treatment.</p>","PeriodicalId":37192,"journal":{"name":"Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine","volume":"36 2","pages":"205-209"},"PeriodicalIF":0.0,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12205148/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530111","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":"Comment on Implosion of Grail's Galleri Cancer Screening Test?","authors":"Harjit Pal Bhattoa, Kannan Vaidyanathan","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":37192,"journal":{"name":"Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine","volume":"36 2","pages":"94"},"PeriodicalIF":0.0,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12205141/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530113","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":"Gamification As a Learning Modality in Clinical Chemistry - Breaking the Glass Ceiling.","authors":"Salma Ayub, Syed Haider Nawaz Naqvi, Sibtain Ahmed","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":37192,"journal":{"name":"Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine","volume":"36 2","pages":"95-96"},"PeriodicalIF":0.0,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12205156/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530119","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":"Investigation of Dyslipidemia and Lipid Profile Ratios Among Patients in Tertiary Care Hospitals.","authors":"Muhammad Bilal Habib, Noreen Sher Akbar, Ghanwa Batool","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Dyslipidemia, characterized by imbalances in lipid profiles, has emerged as a multifaceted health challenge in the population. Factors such as urbanization, dietary shifts, and genetic variations contribute to the rising prevalence of abnormal lipid levels. This condition significantly amplifies the risk of cardiovascular diseases, a leading cause of mortality. This study focused on dyslipidemia, risk factors, prevalence, evaluating the ratio of cholesterol to HDL (High density lipoproteins), triglyceride to HDL, LDL (Low density lipoproteins) to HDL, Cholesterol to LDL, triglyceride to LDL,HDL to LDL along with their comparative analysis and age-related patterns of dyslipidemia. A total of 100 were collected, comprising 64 males and 36 females. The findings revealed a significant prevalence of dyslipidemia, reaching 86%. Breakdown of lipid profiles showed specific prevalence rates for cholesterol (29%), triglycerides (50%), HDL (48%), and LDL (31%). Alarmingly, out of the 100, only 14 individuals had a normal lipid profile, indicating a high incidence of dyslipidemia in the region. Additionally, the study highlighted an age-dependent increase in the likelihood of developing dyslipidemia. The high prevalence of dyslipidemia is an important public health problem. Enhanced public health preventive measures should be implemented to better diagnose and comprehensively treat dyslipidemia.</p>","PeriodicalId":37192,"journal":{"name":"Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine","volume":"36 2","pages":"124-131"},"PeriodicalIF":0.0,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12208299/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530121","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":"Environmental Issues in Clinical Laboratories: Pragmatic Pathways to Sustainability.","authors":"Tony Badrick, Hafsa Majid, Tujia Mannisto, John Anetor","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":37192,"journal":{"name":"Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine","volume":"36 2","pages":"187-192"},"PeriodicalIF":0.0,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12205155/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530117","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":"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":"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":"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}