{"title":"Karyotype Analysis and Chromosomal Microarray Analysis in 568 Couples with Balanced Translocation for Prenatal Diagnosis.","authors":"Meirong Fan, Ruizhi Sui, Xin Yan, Guijie Wang","doi":"10.7754/Clin.Lab.2025.250667","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.250667","url":null,"abstract":"<p><strong>Background: </strong>Chromosomal balanced translocation is a prevalent structural chromosomal abnormality. Carriers typically exhibit no phenotypic differences, as the genetic material remains unchanged. However, during germ cell meiosis, unbalanced gametes may be produced, leading to genetic effects in offspring and potentially resulting in adverse outcomes. This study aims to explore the prenatal diagnostic value of combining chromosome karyotype analysis with chromosomal microarray analysis (CMA) for carriers of balanced chromosomal translocations, and to provide a reference for clinical genetic counselling.</p><p><strong>Methods: </strong>A total of 568 pregnant women who underwent prenatal diagnosis at our hospital from January 2018 to December 2023, in which one of the spouses was a balanced translocation carrier, were included. Amniocentesis was performed for karyotype analysis and CMA to detect abnormal chromosomes and assess the risk of adverse pregnancy outcomes in the fetus.</p><p><strong>Results: </strong>Among the 568 examinees, karyotype analysis identified 236 cases of abnormal fetuses (41.55%), whereas CMA identified 200 cases (35.21%). The combination of both methods detected a total of 265 cases of abnormal fetuses (46.65%). Karyotype analysis identified 163 cases (28.70%) as high risk for adverse pregnancy outcomes, whereas CMA and the combined use of both methods identified 183 cases (32.22%) as high risk. These differences were attributed to each method's adaptability and limitations. Follow-up revealed a 100% rate of adverse outcomes among those at high and moderate risk.</p><p><strong>Conclusions: </strong>Couples with balanced chromosomal translocations face an increased risk of adverse pregnancy outcomes. While karyotyping is effective in identifying diverse chromosomal abnormalities, its ability to detect minor fragments is limited. Conversely, CMA excels at identifying chromosomal abnormalities with small fragments but struggles with detecting balanced structural variations. The concurrent application of both technologies enhances the precision of diagnosing the risk of adverse pregnancy outcomes.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"72 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147671216","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Sudden Unexpected Death due to Brainstem Hemorrhage Associated with Cerebral Venous Malformation.","authors":"Yanzhen Wan, Aili Sun, Xiaoying Liu, Yougui Yu","doi":"10.7754/Clin.Lab.2025.250609","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.250609","url":null,"abstract":"<p><strong>Background: </strong>Cerebral venous malformations (CVMs) generally remain silent and asymptomatic in the vast majority of cases. CVM-associated lethal intracerebral hemorrhage is extremely rare.</p><p><strong>Methods: </strong>Here we presented a case with chest tightness, shortness of breath, fever and convulsive seizures. Chest and brain computed tomography, and laboratory testing were performed.</p><p><strong>Results: </strong>The patient suffered a sudden cardiac arrest and expired despite aggressive resuscitation efforts. Autopsy analysis revealed a venous vascular malformation located in the pons and medulla oblongata, and brainstem hemorrhage and hematoma formation in the surrounding areas.</p><p><strong>Conclusions: </strong>CVMs, though exceptionally rare, can lead to fatal hemorrhage and therefore warrant heightened clinical vigilance. Proactive measures should be implemented to mitigate potential risk factors for this severe complication. When evaluating adult patients with recurrent convulsive episodes, clinicians need to consider prompt neuroimaging to rule out life-threatening intracranial hemorrhage.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"72 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147670689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"BDNF Exacerbates Visceral Hypersensitivity through Hippocampal TrkB-CRF Signaling in Early-Life Stress.","authors":"Hongyu Zhao, Feixue Chen, Bing Li, ShiChen Fu, Xiuli Zuo, Liming Zhang","doi":"10.7754/Clin.Lab.2025.251129","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.251129","url":null,"abstract":"<p><strong>Background: </strong>Irritable bowel syndrome (IBS) associated with early-life stress (ELS) commonly manifests as anxiety and visceral hypersensitivity. However, the pathogenic mechanisms underlying these effects are not fully understood. This study aims to investigate the role of brain-derived neurotrophic factor (BDNF) as a key mediator of ELS-induced changes through the brain-gut axis.</p><p><strong>Methods: </strong>A Sprague-Dawley male maternal separation (MS) rat model was used to induce anxiety and visceral hypersensitivity associated with ELS. BDNF levels were measured in the limbic system (cingulate gyrus, amygdala, and hippocampus) and serum. The correlation between BDNF levels, anxiety, and visceral hypersensitivity was analyzed. Corticotropin-releasing factor (CRF) expression in the hippocampus and the extent of visceral hyper-sensitivity were assessed in control, MS, and MS+K252a (a BDNF receptor antagonist) groups.</p><p><strong>Results: </strong>MS rats exhibited higher levels of anxiety and visceral hypersensitivity compared to controls. BDNF production in the hippocampus was elevated in MS rats and positively correlated with anxiety (r = -0.78, p < 0.05) and visceral hypersensitivity (r = 0.93, p < 0.01). CRF expression, a key mediator of stress and visceral hypersensitivity, was also increased in the hippocampus of MS rats. Inhibition of BDNF signaling using K252a reduced CRF expression and alleviated visceral hypersensitivity.</p><p><strong>Conclusions: </strong>This study demonstrates that BDNF may mediate ELS-induced anxiety and visceral hypersensitivity through hippocampal TrkB-CRF signaling, providing a mechanistic basis for targeting BDNF in stress-related IBS.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"72 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147671123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Comparison of Diagnostic Algorithms with Commercial Kits Used to Detect Syphilis Antibodies.","authors":"Özlem Koca, Ebru Kandirali-Duygun, Yeşim Çekin, Aylin Erman-Daloğlu, Nevgün Özen, Gül Aydin-Tiğli","doi":"10.7754/Clin.Lab.2025.250659","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.250659","url":null,"abstract":"<p><strong>Background: </strong>Nowadays, especially in laboratories with high testing capacity, the widespread use of automated treponemal tests has increased the importance of algorithms used for syphilis serodiagnosis. In suspected syphilis cases, choosing the best algorithm is important from the aspect of diagnosis, treatment initiation, and treatment follow-up. In this study, we aimed to compare the diagnostic performance of traditional, reverse, and European Center for Disease Prevention and Control (ECDC) algorithms according to the clinical diagnosis of syphilis using rapid plasma reagin (RPR), chemiluminescence immunoassay (CLIA), and Treponema pallidum hemagglutination (TPHA) tests.</p><p><strong>Methods: </strong>Between March 2023 and July 2023, a total of 297 patients from various units of our hospital, suspected of having syphilis, were included in the study. All samples were analyzed using RPR, CLIA, and TPHA tests, and three different algorithms were examined separately. Clinical diagnosis was considered the gold standard.</p><p><strong>Results: </strong>A total of 105 patients have been diagnosed with syphilis. When the patients' clinical diagnosis were used as a reference, the sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of the traditional algorithm were found to be 41.9%, 100%, 100% and 75.9%, respectively, and all these parameters were found to be 100% for the reverse and ECDC algorithms. Moderate agreement (kappa value 0.483, p < 0.001) was found between the traditional and reverse algorithms. Very good agreement (kappa value 1.0, p < 0.001) was found between ECDC and the reverse algorithm.</p><p><strong>Conclusions: </strong>In diagnosing suspected syphilis cases, the reverse algorithm and ECDC algorithms utilizing treponemal tests as the initial step were found to be superior to the traditional algorithm. Our study demonstrates that treponemal antibody tests are superior when employed as the initial step in diagnosing syphilis in patients with latent syphilis among suspected cases. Nontreponemal tests should be used solely to evaluate disease activity and response to therapy.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"72 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147671139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lin Guo, Xi Yuan, Yun Zhou, Da Zhang, Hui Hui, Yan Zhang
{"title":"Immune Cells and Risk of Cervical Cancer: Evidence from a Mendelian Randomization Study.","authors":"Lin Guo, Xi Yuan, Yun Zhou, Da Zhang, Hui Hui, Yan Zhang","doi":"10.7754/Clin.Lab.2025.250552","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.250552","url":null,"abstract":"<p><strong>Background: </strong>Immune dysfunction is involved in the development of cervical cancer. There is lack of causal evidence presenting the effects of immune cells on the risk of cervical cancer (CC).</p><p><strong>Methods: </strong>The genetic information of single nucleotide polymorphisms (SNPs) from European descents was employed and a two-sample Mendelian randomization (MR) strategy was designed. In total, 731 kinds of immune cells were included as the exposures. For cervical cancer, the data was from the cohort involving almost 24,0000 participants. The inverse variance weighted (IVW) approach served as the main strategy for causality inference. MR-Egger and weighted median were the alternative methods for comparison. Sensitivity analyses focusing on heterogeneity and pleiotropy were then carried out to verify the estimated effects.</p><p><strong>Results: </strong>After selecting eligible SNPs for MR analysis, the IVW approach identified a total of 24 immune cell characteristics which were causally correlated with CC at p < 0.05. Among them, six immune cell phenotypes are confirmed to be related to an elevated risk of CC, while the remaining eighteen immune cell characteristics demonstrate protective effects against CC. MR-Egger and weighted median showed comparable results, and the detected associations passed the heterogeneity and pleiotropy tests.</p><p><strong>Conclusions: </strong>This Mendelian randomization study demonstrated causal associations between immune cells and CC, underscoring the intricate interactions of the immune system with CC. The results also provide insights into the mechanisms of CC development attributed to immunological regulation and highlight potential therapeutic targets for improving immune responses in patients with CC.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"72 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147671222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yuan Liu, Yang Qiao, Zi K Ren, Hai F Qu, Jin Y Li, Ai B Cheng
{"title":"Myocardial Dysfunction and Stress-Induced Cardiomyopathy Induced by Septic Shock After Hip Arthroplasty.","authors":"Yuan Liu, Yang Qiao, Zi K Ren, Hai F Qu, Jin Y Li, Ai B Cheng","doi":"10.7754/Clin.Lab.2025.250614","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.250614","url":null,"abstract":"<p><strong>Background: </strong>Stress-induced cardiomyopathy, also known as Takotsubo cardiomyopathy or apical ballooning syndrome, is a disease of acute reversible myocardial injury characterized by transient localized systolic left ventricular insufficiency.</p><p><strong>Methods: </strong>Appropriate laboratory tests are carried out, Next Generation Sequencing (NGS), Echocardiography.</p><p><strong>Results: </strong>Postoperative echocardiography showed myocardial dysplasia of the left ventricle and abnormal wall motion of the left ventricular phases. NGS: Burkholderia cepacia onionis, human herpesvirus type 6B, and human polyomavirus type 2. The patient's condition improved after aggressive anti-infective and symptomatic treatment.</p><p><strong>Conclusions: </strong>Because of the difficulty in distinguishing acute coronary syndromes from stress-induced cardiomyopathy, we should be on the lookout for stress-induced cardiomyopathy in any patient who develops a severe physical or emotional reaction during the perioperative period, with electrocardiographic abnormalities and refractory hypotension. Prompt and effective treatment can reverse myocardial damage.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"72 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147671229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Rheumatoid Factor Interference in Dual Immunoassays: False-Positive Procalcitonin and CK-MB Results.","authors":"Jiehua Han, Xiaorong Lu","doi":"10.7754/Clin.Lab.2025.250666","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.250666","url":null,"abstract":"<p><strong>Background: </strong>Immunoassays for procalcitonin (PCT) and CK-MB are critical in diagnosing sepsis and myocardial injury. However, rheumatoid factor (RF), an autoantibody against IgG-Fc, may cause false-positive results by bridging capture and detection antibodies in sandwich immunoassays.</p><p><strong>Methods: </strong>An 81-year-old female with rheumatoid arthritis (RF: 652.0 IU/mL) presented discordant PCT and CK-MB mass results. Interference was investigated via serial dilution, platform comparison (StarPilot immunofluorescence vs. Roche electrochemiluminescence), and RF blocking using IgM-specific inhibitors.</p><p><strong>Results: </strong>StarPilot assays showed elevated PCT (12.38 ng/mL) and CK-MB mass (96.29 ng/mL), contradicting clinical findings (no infection/cardiac symptoms) and CK-MB activity (12 U/L). Ten-fold dilution reduced PCT/CK-MB by 94% and 93%, respectively. Roche platforms returned normal results (PCT: 0.038 ng/mL; CK-MB: 0.203 ng/mL). Adding IgM-blocking reagent (800 µg/mL) normalized PCT (0.023 ng/mL) and CK-MB (0.323 ng/mL).</p><p><strong>Conclusions: </strong>High-titer RF simultaneously interferes with PCT and CK-MB immunoassays. Dilution tests, alternative platforms, and RF blocking are essential to mitigate misdiagnosis. Laboratories should implement RF interference protocols for discordant results.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"72 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147670618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Serum Galectin-3 and Glial Fibrillary Acidic Protein Levels in Patients with Spinal Cord Injury in Relation to Injury Severity and Prognosis.","authors":"Yi Ou, Hui-Yan Zong","doi":"10.7754/Clin.Lab.2025.250658","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.250658","url":null,"abstract":"<p><strong>Background: </strong>This research aimed to assess the link between serum galectin-3 (Gal-3) and glial fibrillary acidic protein (GFAP) levels and the severity and prognosis of spinal cord injury (SCI) patients.</p><p><strong>Methods: </strong>Serum Gal-3 and GFAP levels were measured in SCI patients. Serum Gal-3 and GFAP levels were analyzed in relation to SCI injury severity and prognosis. The prognostic value of serum Gal-3 and GFAP was assessed using ROC curve analysis.</p><p><strong>Results: </strong>The American Spinal Injury Association Impairment Scale (AIS) categorized 59 patients into the severe SCI group (AIS A-B). Serum Gal-3 and GFAP levels were higher in patients with severe SCI than in patients with non-severe SCI. The 6-month follow-up AIS classified 60 patients as having a poor prognosis. Serum Gal-3 and GFAP levels were higher in poor-prognosis SCI patients than in good-prognosis SCI patients. A significant association between poor prognosis and serum Gal-3 and GFAP was demonstrated through multivariate logistic regression analysis. ROC curve analysis showed that the AUCs for serum Gal-3 and GFAP were 0.856 and 0.890, respectively.</p><p><strong>Conclusions: </strong>Serum Gal-3 and GFAP levels are significantly associated with injury severity at admission and 6-month prognosis in SCI patients. Serum Gal-3 and GFAP levels can be used as clinical risk factors for predicting SCI injury severity and 6-month prognosis.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"72 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147670719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tong T Wang, Xiang Y Dong, Yi N Lu, Yong K Yan, Chen Zhong, Li C Zhang
{"title":"A Case of Waldenström's Macroglobulinemia Detected by the \"Negative Creatinine\" Alarm of Biochemical Results.","authors":"Tong T Wang, Xiang Y Dong, Yi N Lu, Yong K Yan, Chen Zhong, Li C Zhang","doi":"10.7754/Clin.Lab.2025.250578","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.250578","url":null,"abstract":"<p><strong>Background: </strong>Test results and outliers are of great significance to disease diagnosis, especially in some inconspicuous hematological diseases. This report presents a case of Waldenström's macroglobulinemia diagnosed following abnormal biochemical test results.</p><p><strong>Methods: </strong>The laboratory of our hospital conducted a review of the patient's specimen due to a negative creatinine value, despite normal reagents, quality controls, and instrument status. It was found that the specimen was non-lipemic, but it became turbid immediately after the addition of distilled water. Subsequent tests were carried out based on multiple abnormal findings. Biochemical tests were additionally performed, including blood immunoglobulin and serum protein electrophoresis. The presence of serum M protein was detected.</p><p><strong>Results: </strong>The diagnosis of Waldenström's macroglobulinemia was confirmed through consultation between the clinical physician and the laboratory physician.</p><p><strong>Conclusions: </strong>In clinical practice, it is not uncommon for test results to be abnormal. The role of laboratory workers is to quickly and accurately identify the causes of these abnormalities, so that clinicians can promptly diagnose patients and proceed with subsequent treatments.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"72 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147670999","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Adel Abo Mansour, Ahmad Shaikh, Bejad Aljohni, Amani A Salem, Anas M Bokhari, Abdalla N Fadul, Mohammad Abohassan, Ahmed Saif, Sultan Alasmari, Mohammed Makkawi
{"title":"The Prevalence of Coagulation Factor Deficiency Among Pediatric Populations in Medina City, Saudi Arabia.","authors":"Adel Abo Mansour, Ahmad Shaikh, Bejad Aljohni, Amani A Salem, Anas M Bokhari, Abdalla N Fadul, Mohammad Abohassan, Ahmed Saif, Sultan Alasmari, Mohammed Makkawi","doi":"10.7754/Clin.Lab.2025.250517","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.250517","url":null,"abstract":"<p><strong>Background: </strong>Coagulation factor deficiencies, a subset of inherited bleeding disorders, are characterized by impaired clotting due to insufficient or dysfunctional coagulation factors. This study aims to explore the prevalence of coagulation factor deficiencies in pediatric patients at the Maternity and Children Hospital in Medina, Saudi Arabia, between 2019 and 2023, and to assess their impact on platelet counts and coagulation profile parameters.</p><p><strong>Methods: </strong>A retrospective analysis was conducted involving 221 pediatric patients diagnosed with coagulation factor deficiencies. Clinical and laboratory data, including platelet count, prothrombin time (PT), international normalized ratio (INR), activated partial thromboplastin time (APTT), and coagulation factor levels, were extracted from patient clinical metadata. A control group of 50 healthy children were included for comparison.</p><p><strong>Results: </strong>Retrospective analysis revealed that the most common deficiencies were factor VIII (hemophilia A, 15.38%) and factor IX (hemophilia B, 14.47%), among both males and females (50.22% males and 49.78% females). Prothrombin time, INR, and APTT were significantly prolonged across all coagulation deficiencies (p < 0.0001). The findings also highlighted the importance of monitoring platelet and coagulation parameters in children with unexplained bleeding symptoms.</p><p><strong>Conclusions: </strong>The high prevalence of coagulation factor deficiencies in Medina, Saudi Arabia, underscores the need for early diagnosis, genetic counseling, and specialized care. This study emphasizes the importance of a comprehensive approach to managing bleeding disorders, including close monitoring of coagulation profiles and platelet counts.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"72 4","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147670823","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}