Laboratory medicine最新文献

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Serologic detection of regenerating protein I alpha by time-resolved fluoroimmunoassay and its clinical value in gastric cancer. 用时间分辨荧光免疫测定法检测再生蛋白 I alpha 的血清学特性及其在胃癌中的临床价值。
Laboratory medicine Pub Date : 2025-01-11 DOI: 10.1093/labmed/lmae106
Zhongyi Xiang, Xiaoyan Wang, Akao Zhu, Xindong Chen, Yuan Qin, Xiumei Zhou, Xueqin Zhao, Yigang Wang, Biao Huang, Hongming Fang, Pengfei Liu
{"title":"Serologic detection of regenerating protein I alpha by time-resolved fluoroimmunoassay and its clinical value in gastric cancer.","authors":"Zhongyi Xiang, Xiaoyan Wang, Akao Zhu, Xindong Chen, Yuan Qin, Xiumei Zhou, Xueqin Zhao, Yigang Wang, Biao Huang, Hongming Fang, Pengfei Liu","doi":"10.1093/labmed/lmae106","DOIUrl":"https://doi.org/10.1093/labmed/lmae106","url":null,"abstract":"<p><strong>Background: </strong>Regenerating protein I alpha (REG Iα) plays a key role in the progression of gastric cancer (GC). However, the clinical application value of serum REG Iα in GC remains largely unknown.</p><p><strong>Methods: </strong>Serum REG Iα levels were analyzed through time-resolved fluoroimmunoassay (TRFIA) in healthy controls (HCs) and patients with benign gastric disease (BGD) and GC.</p><p><strong>Results: </strong>The REG Iα levels of patients with GC were significantly higher than those of HCs and patients with BGD (P < .0001). The REG Iα levels were higher in patients with GC with poor pathological differentiation type; tumor, node, and metastasis stages III-IV; deep tumor invasion (T3-T4); and distant metastasis (P < .05). The diagnostic efficiency of the combined REG Iα, carcinoembryonic antigen (CEA), and carbohydrate antigen 19-9 (CA19-9) tests improved compared with that of the single-indicator test for the diagnosis of patients with GC.</p><p><strong>Conclusion: </strong>REG Iα-TRFIA may facilitate the ancillary diagnosis of GC and have a monitoring role for further progression of GC. It can also help elucidate the possible diagnostic role of serum REG Iα as a noninvasive tool.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142974088","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
Red blood cell alloimmunization in transfused patients with myelodysplastic syndromes: a retrospective study from northern China. 骨髓增生异常综合征输血患者的红细胞同种免疫:一项来自中国北方的回顾性研究。
Laboratory medicine Pub Date : 2025-01-06 DOI: 10.1093/labmed/lmae056
Li Wang, Xiaoxin Xu, Shichun Wang, Ruidong Li, Pengyu Zhang
{"title":"Red blood cell alloimmunization in transfused patients with myelodysplastic syndromes: a retrospective study from northern China.","authors":"Li Wang, Xiaoxin Xu, Shichun Wang, Ruidong Li, Pengyu Zhang","doi":"10.1093/labmed/lmae056","DOIUrl":"10.1093/labmed/lmae056","url":null,"abstract":"<p><strong>Objective: </strong>Alloimmunization against red blood cell (RBC) antigen is an important concern in myelodysplastic syndromes (MDSs) patients with chronic transfusion, causing potential risk for hemolytic reaction and limited supply of compatible blood. However, there is little data addressing RBC alloimmunization in this patient cohort among the Chinese population. This study aims to evaluate the incidence, specificity of antibodies, and RBC units transfused before antibody formation and its significance in a population of patients consistently receiving RhD-matched RBC units.</p><p><strong>Methods: </strong>We retrospectively reviewed the transfusion and clinical information of all transfused patients with MDS enrolled in our hospital from 2012 to 2022. The cumulative incidence of alloimmunization was analyzed by a Kaplan-Meier plot. Alloimmunization incidence was compared based on different transfused RBC units using the log-rank test.</p><p><strong>Results: </strong>A total of 103 patients with MDS were included in this study; alloantibody formed in 8 (7.8%) patients. Before reaching 32 RBC units, 87.5% of the alloimmunized patients had developed their alloantibodies. All but 1 of the alloantibodies developed were antibodies to Rh antigens. The RBC transfusion intensity and frequency were significantly higher following alloimmunization in the alloimmunized patients (P = .008, P = .008, respectively).</p><p><strong>Conclusion: </strong>The antibodies detected mostly involve the Rh system among MDS patients in China. The alloimmunization tended to occur early prior to reaching 32 RBC units in patients with MDS. Rh antigen matching should be considered early in the patient's transfusion history and completed before receiving 32 RBC units.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"22-30"},"PeriodicalIF":0.0,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141768394","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
The roles played by hsa-miR-223-5p and mutations in the S gene of SARS-CoV-2 in COVID-19. hsa-miR-223-5p 和 SARS-CoV-2 S 基因突变在 COVID-19 中的作用。
Laboratory medicine Pub Date : 2025-01-06 DOI: 10.1093/labmed/lmae066
Zeyad Sadeg Sabbar, Ashraf Kariminik, Maryam Ghane
{"title":"The roles played by hsa-miR-223-5p and mutations in the S gene of SARS-CoV-2 in COVID-19.","authors":"Zeyad Sadeg Sabbar, Ashraf Kariminik, Maryam Ghane","doi":"10.1093/labmed/lmae066","DOIUrl":"10.1093/labmed/lmae066","url":null,"abstract":"<p><strong>Background: </strong>Increased proinflammatory molecules are a main reason for severe symptoms in patients infected with SARS-CoV-2. This study evaluated mutations in the S gene of SARS-CoV-2 and the expression of hsa-miR-223-5p, interleukin 2 receptor α (IL-2Rα), and CCL16 chemokine in hospitalized SARS-CoV-2 infected patients.</p><p><strong>Design: </strong>This is a cross-sectional study.</p><p><strong>Methods: </strong>This study included 75 SARS-CoV-2-infected patients with severe symptoms and 75 age-sex-matched healthy controls. Real-time polymerase chain reaction techniques were used to evaluate the expression levels of hsa-miR-223-5p, IL-2Rα, and CCL16 chemokine. The Sanger technique was used to sequence the S gene of SARS-CoV-2 from positions 23,274 to 23,641.</p><p><strong>Results: </strong>The relative expression of hsa-miR-223-5p was significantly increased whereas that of IL-2Rα was significantly decreased in the SARS-CoV-2 infected patients. Two mutations were found in the S gene of SARS-CoV-2 at positions 23,403 (p.Asp23403Gly) and 23,525 (p.His23525Tyr) of the S gene of SARS-CoV-2.</p><p><strong>Conclusion: </strong>Increased hsa-miR-223-5p may be a main cause for the downregulation of IL-2Rα, which is a main developer of T-regulatory lymphocytes. The mutations in the S gene of SARS-CoV-2-infected patients may affect immune responses to the molecule and alter the avidity of virus-human cell interactions.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"55-63"},"PeriodicalIF":0.0,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141895117","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
External quality assurance experience with Royal College of Pathologists of Australasia Program at an academic hospital in South Africa. 南非一家学术医院的澳大拉西亚皇家病理学院计划外部质量保证经验。
Laboratory medicine Pub Date : 2025-01-06 DOI: 10.1093/labmed/lmae069
Ngwanatala Sophia Mokoka, Elise Schapkaitz, Susan Louw
{"title":"External quality assurance experience with Royal College of Pathologists of Australasia Program at an academic hospital in South Africa.","authors":"Ngwanatala Sophia Mokoka, Elise Schapkaitz, Susan Louw","doi":"10.1093/labmed/lmae069","DOIUrl":"10.1093/labmed/lmae069","url":null,"abstract":"<p><strong>Introduction: </strong>Laboratories use their performance in external quality assurance (EQA) to establish quality planning strategies and to assess whether testing processes require improvement.</p><p><strong>Methods: </strong>The EQA performance of the hematology and coagulation test parameters on the Royal College of Pathologists of Australasia EQA program was evaluated over a 4-year cycle at an academic hospital in Johannesburg, South Africa. The test performance was determined from analytical quality specification (APS) and/or z-scores. Bias and imprecision were used to calculate sigma (σ) metric scores. Specifications from European Federation of Laboratory Medicine and/or biological variation were applied.</p><p><strong>Results: </strong>The laboratory achieved a mean testing score of 98.7 ± 4.0%. There were 103 (10.7%) unacceptable results. On investigation, root causes included: presurvey issues (83%), transcription errors (9%), random errors (6%), and test performance errors (3%). All test parameters evaluated achieved an acceptable median APS during the study period. The mean z-scores, however, were >2 and unacceptable for mean cell hemoglobin concentration and hematocrit. On investigation, this was attributed to significant delay in transport and storage of full blood count samples. White cell count and d-dimer achieved a σ ≥ 6.</p><p><strong>Conclusion: </strong>EQA participation assisted the laboratory in maintaining a quality system. Close monitoring is necessary for international laboratories to avoid sample delays that can affect result quality.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"70-80"},"PeriodicalIF":0.0,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141904063","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
Difference in activated partial thromboplastin time values with two different reagents according to C-reactive protein values. 根据 C 反应蛋白值,两种不同试剂的活化部分凝血活酶时间值的差异。
Laboratory medicine Pub Date : 2025-01-06 DOI: 10.1093/labmed/lmae053
Yuya Ishihara, Hiroki Doi, Seiko Sato, Hiroyasu Ito
{"title":"Difference in activated partial thromboplastin time values with two different reagents according to C-reactive protein values.","authors":"Yuya Ishihara, Hiroki Doi, Seiko Sato, Hiroyasu Ito","doi":"10.1093/labmed/lmae053","DOIUrl":"10.1093/labmed/lmae053","url":null,"abstract":"<p><strong>Background: </strong>Activated partial thromboplastin time (APTT) is susceptible to reagent composition. This study aimed to investigate a large number of specimens and determine the cause of discrepancies.</p><p><strong>Method: </strong>This study included 18,994 subjects who underwent coagulation tests at our hospital from May 2020 to December 2020. Measuring reagents included HemosIL SynthASil APTT (APTT-SS, Instrumentation Laboratory) and Coagpia APTT-N (APTT-N, Sekisui Medical).</p><p><strong>Results: </strong>A total of 451 patients demonstrated APTT-N of >39 seconds and an APTT-N/SS ratio of >1.3. A C-reactive protein (CRP) level of ≥1.4 mg/L demonstrated a significant positive correlation, with a higher APTT-N/SS indicating higher CRP levels. All 28 subjects receiving no anticoagulants and who had remaining specimens underwent a cross-mixing test (CMT). Of them, 17 were suspected for lupus anticoagulant (LA) by both the waveform shape and the index of circulating anticoagulant (ICA) value, 6 by the ICA value, and 5 were difficult to determine.</p><p><strong>Conclusion: </strong>This study revealed that the APTT-N prolongation correlated with CRP degree and the transient involvement of LA in CMT results due to CRP. This study indicated various reactivities depending on the assay reagents used. Further testing is warranted if LA is suspected, considering the patient's background.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"7-14"},"PeriodicalIF":0.0,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142116620","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
Automated feathered edge blood smear analysis: early diagnosis of carcinocythemia in a case of disseminated intravascular coagulation with multi-organ failure. 自动羽状边缘血涂片分析:在一例伴有多器官功能衰竭的弥散性血管内凝血病例中早期诊断出癌细胞增多症。
Laboratory medicine Pub Date : 2025-01-06 DOI: 10.1093/labmed/lmae068
Marth Briers, Marnix Mylemans, Thomas Tousseyn, Lo Man Lai, Mercedeh Tajdar, Christine Van Laer
{"title":"Automated feathered edge blood smear analysis: early diagnosis of carcinocythemia in a case of disseminated intravascular coagulation with multi-organ failure.","authors":"Marth Briers, Marnix Mylemans, Thomas Tousseyn, Lo Man Lai, Mercedeh Tajdar, Christine Van Laer","doi":"10.1093/labmed/lmae068","DOIUrl":"10.1093/labmed/lmae068","url":null,"abstract":"<p><p>Carcinocythemia, known as the presence of circulating tumor cells in the peripheral blood, is difficult to detect when the carcinoma cells are minimally present. We describe a case of a 56-year-old patient presenting with disseminated intravascular coagulation (DIC) and multiple organ failure. Despite initial suspicion of sepsis, a peripheral blood smear showed the presence of atypical cells, mainly located at the feathered edge, leading to a presumptive diagnosis of carcinocythemia of unknown primary origin. The presence of a high-fluorescent cell population detected by our hematology analyzer (Sysmex XN-9100) and immunohistochemical staining with pancytokeratin AE1/AE3 confirmed the carcinoma cell origin. The patient died 4 days after referral to our hospital. Postmortem examination revealed a pleomorphic lobular breast carcinoma (triple-negative, androgen receptor-negative). Given the clinical acuity of patients with carcinocythemia, early diagnosis is essential to guide management. This case underscores the importance of optimizing current workflows relying on complex flagging algorithms and enhanced digital imaging to aid in the early detection of such rare condition. When patients present with DIC of unknown origin and high fluorescent signals are detected on the hematology analyzer, carcinocythemia should actively be ruled out by extensive microscopic peripheral blood examination.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"101-104"},"PeriodicalIF":0.0,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142001624","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
Dysphagia and chest pain in a 7-year-old girl. 一名 7 岁女孩出现吞咽困难和胸痛。
Laboratory medicine Pub Date : 2025-01-06 DOI: 10.1093/labmed/lmae063
Charles B Chen, Balaji Cherupalla
{"title":"Dysphagia and chest pain in a 7-year-old girl.","authors":"Charles B Chen, Balaji Cherupalla","doi":"10.1093/labmed/lmae063","DOIUrl":"10.1093/labmed/lmae063","url":null,"abstract":"<p><p>Dysphagia is a common gastrointestinal complaint in the pediatric population and should raise concern for oropharyngeal as well as esophageal disorders. We describe a 7-year old patient who was admitted to the hospital for sudden onset dysphagia, abdominal pain, and decreased oral intake. Extensive evaluations including endoscopy eventually revealed herpes simplex esophagitis as well as eosinophilic esophagitis. Herpes simplex esophagitis is a rare condition in the immunocompetent population and is typically self-resolving. Eosinophilic esophagitis is a chronic, inflammatory condition characterized by esophageal eosinophilia and signs of esophageal dysfunction. The concurrent presentation of both conditions in the pediatric population has rarely been described.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"97-100"},"PeriodicalIF":0.0,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141904062","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
Association between triglyceride to HDL cholesterol ratio and a risk of diabetes mellitus: a systematic review and meta-analysis. 甘油三酯与高密度脂蛋白胆固醇比率与糖尿病风险之间的关系:系统回顾和荟萃分析。
Laboratory medicine Pub Date : 2025-01-06 DOI: 10.1093/labmed/lmae052
Hongjing Zhong, Laiming Luo, Xiaomei Wang, Yao Xiao
{"title":"Association between triglyceride to HDL cholesterol ratio and a risk of diabetes mellitus: a systematic review and meta-analysis.","authors":"Hongjing Zhong, Laiming Luo, Xiaomei Wang, Yao Xiao","doi":"10.1093/labmed/lmae052","DOIUrl":"10.1093/labmed/lmae052","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to investigate the link between the triglyceride-to-high-density lipoprotein cholesterol ratio (TG/HDL-C) and the occurrence of type 2 diabetes mellitus (T2DM).</p><p><strong>Methods: </strong>PubMed, Embase, and Scopus databases were searched for cohort and case-control studies that reported on the link between TG/HDL-C and a risk of T2DM, with no restrictions on criteria used for the definition and categorization of low and high TG/HDL-C ratios.</p><p><strong>Results: </strong>A total of 20 studies were included. There was considerable variability in terms of categorization of low or normal and higher TG/HDL-C ratio among the studies. Patients with high TG/HDL-C ratio had markedly higher risk of developing T2DM compared with patients with low or normal TG/HDL-C. Each unit increase in the ratio correlated with the increased risk of diabetes. Subgroup analysis based on sex showed an increased risk of T2DM in males and females with a high ratio compared with the group with a low/normal ratio.</p><p><strong>Conclusion: </strong>Higher TG/HDL-C ratio correlates with increased risk of T2DM. Despite limitations, the study demonstrates a possible value of using TG/HDL-C ratio as a biomarker for diabetes risk.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141790676","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
Jerk (d(acceleration)/dt) as an operative variable in pneumatic tube transport (PTT). 作为气动管道输送(PTT)操作变量的抖动(d(加速度)/dt)。
Laboratory medicine Pub Date : 2025-01-06 DOI: 10.1093/labmed/lmae055
Christopher J Mattiello, Douglas F Stickle
{"title":"Jerk (d(acceleration)/dt) as an operative variable in pneumatic tube transport (PTT).","authors":"Christopher J Mattiello, Douglas F Stickle","doi":"10.1093/labmed/lmae055","DOIUrl":"10.1093/labmed/lmae055","url":null,"abstract":"<p><strong>Background: </strong>Jerk, the rate of change of acceleration (d(acceleration)/dt), is a known operative variable in public transportation safety, but this term has never appeared in the literature regarding pneumatic tube transport (PTT) and specimen integrity. We investigated profiles of acceleration and jerk for 2 PTT routes within our hospital system.</p><p><strong>Methods: </strong>Acceleration data were collected for PTT for 2 routes (A, B) using an accelerometer. Acceleration vectors (a) were analyzed in terms of distributions of jerk (da/dt), and distributions of θ, the angle between successive acceleration vectors.</p><p><strong>Results: </strong>Routes A and B had transit times of approximately 300 s. Acceleration vectors (a) ranged in magnitude from 0 to 8 g. For B, a > 1.2 g comprised 29.0% of results, compared to 13.5% of results for A (ratio = 2.1). Jerk ranged from 0 to 94 g/s. For B, jerk > 0.5 g/s comprised 71.9% of results, compared to 32.5% of results for A (ratio = 2.2). θ ranged from 0 to 180 degrees. For B, θ > 5 degrees comprised 59.3% of results, compared to 26.6% of results for A (ratio = 2.2).</p><p><strong>Conclusion: </strong>Differences in distribution in acceleration, jerk, and θ ran in parallel as variables for comparison between 2 PTT routes. Jerk and θ are likely to be operative variables in effects of PTT.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"15-21"},"PeriodicalIF":0.0,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141636314","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
Prothrombin deficiency with recurrent subretinal hemorrhage. 凝血酶原缺乏症伴复发性视网膜下出血。
Laboratory medicine Pub Date : 2025-01-06 DOI: 10.1093/labmed/lmae057
Eros Qama, Kritika Krishnamurthy, Joseph J Mulvey, Kenneth G Liu, David L Fernandes, Yanan Fang
{"title":"Prothrombin deficiency with recurrent subretinal hemorrhage.","authors":"Eros Qama, Kritika Krishnamurthy, Joseph J Mulvey, Kenneth G Liu, David L Fernandes, Yanan Fang","doi":"10.1093/labmed/lmae057","DOIUrl":"10.1093/labmed/lmae057","url":null,"abstract":"<p><p>Ocular hemorrhage has been recorded in congenital factor deficiencies like hemophilia A, but it has never been documented in prothrombin deficiency. Here, we describe an unusual case of sudden vision loss in the right eye caused by subretinal hemorrhage following a coughing episode in a 67-year-old woman. Notably, the patient underwent left eye enucleation 12 years previously under similar circumstances due to subretinal hemorrhage. During the interview, it was discovered that the patient had a history of prothrombin deficiency, which was subsequently confirmed through laboratory testing. Aside from recurrent ocular bleeding and 1 instance of bleeding following dental extraction in childhood, there is no other history of bleeding. Subsequent molecular studies revealed a homozygous missense mutation at G1499A (Arg500Gln), a variant previously identified as R457Q. Although the likelihood of prothrombin deficiency initiating subretinal hemorrhage is low, it is likely to worsen retinal hemorrhage and contribute to difficulty in controlling bleeding. A comprehensive coagulation workup is essential in patients with ocular hemorrhage. Determining factor II activity should be included in individuals exhibiting variably prolonged prothrombin time and activated partial thromboplastin time with correction in mixing studies. Additional investigations, such as genetic sequencing and family studies, are advised for those with isolated low prothrombin levels.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"89-92"},"PeriodicalIF":0.0,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141857498","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
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