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Acquired hemophilia A secondary to SARS-CoV-2 pneumonia: a case report. 获得性血友病A继发于SARS-CoV-2肺炎1例
IF 3.3 3区 医学
Biochemia Medica Pub Date : 2022-10-01 DOI: 10.11613/BM.2022.030801
Brkić Nikolina, Milić Marija, Bekavac Marija, Marković Maja, Perković Dubravka
{"title":"Acquired hemophilia A secondary to SARS-CoV-2 pneumonia: a case report.","authors":"Brkić Nikolina,&nbsp;Milić Marija,&nbsp;Bekavac Marija,&nbsp;Marković Maja,&nbsp;Perković Dubravka","doi":"10.11613/BM.2022.030801","DOIUrl":"https://doi.org/10.11613/BM.2022.030801","url":null,"abstract":"<p><p>The acquired hemophilia A (AHA) is a life-threatening condition. The incidence of AHA is extremely low, which requires a multidisciplinary approach to diagnosis and treatment. This is case report of 73-year-old man who presented with AHA secondary to severe acute respiratory syndrome Coronavirus 2 (SARS-CoV-2) pneumonia. The patient had extensive skin bleeding and hematomas. In the coagulation screening tests activated partial thromboplastin time (APTT) was prolonged with normal prothrombin time (PT), which was indication for further investigation. The APTT in a mixing study with normal plasma did not correct so clotting factors inhibitors were suspected. With signs of bleeding, extremely low factor VIII (FVIII) activity (2%) and presence of FVIII inhibitors, AHA was diagnosed and treatment initiated. Patient was treated with factor eight inhibitor bypassing agent (FEIBA) for three days, followed by long-term corticosteroid and cyclophosphamide therapy. Malignant and autoimmune diseases as the most common causes of AHA were ruled out. The patient had a good response to therapy with gradual normalization of APTT and FVIII activity. To the best of our knowledge, the present case is the first reported case of <i>de novo</i> AHA after SARS-CoV-2 pneumonia. The diagnosis of AHA should be suspected in a patient with bleeding into the skin and mucous membranes without a previous personal and family history of bleeding, and with isolated prolonged APTT. It is important to investigate any isolated prolongation of APTT in cooperation with clinical laboratory experts.</p>","PeriodicalId":9021,"journal":{"name":"Biochemia Medica","volume":"32 3","pages":"030801"},"PeriodicalIF":3.3,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9344868/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9279042","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Evaluation of preanalytical and postanalytical phases in clinical biochemistry laboratory according to IFCC laboratory errors and patient safety specifications. 根据IFCC实验室错误和患者安全规范对临床生物化学实验室分析前和分析后阶段进行评估。
IF 3.3 3区 医学
Biochemia Medica Pub Date : 2022-10-01 DOI: 10.11613/BM.2022.030701
Nergiz Zorbozan, Orçun Zorbozan
{"title":"Evaluation of preanalytical and postanalytical phases in clinical biochemistry laboratory according to IFCC laboratory errors and patient safety specifications.","authors":"Nergiz Zorbozan,&nbsp;Orçun Zorbozan","doi":"10.11613/BM.2022.030701","DOIUrl":"https://doi.org/10.11613/BM.2022.030701","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of the study was to determine the current state of laboratory's extra-analytical phase performance by calculating preanalytical and postanalytical phase quality indicators (QIs) and sigma values and to compare obtained data according to desired quality specifications and sigma values reported by The International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) Working Group - Laboratory errors and Patient Safety.</p><p><strong>Materials and methods: </strong>Preanalytical and postanalytical phase data were obtained through laboratory information system. Rejected samples in preanalytical phase were grouped according to reasons for rejection and frequencies were calculated both monthly and for 2019. Sigma values were calculated according to \"short term sigma\" table.</p><p><strong>Results: </strong>The number of rejected samples in laboratory was 643 out of 191,831 in 2019. Total preanalytical phase rejection frequency was 0.22%. According to the reasons for rejection, QIs and sigma values were: \"Samples with excessive transportation time\": 0.0036 and 5.47; \"Samples collected in wrong container\" 0.02 and 5.11. In December, QIs and sigma values were: \"Samples with excessive transportation time\": 0.01 and 5.34; \"Samples collected in wrong container\": 0.03 and 4.98. The postanalytical QIs and sigma values were: \"Reports delivered outside the specified time\": 0.34 and 4.21; \"Turn around time of potassium\": 56 minute and 3.84, respectively. There were no errors in \"Critical values of inpatients and outpatients notified after a consensually agreed time\".</p><p><strong>Conclusions: </strong>Extra-analytical phase was evaluated by comparing it with the latest quality specifications and sigma values which will contribute to improving the quality of laboratory medicine.</p>","PeriodicalId":9021,"journal":{"name":"Biochemia Medica","volume":"32 3","pages":"030701"},"PeriodicalIF":3.3,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9344872/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9279044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Determining the SARS-CoV-2 serological immunoassay test performance indices based on the test results frequency distribution. 根据测试结果频率分布确定 SARS-CoV-2 血清免疫测定测试性能指标。
IF 3.3 3区 医学
Biochemia Medica Pub Date : 2022-06-15 DOI: 10.11613/BM.2022.020705
Farrokh Habibzadeh, Parham Habibzadeh, Mahboobeh Yadollahie, Mohammad M Sajadi
{"title":"Determining the SARS-CoV-2 serological immunoassay test performance indices based on the test results frequency distribution.","authors":"Farrokh Habibzadeh, Parham Habibzadeh, Mahboobeh Yadollahie, Mohammad M Sajadi","doi":"10.11613/BM.2022.020705","DOIUrl":"10.11613/BM.2022.020705","url":null,"abstract":"<p><strong>Introduction: </strong>Coronavirus disease 2019 (COVID-19) is known to induce robust antibody response in most of the affected individuals. The objective of the study was to determine if we can harvest the test sensitivity and specificity of a commercial serologic immunoassay merely based on the frequency distribution of the SARS-CoV-2 immunoglobulin (Ig) G concentrations measured in a population-based seroprevalence study.</p><p><strong>Materials and methods: </strong>The current study was conducted on a subset of a previously published dataset from the canton of Geneva. Data were taken from two non-consecutive weeks (774 samples from May 4-9, and 658 from June 1-6, 2020). Assuming that the frequency distribution of the measured SARS-CoV-2 IgG is binormal (an educated guess), using a non-linear regression, we decomposed the distribution into its two Gaussian components. Based on the obtained regression coefficients, we calculated the prevalence of SARS-CoV-2 infection, the sensitivity and specificity, and the most appropriate cut-off value for the test. The obtained results were compared with those obtained from a validity study and a seroprevalence population-based study.</p><p><strong>Results: </strong>The model could predict more than 90% of the variance observed in the SARS-CoV-2 IgG distribution. The results derived from our model were in good agreement with the results obtained from the seroprevalence and validity studies. Altogether 138 of 1432 people had SARS-CoV-2 IgG ≥ 0.90, the cut-off value which maximized the Youden's index. This translates into a true prevalence of 7.0% (95% confidence interval 5.4% to 8.6%), which is in keeping with the estimated prevalence of 7.7% derived from our model. Our model can provide the true prevalence.</p><p><strong>Conclusions: </strong>Having an educated guess about the distribution of test results, the test performance indices can be derived with acceptable accuracy merely based on the test results frequency distribution without the need for conducting a validity study and comparing the test results against a gold-standard test.</p>","PeriodicalId":9021,"journal":{"name":"Biochemia Medica","volume":"32 2","pages":"020705"},"PeriodicalIF":3.3,"publicationDate":"2022-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9195604/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10309220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Subfatin concentration decreases in acute coronary syndrome 急性冠状动脉综合征亚脂蛋白浓度降低
IF 3.3 3区 医学
Biochemia Medica Pub Date : 2022-04-15 DOI: 10.11613/BM.2022.020704
Mustafa YILMAZ, Mehmet Cagri Goktekin, N. Ilhan
{"title":"Subfatin concentration decreases in acute coronary syndrome","authors":"Mustafa YILMAZ, Mehmet Cagri Goktekin, N. Ilhan","doi":"10.11613/BM.2022.020704","DOIUrl":"https://doi.org/10.11613/BM.2022.020704","url":null,"abstract":"Introduction We investigated the association of serum subfatin concentration and acute myocardial infarction (AMI) in patients with ST-elevation myocardial infarction (STEMI) and non-STEMI (NSTEMI). Materials and methods In this study, patients who presented with chest pain (STEMI, NSTEMI, or non-cardiac chest pain) were included, i.e. 49 patients with non-cardiac chest pain (control) and 66 patients hospitalised with AMI. In the AMI group, 35 patients had NSTEMI and 31 had STEMI. Serum subfatin concentrations were determined via enzyme-linked immunosorbent assay (ELISA). Descriptive data on the patients and their comorbidities were recorded, and subfatin concentrations were analysed. Results Subfatin concentrations were significantly different in the control, STEMI and NSTEMI groups (P = 0.002). In addition, subfatin concentrations were significantly lower in patients in the NSTEMI group than those in the control group (P < 0.001), but there was no significant difference between STEMI and the control group (P = 0.143). The receiver operating characteristic (ROC) analysis performed for differentiating the AMI and control groups found that subfatin had 64% sensitivity and 69% specificity, whereas troponin had 59% sensitivity and 95% specificity. In patients with AMI, the ROC analysis for differentiating NSTEMI from STEMI found that subfatin had 94% sensitivity and 41% specificity, while troponin had 65% sensitivity and 88% specificity. Conclusions Subfatin concentrations were lower in patients without STEMI than in patients with STEMI. Subfatin concentration is associated with NSTEMI.","PeriodicalId":9021,"journal":{"name":"Biochemia Medica","volume":" ","pages":""},"PeriodicalIF":3.3,"publicationDate":"2022-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49492384","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
An analysis of the vitamin D overtesting in a tertiary healthcare centre 某三级医疗中心维生素D检测结果分析
IF 3.3 3区 医学
Biochemia Medica Pub Date : 2022-04-15 DOI: 10.11613/BM.2022.020701
M. Aralica, Vesna Supak Smolcic, T. Turk Wensveen, S. Hrabrić Vlah, Mihael Selar, Lidija Bilić Zulle
{"title":"An analysis of the vitamin D overtesting in a tertiary healthcare centre","authors":"M. Aralica, Vesna Supak Smolcic, T. Turk Wensveen, S. Hrabrić Vlah, Mihael Selar, Lidija Bilić Zulle","doi":"10.11613/BM.2022.020701","DOIUrl":"https://doi.org/10.11613/BM.2022.020701","url":null,"abstract":"Introduction Vitamin D testing is excessively used in clinical practice, despite of the clinical guidelines statements against population screening for vitamin D deficiency. This study aimed to assess an annual number of performed 25-hydroxy vitamin D (25(OH)D) tests that were unsupported by the national guidelines for prevention, detection and therapy of vitamin D deficiency in adults and to calculate associated financial burden for the publicly funded healthcare. Materials and methods A representative sample of requested 25(OH)D tests in 2018 (N = 474) was formed after selection and randomisation of data set (N = 5298) collected from the laboratory information system database of the Clinical Department for Laboratory Diagnostics, the Clinical Hospital Centre Rijeka. Records were classified in two groups depending on associated medical condition(s) according to the national guidelines. An annual cost of the total and group specific vitamin D testing was calculated on the base of a single test price reimbursed by the Croatian Healthcare Insurance Fund (CHIF). Results Medical conditions with high-risk for vitamin D deficiency were detected in 43% (206/474) of vitamin D requests (group 1). Conditions not associated with vitamin D deficiency were detected in 57% (268/474) requests (group 2). A total cost of 25(OH)D testing for the CHIF was 58,729.50 EUR (25,523.79 EUR in the group 1 and 33,205.71 EUR in the group 2). Conclusions More than half of all 25(OH)D tests performed in the clinical laboratory represent avoidable cost for the public healthcare. Prevention of population screening by vitamin D testing is needed.","PeriodicalId":9021,"journal":{"name":"Biochemia Medica","volume":" ","pages":""},"PeriodicalIF":3.3,"publicationDate":"2022-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42539464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Cell-in-cell phenomenon in urinary sediment: a case report 尿沉渣中细胞间现象1例报告
IF 3.3 3区 医学
Biochemia Medica Pub Date : 2022-04-15 DOI: 10.11613/BM.2022.020801
Carlos Martínez-Figueroa, K. Cortés-Sarabia, J. Poloni, Enrique Alejandro Molina-Avilez, L. Palaoro, A. Vences-Velázquez
{"title":"Cell-in-cell phenomenon in urinary sediment: a case report","authors":"Carlos Martínez-Figueroa, K. Cortés-Sarabia, J. Poloni, Enrique Alejandro Molina-Avilez, L. Palaoro, A. Vences-Velázquez","doi":"10.11613/BM.2022.020801","DOIUrl":"https://doi.org/10.11613/BM.2022.020801","url":null,"abstract":"The internalization of apoptotic cells by non-phagocytic cells has been observed in different tissues and could be an important mechanism for the elimination of dying cells. Here, we describe a probable event of phagocytosis of apoptotic cells mediated by urothelial cells in urinary sediment. A 90-years-old male patient was admitted unconscious to the hospital, visible signs included: pale skin and dry mucous membranes, presumptively diagnosed as dehydration. Blood test revealed anaemia (haemoglobin 130 g/L) and hyperglycaemia (glucose 7.8 mmol/L), urinalysis showed a picture of urinary tract infection (leukocyturia and bacteriuria). The microscopic analysis of urinary sediment revealed the presence of urothelial cells and leukocytes internalized in urothelial cells. Anti-CD68 (membrane marker of macrophages) was tested by immunocytochemistry and a negative result was observed. Based on the findings phagocytosis of apoptotic cells mediated by urothelial cells was identified. This phenomenon can be observed in urinary sediment and should not be confused with a neoplastic process since it is a physiological event of cell elimination.","PeriodicalId":9021,"journal":{"name":"Biochemia Medica","volume":" ","pages":""},"PeriodicalIF":3.3,"publicationDate":"2022-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46710388","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Long pentraxin 3 as a marker of COVID-19 severity: evidences and perspectives Long pentraxin 3作为新冠肺炎严重程度的标志物:证据和前景
IF 3.3 3区 医学
Biochemia Medica Pub Date : 2022-04-15 DOI: 10.11613/BM.2022.020901
R. Assandri, Silvia Accordino, Ciro Canetta, E. Buscarini, A. Scartabellati, Chiara Tolassi, F. Serana
{"title":"Long pentraxin 3 as a marker of COVID-19 severity: evidences and perspectives","authors":"R. Assandri, Silvia Accordino, Ciro Canetta, E. Buscarini, A. Scartabellati, Chiara Tolassi, F. Serana","doi":"10.11613/BM.2022.020901","DOIUrl":"https://doi.org/10.11613/BM.2022.020901","url":null,"abstract":"Introduction Several laboratory tests are characteristically altered in Coronavirus Disease 2019 (COVID-19), but are not totally accurate in predicting the disease outcome. The long pentraxin 3 (PTX3) is quickly released directly at inflammation sites by many immune cell types. Previous studies have shown that PTX3 correlated with disease severity in various inflammatory conditions. Our study investigated the use of PTX3 as a potential marker of COVID-19 severity and compared its performance in detecting a more severe form of the disease with that of routine laboratory parameters. Materials and methods Stored serum samples of RT-PCR confirmed COVID-19 cases that had been obtained at hospital admission were retrospectively analysed. Intensive care unit (ICU) stay was considered a surrogate endpoint of severe COVID-19. Pentraxin 3 was measured by a commercial enzyme-linked immunosorbent assay. Results A total of 96 patients were recruited from May 1st, 2020 to June 30th, 2020; 75/96 were transferred to ICU. Pentraxin 3 was higher in ICU vs non-ICU patients (35.86 vs 10.61 ng/mL, P < 0.001). Univariate and multivariate logistic regression models demonstrated that the only significant laboratory predictor of ICU stay was PTX3 (OR: 1.68 (1.19-2.29), P = 0.003), after controlling for comorbidities. The Receiver Operator Characteristic curve analysis showed that PTX3 had a higher accuracy compared to C-reactive protein (CRP), lactate dehydrogenase (LD), ferritin in identifying ICU patients (AUC of PTX3 = 0.98; CRP = 0.66; LD = 0.70; ferritin = 0.67, P < 0.001). A cut-off of PTX3 > 18 ng/mL yielded a sensitivity of 96% and a specificity of 100% in identifying patients requiring ICU. Conclusion High values of PTX3 predict a more severe COVID-19.","PeriodicalId":9021,"journal":{"name":"Biochemia Medica","volume":" ","pages":""},"PeriodicalIF":3.3,"publicationDate":"2022-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45692229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 8
Post-collection acidification of spot urine sample is not needed before measurement of electrolytes 在测量电解质之前,不需要对点尿样本进行采集后酸化
IF 3.3 3区 医学
Biochemia Medica Pub Date : 2022-04-15 DOI: 10.11613/BM.2022.020702
T. Šálek, P. Musil, M. Pšenčík, V. Palička
{"title":"Post-collection acidification of spot urine sample is not needed before measurement of electrolytes","authors":"T. Šálek, P. Musil, M. Pšenčík, V. Palička","doi":"10.11613/BM.2022.020702","DOIUrl":"https://doi.org/10.11613/BM.2022.020702","url":null,"abstract":"Introduction Kidney stone formers can have higher oxalate and phosphate salt amounts in their urine than healthy people and we hypothesized that its acidification may be useful. The study aims to compare results of urine concentrations of calcium, magnesium, and inorganic phosphorus in the midstream portion of first voided morning urine samples without (FMU) and with post-collection acidification (FMUa) in kidney stone patients. Materials and methods This is a prospective single center study. A total of 138 kidney stone patients with spot urine samples were included in the study. Urine concentrations of calcium, magnesium and inorganic phosphorus were measured with and without post-collection acidification. Acidification was performed by adding 5 µL of 6 mol/L HCl to 1 mL of urine. Results The median age (range) of all participants was 56 (18-87) years. The median paired differences between FMU and FMUa concentrations of calcium, magnesium, and inorganic phosphorus were: - 0.040 mmol/L, 0.035 mmol/L, and 0.060 mmol/L, respectively. They were statistically different: P < 0.001, P < 0.001, P = 0.004, respectively. These differences are not clinically significant because biological variations of these markers are much higher. Conclusions No clinically significant differences in urinary calcium, magnesium, and inorganic phosphorus concentrations between FMU and FMUa in patients with kidney stones were found.","PeriodicalId":9021,"journal":{"name":"Biochemia Medica","volume":" ","pages":""},"PeriodicalIF":3.3,"publicationDate":"2022-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44398254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Laboratory medicine in pandemic of COVID-19 新冠肺炎大流行中的实验医学
IF 3.3 3区 医学
Biochemia Medica Pub Date : 2022-04-15 DOI: 10.11613/BM.2022.020501
L. Tandara, P. Filipi, Daniela Šupe Domić, Branka Krešić, Ivo Ivcic, Sanda Stojanovic Stipic, Žana Rubić, M. Tandara
{"title":"Laboratory medicine in pandemic of COVID-19","authors":"L. Tandara, P. Filipi, Daniela Šupe Domić, Branka Krešić, Ivo Ivcic, Sanda Stojanovic Stipic, Žana Rubić, M. Tandara","doi":"10.11613/BM.2022.020501","DOIUrl":"https://doi.org/10.11613/BM.2022.020501","url":null,"abstract":"After the outbreak in China in the year 2019, severe acute respiratory syndrome Coronavirus 2 (SARS-CoV-2) quickly spread around the world causing a protracted pandemic. Approximately one-third of infections appear to be asymptomatic. Symptomatic disease is characterized primarily by symptoms of respiratory tract infection of varying severity. But Coronavirus Disease 2019 (COVID-19) is much more than an acute respiratory disease because SARS-CoV-2 affects many organs inducing a vast number of symptoms such as cardiovascular, neurological, gastrointestinal, dermatological, with numerous complications. Short and long-term effects of infection, severe ones, and especially mild forms of the disease which affect a huge number of patients need to be further investigated. Laboratory medicine has a crucial role in early diagnosis of the disease, recognition of the patients who need hospital care, and close monitoring of hospitalized patients to timely identify associated clinical complications as well as follow-up of patients with long-term COVID-19.","PeriodicalId":9021,"journal":{"name":"Biochemia Medica","volume":" ","pages":""},"PeriodicalIF":3.3,"publicationDate":"2022-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48851583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
A case of vitamin B12 deficiency neurological syndrome in a young adult due to late-onset cobalamin C (CblC) deficiency: a diagnostic challenge 一例由于迟发性钴胺素C (CblC)缺乏症导致的年轻成人维生素B12缺乏症神经综合征:一个诊断挑战
IF 3.3 3区 医学
Biochemia Medica Pub Date : 2022-04-15 DOI: 10.11613/BM.2022.020802
Scott Ailliet, R. Vandenberghe, Toon Schiemsky, L. van Overbeke, P. Demaerel, W. Meersseman, D. Cassiman, P. Vermeersch
{"title":"A case of vitamin B12 deficiency neurological syndrome in a young adult due to late-onset cobalamin C (CblC) deficiency: a diagnostic challenge","authors":"Scott Ailliet, R. Vandenberghe, Toon Schiemsky, L. van Overbeke, P. Demaerel, W. Meersseman, D. Cassiman, P. Vermeersch","doi":"10.11613/BM.2022.020802","DOIUrl":"https://doi.org/10.11613/BM.2022.020802","url":null,"abstract":"Vitamin B12 deficiency can present with neurologic and psychiatric symptoms without macrocytic anaemia. We describe a case of late-onset cobalamin C deficiency which typically presents with normal serum vitamin B12 concentrations, posing an additional diagnostic challenge. A 23-year-old woman with decreased muscle strength and hallucinations was diagnosed with ‘catatonic depression’ and admitted to a residential mental health facility. She was referred to our hospital for further investigation 3 months later. Heteroanamnesis revealed that the symptoms had been evolving progressively over several months. Magnetic resonance imaging (MRI) of the brain showed diffuse symmetrical white matter lesions in both hemispheres. Routine laboratory tests including vitamin B12 and folic acid were normal except for a slight normocytic, normochromic anaemia. Over the next 6 weeks her symptoms deteriorated, and she became unresponsive to stimuli. A new MRI scan showed progression of the white matter lesions. The neurologist requested plasma homocysteine (Hcys) which was more than 8 times the upper limit of normal. Further testing revealed increased methylmalonic acid and the patient was diagnosed with adult-onset cobalamin C deficiency. This case illustrates that Hcys and/or methylmalonic acid should be determined in patients presenting with neuropsychiatric symptoms suggestive of vitamin B12 deficiency with a normal serum vitamin B12 to rule out a late-onset cobalamin C deficiency.","PeriodicalId":9021,"journal":{"name":"Biochemia Medica","volume":" ","pages":""},"PeriodicalIF":3.3,"publicationDate":"2022-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45458865","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","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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