Clinica chimica acta; international journal of clinical chemistry
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Assessment of patients with suspected non-ST elevation myocardial infarction (NSTEMI) is based on cardiac troponin (cTn) levels with the 99th percentile as cut-off. However, cardiovascular risk starts already at lower troponin concentrations. We therefore, aimed to investigate the utility of 2-hour algorithms using the high-sensitivity cardiac troponin I (hs-cTnI) 97.5th percentile as cut-off which corresponds to the standard URL for most biomarkers. ⋯ The hs-cTnI 97.5th percentile integrated into 2-hour algorithms provided high diagnostic estimates and could, due to better prognostic properties serve as an alternative to the 99th percentile.
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Rare inherited metabolic diseases with neurological and gastrointestinal manifestations can be misdiagnosed as other diseases or remain as disorders with indeterminate etiologies. This study aims to provide evidence to recommend the utility of whole exome sequencing in clinical diagnosis of a rare inherited metabolic disease. ⋯ We successfully applied exome sequencing to diagnose the first reported Korean patient with CDG-Ia, which was misdiagnosed as GSD. Whole exome sequencing may prove to be the preferred strategy for analysis of clinical features that do not readily suggest a specific diagnosis, such as those observed in inherited metabolic diseases, including CDG.
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Survivin in pleural effusion is a promising marker for the diagnosis of malignant pleural effusion. ⋯ Survivin in pleural effusion has potential diagnostic value with advanced sensitivity and specificity and it can be used as adjunct tool for non-invasive diagnosis of malignant pleural effusion.
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Review Case Reports
Misdiagnosis of two cases of hereditary spherocytosis in a family and review of published reports.
Hereditary spherocytosis is usually diagnosed based on a combination of clinical and family histories, physical examination, and laboratory data. Milder or atypical cases can be difficult to diagnose. ⋯ Mild and moderate hereditary spherocytosis can be easily misdiagnosed. Assessment of total, direct, and indirect serum bilirubin, erythrocyte morphology and red cell characteristics (particularly mean corpuscular volume and mean sphered corpuscular volume) clearly distinguishes hereditary spherocytosis from autoimmune hemolytic anemia, glucose-6-phosphate dehydrogenase deficiency, thalassemia, and autoimmune hepatitis.
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Comparative Study
Evaluation of two methods to measure hemoglobin concentration among women with genetic hemoglobin disorders in Cambodia: a method-comparison study.
Genetic hemoglobin (Hb) E variants are common in Cambodia and result in an altered and unstable Hb molecule. We evaluated two methods to measure Hb concentration among individuals with and without Hb variants using a hemoglobinometer (HemoCue) and a hematology analyzer (Sysmex XT-1800i). ⋯ Bias and concordance were similar across groups, suggesting the two methods of Hb measurement were comparable. We caution field staff, researchers and policy makers in the interpretation of data and the impact that bias between methods can have on anemia prevalence rates.