Objective(s): Mutations in the UGT1A1 gene are responsible for hyperbilirubinemia syndromes including Crigler-Najjar type 1 and 2 and Gilbert syndrome. In view of the genetic heterogeneity and involvement of large numbers of the disease causing mutations, the application of polymorphic markers in the UGTA1 gene could be useful in molecular diagnosis of the disease. Materials and Methods: In the...

objective(s)marfan syndrome (mfs) is a severe connective tissue disorder withan autosomal dominant inheritance pattern. early diagnosis is critical in mfs. because of the large size of fibrillin-1 gene (fbn1), the uniqueness of mutations, and the absence of genotype-to-phenotype correlations linkage analysis can be very helpful for early diagnosis of mfs. in this study, eight polymorphic marker...

Various diagnostic tests across COVID-19 literatures were employed as surrogate markers in COVID-19, wherein interleukin-6 (IL-6) - gauge for cytokine storm or impending severity is not readily available.

Biological markers for depression are of great interest to aid in elucidating the causes of major depression. We assess currently available biological markers to query their validity for aiding in the diagnosis of major depression. We specifically focus on neurotrophic factors, serotonergic markers, biochemical markers, immunological markers, neuroimaging, neurophysiological findings, and neuro...

BACKGROUND In newborn screening with tandem mass spectrometry, multiple intermediary metabolites are quantified in a single analytical run for the diagnosis of fatty-acid oxidation disorders, organic acidurias, and aminoacidurias. Published diagnostic criteria for these disorders normally incorporate a primary metabolic marker combined with secondary markers, often analyte ratios, for which the...

Introduction . The growth of primary breast tumor morbidity in the last ten years and increased number patients with disseminated cancer Republic Kazakhstan require search for methods early diagnosis malignant tumors. Determination markers epigenetic studies allows to use them as diagnostic signs presence predictors treatment effectiveness this pathology. Aim To perform a therapeutic prognostic...

PURPOSE Serum and bile tumor markers are under intense scrutiny for the diagnosis of malignant disease. The purpose of our study was to report the usefulness of serum and bile tumor markers for the discrimination between benign and malignant pancreatobiliary diseases. METHODS Between March 2010 and May 2013, 95 patients with obstructive jaundice or history of biliary obstruction, were include...

Objectives Diagnostic tests are traditionally compared for accuracy against a gold standard, but there is growing interest in tests (or biomarkers) used to guide treatment choices rather than specifically to diagnose. The question of whether health outcomes are better using one test or another in the same population can be answered with a randomised trial. It has been suggested that an efficien...

New biological markers of myocardial injury have improved the management of patients with acute coronary syndromes. Among these markers, the most relevant are the cardiac troponins (troponin I and troponin T) because of their cardiospecificity, and myoglobin because of its combination of diagnostic sensitivity and usefulness for an early diagnosis. The serial analysis and combined use of both m...