Clinical Biochemist. Reviews

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Direct measurement of the nonapeptide vasopressin has been limited by analyte instability ex vivo and in vivo rapid degradation, low serum concentrations requiring a sensitive assay and inherent secretory pulsatility. Copeptin is a 39 amino acid glycopeptide cleavage product of vasopressin synthesis with high stability, providing a marker of vasopressin secretion. Copeptin measurement has applications in diagnosis of diabetes insipidus and other diseases with altered vasopressin secretion. This review summarises our current understanding of serum copeptin measurement in diabetes insipidus and possible future applications of copeptin assays...

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Serum procollagen type I N-propeptide (PINP) is designated the reference marker of bone formation in osteoporosis; the reference marker for resorption is C-terminal telopeptide of type I collagen (CTX). PINP has very low circadian and biological variation, is not affected by food intake, and is very stable in serum after venepuncture. The two automated commercial assays for PINP provide similar results in subjects with normal renal function, allowing reference intervals to be used interchangeably. Bone turnover markers (BTM) are currently not recommended for fracture risk assessment and therefore not included in fracture risk calculators...

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Vitamin D is essential for bone health and is known to be involved in immunomodulation and cell proliferation. Vitamin D status remains a significant health issue worldwide. However, there has been no clear consensus on vitamin D deficiency and its measurement in serum, and clinical practice of vitamin D deficiency treatment remains inconsistent. The major circulating metabolite of vitamin D, 25-hydroxyvitamin D (25(OH)D), is widely used as a biomarker of vitamin D status. Other metabolic pathways are recognised as important to vitamin D function and measurement of other metabolites may become important in the future...

Autoimmune glycaemic dysregulation and hyperinsulinaemic hypoglycaemia mediated by insulin autoantibodies is an increasingly recognised but controversial phenomenon described in both exogenous insulin naïve (insulin autoimmune syndrome) and exposed (exogenous insulin antibody syndrome) individuals. There has been a significant proliferation of case reports, clinical studies and reviews in the medical literature in recent years which have collectively highlighted the discrepancy between experts in the field with regard to the nomenclature, definition, proposed pathophysiology, as well as the clinical and biochemical diagnostic criteria associated with the condition...

Group testing, also known as pooled sample testing, was first proposed by Robert Dorfman in 1943. While sample pooling has been widely practiced in blood-banking, it is traditionally seen as anathema for clinical laboratories. However, the ongoing COVID-19 pandemic has re-ignited interest for group testing among clinical laboratories to mitigate supply shortages. We propose five criteria to assess the suitability of an analyte for pooled sample testing in general and outline a practical approach that a clinical laboratory may use to implement pooled testing for SARS-CoV-2 PCR testing...

Fibrosis prediction is an essential part of the assessment and management of patients with chronic liver disease. Traditionally the gold standard for assessment of fibrosis is liver biopsy, but it suffers from various limitations including risk of patient injury and sampling error. As a result, noninvasive tests of hepatic fibrosis have been used in patients with chronic liver disease due to conditions such as hepatitis B and C, and alcoholic and non-alcoholic fatty liver disease. With the advent of new direct-acting antivirals, hepatic fibrosis staging is an important component of treatment decisions in the care of patients with chronic hepatitis C virus infection...

The goal of screening programs for inborn errors of metabolism (IEM) is early detection and timely intervention to significantly reduce morbidity, mortality and associated disabilities. Phenylketonuria exemplifies their success as neonates are identified at birth and then promptly treated allowing normal neurological development. Lysosomal diseases comprise about 50 IEM arising from a deficiency in a protein required for proper lysosomal function. Typically, these defects are in lysosomal enzymes with the concomitant accumulation of the enzyme's substrate as the cardinal feature...

Establishing paediatric reference intervals (RIs) is a challenging task due to difficulties in subject recruitment, collection of adequate blood volume, and the inherent physiological changes of many biomarkers with age. Despite these challenges, several national and international initiatives have demonstrated: (a) the feasibility of prospectively designed paediatric RI studies; (b) the development of continuous RIs; and (c) the comparison of reference values across analyser types to harmonise paediatric RIs...

Osteoporosis (OP) is a condition where there is low bone density and microarchitectural deterioration which can predispose to fragility fractures. There is a wealth of literature on OP from the developed countries, but less so from Asia. This review will explore the field of OP research in South-East Asia with regard to the epidemiology, the diagnosis of OP and the role of laboratory tests in the management of OP, with emphasis on 25-dihydroxyvitamin D and bone turnover markers.

Hypophosphatasia (HPP) is a rare inherited systemic metabolic disease caused by mutations in the tissue-nonspecific alkaline phosphatase ( TNSALP ) gene. TNSALP is expressed in the liver, kidney and bone, and its substrates include TNSALP inorganic pyrophosphate, pyridoxal-5'-phosphate (PLP)/vitamin B6 and phosphoethanolamine (PEA). Autosomal recessive and dominant forms of the disease result in a range of clinical entities. Major hallmarks are low alkaline phosphatase (ALP) and elevated PLP and PEA levels...

The pressure on healthcare budgets including laboratory medicine is relentless and the focus on activities and costs remains the dominant funding model of laboratory medicine everywhere. The limitations of this model are well documented and for a decade or more laboratory professions worldwide have started looking at alternative models where the value of laboratory medicine and its impact on patient outcomes are the predominant driving force. There are multiple ways to determine the value of a medical test, particularly if one takes into consideration its impact upon the complete clinical pathway...

The diagnosis of acute myocardial injury requires a rise and/or fall of cardiac troponin (cTn) on serial testing, with at least one concentration above the 99th percentile value of a normal reference population according to the recently published Fourth Universal Definition of Myocardial Infarction .1 However, the magnitude of change in cTn that constitutes a significant rise and/or fall was again not specified in detail. High-sensitivity cardiac troponin (hs-cTn) assays can measure ten-fold lower concentrations of cTn with more precision than older assays, and can accurately quantify cTn in more than 50% of healthy individuals with a coefficient of variation of less than 10% at the 99th percentile...

Genetic testing has an increasingly important role in the diagnosis and management of cardiac disorders, where it confirms the diagnosis, aids prognostication and risk stratification and guides treatment. A genetic diagnosis in the proband also enables clarification of the risk for family members by cascade testing. Genetics in cardiac disorders is complex where epigenetic and environmental factors might come into interplay. Incomplete penetrance and variable expressivity is also common. Genetic results in cardiac conditions are mostly probabilistic and should be interpreted with all available clinical information...

Superwarfarins are long-acting anticoagulant rodenticides developed from warfarin. The mechanism of action is by inhibition of vitamin K epoxide reductase, resulting in the inability of the body to recycle vitamin K. Deficiency of vitamin K thereafter leads to inability for the body to synthesise vitamin K-dependent coagulation factors, factor II, VII, IX, and X, leading to prolonged prothrombin time. Due to the bulky aromatic sidechains, superwarfarins have a much longer half-life when compared to warfarin, and exposure to superwarfarins results in a prolonged period of anticoagulation which can result in clinical bleeding...

Carbohydrate intolerance is one of several syndromes and diseases which together are known as malabsorption syndromes. These include small intestinal bacterial overgrowth (SIBO), coeliac disease, intestinal lymphangiectasia, short bowel syndrome, tropical sprue and some inherited metabolic disorders such as galactosaemia and pyruvate kinase deficiency. Specifically, the malabsorption of sugars affects morbidity for millions of sufferers across the world. Disaccharidase measurement is used in the investigation of disorders of the gastrointestinal tract...

Emerging findings suggest that exposure to ultraviolet wavelengths of sunlight modulates metabolic function. Here we review the metabolic effects of exposure to ultraviolet radiation (UVR), focusing on the effects of phototherapies (that administer UVR), and advice to increase sun exposure in individuals enrolled in clinical trials and intervention studies. We identified 25 studies in which the effects of UVR on metabolic outcomes were examined, including: narrowband ultraviolet B phototherapy (nbUVB, n = 12); psoralen ultraviolet A phototherapy (n = 4); other types of UVR phototherapy (n = 5); and sun exposure advice (n = 5)...

The screening of biological samples for the presence of illicit or legal substances is an important frontline tool in both clinical and forensic toxicology. In the clinical setting, drug screening is a useful tool for the clinician in improving patient care and guiding treatment. Analytical approaches for the screening of drugs in biological samples are extensive and well documented, though many rapid screening techniques often lack appropriate sensitivity and specificity, requiring careful clinical interpretation...