Clinical Biochemist Reviews最新文献_第2页

Clinical and Laboratory Aspects of Insulin Autoantibody-Mediated Glycaemic Dysregulation and Hyperinsulinaemic Hypoglycaemia: Insulin Autoimmune Syndrome and Exogenous Insulin Antibody Syndrome. 胰岛素自身抗体介导的血糖调节异常和高胰岛素低血糖的临床和实验室方面：胰岛素自身免疫综合征和外源性胰岛素抗体综合征。

Clinical Biochemist Reviews Pub Date : 2020-12-01 DOI: 10.33176/AACB-20-00008

Tony Huynh

{"title":"Clinical and Laboratory Aspects of Insulin Autoantibody-Mediated Glycaemic Dysregulation and Hyperinsulinaemic Hypoglycaemia: Insulin Autoimmune Syndrome and Exogenous Insulin Antibody Syndrome.","authors":"Tony Huynh","doi":"10.33176/AACB-20-00008","DOIUrl":"10.33176/AACB-20-00008","url":null,"abstract":"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. The essential characteristics of the condition are glycaemic dysregulation manifesting as episodes of hyperglycaemia and unpredictable hyperinsulinaemic hypoglycaemia associated with high titres of endogenous antibodies to insulin. Although the hypoglycaemia is often life-threatening and initiation of targeted therapies critical, the diagnosis is often delayed and attributable to various factors including: the fact that existence of the condition is not universally accepted; the need to exclude surreptitious causes of hypoglycaemia; the diverse and often complex nature of the glycaemic dysregulation; and the challenge of diagnostic confirmation. Once confirmed, the available therapeutic options are expansive and the reported responses to these therapies have been variable. This review will focus on our evolving understanding, and the associated diagnostic challenges - both clinical and laboratory - of this complex condition.","PeriodicalId":34924,"journal":{"name":"Clinical Biochemist Reviews","volume":"41 3","pages":"93-102"},"PeriodicalIF":0.0,"publicationDate":"2020-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7731936/pdf/cbr-41-93.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38731069","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 8

Proceedings of the Australasian Association of Clinical Biochemistry and Laboratory Medicine's 2020 Virtual Scientific Conference. 澳大利亚临床生物化学和实验室医学协会 2020 年虚拟科学会议记录》。

Clinical Biochemist Reviews Pub Date : 2020-12-01 DOI: 10.33176/2020Abstracts

引用次数: 0

Laboratory Diagnosis of Lysosomal Diseases: Newborn Screening to Treatment. 溶酶体疾病的实验室诊断：从新生儿筛查到治疗。

Clinical Biochemist Reviews Pub Date : 2020-05-01 DOI: 10.33176/AACB-19-00037

Maria Fuller

{"title":"Laboratory Diagnosis of Lysosomal Diseases: Newborn Screening to Treatment.","authors":"Maria Fuller","doi":"10.33176/AACB-19-00037","DOIUrl":"10.33176/AACB-19-00037","url":null,"abstract":"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. None of the lysosomal diseases are screened at birth in Australia and in the absence of a family history, traditional laboratory diagnosis of the majority, involves demonstrating a deficiency of the requisite enzyme. Diagnostic confusion can arise from interpretation of the degree of residual enzyme activity causative of disease and is impractical when the disorder is not due to an enzyme deficiency per se. Advances in mass spectrometry technologies has enabled simultaneous measurement of the enzymes' substrates and their metabolites which facilitates the efficiency of diagnosis. Employing urine chemistry as a reflection of multisystemic disease, individual lysosomal diseases can be identified by a characteristic substrate pattern complicit with the enzyme deficiency. Determination of lipids in plasma allows the diagnosis of a further class of lysosomal disorders, the sphingolipids. The ideal goal would be to measure biomarkers for each specific lysosomal disorder in the one mass spectrometry-based platform to achieve a diagnosis. Confirmation of the diagnosis is usually by identifying pathogenic variants in the underlying gene, and although molecular genetic technologies can provide the initial diagnosis, the biochemistry will remain important for interpreting molecular variants of uncertain significance.","PeriodicalId":34924,"journal":{"name":"Clinical Biochemist Reviews","volume":"41 2","pages":"53-66"},"PeriodicalIF":0.0,"publicationDate":"2020-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7255311/pdf/cbr-41-53.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38031240","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Paediatric Reference Intervals: Current Status, Gaps, Challenges and Future Considerations. 儿科参考区间：现状、差距、挑战和未来考虑。

Clinical Biochemist Reviews Pub Date : 2020-05-01 DOI: 10.33176/AACB-19-00036

Monsurul Hoq, Susan Matthews, Susan Donath, John Carlin, Vera Ignjatovic, Paul Monagle

{"title":"Paediatric Reference Intervals: Current Status, Gaps, Challenges and Future Considerations.","authors":"Monsurul Hoq, Susan Matthews, Susan Donath, John Carlin, Vera Ignjatovic, Paul Monagle","doi":"10.33176/AACB-19-00036","DOIUrl":"10.33176/AACB-19-00036","url":null,"abstract":"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. Whilst these studies have improved the interpretation of paediatric test results and compliance with international accreditation (ISO15189) requirements, several gaps and challenges in translating current paediatric RIs into routine laboratory practice remain. Future priorities for paediatric RI studies include: (a) determination of the impact of discrete versus continuous RIs, analyser-specific versus harmonised RIs, and prospective collection versus data mining on the proportion of results outside the RIs; (b) understanding the clinical implications of analyser-to-analyser variation in reference values and use of evidence-based paediatric harmonised RIs where applicable; (c) adaptation of laboratory information systems to incorporate continuous RIs; (d) further understanding of the biological variation in paediatric biomarkers; (e) studies to address the paucity of accurate data for neonatal RI development; (f) periodic demonstration of RIs being clinically 'fit-for purpose'; and (g) agreement and policy updates for use of modern, best practice statistical methods in estimation of paediatric RIs. Furthermore, in vitro diagnostic manufacturers may require incentivised paediatric RI studies and publications through co-ordinated grants and collaboration at end-user sites to reduce the burden on sole users.","PeriodicalId":34924,"journal":{"name":"Clinical Biochemist Reviews","volume":"41 2","pages":"43-52"},"PeriodicalIF":0.0,"publicationDate":"2020-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7255313/pdf/cbr-41-43.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38031239","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Serum Marker Panels for Predicting Liver Fibrosis - An Update. 用于预测肝纤维化的血清标记物面板--最新进展。

Clinical Biochemist Reviews Pub Date : 2020-05-01 DOI: 10.33176/AACB-20-00002

John Joseph

引用次数: 0

Osteoporosis in South-East Asian Countries. 东南亚国家的骨质疏松症。

Clinical Biochemist Reviews Pub Date : 2020-02-01 DOI: 10.33176/AACB-19-00034

Subashini C Thambiah, Swan Sim Yeap

引用次数: 0

The Pursuit of Value in Laboratory Medicine - Progress and Challenges. 追求实验室医学的价值--进步与挑战。

Clinical Biochemist Reviews Pub Date : 2020-02-01 DOI: 10.33176/AACB-19-00035

Andrew St John

{"title":"The Pursuit of Value in Laboratory Medicine - Progress and Challenges.","authors":"Andrew St John","doi":"10.33176/AACB-19-00035","DOIUrl":"10.33176/AACB-19-00035","url":null,"abstract":"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. Thus various approaches to value determination are being explored by a number of international organisations. These organisations will be reviewed below, including one which uses the concept of a value proposition that describes in detail how a test should be implemented by measuring its clinical, operational and economic impact. All approaches for determination of value require professional leadership. There is a need for research of varying types including that related to translating global evidence into local practice, a key challenge facing laboratory medicine and healthcare generally. Another challenge is to think and act beyond the silo of the laboratory to achieve greater collaboration with those colleagues more directly involved in patient care.","PeriodicalId":34924,"journal":{"name":"Clinical Biochemist Reviews","volume":"41 1","pages":"3-11"},"PeriodicalIF":0.0,"publicationDate":"2020-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7043402/pdf/cbr-41-3.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37725272","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Hypophosphatasia: Biological and Clinical Aspects, Avenues for Therapy. 低磷酸症:生物学和临床方面，治疗途径。

Clinical Biochemist Reviews Pub Date : 2020-02-01 DOI: 10.33176/AACB-19-00031

Jean Pierre Salles

{"title":"Hypophosphatasia: Biological and Clinical Aspects, Avenues for Therapy.","authors":"Jean Pierre Salles","doi":"10.33176/AACB-19-00031","DOIUrl":"https://doi.org/10.33176/AACB-19-00031","url":null,"abstract":"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. Very severe infantile forms of HPP cause premature death as a result of respiratory insufficiency and also present with hypo-mineralisation leading to deformed limbs with, in some cases, the near-absence of bones and skull altogether. Respiratory failure, rib fractures and seizures due to vitamin B6 deficiency are indicative of a poor prognosis. Craniosynostosis is frequent. HPP leads to an unusual presentation of rickets with high levels of calcium and phosphorus, resulting in hypercalciuria, nephrocalcinosis and low ALP levels. Hypercalcaemic crisis, failure to thrive and growth retardation are concerns in infants. Fractures are common in both infantile and adult forms of the disease, concomitantly occurring with unexplained chronic pain and fatigue. Dental clinical presentations, which include the premature loss of teeth, are also commonly found in HPP and specifically manifest as odontohypophosphatasia. A novel enzyme therapy for human HPP, asfotase alfa, which is specifically targeted to mineralised tissues, has been developed in the past decades. While this treatment seems very promising, especially for infantile HPP, many questions regarding its long-term effects, the management of treatment, and any potential secondary adverse effects remain unresolved.","PeriodicalId":34924,"journal":{"name":"Clinical Biochemist Reviews","volume":"41 1","pages":"13-27"},"PeriodicalIF":0.0,"publicationDate":"2020-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7043401/pdf/cbr-41-13.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37725274","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 32

Carbohydrate Intolerance and Disaccharidase Measurement - a Mini-Review. 碳水化合物不耐受性和双糖酶测定——一项小型综述。

Clinical Biochemist Reviews Pub Date : 2019-11-01 DOI: 10.33176/AACB-19-00025

Matthew Burke

引用次数: 10

Practical Aspects in Genetic Testing for Cardiomyopathies and Channelopathies. 心肌病和通道病基因检测的实践方面。

Clinical Biochemist Reviews Pub Date : 2019-11-01 DOI: 10.33176/AACB-19-00030

Han-Chih Hencher Lee, Chor-Kwan Ching

引用次数: 9