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EJIFCC

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https://www.readbyqxmd.com/read/28439222/hemochromatosis-erythrocytosis-and-the-jak2-p-v617f-mutation
#1
EDITORIAL
Stephen E Langabeer
No abstract text is available yet for this article.
March 2017: EJIFCC
https://www.readbyqxmd.com/read/28439221/congenital-hyperinsulinism-caused-by-a-de-novo-mutation-in-the-abcc8-gene-a-case-report
#2
Zsuzsanna Molnár, Lfdia Balogh, János Kappelmayer, László Madar, Éva Gombos, István Balogh
Congenital hyperinsulinism (CHI) is a rare genetic disorder characterized by inappropriate insulin secretion and severe hypoglycaemia. There are two histological subtypes: diffuse and focal form. Diffuse form is most common in autosomal recessive mutations in ABCC8/KCNJ11 gene, while focal CHI is caused a paternally inherited mutation and a somatic maternal allele loss. Here we report a case of a term male infant presented with severe hyperinsulinaemic hypoglycaemia. Gene panel testing was performed to give rapid genetic diagnosis...
March 2017: EJIFCC
https://www.readbyqxmd.com/read/28439220/pediatric-reference-intervals-for-transferrin-saturation-in-the-caliper-cohort-of-healthy-children-and-adolescents
#3
Victoria Higgins, Man Khun Chan, Khosrow Adeli
BACKGROUND: Transferrin saturation reference intervals specific for age and sex have not been previously reported for the pediatric population. The reference values for transferrin saturation have been previously reported to be lower in children compared to adults, caused by a combination of low serum iron and high serum transferrin levels in children, warranting specific reference intervals. Here we use the original iron and transferrin data from the CALIPER cohort to establish age- and sex-specific pediatric reference intervals for transferrin saturation...
March 2017: EJIFCC
https://www.readbyqxmd.com/read/28439219/the-utility-of-csf-for-the-diagnosis-of-primary-and-secondary-monoamine-neurotransmitter-deficiencies
#4
A B Burlina, A Celato, G Polo, C Edini, A P Burlina
Biogenic amine defects constitute a complex and expanding group of neurotransmitter disorders affecting cognitive, motor and autonomic system development, mostly in the pediatric age. In recent years different enzymatic defects have been identified impairing the tetrahydrobiopterin cofactor pathway and/or biogenic amine synthesis, catabolism and transport, with subsequent new disease entities described. The lumbar puncture, with subsequent withdrawal of cerebrospinal fluid (CSF), remains a key step in the diagnostic procedure...
March 2017: EJIFCC
https://www.readbyqxmd.com/read/28439218/pediatric-reference-intervals-for-biochemical-markers-gaps-and-challenges-recent-national-initiatives-and-future-perspectives
#5
Houman Tahmasebi, Victoria Higgins, Angela W S Fung, Dorothy Truong, Nicole M A White-Al Habeeb, Khosrow Adeli
Reference intervals provide valuable information to medical practitioners in their interpretation of quantitative laboratory test results, and are critical in the assessment of patient health and in clinical decision-making. The reference interval serves as a health-associated benchmark with which to compare an individual test result. While the concept of reference intervals and their utility appear straightforward, the process of establishing accurate and reliable reference intervals is considerably complex and involved...
March 2017: EJIFCC
https://www.readbyqxmd.com/read/28439217/pediatric-metabolic-syndrome-pathophysiology-and-laboratory-assessment
#6
Victoria Higgins, Khosrow Adeli
Pediatric overweight and obesity is an emerging public health priority as rates have rapidly increased worldwide. Obesity is often clustered with other metabolic abnormalities including hypertension, dyslipidemia, and insulin resistance, leading to increased risk of cardiovascular disease. This cluster of risk factors, termed the metabolic syndrome, has traditionally been reported in adults. However, with the increased prevalence of pediatric obesity, the metabolic syndrome is now evident in children and adolescents...
March 2017: EJIFCC
https://www.readbyqxmd.com/read/28439216/pediatric-obesity-and-cardiometabolic-disorders-risk-factors-and-biomarkers
#7
E Levy, A K Saenger, M W Steffes, E Delvin
Obesity remains the most prevailing disorder in childhood males and females worldwide. Its high prevalence markedly predisposes children to insulin resistance, hypertension, hyperlipidemia and liver disorders while enhancing the risk of type 2 diabetes and cardiovascular diseases. In this review, the relationship of obesity with genetic and environmental factors will be described and the underlined causes will briefly be reported. As obesity in children constitutes an increasingly health concern, important potential biomarkers have been discussed for the diagnosis, treatment and follow-up of the wide range of overweight-related complications...
March 2017: EJIFCC
https://www.readbyqxmd.com/read/28439215/recent-advances-in-pediatric-laboratory-medicine
#8
EDITORIAL
(no author information available yet)
No abstract text is available yet for this article.
March 2017: EJIFCC
https://www.readbyqxmd.com/read/28439214/foreword-of-the-editor
#9
EDITORIAL
(no author information available yet)
No abstract text is available yet for this article.
March 2017: EJIFCC
https://www.readbyqxmd.com/read/28149267/successful-iso-15189-accreditation-in-the-bethzatha-advanced-medical-laboratory-in-ethiopia
#10
Nardos Abebe
No abstract text is available yet for this article.
December 2016: EJIFCC
https://www.readbyqxmd.com/read/28149266/national-external-quality-assurance-program-pakistan-neqapp-a-milestone-in-proficiency-testing-in-pakistan
#11
Muhammad Usman Munir, Aamir Ijaz
OBJECTIVE: The objective of this study was to highlight current status and importance of National External Quality Assurance Program Pakistan (NEQAPP). Study Design: Cross sectional study. PLACE AND DURATION OF STUDY: Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology (AFIP) from August to October 2015. METHODS: The study data was extracted from electronic NEQAPP database. Results from 2014-2015 were evaluated for clinical chemistry, hematology, microbiology, and immunoassay programs...
December 2016: EJIFCC
https://www.readbyqxmd.com/read/28149265/progress-in-metabolomics-standardisation-and-its-significance-in-future-clinical-laboratory-medicine
#12
Daniel A Dias, Therese Koal
Today, the technology of 'targeted' based metabolomics is pivotal in the clinical analysis workflow as it provides information of metabolic phenotyping (metabotypes) by enhancing our understanding of metabolism of complex diseases, biomarker discovery for disease development, progression, treatment, and drug function and assessment. This review is focused on surveying and providing a gap analysis on metabolic phenotyping with a focus on targeted based metabolomics from an instrumental, technical point-of-view discussing the state-of-the-art instrumentation, pre- to post- analytical aspects as well as an overall future necessity for biomarker discovery and future (pre-) clinical routine application...
December 2016: EJIFCC
https://www.readbyqxmd.com/read/28149264/serum-insulin-like-growth-factor-i-quantitation-by-mass-spectrometry-insights-for-protein-quantitation-with-this-technology
#13
Richard Kin Ting Kam, Chung Shun Ho, Michael Ho Ming Chan
Liquid chromatography mass spectrometry (LC-MS) is a widely used technique in the clinical laboratory, especially for small molecule quantitation in biological specimens, for example, steroid hormones and therapeutic drugs. Analysis of circulating macromolecules, including proteins and peptides, is largely dominated by traditional enzymatic, spectrophotometric, or immunological assays in clinical laboratories. However, these methodologies are known to be subjected to interfering substances, for example heterophilic antibodies, as well as subjected to non-specificity issues...
December 2016: EJIFCC
https://www.readbyqxmd.com/read/28149263/advantages-and-challenges-of-dried-blood-spot-analysis-by-mass-spectrometry-across-the-total-testing-process
#14
Rosita Zakaria, Katrina J Allen, Jennifer J Koplin, Peter Roche, Ronda F Greaves
INTRODUCTION: Through the introduction of advanced analytical techniques and improved throughput, the scope of dried blood spot testing utilising mass spectrometric methods, has broadly expanded. Clinicians and researchers have become very enthusiastic about the potential applications of dried blood spot based mass spectrometric applications. Analysts on the other hand face challenges of sensitivity, reproducibility and overall accuracy of dried blood spot quantification. In this review, we aim to bring together these two facets to discuss the advantages and current challenges of non-newborn screening applications of dried blood spot quantification by mass spectrometry...
December 2016: EJIFCC
https://www.readbyqxmd.com/read/28149262/mass-spectrometry-applications-for-toxicology
#15
Michael M Mbughuni, Paul J Jannetto, Loralie J Langman
Toxicology is a multidisciplinary study of poisons, aimed to correlate the quantitative and qualitative relationships between poisons and their physiological and behavioural effects in living systems. Other key aspects of toxicology focus on elucidation of the mechanisms of action of poisons and development of remedies and treatment plans for associated toxic effects. In these endeavours, Mass spectrometry (MS) has become a powerful analytical technique with a wide range of application used in the Toxicological analysis of drugs, poisons, and metabolites of both...
December 2016: EJIFCC
https://www.readbyqxmd.com/read/28149261/recent-advances-in-the-clinical-application-of-mass-spectrometry
#16
EDITORIAL
(no author information available yet)
No abstract text is available yet for this article.
December 2016: EJIFCC
https://www.readbyqxmd.com/read/28149260/foreword-of-the-editor
#17
(no author information available yet)
No abstract text is available yet for this article.
December 2016: EJIFCC
https://www.readbyqxmd.com/read/27683538/emerging-and-disruptive-technologies
#18
Larry J Kricka
Several emerging or disruptive technologies can be identified that might, at some point in the future, displace established laboratory medicine technologies and practices. These include increased automation in the form of robots, 3-D printing, technology convergence (e.g., plug-in glucose meters for smart phones), new point-of-care technologies (e.g., contact lenses with sensors, digital and wireless enabled pregnancy tests) and testing locations (e.g., Retail Health Clinics, new at-home testing formats), new types of specimens (e...
August 2016: EJIFCC
https://www.readbyqxmd.com/read/27683537/st2-and-galectin-3-ready-for-prime-time
#19
Wouter C Meijers, A Rogier van der Velde, Rudolf A de Boer
ST2 and galectin-3 are emerging biomarkers in the field of heart failure and have been extensively studied, and that whether they provide additional prognostic value on top of the clinical models and the gold standard in HF, (NT-pro)BNP. Our aim was to provide a comprehensive review of these emerging HF-related biomarkers in chronic, acute and incident heart failure. Regardless of the type of heart failure, both biomarkers seem to have an additional effect on top of the clinical model including natriuretic peptides...
August 2016: EJIFCC
https://www.readbyqxmd.com/read/27683536/soluble-st2-and-galectin-3-what-we-know-and-don-t-know-analytically
#20
Thomas Mueller, Benjamin Dieplinger
The proteins soluble ST2 (sST2) and galectin-3 are currently gaining mounting interest as candidate biomarkers in cardiac disease. Both, sST2 and galectin-3 have been included in the 2013 ACCF/AHA guideline for additive risk stratification of patients with acute and chronic heart failure. The aim of this review is to provide information on analytical considerations of measuring circulating sST2 and galectin-3 including knowledge on in vitro stability, biological variation and reference ranges of both analytes...
August 2016: EJIFCC
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