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https://www.readbyqxmd.com/read/29154197/investigation-of-the-effect-of-blood-hematocrit-and-lipid-content-on-the-blood-volume-deposited-by-a-disposable-dried-blood-spot-collection-device
#1
N Spooner, A Olatunji, K Webbley
When using dried blood spot (DBS) sampling for the quantitative bioanalysis of circulating concentrations of drugs, metabolites and endogenous analytes, it is important that a fixed volume of blood is deposited to overcome the issues associated with blood hematocrit (HCT) and homogeneity. The volumetric performance of the KTH DBS collection device was tested with radiolabelled [(14)C]-diclofenac. It was demonstrated that the device deposits a fixed volume of blood (13.5μL) regardless of the HCT (25-65%), or lipid content of the blood sample...
November 14, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/29149851/identification-of-gaa-variants-through-whole-exome-sequencing-targeted-to-a-cohort-of-606-patients-with-unexplained-limb-girdle-muscle-weakness
#2
Katherine Johnson, Ana Töpf, Marta Bertoli, Lauren Phillips, Kristl G Claeys, Vidosava Rakocevic Stojanovic, Stojan Perić, Andreas Hahn, Paul Maddison, Ela Akay, Alexandra E Bastian, Anna Łusakowska, Anna Kostera-Pruszczyk, Monkol Lek, Liwen Xu, Daniel G MacArthur, Volker Straub
BACKGROUND: Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by a primary deficiency of α-glucosidase and the associated accumulation of glycogen in lysosomal vacuoles. The deficiency of α-glucosidase can often be detected using an inexpensive and readily accessible dried blood spot test when Pompe disease is suspected. Like several neuromuscular disorders, Pompe disease typically presents with progressive weakness of limb-girdle muscles and respiratory insufficiency...
November 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29149735/carbamazepine-lamotrigine-levetiracetam-and-valproic-acid-in-dried-blood-spots-with-liquid-chromatography-tandem-mass-spectrometry-method-development-and-validation
#3
Camilla Linder, Anna Hansson, Sara Sadek, Lars L Gustafsson, Anton Pohanka
Monitoring of antiepileptic drugs in children with epilepsy require multiple visits at a clinic for blood collection. Dried blood spot sampling is an alternative way of collection, performed at home by self-collection and can save time and costs for patients and family members. The aim was to develop and validate an LC-MS/MS dried blood spot method for carbamazepine, lamotrigine, levetiracetam and valproic acid with the requirements of using standard equipment and material in a routine laboratory setting. Whatman-903 filter paper was utilized, and discs were punched into a 96 well plate with an automated puncher and barcode reading...
November 4, 2017: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/29143676/the-future-of-viral-hepatitis-testing-innovations-in-testing-technologies-and-approaches
#4
REVIEW
Rosanna W Peeling, Debrah I Boeras, Francesco Marinucci, Philippa Easterbrook
A large burden of undiagnosed hepatitis virus cases remains globally. Despite the 257 million people living with chronic hepatitis B virus infection, and 71 million with chronic viraemic HCV infection, most people with hepatitis remain unaware of their infection. Advances in rapid detection technology have created new opportunities for enhancing access to testing and care, as well as monitoring of treatment. This article examines a range of other technological innovations that can be leveraged to provide more affordable and simplified approaches to testing for HBV and HCV infection and monitoring of treatment response...
November 1, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/29143672/diagnostic-accuracy-of-serological-diagnosis-of-hepatitis-c-and-b-using-dried-blood-spot-samples-dbs-two-systematic-reviews-and-meta-analyses
#5
Berit Lange, Jennifer Cohn, Teri Roberts, Johannes Camp, Jeanne Chauffour, Nina Gummadi, Azumi Ishizaki, Anupriya Nagarathnam, Edouard Tuaillon, Philippe van de Perre, Christine Pichler, Philippa Easterbrook, Claudia M Denkinger
BACKGROUND: Dried blood spots (DBS) are a convenient tool to enable diagnostic testing for viral diseases due to transport, handling and logistical advantages over conventional venous blood sampling. A better understanding of the performance of serological testing for hepatitis C (HCV) and hepatitis B virus (HBV) from DBS is important to enable more widespread use of this sampling approach in resource limited settings, and to inform the 2017 World Health Organization (WHO) guidance on testing for HBV/HCV...
November 1, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/29143616/diagnostic-accuracy-of-detection-and-quantification-of-hbv-dna-and-hcv-rna-using-dried-blood-spot-dbs-samples-a-systematic-review-and-meta-analysis
#6
Berit Lange, Teri Roberts, Jennifer Cohn, Jamie Greenman, Johannes Camp, Azumi Ishizaki, Luke Messac, Edouard Tuaillon, Philippe van de Perre, Christine Pichler, Claudia M Denkinger, Philippa Easterbrook
BACKGROUND: The detection and quantification of hepatitis B (HBV) DNA and hepatitis C (HCV) RNA in whole blood collected on dried blood spots (DBS) may facilitate access to diagnosis and treatment of HBV and HCV infection in resource-poor settings. We evaluated the diagnostic performance of DBS compared to venous blood samples for detection and quantification of HBV-DNA and HCV-RNA in two systematic reviews and meta-analyses on the diagnostic accuracy of HBV DNA and HCV RNA from DBS compared to venous blood samples...
November 1, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/29143201/newborn-screening-for-lysosomal-storage-disorders-by-tandem-mass-spectrometry-in-north-east-italy
#7
Alberto B Burlina, Giulia Polo, Leonardo Salviati, Giovanni Duro, Carmela Zizzo, Andrea Dardis, Bruno Bembi, Chiara Cazzorla, Laura Rubert, Roberta Zordan, Robert J Desnick, Alessandro P Burlina
BACKGROUND: Lysosomal storage diseases (LSDs) are inborn errors of metabolism resulting from 50 different inherited disorders. The increasing availability of treatments and the importance of early intervention have stimulated newborn screening (NBS) to diagnose LSDs and permit early intervention to prevent irreversible impairment or severe disability. We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, and Gaucher diseases...
November 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29136283/population-pk-analyses-of-ubrogepant-mk-1602-a-cgrp-receptor-antagonist-enriching-in-clinic-plasma-pk-sampling-with-outpatient-dried-blood-spot-sampling
#8
Chi-Chung Li, Marissa Dockendorf, Ken Kowalski, Bei Yang, Yang Xu, Iris Xie, Huub Jan Kleijn, Rolien Bosch, Christopher Jones, Bob Thornton, Eugene E Marcantonio, Tiffini Voss, Kevin P Bateman, Prajakti A Kothare
Merck & Co., Inc. (Kenilworth, New Jersey) has recently published an integrated strategy for implementation of dried blood spots (DBS) in late-stage trials for population pharmacokinetic (PK) modeling. We applied this strategy for another late-stage clinical program: ubrogepant (MK-1602), a novel oral calcitonin gene-related peptide receptor antagonist for acute treatment of migraine. At the time of implementation, ubrogepant was entering phase 2 development. DBS was implemented to acquire PK information proximal to an acute migraine event to enable exposure-response modeling...
November 14, 2017: Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29121931/individual-and-household-characteristics-of-persons-with-plasmodium-falciparum-malaria-in-sites-with-varying-endemicities-in-kinshasa-province-democratic-republic-of-the-congo
#9
Melchior Kashamuka Mwandagalirwa, Lauren Levitz, Kyaw L Thwai, Jonathan B Parr, Varun Goel, Mark Janko, Antoinette Tshefu, Michael Emch, Steven R Meshnick, Margaret Carrel
BACKGROUND: The Democratic Republic of the Congo (DRC) bears a large share of global malaria burden despite efforts to control and eliminate the disease. More detailed understanding of individual and household level characteristics associated with malaria are needed, as is an understanding of how these characteristics vary spatiotemporally and across different community-level malaria endemicities. An ongoing study in Kinshasa Province is designed to address gaps in prior malaria surveillance in the DRC by monitoring malaria across seasons, age groups and in high and low malaria sites...
November 9, 2017: Malaria Journal
https://www.readbyqxmd.com/read/29115708/cyp3a5-genotype-and-its-impact-on-vincristine-pharmacokinetics-and-development-of-neuropathy-in-kenyan-children-with-cancer
#10
Jodi L Skiles, ChienWei Chiang, Claire H Li, Steve Martin, Ellen L Smith, Gilbert Olbara, David R Jones, Terry A Vik, Saskia Mostert, Floor Abbink, Gertjan J Kaspers, Lang Li, Festus Njuguna, Tammy J Sajdyk, Jamie L Renbarger
BACKGROUND: Vincristine (VCR) is a critical part of treatment in pediatric malignancies and is associated with dose-dependent peripheral neuropathy (vincristine-induced peripheral neuropathy [VIPN]). Our previous findings show VCR metabolism is regulated by the CYP3A5 gene. Individuals who are low CYP3A5 expressers metabolize VCR slower and experience more severe VIPN as compared to high expressers. Preliminary observations suggest that Caucasians experience more severe VIPN as compared to nonCaucasians...
November 8, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29113123/high-neonatal-blood-iron-content-is-associated-with-the-risk-of-childhood-type-1-diabetes-mellitus
#11
Julie Nyholm Kyvsgaard, Anne Julie Overgaard, Steffen Ullitz Thorsen, Thomas Hesselhøj Hansen, Christian Bressen Pipper, Henrik Bindesbøl Mortensen, Flemming Pociot, Jannet Svensson
(1) Background: Iron requirement increases during pregnancy and iron supplementation is therefore recommended in many countries. However, excessive iron intake may lead to destruction of pancreatic β-cells. Therefore, we aim to test if higher neonatal iron content in blood is associated with the risk of developing type 1 diabetes mellitus (T1D) in childhood; (2) Methods: A case-control study was conducted, including 199 children diagnosed with T1D before the age of 16 years from 1991 to 2005 and 199 controls matched on date of birth...
November 6, 2017: Nutrients
https://www.readbyqxmd.com/read/29112898/development-and-validation-of-an-analytical-method-using-uplc-ms-ms-to-quantify-everolimus-in-dried-blood-spots-in-the-oncology-setting
#12
Lotte M Knapen, Yvo de Beer, Roger J M Brüggemann, Leo M Stolk, Frank de Vries, Vivianne C G Tjan-Heijnen, Nielka P van Erp, Sander Croes
While the therapeutic drug monitoring (TDM) of everolimus has been routinely performed for over 10 years in solid organ transplantation medicine, in order to optimize the balance between effectiveness and toxicity, it is yet uncommon in the treatment of malignancies. The aim of this study was to develop and validate a bioanalytical method to quantify everolimus in dried blood spots (DBS) to facilitate TDM for the oncology outpatient setting. The hematocrit effect of everolimus was investigated. An 7.5mm disk from the central part of the DBS was punched, followed by the extraction of everolimus from the DBS by methanol/acetonitrile (80/20%) spiked with deuterium-labelled everolimus as internal standard...
October 29, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/29109428/serial-omics-of-p53-brca1-mouse-breast-tumor-and-normal-mammary-gland
#13
Susanne B Breitkopf, Mateus De Oliveira Taveira, Min Yuan, Gerburg M Wulf, John M Asara
This study demonstrates a liquid-liquid extraction for the sequential tandem mass spectrometry (LC-MS/MS) analysis of non-polar lipids, polar metabolites, proteins and phosphorylation sites from a single piece of tissue. Extraction of 10 mg BRCA-/-, p53-/- breast tumor tissue or normal mammary gland tissue with methyl-tert-butyl ether (MTBE) results in three phases: an upper non-polar phase containing 1,382 lipids, a lower polar phase with 805 metabolites and a precipitated protein pellet with 4,792 proteins with 1,072 phosphorylation sites...
November 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29104765/postnatal-gestational-age-estimation-using-newborn-screening-blood-spots-a-proposed-validation-protocol
#14
Malia S Q Murphy, Steven Hawken, Katherine M Atkinson, Jennifer Milburn, Jesmin Pervin, Courtney Gravett, Jeffrey S A Stringer, Anisur Rahman, Eve Lackritz, Pranesh Chakraborty, Kumanan Wilson
Background: Knowledge of gestational age (GA) is critical for guiding neonatal care and quantifying regional burdens of preterm birth. In settings where access to ultrasound dating is limited, postnatal estimates are frequently used despite the issues of accuracy associated with postnatal approaches. Newborn metabolic profiles are known to vary by severity of preterm birth. Recent work by our group and others has highlighted the accuracy of postnatal GA estimation algorithms derived from routinely collected newborn screening profiles...
2017: BMJ Global Health
https://www.readbyqxmd.com/read/29100779/tandem-mass-spectrometry-assay-of-%C3%AE-glucocerebrosidase-activity-in-dried-blood-spots-eliminates-false-positives-detected-in-fluorescence-assay
#15
Pavlina Wolf, Roy N Alcalay, Christopher Liong, Emmaline Cullen, Michael W Pauciulo, William C Nichols, Ziv Gan-Or, Wendy K Chung, Tina Faulkner, Christopher Bentis, Robert J Pomponio, Xiwen Ma, X Kate Zhang, Joan M Keutzer, Petra Oliva
Deficiency of β-Glucocerebrosidase (GBA) activity causes Gaucher Disease (GD). GD can be diagnosed by measuring GBA activity (Beutler and Kuhl, 1990). In this study, we assayed dried blood spots from a cohort (n=528) enriched for GBA mutation carriers (n=78) and GD patients (n=18) using both the tandem mass spectrometry (MS/MS) and fluorescence assays and their respective synthetic substrates. The MS/MS assay differentiated normal controls, which included GBA mutation carriers, from GD patients with no overlap...
October 23, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29100029/validation-of-an-lc-ms-ms-assay-to-simultaneously-monitor-the-intracellular-active-metabolites-of-tenofovir-emtricitabine-and-lamivudine-in-dried-blood-spots
#16
Amanda P Schauer, Craig Sykes, Mackenzie L Cottrell, Heather Prince, Angela D M Kashuba
The ability to monitor adherence to antiretroviral therapy is critical for the interpretation of outcomes from clinical studies of HIV, and for optimizing patient care. The antiretrovirals tenofovir (TFV), emtricitabine (FTC), and lamivudine (3TC) are commonly included in drug regimens for HIV prevention and treatment. The active form of the drugs tenofovir diphosphate (TFVdp), emtricitabine triphosphate (FTCtp), and lamivudine triphosphate (3TCtp) are found intracellularly in erythrocytes and peripheral blood mononuclear cells (PBMCs)...
October 31, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/29097248/large-proportion-of-people-who-inject-drugs-are-susceptible-to-hepatitis-b-results-from-a-bio-behavioural-study-in-eight-german-cities
#17
J M Haussig, S Nielsen, M Gassowski, V Bremer, U Marcus, B Wenz, N Bannert, C T Bock, R Zimmermann
BACKGROUND: People who inject drugs (PWID) are at high risk of hepatitis B virus (HBV) infection by sharing needles and drug use paraphernalia. In Germany, no routine surveillance of HBV prevalence and vaccination coverage among PWID exists. METHODS: Socio-demographic and behavioural data were collected between 2011 and 2014 through face-to-face interviews during a bio-behavioural survey of PWID recruited in eight German cities. Dried blood spots (DBS) prepared with capillary blood were tested for HBV markers...
October 30, 2017: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/29096030/tacrolimus-a-review-of-laboratory-detection-methods-and-indications-for-use
#18
Derick A Kalt
Tacrolimus (Tac) is an immunosuppressive drug that is used in preventing organ and tissue rejection in patients after transplantation. Tac administration requires frequent and diligent monitoring by physicians to ensure proper dosage and to limit the potential for harmful adverse effects, which can include renal damage, neurotoxicity, and other serious adverse events. Tac is a calcineurin inhibitor, which suppresses the function of T-cells. Its success as an immunosuppressive agent has been well documented in preventing graft-vs-host disease in several types of organ transplants...
November 8, 2017: Laboratory Medicine
https://www.readbyqxmd.com/read/29095812/moonlighting-newborn-screening-markers-the-incidental-discovery-of-a-second-tier-test-for-pompe-disease
#19
Silvia Tortorelli, Jason S Eckerman, Joseph J Orsini, Colleen Stevens, Jeremy Hart, Patricia L Hall, John J Alexander, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Dietrich Matern, Piero Rinaldo
PurposeTo describe a novel biochemical marker in dried blood spots suitable to improve the specificity of newborn screening for Pompe disease.MethodsThe new marker is a ratio calculated between the creatine/creatinine (Cre/Crn) ratio as the numerator and the activity of acid α-glucosidase (GAA) as the denominator. Using Collaborative Laboratory Integrated Reports (CLIR), the new marker was incorporated in a dual scatter plot that can achieve almost complete segregation between Pompe disease and false-positive cases...
November 2, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29090095/case-finding-for-alpha1-antitrypsin-deficiency-in-kazakh-patients-with-copd
#20
Ardak Zhumagaliyeva, Stefania Ottaviani, Timm Greulich, Marina Gorrini, Claus Vogelmeier, Ludmila Karazhanova, Gulmira Nurgazina, Annalisa DeSilvestri, Victor Kotke, Valentina Barzon, Michele Zorzetto, Angelo Corsico, Ilaria Ferrarotti
BACKGROUND: Alpha-1-antitrypsin deficiency (AATD) is an under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD). The aim of this study was to screen for AATD in Kazakh patients with COPD using dried blood spot specimens. METHODS: The alpha1-antitrypsin (AAT) concentration was determined by nephelometry, PCR was used to detect PiS and PiZ alleles; and isoelectric focusing was used to confirm questionable genotype results and detect rare AAT variants...
2017: Multidisciplinary Respiratory Medicine
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