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Dried blood spots

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https://www.readbyqxmd.com/read/28088454/alpha-l-iduronidase-and-arylsulfatase-b-in-dried-blood-spots-on-filter-paper-biochemical-parameters-and-time-stability
#1
Ana Carolina Breier, Jaqueline Cé, Jamila Mezzalira, Vanessa V Daitx, Vitoria C Moraes, Mariana P S Goldim, Janice C Coelho
BACKGROUND: The goal of this study was to assess the biochemical parameters of the enzymes α-l-iduronidase (IDUA) and arylsulfatase B (ASB), which are deficient in mucopolysaccharidosis (MPS) I and VI, respectively, in dried blood spot (DBS) samples impregnated on filter paper. METHODS AND RESULTS: The optimal pH, Km, and Vmax of IDUA and ASB in DBS are hereby presented. After these analyses, the reference values for the activities of these enzymes in DBS with cutoff of 3...
January 11, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28088044/dried-haematic-microsamples-and-lc-ms-ms-for-the-analysis-of-natural-and-synthetic-cannabinoids
#2
Michele Protti, James Rudge, Angelo Eliseo Sberna, Gilberto Gerra, Laura Mercolini
Synthetic cannabinoids are new psychoactive substances (NPS) with similar effects when compared to natural ones found in Cannabis derivatives. They have rapidly integrated into the illicit market, often sold as alternatives under international control. The need to identify and quantify an unprecedented and growing number of new compounds represents a unique challenge for toxicological, forensic and anti-doping analysis. Dried blood spots have been used within the bioanalytical framework in place of plasma or serum, in order to reduce invasiveness, lower sample size, simplify handling, storage and shipping of samples and to facilitate home-based and on-field applications...
December 30, 2016: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/28087245/the-severe-clinical-phenotype-for-a-heterozygous-fabry-female-patient-correlates-to-the-methylation-of-non-mutated-allele-associated-with-chromosome-10q26-deletion-syndrome
#3
Mohammad Arif Hossain, Hiroko Yanagisawa, Takashi Miyajima, Chen Wu, Ayumi Takamura, Keiko Akiyama, Rina Itagaki, Kaoru Eto, Takeo Iwamoto, Takayuki Yokoi, Kenji Kurosawa, Hironao Numabe, Yoshikatsu Eto
Heterozygous Fabry females usually have an attenuated form of Fabry disease, causing them to be symptomatic; however, in rare cases, they can present with a severe phenotype. In this study, we report on a 37-year-old woman with acroparesthesia, a dysmorphic face, left ventricular hypertrophy, and intellectual disability. Her father had Fabry disease and died due to chronic renal and congestive cardiac failure. Her paternal uncle had chronic renal failure and intellectual disability, and her paternal aunt was affected with congestive cardiac failure...
January 7, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28081297/first-trimester-noninvasive-fetal-rhd-genotyping-using-maternal-dried-blood-spots
#4
Yali Xiong, Stacey Jeronis, Barbara Hoffman, Dan A Liebermann, Ossie Geifman-Holtzman
OBJECTIVE: This study was aimed to evaluate whether maternal dried blood spots (DBS) could be a potential source for the non-invasive fetal RHD genotyping, serving as a combined one-step test for both the First Trimester Screen and the fetal RHD genotyping. METHOD: Both the DBS and the peripheral blood samples from nineteen RhD-negative pregnant women were obtained during the First Trimester Screen. DNA was extracted and Sequential Real-time PCRs were performed to determine the fetal RHD genotypes...
January 12, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28081046/evaluation-of-herpes-simplex-virus-type-2-serological-tests-for-use-with-dried-blood-spots-in-kenya
#5
Marcia M Hobbs, Sophie W Mwanyumba, Winnie K Luseno, Shane Hartman, Carolyn T Halpern, Denise D Hallfors, Hyunsan Cho
We evaluated 2 assays to detect antibodies to herpes simplex virus type 2 in dried blood spots prepared from blood specimens submitted to a reference laboratory in Kenya. Dried blood spots did not perform well with the Kalon herpes simplex virus type 2 assay. Focus HerpeSelect 2 was 98.8% sensitive and 98.9% specific with dried blood spots.
February 2017: Sexually Transmitted Diseases
https://www.readbyqxmd.com/read/28068914/mumps-transmission-in-social-networks-a-cohort-study
#6
Susan Hahné, Tessa Schurink, Jacco Wallinga, Jeroen Kerkhof, Marianne van der Sande, Rob van Binnendijk, Hester de Melker
BACKGROUND: Mumps emerged among highly vaccinated populations in the Netherlands. This offered a unique opportunity to study mumps virus transmission. In particular the extent to which asymptomatic infections in vaccinated people contribute to ongoing mumps virus transmission is uncertain. Insight into this could help project the future burden of mumps in vaccinated populations. We therefore studied the relative infectiousness of symptomatic and asymptomatic cases. METHODS: In a cohort study we followed contacts of notified mumps cases (ring 1) and contacts' contacts (ring 2) for 40 days to ascertain symptoms of mumps and social contacts by weekly diaries and questionnaires, and mumps virus infections by taking finger stick dried blood spot specimens (DBS) that were tested for mumps-specific IgG antibodies...
January 10, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28065440/glycosaminoglycan-levels-in-dried-blood-spots-of-patients-with-mucopolysaccharidoses-and-mucolipidoses
#7
Francyne Kubaski, Yasuyuki Suzuki, Kenji Orii, Roberto Giugliani, Heather J Church, Robert W Mason, Vũ Chí Dũng, Can Thi Bich Ngoc, Seiji Yamaguchi, Hironori Kobayashi, Katta M Girisha, Toshiyuki Fukao, Tadao Orii, Shunji Tomatsu
: Mucopolysaccharidoses (MPSs) and mucolipidoses (ML) are groups of lysosomal storage disorders in which lysosomal hydrolases are deficient leading to accumulation of undegraded glycosaminoglycans (GAGs), throughout the body, subsequently resulting in progressive damage to multiple tissues and organs. Assays using tandem mass spectrometry (MS/MS) have been established to measure GAGs in serum or plasma from MPS and ML patients, but few studies were performed to determine whether these assays are sufficiently robust to measure GAG levels in dried blood spots (DBS) of patients with MPS and ML...
December 22, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28065439/nine-years-of-newborn-screening-for-classical-galactosemia-in-the-netherlands-effectiveness-of-screening-methods-and-identification-of-patients-with-previously-unreported-phenotypes
#8
Lindsey Welling, Anita Boelen, Terry G J Derks, Peter C J I Schielen, Maaike de Vries, Monique Williams, Frits A Wijburg, Annet M Bosch
INTRODUCTION: Newborn screening (NBS) for classical galactosemia (CG) was introduced in the Netherlands in 2007. Multiple screening methods have been used since, and currently a two-tier system is used, with residual enzyme activity of galactose-1-phosphate-uridyltransferase (GALT) and total galactose concentration in dried blood spots as the primary and secondary markers. As it is essential to monitor effectiveness of NBS programs, we assessed the effectiveness of different screening methods used over time (primary aim), and aimed to identify and investigate patients identified through NBS with previously unreported clinical and biochemical phenotypes (secondary aim)...
December 29, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28060886/point-of-care-p24-infant-testing-for-hiv-may-increase-patient-identification-despite-low-sensitivity
#9
Bindiya Meggi, Timothy Bollinger, Nédio Mabunda, Adolfo Vubil, Ocean Tobaiwa, Jorge I Quevedo, Osvaldo Loquiha, Lara Vojnov, Trevor F Peter, Ilesh V Jani
The long delay in returning test results during early infant diagnosis of HIV (EID) often causes loss-to-follow-up prior to antiretroviral treatment (ART) initiation in resource-limited settings. A point-of-care (POC) test may help overcome these challenges. We evaluated the performance of the LYNX p24 Antigen POC test in Mozambique. 879 HIV-exposed infants under 18 months of age were enrolled consecutively at three primary healthcare clinics (PHC). Lancet heel-drawn blood was tested on-site by nurses using a prototype POC test for HIV Gag p24 antigen detection...
2017: PloS One
https://www.readbyqxmd.com/read/28059958/future-technologies-for-monitoring-hiv-drug-resistance-and-cure
#10
Urvi M Parikh, Kevin McCormick, Gert van Zyl, John W Mellors
PURPOSE OF REVIEW: Sensitive, scalable and affordable assays are critically needed for monitoring the success of interventions for preventing, treating and attempting to cure HIV infection. This review evaluates current and emerging technologies that are applicable for both surveillance of HIV drug resistance (HIVDR) and characterization of HIV reservoirs that persist despite antiretroviral therapy and are obstacles to curing HIV infection. RECENT FINDINGS: Next-generation sequencing (NGS) has the potential to be adapted into high-throughput, cost-efficient approaches for HIVDR surveillance and monitoring during continued scale-up of antiretroviral therapy and rollout of preexposure prophylaxis...
January 5, 2017: Current Opinion in HIV and AIDS
https://www.readbyqxmd.com/read/28057168/evaluation-and-optimization-of-blood-micro-sampling-methods-serial-sampling-in-a-cross-over-design-from-an-individual-mouse
#11
Nita J Patel, Enaksha Wickremsinhe, Yu-Hua Hui, Alexandar Barr, Nicholas Masterson, Kenneth Ruterbories, Jennifer Weller, Jennifer Hanes, Tom Kern, Everett Perkins
PURPOSE: Current practices applied to mouse pharmacokinetic (PK) studies often use large numbers of animals with sporadic or composite sampling that inadequately describe PK profiles.  The purpose of this work was to evaluate and optimize blood microsampling techniques coupled with dried blood spot (DBS) and LC-MS/MS analysis to generate reliable PK data in mice.  In addition, the feasibility of cross-over designs was assessed and recommendations are presented. METHODS: The work describes a comprehensive evaluation of five blood microsampling techniques (tail clip, tail vein with needle hub, submandibular, retro-orbital, and saphenous bleeding) in CD-1 mice...
October 2016: Journal of Pharmacy & Pharmaceutical Sciences: a Publication of the Canadian Society for Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28057123/-ptps-gene-analysis-and-prenatal-diagnosis-in-patients-with-6-pyruvoyl-tetra-hydropterin-synthase-deficiency
#12
N Liu, D H Zhao, X L Li, L X Cui, Q H Wu, M Jiang, X D Kong
Objective: To analyze the variations of PTPS gene in patients with suspected 6-pyruvoyl-tetra hydropterin synthase deficiency (PTPSD) and to make prenatal diagnosis in high-risk families. Methods: Chemiluminescence was used for phenylalanine detection in blood or dried blood spots.Patients with phenylalanine concentration over 120 μmol/L were detected by urine pterin analysis, and the activity of dihydropteridine reductase (DHPR) was detected. tetrahydrobiopterin loading tests were performed in suspected patients with abnormal urinary pterin profiles...
December 25, 2016: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/28056979/malaria-epidemiology-in-central-myanmar-identification-of-a-multi-species-asymptomatic-reservoir-of-infection
#13
Isaac Ghinai, Jackie Cook, Teddy Tun Win Hla, Hein Myat Thu Htet, Tom Hall, Inke Nd Lubis, Rosanna Ghinai, Therese Hesketh, Ye Naung, Mya Mya Lwin, Tint Swe Latt, David L Heymann, Colin J Sutherland, Chris Drakeley, Nigel Field
BACKGROUND: The spread of artemisinin-resistant Plasmodium falciparum is a global health concern. Myanmar stands at the frontier of artemisinin-resistant P. falciparum. Myanmar also has the highest reported malaria burden in Southeast Asia; it is integral in the World Health Organization's plan to eliminate malaria in Southeast Asia, yet few epidemiological data exist for the general population in Myanmar. METHODS: This cross-sectional, probability household survey was conducted in Phyu township, Bago Region (central Myanmar), during the wet season of 2013...
January 5, 2017: Malaria Journal
https://www.readbyqxmd.com/read/28056555/a-prospective-clinical-trial-to-compare-the-performance-of-dried-blood-spots-prenatal-screening-for-down-s-syndrome-with-conventional-non-invasive-testing-technology
#14
Huiying Hu, Yulin Jiang, Minghui Zhang, Shanying Liu, Na Hao, Jing Zhou, Juntao Liu, Xiaojin Zhang, Liangkun Ma
To evaluate, side by side, the efficiency of dried blood spots (DBSs) against serum screening for Down's syndrome, and then, to construct a two-tier strategy by topping up the fetal cell-free DNA (cfDNA) secondary screening over the high-risk women marked by the primary blood testing to build a practical screening tactic to identify fetal Down's syndrome. One thousand eight hundred and thirty-seven low-risk Chinese women, with singleton pregnancy, were enrolled for the study. Alpha-fetoprotein and free beta human chorionic gonadotropin were measured for the serum as well as for the parallel DBS samples...
January 1, 2017: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28053876/rna-sequencing-of-archived-neonatal-dried-blood-spots
#15
Jonas Bybjerg-Grauholm, Christian Munch Hagen, Sok Kean Khoo, Maria Louise Johannesen, Christine Søholm Hansen, Marie Bækvad-Hansen, Michael Christiansen, David Michael Hougaard, Mads V Hollegaard
Neonatal dried blood spots (DBS) are routinely collected on standard Guthrie cards for all-comprising national newborn screening programs for inborn errors of metabolism, hypothyroidism and other diseases. In Denmark, the Guthrie cards are stored at - 20 °C in the Danish Neonatal Screening Biobank and each sample is linked to elaborate social and medical registries. This provides a unique biospecimen repository to enable large population research at a perinatal level. Here, we demonstrate the feasibility to obtain gene expression data from DBS using next-generation RNA sequencing (RNA-seq)...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28050688/high-prevalences-and-a-wide-genetic-diversity-of-simian-retroviruses-in-non-human-primate-bushmeat-in-rural-areas-of-the-democratic-republic-of-congo
#16
Ahuka-Mundeke Steve, Ayouba Ahidjo, Mbala-Kingebeni Placide, Foncelle Caroline, Mubonga Mukulumanya, Ndimbo-Kumugo Simon-Pierre, Lunguya-Metila Octavie, Mbenzo-Abokome Valentin, Muyembe-Tamfum Jean-Jacques, Delaporte Eric, Peeters Martine
Like the majority of emerging infectious diseases, HIV and HTLV are of zoonotic origin. Here we assess the risk of cross-species transmissions of their simian counterparts, SIV and STLV, from non-human primates (NHP) to humans in the Democratic Republic of Congo (DRC). A total of 331 samples, derived from NHP bushmeat, were collected as dried blood spots (DBS, n = 283) or as tissue samples (n = 36) at remote forest sites mainly in northern and eastern DRC. SIV antibody prevalences in DBS were estimated with a novel high throughput immunoassay with antigens representing the actual known diversity of HIV/SIV lineages...
January 3, 2017: EcoHealth
https://www.readbyqxmd.com/read/28049500/metabolic-progression-to-clinical-phenotype-in-classic-fabry-disease
#17
Marco Spada, David Kasper, Veronica Pagliardini, Elisa Biamino, Silvana Giachero, Francesco Porta
BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder due to α-galactosidase A (α-Gal A) deficiency. Clinical onset of Fabry disease is preceded by significant storage of globotriaosylceramide (Gb3) and related glycosphingolipids, but the extent of the metabolic progression before symptoms is unknown. Using a newly recognized effector and marker of Fabry disease, globotriaosylsphingosine (LysoGb3), we aimed to provide a metabolic picture of classic Fabry disease from the neonatal period to childhood...
January 3, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28043603/individualized-treatment-of-multidrug-resistant-tuberculosis-using-therapeutic-drug-monitoring
#18
Mathieu S Bolhuis, Onno W Akkerman, Marieke G G Sturkenboom, Wiel C M de Lange, Tjip S van der Werf, Jan-Willem C Alffenaar
OBJECTIVE/BACKGROUND: Globally, approximately 50% of patients with multidrug-resistant tuberculosis (MDR-TB) experience treatment failure. MDR-TB treatment is hindered by adverse events, toxicity of the second-line anti-TB drugs, logistics and costs, especially in low-income countries, and problems with medication adherence. Pharmacokinetic variability is also attributed as one of the reasons contributing to treatment failure. In our reference Tuberculosis Center Beatrixoord (University Medical Center Groningen, Groningen, The Netherlands), we strive to individualize treatment of all MDR-TB patients based on drug-susceptibility testing using minimal inhibitory concentrations and pharmacokinetic parameters...
December 2016: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/28033553/volumetric-absorptive-microsampling-vams-as-an-alternative-to-conventional-dried-blood-spots-in-the-quantification-of-miltefosine-in-dried-blood-samples
#19
A E Kip, K C Kiers, H Rosing, J H M Schellens, J H Beijnen, T P C Dorlo
Miltefosine is an oral agent against the neglected tropical disease leishmaniasis, which is mostly endemic in resource-poor areas. Dried blood spot (DBS) sampling is an attractive alternative to plasma sampling for pharmacokinetic studies in these remote areas, but introduces additional variability in analyte quantification due to possible blood spot inhomogeneity and variability in blood spot volume and haematocrit values. Volumetric absorptive microsampling (VAMS) potentially overcomes a few of these issues as the VAMS device absorbs a fixed volume that is processed as a whole...
December 9, 2016: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28027888/comparison-between-dried-blood-spot-and-plasma-sampling-for-therapeutic-drug-monitoring-of-antiepileptic-drugs-in-children-with-epilepsy-a-step-towards-home-sampling
#20
Camilla Linder, Katarina Wide, Malin Walander, Olof Beck, Lars L Gustafsson, Anton Pohanka
OBJECTIVES: To investigate if dried blood spots could be used for therapeutic drug monitoring of the antiepileptic drugs, carbamazepine, lamotrigine and valproic acid in children with epilepsy. METHODS: Fingerprick blood samples from 46 children at a neuropediatric outpatient clinic was collected on filterpaper at the same time as capillary plasma sampling. A validated dried blood spot liquid chromatography tandem mass spectrometry method for carbamazepine, lamotrigine and valproic acid was compared with the routine plasma laboratory methods...
December 24, 2016: Clinical Biochemistry
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