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https://www.readbyqxmd.com/read/28725571/application-of-a-diagnostic-methodology-by-quantification-of-26-0-lysophosphatidylcholine-in-dried-blood-spots-for-japanese-newborn-screening-of-x-linked-adrenoleukodystrophy
#1
Chen Wu, Takeo Iwamoto, Junko Igarashi, Takashi Miyajima, Mohammad Arif Hossain, Hiroko Yanagisawa, Keiko Akiyama, Haruo Shintaku, Yoshikatsu Eto
X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disease that results in the accumulation of very long chain fatty acids (VLCFA) in plasma and all tissues. Recent studies regarding cerebral X-ALD (CALD) treatment emphasize the importance of its early diagnosis. 26:0 lysophosphatidylcholine (LysoPC) is a sensitive biomarker for newborn screening of X-ALD, while its application for Japanese DBS is unclear. Therefore, we evaluated the feasibility of 20:0 LysoPC and 24:0 LysoPC along with 26:0 LysoPC for diagnosing X-ALD in a cohort of newborns (n = 604), healthy adults (n = 50) and patients (n = 4)...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28723748/clinical-characteristics-and-mutation-spectrum-of-gla-in-korean-patients-with-fabry-disease-by-a-nationwide-survey-underdiagnosis-of-late-onset-phenotype
#2
Jin-Ho Choi, Beom Hee Lee, Sun Hee Heo, Gu-Hwan Kim, Yoo-Mi Kim, Dae-Seong Kim, Jung Min Ko, Young Bae Sohn, Yong Hee Hong, Dong-Hwan Lee, Hoon Kook, Han Hyuk Lim, Kyung Hee Kim, Woo-Shik Kim, Geu-Ru Hong, Su-Hyun Kim, Sang Hyun Park, Chan-Duck Kim, So Mi Kim, Jeong-Sook Seo, Han-Wook Yoo
Fabry disease is a rare X-linked lysosomal storage disorder caused by an α-galactosidase A deficiency. The progressive accumulation of globotriaosylceramide (GL-3) results in life-threatening complications, including renal, cardiac, and cerebrovascular diseases. This study investigated the phenotypic and molecular spectra of GLA mutations in Korean patients with Fabry disease using a nationwide survey.This study included 94 patients from 46 independent pedigrees: 38 adult males, 46 symptomatic females, and 10 pediatric males...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28720162/maternal-pregnancy-c-reactive-protein-predicts-offspring-birth-size-and-body-composition-in-metropolitan-cebu-philippines
#3
C W Kuzawa, R L Fried, J B Borja, T W McDade
The gestational milieu is an important influence on fetal development and long-term disease risk. Here we assess relationships between maternal pregnancy inflammation, indicated by C-reactive protein (CRP), and offspring anthropometric outcomes measured soon after birth. Data come from female participants (n=327, age 24.4-30.2 years) in a longitudinal study located in Metropolitan Cebu, Philippines. Between 2009 and 2014, pregnancy interviews (n=429) were conducted during which questionnaire and anthropometric data were obtained along with dried blood spot cards for CRP measurement...
July 19, 2017: Journal of Developmental Origins of Health and Disease
https://www.readbyqxmd.com/read/28715465/multiplexing-detection-of-igg-against-plasmodium-falciparum-pregnancy-specific-antigens
#4
Ana Maria Fonseca, Llorenç Quinto, Alfons Jiménez, Raquel González, Azucena Bardají, Sonia Maculuve, Carlota Dobaño, Maria Rupérez, Anifa Vala, John J Aponte, Esperanza Sevene, Eusebio Macete, Clara Menéndez, Alfredo Mayor
BACKGROUND: Pregnant women exposed to Plasmodium falciparum generate antibodies against VAR2CSA, the parasite protein that mediates adhesion of infected erythrocytes to the placenta. There is a need of high-throughput tools to determine the fine specificity of these antibodies that can be used to identify immune correlates of protection and exposure. Here we aimed at developing a multiplex-immunoassay to detect antibodies against VAR2CSA antigens. METHODS AND FINDINGS: We constructed two multiplex-bead arrays, one composed of 3 VAR2CSA recombinant-domains (DBL3X, DBL5Ɛ and DBL6Ɛ) and another composed of 46 new peptides covering VAR2CSA conserved and semi-conserved regions...
2017: PloS One
https://www.readbyqxmd.com/read/28715460/early-infant-diagnosis-of-hiv-1-infection-in-luanda-angola-using-a-new-dna-pcr-assay-and-dried-blood-spots
#5
Francisco Martin, Claudia Palladino, Rita Mateus, Anna Bolzan, Perpétua Gomes, José Brito, Ana Patrícia Carvalho, Yolanda Cardoso, Cristovão Domingos, Vanda Sofia Lôa Clemente, Nuno Taveira
BACKGROUND: Early diagnosis and treatment reduces HIV-1-related mortality, morbidity and size of viral reservoirs in infants infected perinatally. Commercial molecular tests enable the early diagnosis of infection in infants but the high cost and low sensitivity with dried blood spots (DBS) limit their use in sub-Saharan Africa. OBJECTIVES: To develop and validate a sensitive and cheap qualitative proviral DNA PCR-based assay for early infant diagnosis (EID) in HIV-1-exposed infants using DBS samples...
2017: PloS One
https://www.readbyqxmd.com/read/28714878/integrated-metabolomics-assessment-of-human-dried-blood-spots-and-urine-strips
#6
Jeremy Drolet, Vladimir Tolstikov, Brian A Williams, Bennett P Greenwood, Collin Hill, Vivek K Vishnudas, Rangaprasad Sarangarajan, Niven R Narain, Michael A Kiebish
(1) Background: Interest in the application of metabolomics toward clinical diagnostics development and population health monitoring has grown significantly in recent years. In spite of several advances in analytical and computational tools, obtaining a sufficient number of samples from patients remains an obstacle. The dried blood spot (DBS) and dried urine strip (DUS) methodologies are a minimally invasive sample collection method allowing for the relative simplicity of sample collection and minimal cost...
July 15, 2017: Metabolites
https://www.readbyqxmd.com/read/28712959/associations-between-long-term-exposure-to-air-pollution-glycosylated-hemoglobin-and-diabetes
#7
Trenton Honda, Vivian C Pun, Justin Manjourides, Helen Suh
BACKGROUND: Air pollution exposures have been shown to adversely impact health through a number of biological pathways associated with glucose metabolism. However, few studies have evaluated the associations between air pollution and glycosylated hemoglobin (HbA1c) levels. Further, no studies have evaluated these associations in US populations or investigated whether associations differ in diabetic as compared to non-diabetic populations. To address this knowledge gap, we investigated the associations between airborne fine particulate matter (PM2...
June 26, 2017: International Journal of Hygiene and Environmental Health
https://www.readbyqxmd.com/read/28711408/biochemical-characteristics-of-newborns-with-carnitine-transporter-defect-identified-by-newborn-screening-in-california
#8
N M Gallant, K Leydiker, Y Wilnai, C Lee, F Lorey, L Feuchtbaum, H Tang, J Carter, G M Enns, S Packman, H J Lin, W R Wilcox, S D Cederbaum, J E Abdenur
Carnitine transporter defect (CTD; also known as systemic primary carnitine deficiency; MIM 212140) is due to mutations in the SLC22A5 gene and leads to extremely low carnitine levels in blood and tissues. Affected individuals may develop early onset cardiomyopathy, weakness, or encephalopathy, which may be serious or even fatal. The disorder can be suggested by newborn screening. However, markedly low newborn carnitine levels can also be caused by conditions unrelated to CTD, such as the low carnitine levels often associated with normal pregnancies and some metabolic disorders occurring in the mother...
July 8, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28711173/presymptomatic-diagnosis-of-spinal-muscular-atrophy-through-newborn-screening
#9
Yin-Hsiu Chien, Shu-Chuan Chiang, Wen-Chin Weng, Ni-Chung Lee, Ching-Jie Lin, Wu-Shiun Hsieh, Wang-Tso Lee, Yuh-Jyh Jong, Tsang-Ming Ko, Wuh-Liang Hwu
OBJECTIVE: To demonstrate the feasibility of presymptomatic diagnosis of spinal muscular atrophy (SMA) through newborn screening (NBS). STUDY DESIGN: We performed a screening trial to assess all newborns who underwent routine newborn metabolic screening at the National Taiwan University Hospital newborn screening center between November 2014 and September 2016. A real-time polymerase chain reaction (RT-PCR) genotyping assay for the SMN1/SMN2 intron 7 c.888+100A/G polymorphism was performed to detect homozygous SMN1 deletion using dried blood spot (DBS) samples...
July 12, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28710204/bio-plex-immunoassay-measuring-the-quantity-of-lysosomal-n-acetylgalactosamine-6-sulfatase-protein-in-dried-blood-spots-for-the-screening-of-mucopolysaccharidosis-iva-in-newborn-a-pilot-study
#10
Chih-Kuang Chuang, Hsiang-Yu Lin, Tuan-Jen Wang, Sung-Fa Huang, Shuan-Pei Lin
OBJECTIVE: Mucopolysaccharidosis (MPS) IVA (Morquio syndrome A) is an autosomal-recessive lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS) resulting in excessive lysosomal storage of keratan sulfate. Treatments for MPS IVA have recently become available with optimal outcomes associated with early diagnosis and treatment which can be achieved by newborn screening. DESIGN: Newborn screening programme for MPS IVA pilot study...
July 13, 2017: BMJ Open
https://www.readbyqxmd.com/read/28704560/performance-characteristics-of-finger-stick-dried-blood-spots-dbs-on-the-determination-of-human-immunodeficiency-virus-hiv-treatment-failure-in-a-pediatric-population-in-mozambique
#11
Joy Chang, Amina de Sousa, Jennifer Sabatier, Mariamo Assane, Guoqing Zhang, Dulce Bila, Paula Vaz, Charity Alfredo, Loide Cossa, Nilesh Bhatt, Emilia H Koumans, Chunfu Yang, Emilia Rivadeneira, Ilesh Jani, James C Houston
Quantitative plasma viral load (VL) at 1000 copies /mL was recommended as the threshold to confirm antiretroviral therapy (ART) failure by the World Health Organization (WHO). Because of ongoing challenges of using plasma for VL testing in resource-limited settings (RLS), especially for children, this study collected 717 DBS and paired plasma samples from children receiving ART ≥1 year in Mozambique and compared the performance of DBS using Abbott's VL test with a paired plasma sample using Roche's VL test...
2017: PloS One
https://www.readbyqxmd.com/read/28700523/dried-blood-spots-combined-with-ultra-high-performance-liquid-chromatography-mass-spectrometry-for-the-quantification-of-the-antipsychotics-risperidone-aripiprazole-pipamperone-and-their-major-metabolites
#12
Camille Tron, Sanne M Kloosterboer, Bart C H van der Nagel, Rixt A Wijma, Bram Dierckx, Gwen C Dieleman, Teun van Gelder, Birgit C P Koch
BACKGROUND: Risperidone, aripiprazole, and pipamperone are antipsychotic drugs frequently prescribed for the treatment of comorbid behavioral problems in children with autism spectrum disorders. Therapeutic drug monitoring (TDM) could be useful to decrease side effects and to improve patient outcome. Dried blood spot (DBS) sample collection seems to be an attractive technique to develop TDM of these drugs in a pediatric population. The aim of this work was to develop and validate a DBS assay suitable for TDM and home sampling...
August 2017: Therapeutic Drug Monitoring
https://www.readbyqxmd.com/read/28700522/dried-blood-spot-sampling-for-tacrolimus-and-mycophenolic-acid-in-children-analytical-and-clinical-validation
#13
Lisa C Martial, Karin E J Hoogtanders, Michiel F Schreuder, Elisabeth A Cornelissen, Jac van der Heijden, Manuela A Joore, Erik M Van Maarseveen, David M Burger, Sander Croes, Roger J M Brüggemann, Rob E Aarnoutse
BACKGROUND: Tacrolimus and mycophenolic acid (MPA) are the backbone of immunosuppressive therapy after pediatric kidney transplantation. Dosing of these drugs is individualized by therapeutic drug monitoring. Dried blood spot (DBS) sampling may prove beneficial over conventional venous sampling. We aimed to develop and clinically validate a DBS method for tacrolimus and MPA in children. METHODS: A joint DBS liquid chromatography-mass spectrometry assay for tacrolimus and MPA was developed...
August 2017: Therapeutic Drug Monitoring
https://www.readbyqxmd.com/read/28700474/the-accuracy-of-hiv-rapid-testing-in-integrated-bio-behavioral-surveys-of-men-who-have-sex-with-men-across-5-provinces-in-south-africa
#14
Tendesayi Kufa, Tim Lane, Albert Manyuchi, Beverley Singh, Zachary Isdahl, Thomas Osmand, Mike Grasso, Helen Struthers, James McIntyre, Zawadi Chipeta, Adrian Puren
We describe the accuracy of serial rapid HIV testing among men who have sex with men (MSM) in South Africa and discuss the implications for HIV testing and prevention.This was a cross-sectional survey conducted at five stand-alone facilities from five provinces.Demographic, behavioral, and clinical data were collected. Dried blood spots were obtained for HIV-related testing. Participants were offered rapid HIV testing using 2 rapid diagnostic tests (RDTs) in series. In the laboratory, reference HIV testing was conducted using a third-generation enzyme immunoassay (EIA) and a fourth-generation EIA as confirmatory...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28700394/medication-adherence-condom-use-and-sexually-transmitted-infections-in-australian-preexposure-prophylaxis-users
#15
Luxi Lal, Jennifer Audsley, Dean A Murphy, Christopher K Fairley, Mark Stoove, Norm Roth, Richard Moore, Ban K Tee, Nalagafiar Puratmaja, Peter L Anderson, David Leslie, Robert M Grant, John De Wit, Edwina Wright
OBJECTIVE: HIV preexposure prophylaxis (PrEP) decreases risk of HIV acquisition; however, its efficacy is closely dependent on adherence. There is also concern that the preventive effect of PrEP may be offset by risk compensation, notably an increase in condomless anal sex. DESIGN: Multisite, open-label demonstration study that recruited people at current or recent risk of HIV infection in Melbourne, Australia. METHODS: Participants were recruited from three general practice clinics and one sexual health clinic in Melbourne and consented to take daily tenofovir/emtricitabine (TFV/FTC) for 30 months...
July 31, 2017: AIDS
https://www.readbyqxmd.com/read/28693564/surveillance-of-recent-hiv-infections-among-newly-diagnosed-hiv-cases-in-germany-between-2008-and-2014
#16
Alexandra Hofmann, Andrea Hauser, Ruth Zimmermann, Claudia Santos-Hövener, Jörg Bätzing-Feigenbaum, Stephan Wildner, Claudia Kücherer, Norbert Bannert, Osamah Hamouda, Viviane Bremer, Barbara Bartmeyer
BACKGROUND: The HIV surveillance system in Germany is based on mandatory, anonymous notification of newly diagnosed HIV cases by laboratories. Because the time between HIV infection and the diagnosis of HIV varies widely between persons, it is difficult to determine the number of cases of recent HIV infection among newly diagnosed cases of HIV. In Germany, the BED-capture-enzyme immunoassay (BED-CEIA) has been used to distinguish between recent and long-standing HIV infection. The aim of this analysis is to report the proportion of cases of recent HIV infection among newly diagnosed cases in Germany between 2008 and 2014 and to identify factors associated with recent infections...
July 11, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28693362/veterinary-utility-of-dried-blood-spots-for-analysis-of-toxic-chlorinated-hydrocarbons
#17
Andreas F Lehner, Margaret Johnson, John Buchweitz
Dried blood spots (DBS) on filter paper provide a simple and convenient means of collecting, storing and shipping samples for veterinary diagnostics related to toxin exposures. This paper presents validation data on analysis of DBS for chlorinated persistent organic pollutants, specifically 4,4'-DDT and its breakdown product 4,4'-DDE, lindane and a representative polychlorinated biphenyl (PCB) congener PCB-153. Analysis was by gas chromatography with electron capture detection (GC-ECD). The method required one 12...
July 11, 2017: Toxicology Mechanisms and Methods
https://www.readbyqxmd.com/read/28692308/lc-ms-determination-of-triazolam-and-its-hydroxy-metabolites-in-mouse-dried-blood-spots-application-to-transgenic-mouse-pharmacokinetic-studies
#18
Prashant Kole, Abhijith Rao, Vishwanath Kurawattimath, Sandhya Mandlekar
AIM: The objective of this study was to develop a LC-MS/MS method for the simultaneous determination of triazolam (TRZ) and its two hydroxy metabolites in transgenic mouse dried blood spots (DBS) using BALB/c mouse blood as a surrogate biomatrix. METHODOLOGY/RESULTS: The DBS method involved spotting volume of 10 μl using Ahlstrom 226 sample collection cards. A 'whole spot' analysis (6-mm punch) involved extraction of analytes using water and acetonitrile containing an internal standard...
July 10, 2017: Bioanalysis
https://www.readbyqxmd.com/read/28692002/impact-of-work-task-related-acute-occupational-smoke-exposures-on-select-proinflammatory-immune-parameters-in-wildland-firefighters
#19
Anna M Adetona, Olorunfemi Adetona, Robert M Gogal, David Diaz-Sanchez, Stephen L Rathbun, Luke P Naeher
OBJECTIVE: A repeated measures study was used to assess the effect of work tasks on select proinflammatory biomarkers in firefighters working at prescribed burns. METHODS: Ten firefighters and two volunteers were monitored for particulate matter and carbon monoxide on workdays, January to July 2015. Before and after workshift dried blood spots were analyzed for inflammatory mediators using the Meso Scale Discovery assay, while blood smears were used to assess leukocyte parameters...
July 2017: Journal of Occupational and Environmental Medicine
https://www.readbyqxmd.com/read/28690281/women-with-subclinical-hypothyroidism-are-at-low-risk-of-poor-pregnancy-outcome-in-japan
#20
Seishi Furukawa, Kazuko Miyakawa, Joichi Shibata, Mitsutoshi Iwashita
Maternal subclinical hypothyroidism may be associated with adverse pregnancy outcomes, although not consistently across regions. Here, we sought to determine the effect of elevated thyroid-stimulating hormone (TSH) on pregnancy outcomes in Japanese women without known medical complications. TSH was determined by dried blood spots at 8-20 weeks of gestation, and 3.0-10.0 μU/mL of TSH was considered as elevated TSH (eTSH). A retrospective study involving 167 cases of eTSH was conducted. Five hundred and seventy eight of controls with normal TSH and without thyroid antibodies were selected...
2017: Tohoku Journal of Experimental Medicine
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