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Dried blood spots

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https://www.readbyqxmd.com/read/29778277/interpretation-of-acid-%C3%AE-glucosidase-activity-in-creatine-kinase-elevation-a-case-of-becker-muscular-dystrophy
#1
Yoshiki Oitani, Akihiko Ishiyama, Motomichi Kosuga, Kentaro Iwasawa, Ayako Ogata, Fumiko Tanaka, Eri Takeshita, Yuko Shimizu-Motohashi, Hirofumi Komaki, Ichizo Nishino, Torayuki Okuyama, Masayuki Sasaki
BACKGROUND: Diagnosis of Pompe disease is sometimes challenging because it exhibits clinical similarities to muscular dystrophy. CASE: We describe a case of Becker muscular dystrophy (BMD) with a remarkable reduction in activity of the acid α-glucosidase (GAA) enzyme, caused by a combination of pathogenic mutation and polymorphism variants resulting in pseudodeficiency in GAA. The three-year-old boy demonstrated asymptomatic creatine kinase elevation. Neither exon deletion nor duplication was detected on multiplex ligation-dependent probe amplification (MLPA) of DMD...
May 16, 2018: Brain & Development
https://www.readbyqxmd.com/read/29778029/late-onset-childhood-neuronal-ceroid-lipofuscinosis-early-clinical-and-electroencephalographic-markers
#2
Lucas Beltrán, Gabriela Reyes Valenzuela, Mariana Loos, Rodrigo Vargas, Rafael Lizama, Pablo Spinsanti, Roberto Caraballo
PURPOSE: The objective of the study was to describe the initial clinical and electroencephalographic findings in children with late-infantile neuronal ceroid lipofuscinosis (LINCL). METHOD: The clinical charts of 35 patients seen between 1990 and 2016 were reviewed. The patients were divided into two groups: Group 1 (G1) consisting of 12 patients with NCL type 2 (CLN2) disease confirmed by enzymatic activity in dried blood spots on filter paper and/or genetic studies, and Group 2 (G2) consisting of 23 patients with a diagnosis of LINCL based on pathology studies by muscle biopsy...
May 15, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29775811/determination-of-docetaxel-in-dried-blood-spots-by-lc-ms-ms-method-development-validation-and-clinical-application
#3
S Raymundo, V V Muller, N B Andriguetti, M Tegner, A C Artmann, H M Kluck, M A Franzoi, R M M Vilela, G Schwartsmann, R Linden, M V Antunes
In this study, a LC-MS/MS method for the measurement of docetaxel in Dried Blood Spots (DBS) samples was developed and validated. Docetaxel was extracted from 8 mm DBS punch with a mixture of methanol and acetonitrile (9:1, v/v). The chromatographic separation occurred in an Acquity® C18 column (150 × 2.1 mm, 1.7 μm) eluted with a mixture of water and acetonitrile plus 0.1% formic acid (45:55, v/v). Total analytical run time was 7 min. The method was linear from 50 to 3000 ng ml-1 . Precision assays showed CV% < 9...
May 15, 2018: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/29773783/cholesteryl-ester-storage-disease-fatal-outcome-without-causal-therapy-in-a-female-patient-with-the-preventable-sequelae-of-progressive-liver-disease-after-many-years-of-mild-symptoms
#4
Ali Canbay, Meike N Müller, Stathis Philippou, Guido Gerken, Andreas Tromm
BACKGROUND Cholesteryl ester storage disease (CESD), also known as lysosomal acid lipase deficiency (LAL-D), is a rare autosomal-recessive inheritable lysosomal storage disease. Since 2015, a causal treatment with sebelipase alfa, which replaces the missing LAL enzyme, has been approved. We report a fatal course of LAL-D in a female patient. CASE REPORT In 1979, CESD was first diagnosed in a 13-year-old female with marked hepatomegaly. At that time, no specific treatment for CESD was available and the spontaneous course of the disease had to be awaited...
May 18, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29764569/-combined-effect-of-gestational-age-and-birth-weight-on-metabolites-related-to-inherited-metabolic-diseases-in-neonates
#5
Fang Yi, Ling Wang, Mei Wang, Xue-Lian Yuan, Hua-Jing Wan, Jia-Yuan Li
OBJECTIVE: To study the combined effect of gestational age and birth weight on metabolites related to inherited metabolic diseases (IMD). METHODS: A total of 3 381 samples ruled out of IMD by follow-up were randomly selected from 38 931 newborns who participated in the neonatal IMD screening during 2014-2016. The 3 381 neonates were categorized into seven groups according to their gestational age and birth weight: extremely preterm appropriate-for-gestational age (AGA) group (n=12), preterm small-for-gestational age (SGA) group (n=18), preterm AGA group (n=219), preterm large-for-gestational age (LGA) group (n=18), full-term SGA group (n=206), full-term AGA group (n=2 677), and full-term LGA group (n=231)...
May 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29758563/pilot-study-of-population-based-newborn-screening-for-spinal-muscular-atrophy-in-new-york-state
#6
Jennifer N Kraszewski, Denise M Kay, Colleen F Stevens, Carrie Koval, Bianca Haser, Veronica Ortiz, Anthony Albertorio, Lilian L Cohen, Ritu Jain, Sarah P Andrew, Sally Dunaway Young, Nicole M LaMarca, Darryl C De Vivo, Michele Caggana, Wendy K Chung
PurposeTo determine feasibility and utility of newborn screening for spinal muscular atrophy (SMA) in New York State.MethodsWe validated a multiplex TaqMan real-time quantitative polymerase chain reaction assay using dried blood spots for SMA. From January 2016 to January 2017, we offered, consented, and screened 3,826 newborns at three hospitals in New York City and tested newborns for the deletion in exon 7 of SMN1.ResultsNinety-three percent of parents opted in for SMA screening. Overall the SMA carrier frequency was 1...
October 12, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29752748/epstein-barr-virus-antibody-titer-as-a-stress-biomarker-and-its-association-with-social-capital-in-rural-fujian-communities-china
#7
Aki Yazawa, Yosuke Inoue, Guoxi Cai, Raoping Tu, Meng Huang, Fei He, Jie Chen, Taro Yamamoto, Chiho Watanabe
OBJECTIVES: There has been little research on the association between social capital and psychological stress measured by a biomarker, particularly in developing countries. Our objective was to investigate the association between Epstein-Barr virus (EBV) antibody titer, an indicator of cellular immune function previously shown to be associated with psychological stress, and social capital among rural community dwellers in Fujian Province, China. METHODS: We conducted a cross-sectional survey in seven rural communities in Fujian in 2015...
May 11, 2018: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/29751121/evaluation-of-dried-blood-spot-sampling-for-pharmacokinetic-research-and-therapeutic-drug-monitoring-of-anti-tuberculosis-drugs-in-children
#8
Lisa C Martial, Jordy Kerkhoff, Nilza Martinez, Mabel Rodríguez, Rosarito Coronel, Gladys Molinas, Myriam Roman, Roscio Gomez, Sarita Aguirre, Erwin Jongedijk, Justine Huisman, Daan J Touw, Domingo Pérez, Gilberto Chaparro, Felipe Gonzalez, Rob E Aarnoutse, Jan-Willem Alffenaar, Cecile Magis-Escurra
BACKGROUND: Dried blood spot sampling (DBS) for pharmacokinetic (PK) studies and Therapeutic Drug Monitoring has unique advantages over venous sampling. We aimed to evaluate a DBS method for first-line anti-TB drugs in children, implemented DBS to assess PK parameters. METHODS: Paraguayan children were treated according to the revised paediatric WHO dosing scheme. A PK curve was performed both with DBS and conventional venous sampling for rifampicin, pyrazinamide and ethambutol...
May 8, 2018: International Journal of Antimicrobial Agents
https://www.readbyqxmd.com/read/29750678/ce-understanding-the-nurse-s-role-in-managing-gaucher-disease
#9
Erika R Vucko
How advances in screening, diagnosis, and treatment affect patient care. ABSTRACT: Lysosomal storage disorders (LSDs) are a group of inherited metabolic conditions, the overall incidence of which is estimated to range from one in 5,000 to one in 7,000 live births. Gaucher disease, the most common LSD, is of autosomal recessive inheritance. It results from a deficiency of acid β-glucocerebrosidase and can affect the spleen, liver, bone, bone marrow, and central nervous system. Gaucher disease is clinically classified into one of three phenotypes, depending on the absence or presence of neurodegenerative disease and the rate of disease progression...
May 11, 2018: American Journal of Nursing
https://www.readbyqxmd.com/read/29749107/mutation-analysis-of-the-pah-gene-in-phenylketonuria-patients-from-rio-de-janeiro-southeast-brazil
#10
Eduardo Vieira Neto, Francisco Laranjeira, Dulce Quelhas, Isaura Ribeiro, Alexandre Seabra, Nicole Mineiro, Lilian D M Carvalho, Lúcia Lacerda, Márcia G Ribeiro
BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive disease resulting from mutations in the PAH gene. Most of the patients are compound heterozygotes, and genotype is a major factor in determining the phenotypic variability of PKU. More than 1,000 variants have been described in the PAH gene. Rio de Janeiro's population has a predominance of Iberian, followed by African and Amerindian ancestries. It is expected that most PKU variants in this Brazilian state have originated in the Iberian Peninsula...
May 10, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29747155/manual-punch-versus-automated-flow-through-sample-desorption-for-dried-blood-spot-lc-ms-ms-analysis-of-voriconazole
#11
Lisa C Martial, Erik van den Hombergh, Cornelis Tump, Otto Halmingh, David M Burger, Erik M van Maarseveen, Roger J Brüggemann, Rob E Aarnoutse
Dried blood spot (DBS) sampling is a patient-friendly alternative for plasma sampling for the purpose of therapeutic drug monitoring (TDM). To speed up the analysis time, an automated flow-through desorption method of DBS samples may be beneficial. This article describes the cross-validation of a manual punch DBS method with an automated desorption (DBS autosampler, DBSA) method for the DBS analysis of the antifungal drug voriconazole, followed by cross-validation of both DBS methods with a plasma-based method, and an assessment of agreement between DBS/DBSA and regular plasma concentration measurements (gold standard) in samples from patients on voriconazole treatment...
April 27, 2018: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/29746648/effects-of-sofosbuvir-based-hepatitis-c-treatment-on-the-pharmacokinetics-of-tenofovir-in-hiv-hcv-coinfected-individuals-receiving-tenofovir-disoproxil-fumarate
#12
Christine E MacBrayne, Kristen M Marks, Daniel S Fierer, Susanna Naggie, Raymond T Chung, Michael D Hughes, Arthur Y Kim, Marion G Peters, Diana M Brainard, Sharon M Seifert, Jose R Castillo-Mancilla, Lane R Bushman, Peter L Anderson, Jennifer J Kiser
Background: The nucleotide analogues tenofovir and sofosbuvir are considered to have low potential for drug interactions. Objectives: To determine the effect of sofosbuvir-based HCV treatment on plasma concentrations of tenofovir and cellular concentrations of tenofovir diphosphate. Methods: HIV-infected participants with acute HCV were treated for 12 weeks with sofosbuvir + ribavirin in Cohort 1 or 8 weeks with ledipasvir/sofosbuvir in Cohort 2 of AIDS Clinical Trials Group study 5327...
May 9, 2018: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/29744560/correction-to-precise-accurate-and-user-independent-blood-collection-system-for-dried-blood-spot-sample-preparation
#13
Ricardo Neto, Andrew Gooley, Michael C Breadmore, Emily F Hilder, Florian Lapierre
The authors would like to call the reader's attention to the following: The instrument they used to measure the volumetric precision of the dispensing devices is not called "VMS" but "PCS®".
April 30, 2018: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/29743199/evaluation-of-dried-blood-spots-and-oral-fluids-as-alternatives-to-serum-for-human-papillomavirus-antibody-surveillance
#14
Karly S Louie, Jama Dalel, Caroline Reuter, Sara L Bissett, Michelle Kleeman, Lesley Ashdown-Barr, Rawinder Banwait, Anna Godi, Peter Sasieni, Simon Beddows
Human papillomavirus (HPV) vaccination elicits high-titer genotype-specific antibody responses that are associated with a reduced risk of cervical disease caused by vaccine-incorporated genotypes. Our objective was to evaluate dried blood spots (DBSs) and oral mucosal transudate (OMT) as alternative samples to serum to confirm HPV vaccine antibody status. A study was carried out to evaluate the feasibility of detecting HPV16 and HPV18 antibodies in OMT, DBSs, and sera among women who self-reported being unvaccinated or fully vaccinated with the HPV vaccine...
June 27, 2018: MSphere
https://www.readbyqxmd.com/read/29742245/late-onset-pompe-disease-what-is-the-prevalence-of-limb-girdle-muscular-weakness-presentation
#15
Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Nádia Sugano Higashi, Vânia D'Almeida, Lineu Cesar Werneck, Rosana Herminia Scola
Pompe disease is an inherited disease caused by acid alpha-glucosidase (GAA) deficiency. A single center observational study aimed at assessing the prevalence of late-onset Pompe disease in a high-risk Brazilian population, using the dried blood spot test to detect GAA deficiency as a main screening tool. Dried blood spots were collected for GAA activity assay from 24 patients with "unexplained" limb-girdle muscular weakness without vacuolar myopathy in their muscle biopsy. Samples with reduced enzyme activity were also investigated for GAA gene mutations...
April 2018: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29741414/hplc-based-measurement-of-glycated-hemoglobin-using-dried-blood-spots-collected-under-adverse-field-conditions
#16
Duncan Thomas, Teresa Seeman, Alan Potter, Peifeng Hu, Eileen Crimmins, Elizabeth Henny Herningtyas, Cecep Sumantri, Elizabeth Frankenberg
Glycated hemoglobin (HbA1c) measured using high-performance liquid chromatography (HPLC) assays with venous blood and dried blood spots (DBS) are compared for 143 paired samples collected in Aceh, Indonesia. Relative to gold-standard venous-blood values, DBS-based values reported by the HPLC are systematically upward biased for HbA1c<8% and the fraction diabetic (HbA1c ≥ 6.5%) is overstated almost five-fold. Inspection of chromatograms from DBS assays indicates the % glycosylated calculated by the HPLC excludes part of the hemoglobin A which is misidentified as a hemoglobin variant...
January 2018: Biodemography and Social Biology
https://www.readbyqxmd.com/read/29739104/prevalence-of-glucose-6-phosphate-dehydrogenase-deficiency-in-sichuan-china
#17
Jing Zhang, Yali Cui, Xia Wang, Yingying Li, Dongmei Jiang, Wei Dai, Yongmei Jiang
BACKGROUND: Our goals were to screen newborns and characterize the occurrence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in southwestern China. Meanwhile, we would like to analyze the factors that might affect the results of neonatal dried blood spots for glucose-6-phosphate dehydrogenase screening test, to improve the clinical quality control level, effectively reduce the external factors in the process of detection. METHODS: This study involved an evaluation of G6PD data for 20,644 newborns from a universal newborn screening program...
March 1, 2018: Clinical Laboratory
https://www.readbyqxmd.com/read/29733758/comparison-of-the-performance-of-enzyme-immunoassays-for-hepatitis-b-and-c-detection-in-dried-blood-spot
#18
Helena Medina Cruz, Juliana Custódio Miguel Cruz, Elisangela Ferreira Da Silva, Moyra Machado Portilho, Vanessa Alves Marques, Lia Laura Lewis-Ximenez, Elisabeth Lampe, Livia Melo Villar
Dried blood spots (DBSs) could be an alternative to serum for hepatitis B virus (HBV) and hepatitis C virus (HCV) diagnosis. This study aims to evaluate two enzyme immunoassays (EIAs) for HBsAg and anti-HCV detection using DBS. Serum was tested using commercial EIA. DBS was tested using optimized EIA developed for serum and commercial EIA developed for DBS (Imunoscreen). Concordances between DBS and serum samples for both markers and EIAs were higher than 97%. Both EIAs demonstrated good performance for HBsAg and anti-HCV detection using DBS, and these methods could be used unchangeably increasing the access for HBV and HCV diagnosis...
May 7, 2018: Journal of Immunoassay & Immunochemistry
https://www.readbyqxmd.com/read/29726117/a-lc-ms-ms-method-for-the-determination-of-cocaine-and-metabolites-in-blood-and-in-dried-blood-spots-dbs-collected-from-postmortem-samples-and-evaluation-of-the-stability-over-a-three-month-period
#19
Matteo Moretti, Silvia Damiana Visonà, Francesca Freni, Ilaria Tomaciello, Claudia Vignali, Angelo Groppi, Luca Tajana, Antonio Marco Maria Osculati, Luca Morini
The aims of this study were: a) to identify and quantify cocaine (COC), benzoylecgonine (BE), ecgonine methyl ester (EME) and cocaethylene (CE) in DBS; b) to compare DBSs analytical results with the routine blood analyses; c) to monitor analytes stability on DBS within a 3-month period. 85 μL of blood from postmortem cases were put on a card for DBS analysis and kept in the dark, at room temperature. Samples were extracted through SPE cartridges and injected in the LC-MS/MS system. The analytical procedure is simple, sensitive and specific...
May 4, 2018: Drug Testing and Analysis
https://www.readbyqxmd.com/read/29720407/diagnostic-potential-of-stored-dried-blood-spots-for-inborn-errors-of-metabolism-a-metabolic-autopsy-of-medium-chain-acyl-coa-dehydrogenase-deficiency
#20
Noriyuki Kaku, Kenji Ihara, Yuichiro Hirata, Kenji Yamada, Sooyoung Lee, Hikaru Kanemasa, Yoshitomo Motomura, Haruhisa Baba, Tamami Tanaka, Yasunari Sakai, Yoshihiko Maehara, Shouichi Ohga
AIM: It is estimated that 1-5% of sudden infant death syndrome (SIDS) cases might be caused by undiagnosed inborn errors of metabolism (IEMs); however, the postmortem identification of IEMs remains difficult. This study aimed to evaluate the usefulness of dried blood spots (DBSs) stored after newborn screening tests as a metabolic autopsy to determine the causes of death in infants and children who died suddenly and unexpectedly. METHODS: Infants or toddlers who had suddenly died without a definite diagnosis between July 2008 and December 2012 at Kyushu University Hospital in Japan were enrolled in this study...
May 2, 2018: Journal of Clinical Pathology
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