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https://www.readbyqxmd.com/read/28544702/within-person-reproducibility-and-sensitivity-to-dietary-change-of-c15-0-and-c17-0-levels-in-dried-blood-spots-data-from-the-european-food4me-study
#1
Viviana Albani, Carlos Celis-Morales, Clare B O'Donovan, Marianne C Walsh, Clara Woolhead, Hannah Forster, Rosalind Fallaize, Anna L Macready, Cyril F M Marsaux, Santiago Navas-Carretero, Rodrigo San-Cristobal, Silvia Kolossa, Christina Mavrogianni, Christina P Lambrinou, George Moschonis, Magdalena Godlewska, Agnieszka Surwillo, Iwona Traczyk, Thomas E Gundersen, Christian A Drevon, Hannelore Daniel, Yannis Manios, J Alfredo Martinez, Wim H M Saris, Julie A Lovegrove, Michael J Gibney, Eileen R Gibney, John C Mathers, Ashley J Adamson, Lorraine Brennan
SCOPE: Previous work highlighted the potential of odd-chain length saturated fatty acids as potential markers of dairy intake. The aim of this study was to assess the reproducibility of these biomarkers and their sensitivity to changes in dairy intake. METHODS AND RESULTS: Fatty acid profiles and dietary intakes from food frequency questionnaires (FFQs) were measured three times over six months in the Food4Me Study. Reproducibility was explored through intra-class correlation coefficients (ICCs) and within-subject coefficients of variation (WCV)...
May 24, 2017: Molecular Nutrition & Food Research
https://www.readbyqxmd.com/read/28535452/highly-sensitive-uhplc-ms-ms-method-for-the-simultaneous-estimation-of-propafenone-and-its-metabolites-5-hydroxypropafenone-and-n-depropylpropafenone-on-human-dried-blood-spots-technique-and-application-to-a-pharmacokinetic-study
#2
Adinarayana Andy, Raja Reddy Kallem, Ramesh Mullangi, Divya Andy, J V L N Seshagiri Rao
A highly sensitive, rapid and selective UHPLC-MS/MS method has been developed and validated for quantification of the propafenone (PF), 5-hydroxypropafenone (5-OHPF) and N-depropylpropafenone (N-DPF) on human dried blood spot (DBS). The assay procedure involves a solid-liquid extraction of PF, 5-OHPF and N-DPF and amlodipine (internal standard, I.S.) from dried human DBS cards using water and acetonitrile. The chromatographic resolution was achieved on a BEH C18 column using a gradient mobile phase consisting of 0...
May 11, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28532785/best-practice-in-the-measurement-and-interpretation-of-lysosomal-acid-lipase-in-dried-blood-spots-using-the-inhibitor-lalistat-2
#3
Zoltan Lukacs, Marianne Barr, John Hamilton
Lysosomal acid lipase deficiency (LAL-D) is an inherited, autosomal recessive lysosomal storage disorder characterized by progressive damage in multiple organ systems. Diagnosis is especially important in infants, in whom the course of disease is rapidly lethal without treatment. The recent regulatory approval of recombinant human lysosomal acid lipase (LAL), sebelipase alfa, merits rapid diagnosis in clinical routine, particularly in infants. A method for measuring LAL activity in dried blood spot (DBS) samples using the highly specific LAL inhibitor Lalistat 2 is available...
May 19, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28531553/hiv-1-viral-load-measurement-in-venous-blood-and-fingerprick-blood-using-abbott-realtime-hiv-1-dbs-assay
#4
Ning Tang, Vihanga Pahalawatta, Andrea Frank, Zowie Bagley, Raquel Viana, John Lampinen, Gregor Leckie, Shihai Huang, Klara Abravaya, Carole L Wallis
BACKGROUND: HIV RNA suppression is a key indicator for monitoring success of antiretroviral therapy. From a logistical perspective, viral load (VL) testing using Dried Blood Spots (DBS) is a promising alternative to plasma based VL testing in resource-limited settings. OBJECTIVES: To evaluate the analytical and clinical performance of the Abbott RealTime HIV-1 assay using a fully automated one-spot DBS sample protocol. STUDY DESIGN: Limit of detection (LOD), linearity, lower limit of quantitation (LLQ), upper limit of quantitation (ULQ), and precision were determined using serial dilutions of HIV-1 Virology Quality Assurance stock (VQA Rush University), or HIV-1-containing armored RNA, made in venous blood...
May 13, 2017: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/28526661/the-parasol-protocol-an-implementation-science-study-of-hiv-continuum-of-care-interventions-for-gay-men-and-transgender-women-in-burma-myanmar
#5
Andrea L Wirtz, Soe Naing, Emily Clouse, Kaung Htet Thu, Sandra Hsu Hnin Mon, Zin Min Tun, Stefan Baral, Aung Zayar Paing, Chris Beyrer
BACKGROUND: Efforts to improve HIV diagnosis and antiretroviral therapy (ART) initiation among people living with HIV and reduce onward transmission of HIV rely on innovative interventions along multiple steps of the HIV care continuum. These innovative methods are particularly important for key populations, including men who have sex with men (MSM) and transgender women (TW). The HIV epidemic in Myanmar is concentrated among key populations, and national efforts now focus on reducing stigma and improving engagement of MSM and TW in HIV prevention and care...
May 17, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28525790/quantitative-lc-hrms-determination-of-selected-cardiovascular-drugs-in-dried-blood-spots-as-an-indicator-of-adherence-to-medication
#6
Dennis Bernieh, Graham Lawson, Sangeeta Tanna
Dried blood spot (DBS) sampling was investigated as a means of obtaining micro-volume blood samples for the quantitative analyses of ten commonly UK prescribed cardiovascular drugs as an indicator of medication adherence. An 8mm disc was punched out from each DBS from calibration, quality control and volunteer samples and extracted using methanol containing the internal standard. Each extract was evaporated to dryness, the residue reconstituted in methanol:water (40:60v/v) containing 0.1% formic acid and analysed by LC-HRMS...
May 6, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28522225/genetic-screening-of-spinal-muscular-atrophy-using-a-real-time-modified-cop-pcr-technique-with-dried-blood-spot-dna
#7
Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Kenta Nakanishi, Hiroyuki Awano, Ichiro Morioka, Kazumoto Iijima, Toshio Saito, Kayoko Saito, Poh San Lai, Yasuhiro Takeshima, Atsuko Takeuchi, Yoshihiro Bouike, Maya Okamoto, Hisahide Nishio, Masakazu Shinohara
BACKGROUND: Spinal muscular atrophy (SMA) is a common neuromuscular disorder caused by mutations in SMN1. More than 95% of SMA patients carry homozygous SMN1 deletion. SMA is the leading genetic cause of infant death, and has been considered an incurable disease. However, a recent clinical trial with an antisense oligonucleotide drug has shown encouraging clinical efficacy. Thus, early and accurate detection of SMN1 deletion may improve prognosis of many infantile SMA patients. METHODS: A total of 88 DNA samples (37 SMA patients, 12 carriers and 39 controls) from dried blood spots (DBS) on filter paper were analyzed...
May 15, 2017: Brain & Development
https://www.readbyqxmd.com/read/28521623/enzyme-linked-immunoassay-based-quantitative-measurement-of-apolipoprotein-b-apob-in-dried-blood-spots-a-biomarker-of-cardiovascular-disease-risk
#8
Geeta N Eick, Paul Kowal, Tyler Barrett, Elizabeth A Thiele, J Josh Snodgrass
Apolipoprotein B (ApoB) is a strong predictor of cardiovascular disease, which remains the leading cause of mortality in both higher and lower income countries. Here, we adapted an enzyme-linked immunosorbent assay (ELISA) development kit for quantitative determination of ApoB levels in serum and plasma for use with dried blood spots (DBS). After confirming the dilution linearity of the assay for DBS, we measured ApoB in 208 venous DBS samples. Then, using Passing-Bablok regression analysis and Spearman rank correlation analysis, we evaluated the correspondence in ApoB values between matched plasma and finger-prick DBS samples from 40 individuals who had ApoB values spanning the range of ApoB values observed in the 208 vDBS samples...
2017: Biodemography and Social Biology
https://www.readbyqxmd.com/read/28520816/high-prevalence-of-elevated-blood-lead-levels-in-both-rural-and-urban-iowa-newborns-spatial-patterns-and-area-level-covariates
#9
Margaret Carrel, David Zahrieh, Sean G Young, Jacob Oleson, Kelli K Ryckman, Brian Wels, Donald L Simmons, Audrey Saftlas
Lead in maternal blood can cross the placenta and result in elevated blood lead levels in newborns, potentially producing negative effects on neurocognitive function, particularly if combined with childhood lead exposure. Little research exists, however, into the burden of elevated blood lead levels in newborns, or the places and populations in which elevated lead levels are observed in newborns, particularly in rural settings. Using ~2300 dried bloods spots collected within 1-3 days of birth among Iowa newborns, linked with the area of mother's residence at the time of birth, we examine the spatial patterns of elevated (>5 μg/dL) blood lead levels and the ecological-level predictors of elevated blood lead levels...
2017: PloS One
https://www.readbyqxmd.com/read/28516040/a-newborn-case-with-carnitine-palmitoyltransferase-ii-deficiency-initially-judged-as-unaffected-by-acylcarnitine-analysis-soon-after-birth
#10
Kenji Yamada, Ryosuke Bo, Hironori Kobayashi, Yuki Hasegawa, Mako Ago, Seiji Fukuda, Seiji Yamaguchi, Takeshi Taketani
Carnitine palmitoyltransferase II (CPT-2) deficiency, an autosomal recessive disorder of fatty acid oxidation, can be detected by newborn screening using tandem mass spectrometry (TMS). Our case was a boy born at 38 weeks and 6 days of gestation via normal vaginal delivery; his elder sister was affected with CPT-2 deficiency. Acylcarnitine (AC) was analyzed in both dried blood spots (DBS) and serum 2 h after birth to determine whether the boy was also affected. His C16 and C18:1 AC levels in DBS were in the normal range, while his serum long-chain AC levels were marginally increased but lower than those of his sister...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28515472/carrier-frequency-of-wilson-s-disease-in-the-korean-population-a-dna-based-approach
#11
Ja-Hyun Jang, Taeheon Lee, Sunghee Bang, Young-Eun Kim, Eun-Hae Cho
Wilson's disease (WD) is an autosomal recessive disorder caused by ATP7B gene mutation. The frequency of WD is about 1 in 30 000 worldwide. In the present study, we screened 14 835 dried blood spots (DBSs) from asymptomatic Korean neonates and retrospectively reviewed massively parallel sequencing of 1090 control individuals to estimate carrier frequency. TaqMan real-time PCR assays were conducted to detect six mutations that account for 58.3% of mutations in Korean WD patients: c.2333G>T (p.Arg778Leu), c...
May 18, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28515065/neonatal-vitamin-d-status-from-archived-dried-blood-spots-and-future-risk-of-fractures-in-childhood-results-from-the-d-tect-study-a-population-based-case-cohort-study
#12
Mina Nicole Händel, Peder Frederiksen, Arieh Cohen, Cyrus Cooper, Berit Lilienthal Heitmann, Bo Abrahamsen
Background: Whether antenatal and neonatal vitamin D status have clinical relevance in fracture prevention has not been examined extensively, although observational studies indicate that fetal life may be a sensitive period in relation to bone growth and mineralization during childhood.Objective: We examined whether 25-hydroxyvitamin D3 [25(OH)D3] concentrations in stored neonatal dried blood spot (DBS) samples are associated with pediatric fracture risk. We hypothesized that in particular, low neonatal vitamin D status may be a risk factor for fracture incidence among children...
May 17, 2017: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28510049/education-for-fathers-about-newborn-screening-and-leftover-dried-blood-spots
#13
Erin Rothwell, Bob Wong, Erin Johnson, Jeffrey R Botkin
The purpose of this research was to assess the impact of an educational intervention on paternal knowledge, attitudes, and support about newborn screening (NBS) and dried blood spots (DBS). Participants (n = 147) were randomized into one of two groups. The results from this study indicated that video education tools about NBS and DBS is associated with significantly increased knowledge, support, and satisfaction for both NBS and research use of DBS and an opt-out consent approach for DBS among fathers.
May 16, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28506632/evaluation-of-hbsag-and-anti-hbc-assays-in-saliva-and-dried-blood-spot-samples-according-hiv-status
#14
Geane Lopes Flores, Helena Medina Cruz, Denise Vigo Potsch, Silvia Beatriz May, Carlos Eduardo Brandão-Mello, Marcia Maria Amendola Pires, Jose Henrique Pilotto, Lia Laura Lewis-Ximenez, Elisabeth Lampe, Livia Melo Villar
Influence of HIV status in HBV markers detection in saliva and dried blood spots (DBS) was not well established. This study aims to evaluate the performance of optimized commercial immunoassay for identifying HBsAg and anti-HBc in saliva and DBS according HIV status. A sum of 535 individuals grouped as HIV(+), HBV(+), HIV/HBV(+) and HIV/HBV- were recruited where 347 and 188 were included for HBsAg and anti-HBc evaluation, respectively. Serum, DBS collected in Whatman 903 paper and saliva obtained using salivette device were analyzed using EIA...
May 12, 2017: Journal of Virological Methods
https://www.readbyqxmd.com/read/28501802/stability-of-proteins-in-dried-blood-spot-biobanks
#15
Johan Björkesten, Stefan Enroth, Qiujin Shen, Lotta Wik, David Hougaard, Arieh Cohen, Lene Sörensen, Vilmantas Giedraitis, Martin Ingelsson, Anders Larsson, Masood Kamali-Moghaddam, Ulf Landegren
An important motivation for the construction of biobanks is to discover biomarkers that identify diseases at early, potentially curable stages. This will require biobanks from large numbers of individuals, preferably sampled repeatedly, where the samples are collected and stored under conditions that preserve potential biomarkers. Dried blood samples are attractive for biobanking because of the ease and low cost of collection and storage. Here we have investigated their suitability for protein measurements...
May 13, 2017: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/28498184/viral-suppression-and-hiv-drug-resistance-at-6-months-among-women-in-malawi-s-option-b-program-results-from-the-pure-malawi-study
#16
Mina Hosseinipour, Julie A E Nelson, Clement Trapence, Sarah E Rutstein, Florence Kasende, Virginia Kayoyo, Blessings Kaunda-Khangamwa, Kara Compliment, Christopher Stanley, Fabian Cataldo, Monique van Lettow, Nora E Rosenberg, Hannock Tweya, Salem Gugsa, Veena Sampathkumar, Erik Schouten, Michael Eliya, Frank Chimbwandira, Levison Chiwaula, Atupele Kapito-Tembo, Sam Phiri
BACKGROUND: In 2011, Malawi launched Option B+, a program of universal antiretroviral therapy (ART) treatment for pregnant and lactating women to optimize maternal health and prevent pediatric HIV infection. For optimal outcomes, women need to achieve HIVRNA suppression. We report 6-month HIVRNA suppression and HIV drug resistance in the PURE study. METHODS: PURE study was a cluster-randomized controlled trial evaluating 3 strategies for promoting uptake and retention; arm 1: Standard of Care, arm 2: Facility Peer Support, and arm 3: Community Peer support...
June 1, 2017: Journal of Acquired Immune Deficiency Syndromes: JAIDS
https://www.readbyqxmd.com/read/28492134/simplified-25-hydroxyvitamin-d-standardization-and-optimization-in-dried-blood-spots-by-lc-ms-ms
#17
Andrew J Makowski, John A Rathmacher, Ronald L Horst, Christopher T Sempos
Previous studies have assessed vitamin D status based on the 25-hydroxyvitamin D [25(OH)D] concentration measured in samples from dried blood spots (DBSs). In 40 individuals participating in a clinical study, we compared 25(OH)D levels measured from DBSs and in serum using an LC-MS/MS reference procedure in collaboration with the Vitamin D Standardization Program. The main objective was to simplify and optimize current methods to produce an assay that can be used as a screening tool for 25(OH)D concentration assessment without derivatization...
May 11, 2017: Journal of AOAC International
https://www.readbyqxmd.com/read/28489558/evaluation-of-factors-associated-with-elevated-newborn-17-hydroxyprogesterone-levels
#18
V Shobi Anandi, Bhattacharyya Shaila
BACKGROUND: Measurement of 17-hydroxyprogesterone (17-OHP) in dried blood spots has been widely used as a newborn screening tool for congenital adrenal hyperplasia (CAH). Various maternal and neonatal factors can result in falsely high values of 17-OHP. There is a paucity of Indian studies in this regard because routine evaluation of newborn 17-OHP levels as a screening program is not widely practiced in India. Hence, this study was undertaken to evaluate the influence of various maternal and neonatal factors on newborn 17-OHP levels...
May 10, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28489334/diagnosis-of-copan-by-whole-exome-sequencing-waking-up-a-sleeping-tiger-s-eye
#19
Christina Evers, Angelika Seitz, Birgit Assmann, Thomas Opladen, Stephanie Karch, Katrin Hinderhofer, Martin Granzow, Nagarajan Paramasivam, Roland Eils, Nicolle Diessl, Claus R Bartram, Ute Moog
Neurodegeneration with brain iron accumulation (NBIA) is a group of neurodegenerative disorders characterized by iron accumulation in the basal ganglia. Recently, mutations in CoA synthase (COASY) have been identified as a cause of a novel NBIA subtype (COASY Protein-Associated Neurodegeneration, CoPAN) in two patients with dystonic paraparesis, parkinsonian features, cognitive impairment, behavior abnormalities, and axonal neuropathy. COASY encodes an enzyme required for Coenzyme A (CoA) biosynthesis. Using whole exome sequencing (WES) we identified compound heterozygous COASY mutations in two siblings with intellectual disability, ataxic gait, progressive spasticity, and obsessive-compulsive behavior...
May 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28487825/evaluation-of-whole-genome-amplified-dna-to-decrease-material-expenditure-and-increase-quality
#20
Marie Bækvad-Hansen, Jonas Bybjerg-Grauholm, Jesper B Poulsen, Christine S Hansen, David M Hougaard, Mads V Hollegaard
AIM: The overall aim of this study is to evaluate whole genome amplification of DNA extracted from dried blood spot samples. We wish to explore ways of optimizing the amplification process, while decreasing the amount of input material and inherently the cost. Our primary focus of optimization is on the amount of input material, the amplification reaction volume, the number of replicates and amplification time and temperature. Increasing the quality of the amplified DNA and the subsequent results of array genotyping is a secondary aim of this project...
June 2017: Molecular Genetics and Metabolism Reports
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