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https://www.readbyqxmd.com/read/29339442/specific-substrate-for-the-assay-of-lysosomal-acid-lipase
#1
Sophia Masi, Naveen Chennamaneni, Frantisek Turecek, C Ronald Scott, Michael H Gelb
BACKGROUND: Deficiency of lysosomal acid lipase (LAL) causes Wolman disease and cholesterol ester storage disease. With the recent introduction of enzyme replacement therapy to manage LAL deficiency comes the need for a reliable assay of LAL enzymatic activity that can be applied to dried blood spots (DBS). METHODS: We prepared and tested a library of analogs of palmitoyl 4-methylumbelifferyl esters to find a highly active and specific substrate for LAL in DBS. The LAL assay was optimized leading to both LC-MS/MS and fluorometric assay of LAL...
January 16, 2018: Clinical Chemistry
https://www.readbyqxmd.com/read/29333829/-galactosialidosis-a-new-de-novo-mutation-in-ctsa-gene-in-a-patient-with-late-infantile-galactosialidosis
#2
Lara García Hernández, Javier Sierra Sirvent, Laura Gort Mas, María J Coll Roseli
Galactosialidosis (OMIM #256540) is an autosomal recessive lysosomal storage disorder caused by mutations in the CTSA gene, which encodes the protective protein cathepsin A. The loss of function of this protein causes a secondarily deficiency of beta-galactosidase and N-acetyl-a-neuraminidase enzymes activities. We describe the clinical, biochemical and molecular analysis of a case report with a phenotype compatible with the late infantile form. The biochemical analysis reveled deficiencies of beta-galactosidase and neuraminidase activities in dried blood spot and fibroblasts and the molecular study showed two missense mutations in the CTSA gene: a previously reported mutation, p...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29332155/prevalence-of-the-pfdhfr-and-pfdhps-mutations-among-asymptomatic-pregnant-women-in-southeast-nigeria
#3
Ekpereonne Esu, Costanza Tacoli, Prabhanjan Gai, Nicole Berens-Riha, Michael Pritsch, Thomas Loescher, Martin Meremikwu
Sulfadoxine-pyrimethamine (SP) is the recommended drug for intermittent preventive treatment of malaria in pregnancy in most of sub-Saharan Africa. Resistance to SP is related to mutations in the dhfr and dhps gene of Plasmodium falciparum. This study determined the prevalence of Pfdhfr and Pfdhps polymorphisms found in asymptomatic pregnant women attending antenatal care in Calabar, Nigeria. From October 2013 to November 2014, asymptomatic pregnant women attending antenatal care clinics were enrolled after obtaining informed consent...
January 13, 2018: Parasitology Research
https://www.readbyqxmd.com/read/29317027/identification-of-potential-sphingomyelin-markers-for-the-estimation-of-hematocrit-in-dried-blood-spots-via-a-lipidomic-strategy
#4
Hsiao-Wei Liao, Shu-Wen Lin, Ya-Ting Lin, Ching-Hua Lee, Ching-Hua Kuo
The dried blood spot (DBS) strategy is a convenient and minimally invasive approach to blood sampling. Due to its various advantages, this sampling technique has drawn significant attention in recent years. Hematocrit (HCT)-associated bias is one of the main obstacles that hinder wider DBS application in clinical practice. An accurate HCT estimation method could help calibrate HCT-associated bias and improve the quantification accuracy. This study used a lipidomics profiling strategy to identify HCT estimation markers using liquid chromatography-electrospray ionization-mass spectrometry (LC-ESI-MS), which provided advantages including the potential for the simultaneous measurements of target drug and HCT values...
March 20, 2018: Analytica Chimica Acta
https://www.readbyqxmd.com/read/29316612/association-between-diet-quality-scores-adiposity-total-cholesterol-and-markers-of-nutritional-status-in-european-adults-findings-from-the-food4me-study
#5
Rosalind Fallaize, Katherine M Livingstone, Carlos Celis-Morales, Anna L Macready, Rodrigo San-Cristobal, Santiago Navas-Carretero, Cyril F M Marsaux, Clare B O'Donovan, Silvia Kolossa, George Moschonis, Marianne C Walsh, Eileen R Gibney, Lorraine Brennan, Jildau Bouwman, Yannis Manios, Miroslaw Jarosz, J Alfredo Martinez, Hannelore Daniel, Wim H M Saris, Thomas E Gundersen, Christian A Drevon, Michael J Gibney, John C Mathers, Julie A Lovegrove
Diet-quality scores (DQS), which are developed across the globe, are used to define adherence to specific eating patterns and have been associated with risk of coronary heart disease and type-II diabetes. We explored the association between five diet-quality scores (Healthy Eating Index, HEI; Alternate Healthy Eating Index, AHEI; MedDietScore, MDS; PREDIMED Mediterranean Diet Score, P-MDS; Dutch Healthy Diet-Index, DHDI) and markers of metabolic health (anthropometry, objective physical activity levels (PAL), and dried blood spot total cholesterol (TC), total carotenoids, and omega-3 index) in the Food4Me cohort, using regression analysis...
January 6, 2018: Nutrients
https://www.readbyqxmd.com/read/29305734/olipudase-alfa-for-treatment-of-acid-sphingomyelinase-deficiency-asmd-safety-and-efficacy-in-adults-treated-for-30-months
#6
Melissa P Wasserstein, George A Diaz, Robin H Lachmann, Marie-Hélène Jouvin, Indrani Nandy, Allena J Ji, Ana Cristina Puga
Olipudase alfa, a recombinant human acid sphingomyelinase (ASM), is an enzyme replacement therapy for the treatment of nonneurologic manifestations of acid sphingomyelinase deficiency (ASMD). This ongoing, open-label, long-term study (NCT02004704) assessed safety and efficacy of olipudase alfa following 30 months of treatment in five adult patients with ASMD. There were no deaths, serious or severe events, or discontinuations during 30 months of treatment. The majority of adverse events were mild and included headache, nausea, and abdominal pain...
January 5, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29302509/a-novel-homozygous-lipa-mutation-in-a-korean-child-with-lysosomal-acid-lipase-deficiency
#7
Kwang Yeon Kim, Ju Whi Kim, Kyung Jae Lee, Eunhyang Park, Gyeong Hoon Kang, Young Hun Choi, Woo Sun Kim, Jung Min Ko, Jin Soo Moon, Jae Sung Ko
Patients with lysosomal acid lipase (LAL) deficiency and glycogen storage disease (GSD) demonstrated hepatomegaly and dyslipidemia. In our case, a 6-year-old boy presented with hepatosplenomegaly. At 3 years of age, GSD had been diagnosed by liver biopsy at another hospital. He showed elevated serum liver enzymes and dyslipidemia. Liver biopsy revealed diffuse microvesicular fatty changes in hepatocytes, septal fibrosis and foamy macrophages. Ultrastructural examination demonstrated numerous lysosomes that contained lipid material and intracytoplasmic cholesterol clefts...
December 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/29282199/comparison-of-hemoglobin-a1c-results-based-on-at-home-and-in-lab-dried-blood-spot-sampling-to-routine-venous-blood-sampling-in-lab-in-adult-patients-with-type-1-or-type-2-diabetes
#8
Thomas G Elliott, Kent C Dooley, Mira Zhang, Harlan S D Campbell, Darby J S Thompson
OBJECTIVES: Regular measurement of glycated hemoglobin (A1C) is logistically demanding. Home blotter-paper collection offers an alternative. This study tested the viability of at-home blotter-paper A1C measurement. METHODS: Objective: compare accuracy of A1C levels collected on blotter paper at home (home-blotter) and blotter-paper collection in laboratory (lab-blotter) with venous A1C (routine measurement). Agreement was assessed by Pearson correlation, Lin concordance correlation coefficient (CCC), positive and negative predictive values (PPVs, NPVs) and Bland-Altman plots and associated statistics...
December 25, 2017: Canadian Journal of Diabetes
https://www.readbyqxmd.com/read/29281927/neonatal-screening-for-congenital-cmv-infection-stresses-the-importance-of-maternal-nonprimary-infection-even-in-an-area-where-prenatal-serology-testing-is-common
#9
Vassiliki Papaevangelou, Zoi Christoni, Christianna Vliora, Christine Kottaridi, Aikaterini Fotiou, Ariadne Malamitsi-Puchner, Andreas Mentis, Petros Karakitsos, Angeliki Syggelou
AIM AND METHODS: Dried blood spots from 2149 newborns were examined to diagnose congenital cytomegalovirus (cCMV). RESULTS: Prenatal CMV-IgG antibodies had been measured during prenatal care in 1287 (60.3%) of mothers and 980 (76.1%) of them were found seropositive. cCMV incidence was 0.47%. All newborns were asymptomatic; 9/10 were born post nonprimary maternal infection; two developed sensorineural hearing loss. CONCLUSIONS: In a country where prenatal CMV testing is common and therefore a false sense of control might prevail, nonprimary maternal infection should not be overlooked...
December 27, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29281263/correction-for-the-hematocrit-bias-in-dried-blood-spot-analysis-using-a-non-destructive-single-wavelength-reflectance-based-hematocrit-prediction-method
#10
Sara Capiau, Leah S Wilk, Pieter M M de Kesel, Maurice C G Aalders, Christophe P Stove
The hematocrit (Hct) effect is one of the most important hurdles currently preventing more widespread implementation of quanti-tative dried blood spot (DBS) analysis in a routine context. Indeed, the Hct may affect both the accuracy of DBS methods, as well as the interpretation of DBS-based results. We previously developed a method to determine the Hct of a DBS based on its hemoglobin content using non-contact diffuse reflectance spectroscopy. Despite the ease with which the analysis can be performed (i.e. mere scanning of the DBS) and the good results which were obtained, the method did require a complicated algorithm to derive the total hemoglobin content from the DBS's reflectance spectrum...
December 27, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/29249827/schizophrenia-risk-and-urban-birth-are-associated-with-proteomic-changes-in-neonatal-dried-blood-spots
#11
Jason D Cooper, Sureyya Ozcan, Renee M Gardner, Nitin Rustogi, Susanne Wicks, Geertje F van Rees, F Markus Leweke, Christina Dalman, Håkan Karlsson, Sabine Bahn
In the present study, we tested whether there were proteomic differences in blood between schizophrenia patients after the initial onset of the disorder and controls; and whether those differences were also present at birth among neonates who later developed schizophrenia compared to those without a psychiatric admission. We used multiple reaction monitoring mass spectrometry to quantify 77 proteins (147 peptides) in serum samples from 60 first-onset drug-naive schizophrenia patients and 77 controls, and 96 proteins (152 peptides) in 892 newborn blood-spot (NBS) samples collected between 1975 and 1985...
December 18, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/29248014/a-cluster-randomized-controlled-trial-of-lay-health-worker-support-for-prevention-of-mother-to-child-transmission-of-hiv-pmtct-in-south-africa
#12
Karl Peltzer, Stephen M Weiss, Manasi Soni, Tae Kyoung Lee, Violeta J Rodriguez, Ryan Cook, Maria Luisa Alcaide, Geoffrey Setswe, Deborah L Jones
BACKGROUND: We evaluate the impact of clinic-based PMTCT community support by trained lay health workers in addition to standard clinical care on PMTCT infant outcomes. METHODS: In a cluster randomized controlled trial, twelve community health centers (CHCs) in Mpumalanga Province, South Africa, were randomized to have pregnant women living with HIV receive either: a standard care (SC) condition plus time-equivalent attention-control on disease prevention (SC; 6 CHCs; n  = 357), or an enhanced intervention (EI) condition of SC PMTCT plus the "Protect Your Family" intervention (EI; 6 CHCs; n  = 342)...
December 16, 2017: AIDS Research and Therapy
https://www.readbyqxmd.com/read/29247206/a-next-generation-newborn-screening-pilot-study-ngs-on-dried-blood-spots-detects-causal-mutations-in-patients-with-inherited-metabolic-diseases
#13
F Boemer, C Fasquelle, S d'Otreppe, C Josse, V Dideberg, K Segers, V Guissard, V Capraro, F G Debray, V Bours
The range of applications performed on dried blood spots (DBS) widely broadened during the past decades to now include next-generation sequencing (NGS). Previous publications provided a general overview of NGS capacities on DBS-extracted DNA but did not focus on the identification of specific disorders. We thus aimed to demonstrate that NGS was reliable for detecting pathogenic mutations on genomic material extracted from DBS. Assuming the future implementation of NGS technologies into newborn screening (NBS), we conducted a pilot study on fifteen patients with inherited metabolic disorders...
December 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29243489/application-of-matrix-assisted-laser-desorption-ionization-mass-spectrometry-imaging-in-combination-with-lc-ms-in-pharmacokinetic-study-of-metformin
#14
Štěpán Strnad, Vladimír Vrkoslav, Zuzana Klimšová, Jana Zemenová, Josef Cvačka, Lenka Maletínská, David Sýkora
AIM: To demonstrate and discuss the pros and cons of various conventional and innovative analytical approaches. Methodology & results: Matrix-assisted laser desorption/ionization mass spectrometry imaging (MSI) of tissue sections as well as the extraction of tissue homogenates, blood plasma and dried blood spots coupled with LC-MS were employed to monitor the pharmacokinetics of metformin in mice. The time profile of metformin measured by matrix-assisted laser desorption/ionization MSI correlated well with the results found by LC-MS...
December 15, 2017: Bioanalysis
https://www.readbyqxmd.com/read/29237689/technical-advances-for-the-clinical-genomic-evaluation-of-sudden-cardiac-death-verification-of-next-generation-sequencing-panels-for-hereditary-cardiovascular-conditions-using-formalin-fixed-paraffin-embedded-tissues-and-dried-blood-spots
#15
Linnea M Baudhuin, Charles Leduc, Laura J Train, Rajeswari Avula, Michelle L Kluge, Katrina E Kotzer, Peter T Lin, Michael J Ackerman, Joseph J Maleszewski
BACKGROUND: Postmortem genetic testing for heritable cardiovascular (CV) disorders is often lacking because ideal specimens (ie, whole blood) are not retained routinely at autopsy. Formalin-fixed paraffin-embedded tissue (FFPET) is ubiquitously collected at autopsy, but DNA quality hampers its use with traditional sequencing methods. Targeted next-generation sequencing may offer the ability to circumvent such limitations, but a method has not been previously described. The primary aim of this study was to develop and evaluate the use of FFPET for heritable CV disorders via next-generation sequencing...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29228144/randomized-controlled-trial-of-daily-text-messages-to-support-adherence-to-prep-in-at-risk-for-hiv-individuals-the-tapir-study
#16
David J Moore, Sonia Jain, Michael P Dubé, Eric S Daar, Xiaoying Sun, Jason Young, Katya Corado, Eric Ellorin, Joel Milam, Deborah Collins, Jill Blumenthal, Brookie M Best, Peter Anderson, Richard Haubrich, Sheldon R Morris
Background: Adherence is critical for efficacy of tenofovir disoproxil fumarate/emtricitabine as pre-exposure prophylaxis (PrEP). Methods: Between 02/2013 and 02/2016, 398 men who have sex with men and transgender women were randomized 1:1 to receive individualized Texting for Adherence Building (iTAB) or standard care (SoC) for 48 weeks. The primary endpoint was dried blood spot (DBS) tenofovir (TFV-DP) concentrations at both week 12 and week 48 (or the last on-drug visit) of >719 fmol/punch consistent with ≥4 doses per week (i...
November 24, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29227985/low-frequency-of-fabry-disease-in-patients-with-common-heart-disease
#17
Raphael Schiffmann, Caren Swift, Nathan McNeill, Elfrida R Benjamin, Jeffrey P Castelli, Jay Barth, Lawrence Sweetman, Xuan Wang, Xiaoyang Wu
PurposeTo test the hypothesis that undiagnosed patients with Fabry disease exist among patients affected by common heart disease.MethodsGlobotriaosylceramide in random whole urine using tandem mass spectroscopy, α-galactosidase A activity in dried blood spots, and next-generation sequencing of pooled or individual genomic DNA samples supplemented by Sanger sequencing.ResultsWe tested 2,256 consecutive patients: 852 women (median age 65 years (19-95)) and 1,404 men (median age 65 years (21-92)). The primary diagnoses were coronary artery disease (n = 994), arrhythmia (n = 607), cardiomyopathy (n = 138), and valvular disease (n = 568)...
October 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29224166/dna-methylation-analysis-from-blood-spots-increasing-yield-and-quality-for-genome-wide-and-locus-specific-methylation-analysis
#18
Akram Ghantous, Hector Hernandez-Vargas, Zdenko Herceg
Blood represents an easily accessible human tissue for numerous research and clinical applications, including surrogate roles for biomarkers of other tissues. Dried blood spots (DBS) are space- and cost-efficient storage forms of blood while stably retaining many of its chemical constituents. Consequently, neonatal DBS are routinely collected in many countries, and their biobanks represent gold mines for research. However, the utility of DBS is restricted by the limited amount and quality of extractable biomolecules (including DNA), especially for genome-wide profiling...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29222715/clinical-validation-study-of-dried-blood-spot-for-determining-everolimus-concentration-in-patients-with-cancer
#19
A E C A B Willemsen, L M Knapen, Y M de Beer, R J M Brüggemann, S Croes, C M L van Herpen, N P van Erp
PURPOSE: Everolimus treatment is seriously hampered by its toxicity profile. As a relationship between everolimus exposure and effectiveness and toxicity has been established, early and ongoing concentration measurement can be key to individualize the dose and optimize treatment outcomes. Dried blood spot (DBS) facilitates sampling at a patients' home and thereby eases dose individualization. The aim of this study is to determine the agreement and predictive performance of DBS compared to whole blood (WB) to measure everolimus concentrations in cancer patients...
December 8, 2017: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29222521/cytokines-and-chemokines-measured-in-dried-sla-stimulated-whole-blood-spots-for-asymptomatic-leishmania-infantum-and-leishmania-donovani-infection
#20
A V Ibarra-Meneses, D Mondal, J Alvar, J Moreno, E Carrillo
Whole blood stimulation with soluble Leishmania antigen (SLA), followed by plasma cytokine and chemokine determination, provides means of detecting subjects with asymptomatic Leishmania infection. This work examines the potential of Protein Saver 903 cards for the storage and transport of SLA-stimulated dried plasma spot samples. Blood was collected from asymptomatic and negative control subjects living in a Leishmania infantum- (Spain) and Leishmania donovani-endemic area (Bangladesh). After SLA-stimulation, three types of sample were prepared: frozen liquid plasma (-20 °C), and plasma dropped onto Protein Saver cards kept at -20 °C (DPS-FZ), and at ambient temperature (DPS-AT)...
December 8, 2017: Scientific Reports
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