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https://www.readbyqxmd.com/read/28631936/the-recent-developments-in-sample-preparation-for-mass-spectrometry-based-metabolomics
#1
Zhi-Gang Gong, Jing Hu, Xi Wu, Yong-Jiang Xu
Metabolomics is a critical member in systems biology. Although great progress has been achieved in metabolomics, there are still some problems in sample preparation, data processing and data interpretation. In this review, we intend to explore the roles, challenges and trends in sample preparation for mass spectrometry- (MS-) based metabolomics. The newly emerged sample preparation methods were also critically examined, including laser microdissection, in vivo sampling, dried blood spot, microwave, ultrasound and enzyme-assisted extraction, as well as microextraction techniques...
February 8, 2017: Critical Reviews in Analytical Chemistry
https://www.readbyqxmd.com/read/28631226/introduction-of-a-simple-second-tier-screening-test-for-c5-isobars-in-dried-blood-spots-reducing-the-false-positive-rate-for-isovaleric-acidaemia-in-expanded-newborn-screening
#2
R S Carling, D Burden, I Hutton, R Randle, K John, J R Bonham
In 2015 the English Newborn Screening programme expanded to include Isovaleric Acidaemia (IVA). Screening is performed by flow injection analysis tandem mass spectrometry of isovalerylcarnitine. Isovalerylcarnitine is isobaric with pivaloylcarnitine which can be present in blood due to the use of pivalic ester pro-drugs or pivalic acid derivatives used as emollients in some nipple creams; the potential for false positives (FP) is well documented. A pilot study in England screened 438,164 babies, 18 had presumptive positive results but only 4 were confirmed as true positives (TP)...
June 20, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28630868/serum-dried-samples-to-detect-dengue-antibodies-a-field-study
#3
Angelica Maldonado-Rodríguez, Othon Rojas-Montes, Guillermo Vazquez-Rosales, Adolfo Chavez-Negrete, Magdalena Rojas-Uribe, Araceli Posadas-Mondragon, Leopoldo Aguilar-Faisal, Ana Maria Cevallos, Beatriz Xoconostle-Cazares, Rosalia Lira
BACKGROUND: Dried blood and serum samples are useful resources for detecting antiviral antibodies. The conditions for elution of the sample need to be optimized for each disease. Dengue is a widespread disease in Mexico which requires continuous surveillance. In this study, we standardized and validated a protocol for the specific detection of dengue antibodies from dried serum spots (DSSs). METHODS: Paired serum and DSS samples from 66 suspected cases of dengue were collected in a clinic in Veracruz, Mexico...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28629849/analysis-of-archived-newborn-dried-blood-spots-dbs-identifies-congenital-cytomegalovirus-as-a-major-cause-of-unexplained-pediatric-sensorineural-hearing-loss
#4
Lucy Meyer, Bazak Sharon, Tina C Huang, Abby C Meyer, Kristin E Gravel, Lisa A Schimmenti, Elizabeth C Swanson, Hannah E Herd, Nelmary Hernandez-Alvarado, Kirsten R Coverstone, Mark McCann, Mark R Schleiss
PURPOSE: Congenital cytomegalovirus (cCMV) infection is the most common non-genetic cause of sensorineural hearing loss (SNHL). However, accurate diagnosis of cCMV as the etiology of SNHL is problematic beyond the neonatal period. This study therefore examined whether cCMV infection could be identified retrospectively in children presenting with unexplained SNHL to a multidisciplinary diagnostic outpatient otolaryngology clinic at an academic medical center in Minnesota. METHODS: Over a 4-year period, 57 patients with an age range of 3months to 10years with unexplained SNHL were recruited to participate in this study...
June 7, 2017: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/28622370/evaluation-of-the-performance-of-abbott-m2000-and-roche-cobas-ampliprep-cobas-taqman-assays-for-hiv-1-viral-load-determination-using-dried-blood-spots-and-dried-plasma-spots-in-kenya
#5
Clement Zeh, Kenneth Ndiege, Seth Inzaule, Rebecca Achieng, John Williamson, Joy Chih-Wei Chang, Dennis Ellenberger, John Nkengasong
BACKGROUND: Routine HIV viral load testing is not widely accessible in most resource-limited settings, including Kenya. To increase access to viral load testing, alternative sample types like dried blood spots (DBS), which overcome the logistic barriers associated with plasma separation and cold chain shipment need to be considered and evaluated. The current study evaluated matched dried blood spots (DBS) and dried plasma spots (DPS) against plasma using the Abbott M 2000 (Abbott) and Roche Cobas Ampliprep/Cobas TaqMan (CAP/CTM) quantitative viral load assays in western Kenya...
2017: PloS One
https://www.readbyqxmd.com/read/28615118/functional-and-biological-studies-of-%C3%AE-galactosidase-a-variants-with-uncertain-significance-from-newborn-screening-in-taiwan
#6
Hsuan-Chieh Liao, Ting-Rong Hsu, Leslie Young, Chuan-Chi Chiang, Chun-Kai Huang, Hao-Chuan Liu, Dau-Ming Niu, Yann-Jang Chen
Fabry disease is an X-linked disorder resulted from deficiency of α-galactosidase A (GLA) activity. In Taiwan, a total of 792,247 newborns were screened from 2008 to 2014 in two newborn screening centers, and 13 variants of uncertain significance (VOUS) in the GLA gene were identified. To determine whether these variants were pathogenic or not, functional, biochemical, clinical and pedigree analyses were performed. In vitro functional assay was established through site-directed mutagenesis, and four in silico tools were used to predict pathogenesis...
June 8, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28609404/infant-child-rapid-serology-tests-fail-to-reliably-assess-hiv-exposure-among-sick-hospitalized-infants
#7
Anjuli D Wagner, Irene N Njuguna, Ruth Andere, Lisa M Cranmer, Helen M Okinyi, Sarah Benki-Nugent, Bhavna Chohan, Elizabeth Maleche-Obimbo, Dalton C Wamalwa, Grace C John-Stewart
BACKGROUND: The WHO guidelines for infant and child HIV diagnosis recommend the use of maternal serology to determine child exposure status in ages 0-18 months, but suggest that infant serology can reliably be used to determine exposure for those less than 4 months. There is little evidence about the performance of these recommendations among hospitalized sick infants and children. METHODS: Within a clinical trial (NCT02063880) in Kenya, among children ≤18 months, maternal and child rapid serologic HIV tests were performed in tandem...
June 12, 2017: AIDS
https://www.readbyqxmd.com/read/28604503/multi-country-validation-of-samba-a-novel-molecular-point-of-care-test-for-hiv-1-detection-in-resource-limited-setting
#8
Johnson Ondiek, Zikulah Namukaya, Sekesai Mtapuri-Zinyowera, Suna Balkan, Ali Elbireer, Ines Ushiro Lumb, Charles Kiyaga, Neha Goel, Allyson Ritchie, Patience Ncube, Kenneth Omuomu, Kenneth Ndiege, Adeodata Kekitiinwa, Douglas Mangwanya, Mary Glenn Fowler, Lou Nadala, Helen Lee
INTRODUCTION: Early diagnosis of HIV-1 infection and the prompt initiation of antiretroviral therapy are critical to achieving a reduction in the morbidity and mortality of infected infants. The SAMBA HIV-1 Qual Whole Blood Test was developed specifically for early infant diagnosis and prevention of mother-to-child transmission programs implemented at the point-of-care in resource-limited settings. METHODS: We have evaluated the performance of this test run on the SAMBA I semi-automated platform with fresh whole blood specimens collected from 202 adults and 745 infants in Kenya, Uganda, and Zimbabwe...
June 9, 2017: Journal of Acquired Immune Deficiency Syndromes: JAIDS
https://www.readbyqxmd.com/read/28601865/neonatal-vitamin-d-levels-in-relation-to-risk-of-overweight-at-7-years-in-the-danish-d-tect-case-cohort-study
#9
Camilla B Jensen, Marika Lundqvist, Thorkild I A Sørensen, Berit L Heitmann
BACKGROUND: Vitamin D level in pregnancy may be associated with risk of overweight in the offspring later in life. METHODS: In a case-cohort study based on Danish biobanks and registers we examined the association between 25-hydroxy-vitamin D (25(OH)D) level at birth and overweight at 7 years. Cases of overweight (n = 871) were randomly selected among 7-year-old children from the Copenhagen School Health Records Register (CSHRR) with a BMI above the 90th percentile...
June 10, 2017: Obesity Facts
https://www.readbyqxmd.com/read/28599708/quantification-of-metabolites-in-dried-blood-spots-by-direct-infusion-high-resolution-mass-spectrometry
#10
Monique G M de Sain-van der Velden, Maria van der Ham, Johan Gerrits, Hubertus C M T Prinsen, Marcel Willemsen, Mia L Pras-Raves, Judith J Jans, Nanda M Verhoeven-Duif
Diagnosis and treatment of inborn errors of metabolism (IEM) require the analysis of a variety of metabolites. These compounds are usually quantified by targeted platforms. High resolution mass spectrometry (HRMS) has the potential to detect hundreds to thousands of metabolites simultaneously. A chip-based nanoelectrospray source (chip-based nanoESI) enables the direct infusion of biological samples. Major advantages of this system include high sample throughput, no sample carryover, and low sample consumption...
August 1, 2017: Analytica Chimica Acta
https://www.readbyqxmd.com/read/28592548/evaluation-of-the-aptima-hiv-1-quant-dx-assay-for-hiv-1-rna-quantitation-in-different-biological-specimen-types
#11
Christina Yek, Marta Massanella, Tashi Peling, Kristen Lednovich, Sangeetha V Nair, Andrew Worlock, Milenka Vargas, Sara Gianella, Ronald J Ellis, Matthew C Strain, Michael P Busch, C Thomas Nugent, Douglas D Richman
Background The search for a cure for HIV infection has highlighted the need for increasingly sensitive and precise assays to measure viral burden in various tissues and body fluids. We describe the application of a standardized assay for HIV-1 RNA in multiple specimen types.Methods The fully automated Aptima HIV-1 Quant Dx assay (Aptima assay) is FDA-cleared for blood plasma HIV-1 RNA quantitation. In this study, the Aptima assay was applied for the quantitation of HIV RNA in peripheral blood mononuclear cells (PBMC; n=72), seminal plasma (n=20), cerebrospinal fluid (CSF; n=36), dried blood spots (DBS; n=104) and dried plasma spots (DPS; n=104)...
June 7, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/28592009/-clinical-and-gene-mutation-analysis-of-three-children-with-late-onset-glycogen-storage-disease-type-%C3%A2-with-hypertrophic-cardiomyopathy
#12
J H Luo, W J Qiu, D Fang, J Ye, L S Han, H W Zhang, Y G Yu, L L Liang, X F Gu
Objective: To investigate the clinical and laboratory features of three children with late-onset type Ⅱ glycogen storage disease(GSD) who presented with hypertrophic cardiomyopathy and to analyze the effect of five mutations identified on the acid-α-glucosidase (GAA) activity and stability. Method: Three cases of children with muscle weakness were included in this study.GAA activity was analyzed in Dried Blood Spot of the patients.DNA was extracted from peripheral blood in all the patients and their parents and subjected to polymerase chain reaction and directly sequencing of GAA gene...
June 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28587063/a-relative-deficiency-of-lysosomal-acid-lypase-activity-characterizes-non-alcoholic-fatty-liver-disease
#13
Francesco Tovoli, Lucia Napoli, Giulia Negrini, Sergio D'Addato, Giulia Tozzi, Jessica D'Amico, Fabio Piscaglia, Luigi Bolondi
Lysosomal acid lipase (LAL) is a key enzyme in lipid metabolism. Initial reports have suggested a role for a relative acquired LAL deficiency in non-alcoholic fatty liver disease (NAFLD)-however, it is still unclear whether this mechanism is specific for NAFLD. We aimed to determine LAL activity in a cohort of NAFLD subjects and in a control group of hepatitis C virus (HCV)-infected patients, investigating the role of liver cirrhosis. A total of 81 patients with a diagnosis of NAFLD, and 78 matched controls with HCV-related liver disease were enrolled...
May 25, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28586700/injection-into-the-jugular-vein-among-people-who-inject-drugs-in-the-united-kingdom-prevalence-associated-factors-and-harms
#14
Vivian D Hope, Jenny Iversen, Katelyn J Cullen, John V Parry, Lisa Maher, Fortune Nucbe
BACKGROUND: While people who inject drugs (PWID) typically use peripheral veins, some inject into their central veins, including the femoral and jugular veins. Injection into the jugular vein can have serious adverse health consequences, including jugular vein thrombosis, deep neck infections, pneumothorax, endocarditis and sepsis. This study examined the prevalence of, and factors associated with, jugular vein injection among a large sample of PWID in the United Kingdom. METHOD: Unlinked anonymous surveys (2011-14) recruited PWID from agencies providing services to this population...
June 3, 2017: International Journal on Drug Policy
https://www.readbyqxmd.com/read/28583119/surveillance-for-sulfadoxine-pyrimethamine-resistant-malaria-parasites-in-the-lake-and-southern-zones-tanzania-using-pooling-and-next-generation-sequencing
#15
Jeremiah M Ngondi, Deus S Ishengoma, Stephanie M Doctor, Kyaw L Thwai, Corinna Keeler, Sigsbert Mkude, Oresto M Munishi, Ritha A Willilo, Shabbir Lalji, Naomi Kaspar, Chonge Kitojo, Lynn A Paxton, Nicholas J Hathaway, Jeffrey A Bailey, Jonathan J Juliano, Steven R Meshnick, Julie Gutman
BACKGROUND: Malaria in pregnancy (MiP) remains a major public health challenge in areas of high malaria transmission. Intermittent preventive treatment in pregnancy (IPTp) with sulfadoxine-pyrimethamine (SP) is recommended to prevent the adverse consequences of MiP. The effectiveness of SP for IPTp may be reduced in areas where the dhps581 mutation (a key marker of high level SP resistance) is found; this mutation was previously reported to be common in the Tanga Region of northern Tanzania, but there are limited data from other areas...
June 5, 2017: Malaria Journal
https://www.readbyqxmd.com/read/28579020/psychosine-a-marker-of-krabbe-phenotype-and-treatment-effect
#16
M L Escolar, B T Kiely, E Shawgo, X Hong, M H Gelb, J J Orsini, D Matern, M D Poe
Newborn screening (NBS) for Krabbe disease, a rare neurodegenerative disorder caused by deficient galactocerebrosidase (GALC) enzyme activity, has recently been implemented in a number of US states. However, the spectrum of phenotypic manifestations associated with deficient GALC activity complicates the management of screen-positive newborns and underscores the need to identify clinically relevant biomarkers. Earlier studies with a small number of patients identified psychosine, a substrate of the GALC enzyme, as a potential biomarker for Krabbe disease...
May 22, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28576449/evaluation-of-the-cobas-%C3%A2-ampliprep-cobas-%C3%A2-taqman-%C3%A2-hcv-test-v2-0-for-hcv-viral-load-monitoring-using-dried-blood-spot-specimens
#17
Ed G Marins, Keerthi Bodinaidu, Matthew Lin, Alison Deforest
This study evaluated the use of dried blood spot (DBS) for HCV viral load quantification using the COBAS(®) AmpliPrep/COBAS(®) Taqman(®) HCV Quantitative Test v2.0 (CAP/CTM HCV v2), and compared two different procedures for preparation of DBS samples with a Specimen Pre-Extraction (SPEX) reagent (either heated [SPEX with SH] for 10min at 56°C on a thermomixer, or incubated for 1h at room temperature [SPEX at RT]) against the standard plasma input. Whole blood specimens from 48 patients with chronic HCV infection and Whatman(®) 903 Protein Saver Cards were used to prepare 35μL DBS...
May 30, 2017: Journal of Virological Methods
https://www.readbyqxmd.com/read/28572840/low-levels-of-viral-suppression-among-refugees-and-host-nationals-accessing-antiretroviral-therapy-in-a-kenyan-refugee-camp
#18
Joshua B Mendelsohn, Paul Spiegel, Alison Grant, Sathyanarayanan Doraiswamy, Marian Schilperoord, Natasha Larke, John Wagacha Burton, Jully A Okonji, Clement Zeh, Bosco Muhindo, Ibrahim M Mohammed, Irene N Mukui, Njogu Patterson, Egbert Sondorp, David A Ross
BACKGROUND: Refugees and host nationals who accessed antiretroviral therapy (ART) in a remote refugee camp in Kakuma, Kenya (2011-2013) were compared on outcome measures that included viral suppression and adherence to ART. METHODS: This study used a repeated cross-sectional design (Round One and Round Two). All adults (≥18 years) receiving care from the refugee camp clinic and taking antiretroviral therapy (ART) for ≥30 days were invited to participate. Adherence was measured by self-report and monthly pharmacy refills...
2017: Conflict and Health
https://www.readbyqxmd.com/read/28571018/achievements-and-challenges-in-anti-doping-research
#19
Larry D Bowers, Xavier Bigard
The most important element in achieving athlete compliance with anti-doping rules is the certainty of detection. Thus, scientific research plays a mission critical role in achieving clean competition. Many factors contribute to the advances in detection. Incremental advances in the ability to detect prohibited substances and methods, and identification of long-lived metabolites continue to lengthen detection windows. While the athlete biological passport hematological and steroidal modules hold great promise, experience shows that new research is needed to improve the sensitivity and specificity of the approach for current doping techniques...
2017: Medicine and Sport Science
https://www.readbyqxmd.com/read/28559267/a-penicillin-dried-blood-spot-assay-for-use-in-patients-receiving-intramuscular-benzathine-penicillin-g-and-other-penicillin-preparations-to-prevent-rheumatic-fever
#20
Madhu Page-Sharp, Jonathan Coward, Brioni R Moore, Sam Salman, Lewis Marshall, Timothy M E Davis, Kevin T Batty, Laurens Manning
Background: Rheumatic heart disease (RHD) remains an important global health challenge. Benzathine penicillin (BPG) is recommended every 3-4 weeks as secondary prophylaxis to prevent recurrent episodes of acute rheumatic fever and subsequent RHD. Following intramuscular injection, BPG is hydrolysed to penicillin G (benzylpenicillin). However, little is known of the pharmacokinetics (PK) of BPG in paediatric populations at high risk of RHD or the pharmacokinetic-pharmacodynamic relationship between penicillin exposure and clinically relevant outcomes...
May 30, 2017: Antimicrobial Agents and Chemotherapy
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