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https://www.readbyqxmd.com/read/28810813/newborn-thyroid-screening-influence-of-pre-analytic-variables-on-dried-blood-spot-tsh-measurement
#1
Allison M Butler, Wiyada Charoensiriwatana, Piamnukul Krasao, Rotjanapan Pankanjanato, Penpan Thong-Ngao, Randall C Polson, Gregory L Snow, Joel Ehrenkranz
BACKGROUND: Measuring thyroid stimulating hormone (TSH) eluted from a dried blood spot (DBS) is used to screen an estimated 30 million newborns annually for congenital hypothyroidism. Newborn thyroid screening has eliminated cretinism from the industrialized world and decreased the adverse effects of unrecognized congenital hypothyroidism on neurocognitive development. Hematocrit, a pre-analytic variable that affects the measurement of TSH from a DBS, contributes to the imprecision of DBS TSH measurement and could account for false negative and false positive DBS newborn screening test results...
August 16, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28810047/optical-coherence-tomography-angiography-of-retinal-cavernous-hemangioma
#2
Luisa Pierro, Alessandro Marchese, Marco Gagliardi, Francesco Bandello
Retinal cavernous hemangioma is a rare, benign, retinal tumor characterized by angiomatous proliferation of vessels within the inner retina or the optic disc.1 Here we report a case of retinal cavernous hemangioma on the margin of the optic disc in the right eye of a 61-year-old asymptomatic female. The lesion was studied with multimodal imaging which included structural optical coherence tomography, fluorescein angiography, blue fundus auto-fluorescence, optical coherence tomography angiography (OCTA) (DRI OCT Triton; Topcon, Tokyo, Japan) and visual field examination...
August 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/28808181/screening-of-fabry-disease-in-patients-with-end-stage-renal-disease-of-unknown-etiology-the-first-thailand-study
#3
Objoon Trachoo, Paisan Jittorntam, Sarunpong Pibalyart, Saowanee Kajanachumphol, Norasak Suvachittanont, Suthep Patputthipong, Piyatida Chuengsaman, Arkom Nongnuch
We aimed to explore the prevalence of Fabry disease in Thai patients who were diagnosed with end-stage renal disease (ESRD) of an unknown origin. Venous blood samples were collected from ESRD patients for biochemical and molecular studies. Alpha-galactosidase A (α-GAL A) screening was performed from dried-blood spots using fluorometry. Molecular confirmation was performed using DNA sequencing of the GLA gene. A total of 142 male and female patients were included in this study. Ten patients (7.04%) exhibited a significant decrease in α-GAL A activity...
October 17, 2016: Journal of Biomedical Research
https://www.readbyqxmd.com/read/28806566/volumetric-adsorptive-microsampling-liquid-chromatography-tandem-mass-spectrometry-assay-for-the-simultaneous-quantification-of-four-antibiotics-in-human-blood-method-development-validation-and-comparison-with-dried-blood-spot
#4
Sebastiano Barco, Elio Castagnola, Andrea Moscatelli, James Rudge, Gino Tripodi, Giuliana Cangemi
In this paper we show the development and validation of a volumetric absorptive microsampling (VAMS™)-LC-MS/MS method for the simultaneous quantification of four antibiotics: piperacillin-tazobactam, meropenem, linezolid and ceftazidime in 10μL human blood. The novel VAMS-LC-MS/MS method has been compared with a dried blood spot (DBS)-based method in terms of impact of hematocrit (HCT) on accuracy, reproducibility, recovery and matrix effect. Antibiotics were extracted from VAMS and DBS by protein precipitation with methanol after a re-hydration step at 37°C for 10min...
August 2, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28802281/high-concordance-of-pfdhfr-and-pfdhps-genotypes-between-matched-peripheral-and-placental-isolates-of-delivered-women-in-bobo-dioulasso-burkina-faso
#5
Mamoudou Cissé, Gordon A. Awandare, Fabrice A. Somé, Marie-Pierre Hayette, Robert T. Guiguemdé
Whether maternal peripheral parasites constitute a representative sample of the overall population infecting the individual, remains unknown in Burkina Faso. We therefore compared Pfdhfr and Pfdhps genotypes between matched peripheral and placental isolates. PCR-restriction fragment length polymorphism (PCR-RFLP) analysis of polymorphic codons of the Pfdhfr gene (51, 59, 108 and 164) and the Pfdhps gene (437 and 540) was performed in 18 matched peripheral and placental dried blood spots of delivered women in Bobo-Dioulasso...
2017: Annals of Parasitology
https://www.readbyqxmd.com/read/28799825/progress-toward-elimination-of-perinatal-hiv-transmission-in-kenya-analysis-of-early-infant-diagnosis-data
#6
Dunstan Achwoka, Justin Mandala, Mutugi Muriithi, Yanwu Zeng, Mario Chen, Rebecca Dirks, Martin Sirengo, Rose Wafula, Kwasi Torpey
Interrupting vertical transmission of HIV from mothers to infants provides opportunity to transform the HIV/AIDS epidemic by eliminating new infections among children. We estimate mother-to-child transmission rates of infants born to known HIV-positive mothers offered prevention of mother-to-child transmission interventions and provide an indication of Kenya's progress toward elimination of perinatal transmission. We obtained from the Kenya National Early Infant Diagnosis (EID) database, all 131,451 DNA polymerase chain reaction test results of HIV-exposed infants aged 0-18 months who had dried blood spot samples taken between January 2008 and October 2013...
January 1, 2017: International Journal of STD & AIDS
https://www.readbyqxmd.com/read/28797498/interventions-to-enhance-testing-linkage-to-care-and-treatment-uptake-for-hepatitis-c-virus-infection-among-people-who-inject-drugs-a-systematic-review
#7
Sahar Bajis, Gregory J Dore, Behzad Hajarizadeh, Evan B Cunningham, Lisa Maher, Jason Grebely
BACKGROUND: The burden of hepatitis C virus (HCV) infection is escalating among people who inject drugs (PWID), yet testing and treatment remains suboptimal. The aim of this systematic review was to evaluate the effectiveness of interventions to enhance HCV testing, linkage to care, and treatment uptake among PWID. METHODS: A systematic literature search of Medline (Ovid 1946 - present), Embase, Global Health, Cochrane Central Register of Controlled Trials, PsycINFO, Clinical Trials Registry, and Web of Science was conducted covering interventional studies published before 20 July 2016...
August 7, 2017: International Journal on Drug Policy
https://www.readbyqxmd.com/read/28797181/hiv-resistance-with-correlation-to-pmtct-regimen-in-hiv-infected-infants-in-northern-tanzania
#8
Dorothy Elizabeth Dow, Werner Schimana, Balthazar M Nyombi, Blandina T Mmbaga, Aisa M Shayo, John A Bartlett, Charles G Massambu, Emmanuel G Kifaro, Elizabeth L Turner, Todd DeMarco, Fangping Cai, Coleen Cunningham, Ann M Buchanan
Prevention of mother-to-child transmission (PMTCT) guidelines recommend that all HIV-infected pregnant woman receive antiretroviral therapy (Option B) and HIV-infected infants should initiate therapy with a protease inhibitor based regimen; however, implementation of these guidelines has lagged in many resource-limited settings. Tanzania only recently implemented these guidelines with little country specific data to inform whether HIV non-nucleoside reverse transcriptase inhibitor (NNRTI) resistance was present among infected infants under the Option A guidelines...
August 11, 2017: AIDS Research and Human Retroviruses
https://www.readbyqxmd.com/read/28791718/dried-blood-spots-from-finger-prick-facilitate-therapeutic-drug-monitoring-of-adalimumab-and-anti-adalimumab-in-patients-with-inflammatory-diseases
#9
E L Kneepkens, M F Pouw, G J Wolbink, T Schaap, M T Nurmohamed, A de Vries, T Rispens, K Bloem
BACKGROUND: Development of a self-sampling method for therapeutic drug monitoring (TDM) of biologicals will enhance TDM implementation in routine care and pharmacokinetic knowledge. AIM: To compare adalimumab and anti-adalimumab antibody (ADA) concentration measurements in dried blood spots (DBS) obtained from finger prick with measurements in serum obtained via venepuncture, from patients with rheumatic inflammatory diseases. METHODS: In this cross-sectional study, 161 consecutive patients were included...
August 9, 2017: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28789713/vitamin-d-supplementation-and-vitamin-d-status-in-children-of-immigrant-background-in-norway
#10
Ahmed A Madar, Thomas E Gundersen, Anne M Haug, Haakon E Meyer
OBJECTIVE: Sufficient vitamin D status during infancy is important for child health and development. Several initiatives for improving vitamin D status among immigrant children have been implemented in Norway. The present study aimed to evaluate the vitamin D status and its determinants in children of immigrant background in Oslo. DESIGN: Cross-sectional study. SETTING: Child health clinics in Oslo. SUBJECTS: Healthy children with immigrant background (n 102) aged 9-16 months were recruited at the routine one-year check-up from two child health clinics with high proportions of immigrant clients...
August 9, 2017: Public Health Nutrition
https://www.readbyqxmd.com/read/28782931/an-lc-ms-ms-based-method-for-the-quantification-of-pyridox-am-ine-5-phosphate-oxidase-activity-in-dried-blood-spots-from-patients-with-epilepsy
#11
Matthew Peter Wilson, Emma Footitt, Apostolos Papandreou, Mari-Liis Uudelepp, Ronit Pressler, Danielle C Stevenson, Camila Gabriel, Mel Mcsweeney, Matthew Baggot, Derek Burke, Tommy Stödberg, Kate Riney, Manuel Schiff, Simon J R Heales, Kevin Mills, Paul Gissen, Peter T Clayton, Philippa B Mills
We report the development of a rapid, simple and robust LC-MS/MS based enzyme assay using dried blood spots (DBS) for the diagnosis of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency (OMIM 610090). PNPO deficiency leads to potentially fatal early infantile epileptic encephalopathy, severe developmental delay and other features of neurological dysfunction. However, upon prompt treatment with high doses of vitamin B6, affected patients can have a normal developmental outcome. Prognosis of these patients is therefore reliant upon a rapid diagnosis...
August 7, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28777264/feasibility-acceptability-and-adherence-with-short-term-hiv-pre-exposure-prophylaxis-in-female-sexual-partners-of-migrant-miners-in-mozambique
#12
Maria Lahuerta, Allison Zerbe, Rachel Baggaley, Joana Falcao, Laurence Ahoua, Pietro DiMattei, Fernando Morales, Isaias Ramiro, Wafaa M El-Sadr
BACKGROUND: Pre-exposure prophylaxis (PrEP) offers protection from HIV acquisition if taken as prescribed. We evaluated the feasibility, acceptability and adherence with short-term PrEP among female sexual partners of migrant miners in Mozambique. METHODS: HIV-negative female sexual partners of migrant miners were offered daily tenofovir/emtricitabine (TDF/FTC) for 6 weeks concurrent with miners' return home. Study visits occurred at baseline, Week 4, 6 and 8. Dried blood spots (DBS) were collected at Week 4 and 6...
August 1, 2017: Journal of Acquired Immune Deficiency Syndromes: JAIDS
https://www.readbyqxmd.com/read/28774182/annals-express-the-prediction-of-haematocrit-in-dried-blood-spots-from-the-measurement-of-haemoglobin-using-commercially-available-sodium-lauryl-sulphate
#13
Gareth Richardson, David John Marshall, Brian G Keevil
BACKGROUND: When preparing dried blood spots (DBS), the haematocrit (Hct) can affect the ability of the blood to spread through the filter paper, thus resulting in varying quantities of sample being measured when fixed sub- punches of the DBS are taken. It may be important to predict the sample Hct to correct for volume differences. METHODS: Blood (10 µL) was applied to Perkin Elmer 226® paper. The samples (n=165) were allowed to dry for 24 hrs and the entire blood spots were cut out...
January 1, 2017: Annals of Clinical Biochemistry
https://www.readbyqxmd.com/read/28771436/applying-targeted-next-generation-sequencing-to-dried-blood-spot-specimens-from-suspicious-cases-identified-by-tandem-mass-spectrometry-based-newborn-screening
#14
Jicheng Qian, Xiaonan Wang, Jia Liu, Junyuan Zhong, Yanqun Le, Laurent C A Melchior Tellier, Chao Liu, Pingping Jiang, Rui Gao, Yuan Wang
BACKGROUND: Tandem mass spectrometry (TMS)-based newborn screening has been proven successful as one of the public healthcare programs, although the practicability has not yet been specifically addressed. METHODS: Sixty residual dried blood spot (DBS) specimens from confirmation/diagnosis-insufficient cases discovered by TMS screening were analyzed by targeted next generation sequencing (TNGS) assay. RESULTS: In total, 26, 11, 9, and 14 cases were diagnosed as positive, high risk, low risk, and negative, respectively...
August 3, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28763295/contamination-of-dried-blood-spots-an-underestimated-risk-in-newborn-screening
#15
Theresa Winter, Anja Lange, Anke Hannemann, Matthias Nauck, Cornelia Müller
BACKGROUND: Newborn screening (NBS) is an established screening procedure in many countries worldwide, aiming at the early detection of inborn errors of metabolism. For decades, dried blood spots have been the standard specimen for NBS. The procedure of blood collection is well described and standardized and includes many critical pre-analytical steps. We examined the impact of contamination of some anticipated common substances on NBS results obtained from dry spot samples. This possible pre-analytical source of uncertainty has been poorly examined in the past...
August 1, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28755359/four-years-experience-in-the-diagnosis-of-very-long-chain-acyl-coa-dehydrogenase-deficiency-in-infants-detected-in-three-spanish-newborn-screening-centers
#16
B Merinero, P Alcaide, E Martín-Hernández, A Morais, M T García-Silva, P Quijada-Fraile, C Pedrón-Giner, E Dulin, R Yahyaoui, J M Egea, A Belanger-Quintana, J Blasco-Alonso, M L Fernandez Ruano, B Besga, I Ferrer-López, F Leal, M Ugarte, P Ruiz-Sala, B Pérez, C Pérez-Cerdá
Identification of very long-chain acyl-CoA dehydrogenase deficiency is possible in the expanded newborn screening (NBS) due to the increase in tetradecenoylcarnitine (C14:1) and in the C14:1/C2, C14:1/C16, C14:1/C12:1 ratios detected in dried blood spots. Nevertheless, different confirmatory tests must be performed to confirm the final diagnosis. We have revised the NBS results and the results of the confirmatory tests (plasma acylcarnitine profiles, molecular findings, and lymphocytes VLCAD activity) for 36 cases detected in three Spanish NBS centers during 4 years, correlating these with the clinical outcome and treatment...
July 29, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28755192/newborn-screening-for-hereditary-tyrosinemia-type-i-in-qu%C3%A3-bec-update
#17
Yves Giguère, Marie-Thérèse Berthier
Hereditary tyrosinemia type I (HTI) is a rare autosomal recessive disorder caused by a fumarylacetoacetate hydrolase (FAH) deficiency. If untreated, its acute form is characterized by hepatic failure, renal dysfunction and neurological crisis, and may lead to death. Due to a genetic founder effect in the French-Canadian population, the prevalence of HTI is increased in the province of Quebec (1/19 819), with the IVS12 + 5G>A (1062 + 5G>A) splice site mutation responsible for more than 90% of mutated alleles...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28746086/hiv-drug-resistance-in-infants-increases-with-changing-prevention-of-mother-to-child-transmission-regimens
#18
Lisa K Poppe, Catherine Chunda-Liyoka, Eun H Kwon, Clement Gondwe, John T West, Chipepo Kankasa, Clement B Ndongmo, Charles Wood
OBJECTIVES: The objectives of this study were to determine HIV drug resistance (HIVDR) prevalence in Zambian infants upon diagnosis, and to determine how changing prevention of mother-to-child transmission (PMTCT) drug regimens affect drug resistance. DESIGN: Dried blood spot (DBS) samples from infants in the Lusaka District of Zambia, obtained during routine diagnostic screening, were collected during four different years representing three different PMTCT drug treatment regimens...
August 24, 2017: AIDS
https://www.readbyqxmd.com/read/28736296/a-new-targeted-cftr-mutation-panel-based-on-next-generation-sequencing-technology
#19
Marco Lucarelli, Luigi Porcaro, Alice Biffignandi, Lucy Costantino, Valentina Giannone, Luisella Alberti, Sabina Maria Bruno, Carlo Corbetta, Erminio Torresani, Carla Colombo, Manuela Seia
Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis (CF), and it has implications for prognosis and personalized therapy. The large number of mutations and genetic and phenotypic variability make this search a complex task. Herein, we tested the clinical and laboratory validity of an extended search for mutations in CFTR using a next-generation sequencing-based method, with a panel of 188 CFTR mutations customized for the Italian population...
July 19, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28735774/trends-in-hepatitis-c-antibody-prevalence-among-aboriginal-and-torres-strait-islander-people-attending-australian-needle-and-syringe-programs-1996-2015
#20
Simon Graham, Lisa Maher, Handan Wand, Michael Doyle, Jenny Iversen
BACKGROUND: Research indicates that hepatitis C antibody (anti-HCV) prevalence is higher among Australian Aboriginal and Torres Strait Islander (Aboriginal) than non-Aboriginal people who inject drugs (PWID). We examined trends in demographic and drug use characteristics and anti-HCV prevalence among Australian Needle and Syringe Program Survey (ANSPS) respondents by Aboriginal status from 1996 to 2015. METHODS: The ANSPS survey involved collecting demographic, behavioural data and a dried blood spot for anti-HCV testing...
July 20, 2017: International Journal on Drug Policy
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