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https://www.readbyqxmd.com/read/28646478/newborn-screening-for-fabry-disease-in-the-north-west-of-spain
#1
Cristobal Colon, Saida Ortolano, Cristina Melcon-Crespo, Jose V Alvarez, Olalla E Lopez-Suarez, Maria L Couce, José R Fernández-Lorenzo
Fabry disease is an X-linked lysosomal storage disorder caused by the impairment of α-galactosidase A. Enzyme replacement therapy is available to treat patients, who often experience delayed diagnosis. A newborn screening for Fabry disease was performed to study the prevalence of the pathology and to evaluate the possibility to implement the test in systematic screenings. We collected 14,600 dried blood spot samples (7575 males and 7025 females) and carried out a diagnostic study by fluorometric measurement of α-galactosidase A enzymatic activity and GLA gene sequencing...
June 23, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28646438/noctiluca-and-copepods-grazing-on-the-phytoplankton-community-in-a-nutrient-enriched-coastal-environment-along-the-southwest-coast-of-india
#2
N Arunpandi, R Jyothibabu, L Jagadeesan, T R Gireeshkumar, C Karnan, S W A Naqvi
The relative grazing impact of Noctiluca scintillans (hereafter referred only Noctiluca) and copepods (Acrocalanus gracilis, Paracalanus parvus, Acartia danae and Oithona similis) on the phytoplankton community in an upwelling-mudbank environment along the southwest coast India is presented here. This study was carried out during the Pre-Southwest Monsoon (April-May) to the Late Southwest Monsoon (August) period in 2014. During the sampling period, large hydrographical transformation was evident in the study area (off Alappuzha, Southwest coast of India); warmer Pre-Southwest Monsoon water column condition got transformed into cooler and nitrate-rich hypoxic waters during the Southwest Monsoon (June-August) due to intense coastal upwelling...
July 2017: Environmental Monitoring and Assessment
https://www.readbyqxmd.com/read/28646277/standardization-and-prevalence-of-the-booster-phenomenon-evaluation-using-a-two-step-skin-test-with-43%C3%A2-kda-glycoprotein-in-individuals-from-an-endemic-region-of-paracoccidioidomycosis
#3
Ana Paula C Marques, Sandra Maria V L Oliveira, Grazielli R Rezende, Dayane A Melo, Sonia M Fernandes-Fitts, Elenir Rose J C Pontes, Maria da Glória Bonecini-Almeida, Zoilo P Camargo, Rinaldo P Mendes, Anamaria M M Paniago
BACKGROUND: We estimated the occurrence rate of the booster phenomenon by using an intradermal test with 43 kDa glycoprotein in an endemic area of paracoccidioidomycosis in the central-west region of Brazil. METHODS: Individuals who had a negative result on a survey performed by using an intradermal test with 43 kDa glycoprotein in an endemic area of paracoccidioidomycosis underwent a second intradermal test after 10-15 days to determine the presence or absence of the booster phenomenon...
June 23, 2017: Mycopathologia
https://www.readbyqxmd.com/read/28646261/hepatic-arterial-infusion-chemotherapy-for-extensive-liver-metastases-of-breast-cancer-efficacy-safety-and-prognostic-parameters
#4
Mitra Tewes, Michael Wilhelm Peis, Simon Bogner, Jens M Theysohn, Marcus Paul Reinboldt, Martin Schuler, Anja Welt
PURPOSE: Hepatic arterial infusion chemotherapy (HAIC) is an option for patients with liver-predominant metastatic breast cancer (LMBC), when no further systemic treatment is available. But systematic reports are limited. Here we conducted a retrospective analysis of LMBC patients treated at an expert center. METHODS: Individual patient data were retrieved from the clinical data base of the West German Cancer Center. Primary endpoints included hepatic response (RECIST), progression-free survival (PFS), overall survival (OS), and toxicity...
June 23, 2017: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/28645921/the-east-asian-origin-of-the-giant-lobelias
#5
Eric B Knox, Chunjiao Li
PREMISE OF THE STUDY: Rapid radiations are difficult to reconstruct when organismal diversification and biogeographic movement outpace the evolution of genes typically used in phylogenetic analyses. The 125 kb of unique sequence from complete plastid genomes (= plastomes) largely solves the molecular sampling problem, and taxon sampling that triangulates the base of each major subclade largely solves the long-branch attraction problem. This combination of molecular and phylogenetic sampling is used to reconstruct the cosmopolitan radiation of lobeliads, with special focus on the origin of the giant lobelias...
June 2017: American Journal of Botany
https://www.readbyqxmd.com/read/28645623/identification-of-a-coumarin-based-antihistamine-as-an-anti-filoviral-entry-inhibitor
#6
Han Cheng, Adam Schafer, Veronica Soloveva, Dima Gharaibeh, Tara Kenny, Cary Retterer, Rouzbeh Zamani, Sina Bavari, Norton P Peet, Lijun Rong
Filoviruses, consisting of Ebola virus, Marburg virus and Cuevavirus, cause severe hemorrhagic fevers in humans with high mortality rates up to 90%. Currently, there is no approved vaccine or therapy available for the prevention and treatment of filovirus infection in humans. The recent 2013-2015 West African Ebola epidemic underscores the urgency to develop antiviral therapeutics against these infectious diseases. Our previous study showed that GPCR antagonists, particularly histamine receptor antagonists (antihistamines) inhibit Ebola and Marburg virus entry...
June 20, 2017: Antiviral Research
https://www.readbyqxmd.com/read/28645568/predictors-of-successful-telephone-follow-up-in-a-multicenter-study-of-infants-with-severe-bronchiolitis
#7
Vickie Wu, Nora Abo-Sido, Janice A Espinola, Courtney N Tierney, Kathleen T Tedesco, Ashley F Sullivan, Carlos A Camargo
PURPOSE: To identify the characteristics that predict successful telephone follow-up with parents of infants with severe bronchiolitis. METHODS: We analyzed data from a 17-center, prospective cohort study of infants (age <1 year) hospitalized with bronchiolitis during three consecutive fall/winter seasons. Participant contact information and clinical data were collected during the index hospitalization. Parents were called at 6-month intervals (based on the child's age) after discharge to assess respiratory problems...
June 5, 2017: Annals of Epidemiology
https://www.readbyqxmd.com/read/28645372/analysis-of-structure-selective-endonuclease-activities-from-yeast-and-human-extracts
#8
Joao Matos, Stephen C West
The efficient separation of two equal DNA masses to the daughter cells is an essential step in mitosis. This process is dependent upon the removal of any remaining recombination or replication intermediates that link sister chromatids, and a failure to resolve these intermediates leads to genome instability. Similarly, a failure to resolve meiotic recombination intermediates that link homologous chromosomes can cause chromosome nondisjunction and aneuploidy. Cleavage of these potentially toxic replication/recombination intermediates requires the Mus81 endonuclease, which is active upon flaps, forks, and more complex secondary structures in DNA such as Holliday junctions...
2017: Methods in Enzymology
https://www.readbyqxmd.com/read/28645082/local-populations-and-inaccuracies-determining-the-relevant-mitochondrial-haplotype-distributions-for-north-west-european-cats
#9
Monique Wesselink, Stijn Desmyter, Irene Kuiper
Typing of different portions of the feline mitochondrial control region has illustrated pronounced differences in haplotype distributions between cats from the Netherlands and other parts of the world. To gain a better understanding of the haplotype distribution of North West Continental Europe, 605bp of mitochondrial DNA was typed from randomly selected cats from the Netherlands (N=146), Belgium (N=64) and South West Germany (N=128). The genetic differences between these randomly sampled European populations correlate to the geographical distances, with the Dutch and the South West German populations furthest apart and the Belgian population as an intermediate (Fst values 0...
June 4, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28644889/evaluation-of-different-serological-assays-for-early-diagnosis-of-leptospirosis-in-martinique-french-west-indies
#10
Christophe Courdurie, Yohann Le Govic, Pascale Bourhy, Dorothee Alexer, Karine Pailla, Rafaelle Theodose, Raymond Cesaire, Jacques Rosine, Patrick Hochedez, Claude Olive
BACKGROUND: Leptospirosis is a potentially life-threatening but curable zoonosis whose prognosis depends on accurate and timely diagnosis. Because of its non-specific clinical presentation, laboratory testing is essential to confirm the diagnosis. Here, we aimed to assess the performance of two enzyme-linked immunosorbent assays (ELISAs) (ELISA Serion and ELISA-Hb Pasteur) and one immunodot (GenBio) using quantitative PCR (qPCR) as gold standard, instead of the traditional microscopic agglutination test, for the diagnosis of acute leptospirosis in an endemic area...
June 23, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28644590/mutyh-associated-polyposis-the-irish-experience
#11
T P McVeigh, M Duff, C Carroll, R O'Shea, L Bradley, M Farrell, D J Gallagher, C Clabby, A J Green
MUTYH is involved in DNA damage repair. Bi-allelic MUTYH mutations predispose to polyposis and gastrointestinal malignancies, distinct genetically from autosomal dominant familial adenomatous polyposis coli. Two common European MUTYH mutations account for 90% of MUTYH-associated polyposis (MAP). We aimed to examine the incidence of MAP in Ireland. A retrospective cohort study was undertaken. Patients undergoing MUTYH testing from 2003-2016 were identified by searching electronic databases using terms "MUTYH" and "MYH"...
December 12, 2016: Irish Medical Journal
https://www.readbyqxmd.com/read/28644377/an-operational-in-situ-soil-moisture-soil-temperature-monitoring-network-for-west-wales-uk-the-wsmn-network
#12
George P Petropoulos, Jon P McCalmont
This paper describes a soil moisture dataset that has been collecting ground measurements of soil moisture, soil temperature and related parameters for west Wales, United Kingdom. Already acquired in situ data have been archived to the autonomous Wales Soil Moisture Network (WSMN) since its foundation in July 2011. The sites from which measurements are being collected represent a range of conditions typical of the Welsh environment, with climate ranging from oceanic to temperate and a range of the most typical land use/cover types found in Wales...
June 23, 2017: Sensors
https://www.readbyqxmd.com/read/28644348/biomarkers-of-environmental-enteric-dysfunction-among-children-in-rural-bangladesh
#13
Rebecca K Campbell, Kerry J Schulze, Saijuddin Shaikh, Sucheta Mehra, Hasmot Ali, Lee Wu, Rubhana Raqib, Sarah Baker, Alain Labrique, Keith P West, Parul Christian
OBJECTIVES: Environmental enteric dysfunction (EED) may inhibit growth and development in low- and middle-income countries, but available assessment methodologies limit its study. In rural Bangladesh, we measured EED using the widely used lactulose mannitol ratio (L:M) test and a panel of intestinal and systemic health biomarkers to evaluate convergence among biomarkers and describe risk factors for EED. METHODS: In 539 18-month-old children finishing participation in a randomized food supplementation trial, serum, stool, and urine collected after lactulose and mannitol dosing were analyzed for biomarkers of intestinal absorption, inflammation, permeability and repair, and systemic inflammation...
July 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28644039/parkinson-s-disease-biomarkers-perspective-from-the-ninds-parkinson-s-disease-biomarkers-program
#14
Katrina Gwinn, Karen K David, Christine Swanson-Fischer, Roger Albin, Coryse St Hillaire-Clarke, Beth-Anne Sieber, Codrin Lungu, F DuBois Bowman, Roy N Alcalay, Debra Babcock, Ted M Dawson, Richard B Dewey, Tatiana Foroud, Dwight German, Xuemei Huang, Vlad Petyuk, Judith A Potashkin, Rachel Saunders-Pullman, Margaret Sutherland, David R Walt, Andrew B West, Jing Zhang, Alice Chen-Plotkin, Clemens R Scherzer, David E Vaillancourt, Liana S Rosenthal
Biomarkers for Parkinson's disease (PD) diagnosis, prognostication and clinical trial cohort selection are an urgent need. While many promising markers have been discovered through the National Institute of Neurological Disorders and Stroke Parkinson's Disease Biomarker Program (PDBP) and other mechanisms, no single PD marker or set of markers are ready for clinical use. Here we discuss the current state of biomarker discovery for platforms relevant to PDBP. We discuss the role of the PDBP in PD biomarker identification and present guidelines to facilitate their development...
June 23, 2017: Biomarkers in Medicine
https://www.readbyqxmd.com/read/28643915/preface-to-coast-2016-innovators-workshop-on-personalized-and-precision-orthodontic-therapy
#15
J C Nickel, D A Covell, S A Frazier-Bowers, S Kapila, S S Huja, L R Iwasaki
OBJECTIVE: A second focused workshop explored how to transfer novel findings into clinical orthodontic practice. SETTING AND SAMPLE POPULATION: Participants met in West Palm Beach (Florida, USA), on 9-11 September 2016 for the Consortium for Orthodontic Advances in Science and Technology 2016 Innovators' Workshop (COAST). Approximately 65 registered attendees considered and discussed information from 27 to 34 speakers, 8 to 15 poster presenters and four lunch-hour focus group leaders...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28643866/strategic-communication-related-to-academic-performance-evidence-from-china
#16
Li Zhao, Lulu Chen, Luwei He, Gail D Heyman
We examined a range of forms of strategic communication relevant to academic performance among 151 seventh- and eleventh-grade adolescents in China. Participants were asked to rate the frequency of their engagement of strategic communication and to evaluate the possible motives for each strategy. The most commonly adopted strategy was to give a vague response about one's own performance, and the predominant motives for strategic communication were the desires to outcompete others, to be prosocial, and to be modest...
June 23, 2017: British Journal of Developmental Psychology
https://www.readbyqxmd.com/read/28643801/january-2016-extensive-summer-melt-in-west-antarctica-favoured-by-strong-el-ni%C3%A3-o
#17
Julien P Nicolas, Andrew M Vogelmann, Ryan C Scott, Aaron B Wilson, Maria P Cadeddu, David H Bromwich, Johannes Verlinde, Dan Lubin, Lynn M Russell, Colin Jenkinson, Heath H Powers, Maciej Ryczek, Gregory Stone, Jonathan D Wille
Over the past two decades the primary driver of mass loss from the West Antarctic Ice Sheet (WAIS) has been warm ocean water underneath coastal ice shelves, not a warmer atmosphere. Yet, surface melt occurs sporadically over low-lying areas of the WAIS and is not fully understood. Here we report on an episode of extensive and prolonged surface melting observed in the Ross Sea sector of the WAIS in January 2016. A comprehensive cloud and radiation experiment at the WAIS ice divide, downwind of the melt region, provided detailed insight into the physical processes at play during the event...
June 15, 2017: Nature Communications
https://www.readbyqxmd.com/read/28643754/awareness-of-cervical-cancer-and-willingness-to-participate-in-screening-program-public-health-policy-implications
#18
Somdatta Patra, Madhu Upadhyay, Pragti Chhabra
BACKGROUND: Cervical cancer is one of the most common malignancies among women in India. There is a high mortality as patients usually present at an advanced stage because of lack of awareness and nonexistent screening programs. AIM: This study was planned to find out awareness about cervical cancer among women and their willingness to utilize screening services in an urban resettlement colony of Delhi, India. SETTINGS AND DESIGN: A community-based, cross-sectional study was carried out in a resettlement colony of North-West Delhi...
April 2017: Journal of Cancer Research and Therapeutics
https://www.readbyqxmd.com/read/28643716/prevalence-of-ocular-morbidity-in-school-going-children-in-west-uttar-pradesh
#19
Veer Singh, K P S Malik, V K Malik, Kirti Jain
AIM OF THE STUDY: This study aims to evaluate the prevalence and to make a comparison between the ocular morbidity pattern in school going children of urban and rural areas of West Uttar Pradesh. MATERIALS AND METHODS: A school-based cross-sectional study design was adopted to examine children aged 5-15 years in randomly selected urban and rural schools of West Uttar Pradesh from June 2012 to August 2014. An optometrist did the vision and refraction, and a detailed ophthalmic examination was done by an ophthalmologist...
June 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28643631/the-anopheles-gambiae-2la-chromosome-inversion-is-associated-with-susceptibility-to-plasmodium-falciparum-in-africa
#20
Michelle M Riehle, Tullu Bukhari, Awa Gneme, Wamdaogo M Guelbeogo, Boubacar Coulibaly, Abdrahamane Fofana, Adrien Pain, Emmanuel Bischoff, Francois Renaud, Abdoul H Beavogui, Sekou F Traore, N'Fale Sagnon, Kenneth D Vernick
Chromosome inversions suppress genetic recombination and establish co-adapted gene complexes, or supergenes. The 2La inversion is a widespread polymorphism in the Anopheles gambiae species complex, the major African mosquito vectors of human malaria. Here we show that alleles of the 2La inversion are associated with natural malaria infection levels in wild-captured vectors from West and East Africa. Mosquitoes carrying the more-susceptible allele (2L+(a)) are also behaviorally less likely to be found inside houses...
June 23, 2017: ELife
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