| Utilization of blood spot testing for metabolic-genetic disorders in Honduras: is it time for newborn screening? | |
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MedLine Citation:
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PMID: 19850562 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Honduran infant mortality (20/1000) has fallen below the Latin American newborn screening target rate (<30/1000). The authors report 2 Honduran maple syrup urine disease cases and a newborn screening pilot study. The first infant, diagnosed by plasma/urine testing in the U.S., prompted this study. Although marked clinical/radiological improvement occurred after treatment, moderate neurodevelopmental delays persist at 5 years. This 1-month, prospective study used blood spot specimens from hospitalized term Honduran neonates shipped overnight to South Carolina for routine newborn screening with electronic result submission to Honduras for follow-up. Of 88 consecutive neonates (mean age: 4.2 days, standard deviation: 4.2 days) tested, 24 (0.6%) of 3837 completed tests were positive. Another infant with maple syrup urine disease, diagnosed after study completion by blood spot testing, later died. The study findings indicate that collaborative blood spot testing aids in the diagnosis of Honduran metabolic-genetic disease. Newborn screening is now needed to diagnose and treat these diseases before morbidity/mortality develops. |
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Authors:
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Jonathan L Slaughter; Lesby Espinoza; Isaac Molinero; Tim C Wood; Carlos Duron; Armando Flores; Robyn Porter; Kathy Tomashitis; Kenton R Holden |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-10-21 |
Journal Detail:
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Title: Journal of child neurology Volume: 25 ISSN: 1708-8283 ISO Abbreviation: J. Child Neurol. Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-03-01 Completed Date: 2010-06-01 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 306-11 Citation Subset: IM |
Affiliation:
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Division of Neonatology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA. Jonathan.Slaughter@cchmc.org |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Blood Chemical Analysis*
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economics,
methods Blood Specimen Collection Fatal Outcome Follow-Up Studies Honduras Humans Infant, Newborn Male Maple Syrup Urine Disease / blood, diagnosis*, therapy Neonatal Screening* / economics, methods Pilot Projects South Carolina Treatment Outcome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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