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Lopez-Espinosa M.A.-J.,Center for Public Health Research | Lopez-Espinosa M.A.-J.,CIBER ISCIII | Lopez-Espinosa M.A.-J.,University of Granada | Vizcaino E.,CSIC - Institute of Environmental Assessment And Water Research | And 13 more authors.
Journal of Exposure Science and Environmental Epidemiology | Year: 2010

It has been suggested that prenatal exposure to some organochlorine compounds (OCs) may adversely affect thyroid function and may, therefore, impair neurodevelopment. The main aim of this study was to examine the relationship of cord serum levels of 1,1,1-trichloro-2,2-bis(4-chlorophenyl)ethane (4,4′-DDT), 1,1-dichloro-2,2-bis(4-chlorophenyl)ethylene (4,4′-DDE), Β-hexachlorocyclohexane (Β-HCH), hexachlorobenzene (HCB), four individual polychlorobiphenyl (PCB) congeners (118, 138, 153, and 180), and their sum, with neonatal thyroid stimulating hormone (TSH) levels in blood samples in a mother-infant cohort in Valencia, Spain. This study included 453 infants born between 2004 and 2006. We measured OC concentrations in umbilical cord serum and TSH in blood of newborns shortly after birth. Associations between neonatal TSH levels and prenatal OC exposure adjusted for covariates were assessed using multivariate linear regression analyses. Neonatal TSH levels tended to be higher in newborns with Β-HCH levels in umbilical cord above 90th percentile (104 ng/g lipid) than in those with levels below the median (34 ng/g lipid), with an adjusted increment in neonatal TSH levels of 21% (95% confidence interval3, 51; P0.09). No statistically significant association was found between the remaining OCs and TSH at birth. Prenatal exposure to Β-HCH may affect neonatal thyroid hormone status and its function in neurological development. © 2010 Nature America, Inc. All rights reserved. Source

Cornejo V.,University of Chile | Raimann E.,University of Chile | Cabello J.F.,University of Chile | Cabello J.F.,Laboratory of Metabolic Diseases | And 4 more authors.
Journal of Inherited Metabolic Disease | Year: 2010

The history of the Newborn Screening Program in Chile begins in 1984, when a pilot plan was developed that demonstrated the feasibility of its implementation. In 1992, the Ministry of Health started a national newborn screening program for phenylketonuria (PKU) and congenital hypothyroidism (CH), and in 1998, this was extended to the entire country. Throughout this period, a total of 2,478,123 newborns (NB) have been analyzed, obtaining initial coverage of 48.8%, which was later increased to 87.7%, and at present it is at 98.7% of all NB of our country. During this period, 131 cases with PKU have been diagnosed, resulting in an incidence of 1:18,916 NB, an average age of diagnosis of 18±10.2 days and average phenylalanine level of 19,9±8.8 mg/dl. In relation to CH, 783 cases have been confirmed, arriving at an incidence of 1:3,163 NB, with average age of diagnosis of 12.5± 6.9 days. Due to the good results of the program, the government is evaluating the initiation of an extended pilot program, to introduce other pathologies. © SSIEM and Springer 2010. Source

Thonhofer M.,University of Graz | Weber P.,University of Graz | Gonzalez Santana A.,University of British Columbia | Tysoe C.,University of British Columbia | And 8 more authors.
Carbohydrate Research | Year: 2016

From an easily available partially protected analog of 1-deoxy-L-gulo-nojirimycin, by chain-branching at C-4 and suitable modification, lipophilic analogs of the powerful β-D-galactosidase inhibitor 4-epi-isofagomine have been prepared. New compounds exhibit considerably improved inhibitory activities when compared with the unsubstituted parent compound and may serve as leads toward new pharmacological chaperones for GM1-gangliosidosis and Morquio B disease. © 2016 Elsevier Ltd. Source

Thonhofer M.,University of Graz | Weber P.,University of Graz | Santana A.G.,University of British Columbia | Fischer R.,University of Graz | And 7 more authors.
Bioorganic and Medicinal Chemistry Letters | Year: 2016

From an easily available partially protected formal derivative of 1-deoxymannojirimycin, by hydroxymethyl chain-branching and further elaboration, lipophilic analogs of the powerful β-d-galactosidase inhibitor 4-epi-isofagomine have become available. New compounds exhibit improved inhibitory activities comparable to benchmark compound NOEV (N-octyl-epi-valienamine) and may serve as leads towards improved and more selective pharmacological chaperones for GM1-gangliosidosis. © 2016 Elsevier Ltd. All rights reserved. Source

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