Výsledky vyhledávání - "MESH : Down Syndrome"

Phosphorylated tau181 in plasma as a potential biomarker for Alzheimer’s disease in adults with Down syndrome

Publikováno v: Nature Communications
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Nature Communications, Nature Publishing Group, 2021, 12 (1), pp.4304. ⟨10.1038/s41467-021-24319-x⟩
Nature Communications, Vol 12, Iss 1, Pp 1-8 (2021)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona

Plasma tau phosphorylated at threonine 181 (p-tau181) predicts Alzheimer’s disease (AD) pathology with high accuracy in the general population. In this study, we investigated plasma p-tau181 as a biomarker of AD in individuals with Down syndrome (D

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1265af7d15b7294e224b6f8386b92398
https://doi.org/10.1038/s41467-021-24319-x

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Cost and outcomes of the ultrasound screening program for birth defects over time: a population-based study in France

Autor: Jean-Marie Jouannic, Clément Ferrier, Babak Khoshnood, Ferdinand Dhombres, Isabelle Durand-Zaleski, Isabelle Perthus, Hanitra Randrianaivo

Publikováno v: BMJ Open
BMJ Open, 2020, 10 (7), pp.e036566. ⟨10.1136/bmjopen-2019-036566⟩
BMJ Open, Vol 10, Iss 7 (2020)
BMJ Open, BMJ Publishing Group, 2020, 10 (7), pp.e036566. ⟨10.1136/bmjopen-2019-036566⟩

ObjectiveTo assess trends in the average costs and effectiveness of the French ultrasound screening programme for birth defects.DesignA population-based study.SettingNational Public Health Insurance claim database.ParticipantsAll pregnant women in th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5613b4f6a1e80508d1655cf8f99b91a9
https://pubmed.ncbi.nlm.nih.gov/32690745

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Clinical and biomarker changes of Alzheimer's disease in adults with Down syndrome : a cross-sectional study

Publikováno v: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
The Lancet
The Lancet, Elsevier, 2020, 395 (10242), pp.1988-1997. ⟨10.1016/S0140-6736(20)30689-9⟩
LANCET
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Lancet (London, England)

Background: Alzheimer's disease and its complications are the leading cause of death in adults with Down syndrome. Studies have assessed Alzheimer's disease in individuals with Down syndrome, but the natural history of biomarker changes in Down syndr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b6f93f6750e3702901633c6f25c3dc1
https://ddd.uab.cat/record/227832

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Analyse de l'ADN foetal dans le sang maternel comme test de dépistage pour la trisomie 21 chez les grossesses gémellaires

Autor: Le Conte, Grégoire

Publikováno v: Médecine humaine et pathologie. 2018

Objectives: to evaluate the performance of noninvasive prenatal testing by cell-free circulating fetal DNA in maternal blood (cfDNA) in screening for trisomies 21 in twin pregnancies. Methods: cfDNA was performed in 492 patients with twin pregnancies

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2592::e3cc2182dea766e96ac94081b510e658
https://dumas.ccsd.cnrs.fr/dumas-02292929

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Akademický článek

DOWN SYNDROME CLINICAL FEATURES, AND IT'S ASSOCIATED COMPLICATIONS EVALUATION AND MANAGEMENT APPROACH.

Autor: Alshammar, Abdullah Khalaf A.¹ Abdullahalateeq92@gmail.com, Alkattan, Salma Sameer A.², Alsharif, Rahaf Mohammed S.³, Alwahbi, Nawaf Falah J.³, Alhussain, Kawther Ali A.⁴, Alqahtani, Ahmad Mohammed M.⁵, Saeedi, Abdulmajeed Hussain⁶, Alhussain, Mohammed Abdullah M.⁷, Haroobi, Mohammad Hassan⁸, Alshehri, Muath Ali H.⁹, Alotaibi, Renad Sultan⁶

Publikováno v: Pharmacophore. Jul/Aug2021, Vol. 12 Issue 4, p103-106. 4p.

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Paper 2: EUROCAT public health indicators for congenital anomalies in Europe

Autor: Khoshnood, B., Greenlees, R., Loane, M., Dolk, H., EUROCAT Project Management Committee, EUROCAT Working Group, Barišić, Ingeborg

Publikováno v: Birth Defects Research Part A: Clinical and Molecular Teratology
Birth Defects Research Part A: Clinical and Molecular Teratology, Wiley, 2011, 91 Suppl 1, pp.S16-22. ⟨10.1002/bdra.20776⟩
Birth Defects Research Part A: Clinical and Molecular Teratology, 2011, 91 Suppl 1, pp.S16-22. ⟨10.1002/bdra.20776⟩
Birth Defects Research Part A: Clinical and Molecular Teratology, Wiley, 2011, 91 Suppl 1, pp.S16-22. 〈10.1002/bdra.20776〉

OBJECTIVE The purpose of this article is to present the specific public health indicators recently developed by EUROCAT that aim to summarize important aspects of the public health impact of congenital anomalies in a few quantitative measures. METHOD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b83b7fb1d0df270438cb7964ea5a5fe
https://doi.org/10.1002/bdra.20776

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Socioeconomic Barriers to Informed Decisionmaking Regarding Maternal Serum Screening for Down Syndrome: Results of the French National Perinatal Survey of 1998

Autor: Catherine De Vigan, Gérard Bréart, Babak Khoshnood, Béatrice Blondel

Publikováno v: American Journal of Public Health
American Journal of Public Health, 2004, 94 (3), pp.484-91
American Journal of Public Health, American Public Health Association, 2004, 94 (3), pp.484-91

Objectives. We sought to evaluate socioeconomic disparities in serum screening for Down syndrome and assess whether such disparities are more likely to reflect limits in access or information or, rather, informed decisionmaking. Methods. A nationally

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a48ca6a2b0a293df7f20e41a5c84374
https://doi.org/10.2105/ajph.94.3.484

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Human placental development is impaired by abnormal human chorionic gonadotropin signaling in trisomy 21 pregnancies.: hCG signaling is impaired in trisomy 21 pregnancy

Autor: Pidoux, Guillaume, Gerbaud, Pascale, Marpeau, Olivier, Guibourdenche, Jean, Ferreira, Fatima, Badet, Josette, Evain-Brion, Danièle, Frendo, Jean-Louis

Publikováno v: Endocrinology
Endocrinology, Endocrine Society, 2007, 148 (11), pp.5403-13. ⟨10.1210/en.2007-0589⟩
Endocrinology, Endocrine Society, 2007, 148 (11), pp.5403-13. 〈10.1210/en.2007-0589〉
Endocrinology, 2007, 148 (11), pp.5403-13. ⟨10.1210/en.2007-0589⟩

International audience; Placental development is markedly abnormal in women bearing a fetus with trisomy 21, with defective syncytiotrophoblast (ST) formation and function. The ST occurs from cytotrophoblast (CT) fusion and plays an essential role by

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::eb569cb14fad5462be751b285e5f0fdc
https://www.hal.inserm.fr/inserm-00168635/document

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Determination of sensitivity and specificity of a novel gene dosage assay for prenatal screening of trisomy 21 syndrome

Autor: Ahmad Reza Kamyab, Reza Mahdian, Parvin Dibajnia, Fahimeh Shahrokhi, Elmira Shamsian, Mina Hayat Nosaied, Mehrdad Hashemi

Publikováno v: Clinical Biochemistry
Clinical Biochemistry, Elsevier, 2012, 45 (3), pp.267-71. ⟨10.1016/j.clinbiochem.2011.11.013⟩

International audience; OBJECTIVE: To compare the gene dosage results achieved by a novel multiplex quantitative assay with cytogenetic and quantitative fluorescent polymerase chain reaction (QF-PCR) analysis for prenatal screening of trisomy 21 synd

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c23d95ee003edebe60865fee504e8033
https://pubmed.ncbi.nlm.nih.gov/22178108

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Effect of leucovorin (folinic acid) on the developmental quotient of children with Down's syndrome (trisomy 21) and influence of thyroid status

Autor: Aimé Ravel, Veronique de Portzamparc, Martine Conte, Clotilde Mircher, Gwendael Poret, Françoise Huon de Kermadec, Marie-Odile Rethore, Henri Bléhaut, Franck Sturtz

Publikováno v: PLoS ONE
PLoS ONE, Public Library of Science, 2010, 5 (1), pp.e8394. ⟨10.1371/journal.pone.0008394⟩
PLoS ONE, Vol 5, Iss 1, p e8394 (2010)

International audience; BACKGROUND: Seven genes involved in folate metabolism are located on chromosome 21. Previous studies have shown that folate deficiency may contribute to mental retardation in Down's syndrome (DS). METHODOLOGY: We investigated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9aca5f662d011a6bb9a8c184fdf365b8
https://hal-unilim.archives-ouvertes.fr/hal-00629144

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