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Anévrisme sous-clavier associé à un syndrome de Turner

Autor: B Esteva, I Tillous-Borde, M Lacombe, G Lesèche

Publikováno v: Archives de Pédiatrie. 11:344-346

Resume Les anevrismes arteriels peripheriques associes au syndrome de Turner sont rares. Observation. – Nous rapportons un cas d’anevrisme sous-clavier chez une jeune fille de 16 ans porteuse d’un syndrome de Turner. Le traitement chirurgical a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e6ab094f0afb2a39da4b08f31c7dbc2a
https://doi.org/10.1016/j.arcped.2004.01.014

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[Aneurism of the subclavian artery associated with Turner's syndrome]

Autor: M, Lacombe, B, Esteva, I, Tillous-Borde, G, Lesèche

Publikováno v: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 11(4)

Arterial aneurysms associated with Turner's syndrome are rare.We report a case of aneurysm of the left subclavian artery in a 16-year-old girl with Turner's syndrome. This patient was operated on: resection of the aneurysm, suture of the aortic arch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::adc6d242f41495104564d60c182c8d5d
https://pubmed.ncbi.nlm.nih.gov/15051094

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Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency

Autor: C. Jaillard, B Esteva, Martine Begeot, Danielle Naville, Philippe Durand, F Despert, J.M. Saez, L. Barjhoux, D Faury

Publikováno v: Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 1996, 81 (4), pp.1442-1448

The hereditary syndrome of unresponsiveness to ACTH is a rare autosomal recessive disorder characterized by low levels of serum cortisol and high levels of plasma ACTH. There is no cortisol response to exogenous ACTH. Recent cloning of the human ACTH

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ac8d32019d3560cfa0997483a3823af
https://pubmed.ncbi.nlm.nih.gov/8636348

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[Mutations of ACTH receptor gene and familial syndrome of glucocorticoid deficiency]

Autor: D, Naville, L, Barjhoux, C, Jaillard, D, Faury, F, Despert, B, Esteva, P, Durand, J, Saez, M, Begeot

Publikováno v: Annales d'endocrinologie. 57(2)

Familial isolated glucocorticoid deficiency syndrome is characterized by low cortisol plasma levels despite high ACTH levels without any stimulation of steroid production after ACTH administration. However, the mineralocorticoid function is well-pres

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5b9cb8ae2ebeb8239df6a36cdc200a17
https://pubmed.ncbi.nlm.nih.gov/8881288

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A novel genetic thrombocytopenia (Paris-Trousseau) associated with platelet inclusions, dysmegakaryopoiesis and chromosome deletion AT 11q23

Autor: R, Favier, L, Douay, B, Esteva, M F, Portnoi, P, Gaulard, T, Lecompte, C, Perot, M, Adam, C, Lecrubier, J, Van den Akker

Publikováno v: Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie. 316(7)

We report a novel case of hereditary thrombocytopenia. A chronic thrombocytopenia was noted in a woman with mild hemorrhagic complications as well as in her very young son. A platelet fraction contained giant granules stained in red on blood smears.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4743d977c79dcc31c07697299085b49b
https://pubmed.ncbi.nlm.nih.gov/8019893

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