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616.899.3-056.7-071 (1) |
Psihiatrie. Psihiatrie patologică. Psihopathologie. Frenopatii. Psihoze. Anomalii mintale. Stări morbide mintale. Tulburări de comportament şi emoţionale (290) |
SM ISO690:2012 PALADI, Elena, SPRINCEAN, Mariana, CĂLCÎI, Cornelia. Manifestări clinice în scleroza tuberoasă. In: Sănătate Publică, Economie şi Management în Medicină , 2016, nr. 2(66), pp. 182-184. ISSN 1729-8687. |
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Sănătate Publică, Economie şi Management în Medicină | ||||||
Numărul 2(66) / 2016 / ISSN 1729-8687 /ISSNe 2587-3873 | ||||||
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CZU: 616.899.3-056.7-071 | ||||||
Pag. 182-184 | ||||||
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Tuberous Sclerosis (Bourneville’s disease) is a genetic disorder with multisystemic lesions and autosomal dominant transmission. It’s caused by mutations in one of two genes: TSC1 (encoding protein hamartin gene) and TSC2 (encoding protein tuberin gene). It causes the growth of benign tumors in the brain and other vital organs such as the kidney, heart, lungs, eyes and skin. In this article, we reported a case of 10-eyers-old female, with clinical examination revealed features of Tuberous sclerosis like cutaneus manifestations (fi bromatous nodule, hypopigmented macules, shagreen patch), epilepsy and mental retardations. |
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Cuvinte-cheie Tuberous sclerosis, epilepsy, facial angiofibromas, mental retardations |
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<?xml version='1.0' encoding='utf-8'?> <oai_dc:dc xmlns:dc='http://purl.org/dc/elements/1.1/' xmlns:oai_dc='http://www.openarchives.org/OAI/2.0/oai_dc/' xmlns:xsi='http://www.w3.org/2001/XMLSchema-instance' xsi:schemaLocation='http://www.openarchives.org/OAI/2.0/oai_dc/ http://www.openarchives.org/OAI/2.0/oai_dc.xsd'> <dc:creator>Paladi, E.I.</dc:creator> <dc:creator>Sprincean, M.L.</dc:creator> <dc:creator>Călcîi, C.</dc:creator> <dc:date>2016-04-30</dc:date> <dc:description xml:lang='en'><p><em>Tuberous Sclerosis (Bourneville’s disease) is a genetic disorder with multisystemic lesions and autosomal dominant transmission. It’s caused by mutations in one of two genes: TSC1 (encoding protein hamartin gene) and TSC2 (encoding protein tuberin gene). It causes the growth of benign tumors in the brain and other vital organs such as the kidney, heart, lungs, eyes and skin. In this article, we reported a case of 10-eyers-old female, with clinical examination revealed features of Tuberous sclerosis like cutaneus manifestations (fi bromatous nodule, hypopigmented macules, shagreen patch), epilepsy and mental retardations.</em></p></dc:description> <dc:description xml:lang='ru'><p><em>Туберозный склероз (болезнь Бурневилля) является генетическим заболеванием с тяжелым и многосистемным поражением и аутосомнодоминантным типом наследования, вызванным мутациями одного из генов </em><em>TSC</em><em>1 (генов кодирующих белок гамартина) и </em><em>TSC</em><em>2 (ген кодирующий белок туберин), что приводит к доброкачественному росту опухоли в головном мозге и других жизненно важных органов, таких как почки, сердце, легкие, глаз</em><em>a</em><em> и кож</em><em>a</em><em>. В данной статье мы представляем случай пациентки, в возрасте 10 лет, показывая клинические признаки, характерные для туберозного склероза, такие как: кожные проявления (фиброзные узелки, участки шагреневой кожи), эпилепсия и умственная отсталость.</em></p></dc:description> <dc:source>Sănătate Publică, Economie şi Management în Medicină 66 (2) 182-184</dc:source> <dc:subject>Tuberous sclerosis</dc:subject> <dc:subject>facial angiofibromas</dc:subject> <dc:subject>epilepsy</dc:subject> <dc:subject>mental retardations</dc:subject> <dc:title>Manifestări clinice în scleroza tuberoasă</dc:title> <dc:type>info:eu-repo/semantics/article</dc:type> </oai_dc:dc>