0000000000327411

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R Modica

Patogenesi dell’endometriosi: aspetti cellulari e molecolari

L'endometriosi è una malattia ginecologica benigna che interessa il 10-15% delle donne in età fertile. Nonostante l'elevata prevalenza e l'importanza sociale della malattia, l'eziopatogenesi dell'endometriosi non è ad oggi completamente nota. L'ipotesi della mestruazione retrograda proposta da Sampson è quella maggiormente accettata, tuttavia la discrepanza tra il frequente reperimento di cellule endometriali refluite in cavità peritoneale e l'effettiva prevalenza di endometriosi sintomatica, suggerisce il coinvolgimento di uno o più fattori predisponenti nella patogenesi nella patogenesi della malattia.

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IPOVITAMINOSI D ED EFFETTI BENEFICI DELLA TERAPIA SOSTITUTIVA CON GH SUI LIVELLI DI VITAMINA D IN BAMBINI AFFETTI DA DEFICIT DI GH

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Molecular characterization of cancer stem cells in anaplastic thyroid carcinoma

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Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy (APECED) in Sicily: confirmation that R203X is the peculiar AIRE gene mutation.

Background: Autoimmune polyendocrinopathycandidiasis-ectodermal-dystrophy (APECED), also known as autoimmune polyendocrine syndrome type 1 (APS-1) (OMIM 240300), is a very rare disease. Accepted criteria for diagnosis require the presence of at least 2 of 3 major clinical features: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CH), and Addison's disease (AD). Aim: We analyzed AIRE gene mutations and genotype-phenotype correlation in APECED patients originating from Sicily and in their relatives. Subjects and methods: In 4 patients, clinical evaluations, genetic analysis of AIRE, and APECED-related autoantibodies were performed. Results: Two patients carried the mutati…

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LONG-TERM METABOLIC EFFECTS OF GH THERAPY IN CHILDREN WITH IDIOPATHIC GH DEFICIENCY

Background Increased insulin levels during GH replacement therapy are often reported both in adults and in children with GH deficiency (GHD), although discordant data fully describe the behavior of metabolic parameters during GH therapy in children and overall the majority of published data are limited to the first 12 months of follow-up and in small populations. Aim To evaluate the long-term metabolic influences of GH replacement in a large selected cohort of prepubertal children with idiopathic GHD during GH therapy. Subjects and Methods Data of 194 prepubertal GHD children (150 M, 44 F; age 10.85 ± 2.77 yrs) were analyzed. Before GH therapy and yearly up to 36 months we measured body mas…

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