Yazar "Avendano, Andrea" seçeneğine göre listele

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    Cleidocranialdysplasia. Amolecularandclinicalreview
    (2018) Fortunato, Leonzio; Yavuz, İzzet; Plotino, Gianluca; Avendano, Andrea; Callea, Michele; Grande, Nicola Maria; Rizal, Mochamad Fahlevi
    Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder characterized by skeletal and dental abnormalities primarily, short stature, aplasia or hypoplasia of clavicles, open fontanelles and supernumerary teeth. Heterozygous mutations of the runt-related transcription factor 2 (RUNX2) gene have been found in approximately 60-70% of cases,leaving a large number of cases with no defined genetic cause which ledus to delve into molecular mechanisms underlying CCD and thus to detect potential target genes to be explored in these patients. In this review,we also highlight very broadly the phenotypic characteristics of previously reported patients with CCD.
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    Öğe
    Isotretinoin embryopathy. An entity that can be avoided
    (Soc Argentina Pediatria, 2018) Cammarata-Scalisi, Francisco; Nieves, Dairelis; Avendano, Andrea; Lacruz-Rengel, Maria A.; Alviarez, Karelys; Davila, Francys; Yavuz, Izzet
    Isotretinoin is the most effective drug in the treatment of severe recalcitrant nodulocystic acne. However, treatment with this drug is associated with adverse effects, the most severe being teratogenesis. It has been estimated that 40% of pregnancies exposed to isotretinoin present spontaneous abortion and 35% develop embryopathy. We present the case of a newborn with a history of prenatal exposure to isotretinoin, a clinical entity that can be avoided, with severe congenital defects in the central nervous system and important facial dysmorphisms, with unfavorable clinical course.