RESUMO
Congenital generalized hypertrichosis associated with gingival hyperplasia are rare cases published in literature. The frequency incidence of generalized congenital hypertrichosis is about one to billions of people. Hypertrichosis and gingival hyperplasia are termed as Ambras syndrome (AS), which can be noticed at birth or soon after. Here, is a rare case report of 4-year-old male child who presented with generalized hypertrichosis with gingival fibromatosis and dysmorphic facial features.
Assuntos
Fibromatose Gengival/diagnóstico , Hipertricose/congênito , Pré-Escolar , Consanguinidade , Diagnóstico Diferencial , Humanos , Hipertricose/diagnóstico , Masculino , Radiografia PanorâmicaRESUMO
In order to elucidate an involvement of protein phosphatase type 1 (PP1) in the malignant transformation, we have isolated rat cDNA for NIPP-1, a nuclear inhibitor for PP1. Rat NIPP-1 protein conserved the PP1 binding domain and the nuclear targeting sequence. The mRNA was ubiquitously expressed with the highest expression in bone marrow and thymus. The rat NIPP1 mRNA levels were slightly, if at all, increased in some primary hepatomas, and significantly increased in rat ascites hepatomas. The levels of NIPP-1 mRNA were closely correlated with malignant phenotype of rat ascites hepatomas, suggesting that NIPP-1 is tightly linked to malignant phenotype in hepatomas.
Assuntos
Proteínas de Transporte , Regulação Neoplásica da Expressão Gênica , Peptídeos e Proteínas de Sinalização Intracelular , Neoplasias Hepáticas Experimentais/metabolismo , RNA Mensageiro/análise , Proteínas de Ligação a RNA/genética , Sequência de Aminoácidos , Animais , Sequência de Bases , DNA Complementar/isolamento & purificação , Neoplasias Hepáticas Experimentais/patologia , Regeneração Hepática , Masculino , Dados de Sequência Molecular , Ratos , Ratos Wistar , Distribuição TecidualRESUMO
Electronic structure, vibrational frequencies, and ¹H chemical shifts of inclusion complexes between CB[n] (n = 6,7) or their inverted iCB[n] diastereomer hosts and quaternary diammonium viz., 1,6-hexyldiammonium (HDA) or p-xylyldiammonium (XYL) cationic guests are obtained from the density functional calculations. The interaction of CB[n] or iCB[n] with HDA (guest) conduce inclusion complexes in which the guest attains gauche conformation within the host cavity. The lowest energy XYL complexes of CB[6] or iCB[6] are comprised of one ammonium group orienting parallel to aromatic ring. The CB[7] or iCB[7] complexes of XYL on the other hand, reveal ammonium group(s) perpendicular to aromatic ring of the guest. The ureido C=O and N--H stretching vibrations on complexation engender frequency down-shift in the calculated spectra. This can be attributed to C--H-- --O and N--H-- --O interactions in the complex. The inverting of glycouril unit in iCB[n] renders a frequency shift (12 cm⻹) for the C=O stretching in the opposite direction. Molecular electron density topography and natural bond orbital analyses have been used to explain the direction of frequency shifts. Calculated ¹H NMR reveal that guest protons within the host cavity not participating in hydrogen bonding interactions, exhibit shielded signals compared to isolated XYL or HDA. Likewise the inverted protons in the iCB[6]-XYL complex led to up-field signals in calculated ¹H NMR as a result of C-H-- -π interactions.