Search results for "Inherited disease"
showing 4 items of 4 documents
Decayed, missing, and restored teeth in patients with Neurofibromatosis Type 1.
2017
Background NF1 is a relatively frequently occurring autosomal dominant inherited disease. There are conflicting reports about oral health status in NF1. The aim of this study was to analyze the dental status of patients with neurofibromatosis type 1 (NF1). Material and methods Radiographs of 179 patients with NF1 were analyzed for decayed, missing, and filled teeth (DMFT) in a cross-sectional, retrospective study. The results were compared to age- and sex-matched controls of individuals not affected by NF1. The NF1 group was differentiated for facial tumor type and localization. Results Missing teeth were more frequently registered in the NF1 group. On the other hand, decayed teeth were mor…
What are the risk and protective factors for the well-being of adolescents with CF?
2021
La fibrosis quística (FQ) es una enfermedad crónica y hereditaria que compromete la vida de quienes la padecen, y se hace especialmente importante su impacto en la adolescencia. El afrontamiento que estos pacientes y sus familiares hagan de estas circunstancias que les han tocado vivir, puede mejorar o empeorar el curso y desenlace de la enfermedad. El objetivo es conocer los factores de riesgo y protectores que influyen en el bienestar de los adolescentes con FQ. Para ello se realizó una búsqueda bibliográfica de la literatura científica siguiendo la guía PRISMA en las siguientes bases de datos: Web of Science, ProQuest y Scopus. Se incluyeron artículos centrados en factores psicológicos d…
Observatoire francophone des néoplasies endocriniennes multiples de type 1. Un outil du Groupe d'étude des Tumeurs Endocrines (GTE)
2007
Wermer's syndrome or Multiple Endocrine Neoplasia Type-1 (MEN1) is an autosomal dominant inherited disease, related to mutations in MEN1, an approximately 10-kb gene encoding menin, localized on chromosome 11q13. The Endocrine Tumor Group (GTE) has set up a MEN1 observatory of 1001 regularly followed MEN1 cases. This observatory aims at registering and evaluating MEN1 cases in a large cohort. Any new study on a particular unexplored aspect of the disease may be proposed by a physician to the GTE. This article describes the way to diagnose a new MEN1 case and to register it. Procedures for participating in a new study are presented. Some original results are quoted.
Hereditary angio-oedema with normal C1 inhibitor in a family with affected women and men
2005
Recurrent angio-oedema is a sign of various acquired and inherited disease entities, including hereditary angio-oedema types I and II that result from a genetic deficiency of C1 inhibitor, and a recently described type of dominantly inherited angio-oedema, which does not show a deficiency of C1 inhibitor. Until now, this new type of hereditary angio-oedema, designated as hereditary angio-oedema type III, has been assumed to be a disorder specific to females. We now describe a four-generation family with dominantly inherited angio-oedema and normal C1 inhibitor in which, in contrast to all previous observations, not only five female but also three male family members were clinically affected…