Search results for "MESH: Family"
showing 3 items of 3 documents
Concerning mistreatment of older people: clinical and ethical thoughts based on a study of known cases.
2006
International audience; Following a report by the Health Ministry recommending a greater implication of general practitioners (GP) in the diagnosis and care of mistreated older people, we wanted to evaluate what was actually their role in this matter. A study was made of files of mistreated older persons referred to the social services in a Parisian suburb. For each file, we noted who raised the first suspicions of mistreatment, who diagnosed it, what happened next, and what precisely the GP's role was. Out of 600 files, we found 12 cases, concerning 14 persons (two couples). Although all the patients had health problems requiring frequent consultations with their GP, none of these situatio…
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression
2010
Contains fulltext : 87760_1.pdf (author's version ) (Open Access) Contains fulltext : 87760_2.pdf (Publisher’s version ) (Closed access) Eleven affected members of a large German-American family segregating recessively inherited, congenital, non-syndromic sensorineural hearing loss (SNHL) were found to be homozygous for the common 35delG mutation of GJB2, the gene encoding the gap junction protein Connexin 26. Surprisingly, four additional family members with bilateral profound SNHL carried only a single 35delG mutation. Previously, we demonstrated reduced expression of both GJB2 and GJB6 mRNA from the allele carried in trans with that bearing the 35delG mutation in these four persons. Usin…
Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort study.
2013
International audience; Multiple endocrine neoplasia syndrome type 1 (MEN1), which is secondary to mutation of the MEN1 gene, is a rare autosomal-dominant disease that predisposes mutation carriers to endocrine tumors. Although genotype-phenotype studies have so far failed to identify any statistical correlations, some families harbor recurrent tumor patterns. The function of MENIN is unclear, but has been described through the discovery of its interacting partners. Mutations in the interacting domains of MENIN functional partners have been shown to directly alter its regulation abilities. We report on a cohort of MEN1 patients from the Groupe d'étude des Tumeurs Endocrines. Patients with a…