RESUMO
AIM AND METHOD: We analysed DNA samples isolated from individuals born with cleft lip and cleft palate to identify deletions and duplications of candidate gene loci using array comparative genomic hybridisation (array-CGH). RESULTS: Of 83 syndromic cases analysed we identified one subject with a previously unknown 2.7 Mb deletion at 22q11.21 coinciding with the DiGeorge syndrome region. Eighteen of the syndromic cases had clinical features of Van der Woude syndrome and deletions were identified in five of these, all of which encompassed the interferon regulatory factor 6 (IRF6) gene. In a series of 104 non-syndromic cases we found one subject with a 3.2 Mb deletion at chromosome 6q25.1-25.2 and another with a 2.2 Mb deletion at 10q26.11-26.13. Analyses of parental DNA demonstrated that the two deletion cases at 22q11.21 and 6q25.1-25.2 were de novo, while the deletion of 10q26.11-26.13 was inherited from the mother, who also has a cleft lip. These deletions appear likely to be causally associated with the phenotypes of the subjects. Estrogen receptor 1 (ESR1) and fibroblast growth factor receptor 2 (FGFR2) genes from the 6q25.1-25.2 and 10q26.11-26.13, respectively, were identified as likely causative genes using a gene prioritization software. CONCLUSION: We have shown that array-CGH analysis of DNA samples derived from cleft lip and palate subjects is an efficient and productive method for identifying candidate chromosomal loci and genes, complementing traditional genetic mapping strategies.
Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Sequência de Bases , Criança , Deleção Cromossômica , Mapeamento Cromossômico , Cromossomos Artificiais Bacterianos/genética , Cromossomos Humanos Par 10/genética , Cromossomos Humanos Par 22/genética , Cromossomos Humanos Par 6/genética , DNA/genética , Feminino , Dosagem de Genes , Variação Genética , Humanos , Masculino , Hibridização de Ácido Nucleico , Fenótipo , SíndromeRESUMO
The research indicating the incidence rates and specific risks for suicide in the gay, lesbian, bisexual, and questioning (GLBQ) adolescent population is reviewed. An ecological model of suicide risk assessment for GLBQ youth is presented based on Bronfenbrenner's model of human development. The model argues for individual, micro, and macro levels of assessment to increase clinical judgement and accuracy in determining high risk GLBQ adolescents. The model also delineates both primary and secondary intervention strategies which could be utilized to prevent GLBQ youth suicide.
Assuntos
Sexualidade , Suicídio , Adolescente , Bissexualidade , Feminino , Homossexualidade Feminina , Homossexualidade Masculina , Humanos , Masculino , Medição de Risco , Fatores de Risco , Suicídio/psicologiaAssuntos
Cárie Dentária/epidemiologia , Adolescente , Criança , Estudos Transversais , Índice CPO , Feminino , Fluoretação , Humanos , Masculino , Quebeque , Fatores Socioeconômicos , Dente Decíduo , Escovação DentáriaRESUMO
In this article, the authors survey the evolution of the Pratt & Whitney company's assistance program for their employees. Observing that their employees had problems with alcoholism, the personnel development developed a help program for the alcoholics which in the course of the years has also become a help program to the alcoholic's families. The authors summarize the principal problems treated, the program's mode of operation and make a summary evaluation.
