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1.
Am J Med Genet A ; 149A(3): 364-71, 2009 Mar.
Article de Anglais | MEDLINE | ID: mdl-19215049

RÉSUMÉ

Genetics and mental health professionals increasingly provide education and counseling related to risk for psychiatric illness, but there is insufficient evidence about patient perceptions and needs to guide such interventions. Affected individuals and relatives may perceive increased family risk and have interest in genetic education and counseling. Our objectives were to explore perceptions of family vulnerability, perceived control, and coping strategies related to familial risk and needs from genetic counseling. Our methods included conducting semi-structured interviews (n = 48) with individuals with bipolar disorder (BPD) and unaffected siblings. Content analysis generated descriptive data that provide guidance for clinical interventions and themes to evaluate in future studies. The results showed that participants perceived increased personal and family risk, attributing BPD to genes and family environment. Causal attributions were often uncertain and at times inconsistent. Participants wished to modify psychiatric risk to relatives, but were uncertain how to do so; despite the uncertainty, most parents reported risk-modification efforts. Efforts to cope with family vulnerability included monitoring and cognitive distancing. Participants endorsed the usefulness of education and psychological support, but described more ambivalence about receiving risk assessment. Educational and supportive interventions around family risk for BPD should focus on perceptions of cause and vulnerability, reproductive decision-making, and early intervention and risk modification in young relatives. Psychological support is an important component. Providers should evaluate patient coping strategies, which could facilitate or hinder genetic counseling interventions, and should not assume interest in quantitative risk assessment.


Sujet(s)
Trouble bipolaire/génétique , Famille/psychologie , Conseil génétique/psychologie , Éducation du patient comme sujet , Appréciation des risques , Fratrie/psychologie , Adulte , Trouble bipolaire/psychologie , Humains , Entretiens comme sujet
2.
Proc Natl Acad Sci U S A ; 98(4): 1665-70, 2001 Feb 13.
Article de Anglais | MEDLINE | ID: mdl-11172008

RÉSUMÉ

Gnathostome vertebrates have multiple members of the Dlx family of transcription factors that are expressed during the development of several tissues considered to be vertebrate synapomorphies, including the forebrain, cranial neural crest, placodes, and pharyngeal arches. The Dlx gene family thus presents an ideal system in which to examine the relationship between gene duplication and morphological innovation during vertebrate evolution. Toward this end, we have cloned Dlx genes from the lamprey Petromyzon marinus, an agnathan vertebrate that occupies a critical phylogenetic position between cephalochordates and gnathostomes. We have identified four Dlx genes in P. marinus, whose orthology with gnathostome Dlx genes provides a model for how this gene family evolved in the vertebrate lineage. Differential expression of these lamprey Dlx genes in the forebrain, cranial neural crest, pharyngeal arches, and sensory placodes of lamprey embryos provides insight into the developmental evolution of these structures as well as a model of regulatory evolution after Dlx gene duplication events.


Sujet(s)
Évolution moléculaire , Protéines à homéodomaine/génétique , Lamproies/génétique , Facteurs de transcription/génétique , Séquence d'acides aminés , Animaux , Séquence nucléotidique , ADN complémentaire , Embryon non mammalien , Expression des gènes , Lamproies/classification , Lamproies/embryologie , Souris , Données de séquences moléculaires , Phylogenèse , Vertébrés/classification , Vertébrés/génétique
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