15 research outputs found

    Molecular and cellular mechanisms underlying the evolution of form and function in the amniote jaw.

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    The amniote jaw complex is a remarkable amalgamation of derivatives from distinct embryonic cell lineages. During development, the cells in these lineages experience concerted movements, migrations, and signaling interactions that take them from their initial origins to their final destinations and imbue their derivatives with aspects of form including their axial orientation, anatomical identity, size, and shape. Perturbations along the way can produce defects and disease, but also generate the variation necessary for jaw evolution and adaptation. We focus on molecular and cellular mechanisms that regulate form in the amniote jaw complex, and that enable structural and functional integration. Special emphasis is placed on the role of cranial neural crest mesenchyme (NCM) during the species-specific patterning of bone, cartilage, tendon, muscle, and other jaw tissues. We also address the effects of biomechanical forces during jaw development and discuss ways in which certain molecular and cellular responses add adaptive and evolutionary plasticity to jaw morphology. Overall, we highlight how variation in molecular and cellular programs can promote the phenomenal diversity and functional morphology achieved during amniote jaw evolution or lead to the range of jaw defects and disease that affect the human condition

    Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts

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    Adaptation of the Quality of Life Adolescent Cleft Questionnaire for Spanish children and adolescents with cleft lip and/or palate

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    Background: The Quality of Life Adolescent Cleft Questionnaire is a measure of quality of life in cleft lip/palate (CL/P) including items on pre- treatment and post- treatment status. Items, however, were originally organized in a factor structure that prevents a formal pre- treatment to post- treatment comparison. Additionally, the questionnaire was tested in older patients.Aim: We aimed to explore a factor structure that allows a comparison of pre- to post- treatment status in children and adolescents with CL/P.Design: The sample comprised 60 children and adolescents with CL/P. The scale was divided into two groups of items (24 comparing pre- treatment and post- treatment sta-tus and 26 measuring current quality of life). Two different exploratory and confirm-atory analyses were conducted (one for each group of items). Sources of criterion validity were investigated with measures of self- esteem and self- efficacy.Results: The results supported a 6- factor structure for the pre- treatment and post- treatment items. In the second group of items, 9 items were removed due to inad-equate functioning and a final 4- factor solution was obtained. The criterion validity of factors was good.Conclusion: The proposed factor solution might be more useful to detect the per-ceived satisfaction in different areas and can be used in younger patients
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