Background: Ankyloblepharon, ectodermal defects, and cleft lip and palate (AEC) syndrome is a rare autosomal dominant disorder caused by mutations in the sterile α motif region of TP63, a homologue of the tumor suppr...Background: Ankyloblepharon, ectodermal defects, and cleft lip and palate (AEC) syndrome is a rare autosomal dominant disorder caused by mutations in the sterile α motif region of TP63, a homologue of the tumor suppressor TP53. Recent structure-function studies have identified complexities in the genotype-phenotype correlation of the p63 syndromes. Observations: We report 2 sporadic cases of AEC syndrome in infants. Both patients demonstrated skin erosions with prominent scalp involvement. Histologic studies demonstrated mild basal layer vacuolization and rare dyskeratotic keratinocytes, with evidence of both acantholysis and cytolysis at the blister edge. Immunohistochemistry using anti-p63 monoclonal antibody demonstrated basal epidermal nuclear staining in both healthy control and patient tissue samples. Ultrastructural studies showed focal disruption of anchoring fibrils near the blister edge of one patient and normal desmosomes,hemidesmosomes, and basement membrane zone in the nonblistered skin of the other patient. The DNA analysis of each patient revealed 2 novel missense mutations in the TP63 gene that resulted in L514S and R555P amino acid substitutions within the sterileα motif region of the p63 protein. Conclusions: We report 2 novel TP63 mutations resulting in AEC syndrome. The R555P mutation is the most carboxy terminal of all the reported AEC missense mutations of p63. The presence of skin fragility, manifested as erosive skin lesions in body areas in addition to the scalp, is postulated to be an important diagnostic feature of AEC syndrome.展开更多
The creative talents are of constructive significance to the development of the country. Starting from the early exploration and the scientific definition of the creativity of the talents, this article summarizes the ...The creative talents are of constructive significance to the development of the country. Starting from the early exploration and the scientific definition of the creativity of the talents, this article summarizes the research achievements of the creativity of talents in China from three aspects of the determination of the nature and the research of the structural model, the research of the relationship between creativity and other factors, and the development and research of the cross cultural creativity. And from the perspective of the theory and the practice, the author puts forward the ways to cultivate the creativity of the talents from the five dimensions of optimizing the development of the brain functions, improving the abilities of the thinking, judgment and control, debugging the emotional stability and the creative personality, striving to improve the teachers＇ creativity, and drawing lessons from the practical experience of training innovative talents in western countries.展开更多
文摘Background: Ankyloblepharon, ectodermal defects, and cleft lip and palate (AEC) syndrome is a rare autosomal dominant disorder caused by mutations in the sterile α motif region of TP63, a homologue of the tumor suppressor TP53. Recent structure-function studies have identified complexities in the genotype-phenotype correlation of the p63 syndromes. Observations: We report 2 sporadic cases of AEC syndrome in infants. Both patients demonstrated skin erosions with prominent scalp involvement. Histologic studies demonstrated mild basal layer vacuolization and rare dyskeratotic keratinocytes, with evidence of both acantholysis and cytolysis at the blister edge. Immunohistochemistry using anti-p63 monoclonal antibody demonstrated basal epidermal nuclear staining in both healthy control and patient tissue samples. Ultrastructural studies showed focal disruption of anchoring fibrils near the blister edge of one patient and normal desmosomes,hemidesmosomes, and basement membrane zone in the nonblistered skin of the other patient. The DNA analysis of each patient revealed 2 novel missense mutations in the TP63 gene that resulted in L514S and R555P amino acid substitutions within the sterileα motif region of the p63 protein. Conclusions: We report 2 novel TP63 mutations resulting in AEC syndrome. The R555P mutation is the most carboxy terminal of all the reported AEC missense mutations of p63. The presence of skin fragility, manifested as erosive skin lesions in body areas in addition to the scalp, is postulated to be an important diagnostic feature of AEC syndrome.
文摘The creative talents are of constructive significance to the development of the country. Starting from the early exploration and the scientific definition of the creativity of the talents, this article summarizes the research achievements of the creativity of talents in China from three aspects of the determination of the nature and the research of the structural model, the research of the relationship between creativity and other factors, and the development and research of the cross cultural creativity. And from the perspective of the theory and the practice, the author puts forward the ways to cultivate the creativity of the talents from the five dimensions of optimizing the development of the brain functions, improving the abilities of the thinking, judgment and control, debugging the emotional stability and the creative personality, striving to improve the teachers＇ creativity, and drawing lessons from the practical experience of training innovative talents in western countries.
