A novel mutation in the FOXL2 gene in a Chinese family with blepharophimosis, ptosis, and epicanthus inversus syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To screen mutations in the forkhead transcriptional factor 2 gene (FOXL2) in six Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome(BPES).</p><p><b>METHODS</b>PCR amplification and direct sequencing of the FOXL2 coding region in genomic DNA were performed in affected patients and 80 healthy controls. BLAST analysis of the sequence was made on Internet.</p><p><b>RESULTS</b>A novel 951-953(delC) was found in the two affected patients of a Chinese family with BPES. No mutations were found in the healthy controls. The 951-953(delC) may cause a frameshift mutation after codon 238 that exists downstream of the forkhead domain, resulting in the production of truncated proteins.</p><p><b>CONCLUSION</b>These findings indicated that the 951-953(delC) deletion mutation in the two patients resulted in truncated proteins and hence led to their BPES. To the authors' knowledge, the 951-953(delC) in FOXL2 has not been previously reported.</p>

Use of allogenic acellular dermal matrix combined with autologous epidermal cells for the repair of tissue defect / 中华口腔医学杂志

<p><b>OBJECTIVE</b>To investigate a method for the repair of tissue defect.</p><p><b>METHODS</b>Allogenic acellular dermal matrixes (ADM) were implanted to full-thickness skin defects made on the dorsa of rats. Two weeks later, autologous suspended epidermal cells were transplanted on to the surface of vascularized ADM. Respectively, neoepidermis was macroscopically observed 2, 3, 5 weeks after grafting, and samples were taken to make routine paraffin sections for microscopical examination, and immunohistochemical staining for type IV collagen was also performed.</p><p><b>RESULTS</b>The vascularized ADM could support proliferation and differentiation of epidermal cells, and also could promote the formation of dermal-epidermal junction. Suspended epidermal cells in an artificial culture system in vivo could develop into mature epidermis. The reconstructed skin not only looked like the normal one in appearance in which hair was removed, but also revealed a better function.</p><p><b>CONCLUSIONS</b>Full-thickness skin defect can be repaired by transplanting autologous epidermal cell suspension on to vascularized ADM.</p>

Influence of prostaglandin E2 on proliferation of melanocytes in full-thickness skin graft / 中华整形外科杂志

<p><b>OBJECTIVE</b>To investigate the influence of the prostaglandin E2 on the proliferation of the melanocytes in the full-thickness skin graft.</p><p><b>METHODS</b>Sixty-eight guinea-pigs were divided into experimental-1 group (skin graft), experimental-2 group (skin graft + diclofenac), and control groups. After the full-thickness skin graft, the dynamic changes of the prostaglandin E2 were measured and the proliferation of the melanocyte with its density was also evaluated by using histochemical and autoradiographic methods.</p><p><b>RESULTS</b>In the experimental-1 group, the content of PGE2 was increasing in seven days after the operation, continued to the one month, and then returned to the base level. The labelling indices of 3H-MC-TdR of the group was also increasing postoperatively between the second day and the fourteenth day, and reach a second peak after one month, then came to the normal level. The density of the melanocytes was decreasing rapidly 3 days after the surgery, then began to increase and exceeded over the normal level 21 days after the operation. However, in the experimental-2 group, the content of PGE2 decreased in two days after the surgery, and then showed the inclination similar to the experimental-1 group with the different points in narrower range. The number of melanocytes labelled by 3H-TdR began to increase at the first day after the surgery, which appeared earlier than the experimental-1 group and was similar in the changing tendency with a less extent. The density of MC showed the similar tendency to the experimental-1 group in a narrower changing range with both of increasing and decreasing. The density of the MC was much lower in 21 after the operation than the experimental-1 group and normal control group.</p><p><b>CONCLUSION</b>The increased PGE2 in the earlier stage of the skin grafting could enhance the inflammatory reaction to the tissue, as well as the melanocytes. It may stimulate the proliferation of the MC with the result of increasing their density. The use of the diclofenac might reduce the inflammation and suppress the proliferation of melanocytes, and result in the skin with light color due to decreasing the number of MC in the epidermis of the graft.</p>