A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease characterized by a combination of development anomalies and a predisposition to tumour formation. Mutation of patched gene (PTCH), considered the molecular defect of NBCCS, in a Chinese NBCCS family was investigated in this study.</p><p><b>METHODS</b>Genomic DNA was isolated from blood samples of all 12 members of this family. The mutated PTCH gene was screened by polymerase chain reaction amplification and direct sequencing.</p><p><b>RESULTS</b>A new mutation of 3 bp (GAT deletion) was found in all seven affected members of this family. This mutation caused one aspartate deletion in the fourth transmembrane domain of the PTCH protein located within the sterol sensing domain (SSD). This deletion was not found in any unaffected members of this family nor in 200 control samples.</p><p><b>CONCLUSIONS</b>Our findings suggest that one 3-bp deletion in PTCH gene was the cause of nevoid basal cell carcinoma in a Chinese family through affecting the conformation and function of PTCH protein.</p>

Using the lower medial leg fasciocutaneous flap to repair soft tissue defects at root of tongue / 中华整形外科杂志

<p><b>OBJECTIVE</b>To investigate the clinical value of lower medial leg fasciocutaneous flap for the repair of soft tissue defects at root of tongue.</p><p><b>METHODS</b>4 cases of soft tissue defects at root of tongue were underwent surgery with lower medial leg fasciocutaneous flaps. This paper describes in detail the anatomy of the flap, technique of make up the flap, advantages and disadvantages, and its clinical applications.</p><p><b>RESULTS</b>All the 4 flaps were got successfully one stage repair. A satisfied reconstruction were attained, the transplanted skin grafts on the defect regions of lower medial leg survived without necrosis.</p><p><b>CONCLUSIONS</b>The lower medial leg fasciocutaneous flaps is a good method for the repair of the defect reconstruction at the root of tongue. The soft tissue defects at root of tongue can be used the flap combined with partial soleus. The flaps not only has thin fat and soft quality, but also is far away from the region of head and neck. The donor site is blanket with less damage.</p>

Selection and quantitative detection of target genes in oral squamous cell carcinoma / 中华口腔医学杂志

<p><b>OBJECTIVE</b>To select and identify the target genes related to oral squamous cell carcinoma (OSCC) and provide target genes for designing oligo-nucleotide functional microarray of OSCC.</p><p><b>METHODS</b>Genes possibly related to oral squamous cell carcinoma were selected from the 5 years' published data of differently expressed profiles with microarray testing in OSCC. Then mRNA expression of selected genes were evaluated by real time quantitative polymerase chain reaction (RT-PCR) in 22 cases of OSCC, including tumor tissues and paried normal mucosas and quantified according to an internal control GAPDH.</p><p><b>RESULTS</b>Eight genes were tested. The overexpression of SPARC, PDGF-A, SERPINE1, TGF-beta(1) and VEGF-C genes were measured in 16, 18, 16, 20, 18 cases of tumor specimens, respectively. The expression of CK15 gene was lower than that of its normal tissue. There were overexpression of CCND1, BIRC3 in tumor tissues, but there was no significant difference of CCND1 and BIRC3 expression between tumor tissue and normal tissue (P > 0.05).</p><p><b>CONCLUSIONS</b>SPARC, PDGF-A, SERPINE1, TGF-beta(1), VEGF-C and CK15 genes were closely related to tumor progress of OSCC. They can be used as the target genes for designing oligo-nucleotide functional microarray of OSCC.</p>