OBJECTIVETo investigate the genome structure variation (SV) related with keloid using the whole-gene resequencing technology.

METHODSWe studied a keloid pedigree containing 4 generation of 27 people. 5 people (4 cases of keloid patients, and 1 case of normal) were selected to extract the genomic DNA. Then the whole-gene resequencing technique was used to check the variations.

RESULTSThrough database comparison and variation annotation analysis, we obtained 2 SVs associated with keloid formation. We used DAVID software to do the gene ontology and pathway analysis. We found a 168 bp inversion in gene tetraspanin 8 (TSPAN8) in all keloid patients, which contained the forth exon of TSPAN8.

CONCLUSIONSThere was no report about SVs related to keloid. In this study, we found 2 SVs associated with keloid, especially TSPAN8. The tumor cells express the TSPAN8 can up-regulate the vascular endothelial growth factor and its receptors, promote the adjacent fibroblasts secrete matrix metalloproteinases and uridylyl phosphate adenosine. So we hypothesis that the inversion of the forth exon in TSPAN8 may lead to the signal transduction disorder in the keloid patients. This study was a preliminary research. It needs a further study containing large sample to confirm.

Base Sequence ; Female ; Humans ; Keloid ; genetics ; Male ; Molecular Sequence Data ; Pedigree ; Sequence Analysis ; methods ; Tetraspanins ; genetics

Objective To study the clinical and genetic characteristics of keloid through investigating on four Han Chinese pedigrees.Methods The pedigree information and clinical data from Han Chinese keloid pedigrees were collected,which consisted of 22 patients in 127 family members,and then the charts of these pedigrees were constructed according to the data.Using the genetic model and pedigree analyses we summarized the clinical features of the disease in the families.Results Four Han Chinese keloid pedigrees were discovered.The three pedigree spans included 3 generations and one was 4 generations.Incidence of KD in the consanguinity family member was 23.7％ (23/93),and 20.8％ (11/53) in male KD,and 27.5％ (11/40) in female.Incidence of anterior chest KD was 40.9 ％.The inheritance pattern observed in these pedigrees was consistent with an autosomal dominant inheritance multi-gene hereditary disease with incomplete penetrance,and its nonpenetrance of KD gene carriers was 12％ (3/25).Conclusions The pattern of inheritance observed in these four Han Chinese keloid pedigrees is similar to previous reports and no gender differences are found in the incidence of disease,but differences in pathogenic site.Pedigree investigation helps to reveal the genetic characteristics of keloid.

Objective To introduce 13 clinical cases of reconstructing traumatic defect on skin of thumb and first web using nail skin flap of big toe connectedwith tibial flap of second toe.Methods From May 2003 to April 2007,a series of 13 case8 of traumatic thumb and first web defect were treated by transplantation of nail skin flap of big toe connecting with tibial skin flap of second toe.Among which two total hand degloving injury cages were included too.Two kind of way according the Gilbert type of the Ist metatarsus dorsal artery were used.Results All the cases were successful and healed by first intention.The contour of reconstructed thumbs showed to be normal or approximately normal.Follow-up examination were obtained in nine cases for 3-17 postoperative months(average 7 months).Sensations of pain,touch and temperature recovered.The two-point-discrimination sensation were found to be 7-17 mm respectively.Opposition measured were 60°-85°(average 75°).All the patients can be back to work and restored activities of daily living.Conclusion In treating soft tissue defect of thumb and first web,transplantation of the nail skin flap of big toe connecting with tibial lateral skin flap Can yield ideal skin covering and exceHent motor function.

Objective To present some revision surgery for correcting short and bulky outward appearance of reconstructed finger pulp in toe-to-hand transfer. Methods Since Sep. 1998 to Dec. 2006,in a series of 33 patients, 39 fingers had been reconstructed with 2nd toe. In order to change the shape of bulbous distal toe segment into a normal tapering fingertip, revisional operations had been designed, i.e. (1)Excision of bulky skin and excessive soft tissue from one or both sides of the finger pulp. (2)Transfer and inlaid the excised lateral soft tissue flap to the central constricting part of the finger pulp. (3)Full thickness skin graft to palmar central narrow part of toe pulp. 4. Rotational transfer of local lateral "L" shape flap. Results All the patients healed by first intention with no skin necrosis occurred. The bulbous rectangular shaped toe pulp were corrected and outward appearance were much improved in most cases. Though the outward appearance in one simple skin graft case was not satisfactory in correcting flexion deformity of distal segment and increased its circumference. Conclusion In toe-to-hand transfer, the distal segment of reconstructed finger often shown to have an bulbous toe pulp appearance, which may bring psychological burden to the patient and their relatives. Simple revisional surgery recommended here may yield favorable improvement.

OBJECTIVETo screen SNP information of keloid pedigrees through whole genome sequencing.

METHODSWe Collected information and clinical data of the keloid pedigree and constructed charts of the pedigree. The DNA was extracted from peripheral venous blood samples of the pedigree to sequence the whole genome.

RESULTS27 SNP and 8 disease-associated genes were screened out.

CONCLUSIONSWhole genome sequencing technology can select new genetic mutations associated with keloid, and provide a new way for the research of keloid.

China ; ethnology ; Genome, Human ; Humans ; Keloid ; genetics ; Mutation ; Pedigree ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA

Objective To discuss the clinical application and therapeutic effect of repairing deformed thumb in the way of transposition of abandoned polydactyly with neurovascular bundles.Methods From January 2005 to December 2011,six cases of type Ⅳ deformities of thumb duplications were treated with excision of thin and deformed thumb phalangette of trunk,the redundant hyperdactylia,which was well-formed and involved in the first web space,was then transposed with neurovascular bundles to the thumb phalangette of trunk by the first web space and the side of thumb for fixation followed by repairation of form of thumb phalangette.The surplus metacarpal bone and phalanx of duplications were removed and the first web space was reconstructed.Results All 6 cases of heterotopic thumb phalangette transplanted to the deformed thumb phalangette were completely survived.Kirschner wires were removed 4 weeks after operation.Fracture healing occured after 4 to 6 weeks after operation.Postoperative follow-up period ranged from 3 months to 1 year.Transplanted thumbs possessed well-formed appearance with previous sensation on the finger pulp as well as excellent function of grabbing and opposing.Conclusion To repair deformity of trunk thumb in the way of microsurgery by means of transposition of duplicated thumb with neurovascular bundle which should be abandoned,is a simple operation with satisfactory and reliable postoperative effect.It shall be spred and applied.

Objective To investigate the expression of the cyclin D1 in pubertal mammary hypertrophy and micromastia. Methods The expression of cyclin D1 was detected by SP immunohisto-chemistry in 18 cases of pubertal mammary hypertrophy and 12 cases of micromastia. Results The expression rate of cyclin D1 within breast tissue was 83. 33 % and 16. 67 % in pubertal mammary hypertrophy and micromastia, respectively. There was significant difference between the two groups (P<0. 01). Conclusion The expression level of the cyclin D1 within breast tissue in pubertal mammary hypertrophy is higher than that in micromastia.

Objective To assess and review the methods of the reversed posterior interosseous artery flap for treating the contracture of the first web space. Methods Forty-two cases of the first web space severe contracture were cured by the reversed posterior interosseous artery flap rotate at 1.5-2.0 cm proximal ulnar styloid process after release the adhesion. After operation curative effects were evaluated by measuring the first web space with Gu's method. Results The flap of 42 cases obtain success, however 3 cases was partly necrosis of epidermis. Follow-up examination was obtained in 31 cases for average 18 months after operative.The width of the first web space was augmented an average of 37.9 mm. Rehabilitation training after operation can enhance the effect of the therapy with 8.6 mm more expanded. Conclusion The flap is an ideal choice for treatment on the defect of the contracture of the first web space and rehabilitation training after operation is important.

OBJECTIVETo investigate the genome copy number variation (CNV) related with keloid using the whole-gene resequencing technology.

METHODSA keloid pedigree containing 4 generation of 27 people was studied. Five people (4 cases of keloid patients, and 1 case of normal) were selected to extract the genomic DNA. Then the whole-gene resequencing technique was used to check the variations based on the Illumina Hiseq 2000.

RESULTSThrough database comparison and variation annotation analysis, 15 CNVs associated with scar hyperplasia were obtained. DAVID software was used to do the Gene Ontology and pathway analysis. Five CNVs were closely related to the keloid formation. They were growth factor receptor-bound 7 (Grb7), mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), mitogen-activated protein kinase kinase kinase 15 (MAP3K15), kruppel-like factors 7 (KLF7) and NK2 homeobox 2 (NKX2-2). These CNVs were involved in the process of epidermal cells formation and differentiation, cell exocrine and cell adhesion.

CONCLUSIONSThere are 5 CNVs associated with scar hyperplasia. Especially MAP3K15 and MAP4K4 deserve more research to find their function in keloid formation.

Cicatrix ; genetics ; DNA Copy Number Variations ; Female ; Humans ; Male ; Pedigree

Objective To explore how to overcome the difficulties during two paddle anterolateral thigh flap harvest. Methods From January, 2009 to December, 2015, the harvest of two paddle anterolateral thigh flap was encountered difficulties during surgery in 8 cases, which were 7 males and 1 female. The age was ranged from 16 to 48 years old, with averaged of 32.8. Six patients presented with one defect, and 2 patients presented with two defects. The skin defects ranged from 60-247 cm2. The number of the flap perforator, vascular source, flap pattern and out-comes was recorded. All patiants were followed-up at regular intervals. Results All of 8 flaps were converted suc-cessfully during surgery. Only 1 perforator was found in 4 cases. The flap was converted to sigle perforator flap. The dornor site was covered by skin graft. Two perforators from different origins were found in 2 cases, and the flap was converted to sequential chimeric flap. Two perforators from descending branch and transverse branch respectively were found in 1 case, and the flap was converted to combined anterolateral thigh and tensor fascia lata flap. Only 1 perfora-tor was found in 1 case, which the distal defect was small sized, the flap was converted to deepithelialized two paddle flap. The flap ranged from 78-288 cm2. Venous compromise was happened in 1 case, and the flap survived after reex-ploration surgery. Local infection was found in 2 cases, and cured with wound dressing. Other flaps were survived un-eventfully. At donor site, 1 case wound dehiscence and 1 case local infection, both of which underwent debridement and healed. All patiants were followed-up for 7-21(mean, 11.5)months. The flaps had satisfactory appearance and soft texture. Conclusion When it is difficult to harvest two paddle anterolateral thigh flap during surgery, the flap need to be converted rationally based on the characteristics of the defect, the number of the flap perforator, and the vascular origins.