Objective To explore the effect of great saphenous vein interruption on distally saphenous neurocutaneous pedicled skin flap. Methods Fifty-two patients with skin and soft tissue lost on ankle received neoplasty using distally crural saphenous neurocutaneous pedicled skin flap. The patients were divided into two groups: the patients in interruption group (25 patients) were treated with great saphenous vein interruption on distally saphenous neurocutaneous pedicled skin flap, the patients in conventional group (27 cases) were treated without saphenous vein interruption. Results Primary healing: 15 patients (55.56%, 15/27) in conventional group, 21 patients (84.00%,21/25) in interruption group. With effusion: 17 patients (62.96%,17/27) in conventional group, 7 patients(28.00%,7/25) in interruption group. With venous crisis: 10 patients (37.04%,10/27) in conventional group, 2 patients (8.00%,2/25) in interruption group. There was statistical significance between two groups on the above 3 indexes (P <0.05). With infection: 7 patients (25.93%,7/27) in conventional group; 4 patients(16.00%,4/25) in interruption group. There was no statistical significance between two groups (P>0.05). Conclusions Great saphenous vein interruption could relieve swelling, reduce effusion and have higher primary healing rate in neoplasty using distally crural saphenous neurocutaneous pedicled skin flap compared with the conventional method, which greatly reduce the pain and medical expenses of the patients.

Objective To investigate the effect of free transplantation of fibula composite tissue flap to the repair of forearm bone and soft tissue serious defect.Methods Eleven cases of reparing forearm bone and soft tissue serious defect through transplantation of free fibula composite tissue petal were applied from March 2004 to February 2011.The length of transplanted fibula composite tissue flap was 8-14 cm ; the flap area was 5 cm ×8 cm-20 cm ×20 cm.The curing situation on bone fracture was observed in 3,6 and 12 months after the surgical opration and the function of defected arm was evaluated in 1 year after surgical operation.Results All of 11 cases of fibula composite tissue flap were survived.The observation was undertaken for more than 12 months after the operation and the fracture section occured the characteristics of healing up in 3 months and fibula and arm bone occured well healed up in half a year; It scored 22.9 according to Enneking system after 1 year of the operation.The function of forearm rotation were classed as this:3 good cases,6 medium cases and 2 poor cases.In the 2 sural nerve bridging transplantation cases,one case was repaired of radial nerve inside static's two-point discrimination (s2PD) to 9 mm,another case was repaired of ulnar nerve distal volar little finger s2PD to 15 mm.All the cases could achieve making a fist with thumb and a thumb could be oppoiste to other 4 fingers,and the ankle joint movement was normal.Conclusion Transplantion of free fibula composite tissue flap to the repair of forearm bone and soft tissue serious defect is an ideal surgical operation method.

OBJECTIVE: To explore the genotype-phenotype correlation of a Chinese pedigree affected with Lowe syndrome. METHODS: Whole exome sequencing (WES) and Sanger sequencing were carried out for the proband and members of his pedigree. RESULTS: The proband, a 3-year-and-5-month-old male, presented with multiple anomalies including congenital cataract, glaucoma, brain dysplasia, renal dysfunction and cognitive impairment. WES revealed that he has harbored a novel hemizygous missense variant of the OCRL gene, namely NM_000276.3: c.1255T>C (p.Trp419Arg) (GRCh37/hg19), which was derived from his unaffected mother. The same variant was not found in his elder brother who was healthy. The variant was predicted to be pathogenic according to ACMG/AMP guideline. Compared with previously reported cases of Lowe syndrome, our patient has displayed rare features including corpus callosum dysplasia, reduction of white matter, cerebral hypoplasia, laryngomalacia, sebaceous cyst, recurrent eczema, cryptorchidism, hypoglycemia and irritability. CONCLUSION Above finding has expanded the mutational spectrum of the OCRL gene, enriched clinical features of Lowe syndrome, and enabled genetic counseling for this pedigree.
Aged ; China ; Genetic Association Studies ; Humans ; Infant ; Male ; Mutation ; Oculocerebrorenal Syndrome ; Pedigree ; Phosphoric Monoester Hydrolases/genetics* ; Whole Exome Sequencing