Objective To analyze the curative effects of different managements of different types of fracture of the first metacarpal basal body. Methods From October 1984 to October 2003, 142 patients with fracture of the first metacarpal basal body were treated with 5 different methods: manipulative reduction and fixation with abduction tooth arch, manipulative reduction and suspension traction, manipulative reduction and fixation with abduction frame, manipulative reduction and percutaneous internal fixation with Kirschner wire, as well as open reduction and internal fixation with Kirschner wire or screw. Results 80 patients were followed up. The therapeutic efficacy was excellent in 65 cases , good in 13 cases, poor in 2 cases. Conclusion Different types of fracture of the first metacarpal basal body can be treated satisfactorily if a suitable management is applied accordingly.

OBJECTIVE: To investigate characteristics of molecular etiology of children with profound sensorineural hearing loss in Hubei province, and to provide reference for deafness treatment and genetic counseling. METHOD: Three hundred and six children with profound sensorineural hearing loss in Hubei province were enrolled, their genomic DNA were extracted from peripheral blood and a deafness gene test chip was used to screen nine hot spot mutation in the GJB2, GJB3, SLC26A4, and mitochondria 12SrRNA gene. All patients with SLC26A4 gene mutation were given temporal bone CT scan. RESULT: One hundred and thirty-two (43.14%) out of 306 children were found carrying at least one pathogenic gene mutation. The mutation rates of GJB2, SLC26A4 and mitochondria DNA 12SrRNA gene were 29.41% (90/306), 13.72% (42/306) and 0.65% (2/306), respectively. None out of 306 children was detected GJB3 gene mutation. Thirty-six patients carrying SLC26A4 gene mutation were detected enlarged vestibular aqueduct by CT scan. CONCLUSION Mutations of GJB2 and SLC26A4 gene are two major pathogenic gene for genetic hearing loss in children. 235delC mutation is the main mutation type, followed by IVS7-2A> G mutation type. The screening of SLC26A4 gene common mutations contribute to the diagnosis of enlarged vestibular aqueduct syndrome.
Adolescent ; Child ; Child, Preschool ; China ; Connexin 26 ; Connexins ; genetics ; DNA Mutational Analysis ; Deafness ; genetics ; Female ; Genetic Testing ; Humans ; Infant ; Male ; Membrane Transport Proteins ; genetics ; Mutation ; Oligonucleotide Array Sequence Analysis ; Sulfate Transporters

Peripheral nerve defect is a common clinical disease, and the principle for treatment is to restore nerve continuity. At present, autologous nerve transfer is the main method for repairing nerve defects in clinic, but its application is limited by many disadvantages. In recent years, artificial repair materials without sacrificing autologous nerve have been applied and the safety and effectiveness have been preliminarily confirmed. This paper reviews the domestic and foreign literature reports in recent years.

Objective:To explore the feasibility and clinical efficacy of in situ vessels anastomosis in treatment of severe degloving injury of hand, and long-term follow-up observation of the clinical efficacy.Methods:From January 2016 to December 2018, 11 patients of severe degloving avulsion injuries were treated in the Department of Hand and Microsurgery of Tianjin Hospital. Six patients had right hands injuried and 5 in left hands. The age of patients ranged from 16 to 51 years old, with an average age of 31.5 years old. All injuries accompanied with metacarpal or phalangeal fractures. In situ vascular anastomosis was applied to all patients in the replantation surgery. Long-time follow-ups and observation of postoperative appearance, sensory and hand function recovery were conducted through visits of outpatient clinic.Results:All operations were successful. All degloving tissues survived after replantation in 6 patients. Partial palm skin necrosis and thumb nail bed necrosis occurred in 1 patient, and treated with skin grafting and abdominal flap transfer. Thumb nail bed necrosis occurred in 2 patient, in which 1 patient repaired by abdominal pedicled flap transfer, and the other patient repair by local flap transfer. One patient had dorsal hand skin necrosis, and repaired with free anterolateral thigh flap(ALTF). One patient had palm hand skin necrosis, and repaired with free skin grafting. There were 1 patient had index and middle finger necrosis and 1 with little finger necrosis. And finger amputation was performed later. Mean follow-up period was 22 (15-36) months. According to the Evaluation Standard of Upper Limb Partial Functional of Hand Surgery of Chinese Medical Association, 6 patients were in excellent, 3 in good and 2 in fair. According to the standard of British Medical Research Council (BMRC), sensation recovered to S 4 in 5 patients, S 3 in 5 patients and S 2 in 1 patient. Conclusion:Using precise microsurgical techniques to directly anastomose in situ vessels in the treatment of severe hand degloving injuries can achieve satisfactory long-term recovery of hand function.

To explore the pharmacogenomic markers that affect the platinum-based chemotherapy response in non-small-cell lung carcinoma (NSCLC), we performed a two-cohort of genome-wide association studies (GWAS), including 34 for WES-based and 433 for microarray-based analyses, as well as two independent validation cohorts. After integrating the results of two studies, the genetic variations related to the platinum-based chemotherapy response were further determined by fine-mapping in 838 samples, and their potential functional impact were investigated by eQTL analysis and in vitro cell experiments. We found that a total of 68 variations were significant at P < 1 × 10^-3 in cohort 1 discovery stage, of which 3 SNPs were verified in 262 independent samples. A total of 541 SNPs were significant at P < 1 × 10^-4 in cohort 2 discovery stage, of which 8 SNPs were verified in 347 independent samples. Comparing the validated SNPs in two GWAS, ADCY1 gene was verified in both independent studies. The results of fine-mapping showed that the G allele carriers of ADCY1 rs2280496 and C allele carriers of rs189178649 were more likely to be resistant to platinum-based chemotherapy. In conclusion, our study found that rs2280496 and rs189178649 in ADCY1 gene were associated the sensitivity of platinum-based chemotherapy in NSCLC patients.