Objective To study the diagnosis and treatment results of the traumatic perforation of the esophagus.Methods Retrospective analysis was performed in 19 cases with the traumatic perforation of the esophagus hospitalized.Results Treatment options ranged from aggressive to conservative management.Repair of esophageal perforation was performed in 9 cases,cervical drainage in 2 cases and conservative treatment in 8 cases.17 cases recovered from the disease,making up 89.5%the mortality rate was 10.5%.Conclusion In order to increase the recovery rate and decrease the mortality.it is important to diagnose and treat the disease in it's early phases.

Objective To detect the mutations of COL7A1 gene in three cases of dystrophic epidermolysis bullosa pruriginosa (DEBP). Methods Clinical data were collected from 3 patients with DEBP. Skin lesions were obtained from these patients and subjected to transmission electron microscopy. DNA was extracted from the peripheral blood of the 3 patients, their 16 relatives, and 150 unrelated normal human controls, and PCR was performed to amplify all the exons and flanking sequences of COL7A1 gene followed by sequencing.Results The patient 1 and 2 had family history, whereas the case 3 was sporadic. Transmission electron microscopy showed tissue cleavage beneath lamina densa in case 1 and slightly decreased anchoring fibrils in some areas of the lesions in case 1 and 3. Three heterozygous mutations of COL7A1 gene, i.e., c. G6734T, c.G6859A and c. G5318T, which leaded to three amino acid mutations, i.e., p. G2245V, p. G1773V and p. G2287R, were found in patient 1, 2 and 3 respectively. Of them, p. G2245V and p. G1773V were novel mutations. The mutations strictly cosegregated with the phenotype in the patients of family 1 and 2. No mutation was detected in the unaffected parents of patient 3 or the 150 unrelated healthy controls. Conclusions The p. G2245V, p. G2287Rand p. G1773V mutations of COL7A1 gene may be responsible for the phenotype of DEBP in the three cases,and of them, p. G2245V and p. G1773V have never been reported.

Objective To investigate the relationship between dynamic changes of plasma D-dimer and survival rate of the esophageal carcinoma patients pre-and post-operation.Methods 30 cases of normal control group,160 cases of esophageal cancer group( including operation cases n =112),with the gold standard method for the determination of plasma D-dimer.Results There was a link between the level of D-dimer,TNM staging,lymph node metastasis and tumor size in esophageal carcinoma patients.Compared with the preoperation,the plasma D-dimer is significantly elevated 2 years later( t =7.35,P ＞ 0.05 ).Conclusion Before or after the operation,dynamic changes of plasma D-dimer had a relationship with short-term survival rate.

Objective To study cutaneous ultrastructural changes and FERMT1 gene mutations in a patient with Kindler syndrome. Methods Clinical data were collected, and tissue samples obtained from the lesions of poikiloderma were observed by using transmission electron microscopy. Fifteen coding exons and their flanking sequences of the FERMT1 gene were amplified by PCR and DNA sequencing was followed.Results Reduplication of lamina densa was seen between the dermal-epidermal junctions of the lesional skin. The patient was found to be homozygous for a novel splice-site mutation (IVS9 + 1G ＞ A) in FERMT1 gene, and his parents were heterozygous for it. The mutation was undetected in fifty normal control individuals.Conclusions Transmission electron microscopy may serve as an ancillary examination for the diagnosis of Kindler syndrome. The IVS9+1G＞A mutation of FERMT1 gene may contribute to the clinical phenotype of Kindler syndrome in this patient.