Objective To identify gene mutations in two families with epidermolytic hyperkeratosis (EHK).Methods Clinical data were collected from two families with EHK.Peripheral blood was isolated from the probands and unaffected family members in the families as well as from 50 healthy controls.PCR was performed to amplify the encoding exons and flanking intron regions of KRT1 and KRT10 genes followed by direct DNA sequencing.Results Two mutations in the KRT10 gene,including a heterozygous acceptor splice site mutation in intron 4 (c.1030-2 A＞G) and a heterozygous missense mutation c.467 G＞A,were identified in the probands of both families,but absent in the unaffected family members or healthy controls.ConclusionThe splice site mutation c.1030-2 A＞G and missense mutation c.467 G＞A might be responsible for the phenotype of EHK in the two families.

OBJECTIVE: To determine the expression profile of microRNA (miRNA) in peripheral blood mononuclear cells (PBMC) and immune factors in pregnant women with hepatitis B virus (HBV) infection. METHODS: A total of 182 pregnant women infected with HBV were randomly selected, with 40 healthy pregnant women and 35 non-pregnant women as controls. High-throughput sequencing was used to detect RNA in the PBMC of all subjects. Indirect ELISA method was used to determine the changes of cytokines in peripheral blood samples. RESULTS: Compared with the control group, 18 differentially expressed miRNA were identified in those with HBV infection (P< 0.01). Among these, miR-3607-3p, miR-20a, miR-1296, miR-153-1 and miR-X4 may directly regulate the transcriptional level of target genes including IL-10, IL-18, IL-16, MCP-1, NUP50 and CCR1. Meanwhile, peripheral blood cytokines IL-10, IL-18, IL-16 and MCP-1 were significantly increased in those with HBV infection (P<0.01), with the expression level of IL-16 and MCP-1 being strongly correlated with the viral load. CONCLUSION The expression profiles of miRNA in PBMC and cytokines in peripheral blood can change significantly during pregnancy, both may be involved in the immune response to HBV infection.
Cytokines ; blood ; DNA, Viral ; Female ; Hepatitis B ; blood ; Hepatitis B virus ; Humans ; Leukocytes, Mononuclear ; metabolism ; MicroRNAs ; blood ; Pregnancy

Objective:To investigate the clinical characteristics and surgical treatment of enteric Behcet′s disease with acute abdomen.Methods:The clinical data and follow-up results of 9 patients with enteric Behcet′s disease with acute abdomen treated surgically were analyzed retrospectively.Results:All patients in this group had abdominal pain, with bloody stool in one case, failure to exhaust and defecation in 1 case. Physical examination revealed abdominal mass in 2 cases, peritonitis sign in 5 cases and tenderness of the right lower abdomen in 1 case. The causes of operation were pathological perforation of ileocecal region, pathological perforation of small intestine, acute appendicitis, ileum fistula, intestinal stenosis and obstruction and massive hemorrhage of lower digestive tract.In this group, laparotomy or laparoscopy were done in these cases, including ileocecal resection in 2 cases, partial resection of small intestine in 3 cases, laparoscopic appendectomy in 1 case and right colon colectomy in 3 cases. Incision infection occurred in 1 case, anastomotic leakage in 1 case and adhesive intestinal obstruction in 1 case occurred after operation. The median follow-up time of 8 cases was 7.5 years, and Behcet′s disease recurred in 4 cases, but no recurrence of enteric Behcet disease was found.Conclusions:Intestinal perforation, bleeding and obstruction are the main causes of intestinal Behcet′s disease with acute abdomen, and emergency surgery is an important means of treatment, moreover, nutrition support and drug therapy are the important supportive therapy to control this disease.

OBJECTIVE: To investigate the clinical effect of eruption guidance appliance in the treatment of anterior cross bite in mixed-dentition children. METHODS: In the study,10 mixed-dentition children with anterior cross bite, totally 12 incisors, were selected. Alginate was used to take upper and lower dentition impression and make a hard plaster model,which served as the eruption guidance appliance for treatment. The pre- and post-operative dental casts were digitized with SmartOptics Activity 880 scanner,and the three-dimensional overlapping models were obtained by reverse engineering software,Geomagic Studio 2012,then the three-dimensional movements of the upper and lower incisors were analyzed using Imageware 13.2 software. The overbite and overjet were analyzed using the same methods. Measurement with copper wire was used to analyze the upper and lower arch length. Space analysis was the result by the sum of crown width minus the arch length. The crown width of unerupted permanent teeth was according to X-ray method to predict. The SPSS 17.0 software was used to analyze the pre- and post-operative measurements of the same child. The normality test of the measured data showed that it conformed to the normal distribution. Therefore,the t test and double side test were used,and the significance level was 0.05. RESULTS: The course of treatment was (5.6±2.7) months. During orthodontic treatment, the upper incisors moved mainly labially (P<0.001) in three-dimensional displacement, and the lower incisors moved mainly the same direction (P=0.025). During the treatment of eruption guidance appliance,the average overbite decreased (1.01±0.9) mm (t=-3.531, P=0.006), and the difference was statistically significant. There was no statistically significant difference between the pre- and post-operative average overjet (t=0.771, P=0.460). The severity of crowding in upper arch decreased (1.9±0.99) mm (t=-6.042, P<0.001),and that in lower arch decreased (1.9±0.74) mm (t=-8.143, P<0.001), both of the differences were statistically significant. CONCLUSION The anterior cross bite in mixed dentition could be corrected by eruption guidance appliance, and at the same time, the normal overjet and overbite were established, and the teeth were aligned.
Child ; Dentition, Mixed ; Female ; Humans ; Incisor ; Malocclusion ; Malocclusion, Angle Class II ; Tooth Eruption