Objective:To explore the changes of orthodontic therapy with tooth extraction on frontal view of facial soft tissue in adult females with Class Ⅱ division 1 malocclusion.Methods:Frontal view of facial soft tissue aesthetic charaeteristics of 30 with and 21 without tooth extraction adult females with Class Ⅱ division 1 malocclusion were measured with direct anthropometry before and after orthodontic treatment.Results:After the extraction treatment,the distance of N-Me,Sn-Me,Sn-UL,LL-Sm,Sto-Me,Ch-Ch in-creased(P <0.05),while UL-LL decreased(P <0.05).But Zy-Zy,Go-Go had no significant change(P >0.05).There was no sig-nificant change in each parameter in nonextraction group(P >0.05).Between the 2 groups Sn-UL,LL-Sm and UL-LL showed differ-ence(P <0.05),but other parameters showed no difference(P >0.05).Conclusion:Orthodontic treatment with tooth for the fe-males with Class Ⅱ division 1 malocclusion can improve the incompetent lips,and recover the coordination between the upper and lower lips.There is little change on facial height and width.

Objective To evaluate and analyze the clinical effect of comprehensive rehabilitation therapy after arthroscopic rotator cuff repair using suture-bridge technique for full-thickness rotator cuff tears.Methods Forty-one patients (20 males,21 females; mean age 52.2 years) with full-thickness rotator cuff tears were treated with arthroscopic rotator cuff repair using suture-bridge technique between June 2010 and January 2012 in our hospital.After arthroscopic rotator cuff repair,the patients were randomly assigned to a treatment group (21 patients) or a control group (20 patients).The treatment group received systematic rehabilitation therapy including rehabilitation education,physical modalities treatment and rehabilitative training additionally,while the control group only accepted the routine rehabilitation therapy including stretching and muscle strength training.The outcome was evaluated at 6 months after surgery,by employing visual analogae scale (VAS),the range of motion (ROM) testing of shoulder joint flexion and rotation,the rating scale of University of California at Los Angeles (UCLA),and the shoulder index of American shoulder and elbow surgeons (ASES).Results The mean follow-up period was 15.6 months (8-24 months).Prior to intervention,there was no significant difference in any parameter between the two groups (P ＞ 0.05).Six months later,all scores of assessments changed:in treatment group VAS (1.7 ± 1.5),ROM [flexion (168.3±31.3)°,rotation (47.2±11.2)°],UCLA(30.7 ±4.13) and ASES (85.1 ±15.67); in control group VAS(3.8±2.2),ROM[flexion (121.2 ±53.6)°,rotation (32.9 ±14.9)°],UCLA(18.3 ±4.94) and ASES (36.4 ± 17.70).Significant changes occurred in both groups in all the parameters after treatment when compare to baseline (P ＜ 0.05).Conclusions Comprehensive rehabilitation therapy is an effective approach for improving motor ability of the shoulder in patients after arthroscopic rotator cuff repair with suture-bridge technique for their full-thickness rotator cuff tears.

Objective To investigate the expression and clinical value of miR-127-3p in plasma of patients with breast cancer .Methods 80 cases of breast patients , 70 cases of benign breast tumor patients and 70 cases of normal control group were recruited .A real-time fluorescent quantitative reverse transcription polymerase chain reaction ( RT-PCR ) method for detecting miR-127-3p was established; Liner, reproducibility, and specificity were evaluated.In addition, correlations between the relative expression of plasma miR-127-3p and the concentrations of CEA and CA 153 were assessed.the relationship of miR-127-3p expression and clinicopathological features was further determined by Mann-Whitney test.Results The method for detection of plasma miR-127-3p was established.The relative plasma expression of miR-127-3p in breast patients [ 10.561 ( 5.424 -16.465 ) ] was significantly higher than that in benign breast tumor patients [3.015 (1.987-5.035)] (P=0.000 6) and healthy controls [2.375 (1.173-4.370)] (P=0.000 2).However, there was no significant difference between benign tumor patients and healthy control group (P=0.143).Positive relationship was found between the relative expression of miR-127-3p and the concentration of CA153 (R2 =0.457, P=0.003).The area under the ROC curve (AUC) of miR-127-3pwas 0.763, which was higher than that of CEA and CA 153.No significant difference was found between plasma miR-127-3p expression and clinicalpathological features including tumor size , differentiation and tumor node metastasis stage (P>0.05).Conclusions miR-127-3p was increased in breast cancer patients and may be an important diagnostic index for breast cancer .

Objective To investigate the expression and clinical significance of plasma miR-124 in acute ischemic stroke (AIS). Methods Forty patients with AIS were collected and 40 volunteers without history of AIS were set as control. Infarction volume was detected by MRI; plasma miR-124 expression level was measured by RTPCR technique and neural function was evaluated by NIHSS scores. Results Compared with that in the control group, plasma miR-124 level in AIS group was significantly reduced (P < 0.05). Plasma miR-124 level in AIS patients with infarction volume greater than 3 cm3 was significantly lower than that of AIS patients with infarction volume less than 3 cm3 (P < 0.05). Correlation analysis showed a negative correlation between miR-124 and infarction volume (r =-0.473, P < 0.05). Plasma miR-124 level in AIS with NIHSS score higher than 5 was significantly lower than that of AIS patients with NIHSS lower than 5 (P< 0.05). NIHSS score negatively correlated with the miR-124 level of AIS patients (r =-0.567, P < 0.05). Conclusion The plasma miR-124 is significantly reduced in patients with AIS, and negatively correlated with the cerebral infarction volume and NIHSS score.

OBJECTIVE: To explore the genetic basis for a Chinese pedigree where three siblings were affected with Parkinson's disease. METHODS: Multiple ligation-dependent probe amplification (MLPA) and next-generation sequencing (NGS) were employed to detect the causative mutation. Sanger sequencing of cDNA was also used for verify the effect of mutation on the transcription of RNA. RESULTS: Heterozygous deletion of exon 3 of the PARK2 gene was detected by MLPA, while a heterozygous splice site variant c.619-3G>C was detected by NGS. Both mutations were shown to result in aberrant transcripts of the PARK2 gene (loss of exons 3 and 6, respectively) by Sanger sequencing of cDNA. Both mutations have co-segregated with the disease in the pedigree. CONCLUSION Compound heterozygous mutations of the PARK2 gene probably underlie the disease in this pedigree. Identification of the splice site variant c.619-3G>C has expanded the mutation spectrum of the PARK2 gene.
Asian Continental Ancestry Group ; China ; DNA Mutational Analysis ; Exons ; Heterozygote ; Humans ; Mutation ; Parkinson Disease ; genetics ; Pedigree ; Ubiquitin-Protein Ligases ; genetics

Objective: To explore the relationship between genotype and phenotype of ABCB11 deficiency. Methods: Clinical data of two siblings with ABCB11 deficiency were retrospectively analyzed. Related literature from PubMed, CNKI and Wangfang databases was reviewed to date (up to August 2017) with 'ABCB11 gene’ or 'bile salt export pump’, 'cholestasis’ and 'child’ as key words. Results: The patients were siblings. Both of them presented as jaundice, pruritus and hepatosplenomegaly since 3 days after birth. Significant laboratory findings on admission of the older sister included high total bilirubin, 170 µmol/L;conjugated bilirubin, 115.8 µmol/L;alanine aminotransferase, 168 U/L;total bile acid 186.3 µmol/L and normal gamma-glutamyl transpeptidase. While routine laboratory data of the younger brother were as follows: total bilirubin, 148.8 µmol/L;conjugated bilirubin, 96.3 µmol/L;alanine aminotransferase, 232.8 U/L;total bile acid 226 µmol/L, and normal gamma-glutamyl transpeptidase.Both received ursodeoxycholic acid and fat-soluble vitamins. Liver pathology of the younger brother showed giant hepatocytes with ballooning degeneration, focal necrosis and intrahepatic cholestasis. Both the patients harbor the same compound heterozygous mutations in ABCB11 gene, c.145C>T (p.Q49X) and c.1510G>A (p.E504K). The sister is 9 years old now, with normal liver function. Jaundice faded around 3 months after birth, pruritus relieved at age 5, and medications was stopped since then. The brother progressed to liver failure after an operation on perianal abscess when he was 8-month-old, and received living-related liver transplantation when he was 9 month and 20 days old (from his mother). Now he is 1 year and 5 months old, with normal liver function. Both are under our follow-up. Literature review revealed 18 ABCB11 deficiency patients from 7 families who had apparent different prognoses, within each family the siblings had the same ABCB11 gene mutation. Seven cases relieved after ursodeoxycholic acid therapy and/or partial external biliary diversion, 5 received orthotopic liver transplantation, 2 developed hepatocellular carcinoma and 4 cases died in childhood. Conclusions The clinical manifestations of ABCB11 deficiency may vary greatly in patients carrying the same genotype, even in siblings. Patients should be managed in individualized maner.