[Objective] To investigate the relationship between the body constitution and the syndromes of the bronchiectasis patients and provide the basis for the clinical treatment.[Methods] Col ected 80 out-patients and in-patients of bronchiectasis in the first affiliated hospital of Zhejiang Chinese Medical University from May 2011 to March 2012. Al patients met with the inclusion criteria, adopted the standardization of physical scale for physical identifica-tion and dialectical type and analyzed the relationship between constitution and syndrome.[Results] ①The gentleness type, qi-deficiency type and yin-defi-ciency type were more popular in the bronchiectasis, fol owed by the phlegm-wet type, wetness-heat type, yang-deficiency type and qi-depression type. The special inherited type and blood-stasis type were very rare. ②The syndrome of phlegm heat obstructing lung was the top one in the Chinese tradi-tional medical syndromes(48.75%).The frequency of liver-fire attacking lung syndrome, hyperactivity of fire due to yin deficiency syndrome and qi-yin de-ficiency syndrome were 21.25%, 18.75% and 11.25% respectively. ③From different body constitution distribution of TCM syndromes in patients with bronchiectasis, it could be found:gentleness type, qi-deficiency type, yang-deficiency type, phlegm-wet type and wetness-heat type were most presented as phlegm-heat stasis lung syndrome. Patients with qi-deficiency type were most presented as qi-yin deficiency syndrome .Patients with Yin deficiency type were always performed as hyperactivity of fire due to yin-deficiency syndrome. Patients with lung qi-stasis type were liver-fire invading lung syn-drome.[Conclusion] Phlegm-heat stasis syndrome was the main syndrome in patients with bronchiectasis. It conformed to the pathological characteristics of deficiency essence with virtual reality. Different body constitutions decided the different traditional Chinese medical syndromes after the disease onset.

BackgroundRetinitis pigmentosa (RP) has the genetic and phenotype heterogeneity.To determine the disease-causing gene is a foundation of gene therapy.Objective This study was to localize the pathogenic gene and screen the gene mutation associated with Han Nationality autosomal dominant retinitis pigmentosa (ADRP) in a Chinese family.MethodsTwenty-one families enrolled this study,including 12 patients with ADRP and 9 individuals with normal phenotype.Perimetry,fundus examination,electrooculogram ( EOG ) and electroretinogram (ERG) were performed in 12 patients.Genetic linkage analysis was performed on the subjects in all known genetic loci related to ADRP with a panel of microsatellite markers.Subsequently,the mutation screening of rhodopsin gene was screened by direct DNA sequencing.This study was approved by Ethic Committee of Zhongnan Hospital of Wuhan University.Informed consent was obtained from each subject.ResultsThe fundus appearance of the proband was in accordance with the ADRP,and the EOG and ERG showed undetectable.Contractive visual field also was exhibited in the proband.Linkage analysis showed that the maximum logarithm of the odds(LOD) score reached 3.6671 at marker D3S1292 at recombination fraction θ =0.0.The results of direct DNA sequencing revealed a C→ G transversion mutation at codon 53 in exon 1 of rhodopsin gene,which resulted in a proline to arginine change (Pro53Arg) in 12 patients.However,no similar mutation was found in the unaffected members of this family.ConclusionsThe missence mutation Pro53Arg in rhodopsin gene cosegregate with the RP disease.It is determined to be a pathogenic factor of this ADRP family.

?Advances in genome-wide analysis have revealed that up to 90%of the human genome is transcribed.However, only approximately 1% of RNA transcripts encode proteins, and the remaining transcripts are noncoding RNAs.Noncoding RNAs can be roughly divided into small noncoding RNAs (<200nt ) and long noncoding RNAs ( LncRNAs, >200nt ). Small noncoding RNAs include microRNAs, transfer RNAs and small nucleolar RNAs, whereas the long noncoding RNAs comprise ribosomal RNA, natural antisense transcripts, etc. Although the biosynthesis and biological activities of microRNAs are well studied through bioinformatics and active biological molecules analysis, the understanding of LncRNAs on these aspects is still limited.LncRNAs play multiple roles in regulating gene transcription and translation, and epigenetics.Aberrant LncRNAs expression can occur in various pathological processes and significantly related to the pathogenesis or poor prognosis of ophthalmological diseases. In this review, we will focus on the characteristics and regulatory functions of LncRNAs that are commonly associated with ophthalmological diseases.

ObjectiveTo identify the relationship between urodynamic parameters and vaginal deliveries in women with genuine stress urinary incontinence(GSI).Methods56 women with vaginal delivery history who were diagnosed as stress urinary incontinence underwent urodynamic tests.Their abdominal leak point pressures(ALPP),maximum urethral closure pressure(MUCP) and functional urethral length(FUL) were recorded,and their Correlation to vaginal deliveries was tested using linear correlation coefficient.ResultsCorrelation between vaginal deliveries and ALPP showed a significant relationship(r=-0.349,P<0.05).Neither MUCP nor FUL showed a close relationship with vaginal deliveries(r=-0.219 and r=-0.178 respectively,P>0.05).ConclusionVaginal delivery plays an important role in the pathogenesis of GSI.The more vaginal deliveries,the more serious GSI.

BACKGROUND: Phenylketonuria is caused by gene mutation of phenylalanine hydroxylasel (PAH), which is mainly induced by permutation, short segments and insertion of base.OBJECTIVE: To evaluate the gene mutation of phenylalanine hydroxylasel in phenylketonuria in Hui nationality.DESIGN: Open study.SETTING: Urumqi General Hospital of Lanzhou Military Area Command of Chinese PLA; Capital Pediatrics Institute.PARTICIPANTS: A boy of Hui nationality in China and aged 3.1 years was selected in this study. The boy had intellect hysteresis in his one year and received medical treatment in his three years, while he was diagnosed as cerebral paralysis. After repeatedly inefficient treatment, he was hospitalized in our hospital on December 13, 2004. Iron sesquichloride in urine was strongly positive and concentration of serum phenylalanine was 1 680 μmol/L; therefore, he was diagnosed as the typical phenylketonuria.METHODS: 5 mL venous blood was selected from the boy and his parents, respectively, and anticoagulated with EDTA-Na2. DNA in gene group was extracted by using typical phenol/chloroform method. In addition, polymerase chain reaction (PCR) primer sequence of extron 7, 6, 11, 3, 12 and 5 of PAH gene was designed based on references. And then, PCR products were detected with 2% agarose gel electrophoresis. 5 μL PCR products were mixed with the same volume of degenerated buffer solution, degenerated at 97 ℃ for 5 minutes, put in iced bath and performed with 80 g/Lnon-degenerated polyacrylamide gel electrophoresis. After that, the products were dealt with sliver staining routinely, and single strand DNA banding patterns were analyzed and recorded. ABI377 automatic sequenator (PE Company) was used to detect PCR sequence and purify PCR product in Shanghai Boya Biotechnology Company.MAIN OUTCOME MEASURES: Iron sesquichloride in urine, concentration of serum phenylalanine and mutant gene types of phenylalanine hydroxylase.RESULTS: Extron 7, 6, 11, 3, 12 and 5 of PAH gene were analyzed in the boy and his parents. The results demonstrated that SSCP electrophoresis in extron 6 was different from that in the normal control group. Site of electrophoresis strip of his father was coincident with that of his mother, but different from that of the boy. Sequencing results indicated that point mutation (cytosine replaced by thymine), which was a R176X mutant heterozygote, occurred at the 526th site of cDNA of phenylalanine hydroxylase gene in his parents; however, two chromosomes of the boy had mutation at the same site, which was R176X mutant homozygote.CONCLUSION: Mutation of R176X homozygote of phenylketonurea is firstly reported in Hui nationality in China.

OBJECTIVETo observe the changes in expression of microRNA-203 and P63 in human epidermal stem cells and KCs, and to investigate their effects and significance in the epidermal proliferation and differentiation.

METHODS(1) Five normal foreskin tissue specimens were collected from 5 patients by circumcision in Department of Urinary Surgery of the First Affiliated Hospital of Nanchang University from March to June in 2013. Then single cell suspension was obtained by separating epidermis with trypsin digestion method. The cells were divided into quick adherent cells and non-quick adherent cells by type IV collagen differential adherent method. The biological characteristics of cells were observed by inverted phase contrast microscope immediately after isolation and on post culture day (PCD) 3. The expression of CD29, keratin 19, keratin 1, and keratin 10 was identified by immunocytochemical staining. The expression of microRNA-203 and mRNA of P63 was determined by real-time fluorescent quantitative RT-PCR. The protein expression of P63 was determined by Western blotting. Data were processed with t test and Pearson correlation analysis.

RESULTS(1) Immediately after isolation, quick adherent cells were small, round, and dispersed uniformly. On PCD 3, the cells adhered firmly, and they grew in clones. Immediately after isolation, non-quick adherent cells appeared in different shapes and sizes, and dispersed unevenly. On PCD 3, the cells adhered precariously and did not show clonal growth. Quick adherent cells showed positive expression of CD29 and keratin 19, while non-quick adherent cells showed positive expression of keratin 1 and keratin 10. Quick adherent cells were identified as epidermal stem cells, and non-quick adherent cells were identified as KCs. (2)The expression level of microRNA-203 in epidermal stem cells (0.74 ± 0.20) was lower than that in KCs (3.66 ± 0.34, t =16.582, P <0.001). The mRNA expression level of P63 in epidermal stem cells (4. 16 ± 0.28) was higher than that in KCs (2.90 ± 0.39, t =5. 850, P =0.001). The protein expression level of P63 in epidermal stem cells (1.42 ± 0.05) was higher than that in KCs (0.73 ± 0.03, t =26.460, P <0. 001). (3) The expression level of microRNA-203 was in significantly negative correlation with the expression levels of mRNA and protein of P63 (with r values respectively - 0. 94 and -0.98 , P values below 0.05).

CONCLUSIONSThe expression levels of microRNA-203 and P63 in human epidermal stem cells and KCs were significantly different, which might be related to the different characteristics of proliferation and differentiation of the cells.

Cell Differentiation ; Cells, Cultured ; Epidermis ; cytology ; growth & development ; Epithelial Cells ; cytology ; metabolism ; Gene Expression Profiling ; Gene Expression Regulation, Developmental ; Humans ; Integrin beta1 ; Keratin-10 ; genetics ; metabolism ; Keratin-19 ; genetics ; metabolism ; Keratinocytes ; Male ; Membrane Proteins ; genetics ; metabolism ; MicroRNAs ; genetics ; metabolism ; Stem Cells ; cytology ; metabolism

Background The pathogenesis and development of cataract is associated with oxidative stress-induced apoptosis of human lens epithelial cells(LECs).BH3-only protein is a factor that can initiate apoptosis,and thus the apoptotic process is probably related to the activation of the c-Jun N-terminal kinase(JNK).However,the relationship between oxidative stress-induced apoptosis of human LECs and the JNK pathway remains to be illuminated.Objective This study was to investigate the effects of the JNK/c-Jun pathway and its target gene,Bim (Bcl-2 interacting mediator of cell death)and PU M A(p53 up-regulated modulator of apoptosis),on oxidative stressinduced apoptosis of human LECs.Methods The human LECs cell line(HLEC-B3)was cultured and passaged in DMEM with 10％ fetal bovine serum in vitro.Confluent cells were incubated in 24 well plates and divided into 4 groups.Hydrogen peroxide(H2O2)(50 μmol/L)was used to treat the cells for 4,8 or 12 hours,and cells without H2O2 treatment served as the control group.Apoptosis was detected using Hoechst 33258 staining and quantified by counting the number of cells with pyknotic nuclei.In addition,confluent cells were seeded in 6 well plates,and Western blot and RT-PCR were used to detect the expression of the caspase-3,c-Jun,Bim and PUMA proteins and their mRNA in HLEC-B3,respectively.The JNK/c-Jun pathway inhibitors,CEP11004 or SP600125,were added into cultured media with H2O2,and cells treated with DMSO or H2O2 only served as negative and positive control groups.The expression of the p-JNK,JNK,p-c-Jun,c-Jun,Bim,PUMA proteins was detected by Western blot and apoptosis was assayed using Hoechst 33258 staining.200 pmoL/L of Bim or PUMA small interference RNA(siBim or siPUMA)fragments were transfected into the cells for 24 hours,respectively,and H2O2 was then used to treat the cells for 8 hours.The expression of the Bim and PUMA protein and their mRNA in the cells was detected by Western blot and RT-PCR,respectively.Results After H2O2 treatment in HLEC-B3 cells for 4,8,or 12 hours,the rates of apoptosis were 4.30％±1.15％,27.08％±0.74％ and 46.59％±0.91％,showing a significant difference among them (F=1909.433,P=0.000),and those of the 4,8,12 hour groups were significantly increased in comparison to the control group(P =0.049,0.000,0.000).Compared to untreated cells,the levels of expression of the JNK,Bim,PUMA proteins and their mRNA in HLEC-B3 cells were significantly elevated.After the addition of CEP11004 or SP600125,the expression of these protein and mRNA in HLEC-B3 cells in the presence of H2O2 was significantly weaker than that in the DMSO control group(P =0.000,0.000).After the tranfection of siBim or siPUMA,the apoptosis rates of the H2O2 treated groups were significantly higher than those in the Bim-/-or PIMA-/-group (P＜0.05).Conclusions H2O2 can activate the JNK/c-Jun pathway and up-regulate the expression of its target genes Bim and PUMA in human LECs in a time-dependent manner.Inhibiting the JNK/c-Jun pathway and interfering with the expression of Bim and PUMA can protect human LECs against oxidative stress-induced apoptosis.

Objective To investigate the executive function of children with different sports training. Methods Forty children with Ping-Pong training (Ping-Pong group) and 41 children with swimming training (swimming group), aged 6-9 years, completed GO/NOGO task. Behavioral data (reaction time and accuracy) and event related potential component N2 were collected and analyzed. Results The reaction time was significantly faster and accuracy significantly lower of GO task and NOGO task in swimming group than in Ping-Pong group (P<0.05 and P<0.01). There were significant differences in the amplitude of NOGO-N2 on site CPz between swimming group and Ping-Pong group[(-11.36±9.4) μV vs (-7.55±7.99) μV, P<0.05]. Conclusion The inhibitory function of children with Ping-Pong training is stronger than those with swimming training.

Objective To perform mutation analysis of survival motor neuron gene 1 (SMN1 in two spinal muscular atrophy (SMA) patients and their parents to evaluate the effects of the two SMN1 gene mutations on the transcript levels of the gene and preliminarily predict their effects on the structure and function of SMN protein.Methods Mutation analysis of SMN1 gene was carried out by multiplex ligationdependent probe amplification,reverse transcript-polymerase chain reaction (RT-PCR) and cloning sequencing.Transmission of the mutations was confirmed by the mutation analysis in patients' parents.The full-length SMN1 (SMN1-fl) transcript levels of the patients carrying these subtle mutations were detected using quantitative RT-PCR.Results The two patients were diagnosed as SMA Ⅱ and SMA Ⅲ.They carried p.Val19GlyfsX21 and p.Ala2Gly SMN1 mutations in SMN1 gene,respectively.Both of the two mutations were originated from their fathers.Compared with the healthy individuals (23.5 ± 4.9),the two patients had a significant reduction in the level of SMN1-fl transcripts (t =3.322,P =0.011 (p.Ala2Gly) ;t =6.964,P =0.000 (p.Val19GlyfsX21)).However,compared with the healthy carriers (14.1 ±4.5),the patient with p.Ala2Gly mutation had no significant reduction in the level of SMN1-fl transcripts (13.9 ±3.6,t =0.058,P =0.955) ; however,the patient with p.Val19GlyfsX21 mutation had a significant reduction (4.9± 2.4,t =3.725,P =0.004).Conclusions Two SMN1 gene mutations are identified in our study.The mutation p.Val19GlyfsX21 is a novel mutation and p.Ala2Gly is firstly reported in Chinese SMA patients.p.Val19GlyfsX21 may possibly lead to decreased SMN1-fl mRNA by nonsense-mediated messenger RNA decay,however,p.Ala2Gly has no obvious effects on the amount of the SMN1-fl transcripts,indicating that its deleterious effect may be occurring at SMN protein level or the function of SMN protein.

Objective To discuss clinical efficacy of patients treated with surgical treatment for posttraumatic elbow stiffness combined with pain.Methods From January 2011 to December 2014,release treatment was performed on 32 cases of posttraumatic contracture of the elbow combined with pain by operation.There were 22 males and 10 females,at average age of 39 years(range from 18 to 65 years).25 cases of these patients with mild-to-moderate pain got a simple elbow release operation.There were 4 cases of severe pain patients complicated with elbow dislocation,after fully release the elbows,reduction was performed under the direct;Both elbow arthrolysis and dermal transplantation interval type elbow arthroplasty were performed in 3 cases of severe pain patients which had severe osteoarthritis.A total of 26 patients were installed hinged external fixator after operation for early functional exercise.Results All patients were followed up for an average time of 14 months(from 12 to 18 months).All patients were significantly improved in the range of elbow and pain symptoms.Postoperative joint function improvement:2 patients with severe stiffness improved to moderate stiffness,19 patients with moderate or severe stiffness improved to mild stiffness,and the remaining of 11 cases without stiffness,The improvement rate was 100％.Postoperative pain:6 cases of moderate or severe pain relieved for mild pain,26 patients pain disappeared,the pain relief rate was 100％.Mayo elbow performance score were evaluated before and after surgery.Preoperative score:the results were good in 6 cases,fair in 14 cases and poorin 12 cases;postoperative score:excellent in 20 cases,good in 8 cases and fair in 4 cases,the good rate is 87.5 ％.The difference between preoperation and postoperation was statistically significant (P＜0.05).Conclusion Elbow arthrolysis combined external fixation is beneficial to early functional rehabilitation and restoring the flexion and extension function of stiff elbow,at the same time,the pain caused by stale dislocation or arthritis of elbow can also get good effect.