[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.

Objective To analyze the distribution of common chromosomal karyotypes of patients with Turner syndrome (TS), and to explore the correlation between the age and height standard deviation scores (HSDS) on diagnosis.Methods Retrospective investigation was performed for the data of age and HSDS on diagnosis in 273 TS girls(≤ 18.0 years old)diagnosed by chromosomal karyotypes.The main statistical methods were analyzed with t-test and Pearson correlation test by using the SPSS 18.0 statistical software.Results (1) There were 4 kinds of common chromosomal karyotypes in the TS :45, X (87/273 cases,31.9％),46, X, i (Xq) (43/273 cases, 15.7％) ,45, X/46, X, i (Xq) (36/273 cases, 13.2％) and 45, X/46, XX (23/273 cases, 8.4％), respectively, the adolescent TS all had delayed puberty.For the cases with 45, X karyotypes ,3 cases presented mental retardation and 2 cases with organs deformity.(2)The patients with 45 ,X/46,X,i(Xq) karyotypes or with 46,X,i(Xq) karyotypes had the maximum(12.56 age) or the minimum(9.70 age) mean age on diagnosis, respectively, there was a significant difference between 2 groups (t =3.019, P =0.004).The maximum deviation from normal height was found in the patients with karyotypes of 46, X,i (Xq) (HSDS =-4.04), and the minimum deviation was in the patients with karyotypes of 45,X/46, XX (HSDS =-3.16), and there was a significant difference between 2 groups (t =-2.95, P =0.004).(3) More than 75.7％ of TS patients was diagnosed when their heights deviated above 3 SD,and their mean age on diagnosis was 12.10 age,which was 3 years later than those patients within 2 SD.(4) There was a significant negative correlation between the age and HSDS on diagnosis in the groups of common chromosomal karyotypes[45,X、46,X,i(Xq) and 45,X/46,XX] (r =-0.551,-0.560,-0.622,all P ＜ 0.01), except for the group with the 45, X/46, X, i (Xq).Conclusions (1) In this study, the consti-tuent ratios of these 4 common chromosomal karyotypes were different from those in Europe and America's.(2)Patients with 45 ,X may have more severe symptoms than others.(3)The mean age on diagnosis was at least 3.0 years earlier when considered HSDS below-2.00 as an indicator for chromosomal karyotype screening,which would facilitate earlier diagnosis.

Objective To explore the training model of nurse specialists in geriatric and study its practical effect. Methods Forty-two nurse specialist participating in the training courses in geriatrics were enrolled in the study. The training was divided into 2 stages: the first one was for 1 month theoretical study together with 2 months clinical practice; the second was for 9 months clinical research on a specific topic. The examinations were done both at the two stages. They were interviewed on their views on theoretical study and internship at the end of first stage. Results The degree of satisfaction with the theoretical course was 91.6%, and the satisfaction degree of internship was 92.9%. The average scores at the end of the final examination and graduation examination were more than 85 points. Toally they were funded with 4 muncipal scientific research programs and 3 municipal patents, and published 9 academic papers. Conclusions The standardized training model is accessible for the nursing because of the training content and form. This model is feasible and effective, and it is worth applying and popularizing in the training of nurse specialist in the future.

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 establish animal model of arterial vulnerable plaques for molecular imaging study.Methods Fifteen New Zealand white rabbits were randomly divided into high lipid diet+balloon-injury group (A),high lipid diet group (B)and regular diet group (C).Ultrasound (US)and magnetic resonance (MR)imaging were used to dynamically observe the formation of plaque in abdominal aorta. Results were compared with blood lipid level and pathological indicators.Results At 4 weeks,several plaques could be seen in group A.The plaque number increased rapidly and reached to 22 at 12 weeks,which was in parallel with the change of blood lipid. Only a few plaques were observed in group B,while no vulnerable plaque was revealed in group C.All the plaques were judged to be soft plaques on US and MR images,which was consistent with the macrophages gathering and smooth muscle cell proliferating in plaques.Conclusion High lipid diet+balloon-injury is an ideal method to build animal model for molecular imaging of atherosclerotic plaque.

Objective To investigate the effects of aquatic Taiji Quan on balance function of patients with incomplete spinal cord injury. Methods From March to December, 2015, 30 patients with incomplete spinal cord injury received aquatic Taiji Quan exercise based on rou-tine rehabilitation, 30 minutes every day, five times a week for five weeks. They were assessed with Berg Balance Scale (BBS) before and after exercise. Dynamic balance function and static balance function were also assessed with Active Balancer assessment. Results The BBS score significantly improved after exercise (t=-9.652, P<0.001). The track length and area of gravity movement with eyes open and closed decreased (t>3.528, Z>-2.590, P<0.01). No improvement was observed in the deflection center displacement of X and Y axes (P>0.05). The dynamic stability limit range enlarged (t=-4.516, P<0.01), and the time to target significantly shortened (t=4.530, P<0.001). Conclusion Aquatic Taiji Quan can improve the balance function of patients with incomplete spinal cord injury.