Visual dysfunction is a common complication in cerebral palsy, including low visual acuity, refractive errors, strabismus, abnormal visual field, absent stereopsis, abnormal fundoscopic fingdings and nystagmus, etc. Low visual acuity is reported in almost three-quarters of patients.The incidence of strabismus is 39%～50% and nystagmus is 9.5%. Periventricular leukomalacia, introventricular hemorrhage and low birth weight are risk factors of visual dysfunctions in cerebral palsy.

Abstract: objective 2+- Toinvestigatethecorrelationbetween geneticpolymorphismofplasmamembraneCa ATPaseisoform2 PMCA2 - Methods ( )andsusceptibilitytonoise inducedhearingloss(NIHL). Atotalof228workerswithNIHLwereselectedas the case group by simple random sampling method,and 230 normal hearing workers with similar age,length and level of noise exposure were selected as the control group.DNA was extracted from peripheral blood of workers of the two groups,and single PMCA2 Results nucleotidepolymorphism (SNP)of wasgenotypedbyMassArraysystem. Theallelefrequenciesofrs1719571 PMCA2 - P and rs14154 of gene in the control population were consistent with Hardy Weinberg equilibrium (both >0.05). There was no significant difference in the distribution of rs1719571 and rs14154 genotypes and allele frequencies between the two P groups(all >0.05).LogisticregressionanalysisshowedthattheriskofNIHLinGAgenotypeofrs1719571waslowerthanthat-P in GG genotype (odds ratio=0.53, 95% confidence interval=0.31 0.90, <0.05), after excluding the effects of age, length of exposure to noise, intensity of exposure to noise, smoking and alcohol consumption. The genotype of SNP rs14154 might not P Conclusion PMCA2 contribute to the genetic susceptibility of NIHL( >0.05). The SNP of rs1719571 is associated with the susceptibilityofNIHL,andGAgenotypemaybeapotentialprotectivefactorforNIHL.

Objective To discover the mutations of rare thalassemia genes by sequencing of α and β-globin genes,to understand the frequency of rare mutations and to enrich thalassemia gene mutation spectrum in Chinese population.Methods For the cases of phenotype and genotype inconsistent,the 1st generation of sequencing was performed for α or β-globin gene coding region sequence analysis.Results A total of 102 patients with rare thalassemia gene mutations were found by sequencing,including 79 cases of β-thalassemia with 35 kinds of mutant types,and 23 cases of α-thalassemia with 11 kinds of mutant types.Conclusion The thalassemia gene sequencing could reveal rare mutations in genes,identify the genotype of patients,provide important support for prenatal diagnosis of rare thalassemia families,and reduce the missing rate and birth rate of children with thalassemia.

Aim To observe the protective effects of breviscapine against lung fibrosis and investigate its possible mechanism.Methods Effects of breviscapine on cell proliferation,activation and extracellular matrix secretion were examined in mouse embryonic lung fibroblast L929 cells in vitro.The mouse model of bleomycin-induced lung fibrosis was used to assess the protective effect of breviscapine against lung fibrosis.Results In vitro,breviscapine had no cytotoxicity directly on L929 cells,however,it could suppress cell proliferation,activation and secretion of laminin(LN) and collagen Ⅰ(ColⅠ) induced by transforming growth factor beta1(TGF-?1) in L929 cells.In vivo,breviscapine could prevent increase in serum TGF-?1 and decrease in superoxide dismutase(SOD),peroxidase(POD) and catalase(CAT) in mice with lung fibrosis caused by bleomycin.In addition,breviscapine was able to reduce pulmonary hydroxyproline,collagen,malondialdehyde(MDA)and TGF-?1 in lung fibrosis mice.Conclusion Breviscapine has protective effect against lung fibrosis and the possible mechanism is to enhance antioxidative defense activities and prevent TGF-? signal.

Objective To analyze the magnetic resonance imaging(MRI)features of multiple sclerosis(MS)patients both in the brain and the spinal cord and to explore its relationship with factors such as quality of life,disability of MS patients and so on.Methods A total of 170 MS patients confirmed clinically underwent MRI examination and answered the questionnaires of Multiple Sclerosis Quality Of Life-54 instrument,Expanded Disability Status Scale,Hamilton Anxiety Scale and Hamilton Depression Scale.Results The lesions on brain MRI were usually seen in the white matter around the lateral ventricles,the centrum ovale majus and frontal lobe.The commonly seen length of the single lesions on the spinal cord was as long as that of 1-2 vertebral bodies,but that of the fused lesions was as long as that of 4-5 vertebral bodies.The distribution of the lesions was significantly correlated with the quality of life,the degrees of the disability,anxiety and depression.Conclusion MRI examination is useful for early and better diagnosis of MS and can provide guidance for treatment,and thus can improve the prognosis and the quality of life of patients.

Objective To investigate changes in serum levels of antinuclear antibody(ANA), anti?double?stranded DNA(dsDNA)antibody and anti?extractable nuclear antigen(ENA)antibody before and after anti?tumor necrosis factor?α(TNF?α)therapy in psoriatic patients. Methods Clinical data obtained from 32 patients with psoriasis were analyzed retrospectively. Of the 32 patients, 13 received intravenous injection of 5 mg/Kg infliximab at week 0, 2, 6 for 3 sessions, then once every 8 weeks(infliximab group), while other 19 received subcutaneous injection of 25 mg etanercept twice every week(etanercept group). The treatments in the 2 groups both lasted more than 3 months. Serum levels of ANA, anti?dsDNA antibody and anti?ENA antibody and changes of clinical symptoms were detected and observed respectively before each treatment in the infliximab group, as well as every 3- 6 months in the etanercept group. The 75%reduction in psoriasis area and severity index(PASI75)and disease activity score of 28 joints(DAS28) were used to evaluate clinical efficacy. Serum levels of ANA, anti?dsDNA antibody and anti?ENA antibody were measured by indirect immunofluorescence(IIF)assay, Western blot analysis combined with enzyme?linked immunosorbent assay(ELISA), and Western blot analysis, respectively. Results After 3?month treatment, the 32 patients achieved clinical remission to different extents. Of 32 patients receiving anti?TNF?αtherapy, 7(21.9%)developed new autoantibodies. Concretely speaking, 4 patients in the infliximab group developed autoantibodies in 8.3 ± 5.1 months, including 3 cases positive for ANA and 3 for anti?ENA antibody. Three patients in the etanercept group developed autoantibodies in 9.0 ± 3.0 months, including 3 cases positive for ANA and 1 for anti?ENA antibody. Conclusion Partial patients with psoriasis may develop autoantibodies after anti?TNF?αtherapy.

ObjectivesTo explore the roles of mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH) and hemoglobin A2 (HbA2) in the laboratory screening of thalassemia,and to find optimal screening modality for different conditions.Methods From September 2008 to May 2011,1384 subjects underwent thalassemia screening at Department of Obstertrics andGynecology of Nanfang Hospital.Of them,1036 cases were diagnosed with thalassemia (408 α-thalassemia,608 β-thalassemia,and 20 αβ compound thalassemia,thalassemia group) and 348 without thalassemia,non-thalassemia group.All subjects were screened respectively for MCV,MCH and HbA2.Analyses were performed in all subjects to assess the sensitivity,specificity,positive predictive value,negative predictive value and diagnostic accuracy respectively associated with MCV,MCH and HbA2 alone,combination of MCV and MCH,and combination of MCV,MCH and HbA2.Results( 1 ) In the thalassemia group,the sensitivity of MCV alone was 92.9％ (379/408) for α thalassemia,99.3％ (604/608) for β thalassemia and 100.0％(20/20) for αβ compound thalassemia.In the non-thalassemia group,the specificity of MCV alone was 75.0％ (261/348).(2) In the thalassemia group,the sensitivity of MCH alone was 92.9％ (379/408) in α thalassemia,99.0％ (602/608) in β thalassemia and 100.0％ (20/20) in αβ compound thalassemia.In the non-thalassemia group,the specificity of MCH alone was 72.7 ％ (253/348).(3) The sensitivity of Hb A2 alone was 67.4％ (275/408) for α thalassemia,97.5％ (593/608) for 3 thalassemia,and 100％ (20/20) for α3 compound thalassemia while it's specificity was 72.4％ (252/348) in the non-thalassemia group.(4)With positive indexes of MCV,MCH and MCV + MCH,when HbA2 ＞ 3.5％ it had a high value in [β-thalassemia screening,but when HbA2 ＜ 2.5％ it had little value in α-thalassemia screening.(5) As a single marker,MCV and MCH had better sensitivity,specificity,positive predictive value,negative predictive value and diagnosis accuracy than HbA2.MCV + MCH was the best for overall screening,but for [β thalassemia screening,MCV + MCH + HbA2 was the best.ConclusionsMCV and MCH are suitable for epidemic screening in a large population,physical examination and premarital check-up.Hb electrophoresis andthalassemiagenediagnosisarerecommendedforsubjectswithpositiveMCVandMCH indexes.Diagnoses of α and β-thalassemia gene are recommended for pregnant women with positive MCV and MCH indexes.

Objective To summarize the geographical distribution,phenotype and genotype data of 206 thalassemia families underwent prenatal diagnosis to provide information for clinical genetic counseling and avoid the birth of severe thalassemia children.MethodsTotally,206 thalassemia families were collected from Southern Medical University Nanfang Hospital from January 2008 to December 2009.Genomic DNA was extracted from peripheral blood,villus,amniotic fluid or cord blood from the couples or the fetuses.Gap-polymerase chain reaction (gap-PCR) and reverse dot blot (RDB) technology were used to detect the common α and β-thalassemia mutations.DNA sequencing was used to detect the rare mutations.Follow-up visit were done half a year after the fetuses were born. Results The 206 thalassemia families came from 12 provinces and areas across China,including Heilongjiang province.Mutations detected in α-thalassemia families included --SEA/,-α3.7/,-α4.2/,αCS α/ and αQS α/,which were all included in the testing kit. While there were 4 kinds of β-thalassemia mutations,Gγ+ (A γδβ)0,-28(A→C),CD54-58(-TATGGGCAACCCT) and CD37(G→A),could not be identified with routine testing kit. The 57 α-thalassemia families consisted of 11(19.3％) severe thalassemia,induding 8 Bart's hydrops syndrome and 3 Hb H disease,26(45.6％) heterozygote and 20(35.1％) normal infants,and the 149 β-thalassemia majors families consisted of 28 (18.8％) severe thalassemia,82(55.0％) heterozygote and 39 (26.2％) normal infants.Among the β-thalassemia heterozygotes,there was one 13-trisomy.Follow-up visit found that babies with Bart ' s hydrops syndrome (n =8),Hb H disease (n =3),β-thalassemia majors (n =28) and β thalassemia heterozygote combined with 13-trisomy(n=1) were aborted.Conclusions Thalassemia was found in some north area other than south of China,which should be paid more attention by clinicians.Gap-PCR and PCR-RDB technology are effective measures for thalassemia prenatal diagnosis in identifying major thalassemia fetuses before their birth,thus reduce the birth rate of thalassemia baby.But missed diagnosis might exist during the screening,so it is necessary to perform DNA sequencing on those patients with positive symptoms and negative common genetic diagnostic results.At the same time,prenatal diagnosis of chromosomal disorders should not be neglected for high-risk families.

Objective To establish HPLC characteristic spectrum of Polygonum Capitatum from GAP planting base, and provide reference for the overall quality control of Polygonum Capitatum. Methods HPLC analysis was performed on a DiamonsiL C18 chromatographic column (250 mm× 4.6 mm, 5μm) with the eluting system of gradient consisted of methanol and 0.2% H3PO4. The flow rate was 1.0 mL/min. The column temperature was maintained at 25℃ and the detection wavelength was at 254 nm.Results HPLC characteristic spectrum of Polygonum Capitatum samples from 10 different areas was established, which contained 11 common peaks, and the similarities of comparative results were over 90%.Conclusion The established method can be used to determine the characteristic spectrum of Polygonum Capitatum and can provide a basis for the overall quality control and quality standards of Polygonum Capitatum.