Background Congenital cataract is a major cause for blindness of childhood.Genetic gene mutation accounts for almost 1/3 of congenital cataract patients.The most common inheritance type is autosomal dominant congenital cataract (ADCC).Over 100 mutations in 26 genes have been found to be associated with ADCC.Objective This study was to identify the disease-causing gene mutation in a family with ADCC.Methods This study was approved by Ethic Committee of Beijing Tongren Hospital and followed Declaration of Helsinki.A northern Chinese family with autosomal dominant congenital nuclear cataract was entrolled in Beijing Tongren Hospital in January 2011.Ocular examinations were performed and periphery blood specimens were collected from each family member under the informed consent.Genomic DNA was extracted.Twenty-one microsatellite markers around 17 ADCC genes were selected for linkage analysis,and two-point LOD score was calculated.CRYGC gene and CRYGD gene were amplified and screened for mutations using direct sequencing.ProtScale software was used to analyze the changes of hydrophobicity of the mutated protein.Co-segregation of the observed change with the disease phenotype was further detected by restriction fragment length polymorphism (RFLP).Results This family included 20 members of 4 generations,and 9 patients were examined in serial 4 passages,which conformed to autosomal dominant inheritance pattern.Clinical examination revealed binocular congenital nuclear cataract in the 9 patients.Maximum two-point LOD score was 4.68 at marker D2S325 (θ=0).A known T→C change at position 127 of cDNA sequence was found by mutations screening of CRYGD gene.ProtScale programs showed an obvious increase of the local hydrophobicity in the mutant protein.RFLP results indicated that this missense mutation co-segregated with affected members of the family,but was absent in unaffected members and 100 unrelated controls.Conclusions c.T127C mutation of CRYGD gene appears to be the molecular pathogenesis of this ADCC family.Aberrant structure of mutant CRYGD protein caused by hydrophobicity change may lead to opacification of lens.

Objective To explore the efficacy and safety of infliximab (IFX) treatment in inducing and maintaining deep remission (DR) in patients with moderate to severe Crohn's disease (CD).Methods From February 2012 to April 2014,the clinical data of 26 patients with moderate to severe CD received IFX treatment were retrospectively analyzed.Laboratory indexes (erythrocyte sedimentation rate (ESR),C-reactive protein (CRP),albumin),Crohn's disease activity index (CDAI),Crohn's disease simplified endoscopic score (SES-CD),rate of DR and side effects were observed before treatment,at week 14 and week 30.The t test was performed for normal distribution measurement data comparison between two groups.Wilcoxon signed rank test was performed for non normal distribution measurement data comparison between two groups.Chi square test and Fisher exact probability method were used for rate comparison.Results In 26 patients with CD,at week 14,the CDAI significantly decreased compared with that before treatment (225.0(124.0,265.0) vs 80.0(67.0,124.7),Z=-4.265,P＜0.01); ESR and CRP levels also significantly decreased while body mass index (BMI) and albumin levels increased.The rate of clinical remission,mucosal healing under endoscope and DR was 80.0 ％ (21/26),42.3 ％ (11/ 26) and 34.6％ (9/26),respectively.The rate of clinical remission was higher in patients with the disease course less than one year (92.3％ vs 69.2％,P=0.32).At week 30,the CDAI of patients significantly decreased compared with that before treatment (225.0(124.0,265.0) vs 81.5(67.0,111.0),Z=-4.877,P＜0.01); the ESR and CRP levels significantly decreased; while the BMI and albumin levels increased.The rate of clinical remission,mucosal healing under endoscope and DR was 88.5 ％ (23/26),57.7％(15/26) and 53.8％ (14/26),respectively.Rate of clinical remission was higher in patients with the disease course less than one year (100.0％ vs 76.9％,P=0.22).The differences in the rates of clinical remission,mucosal healing and DR between week 14 and week 30 were not statistically significant.Conclusion IFX could induce and maintain DR in patients with moderate to severe CD.

Objective:To evaluate the clinical efficacy of hydrotherapy in the treatment of children with spastic cerebral palsy (CP).Methods:The China National Knowledge Infrastructure, Wanfang databases, CQVIP databases, PubMed and the Cochrane library were electronically searched for reports published before November 2018 of randomized and controlled trials (RCTs) of hydrotherapy for treating children with spastic CP. Two researchers screened the literature independently, extracted data and assessed the risk of bias in the included studies. The meta-analysis was performed using version 5.3 of the RevMan software.Results:A total of 6 RCTs were included, covering 464 patients. It was found that hydrotherapy combined with conventional rehabilitation was significantly more effective than conventional rehabilitation alone.Conclusions:It has been proved that hydrotherapy can improve the symptoms of children with spastic CP, relieve their spasticity and promote better motor function.

Aim To explore the role of AMPK/ PGC-1α pathway in cardioprotection of hydrogen sulfide ( H2 S ) against ischemia/reperfusion ( I/R ) injury. Methods Langendorff perfusion apparatus was used to build an isolated rat myocardial I/R model. Seventy-two male SD rats were randomly divided into 6 groups (n=12):control group (Control), ischemia/reperfu-sion group ( I/R ) , DMSO group ( DMSO ) , inhibitor Compound C group ( CC) , H2 S postconditioning group ( NP) , and H2 S with Compound C group ( N +C ) . The heart rate ( HR ) , the left ventricular developed pressure ( LVDP ) , the maximum rate of increase or decrease of left ventricular pressure ( ± dp/dtmax ) and the left ventricular diastolic pressure ( LVEDP ) were registered at 20 min of baseline and 60 min of reperfu-sion separately. Triphenyl tetrazolium chloride ( TTC) staining and HE staining were used to determine the myocardial infarct size and the myocardial tissue mor-phological change of each group was observed respec-tively. Immunohistochemistry was used to determine the expression of PGC-1α. The expressions of total AMPK ( tAMPKα ) , phosphorylated AMPK ( pAMPKα) and PGC-1α were detected with Western blot anaylsis. Results There were no differences in e-quilibrium hemodyamics observed between the experi-mental groups(P>0. 05). At the end of reperfusion, compared with I/R group, NP group had obviously a-meliorated functional recovery and significantly de-creased myocardial infarct size [ ( 23. 9 ± 3. 4 )% vs (60. 9 ± 3. 8 )%, ( P <0. 05 ) ] . HE staining showed that in NP group, the myocardial injury was reduced. Meanwhile, the expression of pAMPKα and PGC-1αincreased significantly. However, Compound C re-versed the cardioprotection effects provided by hydro-gen sulfide postconditioning and reduced the expression of pAMPKαand PGC-1α. Conclusion AMPK/ PGC-1α pathway is involved in the role of hydrogen sulfide against ischemia/reperfusion injury.

Objective To assess the characteristic of normal tension glaucoma (NTG) patients with mild cogni?tive impairment (MCI). Methods This study included twenty-six cases of normal tension glaucoma patients who were diagnosed at ophthalmology department of Peking University Third Hospital. All the participants were examined by us?ing the scales of Montreal Cognitive Assessment (MoCA), mini-mental state examination(MMSE), clinical dementia rat?ing (CDR), activities of daily living (ADL), Hamilton anxiety scale (HAMA), Hamilton depression scale (HAMD), Pitts?burgh Sleep Quality Index (PSQI) and polysomnography (PSG). The patients were then divided into Group with MCI (16 cases) and Group without MCI (19 cases). Results There was no difference between the two groups in gender, age, edu?cation, depression, anxiety and body mass index (BMI) (P>0.05), but significant difference in MoCA scores (P<0.05). The incidence rate of sleep disorder of PSQI in was 28.6%(10/35 patients) of total NTG patients, 43.8%(7/16 patients) in Group with MCI, and 15.8% (3/19 patients) in Group without MCI, respectively. The PSQI score was higher in Group with MCI than in Group without MCI (P<0.05). Sleep efficiency was higher in Group without MCI than in Group with MCI (P<0.05), but no difference was found between the two groups in six other indexes of PSQI (P>0.05). The in?cidence rate of sleep structure disorder of PSG in all the NTG patients was 85.7%(30/35 patients), 87.5%(14/16 pa?tients) in Group with MCI, and 84.2%(16/19 patients) in Group without MCI. Sleep time of NREM-N3 was significant?ly shorter in Group with MCI than in Group without MCI (P<0.05), but no difference was found between those groups in total sleep time, sleep efficiency, sleep latency and REM time (P>0.05). Conclusion NTG patients with mild cogni?tive impairment are more prone to sleep disorders, especially sleep structure disturbance and short NREM-N3 time may affect cognitive function.

OBJECTIVE To study the roles of copper transporter 1 (CTR1 )and Cu2 + transporting ATPase αpolypeptide (ATP7A)in lead exposure-induced copper accu mulation and oxidative stress in rat C6 glio ma cells.METHODS Methyl thiazolyl tetrazoliu m (MTT)assay was performed to determine the proper Pb doses (without affecting cell viability)by treated the cells with lead acetate 0 -100 μmol·L -1 for 24 h and 48 h.Superoxide dis mutase (SOD)activity or malondialdehyde(MDA)level were detected respectively by xanthine oxidase technique and thiobarbituric acid (TBA) method.Ato mic absorption spectrophoto metry was e mployed to determine the intracellular levels of Pb and Cu ions.Real-ti me quan-titative PCR and Western blot were used to detect the mRNA and protein levels of CTR1 and ATP7A, respectively.RESULTS The cell viability significantly decreased when the doses of Pb treat ment was higher than 10 μmol·L -1 ,so 10 μmol·L -1 was chosen as a working concentration of Pb exposure in this study.Co mpared with those in the normal controls,a moderately decreased T-SOD activity and an increased MDA level was determined in the cells treated with Pb 10 μmol·L -1 or Cu 5 μmol·L -1 alone, while a significant drop of T-SOD activity and a re markable increase of MDA level was found in the cells co-exposed to Pb and Cu (P<0.01 ).Pb exposure for 24 and 48 h increased the cellular Cu uptake by 1 .2 and 2.5 fold,respectively (P <0.01 ).Evidences fro m RT-PCR showed that Pb exposure for 24 and 48 h upregulated the CTR1 mRNA level by 23.2% and 58.7%,and downregulated the ATP7A mRNA level by 58.1 % and 50.0%,respectively.Results fro m Western blot confirmed that Pb exposure also resulted in an increased CTR1 expression and a decreased ATP7A expression at protein level (P<0.01 ).CONCLUSION Pb exposure lead to Cu accu mulation,by affecting the expression levels of CTR1 and ATP7A,and increased oxidative stress in C6 cells.

Objective To evaluate the value of polymerase chain reaction (PCR) combined with probe detection method in diagnosis of Mycoplasma pneumonia (MP) pneumonia (MPP) in children and to analyze the factors influencing the diagnostic accuracy,and to identify the rate of MP mutation for drug resistance and the involving factors.Methods Two hundred and twenty-five children with MPP hospitalized in the Department of Respiratory Medicine,Beijing Children's Hospital,Capital Medical University between June 2015 and March 2016 were enrolled in this study.Nasopharyngeal swab samples from the participants within 24 hours of admission were detected by using PCR combined with fluorescence probes for MP-DNA and macrolide-resistant mutations.The information of age,sex,clinical symptoms,course of disease,duration by admission,the history of macrolide treatment and the increase or decrease of quadruple or more serum MP antibody titer were extracted from medical records within 4 weeks of treatment,which received further correlation analysis with the detection rate of MP-DNA and the drug resistance mutation.Results The sensitivity of the MPP by using the method of PCR combined with fluorescence probes was 80.4％ (181/225 cases),while the specificity was 98.0％ (99/101 cases).The MP-DNA positive rate for patients with double MP antibody 4 times increased during treatment was 88.8％ (71/80 cases),which was significantly higher than that of patients with antibody titer ≥1 ∶ 160 [75.9％ (110/145 cases)],and the difference was sigmficant(x =5.443,P =0.020).The positive rate of MP-DNA of patients had no obvious association with gender,age,and disease duration and macrolide treatment history before admission.Macrolide-resistant mutation rate of MP-DNA was 85.1％ (154/181 cases),macrolide-resistant mutation rate of MP for patients finishing one course of macrolide treatment when admission(89.6％)was higher than that of the patients without using macrolide and the patients treated with macrolide but not finishing one course of treatment (71.9％ and 86.6％),and the significant difference among the three groups was observed(x2 =4.454,P =0.035).Conclusions PCR combined with fluorescence probe for MP-DNA detection has a high accuracy for the diagnosis of MPP,and the overall mutation rate is high,suggesting that the clinical treatment of MPP needs to be adjusted according to drug resistance in children.

BACKGROUND: At present, most of the literature on joint replacement focus on the causes and countermeasures of long-term complications, but seldom focuses on causes of postoperative short-term complications, such as wound exudation and delayed union. Whether the incidence of sustained exudation and delayed wound healing in patients with hypertension after hip replacement is higher than that in patients with normal blood pressure is not reported at present.OBJECTIVE: To identify the correlation of hypertension with persistent wound exudation and delayed wound healing in patients after femoral head replacement.METHODS: Data of 205 elderly patients with femoral neck fractures were retrospectively analyzed. All patients underwent femoral head replacement. In accordance with the hypertension diagnostic criteria of 2010 Chinese Guidelines for the Management of Hypertension, patients were divided into hypertension group and control group.Intraoperative blood loss, postoperative blood loss, the days of prolonged wound exudation, the wound dehiscence, and the prevalence of delayed wound healing were compared between the two groups. Then, we analyzed the relationship of hypertension with wound exudation and delayed wound healing.RESULTS AND CONCLUSION: (1) The average systolic blood pressures were 153.55 mmHg and 128.82 mmHg in the hypertension and control groups, respectively (P < 0.05). (2) No significant difference in age, gender, MNA-SF score, diabetes, body mass index, intraoperative blood loss, and postoperative blood loss was found between the two groups (P > 0.05). (3) The time of persistent wound exudation was 4.03 days and 2.08 days in the hypertension group and control group, respectively (P < 0.05). (4) The prevalence of delayed wound healing was significantly higher in the hypertension group than that in the control group (P < 0.05). (5) Hypertensive patients had a higher risk of prolonged wound exudation and delayed healing than their normotensive counterparts, and the hypertension is one of the important influence factors for delayed wound healing.

OBJECTIVE To investigate the effects of N,N'-Dinitrosopiperazine (DNP) on the cell proliferation of nasal and nasopharyngeal epithelia and the expression levels of TRAF2 and p16 genes in TgN (p53mt-LMP1)/HT transgenic mice and the relationships between them.METHODS The epithelial proliferating characteristics of nasal cavity and nasopharynx in TgN (p53mt-LMP1)/HT cancerous lesion inducing group treated by DNP (TI),TgN (p53mt-LMP1)/HT controlling group (TC), C57BL/6J cancerous lesion inducing group (CI) treated by DNP and C57BL/6J controlling group (CC) were observed for pathological evaluation by HE staining,and the expression levels of TRAF2 and p16 genes in these tissue samples were determined by immunohistochemical methods.RESULTS The occurring rates of precancerous lesions in nasal and/or nasopharyngeal epithelia in TI,TC,CI and CC groups were 90%,10%,0 and 0,respectively (P

OBJECTIVE To investigate the correlation between benign paroxysmal positional vertigo (BPPV) and bone mineral density (BMD) in menopausal women with BPPV.METHODS 50 patients between the ages of 50-80 years old of menopausal women with Idiopathic benign paroxysmal positional vertigo(iBPPV)as case group,and postmenopausal healthy people of same age doing physical examinations in hospital medical examination center were selected as control group.The lumbar spine(L1-L4) and femoral neck were measured respectively using dual energy X-ray absorptiometry and expressed in T value.The case group and the control group were divided into three age groups,and the T values of three age groups were statistically analyzed.RESULTS There was significant correlation between the case group and control group(The t values are-3.68、-5.98 and-3.33,respectively,P＜0.05).Pearson correlation analysis showed that there was a negative correlation between iBPPV and bone mineral density(BMD) (r=-0.496,P＜0.05).CONCLUSION There was a correlation between benign paroxysmal positional vertigo and BMD in menopausal women.The results of this study may be helpful for the diagnosis,treatment,prognosis and precaution of iBPPV.