OBJECTIVETo explore the clinical value of the neonatal hearing combined with deafness gene screening.METHODSFrom February 2014 to August 2015, 1933 newborns were included in the study. We analyzed the effects of combined screening of hearing and deafness gene.RESULTSAmong all the 1933 neonates, 71.34% (1379/1933) passed and 28.66% (554/1933) failed the initial hearing screening.The hearing impairment rate was 4.14‰ (8/1933). Genetic screening mutation rate was counted. GJB2 mutation rate was 28.97‰ (56/1933). SLC26A4 mutation rate was 13.97‰ (27/1933). GJB3 mutation rate was 6.21‰ (12/1933). Mitochondrial 12 S rRNA gene mutation rate was 1.03‰ (2/1933). 1 case of 235 delc homozygous mutation did not pass the initial hearing screening and lost to follow-up rescreening. 2 cases of 12 S rRNA 1555A>G homogeneous mutations passed early hearing screening. 8 cases of auditory handicaps were all normal.CONCLUSIONDeafness gene screening can make up for the deficiencies of the universal newborn hearing screening. Joint use of both of them should complement each other and play the biggest role.

Objective To investigate the awareness of osteoporosis and to evaluate the effect of related health education among Beijing community residents.Methods Total 1 000 patients,who visited in 4 community health service centers in Beijing from June to December 2011,were selected as study participants.The questionnaire survey on the awareness of osteoporosis was conducted in all participants,and the items of questionnaire included the risk factors,symptoms,prevalence of osteoporosis,the recommended daily calcium intake and risk of falls.Five hundred participants in 2 health service centers were designated as intervention group and 500 in another health service centers as control group.In intervention group the health education of osteoporosis was conducted every 2 to 3 months and the outpatient follow-up was provided every 2 months;the contents of health education included the clinical manifestation,prevention and control of osteoporosis,and the preveution of fall.In control group only the general outpatient consultation and referral were provided.The second questionnaire survey was conducted 2 years after intervention,the results were compared with baseline and the intervention effect was evaluated.Results Before intervention,58.0％ (580/1 000) participants had exercise,43.1％ (431/1 000) participants took calcium supplement and vitamin D,and 12.1％ (121/1 000)took medication following doctor's advance.The rates of fall prevention and administration of calcium vitamin D in intervention group before intervention [27.8％ (139/500) and 38.7％ (194/500)] were lower than those in control group [33.8％ (308/500) and 47.5％ (237/500)].After two-years of intervention the adoption rate of health behavior in intervention group was improved markedly,the highest one was diet control [increased by 38.4％ (192/500)] and the lowest one was medication [increased by 17.3％ (87/500)].Compared to control group the diet control rate in intervention group was significantly higher [74.0％ (370/500) vs.23.6％ (108/457),x2 =261.887,P=0.000].In addition,unhealthy behaviors were also reduced:55.0％ participants reduced caffeine consumption and 72.2％ participants reduced sodium intake in intervention group.Conclusion The awareness of osteoporosis among Beijing community residents is not satisfactory,but intervention focusing on osteoporosis prevention education is effective to change their behavior.

Objective To evaluate the effect of dexmedetomidine on the quality of intraoperative wake-up test in the patients undergoing balloon occlusion test of the internal carotid artery.Methods Forty-two patients of either sex with intracranial aneurysm,aged 57-78 yr,weighing 53-86 kg,of American Society of Anesthesiologists physical status Ⅱ or Ⅲ,scheduled for elective balloon occlusion test of the internal carotid artery under general anesthesia,were assigned into 2 groups (n =21 each) using a random number table:propofol conbined with remifentanil group (group PR) and dexmedetomidine combined with propofol and remifentanil group (group DPR).In group DPR,dexmedetomidine was intravenously infused over 15 min in a loading dose of 0.5 μg · kg-1 before induction of anesthesia,followed by an infusion of 0.3 μg · kg-1 · h-1 throughout surgery.Propofol and remifentanil were given by target-controlled infusion (TCI) after infusion of the loading dose.The patients were mechanically ventilated after placement of the laryngeal mask airway.Maintenance of anesthesia was as follows:propofol and remifentanil were given by TCI with the target plasma concentrations of 0.5-1.0 μg/ml and 1-3 ng/ml,respectively,in group DPR;propofol and remifentanil were given by TCI with the target plasma concentrations of 3-5 μg/ml and 3-6 ng/ml,respectively,in group PR.Bispectral index (BIS) value was maintained at 40-60.Before wakeup test,propofol infusion was stopped and the target plasma concentration of remifentanil was decreased to 0.5 ng/ml in two groups,and the infusion rate of dexmedetomidine was decreased to 0.1 pg · kg-1 · h-1 in group DPR.The wake-up time was recorded and the wake-up quality was assessed.After admission to the operating room (T0,baseline),at 10 min before wake-up test (T1),immediately after patients were wakened (T2),at 10 min after patients were wakened (T3) and at the end of wake-up test (T4),the mean blood pressure (MAP),heart rate,respiratory rate (RR),SpO2 and BIS values were recorded.The development of intraoperative awareness,emergence time,postoperative agitation,nausea and vomiting,regurgitation and aspiration and severe pain was recorded.Results MAP,heart rate,SpO2 and RR were all within the normal range during wake-up period in two groups.Compared with the baseline at To,MAP was significantly decreased at Ti,3,4 in group PR,and BIS value was decreased at T1-4 in DPR and PR groups (P＜0.05).Compared with group PR,MAP was significantly increased at T1.3,BIS value was decreased at T24,the wake-up time was shortened,Ramsay sedation score and wake-up quality were increased,the emergence time was shortened,and the incidence of agitation was deceased (P＜0.05),and no significant change was found in verbal rating scale scores assessed after extubation in group DPR (P ＞ 0.05).No cardiovascular events,respiratory depression,intraoperative awareness,postoperative nausea and voniting,regurgitation and aspiration or severe pain was found in two groups.Conclusion Dexmedetomidine can raise the quality of intraoperative wake-up test in the patients undergoing balloon occlusion test of the internal carotid artery.

Objective To study the anti-tumor effects of alcohol extraction of Coix stalk objects on H22 tumor-bearing mice. Methods The animal model of tumor bearing mice with H22 ascitic tumor cells was established. Eighty-four model mice were randomly and equally divided into Coix stalk extract groups 1-5 (10, 8, 6, 4 and 2 g/kg), model control group and cyclophosphamide group. Mice were treated orally with Coix stalk alcohol extraction solution (10, 8, 6, 4 and 2 g/kg), cyclophosphamide 0.02 g/kg and normal saline once a day for 8 days for Coix stalk extract group, cyclophosphamide group and model control group. The mouse activity, the size and the appearance of time of abdominal swelling, and changes of hair, feeding and drinking water quantity were observed in groups of mice. The solid tumor mass was measured in H22 tumor-bearing mice. The tumor inhibitory rate, liver index, spleen index and thymus index were calculated. Results The axillary tumor muster was found first in model control group with the fastest growth, reduced independent activity, decreased appetite and dim in hair color, followed by the Coix stalk extract group 1 and group 2. The last was Coix stalk extract group 5 and cyclophosphamide group. The solid tumor mass were (0.47±0.18), (0.37± 0.13), (0.34±0.10), (0.30±0.11) and (0.28±0.09) mg for Coix stalk alcohol extract groups 1-5, which were significantly lower than those of model control group (0.60 mg±0.21 mg, F=5.700,P<0.05). The tumor inhibition rates were 21.67%, 38.33%, 43.33%, 50.00%, 53.33%and 60.00%in Coix stalk extract groups 1-5 and cyclophosphamide group. The liver index, spleen index and thymus index were lower in cyclophosphamide group and Coix stalk alcohol extract groups than those of model control group (except for the spleen index of Coix stalk extract group 1). The liver index was lower in Coix stalk ethanol extract groups than that of cyclophosphamide group. There were no significant differences in the spleen index, thymus index between Coix stalk ethanol extract groups and cyclophosphamide group. Conclusion Coix stalk alcohol extract has inhibitory effects on the tumor and liver damage in H22 mice.

Objective The concentration of NE and TNF-α was detected for elucidating the change of them in sera and bronchoalveolar lavage fluid (BALF) of rabbits with acute lung injury interposed by XueBiJing therapy in underwater explosion.Methods Underwater explosion decive was applied to cause acute lung injury of rabbits.The 20 rabbits were randomly divided into two groups which were injury group and XueBiJing therapy group,respectively.The concentration of NE and TNF-α in sera and BALF were detected by ELISA method in 24 hours after bursting.Results The concentration of TNF-α in sera (353.30±166.86 ng/L) of rabbits in therapy group were significantly lower than those in injury group (552.30± 169.64 ng/L;t=2.645,P =0.016).The concentration of NE in sera (63.40 ± 36.09 ng/ml) were lower than that of rabbits in injury group (97.60 ± 36.20 ng/ml;t=2.116,P=0.049).At the same time the concentration of NE in BALF (102.10± 9.50 ng/ml) of rabbits in therapy group were significantly lower than those in injury group (136.70± 13.60 ng/ml;t=6.593,P=0.000).Conclusion The expression of TNF-α in sera and NE in sera and BALF in rabbits with acute lung injury interposed by XueBiJing in underwater explosion were lower than those of injury group.

Objective:To investigate the protective effects and possible mechanisms of cortex phellodendri water extract and etha -nol extract on the myocardial injury induced by pituitrin and isoproterenol hydrochloride in rats .Methods:SD rats as the experimental animals were randomly divided into the normal control group , model group , compound Danshen tablets group , phellodendron water ex-tract group and phellodendron ethanol extract group .Pituitrin and isopropyl adrenaline hydrochloride were used to establish the myocar-dial injury model in rats.The serum CK, LDH activity, myocardial tissue SOD activity and MDA content were detected and compared . Results:Compared with those in the normal control group , the serum LDH activity , CK activity and MDA content were significantly in-creased , and the SOD activity in cardiac muscle and myocardial tissue was significantly decreased in the pituitrin -established myocardi-al injury model group (P<0.01).In the isopropyl adrenaline hydrochloride-established myocardial injury model group , the MDA con-tent in myocardial tissue was obviously increased , and the SOD activity in myocardial tissue was decreased obviously (P<0.01).The serum LDH activity, CK activity and MDA content were significantly decreased , and the SOD activity in cardiac muscle and myocardial tissue was increased significantly in all drug-taken groups when compared with those in the pituitrin-established myocardial injury model group, and the differences were statistically significant (P<0.05 or P<0.01).The MDA content in myocardial tissue was significant-ly reduced , and the SOD activity was increased significantly in all drug-taken groups when compared with those in the isopropyl adrena-line hydrochloride-established myocardial injury model group , and the differences were statistically significant (P<0.05 or P<0.01). Conclusion:Cortex phellodendri extract has certain protective effect on myocardial injury induced by pituitrin and isopropyl adrenaline hydrochloride in rats .

Objective: To explore the clinical features and molecular basis for a child featuring infantile epilepsy and developmental disorders. Methods: Clinical data and peripheral blood samples of the child and his parents were collected. The coding regions of genes associated with nervous system development were subjected to target region capture sequencing. Results: The child developed generalized spasm at 3 months and was diagnosed with epilepsy at 6 months of age. He was treated with Depakin but was diagnosed with mental retardation and developmental retardation at 3 years of age. A novel heterozygous c. 3842T>G variant of the SYNE1 gene was detected. His father was found to carry the same variant and had a history of convulsions in infancy but with no mental or developmental anomalies. Conclusion A novel variant of SYNE1 gene was identified in this child, and the prognosis may be poor.

OBJECTIVE: To explore the genetic basis for a child featuring delayed intellectual development. METHODS: The child and his parents were subjected to conventional G-banding karyotyping and single nucleotide polymorphism array (SNP-array) analysis. Suspected copy number variations (CNVs) were verified in both parents. RESULTS: No karyotypic abnormality was found with the child and his parents. SNP-array results for both parents were normal. The child was found to harbor a de novo 172 kb deletion at 18q21.2 with a physical position of 52 957 042-53 129 237. The deletion only involved one OMIM gene, namely TCF4, resulting in removal of its exons 6 to 8. CONCLUSION The SNP-array assay has facilitated with the diagnosis of this child. Deletion of 18q21.2 region probably accounts for the Pitt-Hopkins syndrome (PTHS) in this patient.
Child ; Chromosome Deletion ; Chromosomes, Human, Pair 18 ; genetics ; DNA Copy Number Variations ; Developmental Disabilities ; genetics ; Facies ; Humans ; Hyperventilation ; genetics ; Intellectual Disability ; genetics ; Phenotype ; Transcription Factor 4 ; genetics

One hundred Alzheimer′s disease (AD) patients with behavioral and psychological symptoms of dementia (BPSD) treated with donepezil+risperidone group ( n=50, group 1) or hydrochloride memantine+risperidone group ( n=50, group 2) in geriatric departments of Hangzhou Seventh People′s Hospital were enrolled in the study. Montreal cognitive assessment scale (MoCA), positive and negative syndrome scale (PANSS), treatment emergent symptom scale (TESS) were applied for evaluation; and blood routine examination, blood biochemistry, eletrocardiogram were performed in two groups before and after treatment. After treatment, MoCA score in group 2 (16.10±3.90) was significantly higher than that in group 1 (18.14±3.71)( t=-3.99, P<0.01), and PANSS score in group 2 (86.66±6.62) was significantly lower than that in group 1 (109.50±11.51; t=12.67, P<0.01). The incidence rates of dry mouth (16%,8/50), extrapyramidal side effects (10%,5/50) and the total score of TESS (3.92±2.02) in group 2 were markedly lower than those of group 1 [44%(22/50), 36%(18/50), (12.49±1.45);χ 2=9.33,9.54, t=17.90,all P<0.01]. Meanwhile, group 2 had significantly lower influences on the levels of blood lipids and fasting blood glucose (all P<0.01). The risperidone dose used in group 2 was significantly lower than that in group 1 [(2.06±0.50) vs. (3.85±0.89)mg, t=14.40, P=0.04].The results suggest that hydrochloridememantine combined with risperidone is more effective with less side effects compared to donepezil combined with risperidone for AD patients with BPSD.

Objective To investigate the role of TIM4 (T cell immunoglobulin and mucin domainmolecule 4) in the pathogenesis of allergic rhinitis (AR) in mice,and to identify a novel therapeutic target for the treatment of AR.Methods Twenty-one male BALB/C mice of clean grade were divided into three groups randomly (n =7 per group) including control,AR and anti-TIM4 antibody treatment groups.In order to induce upper airway allergic inflammation,the mice from AR and anti-TIM4 antibody treatment groups were sensitized by intraperitoneal injection followed by intranasal challenge with ovalbumin.Before the ovalbumin challenge,a group of mice was treated with anti-TIM4 antibody.To assess the AR model,behavioral observation with immunological assessments and HE staining of nasal tissues were performed.The TIM4 expression in nasal tissues in different groups of mice were assessed by immunofluorescence and RTPCR.SPSS18.0 software was used to analyze the data.Results The AR model in mice was successfully established as shown by behavioral observation and immunological evaluation.RT-PCR assays showed the relative expression of TIM4 mRNA in nasal mucosa of AR,control and anti-TIM4 antibody treatment mice was 16.29 ±3.80,0.51 ±0.60,1.64 ±0.98,respectively.There was statistically significant differencea mong three group (F =46.56,P ＜ 0.05).The expression of TIM4 in AR group was significantly higher than those in control group (t =8.650,P ＜ 0.05) and anti-TIM4 group (t =8.027,P ＜ 0.05).The expression of TIM4 was significantly reduced in the anti-TIM4 antibody group,as well as control group (t =-0.623,P ＞ 0.05).More expression of TIM4 was detected in local nasal tissues of AR mice,mainly located below the pseudostratified ciliated columnar epithelium.Conclusions TIM4 plays a crucial role in the pathogenesis of AR.Effective inhibition of TIM4 expression can partially reverse the pathological changes of AR.