Infantile spasms is a type of refractory epilepsy syndrome.This epilepsy syndrome is characterized by special tonic spasms,a peculiar set of electroencephalographic findings termed hypsarrhythmia,and arrest of psychomotor development in most patients.The etiology is not clearly understood.Recently,mutations of the arista less related homeobox gene(ARX),cyclin-dependent kinase-like 5(CDKL5)/se-rine/threonine kinase 9 gene(STK9),membrane associated guanylate kinase 2 gene(MAGI2),et al,and abnormal chromosome had been found to be responsible for infantile spasms.In this review,progress of infantile spasms in molecular genetics are discussed.

Objective To explore the early manifestation of childhood autism.Methods Fifty-one childhood autism were selected as autistic group,and 40 cases of healthy children were selected as healthy control group.All children were investigated retrospectively about social competence,language development,repetitive motor actions and special interests before 18 month-old by questionnaire.All results were analyzed by SPSS 11.5 software.Results Compared with healthy control group,children in autistic group presented a series of abnormal manifestations before 18 month-old,including social competence,language development,repetitive motor actions and special interests(Pa

Gastric cancer has high heterogeneity,and the traditional histopathologic classification has a limited significance for clinical work.Along with the dramatic development of molecular detection technology,it may be much more helpful for the treatment and prognosis to use the molecular classifications.Recently,there have been many researches on the molecular classification of gastric cancer,such as Tan type,Lei type,clonality type,The Cancer Genome Atlas (TCGA) type,Asian Cancer Research Group (ACRG) type,and so on.All of these molecular classification methods have respective advantages and disadvantages.

0.05). Women with triple negative breast cancer experienced more lymph node metastases (71.9%︰58.5%,P=0.034),with the higher percentage of more than 10 lymph nodes metastases(26.0%)as compared with Her-2-overexpressing breast cancer (12.2%,P=0.034). A higher percentage of histological grade 3 was identified in triple-negative (67.7%)than in Her-2-overexpressing breast cancer(42.1%,P0.05). However,significantly poorer 5-year DFS was seen in patients with triple negative phenotype (61.85 months)than with Her-2-overexpressing phenotype (78.69 months,P=0.047). Conclusion Triple-negative breast cancers were more aggressive,and these women had poorer DFS comparing with Her-2-overexpressing ones.

Objective The association between Helicobacter pylori(H.pylori) infection and allergic diseases was controversial.The aim of this study was to investigate the association between H.pylori infection and allergic diseases.Methods A questionnaire survey regarding the general health condition and allergic diseases was carried out in patients who had taken gastroscopy at People's Hospital of Peking University from September 2015 to April 2016.H.pylori infection was detected by the H.pylori antibody,rapid urease test and gastric mucosa pathology.Results There were 1 034 patients were enrolled in this study.The rate of H.pylori infection was 20.5%(212/1 034).The frequencies of contact dermatitis,urticaria,food/drug allergy,allergic rhinitis,bronchial asthma were 6.9%(71/1 034),15.5%(160/1 034),18.0%(186/1 034),20.8%(215/1 034) and 3.4%(35/1 034),respectively.The rate of the food/drug allergy was significantly lower in the H.pylori-positive group than in the H.pylori-negative group(11.8 %(25/212) vs.19.6%(161/822),χ2=6.940,P=0.008).The risk of food/drug allergy in H.pylori-positive group was 0.611(95% CI:0.386-0.966,P=0.035) in the multivariate analysis.When the patients were divided into age-dependent groups,the rate of the food/drug allergy was significantly lower in the H.pylori-positive group than in the H.pylori-negative group(10.9 %(11/101) vs.20.6%(101/490),χ2=5.152,P=0.023) in those patients ≥50 years old.There were not statistically significant differences on contact dermatitis,urticaria,eczema,asthma and allergic rhinitis between helicobacter pylori positive group and negative group(P>0.05).Conclusion H.pylori infection may be a protective factor in food/drug allergy and the protective effect enhanced by infection time.

Objective To investigate role of interleukin-1?(IL-1?),interleukin-8(IL-8),tumor necrosis factor-?((TNF-?)) and insulinlike growth factor-1(IGF-1) in meconium aspiration syndrome(MAS) in newborns.Methods The concentrations of(IL-1?),IL-8,TNF-? and IGF-1 in peripheral serum were detected in 32 newborns with MAS and 15 normal newborns by radio-immunity at the first,the third and seventh day after being born.Correlations between IGF-1 and changes of IL-1?,IL-8,TNF-? was analyzed.Results Compared with control group,the concentration of IL-1?,IL-8 and TNF-? increased significantly in newborns with MAS in three days after being born(all P0.05).On the other hand, the concentration of IGF-1 in newborns with MAS was obviously lower than that of normal newborns one week after birth.The concentration of IGF-1 showed negative correlations with that of IL-1?,IL-8 and TNF-?(r=-0.67,-0.61,-0.73 all P

Child ; Encephalitis, Viral ; pathology ; Enterovirus A, Human ; Enterovirus Infections ; complications ; Heart Failure ; etiology ; Humans ; Respiratory Insufficiency ; etiology

Objective To estimate the application of ultrasound measurement of detrusor wall thickness (DWT) in the assessment of curative effect after operation. Methods Detrusor thickness was measured by linear ultrasound (7. 5 MHz) either at a filling volume of 50% of cystometric capacity or at 250 ml filling in 86 patients, who were diagnosed equivocal BOO, during a pressure-flow study. All patients accepted transurethral resection of the prostate. At 3 months post-surgery, the patients were divided into two groups according to curative effect after operation. The volume of the prostate, age and DWT were compared between the two groups. Results There was no difference in either age or volume of the prostate between the two groups. DWT was significantly higher (P＜0.01) in the more curative effect group (37 cases, DWT 2. 5±0.3 mm) compared to the less curative effect group (49 cases, 2.2±0. 3 mm). As a predictor of curative effect, DWT of 2. 8 mm or greater had a positive predictive value of 100%, a negative predictive value of 62%, specificity of 100% and sensitivity of 19%. Receiver operating characteristic analysis (ROC) revealed that DWT had a high predictive value for curative effect post-surgery with an AUC of 0. 84±0. 04. Conclusions In patients with equivocal BOO, ultrasonographically assessed detrusor thickness may have a predictive value for curative effect post-surgery. However, this cutoff value needs to be validated in a larger study population.

Objective To evaluate the diagnostic accuracy of ultrasound bladder detrusor wall thickness (DWT) measurement for female bladder outlet obstruction (FBOO) and investigate the application of this non-invasive method for diagnosis of FBOO.Methods DWT was measured by linear ultrasound (7.5 MHz) either at a filling volume of 50％ of cystometric capacity or at 250 ml filling in 93 women undergoing pressure flow study (PFS) for lower urinary tract symptoms (LUTS).FBOO was defined as maximal flow rate (Qmax) of less than 12 ml/s combined with a detrusor pressure at maximal flow rate (Pdet Qmax)greater than 25 cm H2O.All the patients were divided into 2 groups according to FBOO and non-FBOO.The age,urodynamic parameters and DWT of the 2 groups were compared.Meanwhile DWT was evaluated for diagnosing BOO through receiver operating characteristic (ROC) curve.ResultsThe age (61.2 ± 8.3 vs 59.9 ± 7.7 years,P =0.44) and maximal cystometric capacity (292.2 ± 82.3 vs 308.1 ± 87.5 ml,P =0.37 ) between the 2 groups had no significant difference.DWT was significantly higher ( P =0.00 ) in FBOO group (42 cases,DWT 1.8 ±0.3 mm) compared to non-FBOO group (51 cases,1.4 ±0.2 mm).Furthermore maximal detrusor pressure (43.1 ± 11.2 vs 16.2 ± 7.1 cm H2O,P =0.00),Pdet Qmax (34.3 ±8.2 vs 13.1 ±7.8 cm n2O,P =0.00),Qmax(7.4 ±3.2 vs 17.4 ±4.1 ml/s,P =0.00),voided volume (157.1 ±63.7 vs 251.2 ±77.4 ml,P=0.00) and post-void residual volume (117.5 ±71.3 vs 37.7 ± 18.1 ml,P =0.00) had significant differences between the 2 groups.For a diagnosis of FBOO,DWT of 1.9 mm or greater had a positive predictive value of 100％,a negative predictive value of 62％,specificity of 100％ and sensitivity of 38％.ROC analysis revealed that DWT had a high predictive value for FBOO with an area under the curve of 0.88 ± 0.06.Conclusions Ultrasound DWT measurement for FBOO is non-invasive,convenient and reliable.DWT 1.9 mm or greater assessed by ultrasound has a high predictive value and specificity for FBOO and can replace PFS in some extent.However,this cutoff value needs to be validated in multiple center and larger population study.

Objective To screen cardiac-specific short-acting peptides on live myocardial slices using phage display technology,so as to improve the targeted delivery efficiency of drugs in myocardium and provide effective candidates for the targeted therapy of Duchenne muscular dystrophy (DMD) and other cardiomyopathies.Methods Myocardial tissue slices were prepared and cultured in vitro.The protein activities of the tissues were examined by immunohistochemistry.The in vitro cultured myocardial tissue slices were co-incubated with phage library (1×1012 pfu),and the phages that bound to the myocardium were recovered and amplified.The cardiac-specific targeting phages were identified by five rounds of in vitro phage biopanning.The candidate phage-related insertion sequence was sequenced,and the in vivo tissue distribution of the highly enriched phages was verified.Results A platform for in vitro culturing of live myocardial slices was established.Myocardial slices with good biological activity were obtained.After 48 hours of culturing,the normal expression and localization of Dystrophin protein were detected.Using phage library,candidate phages were screened after five rounds of phage biopanning.The results of the sequencing analyses and in vivo tissue distribution verification indicated that the selected candidate phages showed significant enrichment in myocardium and skeletal muscle,and showed low levels in liver and kidney tissues.Conclusions The candidate phages showed higher binding efficiency in both myocardium and skeletal muscle,indicating that the candidate peptides had myocardial targeting property,and that can provide a new method for myocardial targeting therapy of DMD.