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.

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.

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

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 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.

Objective To investigate the value of bone morphogenetic protein-7 (BMP-7) and the kidney shear wave velocity (SWV) in the diagnosis and treatment of diabetic nephropathy.Methods 150 cases of patients with diabetic mellitus were divided into three groups according to 24h urinary albumin excretion (Ualb):normalbuminuria (NA) group,microalbuminuria (MA) group and clinical proteinuria (CA) group;50 healthy subjects were selected as the control group (NC).The levels of blood BMP-7 were detected and the virtual touch tissue quantification (VTQ) was used to detect renal SWV in four groups.Both the BMP-7 level and the renal parenchyma SWV were compared among four groups.Then correlation analysis was made between blood of BMP-7 level and renal SWV in diabetic nephropathy groups.Results Blood BMP-7 level:the lowest was CA group,the middle one was MA group,and the highest was NA group (P ＜0.05),the NC group and the NA group had no significant difference (P ＞0.05); SWV measured values:CA group was the highest,MA group was middle one and the NA group was the lowest (P ＜ 0.05),the difference between NC group and the NA group was not significant statistically (P ＞0.05).The blood levels of BMP-7 and renal SWV had a significant negative correlation (r =-0.612,P ＜0.05).Conclusions The blood BMP-7 levels downregulate with the progressing of diabetic nephropathy,but the renal SWV increases with the diabetic nephropathy deterioration,and may indirectly reflects blood BMP-7 levels.Both of them have important application values in the diagnosis or treatment of diabetic nephropathy.

Objective To investigate the application value of virtual touch tissues quantization(VTQ)in the stages of type 2 diabetic nephropathy.Methods 120 cases of type 2 diabetes were divided into 3 groups according to urinary albumin excretion rate (UAER):diabetes without urinary albumin,diabetes with trace albuminuria and diabetes with mass albuminuria.The control group consisted 30 normal cases.VTQ was used to measure the renal shear wave velocity (SWV),then compare were made between the 4 groups.Besides,correlation analysis was made between SWV and UAER in diabetic nephropathy group.Results When compared SWV,there was no significant difference between diabetes without urinary albumin and control group (P =0.144),but there was significant difference between each 2 group of diabetes with trace albuminuria,diabetics with mass albuminuria group and control group (P ＜ 0.05).There was also significant difference between each 2 group of diabetes (P ＜ 0.05).The correlation coefficients for SWV and UAER in diabetes were 0.697(P ＜0.05).ROC analyses showed the area under curves for SWV diagnosis for diabetic nephropathy was 0.93.The best cutoff point,sensitivity and specificity were 2.43 m/s,85.7％ and 84.5 ％,respectively.Conclusions The renal SWV increases as the renal injury progresses,which also plays an important role in diabetic nephropathy stages.

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 investigate the effect of theanine pretreatment on DNA repair function in neurons during brain ischemia-reperfusion (I/R) injury in rats.Methods One hundred and eight male Sprague-Dawley rats,weighing 290-310 g,aged 15 weeks,were randomly divided into 3 groups (n =36 each) using a random number table:sham operation group (S group),I/R group and theanine pretreatment group (T group).Global cerebral I/R was produced by 4-vessel occlusion method.Bilateral vertebral arteries were electrically cauterized,and bilateral common carotid arteries were clamped for 6 min.Theanine 1 g/kg was injected intravenously at 4 h before clamping bilateral common carotid arteries in T group,and the equal volume of normal saline was given in the other two groups.At 2,6,12,24,48 and 72 h of reperfusion,6 rats were selected in each group and sacrificed,the brains were removed,and the hippocampus was isolated for determination of the number of viable neurons in the hippocampal CA1 region (with a light microscope),apoptosis in neurons in the hippocampal CA1 region (by TUNEL),and expression of DNA repair protein X-ray repair cross-complementing group 1 (XRCC1) and Ku70 (by immunohistochemistry).The apoptotic index was calculated.Results Compared with S group,the number of viable neurons was significantly decreased,and the apoptotic index was significantly increased at 6,12,24,48 and 72 h of reperfusion,and the expression of XRCC1 and Ku70 was significantly down-regulated at 2,6,12,24,48 and 72 h of reperfusion in I/R group (P＜0.01).Compared with I/R group,the number of viable neurons was significantly increased at 12,24,48 and 72 h of reperfusion,the apoptotic index was significantly decreased at 6,12,24,48 and 72 h of reperfusion,and the expression of XRCC1 and Ku70 was significantly up-regulated at 2,6,12,24,48 and 72 h of reperfusion in T group (P ＜ 0.01).Conclusion The mechanism by which theanine pretreatment attenuates brain I/R injury is related to enhancement of DNA repair function and reduction of neuronal apoptosis in rats.