Objective To study the clinical characteristics and the effect of enzyme replacement therapy for late-onset glycogen storage disease typeⅡ(GSDⅡ). Methods The clinical, laboratory data and the result of genetic testing were retrospectively analyzed in a GSDⅡchild, the effect of enzyme replacement therapy was followed up and the relevant literature was reviewed. Results The patient had motor regression after 1 year old, the serum creatine kinase level is from 675 to 1286 U/L. The EMG test showed myopathic change, acid alpha-glucosidase activity is 12.0 nmol/(g·min), next generation sequencing of genetic muscle diseases panel found the GAA compound heterozygous mutations, both were tiny variations, and muscle biopsies showed the typical pathological features of GSD. The patient was given human recombinant of alpha glucoside enzyme 20 mg per kilogram of body weight, once every other week for 1 year. The weakness of the patient’s muscle strength had no obvious aggravation. Conclusions Early and adequate enzyme replacement therapy is the only possible treatment for GSDⅡ.

Background Neointima formation plays an important role in the pathogenesis of atherosclerosis and restenosis after angioplasty.We hypothesized if atorvastatin inhibits neointima formation mediating decreases in cathepsin S (Cat S) and nuclear factor-?B(NF-?B) expression.Objective The study was aimed to explore the effect of atorvastatin on the neointima formation,Cat S and NF-?B expression in rats after balloon-injured carotid artery.Methods Twenty-four male Sprague-Dawley rats were randomly one of three arms:control group(n=8),surgery group(n=8) and atorvastatin group[10 mg/(kg?d),n=8] for 4 weeks.Surgery and atorvastatin group were performed with balloon angioplasty to the left common carotid artery.The serum levels of IL-1? were measured using enzyme-link-immunosorbent assay(ELISA).Carotid arteries were excised and examined with pathomorphology.The expression of Cat S and NF-?B was measured using using the RT-PCR and immunohistochemistry techniques.Results Compared with surgery group,atorvastatin decreased intima area and intima media ratio(I/M)[intima area:(148.6?8.8)?103 vs (64.8?5.1)?103 ?m2;I/M:(2.1?0.2) vs (0.9?0.1),all P

Objective To study the apoptosis of multiple myeloma cell line KM-3 induced by NK cells. Methods WST-1 assay was used to detect the killing effect of KM-3 cells treated with NK cells at different effector(E):target(T) ratio. Flow cytometry was applied to analyze Annexin-V+/PI- apoptotic cells and the mitochondrial transmembrane potential. Results NK cells could significantly kill KM-3 cells in a dosand time-dependent manner (P <0.05). After KM-3 cells- were treated with NK cells for 48 hours, the Annexin-V+/PI- cells were increased obviously in dose-dependence (P <0.05). The Annexin-V+PI- cells were increased in time-dependence when treated with NK cells(E:T ratio at 10:1) (P<0.05). The mitochondrial transmembrane potential of KM-3 cells treated with NK cells were significantly decreased in dose-and time-dependence (P < 0.05). Conclusion NK cell can kill KM-3 cells and induce apoptosis in a dose-and time-dependence manner.

Objective To investigate the effects of probucol and losartan on cell proliferation after balloon angioplasty in hypercholesterolaemic rabbits.Methods Forty male New Zealand rabbits were randomly divided into high cholesterol diet group,probucol group,losartan group and combined drugs group.The iliac arteries of the rabbits were balloon-injured and the insulin-like growth factor-I receptor(IGF-IR),vascular endothelial growth factor(VEGF),and proliferating cell nuclear antigen(PCNA) were detected by using immunohistochemical method.Results Compared with high cholesterol diet group,the lumen areas were enlarged and the intimal areas were decreased in the probucol group,losartan group and combined drugs group(all P

Objective To investigate rite effects of loag-term exposure to low-level sevoflurane on reproductive function in mice.Method F0ny male ICR mice,aged 60 d,weighlag 20-25 g,were randomly divided into 4 groups(n=10 each):control group received no sevoflunme(C);group S1-3 were exposed to 0.003%.0.01% and 0.03% sevoflurane 2 h per day for 5 consecutive days per week for 8 weeks respectively. The mice were then sacrificed at the end of the 8 weeks.The testes and epididymis were emoved and sampled for determination of the activities of total lactic dehydregenase(LDH)and lactic dehydrogenase-X(LDH-X),and the motility rate,amount,and aberration rate of sperm.Testicular uhrastructure were observed by transmission electron microscopy.Results The sperm motifity nne were significantly lower.the sperm aberration rate higher and the activity of LDH-X lower in group S3 than in group C(P<0.05),but there was no significant difference in the above parametem between group SI and group S2(P>0.05).The pathology changed of testes occurred only in group S3 among the 3 groups.Conclusion Long-term exposure to 0.03% sevoflurane can result in the abnormality of the reproductive function in male mice but exposure to≤0.01%sevoflurane dose not.

OBJECTIVETo understand the epidemiological profiles of hand, foot and mouth disease (HFMD) and the major enteroviruses causing the epidemics of HFMD in Shanghai from 2010 to 2014.

METHODThe city-wide surveillance data between 2010 and 2014 were used to analyze the epidemiologic characteristics of the HFMD outbreaks in Shanghai. The annual incidence of HFMD was estimated based on the 2010 Shanghai Census data.

RESULTFrom 2010 to 2014, the reported HFMD cases were 41 080, 37 323, 51 172, 42 198, and 65 018, respectively; the severe cases (case-severity ratio) were 469 (1.14%), 456 (1.22%), 318 (0.62%), 104 (0.25%) and 248 (0.38%), respectively. Based on Shanghai census data by the end of 2010, the attack rates of HFMD in Shanghai were 0.16%-0.28% in the entire population. In terms of the proportion of HFMD cases and severe cases in the specific population, male accounted for 59.62%-61.48% and 62.26%-73.08%, migrant population accounted for 51.86%-62.40% and 72.01%-80.38%; children aged 1.0-1.9 years comprised the highest proportion, up to 22.70%-27.00% and 32.08%-36.40%. HFMD peaked from April to July, in parallel with the peak circulation of enterovirus (EV) 71, and a small peak usually occurred in autumn and winter. All the critically severe and fatal cases were caused by EV71. The detection rates of EV71 and Coxsackievirus A (CA) 16 were 73.08%-88.09% and 1.12%-2.90% in severe HFMD cases, 19.75%-48.74% and 2.02%-23.69% in uncomplicated inpatients, and 16.78%-40.08% and 8.36%-33.39% in mild community cases, respectively. The detection rates of CA6 and CA10 in the mild community cases in 2014 were 18.38% and 1.43%, respectively. In 2013 non-EV71 and non-CA16 enteroviruses comprised 74.86% in the community cases.

CONCLUSIONThe annual HFMD outbreaks occurred in Shanghai during 2010-2014. Children under 5 years of age, migrant population and male were the major susceptible population. EV71 and CA16 were the predominant pathogens causing the epidemics of HFMD except in 2013, and CA6 was prevalent in the community cases in 2014. The major peak season of HFMD usually overlapped with the peak of EV71 circulation and the majority of severe HFMD cases were associated with EV71 infection.

Child ; China ; epidemiology ; Disease Outbreaks ; Enterovirus A, Human ; Female ; Hand, Foot and Mouth Disease ; epidemiology ; Humans ; Incidence ; Male ; Prevalence ; Seasons

Entropy model is widely used in epileptic electroencephalogram (EEG) analysis, but there are few reports on how to objectively select the parameters to compute the entropy model in the analysis of resting-state functional magnetic resonance imaging (rfMRI). Therefore, an optimization algorithm to confirm the parameters in multi-scale entropy (MSE) model was proposed, and the location of epileptogenic hemisphere was taken as an example to test the optimization effect by supervised machine learning. The rfMRI data of 20 temporal lobe epilepsy (TLE) patients with hippocampal sclerosis, positive on structural magnetic resonance imaging, were divided into left and right groups. Then, the parameters in MSE model were optimized by the receiver operating characteristic curves (ROC) and area under ROC curve (AUC) values in sensitivity analysis, and the entropy value of the brain regions with statistically significant difference between the groups were taken as sensitive features to epileptogenic hemisphere lateral. The optimized entropy values of these bio-marker brain areas were considered as feature vectors input into the support vector machine (SVM). Finally, combining optimized MSE model with SVM could accurately distinguish epileptogenic hemisphere in TLE at an average accuracy rate of 95%, which was higher than the current level. The results show that the MSE model parameter optimization algorithm can accurately extract the functional imaging markers sensitive to the epileptogenic hemisphere, and achieve the purpose of objectively selecting the parameters for MSE in rfMRI, which provides the basis for the application of entropy in advanced technology detection.
Brain/diagnostic imaging* ; Brain Mapping ; Entropy ; Epilepsy, Temporal Lobe/diagnostic imaging* ; Humans ; Magnetic Resonance Imaging