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Research has shown mutations in the voltage-gated sodium channel gene SCN2A to be associated with developmental delays and infantile seizures in patients with early-onset epileptic encephalopathies (EOEEs). Here, we report the case of an infant with a de novo SCN2A mutation with EOEE who had medically refractory seizures that improved with a ketogenic diet (KD) implemented at an age less than 2 months. On the day of his birth, the infant presented with a pattern of convulsions with dozens of episodes per day. An initial video electroencephalogram revealed poor reactivity of background activity, with multiple partial episodes starting from the right temporal region, and abnormal electrical activity in the right hemisphere. The seizures previously were not controlled with successive therapy with phenobarbital, topiramate, and levetiracetam. Genetic testing revealed the presence of a mutation in the SCN2A gene (c.4425C>G, p.Asn1475Lys). The infant’s seizures decreased significantly with a combination of KD and medication. The present case exemplifies the potential for personalized genomics in identifying the etiology of an illness. Furthermore, the KD appears to feasible in infants younger than 2 months and might elicit good responses to EOEE associated with SCN2A mutation.
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OBJECTIVE@#To explore the clinical features of a Chinese pedigree affected with skeletal muscle sodium channelopathies due to variation of SCN4A gene.@*METHODS@#Potential variation of the 24 exons of the SCN4A gene was screened using PCR and Sanger sequencing.@*RESULTS@#Four family members were affected with the disease in an autosomal dominant inheritance pattern. Three patients had normekalemic periodic paralysis, while 1 showed paramyotonia congenita. Genetic analysis detected a missense variation c.2078T>C (p.Ile693Thr) in exon 13 of the SCN4A gene in the proband and other 3 affected relatives.@*CONCLUSION@#Normokalemic periodic paralysis and paramyotonia congenita can occur in different family members with skeletal muscle sodium channelopathies due to c.2078T>C(p.Ile693Thr) variation of SCN4A gene.
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Humains , Canalopathies , Génétique , Muscles squelettiques , Mutation , Génétique , PedigreeRésumé
Objective To investigate the protective effect of prenatal astaxanthin treatment against cognitive impairment in adult offspring induced by exposure to maternal seizures in utero.Methods Female adult Sprague-Dawley rats were randomly divided into four groups:control group,astaxanthin group,kindling group and kindling+astaxanthin group.Each rat was implanted with electrodes.Those in the kindling and kindling+astaxanthin groups were kindled once a day by electrical stimulation of the amygdala.All rats were allowed to mate after one week's amygdala kindling.Rats in the kindling and kindling+astaxanthin groups continued to be treated with electrical stimulation every 48 hours from gestational day 1 to 20,and those in the astaxanthin and kindling+astaxanthin groups were injected intraperitoneally with 30 mg/(kg · d) of astaxanthin simultaneously.Naturally delivered offspring were raised till 12 weeks of age.Morris water maze test was performed to assess the cognitive function of adult offspring.Changes in the morphology of hippocampus were observed with Nissal's staining and transmission electron microscope.Expression of cyclic adenosine monophosphate response element binding protein (CREB) and brain-derived neurotrophic factor (BDNF) in adult offsprings' hippocampus tissues at protein and mRNA levels were determined using Western-blotting and reverse transcription-polymerase chain reaction.Analysis of variance and LSD test were used as statistical methods.Results Morris water maze test showed that from the 3rd day to the 5th day,the kindling group had significantly longer escape latency [(36.33 ±7.85),(28.80± 8.41),(29.50± 11.72) s] than the control [(28.90±7.46),(17.59±9.12),(10.40±3.69) s] and kindling+astaxanthin groups [(28.30±5.75),(18.37±3.39),(15.23±6.63) s] (F=3.601,9.811 and 14.226,all P＜0.05).In probe trials,the kindling group had significantly fewer platform crossings as compared with the control and kindling+astaxanthin groups [(4.40± 1.71) vs (7.20± 1.62) and (6.50±1.84) times,F=6.586,P=0.001].The kindling group spent dramatically less time in the target quadrant than the control and kindling+astaxanthin groups [(27.35±7.63) vs (58.29± 10.48) and (40.41 ± 7.06) s,F=25.825,P＜0.001].Nissl staining showed that hippocampal neurons of offspring in the control group were normal,but there was hippocampal damage in the kindling group and the damage was more severe than that in the kindling+astaxanthin group.Electron microscope observation showed that neurons and synapses in the hippocampal CA1 area of offspring in the control group were normal.However,obvious damage to neurons and synapses was induced in the kindling group and that was worse than the damage induced in the kindling+astaxanthin group.Expression of CREB and BDNF protein in the kindling group (0.19±0.06and 0.32 ±0.04,respectively) were significantly lower than those in the control (0.81 ±0.11 and 0.93 ± 0.04,respectively) and kindling+astaxanthin groups (0.60± 0.07 and 0.80±0.06,respectively) (F were 34.015and 71.074,both P＜0.001).Moreover,the kindling group showed decreased expression of CREB and BDNF mRNA (0.48 ± 0.11 and 0.43± 0.08,respectively) as compared with the control (1.02± 0.65 and 0.99± 0.09,respectively) and kindling+astaxanthin groups (0.89±0.15 and 0.96±0.13,respectively) (F were 13.447 and 21.912,both P＜0.01).Conclusion Treatment with astaxanthin could ameliorate the cognitive impairment and pathological damage in hippocampus of adult offspring induced by exposure to maternal seizures in utero through regulating the CREB-BDNF signal pathway.
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Objective To evaluate the efficacy and safety of domestic human recombinant FSH (rhFSH) in women with anovulation of WHO groupⅡ. Methods A randomized, blind, parallel-controlled, non-inferiority and multicenter study was performed. A total of 534 admitted to 13 hospitals from May 2008 to August 2009. There were 531 women with ovulatory disorder was included in the statistical analysis, were randomly divided into test group (domestic rhFSH, n=352) and control group (imported rhFSH, n=179). Percentage of cycle with mature follicle, ovulation rate, clinical pregnancy rate, multiple pregnancy rate, ovarian hyperstimulation syndrome (OHSS) and adverse events were observed. Results No statistical significant differences (P>0.05) were observed between the two groups in terms of the efficiency on mature follicle [91.8%(323/352) versus 88.8%(159/179)], ovulation rate [91.3%(295/323) verus 90.6%(144/159)], clinical pregnancy rate [19.2%(62/323) verus 18.2%(29/159)], the number of the follicles0.05), and no other adverse events were observed in test group during treatment. Conclusion Ovarian stimulation with domestic rhFSH is effective, safe and economical in women with anovulation of WHO groupⅡ.
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Objective To determine the efficiency and safety of Phloroglucinol and Misoprostol for cervix pretreat-ment before diagnostic hysteroscopy. Methods Trials were located through electronic searches of the PubMed, MED-LINE, Springer, CNKI, VIP, CBM, WanFang Data (from the date of establishment of the databases to June 2015). Bibliographies of the retrieved articles were also checked. Result A total of 18 trials involving 2 341 patients were included. The Meta-analysis showed: application of Phloroglucinol lenovo better open and dilate the cervix [O? =2.95, 95 % CI (1.96, 4.45), = 0.000]; To better clarity of the operative field [ O? = 9.50, 95 % CI (6.46, 13.98), = 0.000]; To better shorten the operation time [O? =-4.12, 95 % CI (-5.75,-2.49), =0.000];To bet-ter able to reduce the amount of intraoperative leakage [ O? =0.22, 95%CI (0.10, 0.49), = 0.0002]; and postop-erative adverse reactions should be significantly lower than Misoprostol [ O? = 0.01, 95 % CI (0.00, 0.04), =0.000]. The difference was statistically significant. Conclusions Phloroglucinol is more effective and safer than Miso-prostol in inducing proper cervical priming and may be the optimal choice for cervical pretreatment before diagnostic hysteroscopy.
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Objective To investigate the pregnancy outcomes of in vitro fertilization (IVF) and embryo transfer (ET) in infertile women with polycystic ovarian syndrome (PCOS).Methods From August 2005 to June 2011,200 IVF-ET cycles performed in women with polycystic ovarian syndrome in Shengjing Hospital and Shenyang 204 Hospital were enrolled in this retrospective study,matched with 400 IVF-ET cycles in infertile women with fallopian tube factors as control group.The incidence of abortion,gestational diabetes mellitus (GDM),hypertensive disorders in pregnancy,preterm birth,small for gestational age infant(SGA),large for gestational age infant (LGA),neonatal asphyxia,neonatal death and deformity was compared between two groups.Results The incidence of spontaneous abortion was 26.0％ (52/200) in PCOS group,which was significantly higher than 10.2％ (41/400) in control group (P ＜ 0.05).The incidence of GDM,hypertensive disorders in pregnancy,preterm birth,cesarean section in PCOS group was 23.6％ (35/148),16.2％ (24/148),17.6％ (26/148),83.1％ (123/148),which were significantly higher than 4.2％ (15/359),6.1％ (22/359),7.8％ (28/359),73.8％ (265/359) in control group (P ＜0.05).The incidence of SGA,LGA,neonatal asphyxia,neonatal death and deformity did not show remarkable difference between two groups,which were 2.7％ (4/148),4.7％ (7/148),5.4％ (8/148),0 in PCOS group and 1.4％ (5/359),2.2％ (8/359),2.8％ (10/359),0 in control group (P ＞0.05).Conclusion IVF-ET is an effective treatment for infertile women with PCOS,however,the incidence of spontaneous aborcion,GDM,hypertensive disorders in pregnancy,preterm birth,cesarean section in PCOS patients was increased.
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Objective To investigate the menstruation status of reproductive age women of Han Nationality in Liaoning province. Methods From Apr. 2008 to Dec. 2008, 1611 women at age of 19-45 years from Shenyang, Yingkou, Benxi, Zhangwu were enrolled in this study according to epidemiologic cluster sampling method. The study was performed by questionnaire consisting of age of menarche, regularity of menstruatinn, menstrual cycle and dysmenorrhea, et al. Results In the survey of 1611 women, the average menarche age is 14.4 years old, there were significant difference on menarche between (14.2±1.5) years in women from city and (14.6±1.5) years in women from country (t=6. 58, P<0.01). The linear regression statistic method was used to analyze the relationship between age and menarehe age, the linear regression equation was gotten as Y=0. 074X+11. 855, which means 1 year increase was associated with decrease by 0.074 years in mennrche age approximately. About 86.34% (1391/1611) of women have normal and regular menstrual cycle at range of 21 to 35 days, while 11.05% (178/1611) of women have longer menstrual cycle(>35 days) and 2.61% (42/1611) of women have shorter menstrual cycle (<21 days). Of which 65.67% (1058/1611) women have regular menstrual cycle just after menarche, 94. 97% (1530/1611) of women would have regular menstruation in 2 years after menarche. The rate of dysmenorrhea was 42.09% (678/1611), of which 13.6% (92/678) women have high severe pelvic pain.Conclusion Our results suggested that the trend went toward younger ages of menarche,which was younger menarche age in women from city than country. About 95% women would have regular menstrual cycle within 2 years after menarcbe.
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Objective To investigate the proportion of follicular fluid CD56~+ natural killer (NK) cells to the total lymphocytes and the ac-tivated CD56~+ NK cells to the total CD56~+ NK cells. To provide an evidence for improving the clinical pregnancy rate in in vitro fertilization (IVF) treatment by regulating the function of NK cells. Methods Triple color flow cytometry was used to analyze the proportion of CD56~+ NK cells and activated CD56~+ NK cells in mature follicular fluid. The IVF treatment outcome was closely followed up. The relationship be-tween the proportion of CD56~+ NK cells and activated CD56~+ NK cells and the IVF treatment outcome was analyzed statistically. Results The proportion of CD56~+ NK cells and activated CD56* NK cells in mature follicular fluid of women who got pregnancy by IVF treatment was (15.57±3.10)% and (2.63±0.94)% respectively,while the proportion of the women who didn't get pregnancy was (19.12±5.37)% and (4.06±2.08)% respectively,which was significantly higher than the pregnant group(P< 0.05). Conclusion The women with lower propor-tion of CD56~+ NK cells and activated CD56~+ NK cells in mature follicular fluid of is easier to get pregnancy by IVF. An altered NK cells pro-file in follicular fluid could therefore influence fertility in IVF treatment outcome.
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Objective To determine the bacterial composition and antibacterial resistance in female urinary tract infections (UTI) in China. Methods The disc diffusion test, minimum inhibition concentration (MIC), test or E-test was used to detect the antimicrobial susceptibility in 86 tertiary hospitals in China from June 1, 2006 to May 31, 2007. WHONET 5.4 was applied for data analysis. Results A total of 6071 pathogenic germs were collected from urine cultures of UTI female patients in the surveillance period, which included 5958 bacterial isolates. Escheriehia coll 3529 strains (59. 23% ), Enterococcus spp 938 strains (15.74%) and Klebsiella pneumoniae 394 strains (6.61%) were the most common pathogens. Escherichia coli and Klabsiella pneumoniae had 35.7% and 34. 0% extended spectrum beta-lactamases (ESBL) positive rates, and their resistant rates to quinolones were about 70% and 40%, respectively. Enterococcus faecium was much more resistant to almost all the antibiotics than Enterococcus faecabs. 0. 9% Escherichia faecalis and 3.8% Escheriehia faecium were resistant to vancomycin, whereas 2.7% and 4. 8% were resistant to teieoplanin. Staphylococcus epdermidis was more common in UT1 than Staphylococcus aureus, 79. 1% and 75.0% of the isolates being methiciUin-ressitant Staphylococcus epdermidis(MRSE) or methicillin-ressitant Staphylococcus aureus (MRSA), respectively. No vancomycin intermediate or resistant staphylococcus was detected, but 4. 9% teicoplanin intermediate rate was found in Staphylococcus epdermidis. The resistant rates to quinolones increased with the patient age. Condnsions Bacterial resistance in UTI in Chinese females is a severe problem, which could be resulted from antimierobial irrational use. In the selection of antimicrobial agents in the treatment of UTI, doctors should refer to the results of bacterial resistant surveillance.
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The cDNA of an i type lysozyme was cloned from Stichopus japonicus (named as SjLys). The DNA fragment of the mature SjLys was subcloned into expression vector of pET-32a (+) to construct the recombinant plasmid of pET32a (+)-SjLys. The recombinant plasmid was then transformed into Escherichia coli BL21 (DE3) pLysS and induced by isopropylthio-beta-D-galactoside (IPTG). The recombinant protein expressed as inclusion bodies was denatured, partially purified and refolded to be an active form. The bacteriolytic activity of recombinant protein purified by the metal-chelating was 19.2 U/mg. The antibacterial activity of the purified recombinant SjLys (rSjLys) was analyzed. The rSjLys protein displayed inhibitive effect on the growth of the tested Gram-positive and Gram-negative bacteria. In particular, rSjLys had a strong inhibitive activity on Vibrio parahaemolyticus and Pseudomonas aeruginosa, both the most common pathogenic bacteria in the marine animals. The heat-treated rSjLys exhibited more potent activities against all tested bacteria. These results indicated that the S. japonicus lysozyme was the enzyme with combined enzymatic (glycosidase) and non-enzymatic antibacterial action, and it had a wide antibacterial spectrum. Therefore, it is suggested that the S. japonicus lysozyme should be one of the important molecules against pathogens in the innate immunity of sea cucumbers.
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Animaux , Antibactériens , Métabolisme , Pharmacologie , Escherichia coli , Génétique , Métabolisme , Vecteurs génétiques , Génétique , Lysozyme , Génétique , Pharmacologie , Protéines recombinantes , Génétique , Pharmacologie , StichopusRésumé
Objective To observe the anti-tumor action of Fuzheng Yuliu Tablet(FYT).Methods Mice received subcutaneous injection of S180 into right axilla.Then the tumor-implanted mice were randomized into 6 groups: model group,FYT groups(at the dose of 2.4 and 12.4g/kg respectively),cisplatin group(at the dose of 8?g/d),and cisplatin+FYT groups.The treatment lasted 10 days.The tumor-inhibitory rate and the life-prolongation rate were observed after treatment.The cultured ovarian cancer cell strains of SKOV3 were randomized into 4 groups:model group,two FYT groups and cisplatin group.Apoptosis of SKOV3 was detected by enzyme-linked immunosorbent assay(ELISA)after culturing with the medicine for 48 hours.Results The tumor growth was inhibited to different extends in all of the treatment groups,the decrease of tumor mass weight was obvious in cisplatin group and FYT groups,and the body weight was increased in FYT groups and cisplatin+FYT groups(P
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Objective To investigate the immunologic etiology of pregnancy induced hypertention (PIH)by studying the changes of T H1 and T H2 cell ratio in the peripheral blood from patients with severe PIH. Methods We examined the cell percentage of T H1 cell(secreting cytokine IFN ?) and T H2 cell(secreting cytokine IL 4),which were from CD4 positive, by flow cytometry tri stained with PerCP CD4,FITC IFN ? and PE IL 4 monoclonal antibody. The blood samples were from severe PIH patients and normal third trimester patients. Results The percentage of T H1 cell 38.01?9 04% from the peripheral blood of severe PIH partuients was significantly higher than that of the normal partuients of the third trimester 30.26?8.65%, while the percentage of T H2 cell 2.25? 0.61% was much lower P