Among the genes involved in epilepsy,the SCN1 A gene represents one of the most commonly mutated human epilepsy genes, refers to be as super culprit gene, SCN1 A mutations cause epilepsy phenotype heterogeneity, diversity of clinical manifestations, the light performance of febrile seizures, it shows severe infant severe myoclonic epilepsy.By retrieving SCN1 A in gene mutation database, about 900 gene mutatation are associated with epilepsy syndrome.This article reviews the importance of SCN1 A gene mutation associates with epilepsy syndrome,and the importance of genetic screening SCN1 A.

The etiology of neuroblastoma is related with hereditism,enviroment and matabolic factors.By now,it has been confirmed that N-myc amplification,chromosome abnormality,and some certain gene mutations are related with neuroblastoma.However,since the development of molecular biology,some single nucleotide polymorphismes in certain genes have been established to play an important role in neuroblastoma.It is necessary to summarize the latest studies about single nucleotide polymorphism in neuroblastoma.

This study explores the association between physician-patient communication and healthcare service quality,and relevant factors.The physician-patient communication belongs to medical behaviors,and plays a key role in the improvement of physician-patient relationship and the overall healthcare service quality.The consults of physician-patient communication were affected by many factors including physicians' attitude,and usage of words and behaviors,in which the positive attitude and behaviors are key solution to the improvement physician-patient relationship.Therefore the urgent matters are to strengthen standardized management of physician-patient communication,and set up related regulations and effective measure.

arotid artery atherosclerosis is closely associated with ischemic stroke.Carotid artery intimamedia thickness is an important indicator of carotid artery atherosclerosis.Magnesium is involved in the in vivo metabolism of a wide variety of processes.Studies have shown that magnesium can decrease carotid intimamedia thickness.This article reviews the relationship between magnesium levels and carotid artery atherosclerosis in different populations.

Objective To explore the reasons of the failure of primary arteriovenous fistula (AVF)surgery and the preventive measures in patients with end-stage renal disease.Methods A total of 819patients with end-stage renal disease who accepted primary AVF surgery were selected.The data of hemoglobin (Hb),albumin (ALB),cholesterol (CHOL),parathyroid hormone (PTH),fasting blood glucose and blood pressure were collected before surgery,while the diameters of radial artery and cephalic vein were measured by upper extremity vascular ultrasound.Results Seven hundred and forty-two patients with AVF surgery were successful,and 77 patients were failed.The age,the ratio of diabetes,hypertension and blood pressure ＜ 120/70 mm Hg (1 mm Hg =0.133 kPa) in AVF failed patients was higher than that in AVF successful patients[(61.3 ± 13.4) years vs.(45.6 ± 11.2) years,46.8％(36/77) vs.31.7％ (235/742),26.0％ (20/77) vs.19.5％ (145/742),36.4％ (28/77) vs.9.2％ (68/742)],and there was significant difference (P＜0.05 or ＜0.01).The diameters of radial artery and cephalic vein in AVF failed patients was lower than that in AVF successful patients [(1.35 ± 0.64) mm vs.(1.98 ± 0.47) mm,(2.13 ± 0.81)mm vs.(2.47 ± 0.74) mm],and there was significant difference (P＜ 0.01).The level of PTH in AVF failed patients was higher than that in AVF successful patients [(782.39 ± 423.85) ng/L vs.(378.83 ± 352.21) ng/L],and there was significant difference (P ＜ 0.05).Logistic regression analysis showed that blood pressure,diabetes,PTH,the diameters of radial artery and cephalic vein was the risk factor of AVF failed.Conclusion AVF surgery failed is highly correlated with the patient s blood pressure,th primary disease,the vessel diameter,

Asphyxiation by an inhaled foreign body is a leading cause of accidental death among children younger than three years.The species of foreign body aspiration are many and varied.Immediately after inhalation the child starts to cough,wheeze,or have laboured breathing.The clinical manifestation will be different when foreign body stays in different part of bronchial tree.It's extremely easy to cause misdiagnosis.No matter whether aspiration or not,bronchoscopy should be taken.The bronchoscopy is not only the means of diagnosis,and removes the foreign body at the same time which helps to treat timely.

Objective To investigate clinical effect of pinaverium bromide combined with probiotics in the treatment of patients with irritable bowel syndrome (IBS).Methods 156 patients with IBS were randomly divided into observation group and control group.Cases in control group received pinaverium bromide tablets,and cases in observation group received bifid triple viable capsule plus pinaverium bromide tablets.Duration of treatment was 4 weeks in both groups.Clinical efficacy was evaluated after treatment.Results Total effective rates of observation group and control group were respectively 85.9％ and 70.5％.Total effective rate of observation group was significantly better than that of control group(x2 =8.557,P ＜ 0.05).The systolic pressure of anorectum was significantly lower than that of control group after treatment(t =4.432,P ＜ 0.01),but resting pressure and diastolic pressure were not significantly different after treatment(t =0.812,0.142,all P ＞ 0.05).First sensation volume,defecating sensation volume and pain volume in observation group were significantly lower than those in control group (t =3.440,4.671,3.697,all P ＜ 0.01).Conclusion Treatment of IBS with pinaverium bromide combined with probiotics is effective,and it can improve the anorectal dynamic and isceral sensitivity in patients with IBS.

Elderly acute myeloid leukemia (AML) accounted for 35 % of all AML with the increased incidence year by year, and the median onset age is 67 years old. Generally, AML patients require strong chemotherapy, but older patients often cannot tolerate intense chemotherapy due to the viscera dysfunction. It is still lack of unified treatment clinically. Reports on treatment of elderly AML in the 57th American Society of Hematology (ASH) annual meeting covered multiple fields, in which the traditional induction chemotherapy, demethylation drug alone or in combination with other drugs, and novel drugs were an involved. This article reviewed the latest research on the elderly AML in the 57th ASH annual meeting.

ObjectiveTo investigate the outcomes of mother a nd baby smaller than 37 gestational age caused by preeclampsia. Method sThe data for 122 preterm birth that was single pregnancy with preecla mpsia in our hospital from January 1993 to December 2002 were collected. The pri nciple of diagnosis and treatment, the outcomes were analyzed retrospectively. T he 122 pregnant women were divided into 3 groups according to their gestational age, more than 28 weeks and smaller than 31 +6 weeks was the first group (28 cases), more than 32 weeks and smaller than 33 +6 weeks was the second grou p (26 cases), more than 34 weeks and smaller than 36 +6 weeks was the thir d group (68 cases). The data were statisted with SAS software.Results The earlier the pregnancy-induced hypertension happened, the earlier the preeclampsia occured, the mean time was 14 03 d, 16 85 d,22 22 d, respect ively, (P0.05), the outcomes of mothers were good. Increasing the gestational age under the cond ition that the occurrene of comptications was not increased, 60 64% pregnant wo men accepted the treatment of improving the maturity of fetal lung. There were n o differences among the three groups at the morbidity of perinatal SGA, intracra nial hemorrhage (P 0.05) .ConclusionWe could improve the outcomes of pret erm birth caused by preeclampsia by enhancing the perinatal care, treating and t erminating pregnancy activey Increasing the gestational age, improving the matur ity of fetal lung would decrease the morbidity of severe RDS and improve the pe rinatal outcome effectively.

Objective To evaluate the clinical value and safety of radiotherapy combined with tyrosine kinase inhibitors (TKI) in non-small cell lung cancer (NSCLC) with brain metastasis driven by epidermal growth factor receptor (EGFR) mutation.Methods A retrospective cohort of 21 non-small cell lung cancer (NSCLC) patients with EGFR mutation-driven brain metastasis was recruited.10 patients (treatment group) were randomly selected for radiotherapy combined with TKI treatment,and 11 patients (control group) were treated with radiotherapy.Tumor size was measured and clinical efficacy was evaluated by MRI in the four weeks after radiotherapy.Since then,a clinical response was evaluated every three months until disease progression,and the median overall survival time was calculated.Results The objective remission was 8 cases in treatment group and 4 cases in control group.The disease control was 9 cases in treatment group and 8 cases in control group.The median overall survival time of treatment and control groups was 11.2 months and 6.4 months,respectively.Adverse reactions in treatment group mainly contained nausea,diarrhea and rash,which all were tolerated.Conclusion Radiotherapy combined with TKI is superior to radiotherapy alone in effect and safety for treatment of NSCLC with EGFR mutation-driven brain metastasis.