Objective To explore the clinical features of lissencephaly and the detection ofLISI gene.MethodsThe characteristic of clinical features, laboratory examination and gene detection in one case of lissencephaly was retrospectively analyzed. Meanwhile, the related literatures were reviewed.ResultsA 5-month-old female child diagnosed with epilepsy 20 days ago was hospitalized for convulsive seizure more than 30 times in 3 days. The manifestations were eyes staring, and turning upward, cyanosis of lips and face, froth at the mouth, extremities rigidity and loss of consciousness, and the symptoms can spontaneously remitted in 2-3 minutes. Laboratory examination showed that peripheral blood white cell count was 13.67×109/L, hemoglobin 108 g/L, red blood cell count 3.90×1012/L, lymphocyte 10.26×109/L; maocardial enzyme and hepatic and renal function were normal; blood ammonia was 23 μmol/L and lactic acid 2.11 mmol/L. Long-range video EEG showed highly arrhythmia, and frequent partial epilepsy, and sometimes secondary generalized epilepsy. Head MRI showed lissencephaly. The child was treated with oral administration of Keppra 27 mg/(kg·day), Topiramate 6.5 mg/(kg·day), currently no seizure. The detection ofLIS1 gene found that heterozygous mutation of c.232delG, which lead to protein shift mutation (p.E78NfsX25). No mutation was found in her parents.ConclusionsChild with lissencephaly may combine with epilepsy which may cause by mutation inLIS1 gene. And there was no information about point mutation of c.232delG inLIS1 gene being reported at home and abroad so far.

Objective To explore whether albumin corrected anion gap (ACAG) is associated with long-term mortality of sepsis patients.Methods Adult patients with a diagnosis of sepsis within the first 24 hours (from December 2013 to December 2014) admitted to the intensive care unit (ICU) were included via the Sepsis database of West China Hospital Sichuan University. To record their long-term survival, patients were followed up by telephone interview one year after enrollment. ACAG was calculated according to the anion gap (AG) level within the first 24 hours admitted to ICU, and patients were divided into normal ACAG group (ACAG 12-20 mmol/L) and high ACAG group (ACAG > 20 mmol/L), and clinical characteristics and 1-year mortality were compared between groups. Patients were also divided into survivors and non-survivors according to the 1-year survival outcome, and multivariate logistic regression analysis was conducted to find independent risk factors for long-term mortality of sepsis patients.Results A total of 296 sepsis patients were enrolled in the study, with 191 (64.5%) in the high ACAG group and 105 (35.5%) in the normal ACAG group. There were no significant differences in age, gender, acute physiology and chronic health evaluation Ⅱ (APACHE Ⅱ), sequential organ failure assessment (SOFA), Charlson cormobidity index (CCI) and other background variables between groups. Compared with the normal ACAG group, patients who suffered from multiple organ dysfunction syndrome (MODS) in the high ACAG group were more prone to develop renal and gastrointestinal injury (43.5% vs. 25.7%, 52.9% vs. 33.3%, respectively), had significantly higher serum creatinine [SCr (μmol/L): 89.0 (61.0, 148.0) vs. 67.1 (48.0, 86.0)], greater need for continuous renal replacement therapy (CRRT, 16.8% vs. 6.7%), and significantly shorter length of ICU stay and hospital stay [days: 11 (5, 22) vs. 16 (18, 31), 21 (14, 39) vs. 28 (20, 47)], with statistically significant differences (allP < 0.05). It was shown by Kaplan-Meier survival analysis that 1-year cumulative survival for the high ACAG group was significantly lower than that of the normal ACAG group (55.0% vs. 67.7%,P = 0.046). It was shown by multivariate logistic regression that ACAG [odds ratio (OR) = 1.201, 95% confidence interval (95%CI) = 1.115-1.293,P = 0.000], APACHE Ⅱ (OR = 1.053, 95%CI = 1.011-1.098, P = 0.014), the incidence of septic shock (OR = 2.203, 95%CI = 1.245-3.898,P = 0.007), fungus infection (OR = 3.107, 95%CI = 1.702-5.674,P = 0.000), acute renal failure (OR = 2.729, 95%CI = 1.134-6.567,P = 0.025) and complicated with malignancy (OR = 2.929, 95%CI = 1.395-6.148,P = 0.005) were independent risk factors contributing to increased 1-year mortality among sepsis patients.Conclusion ACAG was an independent risk factor for 1-year mortality of sepsis patients.

Objective:To study the effect of midnight-noon ebb-flow acupoint selection on rheumatoid arthritis. Methods:120 cases of patients with rheumatoid arthritis were randomly divided into three groups:midnight-noon ebb-flow acupoint selection group,acupuncture by differentiation of symptoms and signs group,integrative group of midnight-noon ebb-flow acupoint selection and acupuncture by differentiation of symptoms and signs group. Results:In the midday-midnight flowing of qi-blood acupuncture group of 40 cases,11 cases were improved obviously,11cases were improved,9cases were improved slightly,9 cases were ineffective,the total effective rate was 77.5%. In the acupuncture by differentiation of symptoms and signs group of 40 patients,10 cases were improved significantly,11 cases were improved,11 cases were improved moderate,8 cases were ineffective,the total effective rate was 80.0%. In integrated group of midnight-noon ebb-flow acupoint selection and acupuncture by differentiation of symptoms and signs group of 40 patients,15 cases were improved significantly,13 cases were improved,10 cases were improved moderate,2 cases were ineffective,the total effective rate was 95.0%. Curative effect of the integrative group was better than that of other two groups(P

Objective To investigate the efficacy and safety of percutaneous microwave ablation in the treatment of hypersplenism.Methods From March 2007 to May 2011,38 patients with hepatitis B virus caused liver cirrhosis and complicated with hypersplenism received percutaneous microwave ablation treatment for several times.Before percutaneous microwave ablation treatment,the volume of spleen was calculated according to 3D computed tomography (CT) scan.Ultrasound,blood routine,urine routine,liver function test,kidney function test,serum amylase and lipase were also tested.For the first time,1/3 volume of spleen was ablated.If no complication were observed in one week after ablation,then another 1/3 volume of spleen was ablated.Blood routine and liver function test were checked on the 1st,3rd and 5th day after microwave ablation.Blood routine,liver function test and ultrasound were examined on 7th and 14th day after microwave ablation.On the 30th day CT examination was conducted.Ultrasound,blood routine,urine routine,liver function test,kidney function test,serum amylase and lipase were detected at one month,three month and every three month after microwave ablation.The follow up duration was over two years.The t-test was performed for clinical data comparison.Results The mean ratio of ablated spleen was (47 ±5)％ (range 41％ to 57％).Preoperative white blood cell count was (2.46±0.78)× 109/L,which gradually increased after operation and peaked on the 3rd day after operation ((5.34 ± 2.10) × 109/L).Then gradually decreased,which was (3.16 ± 1.02) × 109/L at 24 month and the difference was statistically significant compared with that of preoperation (t=-3.349,P＜0.01).Preoperative platelet count was (46.58 ± 17.30) × 109/L,which gradually decreased after operation and was lowest on the 3rd day after operation.Then gradually increased,which peaked at 30 days after operation ((101.79 ± 25.80) × 109/L) and then gradually decreased,which was (61.97 ± 15.09) × 109/L at 24 month and the difference was statistically significant compared with that of preoperation (t＝-4.135,P＜0.01).The inner diameter of portal vein was (14.66±0.88) mm preoperation,which was (13.22±0.64) mm at three month after operation and the difference was statistically significant compared with that of preoperation (t=8.145,P＜0.01).It was (14.64±0.81) mm at six month after operation and the difference was not statistically significant compared with that of preoperation (P＞ 0.05).The major adverse effects were fever,left upper abdominal pain,left shoulder pain,pleural effusion,intraperitoneal hemorrhage and temporary hemoglobinuria which all recovered after symptomatic treatment.No severe complication such as uncontrollable bleeding,splenic abscess,spleen rupture and the surrounding organ injury and treatment related death were observed.Conclusion Percutaneous microwave ablation for several times could safely destroy suitable volume of spleen,increase platelet and white blood cell count,improve portal hypertension and with rare complications,which might be a minimally invasive techniques with clinical application value in the treatment of the hypersplenism.

Objective To observe the protective effects of Cordyceps Extract (Cordyceps sinensis, CS) on ischemia reperfusion injury of transplanted kidney in renal allograft rejection, and to investigate the inhibition of immune regulation mechanism.Methods 100 rats were randomly divided into a blank control group, an ischemia reperfusion group, a cyclosporine A group, a Cordyceps high dose group (CSA), and a Cordyceps small dose group (CSB). Except the blank control group, all the other groups were underwent same race variant body left renal transplantation. 2 hours after the transplantation, cyclosporin A 2.0 mg/(kg?d) was injected to the cyclosporine group, CSA group, and CSB group. 1% CS of 5 and 10 ml/kg by gavage was respectively given to CSA and CSB groups. 10ml/kg sodium chloride was injected to the bland control group and the ischemia reperfusion group. After 14 days (d) of administration, the content of blood urea nitrogen (BUN), Cystatin C (Cys C), creatinine (Cr), total superoxide dismutase (T-SOD), serum malondialdehyde(MDA), lactate dehydrogenase (LDH), serum total protein (TP), albumin (ALB) were detected. Results Compared with the  cyclosporin A group, the content of BUN(8.71 ± 0.87mmol/L, 9.78 ± 1.01mmol/Lvs.12.59 ± 1.54mmol/L), Cys C(1.36 ± 0.09 mg/L, 1.40 ± 0.11mg/L vs.1.94 ± 0.12 mg/L), Cr(117.79 ± 15.35μmol/L, 121.28 ± 16.01μmol/L vs.133.76 ± 17.07 μmol/L), LDH(157.32 ± 20.93U/L, 154.35 ± 19.39U/L vs.187.78 ± 25.18 U/L), MDA(122.23 ± 19.41nmol/ml, 125.29 ± 25.97nmol/ml vs.184.23 ± 26.74 nmol/ml) were decreased in the CSA group and CSB group, T-SOD(80.35 ± 7.71U/ml, 78.30 ± 7.79U/ml vs.56.43 ± 7.25 U/ml) was increased(P<0.05).Conclusion CS can significantly inhibit lipid peroxidation, renal ischemia reperfusion caused a decrease in MDA and LDH production, increase the activity of T-SOD and TP, ALB, reduce the damage of kidney function, have a dual immunomodulatory effects obvious, with cyclosporin A anti rejection has synergistic effects, while increasing the body immunity, to allograft renal transplantation has protective effect of renal ischemia / reperfusion injury in rats.

Objective To analyze the clinical data of children with Langerhans cell histiocytosis (LCH),to discuss the therapeutic effect,and to analyze the factors related to prognosis.Methods A total of 45 children diagnosed as LCH were divided into group A (18 cases with bone lesion only),group B(6 cases with soft tissue lesion),and group C (21 cases with viscera lesion) according to Shanghai Children's Hospital-LCH-2007 scheme [SCH-LCH-2007 (modified DAL-HX83/90) scheme].(1) Initial treatment:group A was treated with Prednisone (Pred) + Vincristine (VCR) for 28 weeks,and group B was treated with Pred + VCR + Etoposide (VP16) + Mercaptopurine (6MP) for 43 weeks,and group C was treated with Pred + VCR + VP16 + Methotrexate (MTX) +6MP for 52 weeks.(2) Re-treatment scheme after relapse included:①upgrading treatment,group A to group B,group B to group C.②Individual treatment for group C included VP16 modification,and maintained Thymosin and/or Ciclosporin etc.Results The total survival rate was 93.3％ (42/45 cases) and recurrence rate was 26.7％ (12/45 cases).Children in group A and B were all effective,while 2 patients in group C died,and 1 case missed follow-up.Multi-factor analysis showed that the factors like age,sex,group,skeleton,soft tissue,erythra,lymph gland,lung,mouth,ears,hypophysis pituitary had no statistical significance,but liver,spleen and blood involvement had statistical significance in disease relapse:liver (P=0.007 1),spleen (P=0.016 9),and blood (P=0.011 1).Conclusion LCH can affect several organs of children and relapse,and modified DAL-HX83/90 scheme is very effective.The liver,spleen and hematopoiesis system involvement is correlates with the relapse.

OBJECTIVETo investigate the effects of endophytic fungal elicitors on the growth and atractylodin accumulation of cell suspension cultures of Atractylodes lancea.

METHODThe endophytic fungal elicitors were added to the medium with different concentrations and culture period. Their effects on biomass, atractylodin content and relevant enzyme activities in suspension cultured cells were studied.

RESULTThe cell growth was not affected by elicitors at low concentration and obviously inhibited at high concentration. Inhibition rate reached 46.7% by 100 mg L(-1) elicitor. In addition, six strains from A. lancea, among which Rhizoctonia SP1 activity was higher, had distinctly promoted the accumulation of atractylodin. Atractylodin biosynthesis was notably promoted by 20-60 mg L(-1) Rhizoctonia SP1 elicitor. When 40 mg L(-1) Rhizoctonia SP1 elicitor was added in the medium at the 12 day, the maximum content of atractylodin was 28.06 microg L(-1) at the 21 day with 48.3% higher than that of the control and PPO, POD and CAT activities remarkably increased.

CONCLUSIONAdding the endophytic elicitors to the medium is able to be effective approaches to enhance atractylodin yield in the suspension culture cell of A. lancea.

Atractylodes ; growth & development ; microbiology ; physiology ; Cell Culture Techniques ; Cells, Cultured ; Fungi ; physiology ; Furans ; metabolism ; Symbiosis

Objective To evaluate the efficacy of different treatment regimens for children with acute promye-locytic leukemia (APL)with positive PML -RARa fusion gene.Methods Thirty -two newly diagnosed APL patients were included in this study,treated either with all -trans -retinoic acid (ATRA)and chemotherapy (CT)(group A) or with ATRA and arsenic trioxide (ATO)(group B).Clinical situation and clinical efficacy were analyzed in patients in different groups.They were also separated into low risk group,intermediate risk group and high risk group according to different risk criteria.Clinical characteristics,complete remission,long -time survival and urine arsenic concentra-tion were analyzed and compared.Results (1 )Fourteen of 1 5 patients (93.3%)in group A achieved hematological complete remission (HCR)with a median time of 38 days (28 -63 days).Sixteen of 1 7 patients (94.1 %)in group B achieved HCR with a median time of 29 days (1 0 -42 days),which was significantly shorter than group A,and there was a significant difference between 2 groups(t =3.53,P =0.002).(2)The 5 -year event -free survival (EFS)of group A and group B was (60.0 ±1 2.6)% and (81 .9 ±9.5)%,respectively;the 5 -year EFS of group B was almost 20% higher than group A;while there was no significant difference between the 2 groups(χ2 =1 .1 5,P =0.28).The 5 -year overall survival (OS)of group A and group B was (72.2 ±1 1 .9)% and (94.1 ±5.7)%,respectively,the 5 -year OS of group B was almost 20% higher than group A;while there was no significant difference between the 2 groups(χ2 =2.88,P =0.1 6).(3)The 5 -year EFS of low plus intermediate group and high risk group patients was (74.0 ±1 0.1 )% and (64.8 ±1 4.3)%,the 5 -year EFS of low plus intermediate group was almost 1 0% higher than high risk group,but there was no significant difference between the 2 groups(χ2 =0.1 4,P =0.71 ).The 5 -year OS of low plus intermediate group and high risk group patients was (84.7 ±8.1 )% and (71 .3 ±1 4.1 )%,the 5 -year OS of low plus intermediate group was almost 1 0% higher than high risk group,while there was no significant difference be-tween the 2 groups(χ2 =0.36,P =0.55).(4)ATO related side effects were mild,including abnormal liver tests and e-lectrocardiogram,but were invertible after supportive therapy.At the end of each chemotherapy course,the urine arsenic concentration remained low and no chronic arsenic toxicity or second malignancies were found during the follow -up period.Conclusions The ATRA plus ATO regimen is a promising and better treatment for childhood APL with positive PML -RARa fusion gene compared with conventional chemotherapy.It was necessary to take risk stratification in APL patients.

Objective To investigate the characteristics and the correlative factors of constipation in Parkinson's disease (PD) patients.Methods The demographic information,clinical features and history of medications of 193 patients with idiopathic PD consulting in the outpatient department of the First Affiliated Hospital,Anhui Medical University were collected.Patients were evaluated using following scales:Unified Parkinson's Disease Rating Scale Ⅲ (UPDRS Ⅲ),Hoehn-Yahr stage,Bristol Scoring Scale,Cleveland Constipation Scoring Scale (CCS),Scale for Outcomes in PD-autonomic for Autonomic Symptoms,Simple Food Frequency Questionnaire,Hamilton Depression Scale (HAMD),Mini Mental State Examination.The patients were divided into constipation group and non-constipation group based on Rome Ⅲ Criteria for Diagnosis of Functional Constipation,and the correlative factors of constipation were compared and analyzed between the two groups.The severity of constipation and influencing factors were also compared between patients with early onset constipation (occurred before present of motor symptoms) and patients with late onset constipation (occurred after present of motor symptoms).The impacts of anti-PD medication adjustments on constipation were assessed by observing the alteration of constipation severity in 41 PD patients.Results The incidence of constipation was 56.4％ (109/193) in our cohort of PD patients,and 21.1％ (23/109) of constipation was severe according to the assessing by CCS.The spectrum of constipation symptoms included defecation straining (89.9％,98/109),poor stool output (67.9％,74/ 109),reduced stool frequency (63.3％,69/109) and dryness of stool (60.5％,66/109).The age,disease duration,scores of Hoehn-Yahr stage,UPDRS Ⅲ and HAMD,levodopa equivalent dose (LED),frequency of urination disturbance in constipation group were significantly higher than those in nonconstipation group,while the daily quantities of vegetable and water intake in constipation group were significantly lower than those in non-constipation group.Age and HAMD scores were the independent risk factors of constipation (OR=1.049,95％ CI 1.014-1.086,P=0.006;OR=1.316,95％ CI 1.185-1.461,P =0.000).Among the 109 constipation patients,the course of PD,scores of Hoehn-Yahr stage,UPDRSⅢ and LED were positively correlated with the severity of constipation (r =0.269,0.338,0.315,0.341,0.371,all P ＜ 0.05),with HAMD score being the independent risk factor of constipation severity (OR =1.175,95％ CI 1.044-1.322,P ＜ 0.05).The severity of constipation and risk factors of constipation in patients with early onset constipation were not distinct from those with late onset constipation.Conclusions The incidence of constipation increases with the increment of age,disease duration,Hoehn-Yahr stage,UPDRS Ⅲ scores,LED,HAMD scores,urination disorder severity and the decrement of daily water and vegetable intakes.The severity of constipation is positively related to the severity of motor symptoms,the daily dose of anti-PD drugs and depression levels.PD patients with early onset constipation are not distinct from the patients with late onset constipation in terms of severity and risk factors.The influences of anti-PD drugs on constipation are variable depending on the specific drug used and individual constitution.Individualized treatment regimes are proposed with respect to the management of constipation according to the specific risk factors in PD patients.

Objective To observe the clinical effect of health education pathway on patients after hip replacement. Methods Patients after artificial hip replacement (200 cases) were divided randomly into the observation group and the control group with 100 cases in each group.The control group adopted general health education methad.The observation group was given health education according to health education pathway.The level of disease-related knowledge and satisfactory degree were compared between the two groups. Results The level of disease-related knowledge and satisfactory degree in the observation group were higher than those of the control group (P ＜ 0.01 ). Conclusions Health education pathway can facilitate level of disease-related knowledge and positive cooperation with treatment and nursing of patients as well as increase satisfactory degree of patients.