Objective To study the clinical and genetic features of Huntington's disease (HD). Methods The data of clinical information and heredity in 28 patients with HD from 6 Chinese families were analyzed retrospectively. Results There were 28 patients in 6 pedigrees, including 15 males and 13 females. The onset age of all patients was 26～72 years old and the course of disease was variable from 6 years to more than 20 years, and there were 6 gene carriers, including 2 males and 4 females. These patients mainly appeared progressively chorea movement, with mental abnormalities (3 cases), dementia (1 case),ataxia (3 cases), dysarthria and dysphay in late stag (10 cases). Brain MRS of one gene carrier demonstrated significant Lac inversion hump in bilateral lenticular nucleus. Six pedigrees showed autosomal dominant inheritance. HD patients and gene carriers had an abnormal expansion of CAG (n≥37). Moreover, in 4 pedigrees, the onset age was earlier in the subsequent generations. Conclusions HD is an autosomal dominant neurodegenerative disorder with genetic anticipation and diversified clinical presentations. The (CAG)n expansion at the IT15 gene is the disease-causing mutation in the six pedigrees.

ObjectiveTo determine the validity of transcranial sonography (TCS) in the differential diagnosis of Parkinson's disease (PD) and essential tremor (ET). MethodsTCS was performed in 100 patients with PD, 33 patients with ET and 100 normal controls in a blind manner. The echo signal intensity of the substantia nigra was classified into grade Ⅰ-Ⅴ for semi-quantitative analysis.When the echo intensity was gradeⅢ or more,it was deemed as abnormal and the area of the substantia nigra hyperechogenicity would be measured and its ratio to the area of the whole midbrain ( S/M ) would be calculated. Results ( 1 ) Semi-quantitative analysis: the ratio of the persons whose echo intensity of the substantia nigra was grade Ⅲ or more was greater (76. 00％ ,76/100) in PD than ET (9. 09％, 3/33) and normal controls ( 13.00％, 13/100; x2 = 130. 622, P ＜0. 01 ). However, there was no difference between ET and controls. (2) Quantitative analysis: the median and quartile range of the area of substantia nigra hyperechogenicity and S/M were greater in PD patients ( O. 54 ( 0. 57 ), 11.03 ( 9. 00 ) ) than ET ( 0. 00(0.04), 0.00(1.55),H= 42.39,42.19, both P＜0. 01, respectively) and normal controls (0.00(0. 00), 0. 00 (0. 00 ), H = 121.86,121.47, both P ＜ 0. 01, respectively), and there was no difference between ET and controls. (3) Using the area of hyperechogenicity ≥0. 20 cm2 or S/M ≥ 7％ as a cut off for predicting PD, the sensitivity, specificity and accuracy were 85.39％, 78. 38％ and 81.50％ or 86. 02％,81.31％ and 83.50％ ,respectively. But there was no significant difference for the accuracy (Z = 0. 683,P ＞ 0. 05). ConclusionTCS might find the specific hyperechogenicity of substantia nigra in PD patients,providing useful information to distinguish PD from ET.

Objective To explore the clinical significance of the serum brain?derived neurotrophic factor( BDNF) level in severe neonatal hyperbilirubinemia. Methods One hundred and twenty term and birth weight>2500 g infants admitted to the Neonatal Intensive Care Unit of Bethune nternational Peace Hospital of People Liberation Army were divided into severe hyperbilirubinemia group and control group according to their total bilirubin concentration. Total bilirubin( TBIL) concentration,BDNF and albumin in serum were determined in two groups. In addition, craniocerebral MRI was performed in severe neonatal hyperbilirubinemia before discharge. The correlation of the BDNF, TBIL, B/A, MRI results between severe hyperbilirubinemia group and control group were compared. Results The serum BDNF levels in severe hyperbilirubinemia group was ( 8. 84 ±3. 26) μg/L,significantly higher than that in control group((6. 24±1. 71) μg/L,t=3. 88,P<0. 05). In severe hyperbilirubinemia group,BDNF level was positively correlated with B/A level(r=0. 429,P<0. 05),but there was no correlation between BDNF and total bilirubin level(r=0. 278,P>0. 05). The serum BDNF level with craniocerebral MRI abnormal was ( 9. 53 ± 2. 77 ) μg/L, higher than that with craniocerebral MRI abnormal ((7. 81±3. 76) μg/L),but there was no statistical difference between them(t=1. 439,P>0. 05). Conclusion In severe neonatal hyperbilirubinemia, the body can secrete BDNF increasely. BDNF level is positivelycorrelated with B/ A level. As a marker of brain damage,BDNF is sensitive than craniocerebral MRI.

Objective 　To evaluate the value of 99m　Tc-TRODAT-1 SPECT DAT imaging in the early diagnosing of Parkinsons disease (PD).Methods　 Eleven patients (9 PD and 2 possible PD) and eighteen healthy subjects matched by sex and age were studied with 99m　Tc-TRODAT-1 SPECT DAT imaging. Striatum specific uptake of 99mTc-TRODAT-1 was calculated according to the ratio of DAT uptake in striatum (ST) and cerebellum (CB). Results　In the hemi-Parkinsons disease group, the DAT specific uptake of 99mTc-TRODAT-1 was significantly lower (P＜0.01) in contralateral than in ipsilateral striatum to the clinically symptomatic side. There was significant decrease (p＜0.01) of striatum DAT uptake in patients with hemi-PD compared to the controls.Conclusions　99mTc-TRODAT-1 SPECT DAT imaging may help to confirm the diagnosis of PD at the early stage.

Objective To explore the specific role of autophagy and ubiquitin-proteasome pathway in apoptosis, specific protease inhibitor and (or) macroautophagy inhibitors.Methods The stimulators were selected to work on the pheochromocytoma (PC12) cell lines transfected with human mutant α-synuclein (A53T).Cell activity and apeptosis rate were detected by MTT law and flow cytometry.NO energy, heat shock protein 70 (Hsp70) and Caspase-3 expression were determined in cell culture.Results A53T cell survival rate significantly decreased 24 hours after handling with the protease inhibitor (100 nmol/L) and (or) autophagy inhibitors 3-MA (10 mmol/L, A =0.23±0.01,0.19±0.01 and 0.17±0.01 respectively; P <0.05) compared with the control group (A =0.32±0.06).Cell survival rate was significantly higher than the other drug group after 24 hours handling with autophagy stimulators (A =0.44±0.08).Compared with the control group or autophagy stimulator of rapamycin (0.2 μg/ml) group (1.55%±1.15%), A53T cells apeptosis percentage rate was significantly higher after treated with proteasome inhibitor and macroautophagy inhibitors 24 hours (4.74%±0.91%, 4.59%±1.18% and 5.40%±1.75%respectively, P <0.05); and a slight decrease with stimulators.Protein Hsp70 and NO were significantly higher in proteasome inhibitor groups than the control group.But in antophagy inhibitor and stimulator group, NO and Hsp70 protein was similar to the control group.Conclusion The inhibition of macroautophagy and proteasome can promote apoptosis.Inhibiting or stimulating autophagy has less impact on Hsp70 and NO than proteasome pathway.

Objective To compare the efficacy of different therapies for idiopathic membranous nephropathy (IMN) patients, and to discuss their rationality. Methods The clinicopathological data and therapies of 76 patients with IMN in our hospital was retrospectively analyzed and reviewed, and the efficacy was followed up.According to the different therapies, 76 patients were divided into 4 groups, including symptomatic treatment group, glucocorticoid-alone group, immunosuppressant-alone group, and glucocorticoid in combination with immunosuppressant group (combination group). Comparison and analysis of the efficacy of the different therapies were made. Results (1) The incidence of nephrotic syndrome and 24-hour proteinuria of patients in symptomatic treatment group were significantly lower than those in glucocorticoid-alone group and combination group. (2) The remission rates of 4 groups were 56.3%,73.7%,66.7% and 78.9%, respectively. In general, no statistical differences were observed in the remission rates of patients among the symptomatic treatment group, glucocorticoid-alone group and combination group. The 2-year and 5-year renal survival rates were 89.2% and 79.3%, respectively. (3) Patients in glucocorticoid-alone group and combination group were divided into low-risk, moderate-risk and high-risk patients. No difference in remission rate was observed between the two therapies for low-risk and moderate-risk patients.But for high-risk patients,the remission rate in combination group was significantly higher than that in glucocorticoid-alone group.(4) Patients in glucocorticoid-alone group and combination group were divided into remission subgroup and non-remission subgroup. It showed that only estimated glomerular filtration rate (eGFR) between these two subgroups had statistical difference, and eGFR in non-remission subgroup was lower than that in the remission subgroup. Conclusions For high-risk patients,treatment with glucocorticoid combined with immunosuppressant may improve the remission rate of proteinuria significantly.Glomerular filtration rate before treatments is an important prognostic factor.

Objective To study the clinic value of brain edema detected by ultrasound examination in high risk term infants. Meth-ods The study group included 140 term infants who were found having brain edema in cranial ultrasound examinations. 152 term infants with normal ultrasound scan were selected as a control group. The risk factors of brain edema were collected, and univariate analysis and multivariate logistic regression analysis were performed. Results (1) There was no difference of incidence of brain edema between the infants with or without maternal ill historys, fetal distress or hypoalbuminemia, with P > 0.05. (2) In the univariate regression model, as-phyxia,hypoxic -ischemic encephalopathy (HIE) ,ventilation and metabolic acidosis were associated with an increased risk of brain ede-ma. In the multivariate logistic regression model, HIE was associated with a greater risk of brain edema and ventilation was possibly asso-ciated with brain edema. Conclusion Brain edema detected by ultrasound examination in high risk term infants has close relationship with HIE. It suggest that there is a consistency between ultrasound results and clinic situation. The detection of brain edema by ultrasound can assist doctor in clinic practice.

Objectives To investigate the clinical characteristics of hypoglycemic brain damage, and to assess the ifndings of amplitude-integrated electroencephalography (aEEG) and its predictive value in hypoglycemic brain damage. Methods Twenty-four neonates diagnosed with hypoglycaemia were selected. 12-hour continuous aEEG recordings were performed on the day when hypoglycaemia was diagnosed and second aEEG tracings was performed on the same day or the day after. The variability of aEEG background, appearance of sleep-wake cycling, bandwidth span and amplitude of lower border were analysed and compared with the results of brain MRI. Results Different degrees of epileptic seizures were found in neonates with severe hypoglycemic brain damage and were persisted after the blood sugar was corrected. aEEG in hypoglycemic brain damage was characterized by calyptriform or jagged epileptiform activity, disappearance of the sleep-wake cycle, but little impact on amplitude of lower border and bandwidth span. The recovery of sleep-wake cycle was a sign of brain function recovery. The aEEG and MRI had a good consistency in monitoring the hypoglycemic brain damage. Conclusions aEEG have signiifcant changes in hypoglycemic brain damage and can be used to monitor dynamically hypo-glycemic brain damage.

Objective To observe the effect of mutant α-synuclein(A30P)in autophagic programmed cell death by transfected PC12 cells and explore its probable role and pathway in PD.Methods The definite PC12 cells which were transfected mutant α-synuclein(A30P)were constructed at first and MPP+,Rapamycin and Wortmanin were administrated to transfected PC12 cells with mutant α-synuclein. Not only the proliferative activity of cells was detected with MTT method but also the ultrastructttre changes of cells and expression of α-synuclein in different circumstance were observed by transmission electron microscopy(TEM),Western Blot and the level of SOD.Results (1)The expression of α-synuclein in groups A30P+Wortmannin and A30P+MPP+was higher than that in group A30P(P＜0.01), particularly.there was more significant expression of α-synuclein in group A30P+Wortmannin.The expression of α-synuclein in group A30P+Rapamycin was weaker than that in group A30P(P＜0.01); (2)The results showed that the SOD level(group A30P+MPP+:3 h:97.49±13.8;12 h:102.7±12.7; 24 h:101.5±11.8;48 h:104.3±12.4)was significantly decreased at various time points after MPP+ treatment compared that of group A30P(t=3.7721,P=0.0017).SOD level gradually increased in A30P +Rapamycin 12 h and showed significant difference at 24 h(121.2±13.0),48 h(124.3±14.1)and 72 h(127.7±13.7)after drug treatment compared with that in group A30P+Wortmannin(t:2.9746, P=0.0083);(3)Mutant α-synuclein(A30P)leading to PC12 cells death by means of autophagy involved α-synuclein accumulation,membrane lipid oxidation,and loss of plasma membrane integrity.Mutant α- synuclein(A30P)mediated the toxicity of MPP+.Rapamycin,an inducer of autophagy,reduced the aggregation of α-synuclein in transfected cells.Meanwhile,Wortmanin,an inhibitor of autophagy,promoted the aggregation of α-synuclein in transfected cells and induced cells to die.Conclusions The abnormal aggregation of α-synuclein induces autophagic programmed cell death in PC12 cells and mutant α-synuclein (A30P)mediates the toxicity of MPP+.Meanwhile,Rapamycin may reduce the aggregation of α-synuclein in transfeeted cells by activation of autophagic pathway.

The harmonious medical cooperation based on mutual respect and mutual trust is an important part of modern ICU medical care activities,throughout the whole process of ICU medical and nursing work.Whether the relationship between doctors and nurses is harmonious or not directly affects the prognosis of ICU patients.With the change of medical model,the relationship between doctors and nurses is changing. This paper analyzed the influencing factors of doctor nurse cooperative relationship and the significance of good doctor nurse communication and cooperation,summarized the methods and strategies to promote cooperation between doctors and nurses at home and abroad,which would provide reference for clinical cooperation between doctors and nurses in theory and practice.