OBJECTIVETo screen for genetic mutations in 35 patients with Leber's hereditary optic neuropathy (LHON).

METHODSPolymerase chain reaction and DNA sequencing were used to screen for the presence of mitochondrial DNA mutations.

RESULTSThe total detection rate of top 3 common LHON mutations were 20.0%, which included 6 cases of ND4 11778 G to A, 1 case of ND1 3460 G to A. No ND6 14484 T to C mutation was detected. A ND4 G11719A synonymous mutation was found in all patients. In addition, 21 other mutations were discovered among 23 patients, among which 13 had a single mutation, 8 had a second mutations, and 2 had a third mutation. Among the 21 mutations, ND4 11778 G to A had a frequency of 28.6%(6/21). ND1 3552 T to A, ND6 14470 T to C, ND4 11794 T to C, ND1 3497 C to T and 3644 T to C respectively had a frequency of 19.0% (4/21), 19.0%(4/21), 14.3%(3/21), 9.5%(2/21) and 9.5%(2/21). Among the 3 patients who harbored a ND4 11794 T to C mutation, 2 were heteroplasmic and one was homoplasmic in nature.

CONCLUSIONThe ND4 11778 G to A mutation is common in the Top "3" primary mutations of patients with LHON. Candidate LHON mutation ND1 3552 T to A or ND1 3644 T to C resulted in LHON pathogenesis as single or synergistic effect. The visual impairment at onset of the disease with candidate mutation were better than the eyes with the ND4 11778 G to A mutation.

Adolescent ; Adult ; Child ; Child, Preschool ; DNA, Mitochondrial ; genetics ; Female ; Humans ; Male ; Middle Aged ; Mutation ; Optic Atrophy, Hereditary, Leber ; genetics

Objective To investigate the effects of sevoflurane anesthesia on the expression of c-Jun N-terminal kinase (JNK) and neuronal apoptosis in hippocampus in juvenile rats.Methods Forty healthy male SD rats, aged 30-35 days, weighing 100-110 g, were randomly divided into 2 groups (n = 20 each): control group (group C) and sevoflurane group (group S) . Group C inhaled a gas mixture of oxygen and air for 5 h and group S 3% sevoflurane for 5 h. The concentration of oxygen in both groups was maintained at 30% . Ten rats in each group were scarified at 1 h after regaining consciousness and the hippocampi removed for determination of phospho-JNK expression (by immuno-histochemistry and Western blot) and neuronal apoptosis (by TUNEL) . Another 10 rats were selected at 24 h after regaining consciousness to assess the cognitive function using Morris water maze. Results Compared with group C, phospho-JNK expression was significantly up-regulated, the number of apoptotic neurons increased, the latency prolonged and the duration of staying at the original platform quadrant shortened in group C ( P ＜ 0.05 or 0.01) . Conclusion Inhalation of 3.0% sevoflurane can induce neuronal apoptosis in hippocampus by activating JNK signaling pathway, thus leading to cognitive decline in juvenile rats.

Objective To compare the cognitive difference of subjects'responses to the same visual stimuli under two different priming conditions,and to discuss the influence of inversion effect and configural changes upon facial recognition.Methods Priming pattern was employed,and subjects were induced to recognize the same stimuli as schematic faces or three English letters under different priming conditions.The participants'accuracy and reaction times were compared in two priming conditions. Results Participants'accuracy of the comparison stimuli in facial priming condition decreased significantly by inversion effect((79.03±10.53)%vs(89.43±9.98)%,P<0.01);reaction times of priming stimuli and comparison stimuli were delayed by inversion effect significantly((3720.40±607.71)ms vs(2998.33±544.02)ms,(3521.80±1038.20)ms vs(2750.87±867.13)ms,P<0.01),and there was no influence of inversion effect upon the reaction times of English letter stimuli(P>0.05).Correlations of accuracy to reaction times reached no significant difference under two conditions.Conclusion Priming effect make sense in the cognition,and there was a priming stage before the facial configuration.Inversion effect shows up in the face priming condition,and vanish in the English letter priming condition,which demonstrate the importance of configuration and inversion effect in the facial cognition.What's more,such effect can't be explained by the changes of cognitive difficulty.

Objective To investigate the relationship between polymorphisms of interleukin-4 receptor (IL-4R) gene (E375A, C406R, Q576R) and childhood asthma in Harbin. Methods Ninety-one (91) children with asthma were included, and 42 healthy children were enrolled as control. The genotype polymorphisms of IL-4R were determined by polymerase chain reaction-restriction fragment length polymorphism analysis. Results There was no significant difference in the distributions of the genotypes at both 1 124 A/C polymorphic sites (i.e. E375A polymorphism) and 1 902 A/G polymorphic site (i.e. Q576R polymorphism) in IL-4R between asthmatic group and control group (P > 0.05). There was significant difference in the distributions of the genotypes (CC, CR, RR) on 1 216 T/C polymorphic site (i.e. C406R polymorphism) in IL-4R between the two groups (P < 0.05). The R allele frequency was 22.94% in asthmatic group and 6.58% in control group, with significant difference between the two groups (P < 0.05), but the allele frequencies at this site did not satisfy Hardy-Weinberg equilibrium (P < 0.05). Conclusions Our data suggest that the E375A and Q576R polymorphisms in IL-4R is not associated with the development of asthma in children in Harbin. Further study is needed on the relationship between C406R polymorphism and asthma.

Objective To determine the risk factors related to tuberculosis infection among people living with HIV/AIDS and to develop strategies for preventing the co-infection.Methods A 1:2matched nested case-control study was carried out to analyze the influencing factors of tuberculosis among people living with HIV/AIDS.Results 1018 people living with HIV/AIDS were followed up for one year with a total number of 736.75 person-years,among them 62 tuberculosis cases were diagnosed.The incidence density of tuberculosis among people living with HIV/AIDS was 8.42 persons per 100 person-years.Factors as education level(OR=0.483),vaccination history of Bacille Calmette Guerin(OR=0.561),CD_4~+ count T-lymphocyte(OR=0.356),unemployment(OR=1.976),living alone(OR=2.646),and smoking(OR=2.215)were significantly related to the prevalence of tuberculosis among people living with HIV/AIDS.Conclusion High education level,with vaccination history of Bacille Calmette Guerin and high level of CD_4~+ T-lymphocyte count were protective factors while being unemployed,living alone,and smoking habit were risk factors related to the prevalence of tuberculosis among people living with HIV/AIDS.

Objective To investigate the effects of acute normovolemic hemodilution(ANH)on intraoperative intracranial pressure(ICP),jugular venous oxygen saturation(SvO_2),and venous blood lactate(VBL)of patients with intracranial tumor, Methods Forty-two patients,elected to perform supratentorial intracranial tumor resection on some certain days,were randomly divided into ANH(n=21)and control (n=21)groups.Bloodletting was performed in the radial artery after anesthesia induction and the same amount of hydroxyethyl starch was injected into the internal jugular vein at the same time so as to induce the haematocrit reaching to 30% in the ANH group.ANH was not performed in the control group.Acetated Ringer's solution was used during the operation in both groups.The level of arterial partial pressure of oxygen(PaO_2),arterial oxygen saturation(SaO_2),venous oxygen partial pressure (PvO_2),mixed venous O_2 saturation(SvO_2)and VBL was measured before hemodilution(T_0),30 min after the hemodilution(T_1),1 h after the hemodilution(T_2),and at the time the operation was finished(T_3)in both groups.And the changes of ICP before hemodilution(T_0),immediate after hemodilution(T_1),30 min after the hemodilution(T_Ⅱ),and before the endocranium was cut open(T_Ⅲ)in both groups. Results The ICP value in the two groups was not significantly different at different time points;The level of SvO_2 in the control group was significantly lower than that in the ANH group at T_2 and T_3(P<0.05);Significantly decreased level of SvO_2 and increased level of VBL was found in the control group at T2 and T_3 as compared with those in the control group at T_0 and T_Ⅱ(P<0.05). Conclusion Maintaining ICP in patients with intracranial tunlor during the operation through performing ANH with Hct reaching 30%,can significantly improve the oxygen supply and consumption in the brain tissue.

Objective To explore the feasibility of exogenous NGF and/or Noggin gene transfecting into the bone marrow-derived mesenchymal stem cells (BMSCs) and observe the differentiation of BMSCs modified by NGF and/or Noggin.Methods BMSCs were isolated from SD rat and purified by adherent method and these cells were identified by their phenotypical properties and their abilities of differentiating into adipocytes.Ad-GFP-NGF and/or Ad-GFP-Noggin were transfected into BMSCs.The protein expressions of NGF and/or Noggin were detected using immunocytochemistry and Western blotting.The differentiations of gene modified BMSCs were observed by immunohistochemistry.Result The cells selected by adherent method had basic phenotypical properties of BMSCs and could differentiate into adipocytes.BMSCs without transfection and those transfected with Ad-GFP expressed low level of NGF without Noggin expression.All gene modified BMSCs could express NGF and/or Noggin.After transfection, BMSCs could differentiate into cells having neuronal morphology and expressing NF (H).The combined transfection group had the highest ratio of NF(H)+ cells among all the groups.Conclusion BMSCs can be isolated and purified from rat bone marrow by adherent method.Ad-GFP-NGF and/or Ad-GFP-Noggin can transfect BMSCs safely and the transfected cells can express those proteins persistently and efficiently.NGF and Noggin can induce BMSCs into neuron-like cells in vitro and when they exist simultaneously,the differentiation is further enhanced.

Objective To assess the prevalence rates of intra-and extraeranial large-artery stenosis in the rural community population and its related risk to the development of stroke.Methods The study subjects included 1337 residents in the rural community of Beijing.Transcranial Doppler Was carried our to examine the relation between intra-and extracranial large-artery stenosis and subsequent cerebrovascular events, with a meall follow-up period of 16.7 months.Results The incidence densities of cerebral infarction and cerebral hemorrhage in persons without cerebral large-artery stenosis were 410.6 and 351.9/100-thousand person-years,respectively.In the group wlth large-artery stenosis,the incidence density of cerebral infarction was 3303.7/100-thousand person-years.Data from The Fisher's Exact test showed a significant difference in the two groups (P=0.004).Cerebral large-artery stenosis(OR=6.593,95%CI:1.712-25.390)and smoking (OR=8.437,95% CI:2.327-30.598)appeared to be independent risk factors to cerebral infarction.Conclusion Cerebral large-artery stenosis and smoking were independent risk factors to cerebral infarction.

AIMTo study the effect of radix-astragali compound(RC) on muscle atrophy in tail-suspended rats. Muscle weight, fiber type distribution, cross-sectional area (CSA), and activity of myosin adenosine triphosphatase (ATPase) in rat soleus muscle were investigated.

METHODSThe tail-suspended rats were subjected to a 14 days simulated weightlessness, during which period, RC or saltwater was given via intragastric instillation during tail suspension. The changes of soleus muscle weight were scaled by muscle-to-body weight ratio. The activities of myosin ATPase of muscle fibers were detected by method of Ca(2+) -ATPase.

RESULTSAfter a 14 days tail suspension it was found: in rats treated with RC, soleus muscle-to-body weight ratio rose by 33.33% (P < 0.01), both CSA of type I and II fiber drastically enhanced by(143.03%, P < 0.01; 83.25%, P < 0.01), the percentage of type I fiber significantly declined compared to the untreated rats.

CONCLUSIONRC is able to effectively prevent muscle atrophy caused by tail suspension and restrain the increase in the myosin ATPase activities caused by simulated weightlessness.

Animals ; Drugs, Chinese Herbal ; pharmacology ; Hindlimb Suspension ; Male ; Muscle Fibers, Skeletal ; enzymology ; Muscle, Skeletal ; drug effects ; enzymology ; Muscular Atrophy ; prevention & control ; Myosins ; metabolism ; Rats ; Rats, Sprague-Dawley ; Weightlessness Simulation ; methods

Objective To analyze the clinical and laboratory characteristics of systemic lupus erythematosus (SLE) in children. Methods Fifty-three inpatients, 5 boys and 48 girls with SLE, who aged from 7 to 14 years with a median age at 12 years, were enrolled into this study. A retrospective study was carried out to assess the clinical and laboratory features of these pediatric patients. Results The ratio of male to female patients was 1:9.6. Skin eruption was the most common initial manifestation (41.51%), followed by fever (20.75%) and arthralgia (20.75%). Systemic involvement was common, and 84.90% of these patients had hematological abnormalities, 60.38% renal involvement, 18.87% nervous involvement. The most common manifestation of hematological, renal and nervous involvement was anemia, proteinuria and seizures, respectively. Among the immunologic parameters tested, anti-nuclear antibody showed the highest positivity rate of 90.57%, followed by anti-dsDNA with a positivity rate of 67.92%. There was no significant difference between the male and female patients in the age of onset, SLEDAI score at admission and discharge, duration of hospitalization or the dose of corticosteroid used initially and at the discharge. Conclusion The manifestations of pediatric SLE are various, and multisystem involvement is common in these patients. Early diagnosis and active treatment might benefit the prognosis of pediatric SLE.