Background Leber hereditary optic neuropathy (LHON) is a disease characterized by maternal inheritance.A number of mitochondrial DNA (mtDNA) mutation has been thought to be associated with this disease.Objective This study was to investigate the clinical and molecular genetic properties of LHON in two Chinese families.Methods Forty subjects from two Chinese families with LHON were enrolled in Affiliated First Hospital of Zhengzhou University,including 28 maternal members (10 of these members are LHON and 12 controls from two families.All the participants had a complete ophthalmic examination including visual acuity,direct ophthalmoscopy,color sensation and visual evoked potentials.MtDNA was extract from the whole blood sample of all participants.PCR-DNA sequencing was performed to detect the point mutation of the G11778A,T14484C,and G3462A for each subject.Written informed consent was obtained from each subject prior to this study.Results Only G11778A point mutation was identified in all 28 maternal members from the two families.No point mutation of G11778A was identified in non-maternal members,and no point mutation of the T14484C and G3462A were found in the two families.Conclusions The inherited pattern of these two families shows typical clinical and genetic features of LHON.LHON patients with G1 1778A mutation have a poor prognosis of visual acuity.

Objective:To investigate the effect of HLA genetic susceptibility and NK cell receptors and immune response on the occurrence and development of the Cervical cancer.Methods: Select the 200 patients confirmed by the pathological biopsy in our hospital from January 2013 to January 2014 as the observation group.At the same time,randomly select the 200 healthy women as the control group.Both of them blood 2 ml peripheral blood,sample the cervical cell from the observation group.Having the cytological ob-servation and the DNA′s probe of the HPV,observe two group′s HPV infection rates and HLA′s parting.Results: The HPV infection rates of the observation group is 91%,and the rates of the control group is 16%.The differences between them were all significant(P<0.05).The HLA-KIR*1003,HLA-KIR*14,HLA-KIR*17,HLA-KIR*02,HLA-KIR*12 distribution frequency of the observation group are 41%,39%,35%,15%,53%.The HLA-KIR*1003,HLA-KIR*14,HLA-KIR*17,HLA-KIR*02,HLA-KIR*12 distribution frequency of the control group are 18%,15%,14%,52%,89%.The differences between them were all significant ( P<0.05).Among them The HLA-KIR*1003, HLA-KIR*14, HLA-KIR*17 distribution frequency of the observation group are significantly higher than the control group, HLA-KIR*02 , HLA-KIR*12 distribution frequency of the observation group are significantly lower than the control group.Conclusion:During the occurrence and development of the Cervical cancer,the HLA-KIR*1003,HLA-KIR*14,HLA-KIR*17 may be the risk factors for the Cervical cancer;the HLA-KIR*02,HLA-KIR*12 may be the protective factors for the Cervical cancer.

Adolescent ; Adult ; Busulfan ; therapeutic use ; Female ; Hematopoietic Stem Cell Transplantation ; methods ; Humans ; Male ; Middle Aged ; Transplantation Conditioning ; methods ; Young Adult

Recent work has shown that nitric oxide (NO) induction by nitric oxide synthase(NOS) is the physiological mediator of bone cell function and demonstrated that it may be possible to exert differential effects on osteoblast (OB) and osteoclast (OC) activity in vivo. The proinflammatory cytokines, such as tumor necrosis factor-? (TNF-?), interleukin-1? (IL-1?), interferon-? (IFN-?), will stimulate bone resorption by NOS-induced low levels of NO. These findings confirm NO as a potentially important osteoblast-osteoclast coupling factor, indicating that cytokine-induced NO was largely responsible for the mechanisms of osteoporosis. Pharmacological modulation of NO may therefore represent a new approach in the treatment of bone diseases characterized by increased bone resorption, such as osteoporosis (OP).

Herbicides ; poisoning ; Humans ; Paraquat ; poisoning ; Poisoning ; therapy

Annexin A5 ; biosynthesis ; isolation & purification ; Escherichia coli ; metabolism ; Genetic Vectors ; Humans ; Recombinant Proteins ; biosynthesis ; isolation & purification

Objective To compared the electrophysiological features in peripheral vertigo and central vertigo. Methods The electronystagmograph ( ENG ) and brainstem auditory evoked potentials ( BAEP ) were applied in peripheral vertigo group(85 cases) and central vertigo group(61 cases).Result ENG abnomal was in 67 cases (78.8%) in peripheral vertigo group.Overshoot or undershoot of dysmetria test was in 6 cases ( 7.1%);spontaneous nystagmus was in 5 cases(5.9%);abnormal of gaze test was in 16 cases(18.8%); eye tracking test typeⅠwas in 42 case(49.4%), typeⅡwas in 17 cases(20.0%), and typeⅢwas in 8 cases(9.4%); bilateral asymmetry of optokinetic nystagmus test was in 19 cases(22.4%);positioning nystagmus was in 51 cases(60.0%);abnormal of cold and hot test was in 31 cases(36.5%).ENG abnomal was 42 cases(49.4%) in central vertigo group.Overshoot or undershoot of dysmetria test was in 19 case(31.1%);spontaneous nystagmus was in 13 cases (21.3%);abnormal of gaze test was in 23 cases(37.7%);eye tracking test typeⅠwas in 35 cases(57.4%), typeⅡwas in 13 cases(21.3%), and typeⅢwas in 8 cases(13.1%);bilateral asymmetry of optokinetic nystagmus test was in 33 cases(54.1%); positioning nystagmus was in 2 cases(3.3%); abnormal of cold and hot test was in 6 cases(9.8%).Compared with peripheral vertigo group, the abnormal rates of optokinetic nystagmus test, gaze test, eye tracking test, optokinetic nystagmus test in central vertigo group were significantly increased, and the abnormal rates of positioning nystagmus, cold and hot test in central vertigo group were significantly decreased (all P<0.05). There were 32 cases(37.6%) in peripheral vertigo group with BAEP abnormal, and 31 cases(50.8%) were in central vertigo group with BAED abnormal.Compared with central vertigo group, the latency ofⅠwave andⅠ-Ⅲwave latency delayed in peripheral vertigo group were significantly increased, the latency ofⅤwave andⅠ-Ⅴwave latency delayed were significantly decreased ( all P<0.05 ) .Conclusions There are high sensitivity of optokinetic nystagmus test, gaze test, eye tracking test, optokinetic nystagmus test of ENG to the diagnosis of central vertigo. There are high sensitivity of positioning nystagmus, cold and hot test to the diagnosis of peripheral vertigo.The positive rate of BAEP is relatively lower, but it can provide objective foundation for location of vertigo patients.

Objective To evaluate the accuracy of stoke volume variation (SVV) determined using FloTrac/Vigileo and Picco-plus technologies in prone position for assessment of the blood volume in the patients undergoing spine surgery,Methods Forty-three ASA physical status Ⅰ-Ⅲ patients of both sexes,aged ＞ 18 yr,weighing 40-100 kg,scheduled for elective posterior approach to lumbar spinal fusion or scoliosis surgery were studied.After induction of anesthesia,a volume expansion was performed in supine and prone positions.Hydroxyethyl starch 130/0.4 sodium chloride injection 5 ml/kg was rapidly infused intravenously over 10 min to carry out the test for fluid responsiveness.Picco-plus and FloTrac/Vigileo systems were simultaneously applied in every subject to measure SVV (SVVP and SVVF).Positive fluid responsiveness was defined as the changing rate of stroke volume index ≥ 10％ as measured by using Piccoplus system.The patients were divided into response group (Rs group) and non-response group (NRs group) according to the changing rate of stroke volume index ≥ 10％ and ＜ 10％.The receiver operating characteristic (ROC) curve for SVV was plotted,and the diagnostic threshold,area under the ROC curve and 95％ confidence interval (CI) were calculated.Results Forty-one patients were included for analysis in this study.In supine position,the area under the ROC curve for SVV in predicting the fluid responsiveness was 0.740 (95％ CI:0.568-0.913),the diagnostic threshold was 12％,and the sensitivity and specificity in determining fluid responsiveness were 86％ and 54％,respectively,for SVVF,and the area under the ROC curve was 0.637 for SVVP.In prone position,the area under the ROC curve was 0.451 for SVVF,and 0.634 for SVVP.Compared with Rs group,the baseline value of SVVFwas significantly lower,and no significant change was found in the other hemodynamic parameters before volume expansion in supine position in NRs group.There was no significant difference in the hemodynamic parameters before volume expansion in prone position between the two groups.Conclusion SVV determined by using FloTrac/Vigileo and Picco-plus systems in prone position can not accurately assess the blood volume in the patients undergoing spine surgery.

Objective To reproduce an experimental model of microsurgical reversible obstruction jaundice by micro-surgical technique. Methods Eight Banna miniature pigs were equally and randomly assigned into model group and control group. An improved Foley catheter was put into gall bladder of the pigs in the control group. A biliary calculus removal balloon tube was inserted into the common bile duct through the cystic duct in the experimental group to establish either partial or total biliary obstruction. The obstruction could be relieved by withdrawing the balloon tube from the common bile duct. Biliary tract visualization was conducted to evaluate the biliary obstruction, and venous blood samples were collected to determine the liver function (such as serum levels of TBIL and ALT etc.) in all pigs on the 2nd, 4th and 6th day after operation. Results Cholangiography showed a progressive dilation of both common hepatic duct and intrahepatic bile duct in the experimental group when the partial biliary obstruction was induced. During the periods when the total biliary obstruction was created the common bile duct, the common hepatic duct and intrahepatic bile duct of the animals in the experimental group were dilated progressively too. Both intra- and extra- hepatic bile ducts changed significantly compared to the control group. The dilatation subsided following the relief of obstruction. There was no dilatation of the bile duct in the control group. The serum levels of TBIL and ALT were significantly higher in the experimental group than that in the control group, and they were lowered after the relief of obstruction. Conclusion A microsurgical reversible obstruction jaundice model has been successfully reproduced with a biliary calculus removal balloon tube. It may provide a reliable experimental method for researches on the pothogenesis and treatment of obstruction jaundice.

The microbial flora of fungi,bacterial and actinomycetes in full autotrophic ammonium removal reactor and activated sludge was analyzed,and the amount of nitrite-oxidizing bacteria and ammonia-oxidizing bacteria was also compared.The result showed that the population,species,species number and dominates of microorganisms in full autotrophic ammonium removal reactor were different from that in activated sludge.In full autotrophic ammonium removal reactor,the amount of ammonia-oxidizing bacteria was increased remarkably which indicated that the accumulation of ammonia-oxidizing bacteria was a remarkable feature of full autotrophic ammonium removal system.