Objective To report a 33-year-old man with post-headache stroke-like episodes,with whom ischemic changes were found in basal ganglia and occipital-temporal lobe and muscle biopsy revealed abnormal mitochondrial structure and function without regular mutations detected in mtDNA.Methods Gene chip technique was used to detect the mutation of whole sequence of mtDNA,and direct sequencing technique was used to confirm the mutations.Results Three mutations were found.A new mutation in the mitochondrial cytochrome C oxidase subunit 1 (MTCO1),a T→C transition at nucleotide position 6253 resulted in conservative methionine transferring to threonine.His mother also held the mutation,which was not found in 98 control samples.So T6253C was considered the nosogenetic mutation.Conclusion This is the first time to report a mutation in MTCO1 responsible of MELAS.

OBJECTIVETo detect the possible relationship between PARKIN gene and the Chinese pedigree with autosomal recessive early-onset Parkinson's disease(AREP).

METHODSClinical examination was carried out in 6 patients from 3 Chinese pedigrees with AREP and their 23 family members. PCR amplification of all exons of PARKIN gene was performed. The PCR products were analyzed by denaturing high-performance liquid chromatography(DHPLC) to screen for point mutation and polymorphism. And in the samples with abnormal DHPLC result, further sequencing was conducted to confirm the type of mutation and polymorphism.

RESULTSAll exons of PARKIN gene from the research subjects were successfully amplified. A heterozygous point mutation (Gly284Arg) in exon 7 was found in one pedigree. A polymorphism (Ser167Asn) in exon 4 was found in another pedigree. All the patients had the past history of exposure to environmental poison.

CONCLUSIONWhen acting together with risky environmental factors, the heterozygous mutation Gly284Arg in PARKIN gene may cause AREP. The polymorphism Ser167Asn in PARKIN gene increases the risk of developing Parkinson's disease and may cause AREP when acting together with hydrargyrism.

Age of Onset ; Aged ; China ; epidemiology ; Chromatography, High Pressure Liquid ; Exons ; genetics ; Female ; Genes, Recessive ; Humans ; Male ; Middle Aged ; Parkinson Disease ; epidemiology ; genetics ; Pedigree ; Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Ubiquitin-Protein Ligases ; genetics

OBJECTIVETo report a Chinese Han family with two patients of Leigh syndrome (LS) and to scan the mutation in mitochondrial DNA(mtDNA).

METHODSThe clinical features and the laboratory findings were summarized. Mitochondrial DNA chip and direct sequencing were performed to detect the mutation in entire mtDNA.

RESULTSFailure of thrive, psychomotor retardation, hypotonia and weakness, cerebellar ataxia, and seizure were the main manifestations of the family. Brain magnetic resonance imaging (MRI) showed lesions at midbrain, periaqueductal gray matter, dentate nuclei of cerebellar and thalami. The levels of lactic acid and pyruvate were mildly abnormal. The mutation of ND5*13513 G to A was identified in the LS family.

CONCLUSIONPatients with ND5*13513 G to A mutation may have a characteristic clinical course and ND5 *13513 G to A might be a preferential candidate mutation of Leigh syndrome.

Base Sequence ; Child, Preschool ; DNA, Mitochondrial ; genetics ; Electron Transport Complex I ; genetics ; Female ; Humans ; Infant ; Leigh Disease ; diagnostic imaging ; genetics ; pathology ; physiopathology ; Magnetic Resonance Imaging ; Male ; Mitochondrial Proteins ; genetics ; Polymorphism, Single Nucleotide ; genetics ; Tomography, X-Ray Computed

OBJECTIVETo study the effects of Huangqi decoction (HQD) on phagocytic activity of peritoneal macrophage of mice.

METHODOne hundred Kunming mice, whose weight varied from 18 g to 22 g, were selected and divided into 10 groups randomly in eluding contrast group, groups conducted at different doses of HQD by ig, groups conducted in various ways of taking medicine, and groups conducted with comparative treat combining Huangqi and Dexamethasone. Mice in every group were taken medicine one time daily for 6 days.

RESULTAmong the groups treated at different doses of HQD, phagocytic rate and phagocytic index of mice, which were taken HQD by ig at high, middle, and low doses, were significantly higher (P < 0.01) than that of mice in contrast group, at the same time the effect in group with high dose was the best. Among the groups treated in various ways of taking medicine, phagocytic rate of the ip group was significantly better (P < 0.01) than that of the sc group and that of the ig group respectively, but there was not significant difference (P > 0.05) of phagocytic index among them. Among the groups combining Huangqi and Dexamethasone, Huangqi could antagonize the immunosuppressive effect of Dexamethasone obviously (P < 0.01).

CONCLUSIONHQD at different doses and with various ways of taking medicine could improve phagocytic activity of peritoneal macrophage of mice at different degree, and could antagonize the immunosuppressive effect of Dexamethasone.

Animals ; Astragalus membranaceus ; chemistry ; Dexamethasone ; antagonists & inhibitors ; Dose-Response Relationship, Drug ; Drugs, Chinese Herbal ; administration & dosage ; isolation & purification ; pharmacology ; Female ; Macrophages, Peritoneal ; drug effects ; physiology ; Male ; Mice ; Phagocytosis ; drug effects ; Plant Roots ; chemistry ; Plants, Medicinal ; chemistry ; Random Allocation

OBJECTIVETo investigate the related to relapse of chronic hepatitis B (CHB) after recombinant interferon-alpha (rIFN-alpha) treatment.

METHODSThis investigation involved 523 pathologically confirmed CHB patients including 403 HBeAg-positive and 120 HBeAg-negative patients, who were treated with 5 MU rIFN-alpha subcutaneously thrice a week for 6-25 months. For each patient, serum alanine aminotransferase (ALT) was measured biochemically, serum HBV DNA level detected with quantitative fluorescent PCR, and HBeAg level with enzyme immuoassay every 1-3 months during therapy and every 3-6 months during the follow-up period.

RESULTSEarly response to rIFN-alpha treatment was observed in 302 (57.7%) patients at the end of treatment, among whom 39.4% (119/302) suffered relapse during the follow-up for 39.2-/+21.5 months. Age, HBeAg status before treatment, and follow-up duration were the predictive factors for post-treatment relapse. The mean age of patients with CHB relapse was significantly higher than that of the sustained responders (P<0.001), and the relapse rates in HBeAg-negative group (55.8%, 43/77) were significantly higher than that in HBeAg-positive group (33.8%, 76/225) at the end of follow up (P<0.001). The relapse rate and accumulative relapse rates at each year during the follow-up (for 5 years as the longest) differed significantly (P<0.001, P=0.000), but the accumulative relapse rates differed little between the years after the initial 2 of the follow-up (P=0.670). The relapse was not related to the patient's gender, pretreatment serum ALT, HBV DNA, grade of liver inflammation, stage of liver fibrosis, or duration of treatment. In HBeAg-positive patients, however, the mean HBV DNA was significantly higher in relapse group than in sustained response group (P=0.017).

CONCLUSIONAge, pretreatment HBeAg status, and follow-up duration are independent predictive factors for post-treatment CHB relapse. In HBeAg positive patients, pretreatment serum HBV DNA is also one of the risk factors for relapse.

Adult ; Age Factors ; Alanine Transaminase ; blood ; DNA, Viral ; blood ; Female ; Follow-Up Studies ; Hepatitis B e Antigens ; blood ; Hepatitis B, Chronic ; blood ; drug therapy ; therapy ; Humans ; Interferon-alpha ; therapeutic use ; Logistic Models ; Male ; Recurrence ; Treatment Outcome

OBJECTIVETo investigate the role of the expression of ephrinB2 and EphB4 in non-small cell lung cancer (NSCLC), and their relationship with multi-slice spiral CT pulmonary perfusion imaging.

METHODSThirty-one nodules with pathologically proven NSCLC underwent CT perfusion scan. The perfusion parameters including blood flow (BF), blood volume (BV), peak enhancement image (PEI) were collected. The expression of ephrinB2 and EphB4 in tumor cells and interstitial vasculature were detected by immunohistochemistry. Correlation analysis and trend test were used to assess the relationship between ephrinB2/EphB4 expression and clinicopathological features, and between ephrinB2/EphB4 expression and perfusion parameters.

RESULTSPositive expression of ephrinB2 and EphB4 in the NSCLC group was 83.9% and 71.0%, respectively, significantly higher than that in the internal control group (P < 0.01). The expression of ephrinB2 and EphB4 was consistently in tumor parenchyma but differently in tumor vessels. The expressions of ephrinB2 and EphB4 were positively correlated with lymphatic metastasis (P < 0.05). The expression of EphB4 was negatively correlated with blood flow (BF) and blood volume (BV), respectively (P < 0.05). There was a significant positive correlation between ephrinB2 expression and BF (r = 0.516, P = 0.003), and a positive correlation between ephrinB2 expression and BV (r = 0.448, P = 0.013). The expressions of ephrinB2 and EphB4 were not correlated with PEI (P > 0.05). The values of BF and BV in the high and moderate EphB4 expression groups were significantly decreased compared with that in the negative group (P < 0.01). The value of BF in the high ephrinB2 expression group was significantly increased compared with that in the moderately positive group and negative group (P < 0.01). The value of BV in the high ephrinB2 expression group was significantly increased compared with that in the negative group (P < 0.01).

CONCLUSIONThe CT pulmonary perfusion imaging reflects the density difference of blood vessels with functional lumen, and such difference also depends on the quantity and quality of vasculature with functional lumen.

Adult ; Aged ; Blood Volume ; Carcinoma, Non-Small-Cell Lung ; blood supply ; diagnostic imaging ; metabolism ; pathology ; physiopathology ; Ephrin-B2 ; metabolism ; Female ; Humans ; Lung Neoplasms ; blood supply ; diagnostic imaging ; metabolism ; pathology ; physiopathology ; Lymphatic Metastasis ; Male ; Middle Aged ; Perfusion Imaging ; Pulmonary Circulation ; Receptor, EphB4 ; metabolism ; Tomography, Spiral Computed ; methods

Objective To assess the clinical application of contrast-enhanced MR angiography using three-dimensional(3D)time-resolved imaging of contrast kinetics(CE-MRA 3D-TRICKS).Methods TRICKS is a high temporal resolution(2—6s)MR angiographic technique using a short TR(2.8— 4.0 ms)and TE(0.9—1.3 ms),partial echo sampling and the central part of the k-space being updated more frequently than the peripheral part of the k-space.Pre-contrast mask 3D images are first acquired and 15--20 sequential 3D images following bolus injection of Gd-DTPA are then acquired.Results Thirty patients underwent contrast-enhanced MR angiography using TRICKS.Twelve vertebral arteries were well displayed on TRICKS.Seven of them showed normal,bilateral vertebral artery stenosis was shown in 1 case, and unilateral vertebral artery stenosis was shown in 4 wth aecompaning ipsilateral carotid artery bifurcation stenosis in one case.Bilateral renal artery showed normal in 4 cases,and the artery in transplanted kidney showed normal in one case and stenosis in another case.The cerebral artery showed normal in 2 cases, sagittal sinus thrombosis was detected in one case and intracranial arteriovenous malformation in one case. Pulmonary artery displayed normal in 3 cases,pulmonary artery thrombosis was seen in one case and pulmonary sequestration's abnormal feeding artery and draining vein was revealed in one case.The feeding artery in left lower limb fibrolipoma was showed in one case.The radial-ulnar artery artificial fistula stenosis was seen in one case,and left antebrachium hemangioma was showed in one case.Conclusion TRICKS can clearly delineate the whole body vascular system and can reveal any vascular abnormality.It is convenient and with high successful rate,which make it the first method of choice in displaying vascular abnormality.

Objective To establish the cat models of acute morphine dependence, and explore the etiopathogenesis by investigating its electrophysiology and pathology changes of its brain tissue to provide pathological and electrophysiological evidences for clinical treatment. Methods Twelve cats were randomly divided into control group (n=3) and morphine dependent group (n=9); cats in the morphine dependent group were induced by injection of morphine hydrochloride in a daily increased manner, and at the same time, cats in the control group were injected physiological saline. After the success of model making, EEG was performed on the cortex, hippocampus and nucleus accumbens in cats of the 2 groups; the changes of every encephalic region and pituitary gland were observed under light microscope and electron microscope. Results Morphine dependent cat models were successfully established. EEG indicated that physiological waves decreased and pathological waves appeared frequently in cats of the morphine dependent group as compared with those in the normal ones.Physiological examinations showed that the neuronal degeneration, organelle reduction, mitochondria swelling, chromatin margination and karyopycnosis or even nuclear necrosis occurred in the cortex of every encephalic region. Conclusion Pathological changes and brain damages will appear under EEG after long-term use of morphine, which is intimately related to neuron ultramicrostructure changes.

Objective To investigate the effects of duration of untreated psychiatry (DUP) on the white matter integrity in first-episode medication-free patients with schizophrenia. Methods The Chinese version of Nottingham Onset Schedule was used to assess the DUP of 39 first-episode medication-free patients with schizophrenia. According to the median of DUP, the 39 patients were grouped into long-DUP group and short-DUP group. Diffusion weighted images of the 39 patients' whole brains were acquired with a Half-Fourier Acquired Single-Shot Turbo Spin Echo (HASTE) sequence.After being preprocessed with DTI-studio and statistical parametric mapping software (SPM5), the fractional anisotropy (FA) images of the 2 groups were compared by two-sample t-test with SPM5 software. The differences of gender, age, education level and total scores of Positive and Negative Syndrome Scale (PANSS) scores between the 2 groups were also detected. Results No significant difference was noted on gender, age, education level, PANSS scores between the 2 groups (P＞0.05).Subjects of long-DUP group showed significantly reduced FA value in the right anterior cingulate fasciculus (x=8, y=40, z=24) and left prefrontal white matter thresholded (x=32, y=34, z=4) as compared with that of short-DUP group at a level of P＜0.001 (uncorrected). Conclusion Extension of the duration of DUP will reduce the white matter integrity in first-episode medication-free patients with schizophrenia.

PURPOSE: To investigate the feasibility of functional MR imaging of motor language function and its usefulnessin the determination of hemispheric language dominance. MATERIALS AND METHODS: In order to activate the motorcenter of language, six subjects(5 right-handed, 1 left-handed; 3 males, 3 females) generated words. They wererequested to do this silently, without physical articulation, in response to English letters presented visually.Gradient-echo images (TR/TE/flip angle, 80/60/40o; 64x128 matrix; 10mm thickness) were obtained in three axialplanes including the inferior frontal gyrus. Functional maps were created by the postprocessing of gradient-echoimages, including subtraction and statistics. Areas of activation were topographically analyzed and numbers ofactivated pixels in each region were compared between right and left sides. The reproducibility of functional mapswas tested by repetition of functional imaging in the same subjects. RESULTS: Statistically significant activationsignals were demonstrated in five of six subjects, in whom the distribution of those signals was predominantly inboth frontal lobes. Hemispheric lateralization of activation, when activated pixels were compared between bothinferior frontal gyri, was in all cases on the left. In four subjects, functional maps were reproduced in asimilar fashion. CONCLUSION: Our results suggest that functional MR imaging can depict the activation of motorlanguage function in the brain and can be used as a useful non-invasive method for determining the hemisphericdominance of language.
Brain Mapping* ; Brain* ; Frontal Lobe ; Humans* ; Magnetic Resonance Imaging ; Male