Objective To summarize the clinical characteristics and make genetic diagnosis in the patients with hereditary spinocerebellar ataxia type 7 (SCA7).Methods Pedigree analysis and clinical examination were performed in one family with SCA7 by clinical findings,of which retinal morphology and visual electrophysiology were available on part numbers.The polymorphic cytosine adenine guanine (CAG) repeats in the encode region of SCA7 gene were detected by combining polymerase chain reaction with deoxyribonucleic acide (DNA) sequencing on 19 familial numbers and 12 controls.Results 6 patients were identified,who manifesting cerebellar ataxia,decreased visual acuity and colour vision defect,as was pigmentary retinopathy on fundoscopy;The 6 patients had not only extinction of the electroretinogram (ERG) but also remarkably reduced amplitudes of oscillatory potentials and flash-visual evoked potentials. On normal alleles CAG repeat size ranges from 8 to 25 repeats,wherease on mutated alleles of the 6 numbers it ranges from 50 to 97 repeats.The 6 numbers were diagnosised as SCA7 patients.One asymptomatic individual of this family,who displayed a normal allele with 18 CAG repeats and another containing abnormal expantion of 56 repeats,was diagnosised as a asymptomatic carrier whose age maybe still below the age of onset.Conclusion The clinical manifestations of SCA7 are heterogeneous,and the detection of CAG repeats can provide an effective way for the gene diagnosis and the prediction of asymptomatic patients.

Adult ; Angiolymphoid Hyperplasia with Eosinophilia ; diagnosis ; therapy ; Diagnosis, Differential ; Humans ; Male ; Prognosis

OBJECTIVETo study the relaxant effect of ethanol on the isolated rabbit corpus cavernosum and its possible mechanism.

METHODSThe tension of isolated smooth muscle strips was recorded by the platform physiological graphed, and the concentrations of cAMP and cGMP in the rabbit corpus cavernosum were measured by 125I radioimmunoassay.

RESULTSThe 1.25% (V/V) ethanol significantly augmented the corporal relaxation induced by isoprenaline (10(-9) - 10(-5) mol/L). Ethanol-induced relaxation was inhibited by 100 micromol/L and 300 micromol/L SQ22536 (an adenylate cyclase inhibitor). Emax was depressed from (105.12 +/- 3.39) % to (97.00 +/- 2.57) % in the presence of 100 micromol/L SQ22536 or (91.09 +/- 2.42) % in the presence of 300 micromol/L SQ22536. EC50 was increased from (1.18 +/- 0.09)% (V/V) to (1.36 +/- 0.10) % in the presence of 100 micromol/L SQ22536 (P < 0.05) or (1.68 +/- 0.13) % (in the presence of 300 micromol/L SQ22536) (P < 0.05) respectively. Ethanol significantly elevated the level of cAMP but not that of cGMP in the isolated rabbit corpus cavernosum, and it also significantly enhanced the activity of the adenylate cyclase (AC) extracted from the rabbit corpus cavernosum in a dose-dependent manner.

CONCLUSIONEthanol has a relaxant effect on the isolated rabbit corpus cavernosum, which may be associated with the cAMP signaling pathway.

Animals ; Central Nervous System Depressants ; pharmacology ; Cyclic AMP ; metabolism ; Ethanol ; pharmacology ; In Vitro Techniques ; Male ; Muscle Relaxation ; drug effects ; Penile Erection ; drug effects ; physiology ; Penis ; drug effects ; physiology ; Rabbits ; Signal Transduction ; drug effects

OBJECTIVETo investigate the specific T cell subpopulation and the relationship with facial motoneuron in immune deficiency mouse model with facial nerve paralysis, so as to find information for new strategy of facial palsy treatment.

METHODSFirstly, purifying the CD4+ T cell from wild type mouse and reestablishing the immune function of nude mouse by infusing the CD4+ T cell through the tail vein a week before the surgery. Then the all nude mouse (BALB/c background) and wild type mouse (BALB/c background) were subjected to a right facial nerve axotomy. Then the mouse was studied by application and assessment with fluorogold retro tracer at specific time. After collecting the slices of brain stem three days post the operation, the facial motoneurons was observed under fluorescence microscope, then analyzed and counted with the software Image Pro Plus5. 1.

RESULTSThe number of survival facial motoneuron in the group with CD4+ T cell transplantation and control group was (3444.5 +/- 84.2, x +/- s) and (3013.2 +/- 65.3) respectively. There was significant difference of the number of survival facial motoneurons between nude mouse transplanted with CD4+ T cell and PBS at three days post the operation (t = 5.52, P = 0.0003). But there was no significant difference of survival facial motoneurons between nude mouse transplanted with CD4+ T cell and wild type mouse three days post the operation (t = 0.49, P = 0.6347). It was the transplantation of CD4+ T cell that rescued the survival facial motoneuron to the level of wild type.

CONCLUSIONSCD4+ T cell have the ability to rescue the injuring facial motoneuron from death. It may suggest that there is a critical role of the specific T cell subpopulation in facial nerve repair and regeneration.

Animals ; CD4-Positive T-Lymphocytes ; cytology ; Cell Survival ; Cell Transplantation ; Facial Nerve Injuries ; therapy ; Male ; Mice ; Mice, Inbred BALB C ; Mice, Inbred C57BL ; Mice, Nude ; Motor Neurons ; cytology

OBJECTIVETo evaluate the clinical value of activated carbon nanoparticles for guiding lymphadenectomy in lung cancer.

METHODSFourty-two lung cancer patients were divided into two groups: the control group (22 cases) and experiment group (20 cases) who received activated carbon nanoparticles injection around the tumor either by endoscopic injection or intraoperative subserosal injection. The number of dissected lymph node, black-stained lymph node, positive lymph node and the side effect of the procedure were analyzed, respectively.

RESULTSNo severe complication was observed in the experiment group. The operative time was not prolonged significantly in the experiment group either. However, the number of average lymph nodes dissected in the experiment group (25.5) was significantly more than that in the control group (14.6) (P <0.01).

CONCLUSIONLocal injection of activated carbon nanoparticles around the tumor during surgical exploration is effective, safe and easy to do for guiding lymphadenectomy in lung cancer patient.

Adult ; Aged ; Charcoal ; Female ; Humans ; Lung Neoplasms ; pathology ; surgery ; Lymph Node Excision ; methods ; Lymph Nodes ; pathology ; Lymphatic Metastasis ; Male ; Middle Aged ; Nanoparticles ; Pneumonectomy

OBJECTIVETo evaluate the clinical value of endobronchial ultrasound-transbronchial needle aspiration (EBUS-TBNA) biopsy for diagnosis of PET-CT positive mediastinal lymph nodes.

METHODSOne hundred and twenty-six patients with lung cancer undergoing both PET-CT scanning and EBUS-TBNA biopsy in the First Affiliated Hospital of Guanzhou Medical College from July 2008 to August 2010 were included in this study. There were 89 male and 37 female patients with a mean age of 56.3 years (range 34 to 81 years). (18)FDG-PET was considered positive in mediastinal nodes if the PET-CT reported hypermetabolic activity consistent with malignant disease (standardized uptake value > 2.5). All of the patients were clinically followed up.

RESULTSAmong the 126 patients, 185 stations of lymph nodes were punctured. The mean diameter of the nodes was 13.6 mm and the range was 6 - 23 mm. There were no procedural complications. The diagnostic accuracy, sensitivity, and specificity of EBUS-TBNA were 95.7%, 95.7%, and 100%, respectively.

CONCLUSIONSEBUS-TBNA is a minimally invasive, highly effective and accurate, practical and safe procedure for diagnosis of PET-CT positive mediastinal lymph nodes.

Adult ; Aged ; Aged, 80 and over ; Biopsy, Needle ; methods ; Bronchoscopy ; Endosonography ; Female ; Humans ; Lung Neoplasms ; diagnosis ; pathology ; Lymph Nodes ; diagnostic imaging ; pathology ; Lymphatic Metastasis ; diagnosis ; pathology ; Male ; Mediastinum ; diagnostic imaging ; pathology ; Middle Aged ; Positron-Emission Tomography ; Sensitivity and Specificity ; Tomography, X-Ray Computed

OBJECTIVETo explore the difference of lingual arterial CT angiography images(CTA) between obstructive sleep apnea hypopnea syndrome (OSAHS) patients and normal subjects, and to investigate the safety of partial glossectomy guided by lingual arteria CT angiography.

METHODSSeventy-four patients with OSAHS and 10 control adults were included in the study. The lingual upper airway and lingual arterial CT angiography were obtained. The area and the dimensions of lingual upper airway, and the length and thickness of lingua, length of lingual arteria, depth and bilateral lingual arteria spacing were studied. The CT measuring data of OSAHS patients and normal adults were compared. The multinomial logistic regression analysis was used to investigate the main factors which affects the lingual arterial measuring results. Guided by the lingual arterial CT angiography and measuring results, glossectomy was performed in 23 OSAHS patients with lingua hypertrophy.

RESULTSThe area and dimensions of lingual airway of OSAHS patients were less than those of control adults, and the length and thickness of lingua of OSAHS were more than those of control adults (t test, P < 0.05 or P < 0.01). There were no difference in length of lingual arteria and bilateral lingual arteria spacing between OSAHS patients and control adults. The 3 measured points' depth (x(-) +/- s) of lingual arteria of OSAHS patients were (29.1 +/- 5.5) mm, (26.9 +/- 5.1) mm and (25.6 +/- 5.2) mm, respectively, and those of control adult were (23.0 +/- 3.8) mm, (22.6 +/- 2.7) mm and (21.5 +/- 2.6) mm, the depth of lingual arteria of OSAHS was more than that of control adults (t test, P < 0.05 or P < 0.01). The main factors affects lingual arterial depth were body mass index (BMI), lingual length and lingual thickness, unstandardized regression coefficient were 0.255, 0.11 and 0.03, respectively (analysis of variance, F = 6.216, P < 0.05). No damage of lingual arteria and nerve in 23 patients who had expanded glossectomy.

CONCLUSIONSThe study showed statistical difference significance of lingual arterial CTA measurements between OSAHS patients and control adults. Guided with lingual arteria CTA data, the expanded glossectomy in OSAHS patients has proved good safety and high cure rate.

Adult ; Angiography ; Carotid Artery, External ; diagnostic imaging ; Case-Control Studies ; Humans ; Male ; Middle Aged ; Sleep Apnea, Obstructive ; diagnostic imaging ; surgery ; Tomography, X-Ray Computed ; Tongue ; blood supply ; surgery ; Young Adult

OBJECTIVE: To determine the association between asymmetric dimethylarginine (ADMA), an endogenous inhibitor of nitric oxide (NO) synthase, with atherosclerosis in patients with chronic kidney disease (CKD). METHODS: One hundred thirty-eight CKD patients were enrolled in this study. Serum levels of L-arginine, ADMA, and SDMA were measured by high-performance liquid chromatography (HPLC). Common carotid arteries intimae-medial thickness (CCA-IMT), cross-sectional calculated intimae-medial thickness (cIM area) and atherosclerotic plaque were detected by noninvasive high-resolution B-mode ultrasonography. RESULTS: Serum levels of ADMA and SDMA were significantly increased in CKD patients (n=138) compared with age matched healthy subjects (n=42, P<0.01). ADMA and SDMA levels increased with the progression of renal dysfunction and were negatively related to creatinine clearance (Ccr) in pre-dialysis patients (r=-0.315, P<0.05; r=-0.426, P<0.01). Serum levels of ADMA and SDMA in dialysis patients (n=74) were significantly higher than those in pre-dialysis patients (P<0.05). Patients with carotid artery plaques showed significantly higher levels of ADMA compared with those without plaques. Serum levels of ADMA closely correlated with the mean IMT (r=0.471, P<0.01) and cIM area value (r=0.430, P<0.01). These correlations remained significant even after adjusting GFR, age, gender ,and other risk factors for atherosclerosis in the multiple regression analysis. CONCLUSION Serum levels of ADMA increased with the progression of CKD and may play a role in the pathogenesis of accelerated atherosclerosis in CKD patients.
Adult ; Arginine ; analogs & derivatives ; blood ; Carotid Artery Diseases ; blood ; etiology ; Female ; Humans ; Kidney Failure, Chronic ; blood ; complications ; therapy ; Male ; Middle Aged ; Nitric Oxide Synthase ; antagonists & inhibitors ; Renal Dialysis

Objective To explore the structure changes of white matter of the patients with schizophrenia episode in early adulthood by diffusion tensor imaging(DTI) and in order to provide a structural neuroimaging basis for understanding the pathology of schizophrenia.Methods Twenty-six patients with schizophrenia episode in early adulthood in the Second Affiliated Hospital of Xinxiang Medical University from July 2012 to March 2014 were selected as study group and twenty-eight healthy subjects whose age,sex,education were matched with study group were selected as control group.All subjects received structural magnetic resonance imaging and DTI scans.The fractional anisotropy (FA) and the mean diffusivity (MD) of the white matter of the same encephalic region were compared between the two groups by voxel-based analyses.Results The FA values of the right anterior cingulate gyrusthe,genu of corpus callosum,the right limb of internal capsule,the bilateral external capsule,the bilateral posterior of coronal radiate,the right anterior coronal radiate of patients in the study group were significantly lower than those in the control group (P ＜ 0.05).The MD values of the bilateral limbs of internal capsule,the right cingulate gyrus,left superior longitudinal tract,corpus callosum and right anterior coronal radiate of patients in the study group were significantly higher than those in the control group (P ＜ 0.05).Conclusion Schizophrenia patients who episode in early adulthood exist widespread microstructural damage of white matter.These changes may be related to the pathological change of schizophrenia.

The survey of Chinese medicines resources concerns the development of the traditional Chinese medicine industry. It also directly influences the modernization process of traditional Chinese medicines. Owing to lacking of the scientific data on the Chinese medicines resources, it is a extremely urgent work to carry out survey of main Chinese medicine resources in nationwide. This paper explains the meaning and necessity. And it also investigated the survey object, contents, new technologies and methods.
Conservation of Natural Resources ; Data Collection ; Drugs, Chinese Herbal ; Health Resources ; Medicine, Chinese Traditional ; Plants, Medicinal ; growth & development ; Program Development ; methods