d, suggesting that the mutation rate of SDHB gene in sporadic Chinese patients with pheochromocytoma might be around 3%.

Infection rate and in-hospital treatment were two prognostic factors for SAP recurrence.

Objective To identify the gene mutation of G protein?-subunit (Gsct) in multiple affected tissues of a patient with McCune-Albright syndrome.Methods The peripheral blood,bone tissue,lesion skin and pleura samples of the patient were collected.Genomic DNA was isolated from these samples,and PCR and direct sequencing were performed.Results The peripheral blood and bone tissue of the patient showed a mutation R201C in Gs?gene.No mutation was detected in the skin and pleura samples of the patient.Conclusion The gene diagnosis confirms that the patient has a classical R201C mutation in Gs?gene and multiple tissues are affected.The mutation occurs early in embryogenesis and clinical features can be polymorphic.

Primary pigmented nodular adrenal disease (PPNAD) is a kind of autosomal dominant inherited disease. Patient in the study presented with Cushing's syndrome, and clinical and pathological diagnosis of PPNAD was confirmed. It is now confirmed that there are two relevant genes and their mutations may lead to PPNAD. This study showed no mutations in the patient, surpecting if there would be an alternative mechanism or a new gene in playing the role.

Objective To explore whether autoreactive antibody presents in patients with sporadic idiopathic hypoparathyroidism(sIHP).Methods The subjects including 26 patients with sIHP and 112 genealogical members as well as 60 age-and sex-matched healthy controls.Anti-parathyroid antibodies in the sera were assayed by indirect immunofluorescence.The levels of calcium,phosphorus and magnesium as well as intact parathyroid hormone(iPTH)in the sera were tested.Results Positive autoantibodies against parathyroid tissue were demonstrated in 10 patients(38%)with sIHP,significantly higher than that of in genealogical members(10%,?~2=13.42,P

OBJECTIVETo explore the therapeutic effect and mechanism of abdominal acupuncture for cervical spondylosis of vertebral artery type.

METHODSThirty cases of cervical vertigo, in which the color ultrasonography indicated vertebral arterial blood insufficiency, were treated with abdominal acupuncture therapy. The points were Zhongwan (CV 12), Qihai (CV 6), Guanyuan (CV 4), Xiawan (CV 10), Shangqu (KI 17) and Huaroumen (ST 24). The treatment was given once every day and five continuous treatments made one session. Separately, before treatment and in the 1st and 5th treatments, the cervical vertigo symptom and functional assessment scales were adopted for scoring. Simultaneously, the color ultrasonography was applied to observe the blood flow changes of the bilateral cervical arteries.

RESULTSExcept the score for headache in the 1st treatment, the scores in cervical vertigo and function assessment scale in the 1st and 5th treatments were all improved significantly in 30 patients as compared with those before treatment (P < 0.01, P < 0.05). In the 1st and 5th treatments, on the affected side, the vertebral artery diameter, mean velocity and blood flow per minute were all improved significantly as compared with those before treatment (all P < 0.01). In one session treatment, the total effective rate was 100.0% (30/30) and the curative rate was 60.0% (18/30).

CONCLUSIONAbdominal acupuncture therapy not only relieves the clinical symptoms, but also improves vertebral arterial blood supply for the patients of cervical spondylosis of vertebral artery type.

Abdomen ; Acupuncture Points ; Acupuncture Therapy ; Adult ; Aged ; Female ; Hemodynamics ; Humans ; Male ; Middle Aged ; Regional Blood Flow ; Spondylosis ; physiopathology ; therapy ; Treatment Outcome ; Vertebral Artery ; physiopathology ; Young Adult

AIMTo explore the influence of hyperbaric oxygen (HBO) preconditioning on anoxic resistance and anti-weariness at high altitude.

METHODS(1) SOD, MDA, NO, NOS, BLA and BUN of 20 youths living at 3 700 m altitude for half year were tested, then they were divided into group A (n=10, received HBO pretreatment twice) and group B (n=10, received HBO pretreatment 5 times) randomly. They were asked to pedal the EMG-bicycle-ergometer at the second and eighth day, and then the same items were tested. (2) 29 youth who would go to Astronomical Spot (5200 m) were randomly divided into group HBO (n=11, received HBO pretreatment once per day for 2 days at Yecheng (1400 m)) and comparison group (n=10). When they reached I Astronomical Spot, thematic biochemical index were investigated. (3) When 20 youth reached Thirty Milepost Barracks (3700 m) at the second day in their way to Immortal Gulf (5380 m) from Yecheng were randomly divided into group HBO (n=10, received HBO pretreatment once per day for 3 days) and comparison group (n=10). When they reached Immortal Gulf, the thematic biochemical index were investigated.

RESULTS(1) SOD, NO, NOS were increased and BLA, BUN, MDA were decrease in group A compared with that in group B until the eighth day, there was significant difference (P < 0.01). (2) SOD, NO, NOS were increased and BLA, BUN, MDA were decrease in group HBO compared with that in comparison that in group, there was significant difference between groups (P < 0.01, or P < 0.05).

CONCLUSIONHBO could enhance the activity of anti-oxidase and the cleared ability of lactic acid, and the effect of anti-weariness could last for 8 days.

Altitude ; Altitude Sickness ; prevention & control ; Fatigue ; prevention & control ; Humans ; Hyperbaric Oxygenation ; methods ; Hypoxia ; physiopathology ; Ischemic Preconditioning ; methods ; Male ; Oxidative Stress ; drug effects ; physiology ; Superoxide Dismutase ; metabolism ; Young Adult

Objective To investigate the effects of the genetic polymorphisms in osteoporosis-related genes and the gene-gene interaction on bone mineral density (BMD) and osteoporotic fractures.Methods Thirty-nine single nucleotide polymorphism (SNP) sites in 23 genes that related to bone mineral density ( BMD ) and osteoporotic fractures were scanned in 683 Shanghai Han postmenopausal women.TaqMan SNP Genotyping Assay or Sequenom Mass ARRAY System were applied for genotyping analysis.The relation of these SNP sites with BMD and osteoporotic fractures were analyzed.Results Altogether,12 SNPs in 9 candidate genes ( rs7524102 and rs6696981 in ZBTB40 gene,rs9479055 in ESR1 gene,rs6993813,rs6469804,and rs11995824 in OPG gene,rs3736228 in LRP5 gene,rs1107748 in SOST gene,rs87938 in CTNNB1 gene,rs1366594 in MEF2C gene,rs7117858 in SOX6 gene,and rs10048146 in FOXL1 gene) were associated with BMD at lumbar spine(L1-L4) or total hip.In addition,rs11898505 in SPTBN1 gene was related to osteoporotic fractures ( OR 0.522,95％ CI 0.326-0.838,P =0.007 ).Gene-gene interaction involving rs1038304 in ESR1 gene,rs1366594 in MEF2C gene,and rs10048146 in FOXL1 gene was associated with osteoporotic fractures ( P =0.010 7 ).Conclusions ( 1 ) SNPs in gene ZBTB40,ESR1,OPG,LRP5,SOST,CTNNB1,MEF2C,SOX6,FOXL1,and SPTBN1 are associated with BMD of lumbar spine or total hip,as well as osteoporotic fractures.(2) Gene-gene interaction involving rs1038304,rs1366594,and rs10048146may contribute to the risk of osteoporotic fractures.

OBJECTIVETo explore the effects of iptkalim on myocardial enzymes and free radicals metabolism with hypoxic pulmonary hypertension (HPH), in order to provide evidence for the mechanism of iptkalim on clinical treat.

METHODS110 young men stayed at high altitude above 5 000 m were divided into iptkalim group (n = 74) and placebo group (n = 36), aminotransferase (ALT), aspartate aminotransferase (AST), gamma-glutamyltransferase (gamma-GT), creatine kinase (CK), lactate dehydrogenase (LDH), superoxide dismutase (SOD), malonaldehyde (MDA), nitric oxide(NO) and nitric oxide synthase(NOS) were detected before and after took medicines for 6 mouths.

RESULTSAfter took medication for 6 mouths, ALT, AST, gamma-GT, CK and LDH were reduced, SOD, NO, and NOS were increased, MDA were reduced, there were very significant difference (P < 0.05).

CONCLUSIONOxygen free radicals have taken part in the process of HPH, iptkalim have the effect of anti-peroxidation of lipid and protect myocardial cells stress injured by hypoxia which related with mitochondrial membrane and cell membrane's K(ATP) channel activation.

Adolescent ; Adult ; Altitude ; Creatine Kinase ; blood ; Free Radicals ; metabolism ; Humans ; Hypertension, Pulmonary ; blood ; etiology ; metabolism ; Hypoxia ; complications ; L-Lactate Dehydrogenase ; blood ; Male ; Myocardium ; enzymology ; Potassium Channels ; agonists ; Propylamines ; pharmacology ; Young Adult

Objective To investigate the discrepancy of aldosterone synthesis process and potential regulation abnormality between aldosterone-producing adenoma(APA) and normal adrenal(NA) with microarray. Methods cRNA probes labelled with biotin were prepared from mRNA of APAs(APA group,n=10) or NAs(control group,n=7).The probes were hybridized with oligonucleotide microarray of target gene expression profile.Expression levels were read from the fluorescent intensity scanned.The difference of gene expression profile was analyzed by computer software.Differentially expressed genes were verified by real-time RT-PCR. Results Compared with control group,97 genes were up-regulated and 168 genes were down-regulated in APA group.In the genes related to steroid hormone synthesis,only CYP11B2 was significantly up-regulated.In the physiologic regulators of aldosterone synthesis,CYB5A,CYP17A1,DUSP1 and HMGCR were down-regulated,while RENBP and NR1H2 were up-regulated.As a key enzyme in the biosynthesis of cortisol,the expression of CYP17A1 gene was inhibited. Conclusion Among the aldosterone synthesis related enzyme and corresponding regulatory genes in APA,CYP11B2 may be a key synthetase,and the suppressed physiologic regulators of aldosterone synthesis may indicate the existence of neoplastic modulation.