11?-hydroxylase deficiency is one of the main causes of congenital adrenal hyperplasia (CAH),which is caused by the mutation of CYP11B1 gene that encodes the enzyme.Researches have shown that mutations of CYP11B1 gene would result in decreased activity or inactivation of the enzyme in classical 11?- hydroxylase deficiency,and their relationship between genotype and phenotype of 11?-hydroxylase deficiency is not clear.

Objective: To describe the differences of plasma folate concentration and prevalence of folate deficiency in genders and ages in Chinese adults aged 35 to 64 years. Methods: By cross-sectional analysis, plasma folate concentration was measured in 2 545 adults including men and women by microbiological assay. Results: (1) Men tended to have lower plasma folate concentration and higher prevalence of folate deficiency(9.70 nmol/L, 31.0%) than did women(14.2 nmol/L, 12.5%, P=0.001). (2) Men in South have significantly higher plasma folate concentration and lower prevalence of folate deficiency than in North. The difference of plasma folate concentration was not evident between urban and rural area, but evident in North between in winter and spring. There were no significant differences of prevalence of folate deficiency for men between urban and rural areas in both regions. For women, the differences of plasma folate concentration in areas were significant, which were higher in South and urban, and lower in North and rural areas. (3) Plasma folate concentration increased with age in Southern men. A similar trend for others was not significant. Conclusion: Men have lower plasma folate concentration and higher prevalence of plasma folate deficiency than do women. The distribution of plasma folate concentrations in urban and rural areas seems different between men and women.

Objective To summarize the methods of diagnosis and results of surgical treatment of pancreatic insulinoma. Methods The clinical data of 137 patients with insulinoma treated in our hospital during the past twenty-six years were reviewed retrospectively.Results There were 77 males and 60 females. All of them were characterized by the Whipple′s triad. The sensitivity of ultrasonography, CT and MRI for localization was 35.1%, 67.9% and 58.1% respectively. One hundred and tweenty-six patients underwent operation. Of them, 102 cases had tumor enucleation, 4 cases had pancreaticoduodenectomy, 16 cases had distal panreatectomy, and the other 4 cases had only laparotomy. Of the 122 patients, who underwent resection, the tumor was benign in 118(96.7%) and malignant in 4(3.3%). The diameter of the tumor was less than 2cm in 86.9% of cases. In 98.4% of cases the tumors were single and in 1.6% of cases were multiple. 13.1% of the tumors located in the head, 46.7% in the body, and 40.2% in the tail.Conclusions Whipple′s triad and the measurement of fasting glucose, IRI, IGR, C-peptide, and proinsulin levels contribute to the diagnosis of insulinoma. However, the preoperative tumor localization is still difficult. Tumor enucleation is the technique of choice when feasible. Patients in whom tumor localization is unsuccessful at operation should be carefully evaluated to be certain of the diagnosis, and in general should not undergo blind resection.

Animals ; Bone and Bones ; metabolism ; Energy Metabolism ; physiology ; Humans ; Osteocalcin ; metabolism

Objective To evaluate the effect of health education on endemic diseases in Henan province in 2010.Methods According to the requirements of The Education Program for Endemic Diseases Control in 2009 Henan Province,50 counties (districts) of 18 cities with endemic diseases were selected.Referring to the health education questionnaire in the program,knowledge of endemic diseases were asked of pupils and housewives.Intervention effects were evaluated two months after teaching pupils and housewives in counties,towns,villages and schools with the knowledge of endemic diseases and the questionnaire was used.Results Among 50 counties investigated,5523 pupils and 3206 housewives were surveyed in the baseline according to the requirement,and 5417 pupils and 2891 housewives were surveyed for outcome evaluation.The results showed that after this education,pupils' knowledge about endemic diseases increased from 66.31％(10 987/16 569) in the baseline survey to 93.84％(15 250/16 251),the difference have statistical significant(x2 =3877.78,P ＜ 0.01) ; housewives from 67.56％(6133/9078)to 92.67％(8037/8673),the difference have statistical significant(x2 =1736.33,P ＜ 0.01).After the education,the pupils' knowledge about the iodine deficiency disorders,drinking-water-borne fluorosis and arsenic poisning,coal-burning-borne fluorosis increased from 70.15％ (6263/8928),62.29％(4423/7101),42.96％ (185/270),68.52％ (116/270) to 94.19％ (8344/8859),93.05％ (6376/6852),99.63％ (261/270),96.67％ (269/270),the difference have statistical significant (x2 =1749.85,1939.26,211.83,74.43,all P ＜ 0.01),housewives' knowledge about the iodine shortage diseases,drinking-water-borne fluorosis,the endemic fluorine,the arsenic poisoning increased from 73.27％ (3330/4545),62.79％ (2677/4263,30.37％ (85/135),62.96％(41/135) to 93.96％(4228/4500),91.08％(3555/3903),97.04％(123/135),91.11％(131/135),the difference have statistical significant (x2 =751.03,924.65,129.75,30.23,all P ＜ 0.01).Conclusions Health education intervention has a marked effect in increasing the peoples' knowledge of endemic diseases.Therefore health education should be enhanced in the future.

OBJECTIVE: To investigate the impact of radiofrequency coblation for the treatment of Tl glottic cancer. METHOD: Six patients with early-stage glottic cancer (Tla = 5, Tlb = 1) treated with coblation were enrolled in this study. The outcome of the surgery were analyzed. RESULT: No complication happened during the follow-up of 6 to 12 months. All patients achieved satisfactory post-operative voice. CONCLUSION Although current probe design limits the potential for resection of some tumors, radiofrequency coblation appears to be an attractive evolving technique for the endoscopic resection of selected glottic cancer.
Aged ; Carcinoma, Squamous Cell ; surgery ; Catheter Ablation ; methods ; Glottis ; pathology ; Humans ; Hypothermia, Induced ; Laryngeal Neoplasms ; surgery ; Male ; Middle Aged ; Treatment Outcome

Objective To evaluate the value of three-dimensional contrast-enhanced angiography (3D CE MRA) and MRI in the diagnosis and delineation of cerebral arteriovenous malformation(AVM). Methods Twenty-two cases of cerebral AVM examined by MRI and 3D CE,MRA.DSA was performed in 17 cases.A three-dimensional fast low angle shot (3D FLASH) was used for 3D CE MRA with Gd-DTPA dosage of 0.2 mmol per kilogram for body weight.The source images were subtracted from mask images and transferred to computer workstation using three-dimensional reconstruction.Results Among 22 cases, 19 showed typical AVM“flow void”signal on MR images.3D CE MRA clearly displayed the nidus,feeding artery and draining vein.All of the foci were above the cerebellum tentorium.13 located within one lobe, 3 exceeded one lobe and 3 situated in the deep of cerebrum.Feeding arteries were derived from single artery in 9 cases,and mixed supply in 10 cases.Draining veins diverted to sagittal sinus and/or sigmoid sinus in 6,deep cerebral veins in 8 and mixed in 5.In the 14 cases examined by both DSA and 3D CE MRA,3D CE MRA was superior to DSA in three-dimensional demonstration of the nidus,but inferior to DSA in demonstration of some details.3D CE MRA depicted 78.4% feeding arteries and 84.0% draining veins in addition,tiny pathologic blood vessels smaller than 1 centimeter were detected by DSA,but could not be found by 3D CE MRA and were only shown as hemorrhage lesions on MR images in 3 cases.Conclusion As a non-invasive technique,3D CE MRA combined with MRI is accurate in diagnosis and localization of cerebral AVM,and should be used as the first choice for those clinically suspected of AVM.But DSA remains needed for demonstration of details and tiny AVM.

Twenty-four soil samples of eight ecosystem-types around the Yellow River source area were investigated for the number and specific composition of soil dematiaceous hyphomycetes by dilution plate technique. And then the co-relationship between genus species of soil dematiaceous hyphomycetes and ecosystem-types was analyzed. The results show that the amount and species distribution of soil dematiaceous hyphomycetes had an obvious variability in different ecosystem-types, and that the dominant genus species varied in the eight ecosystem-types studied, with Cladosporium being the dominant genus in seven of the eight ecosystem-types except wetland. The index of species diversity varied in different ecosystem-types. The niche breadth analysis showed that Cladosporium had the highest niche breadth and distributed in all ecosystem-types, while the genera with a narrow niche breadth distributed only in a few ecosystem-types. The results of niche overlap index analysis indicated that Stachybotrys and Torula, Doratomyces and Scolecobasidium, Cladosporium and Chrysosporium had a higher niche overlap, whereas Arthrinium and Gliomastix, Phialophora and Doratomyces, Oidiodendron and Ulocladium had no niche overlap.
China ; Ecosystem ; Fresh Water ; microbiology ; Mitosporic Fungi ; classification ; isolation & purification ; Soil Microbiology ; Species Specificity

OBJECTIVETo screen the mutation of the beta and gamma subunits of epithelial sodium channel gene SCNN1 in two families with Liddle's syndrome.

METHODSTwo patients clinically diagnosed as Liddle's syndrome and their family members were enrolled. Peripheral blood samples were collected and total genomic DNA was prepared. Polymerase chain reaction (PCR) was used to amplify the exon 13 of the SCNN1B and SCNN1G gene. PCR products were purified and subjected to direct DNA sequencing.

RESULTSA heterozygous nonsense mutation at codon 564 of the SCNN1B gene from CGA(Arg) to stop codon(TGA) was detector in the proband of family 1. More importantly, a novel heterozygous nonsense mutation of CAG(Gln) to stop codon TAG at codon 567 of the SCNN1G gene was detected in the proband and another two members of family 2.

CONCLUSIONScreening for specific mutations of the SCNN1 gene in relatives of patients with Liddle's syndrome can be used to identify the previously unrecognized cases within the family. A new nonsense mutation(Q567X) of the SCNN1G gene is likely the cause of Liddle's syndrome in family 2.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Case-Control Studies ; DNA Mutational Analysis ; Epithelial Sodium Channels ; genetics ; Female ; Humans ; Liddle Syndrome ; genetics ; Male ; Mutation ; genetics ; Pedigree ; Young Adult

Comparative effectiveness research (CER) has been regarded as a hot topic in health care recently. Many medicalresearchers currently deem CER as a potential powerful instrument for improving the quality of healthcare and cut medical cost. However, in the past, classic efficacy studies are always focusing on comparing one new intervention with placebo under complete controlled environment. Now CER turns to comparing different interventions directly in real world of routine practice. This article reviewed a series of literature about the design, implementation and analysis of CER in order to give a clue for Chinese medicine researchers in future.
Comparative Effectiveness Research ; methods ; Humans ; Medicine, Chinese Traditional ; Research Design ; Statistics as Topic