Objective To explore the relationship between X - linked spondyloepiphyseal dysplasia tarda (SEDL) gene escaping X chromosome inactivation( XCI) and SEDL phenotype. Methods RT - PCR was performed on total RNA which was isolated from blood samples of patients, female carriers and controls. Patients and female carriers were selected from the pedigree with SEDL caused by the mutation (IVS2 - 2A→C) of the gene. cDNA was analyzed by polyacrylamide gelelectrophoresis(PAGE). Results PAGE data indicateed that female carriers expressed both normal and mutant SEDL mRNA,meaning the SEDL gene escaping XCI. Family investigation showed carrier females in the SEDL pedigree presented no symptoms. Conclusions The SEDL gene escaping X chromosome in-activation is firstly identified from human body. This may explain that carrier females present no symptoms.

· AIM: To investigate whether heat shock protein 27 (HSP27) is induced in retinal ganglion cells (RGCs) in experimental rat glaucoma and whether the induction of HSP27 by intraocular pressure (IOP) elevation can increase serum autoantibody to HSP27 in the model.IOP elevation、Sham and normal groups by SPSS12.0. IOP was raised by electrocoagulating at least 3 episcleral veins and limbal veins on the right eye of each rat in IOP elevation group and its contralateral eye was used as controls. Immunohistochemical staining for HSP27 was performed in RGCs and retinal nerve fiber layer (RNFL) and serum immunoreactivity against HSP27 was detected by means of enzyme-linked immunosorbent assay (ELISA) in three groups.RNFL of the eyes with IOP elevation, while it was expressed weakly in untreated control eyes. Compared with sham and normal groups, serum autoantibody to HSP27 was slightly high at 1wk (P ＞0.05) and significantly increased at 2, 3, 4 and 8wk (P＜0.05) in IOP elevation group.enhanced expression of the endogenous HSP27 might play an important role in glaucomatous optic neuropathy.

Hepatitis B, Chronic ; diagnosis ; therapy ; Humans

Objective: To understand the health risk of drinking water in rural areas of Jinhua and to provide evidence for water sanitary management in rural areas. Methods: Totally 2 032 samples of drinking water in rural areas of Jinhua were collected from 2016 to 2018. According to GB/T 5750-2006 Standard Examination Methods for Drinking Water,five chemical carcinogens（As,Cd,Cr6+,CHCl3 and CCl4）and twelve non-carcinogenic chemicals（Pb,Hg,Se、CN-、F-、NO3-、Al、Fe、Mn、Cu、Zn and NH3-N）were detected. The health risk assessment in rural drinking water was conducted by United States Environmental Protection Agency（USEPA）model. Results: The total health risk,total carcinogenic risk and total non-carcinogenic risk of rural drinking water caused by the seventeen chemicals were 34.8×10-6/a,34.80×10-6/a and 6.65×10-9/a,respectively. The carcinogenic risk of five chemical carcinogens accounted for 99.98% of the total health risk,and the carcinogenic risk of Cr6+ accounted for 89.95% of the total health risk. The total health risk of the fully processed,partially processed and unprocessed water samples were 31.68×10-6/a,34.78×10-6/a and 34.77×10-6/a,respectively. The total health risk of finished water and peripheral water were 34.79×10-6/a and 34.82×10-6/a. Conclusion The health risk of drinking water in rural areas of Jinhuacaused by chemicals is low. The hexavalent chromium has the highest health risk and need more attention to be paid on.

Carcinoma, Hepatocellular ; diagnosis ; therapy ; Guidelines as Topic ; Humans ; Liver Neoplasms ; diagnosis ; therapy ; United States

Sixteen compounds have been isolated from the EtOAc fraction of 95% ethanolic extract of Sophora dunnii through silica gel, Sephadex LH-20 and semi-prerarative HPLC column chromatographies. Their structures were identified on the basis of NMR and MS spectra data as phaseollidin (1), L-maackiain (2), 2-(2',4'-dihidroxyphenyl)-5,6-methylenedioxy benzofuran (3), 8-demethyl-farrerol (4), liquiritigenin (5), genistein (6), 6-methylgenistein (7), 5-O-methyl genistein (8), 7,2',4'-trihydroxys-5-methoxy-isoflavanone (9), 7, 3', 4'-trihydroxy-isoflavanone (10), erythribyssin D (11), calycosin (12), trans-resveratrol (13), cis-resveratrol (14), stigmasterol (15), β-sitosterol (16). Among these, compounds 1-14 and 16 were isolated from this plant for the first time.
Chemical Fractionation ; Drugs, Chinese Herbal ; chemistry ; isolation & purification ; Molecular Structure ; Sophora ; chemistry ; Spectrometry, Mass, Electrospray Ionization

OBJECTIVETo characterize the clinical, laboratory, imaging and pathological features of primary sclerosing cholangitis (PSC) and investigate the impact of ursodeoxycholic acid (UDCA) therapy on patient prognosis.

METHODSThe medical records of 22 patients diagnosed with PSC between 2002 and 2011 were retrospectively reviewed. The PSC diagnosis had been made in patients with suspect biochemical abnormalities following evaluation by magnetic resonance cholangiopancreatography (MRCP) and/or endoscopic retrograde cholangiopancreatography (ERCP) and percutaneous transhepatic cholangiography (PTC). Fibrosis and inflammation were assessed by immunohistochemical analyses of tissue biopsies. Outcome of patients treated with UDCA (13-15 mg/kg/day, oral) were compared to that of patients without UDCA treatment by the X2 or corrected X2 tests.

RESULTSAmong the 22 PSC patients, the majority was male (n=15) and presented with fatigue, dark urine, and body weight loss (n=15). Four cases had ulcerative colitis. At admission, all 22 cases showed elevated levels of alkaline phosphatase[ALP: (348+/-184) U/L], 19 cases showed elevated alanine aminotransferase [ALT: (94.0+/-67.0) U/L] and aspartate aminotransferase [AST: (98.0+/-67.0) U/L], and 15 cases showed elevated levels of total bilirubin (99.0+/-115.0) mumol/L and direct bilirubin (74.4+/-92.4 mumol/L. ERCP examination showed segmental intrahepatic bile duct stenosis with expansion, and stiff and enlarged gallbladder bile ducts, but unclear findings for the common bile ducts and pancreatic ducts. MRCP showed beading of the intrahepatic bile duct, stiffness of the bile duct wall, and dilation of the common bile duct. Fibrosis and inflammation were observed in the bile ducts, along with hyperplasia and the typical features of "onion skin" fibrosis and fibrous obliterative cholangitis. Five of the 10 patients treated with UDCA improved, and seven of the 12 patients in the non-UDCA treatment group improved. There was no statistically significant difference in outcome between the groups (paired X2=0.333, corrected X2=0.083, P more than 0.05).

CONCLUSIONPSC patients were predominantly male and the common clinical manifestations were fatigue, dark urine, and body weight loss. At admission, serum biochemical indicators of cholangitis were increased significantly and subsequent imaging studies confirmed the suspected diagnosis by showing obvious characteristic changes. UDCA treatment did not significantly improve patient prognosis.

Adult ; Cholangiography ; methods ; Cholangiopancreatography, Endoscopic Retrograde ; Cholangitis, Sclerosing ; diagnostic imaging ; pathology ; Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Young Adult

Objective To explore the relationship between serum homocysteine and metabolic syndrome (MS).Methods A cohort with 1680 people involved in a community-based population in Beijing was investigated.Metabolic syndrome was defined by NCEP-ATP Ⅲ criteria.Multivariate logistic regression analysis was used to estimate the odds ratios (OR) of MS.Multiple linear regression analysis was performed to analyze the association between Hcy and characteristic variables.Results Homocysteine was higher in MS population compared to those without MS ( 17.99 μmol/L vs.17.18 μmol/L,P=0.007) after adjusted for age and sex.Levels of homocysteine increased with the presence of MS components (from 0 to 4 or 5) (16.71,16.94,17.62,18.20,17.82 μmol/L respectively,P=0.044 for linear trend).Among the components,groups with larger waist circumference,higher blood pressure and triglycerides showed significantly higher Hcy level than their counterparts.Results from multiple logistic regression analysis revealed that the highest Hcy quartile (Hcy Ⅳ ) was significantly associated with MS.Compared with the lowest Hcy quartile (Hcy Ⅰ ),the adjusted odds ratio of having MS in HcyⅣ was 1.379(1.005-1.892) after adjusting for age,sex,levels on creatinine/estimated glomerular filtration rate (eGFR)/low-density lipoprotein cholesterol (LDL-C) and uric acid,smoking,alcohol intake and exercise.In the partial correlation analyses,Hcy was positively associated with body mass index (BMI),waist circumsternece,blood pressure,LDL-C,triglycerides (TG),uric acid,serum creatinine,eGFR,but inversely associated with high-density lipoprotein cholesterol (HDL-C) and independently with age and sex.In multiple linear regression analysis,age,male sex,BMI,LDL-C,creatinine and uric acid were found to be independently associated with Hcy level.Conclusion There was an association noticed between the MS using NCEP-ATP Ⅲ criteria and the highest quartile level of Hcy in this study.Factors as age and being male,the levels of BMI,LDL-C,creatinine and uric acid were independently associated with the Hcy level.

OBJECTIVETo study the changes of body composition in females patients with human immunodeficiency virus (HIV)-related lipodystrophy (LD) syndrome (HIV-LD).

METHODSTotally 25 female patients who were treated in our hospital from January 2002 to December 2009 were divided into LD group and non-LD group based on the existence of LD. All these patients were receiving highly active antiretroviral therapy (HAART). In addition, 12 healthy women were set as the controls. Total and regional body composition were measured by dual X-ray absorptiometry in all three groups.

RESULTSThe fat mass (FM) was correlated negatively with the duration of HAART (r=-0.431, P=0.029). Multiple linear regression analysis showed that FM had positive correlation with weight and negative correlation with lean mass (LM) (r = - 0. 973, P =0. 000). Total, trunk and leg FM were significantly lower in LD patients than that in controls (P <0.05).Meanwhile, total, trunk and leg bone mineral contents were statistically lower in LD patients than that in controls (P <0. 05). Lumbar bone mineral density of LD patients was lower than that of non-LD patients and controls, and there was significant difference between LD patients and controls (P = 0. 001). LM of LD patients was higher than that of non-LD patients but without statistical difference (P > 0. 05).

CONCLUSIONSThe peripheral and central FM and bone mineral contents remarkably decrease in female patients with HIV-LD. How-ever, HIV-LD patients tend to have higher LM than non-LD patients. .

Adipose Tissue ; metabolism ; Adult ; Body Composition ; physiology ; Bone Density ; physiology ; Female ; HIV-Associated Lipodystrophy Syndrome ; metabolism ; Humans ; Middle Aged ; Young Adult

OBJECTIVETo evaluate the clinical effects of transpedicular eggshell technique in treating thoracolumbar deformity.

METHODSFrom December 2008 to December 2011,36 patients with thoracolumbar deformity were treated with transpedicular eggshell technique. There were 20 males and 16 females with an average age of 45 years old (ranged from 20 to 58). Among them, 5 cases were congenital hemivertebrae deformity, 12 cases were secondary to tuberculotic deformity, 14 cases were post-traumatic deformity with pain, 5 cases were ankylosing spondylitis. Low back pain, living ability, scoliotic Cobb angle were analyzed according to VAS scoring, Oswestry Disability Index (ODI), radiological examination.

RESULTSAverage operative time was 245 min and average bleeding was 1 900 ml in 36 patients. All patients were followed up more than 1 year and obtained bone fusion at 1 year after operation. Preoperative,postoperative at 1 week and 1 year, VAS scoring was 7.2 +/- 1.4, 2.5 +/- 1.0, 1.8 +/- 0.5, respectively; ODI was (72.50 +/- 10.80)%, (42.50 +/- 11.10)%, (22.50 +/- 7.90)%, respectively; kyphosis Cobb angle was (76.31 +/- 2.52) degrees, (23.66 +/- 1.16) degrees, (23.67 +/- 1.16) degrees, respectively; lumbar scoliosis Cobb angle was (71.86 +/- 4.02) degrees, (30.81 +/- 2.33) degrees, (30.82 +/- 2.32) degrees, respectively. Postoperative at 1 week and 1 year,above data had obviously improved than that of preoperative (P < 0.05); and there was no significant difference in Cobb angle between postoperative at 1 week and postoperative at 1 year (P > 0.05).

CONCLUSIONTreatment of thoracolumbar deformity with transpedicular eggshell technique could obtain effective correcting and clinical results.

Adult ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Orthopedic Procedures ; methods ; Thoracic Vertebrae ; abnormalities ; diagnostic imaging ; surgery ; Tomography, X-Ray Computed ; Young Adult