Objective To develop subjective well-being simplify scale (SWBSS),and examine its reliability and validity.Methods A self-report SWBSS containing 13 items was developed on college student and research literature.2374 college students completed SWBSS,Index of Well-Being(IWB),World Health of Organization Quality of Life Brief Scale (WHOQOL-BREF),Beck Depression Rating Scale (BDI) and Self-rating Anxiety Scale(SAS).Results ①Exploratory factor analysis results showed that SWBSS had 1 factor,and accounted for 41.768％ of variance.②Confirmatory factor analysis results indicated that x2/df =2.208,RMR =0.016,RMSEA =0.032 ; GFI =0.986,AGFI =0.974,NFI =0.978,RFI =0.966,IFI =0.988,TLI =0.981,CFI =0.988 ; PGFI =0.552,PNFI =0.639,PCFI =0.646 ; construct reliability =0.901.③The Cronbach'α coefficient,split-half reliability,stability coefficient of SWBSS was 0.876,0.817 and 0.740 (P ＜ 0.01).The SWBSS scores was significantly correlated with the scores of IWB,WHOQOL-BREF,BDI and SAS (r =0.706 ～ 0.892,r =-0.650 ～-0.580,P＜0.01).Conclusion The stability,internal consistency,and validity of the SWBSS are good and meet with psychometric standard.

Adrenal Hyperplasia, Congenital ; complications ; metabolism ; Body Height ; Growth Disorders ; etiology ; Humans ; Risk Factors ; Steroid 21-Hydroxylase ; metabolism

OBJECTIVETo explore the clinical effect and mechanism of long snake moxibustion combined with functional exercise for treatment of ankylosing spondylitis in early stage.

METHODSSeventy-eight cases of ankylosing spondylitis in early stage were randomly divided into an observation group and a control group, 39 cases in each group. The observation group was treated with long snake moxibustion from Dazhui (GV 14) to Yaoshu (GV 2) combined with functional exercise; the control group was treated with oral administration of Sulfasalazine. The effects of the two groups were observed, and contents of erythrocyte sedimentation rate (ESR), tumor necrosis factor alpha (TNF-alpha), intercellular adhesion molecule-1 (ICAM-1) were tested before and after treatment.

RESULTSThe total effective rate of 89.7% (35/39) in the observation group, was superior to that of 76.9% (30/39) in the control group (P<0.05). The contents of ESR, TNF-alpha, and ICAM-1 showed downtrend after treatment in the both groups (P<0.05, P<0.01), and the observation group decreased more obviously (all P<0.01).

CONCLUSIONLong snake moxibustion at Governor Vessel combined with functional exercise for treatment of ankylosing spondylitis in early stage, can significantly improve clinical symptoms, decrease the level of serum inflammatory cytokines, and the effect is superior to that of Sulfasalazine oral administration.

Acupuncture Points ; Adolescent ; Adult ; Combined Modality Therapy ; Cytokines ; blood ; Exercise Therapy ; Humans ; Male ; Middle Aged ; Moxibustion ; Spondylitis, Ankylosing ; blood ; immunology ; therapy ; Young Adult

OBJECTIVETo report the results of clinical characteristics, enzyme activity determination and mutation analysis of GLB1 gene in a Chinese patient with mucopolysaccharidosis (MPS) type IVB (Morquio B disease).

METHODA 14-year-old Chinese boy with MPS type IVB was firstly diagnosed by blood leucocytes galactosamine-6-sulfate sulfatase (GALNS) and β-galactosidase (GLB1) determination, who was characterized by short stature, multiplex skeletal abnormalities, difficulty in walking. PCR-sequencing analysis was applied to detect the mutations in GLB1 of the patient.

RESULTThe patient was characterized by dwarfism, pectus carinatum, kyphosis, normal intelligence, and no neurologic damage of spasms, linguistic capacity and so on. The patient had normal GALNS enzyme activity and very low GLB1 enzyme activity [5.03 nmol/(h·mg) vs. normal value 118 - 413 nmol/(h·mg) ] in leukocytes. A compound heterozygous missense mutations c.442C > T(p.R148C)/c.1454A > G(p.Y485C) in GLB1 gene were detected in this patient. The mutation p.Y485C is a novel variant. With the method of gene analysis of new variant, the mutation p.Y485C was considered to be a pathogenic mutation.

CONCLUSIONThe MPS IVB patient showed severe multiple skeletal deformities, normal intelligence, no neurologic damage and very low GLB1 enzyme activity, who carries compound heterozygous mutations p.R148C/p.Y485C. The mutation p.Y485C in GLB1 gene may be a novel pathologic mutation of MPS type IVB.

Adolescent ; Amino Acid Sequence ; Asian Continental Ancestry Group ; genetics ; Chondroitinsulfatases ; genetics ; metabolism ; DNA Mutational Analysis ; Humans ; Joints ; pathology ; Male ; Molecular Sequence Data ; Mucopolysaccharidosis IV ; enzymology ; genetics ; pathology ; Mutation, Missense ; Pedigree ; Polymerase Chain Reaction ; Radiography ; Spine ; diagnostic imaging ; pathology ; beta-Galactosidase ; genetics ; metabolism

Objective To explore the influence of histamine H3 receptor agonist, IMETIT and simultaneous use of IMETIT and H1-receptor antagonist, Loratadine, on the symptoms of allergic rhinitis (AR) and substance P(SP) secretion and expression of SP receptor (SP-R)mRNA in AR model in guinea pigs. Methods Guinea pigs were divided randomly into 4 groups: AR group (group A) , IMETIT group (group B), Loratadine group (group C) and IMETIT + Loratadine group (group D). The severity of AR was assessed by determining the extent of three markers of allergic symptoms (sneezing, nasal rubbing and nose blocking). The changes in the nasal mucosa were studied by pathological methods. The expression of positive cell of SP was detected by immunohistochemistry. SP-R mRNA expression in nasal mucosa was used to do reverse transcriptive-polymerase chain reaction (RT-PCR). Statistical analysis was performed using a SPSS 13. 0 software. Results In Group B, the mean (i ± s) number of sneeze [ (15. 0 ± 1. 3) times] , scratching nose [ ( 16. 5 ± 2. 3 ) times ] and respiratory frequency [ (76. 3 ± 4. 1 ) times/min ] were significantly improved than those in group A [ (23. 5 ±2. 6) times, (26. 1 ±4. 1) times and (66. 5 ±5. 8) times/min, respectively), P value were 0.000, 0.000 and 0.001, respectively]. The numbers of SP positive cells [(11. 6 ±3. 6)/HP] and SP-R mRNA expression (0.64 ±0.04 ) in group B were reduced significantly compared to group A [ (27. 1 ± 9. 7)/HP, (0. 83 ± 0. 03 ) , P value were 0. 000, 0. 000, respectively]. Sneeze [(10.0 ±2.3) times], scratching nose [(11.8 ± 1.7) times] and respiration [ (90. 0 ±5. 0) times/min] in Group D were improved significantly than those in group B (P value were 0.000, 0. 002 and 0. 000, respectively). SP-positive cells [ (2. 0 ± 1. 7)/HP] and SP-R mRNA expression (0. 52 ±0. 06) in Group D compared with group B were also significantly reduced (P value were 0. 012 and 0. 000, respectively). Pathological changes in guinea pig nasal mucosa in group B, group D were alleviated than those in group A. The combination of IMETIT and Loratadine had a synergistic effect on these effects (F value were 11. 59, 8. 28,5. 61,5.48,6. 50, respectively, P value were 0. 002, 0. 008, 0. 025, 0. 027, 0. 017). Conclusions IMETIT and the combination of IMETIT with Loratadine can effectively relieve the symptoms of AR in guinea pigs, its mechanism may be relevant to reduce SP secretion and the expression of SP-RmRNA, and the two has a synergistic effect. It may be useful as a novel therapeutic approach in nasal allergy.

Objective To investigate the effect of tetramethylpyrazine ( TMP) on synovial cells of adjuvant arthritis ( AA ) , and the possible mechanism in the treatment of AA.Methods Adjuvant arthritis rat model was induced by a single intradermal injection of 0.1 mL of the complete Freund adjuvant into the right hind feet pads of the Spraugue Dawley(SD ) rats.AA rats were treated with various concentrations (30, 60,90 mg· kg -1 ) of TMP and collect the synovial cells.The prolifera-tion of synovial cells was measured by Methyl thiazolyl tetrazolium assay ( MTT).The protein expressions of Bcl -2 and Bax in the synovial cells were detected by Western blotting.The apoptosis rates of synovial cells were evaluated using flow cytometry ( FCM ) analysis.Results Compared with the model group , TMP could inhibit the proliferation of synovial cell in a dose-dependent manner, the expression of Bcl-2 on the groups with TMP treated was significantly increased and the expression of Bax was decreased.TMP can induce the apoptosis of synovial cells in vivo.Conclusion TMP can inhibit proliferation and induce apoptosis in synovial cells and the mechanism could be most likely to involve regulating and controlling the expression of Bcl -2 and Bax.

OBJECTIVETo determine the gene mutation spectrum of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency (PTPSD) in Mainland China.

METHODSThe 6-pyruvoyltetrahydrobiopterin synthesis gene lz(PTS)lz was analyzed in 55 PTPSD patients by using PCR-restriction fragment length polymorphism (PCR-RFLP) and direct DNA sequencing. The relationship between the genotype and phenotype was analyzed.

RESULTSEighteen mutations were identified and the detection rate of gene mutation was 95.28%. Four hot-spot mutations, namely P87S (40.57%), N52S(13.21%), D96N(12.26%) and IVS1nt-291A to G(10.38%) were found in this study, and the first three were associated with severe phenotype. The P87L was reported firstly in Chinese patients, and the Q13X, M80T, IVS4nt-2A to G, L93M and K131N were novel mutations.

CONCLUSIONThe P87S, N52S, D96N and IVS1nt-291A to G mutations are the hot-spots mutations of the PTS gene in Chinese PTPSD patients. Using PCR-RFLP technique to screen the mutations in the PTS gene can increase the efficiency of gene diagnosis.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; DNA Mutational Analysis ; Female ; Genotype ; Humans ; Male ; Metabolic Diseases ; genetics ; Mutation ; Pedigree ; Phenylalanine Hydroxylase ; genetics ; metabolism ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Pregnancy ; Pterins ; metabolism ; Steroid 21-Hydroxylase ; genetics ; metabolism

OBJECTIVETo identify independent risk factors for myocardial infarction (MI) in Chinese men and to develop a model to predict risk profile of an individual suffering MI.

METHODSStudy sample included 5 137 men aged 45.2 +/- 7.8 years who came from a cohort in Beijing Capital Steel and Iron Company, based on the three surveys on coronary heart disease conducted in 1974, 1979 and 1980, respectively. Demographic data and other risk factors, such as life style, medical history, blood pressure, total serum cholesterol level (TC), etc. were collected according to the same protocol in 1980. All the participants were followed up for MI in an average period of 20.84 years until 2001.

RESULTS(1) There were 122 cases with MI identified during the period of follow-up, with an incidence of MI 117.4 per 100 000 person-years. Age of more than 50, smoking, higher systolic and diastolic blood pressure (SBP and DBP) levels, higher TC all were identified as important risk factors of MI. (2) Incidence of MI increased with TC. An increment of 0.52 mmol/L of TC significantly increased relative risk of MI by approximately 40% after adjusted for age, blood pressure and smoking. (3) An increment of 20 mm Hg in SBP or 10 mm Hg in DBP associated with a 40% increase in incidence of MI, adjusting for age, TC and smoking. (4) Smoking was the most risky factors for MI. Smokers had 2.3 times risk of MI, after as compared to non-smokers (or its incidence increased by 137%), after adjusting for blood pressure, TC and age, etc. (5) Incidence of MI increased by 20% with increment of five-year of age in those aged over 50 (P < 0.05), after adjusting for blood pressure, TC and smoking. And, (6) finally, based on multivariate logistic and Cox regression analyses, a model containing several risk factors, such as age, blood pressure, TC and smoking, was developed to predict individual's risk for afflicting MI.

CONCLUSIONSResults of this prospective study showed several established risk factors for MI, including age, blood pressure, TC and smoking all as independent predictors of MI in Chinese men. It is clear and rational that intervention and modification of those traditional risk factors can lead to a decrease in coronary events in Chinese population.

Adult ; Age Factors ; Blood Pressure ; physiology ; China ; epidemiology ; Cohort Studies ; Follow-Up Studies ; Humans ; Incidence ; Iron ; Male ; Metallurgy ; Middle Aged ; Multivariate Analysis ; Myocardial Infarction ; epidemiology ; etiology ; Proportional Hazards Models ; Prospective Studies ; Risk Factors ; Smoking ; adverse effects ; Steel ; Triglycerides ; blood

OBJECTIVECongenital lipoid adrenal hyperplasia (CLAH) is an autosomal recessive inherited disorder, characterized by deficiency of adrenal and gonadal steroid hormones. Recent studies have shown that mutations in the gene for steroidogenic acute regulatory protein (StAR) cause this most severe genetic disorder in steroid hormone biosynthesis. StAR is a mitochondrial protein promotes cholesterol transfer from outer mitochondrial membrane to the inner mitochondrial membrane, where the cholesterol serves as a substrate for P450scc and initiates steroidogenesis. So far, more than 30 different mutations in the StAR gene have been found in the patients with CLAH from various ethnic groups. None of CLAH patients in the Chinese population has been previously reported. In the present study we analyzed the StAR gene in a Chinese patient with CLAH.

METHODSThe patient who was a 19-yr-old phenotypic female, has a 46, XY karyotype. Endocrinological evaluation was performed. Genomic DNA samples were abstracted from the bloods of the patient and his parents. Polymerase chain reaction (PCR), direct DNA sequencing, family analysis and restriction enzyme digestion analysis were used to detect and confirm the mutations of StAR gene.

RESULTSEndocrine evaluation of the patient showed extremely elevated basal concentrations of serum ACTH and gonadotropin and minimal concentration of gonadal steroids. An ACTH stimulation test indicated basal serum dehydroepiandrosterone and 17-hydroxyprogesterone were lower than normal detectable range and had no obvious increase after the ACTH stimulation. Automatic sequencing of 7 exons of the StAR gene with the polymerase chain reaction products of the genomic DNA revealed compound heterozygous for a novel nonsense mutation Q77X in exon 3 and the frameshift mutation 838delA in exon 6. The father carried Q77X mutation and the mother carried 838delA mutation. The restriction enzyme site of the Q77X mutation was examined by endonucleotidase BfaI. Furthermore, this mutation was not found in a series of 20 alleles of normal individuals.

CONCLUSIONQ77X is the novel mutation found in the patient with CLAH. Q77X and 838delA compound mutations could inactivate the StAR function and give rise to clinically manifest CLAH. This case is the first Chinese patient with CLAH identified by molecular genetic analysis. DNA-based analysis of StAR gene will be helpful for the diagnosis of CLAH.

Adrenal Hyperplasia, Congenital ; complications ; genetics ; Adrenal Insufficiency ; etiology ; Female ; Genotype ; Gonadal Steroid Hormones ; deficiency ; Humans ; Mutation ; Phenotype ; Phosphoproteins ; genetics ; Young Adult

OBJECTIVEChitotriosidase (CT) is a plasma biomarker for Gaucher disease (GD), the enzyme activity is usually markedly elevated in plasma of Gaucher patients, and it was reported that levels of plasma chitotriosidase activity was mildly-moderately increased in patients with Niemann-Pick disease (NPD). The aim of this study was to compare chitotriosidase activity using 4-methylumbelliferyl-β-D-N, N', N″-triacetyl-chitotrioside (4MU-C3) with 4-methylumbelliferyl 4-deoxy-β-D-chitobiose (4MU-4dC2) as substrates, and apply chitotriosidase activity measurement to help clinical determination of GD and NPD, and to monitor therapy in GD patients.

METHODPlasma of 45 healthy individuals, 31 patients with GD and 9 patients with NPD type A/B was collected from outpatient clinics of the Department of Pediatric Endocrinologic, Genetic and Metabolic Diseases, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine. Plasma chitotriosidase activity was measured with the substrates 4MU-C3 and 4MU-4dC2 respectively. Determinations were based on the methods described by Hollak et al and Rodrigues et al. Meanwhile, common mutation dup24 of the human chitotriosidase gene was detected.

RESULT(1) Chitotriosidase activity when measured with 4MU-4dC2 gave higher values than 4MU-C3. In the healthy controls chitotriosidase activity was increased 3.7-fold when the 4MU-dC2 was used as substrate as compared with the 4MU-C3 (Z = -4.703, P < 0.001). In the untreated GD patients, the median value was increased 794-fold and 610-fold of the control subjects (Z = -3.823, P < 0.001) when the enzyme was measured with two substrates respectively. In the GD patients during therapy, chitotriosidase activity was increased 134-fold and 79-fold, and after changing therapeutic dose chitotriosidase activity was increased 215-fold and 118-fold of the controls (Z = -2.521, P < 0.05). In the NPD patients chitotriosidase activity was increased 8-fold and 14-fold of the controls (Z = -1.604, P = 0.109). (2) Consistent with the results of chitotriosidase activity, 30 of 85 (35.3%) individuals were homozygotes of dup24 mutation, which are completely chitotriosidase enzyme deficiency. Among GD patients with wild-type and heterozygotes for the dup24 mutation, chitotriosidase activity highly increased in the plasma compared with the controls.

CONCLUSIONThe use of 4MU-4dC2 as substrate makes chitotriosidase activity measurement more sensitive. The determination of plasma chitotriosidase activity is a useful tool to assist the clinical identification of Gaucher disease, and to monitor enzyme replacement therapy (ERT) of non-chitotriosidase deficient GD patients. Chitotriosidase activity determination has no value in the clinical identification of NPD.

Adolescent ; Adult ; Blood Chemical Analysis ; methods ; Case-Control Studies ; Child ; Child, Preschool ; Female ; Gaucher Disease ; blood ; enzymology ; genetics ; Genotype ; Heterozygote ; Hexosaminidases ; blood ; genetics ; metabolism ; Humans ; Infant ; Male ; Middle Aged ; Mutation ; Niemann-Pick Diseases ; blood ; enzymology ; genetics ; Polymerase Chain Reaction ; Sensitivity and Specificity ; Young Adult