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 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.

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.

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

Calcium-Binding Proteins ; deficiency ; Humans ; Infant ; Male ; Organic Anion Transporters ; deficiency ; Phenylketonurias ; complications ; diagnosis ; etiology

OBJECTIVETetrahydrobiopterin (BH(4)) responsive phenylalanine hydroxylase (PAH) deficiency is one of the forms of phenylketonuria (PKU). The aim of this study was to screen and diagnose BH(4) responsive PAH deficiency, to further understand its clinical characteristics, and to provide evidence for applying BH(4) drug therapy.

METHODSBH(4) 20 mg/kg loading test was performed in 73 patients with hyperphenylalaninemia (HPA) (47 males and 26 females), the mean age was 1.93 months. Combined phenylalanine (100 mg/kg) and BH(4) loading test was performed if patients had a basic blood phenylalanine concentration less than 600 micromol/L. The urine pterin profile analysis and the dihydropteridine reductase (DHPR) activity in dry blood filter spot were analyzed simultaneously. The patients with BH(4) responsive PAH deficiency were treated with BH(4) tablets (10 - 20 mg/kg x d) under normal diet for 6 to 7 days. Their blood phenylalanine concentration was checked.

RESULTS(1) The characteristic curve of phenylalanine level was observed in 73 patients after BH(4) loading test. Twenty-two patients were diagnosed as classic phenylketonuria (PKU), 39 were moderate PKU and 12 were BH(4) deficiency. (2) Twenty-two (56.4%) of 39 moderate PKU patients were found to be responsive to BH(4) and the blood phenylalanine was decreased by at least 30%. (3) Six patients with BH(4) responsive PAH deficiency were treated with BH(4) for 6 to 7 days, 4 patients had a normal phenylalanine concentration after 10 mg/kg BH(4) supplement, while other 2 patients needed a treatment of BH(4) at 20 mg/kg.

CONCLUSIONSome patients with moderate PKU caused by phenylalanine hydroxylase deficiency were responsive to BH(4). Their blood phenylalanine significantly decreased after oral BH(4) loading. The BH(4) loading test is an effective diagnostic method to detect BH(4) sensitivity in PKU patients. BH(4) responsive PAH deficiency patient could be treated with BH(4) to replace low-phenylalanine diet treatment totally or partially, which may provide an optional treatment for the disease and improve the quality of life of the patients.

Biopterin ; analogs & derivatives ; deficiency ; therapeutic use ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Phenylalanine Hydroxylase ; deficiency ; Phenylketonurias ; diagnosis ; drug therapy

OBJECTIVEThe diagnosis of organic acidemia is very difficult and needs special test methods. Recently the tandem mass spectrometry has been used in screening for and diagnosis of this inborn error of metabolism. The aim of the present study was to utilize a dry blood filter paper method for acylcarnitines profiles test using tandem mass spectrometry in diagnosis of organic acidemias in high risk children.

METHODOne thousand patients (642 were males and 358 females) with high risk of inborn error of metabolism were studied, the median of their age was 2 years. The blood specimens were collected on filter paper, punched and extracted into methanol solution with stable isotope labeled internal standards of acylcarnitine, then derivatized with butanolic-HCI. After preparation, the samples were analyzed by tandem mass spectrometry. The volume of the acylcarnitines was calculated with special software.

RESULTSForty patients (4.0%) were diagnosed as organic acidemias among the 1000 patients, including 20 methylmalonic acidemia, 6 propionic acidemia, 3 isovaleric acidemia, 3 glutaric acidemia type I, 3 glutaric acidemia type II, 2 biotinidas deficiency, 1 3-methylcrotonyl-CoA carboxylase deficiency, 1 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, and 1 beta-keto thiolase deficiency. The common clinical symptoms and signs of these patients were motor and mental developmental retardation, spasm, lethargy, coma, hypotonia, vomiting, and feeding difficulty. Routine laboratory tests suggested metabolic acidosis, hyperammonemia, hyperlactacidemia, hypoglycemia, anemia, and abnormal liver function.

CONCLUSIONA part of organic acidemias can be rapidly diagnosed by tandem mass spectrometry through acylcarnitine profiles analysis in dry blood filter paper. Combination of tandem mass spectrometry with urine gas chromatography mass spectrometry would improve more accurate diagnosis of organic acidemias.

Adolescent ; Child ; Child, Preschool ; Female ; Filtration ; Gas Chromatography-Mass Spectrometry ; Glutarates ; blood ; Humans ; Infant ; Male ; Metabolism, Inborn Errors ; diagnosis ; Methylmalonic Acid ; blood ; Pentanoic Acids ; blood ; Propionic Acidemia ; diagnosis ; Tandem Mass Spectrometry ; methods