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

OBJECTIVETo establish a method for gene delivery in murine renal tissue using lentivirus vector encoding miR-483-5p.

METHODSThirty-five C57BL/6J mice were randomly divided into control group, low-dose treatment group (5 µL each kidney) , and high?dose treatment group (20 µL each kidney), and in the latter two groups, the lentivirus vector encoding miR-483-5p were injected in the renal cortex. The tissue samples were collected at 7 and 21 days after the injection. A transgenic mouse model with inducible systemic overexpression of miR-483-5p was established in TG483 mice. The Cre-loxp system was used to create a mouse model with renal tubule-specific expression of miR-483-5p. The levels of BUN in the mice were detected and HE staining and fluorometric TUNEL assay were used to observe the morphological changes of the kidneys; real-time qPCR was used to detect miR-483-5p expression in the renal cortex.

RESULTSThe mice with overexpression of miR-483-5p had normal renal function without obvious pathological changes or apoptosis in the renal tissue. Renal cortex injection of 20 µL lentivirus resulted in obviously increased level of miR-483-5p at 21 days (1.2∓0.43 vs 8.6∓1.09, P<0.001). miR-483-5p showed a low expression (0.9∓0.09 vs 1.7∓0.19, P<0.05) in TG483 mice and a high expression in the kidney of the transgenic mice established using the Cre-loxp system (1.6∓1.13 vs 12.36∓3.89, P<0.05).

CONCLUSIONThe transgenic mice with renal tubule-specific expression of miR-483-5p show normal renal function, and this model facilitates further study of the role of miR-483-5p in the kidney.

OBJECTIVEMany inborn errors of metabolism have similar presenting clinical manifestations, making early diagnosis difficult. We report our experience with tandem mass spectrometry combined with urine gas chromatography/mass spectrometry as a means of definitively diagnosing inborn errors of metabolism.

METHODSOne hundred and thirty-two children with suspected inborn errors of metabolism but without specific clinical manifestations, admitted to the Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine between June 1, 2003 and September 30, 2006, were studied. Children received routine biochemical examinations, as well as mass spectrometry and gas chromatography-mass spectrometry.

RESULTSFifteen cases (11.5%) were confirmed as having inborn errors of metabolism, including 6 cases of methylmalonic acidemia, 2 of propionic academia, 2 of Type II citrullinemia, 1 of biotinidase deficiency, 1 of tyrosinemia, 1 of maple syrup urine disease, 1 of omithine transcarbamylase deficiency and 1 of very long chain Acyl CoA dehydrogenase deficiency.

CONCLUSIONSThe combined use of tandem mass spectrometry with urine gas chromatography mass spectrometry is useful for early diagnosis of inborn errors of metabolism in children with suspected inborn errors of metabolism but without specific clinical manifestations.

Amino Acid Metabolism, Inborn Errors ; diagnosis ; Child ; Child, Preschool ; Female ; Gas Chromatography-Mass Spectrometry ; methods ; Humans ; Infant ; Infant, Newborn ; Lipid Metabolism, Inborn Errors ; diagnosis ; Male ; Metabolism, Inborn Errors ; diagnosis ; urine ; Tandem Mass Spectrometry ; methods

OBJECTIVEWith the emergence of enzyme replacement therapy and progress in bone marrow transplantation, treatment of mucopolysaccharidosis (MPS) is much more promising than ever. In order to benefit from these therapies, determination of the defective enzyme is the prerequisite for any individual patient. To make definite diagnosis for patients suspected of having MPS clinically, the authors established six lysosomal enzymatic assays for leucocytes, including alpha-L-iduronidase, iduronate-2-sulfatase, N-acetylgalactosamine 6-sulfatase, beta-galactosidase, arylsulfatase B, beta-glucuronidase, which are the corresponding enzymes of type I, type II, type IVA, type IVB, type VI, and type VII, respectively.

METHODSeventy patients suspected of having MPS were enrolled from outpatient clinics of the Department of Pediatric Endocrinologic, Genetic and Metabolic Diseases in Xinhua Hospital. Their ages spanned from 10 months to 25 years with the average age 5.7 years. Of them 49 were male and 21 were female. Leukocytes were isolated with Dextran from peripheral blood of suspected patients. Activity of leukocyte alpha-L-iduronidase, iduronate-2-sulfatase, N-acetylgalactosamine 6-sulfatase, beta-galactosidase, beta-glucuronidase were measured using their specific artificial fluorescent substrates, while arylsulfatase B were determined by colorimetric assay with dipotassium 2-hydroxy-5-nitrophenyl sulfate as the substrate.

RESULTOf the 70 clinically suspected cases totally 47 were confirmed of having mucopolysaccharidosis, of whom 7 cases were type I, 28 cases type II, 12 cases type IVA. These data show that type II is the predominant form of MPS in China, succeeded by MPS type IVA. It was also noted that type II has the most variable clinical manifestations and 8 out of 12 type IVA patients had the unique lax joints.

CONCLUSIONThe present study suggest that type II might be the predominant form of MPS cases in China, followed by type IVA and type I.

Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Iduronate Sulfatase ; metabolism ; Infant ; Infant, Newborn ; Male ; Mucopolysaccharidoses ; classification ; diagnosis ; enzymology ; Young Adult