Diagnostic whole body scan (Dx-WBS) with 131I and serum Tg level are the main parameters to evaluate the effectiveness of thyroid remnant ablation in patients with DTC.Undetectable Tg and positive radioiodine uptake in the thyroid bed (Tg-/Dx-WBS+) may be found in some patients.However,the clinical significance is uncertain.A small amount of thyroidal remnant,a small DTC lesion,increased expression of NIS gene and autoimmune inflammation may all result in Tg-/Dx-WBS+.A wait-and-watch approach without rushing for high-dose radioiodine treatment might be a more reasonable approach for these patients.

Objective To observe the changes of β-catenin expression in human skin fibroblasts (HSFs) after induced by oxidative stress, and to explore its possible roles in oxidative stress-induced premature senescence (SIPS) of HSFs. Methods Fibroblasts were isolated from the foreskin of a child and subjected to a primary culture. The fibroblasts of second to fourth passage were treated with various concentrations of H2O2 for 2 hours to establish an optimized model of stress-induced premature senescence, β-galactosidase assay kit was used to detect the activity of β-galactosidase in H2O2rinduced HSFs, RT-PCR and Western blot to measure the mRNA and protein expressions of β-catenin in control and senescent HSFs. Results Premature senescence of HSFs could be induced by the treatment with H2O2 of 150 μmol/L for 2 hours. The proportion of β-galactosidase-positive cells was (2.97 ± 0.25)% in control HSFs and (37.67 ± 1.53)% in senescent HSFs (P< 0.01). A significant increase was observed in the β-catenin/GAPDH protein ratio and β-catenin/GAPDH mRNA ratio in control HSFs compared with the senescent HSFs (0.62 ± 0.03 vs. 0.31 ± 0.01, t = 14.97, P < 0.01; 0.59 ± 0.04 vs. 0.29 ± 0.30, t = 10.06, P < 0.01). Conclusions The two-hour treatment with H2O2 of 150 μmol/L could induce the premature senescence of HSFs, and there is a notable decrease in the expression of β-catenin in prematurely senescent HSFs induced by oxidative stress, implying that β-catenin is an important target gene for the regulation of skin aging.

Objective To investigate the effect of highly expressed β-catenin on the proliferative activity of and expressions of two apoptosis-related genes Bcl-2 and Bax by human skin fibroblasts induced by hydrogen peroxide (H2O2).Methods Normal human skin fibroblasts (HSFs) from child foreskin were divided into three groups:empty vector group transfected with the empty vector pcDNA3.1,H2O2 group transfected with the empty vector pcDNA3.1 followed by treatment with H2O2 (150 μ mol/L) for 2 hours,β-catenin group transfected with pcDNA3.1-β-catenin followed by treatment with H2O2 (150 μ mol/L) for 2 hours.Subsequently,methyl thiazolyl tetrazolium (MTT) assay was conducted to estimate proliferative activity of fibroblasts,flow cytometry to detect cell apoptosis,and reverse transcription (RT)-PCR and Western blot were performed to measure the mRNA and protein expressions of Bcl-2 and Bax respectively.The relative expression levels of genes were expressed as the ratios between the targets and GAPDH.Results Significant differences were found between the empty vector group,H2O2 group and β-catenin group in cellular proliferative activity (expressed as absorbance value at 570 nm:0.792 ± 0.012 vs.0.462 ± 0.012 vs.0.521 ± 0.015,P＜ 0.01) and apoptosis rate (3.407％ ± 0.217％ vs.24.555％ ± 1.793％ vs.15.360％ ± 0.755％,P＜ 0.01).Both mRNA and protein expression levels of Bcl-2 were significantly lower in the H2O2 group (0.333 ± 0.003 and 0.336 ± 0.004 respectively) than in the empty vector group (0.507 ± 0.013 and 0.514 ± 0.021,respectively,both P ＜ 0.01) and β-catenin group (0.404 ± 0.006 and 0.411 ± 0.005,respectively,both P ＜ 0.01).Increased expression levels of Bax mRNA and protein were observed in the H2O2 group compared with the empty vector group and β-catenin group (mRNA:0.451 ± 0.002 vs.0.303 ± 0.005 and 0.339 ± 0.012,protein:0.460 ± 0.008 vs.0.320 ± 0.013 and 0.346 ± 0.013,all P＜ 0.01).Conclusion High expression of β-catenin can raise proliferative activity of aging HSFs.

Objective To analyze the clinical efficacy of physical vibration lithecbole in treatment of urinary calculi. Methods Ana-lysed the efficacy of 80 patients who underwent physical vibration lithecbole only or combination therapy with surgery in urinary calculi in our hospital from February 2014 to July 2014. Result There were 1 to 4 times calculi discharge among the 80 patients. One month after the sur-gery, the calculi discharge rate was 33. 3% and the calculi clean rate was 22. 2% in the upper ureteral; the calculi discharge rate was 16. 7%and the calculi clean rate was 50. 0% in the distal ureteral; the calculi discharge rate was 40. 0% and the calculi clean rate was 23. 3% in the upper renal calyx;the calculi discharge rate was 27. 7% and the calculi clean rate was 38. 8% in the middle renal calyx;the calculi discharge rate was 60. 0% and the calculi clean rate was 20. 0% in the lower renal calyx. One month after the surgery of physical vi-bration lithecbole combined with Holium laser lithotripsy, the calculi discharge rate was 52. 1% and the calculi clean rate was 39. 1%. Con-clusion Physical vibration lithecbole is a noninvasive treatment for urinary calculi. It has good efficacy in calculi discharge and it can relieve the pain caused by calculi.

In this case-control study, the relationship between M196R (676 T-->G) variant in exon 6 of tumor necrosis factor receptor type 2 ( TNFR2 ) gene and genetic susceptibility of acne vulgaris in Han Chinese was investigated. A total of 93 acne vulgaris patients and 90 healthy subjects from Han Chinese ethnic group were enrolled in this study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was adopted to analyze the single nucleotide polymorphisms (SNPs) of TNFR2 M196R gene, and to examine the association between acne vulgaris and the polymorphisms in TNFR2 M196R gene. The relationship between different genotypes and the susceptibility of acne vulgaris was analyzed. The results showed that there was significant difference in the frequency of the genotype M/R+R/R in the TNFR2 M196R genetic polymorphisms between acne vulgaris patients and healthy controls (chi(2)=4.343; P=0.037; OR=1.899; 95% CI: 1.036-3.445); and there was significant difference in the allele (R) frequency between acne vulgaris patients and healthy controls (chi(2)=5.588; P=0.018; OR=1.838; 95% CI: 1.105-3.057). It was concluded that the high frequency of 196R allele in the functional M196R polymorphism of TNFR2 is a risk factor for acne vulgaris in Han Chinese.

Objective To observe the effect of high expression of β-catenin on senescent phenotypes in normal human skin fibroblasts (NHSFs) induced by hydrogen peroxide (H2O2).Methods Cultured NHSFs were classified into three groups: β-catenin + H2O2 group transfected with a recombinant plasmid pcDNA3.1-β-catenin and treated with H2O2 of 150 μ mol/L for two hours,H2O2 group transfected with the empty vector pcDNA3.1 and treated by H2O2 of 150 μmol/L for two hours,and vector group transfected with the empty vector pcDNA3.1 and receiving no treatment.Reverse transcription (RT)-PCR and Western blot were performed to quantify the mRNA and protein expressions of β-catenin in these cells,microscopy to observe the morphological changes of cells.The activity of senescence-associated β-galactosidase (SA-β-Gal) and superoxide dismutase (SOD) as well as the level of reactive oxygen species (ROS) were detected by using commercial kits.Data were processed with the software SPSS 13.0,and analysis of variance (ANOVA) was conducted for multiple group comparisons.Results The expression of β-catenin was significantly upregulated in NHSFs transfected with the recombinant plasmid pcDNA3.1-β-catenin.Both the mRNA and protein expression levels of β-catenin described as β-catenin/ glyceraldehyde-3-phosphate dehydrogenase (GAPDH) ratio were significantly lower in the H2O2 group compared with the vector group (0.2900 ± 0.0195 vs.0.5963 ± 0.0400,0.3130 ± 0.0171 vs.0.6190 ± 0.0090,both P ＜0.05),while the protein expression level of β-catenin was statistically higher in the β-catenin + H2O2 group than in the H2O2 group (0.7953 ± 0.0074 vs.0.3130 ± 0.0171,P ＜0.05).Significant differences were observed between the vector group,H2O2 group and β-catenin+ H2O2 group in the percentage of SA-β-gal-positive cells ((2.9667 ± 0.2517)％ vs.(37.70 ± 0.9539)％ vs.(29.330 ± 0.6359)％,P ＜0.05),ROS activity ((50.9963 ±9.2688)％ vs.(109.9190 ± 11.5215)％ vs.(75.1063 ± 3.0138)％,P ＜0.05),and SOD levels ((88.0856 ±3.9181) vs.(35.5585 ± 3.4438) vs.(61.7029 ± 3.1716) U/mg,P ＜0.05).Conclusion The overexpression of β-catenin can downr_egulate the activity of SA-β-Gal and ROS level,but enhance the activity of SOD.

OBJECTIVETo characterize molecular and cytogenetic abnormalities in six 46, XX males, and to investigate the clinical manifestations and underlying mechanisms in such patients.

METHODSClinical data of six XX male patients were collected. Karyotyping, multiple polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH) were utilized to detect and locate the sex determining region (SRY) gene.

RESULTSPCR and FISH showed that all patients were SRY-positive XX males. All patients have their SRY gene located at the tip of derivative X chromosomes, which have resulted from translocation between short arms of X and Y chromosomes. High resolution karyotyping at 550-750 band level has revealed that the translocation breakpoints were at Xp22.33 and Yp11.2 in three patients. In the remaining patients, the breakpoints were either at Xp22.32 and Yp11.31 or Xp22.31 and Yp11.2. The breakpoints at Xp22.32, Xp22.31 and Yp11.31 were rarely reported. Genotype-phenotype correlation analysis indicated that the clinical manifestations were age-specific. Four adult patients have come to clinical attention due to infertility, with typical features including azoospermia and testis dysgenesis, whereas poorly developed secondary sexual characteristics and short stature were main complaints of adolescence patients, and short stature was the sole symptom in a child patient.

CONCLUSIONCombined karyotyping, PCR and FISH are important for the analysis of XX males. Particularly, high resolution karyotyping is valuable for the refinement of chromosome breakpoints and detailed analysis of genotype-phenotype correlation.

46, XX Disorders of Sex Development ; genetics ; Adolescent ; Adult ; Child, Preschool ; Chromosomes, Human, X ; Chromosomes, Human, Y ; Genetic Association Studies ; methods ; Humans ; Karyotyping ; methods ; Male ; Sex Chromosome Aberrations ; Translocation, Genetic ; Young Adult

OBJECTIVETo investigate the levels of CD4+CD25+CD127(low) regulatory T cells (Tregs) and the expression of Foxp3 gene in peripheral blood of children with aplastic anemia (AA) and to study their roles in the pathogenesis of AA.

METHODSTwenty-one children with chronic AA, 9 with acute AA and 15 healthy children were enrolled. The proportion of CD4+CD25+ CD127low Tregs in CD4+ T cells was evaluated by flow cytometric analysis. The level of Foxp3 mRNA was ascertained by RT-PCR.

RESULTSThe percentage of peripheral blood CD4+T cells and CD4+CD25+ and CD4+CD25+CD127(low) Tregs in CD4+T cells in both the acute and chronic AA groups was significantly lower than that in the normal control group (P<0.05).The acute AA group had more decreased CD4+ T cells and CD4+CD25+ and CD4+CD25+CD127(low) Tregs percentage compared with the CAA group (P<0.05). The expression of Foxp3 mRNA in peripheral blood decreased obviously in the acute AA group (0.47 + or - 0.08%) compared with that in the normal control (0.71 + or - 0.12%) and the CAA groups (0.68 + or - 0.14%) (P<0.05).

CONCLUSIONSThe low expression of Tregs and Foxp3 mRNA in peripheral blood may be involved in pathogenesis of AA.The more decreased Tregs and Foxp3 mRNA expression in acute AA than chronic AA suggests their possible roles in the assessment of the severity of AA.

Adolescent ; Anemia, Aplastic ; etiology ; genetics ; immunology ; Child ; Child, Preschool ; Female ; Forkhead Transcription Factors ; genetics ; Humans ; Male ; RNA, Messenger ; blood ; T-Lymphocytes, Regulatory ; immunology

OBJECTIVETo determine the origin of chromosomal aberrants in a mentally retarded children, and to correlate the karyotype with phenotype.

METHODSRoutine G-banding were performed to analyze the karyotype of the patient and her parents, and array comparative genomic hybridization (array CGH) were used for finely mapping the aberrant regions.

RESULTSThe mother had a normal karyotype. The father had an apparently balanced translocation involving chromosome 7q and 14q, the karyotype was 46, XX, t(7;14) (q34;q32), the karyotype of the child was then ascertained as 46, XX, der(14) t(7;14) (q34;q32.33) pat. Array CGH finely mapped the duplication to 7q34-qter, a 17.09 Mb region, and a very small associated deletion of distal chromosome 14 to 14q32.33-qter, a 2.27 Mb region. The patient presented some frequently seen features in partial trisomy 7q cases such as mental retardation, low birth weight, small nose, cleft palate, low-set ears and short neck.

CONCLUSIONThis result suggested that partial trisomy 7q exert mainly phenotypic effect on the patient. Parental karyotype analysis could help define the aberrant type.

Abnormalities, Multiple ; genetics ; Adult ; Child, Preschool ; Chromosome Banding ; Chromosomes, Human, Pair 14 ; Chromosomes, Human, Pair 7 ; genetics ; Comparative Genomic Hybridization ; Female ; Humans ; Intellectual Disability ; genetics ; Karyotyping ; Male ; Translocation, Genetic ; Trisomy ; genetics

OBJECTIVETo explore the correlation between androgen-related CYP17 gene polymorphisms and female post adolescent acne in Han population in Hunan Province.

METHODSThe female patients with post adolescent acne and high levels of androgen (A group), those without high levels of androgen (B group) and healthy subjects (C group) were enrolled. The CYP17 gene polymorphism was investigated by PCR using DNA samples from peripheral blood lymphocytes. The T-->C transition in the risk allele (A2) produced a new recognition site for the restriction endonuclease MspA1 I. Three genotypes of androgen-related CYP17 gene (A1A1, A1A2, and A2A2) were determined and confirmed by sequencing.

RESULTSThe frequency of the A1A2 gene was similar in the cases and controls (P>0.05). The frequency of A2A2 gene was not significantly different between groups A and C (P>0.05). The frequency of A2A2 gene was significantly different between groups A and B and between groups B and C (P<0.05).

CONCLUSIONThe presence of base substitution in androgen-related CYP17 gene at -34 bp (T-->C) increases the risk of post adolescent acne in female subjects with increased androgen levels.

Acne Vulgaris ; genetics ; Adult ; Androgens ; blood ; Asian Continental Ancestry Group ; genetics ; Case-Control Studies ; Female ; Genotype ; Humans ; Polymorphism, Genetic ; Steroid 17-alpha-Hydroxylase ; genetics