The CBLB Gene and Graves' Disease in Children Chen, Chia-Ching; Huang, Chi-Yu; Huang, Fu-Yuan ...
Journal of Pediatric Endocrinology and Metabolism,
11/2005, Volume:
18, Issue:
11
Journal Article
Peer reviewed
The CBLB gene functions as a negative regulator of autoimmunity. Impairment of the Cbl-b signaling pathway may contribute to human autoimmune disease. dbSNP rs2305035 is a C/T polymorphism located in ...exon 10 of the CBLB gene. We report an association study of this polymorphism in children with Graves' disease. The patients were 158 unrelated children (125 girls) with Graves' disease, aged 9.8 +/- 3.3 years. The controls consisted of 237 adults without a history of autoimmune disease. The C allele and phenotype frequencies of patients and controls were 247 (78.2%) vs 356 (75.1%) (OR = 1.19, p >0.05) and 151 (95.6%) vs 221 (93.2%) (OR = 1.56, p >0.05), respectively. The allelic polymorphism in patients and controls with and without DRB1*09012 were also not significantly different. This study demonstrates that the C/T polymorphism in exon 10 of the CBLB gene is not associated with Graves' disease in children.
We report here the study of the human CYP11A1 promoter
in driving tissue-specific, developmentally and hormonally regulated
reporter gene expression. A 4.4-kb fragment containing all known
regulatory ...elements is more efficient than a short basal promoter fused
to an upstream adrenal enhancer in driving reporter LacZ
gene expression both in cell culture and in transgenic mice. The
LacZ gene controlled by the 4.4- and 2.3-kb promoters
was expressed in the adrenal cortex, testicular Leydig cells, ovarian
corpora lutea, and granulosa cells. Transgene expression in the
adrenals was stimulated by ACTH, indicating the presence of
ACTH-responsive sequence. β-Galactosidase activity was first detected
in the adrenal primordia at 11.5 days postcoitum. Its expression
continued throughout all stages of adrenal development in a pattern
similar to that of the endogenous CYP11A1, which was
expressed in all zones of the adrenal cortex, but was strongest in the
X zone. The X zone grew before puberty but regressed afterward, as did
the levels of CYP11A1 and LacZ gene
expression in the X zone. Our study of the CYP11A1
promoter in transgenic mice led to characterization of the
adrenocortical zones.
PURPOSEUreter avulsion, a challenging urologic complication, has been rarely found in lumbar spine surgeries. Once ignored, the leaked urine usually leads to significant morbidity and also makes ...further repair more difficult. We present an unusual ureter injury causing a long defect which occurred in posterior spine fusion; immediate repair was performed with minimal invasion. CASE PRESENTATIONA 61-year-old female was receiving microscopic spine fusion (transforaminal lumbar interbody fusion) for her L3-L5 spondylosis. Ureter avulsion with one 3-cm defect occurred unexpectedly. We confirmed urine extravasation promptly, and performed end-to-end ureteroureterostomy with laparoscopy. Retrograde double-J stenting was indwelled. Her postoperative condition was uneventful. CONCLUSIONThis rare case with good outcome highlights the importance of early diagnosis and immediate repair for complete ureter avulsion. We prove that reanastomosis for ureter loss as much as 3 cm is feasible with laparoscopy in regional hospitals where a robot is not available. To deal with large gaps between stumps, adequate kidney mobilization is required before anastomosis.
Seven purine nucleosides containing the 2'-deoxy-2'-fluoro-β-D-arabinofuranosyl moiety were synthesized and tested for their antitumor activity. Direct condensation of ...3-O-acetyl-5-O-benzoyl-2-deoxy-2-fluoro-D-arabinofuranosyl bromide (1) with N6-benzoyladenine in CH2Cl2 followed by saponification of the product afforded the adenine nucleoside (1, 2'-F-ara-A). Deamination of I with NaNO2 in HOAc gave the hypoxanthine analogue (II, 2'-F-ara-H). The 6-thiopurine nucleoside (III, 2'-F-ara-6MP) was prepared by condensation of 1 with 6-chloropurine by the mercury procedure followed by thiourea treatment and saponification of the product. Methylation of III gave the 6-SCH3 analogue (IV). Raney Ni desulfurization of III afforded the unsubstituted purine nucleoside (V, 2'-F-ara-P). Condensation of 1 with 2-acetamido-6-chloropurine by the silyl procedure afforded the protected 2-acetamido-6-chloropurine nucleoside which served as the precursor for both the guanine and 6-thioguanine nucleosides (VI, 2'-F-ara-G and VII, 2'-F-ara-TG, respectively). Thus, alkaline hydrolysis of the precursor gave VI. Thiourea treatment prior to alkaline hydrolysis gave VII. The new nucleoside, 2'-F-ara-G (VI) is found to be selectively toxic to human T-cell leukemia CCRF-CEM.
AIM:To verify gene expression profiles for colorectal cancer using 12 internet public microarray datasets.METHODS:Logistic regression analysis was performed,and odds ratios for each gene were ...determined between colorectal cancer(CRC)and controls.Twelvepublic microarray datasets of GSE 4107,4183,8671,9348,10961,13067,13294,13471,14333,15960,17538,and 18105,which included 519 cases of adenocarcinoma and 88 normal mucosa controls,were pooled and used to verify 17 selective genes from 3 published studies and estimate the external generality.RESULTS:We validated the 17 CRC-associated genes from studies by Chang et al(Model 1:5 genes),Marshall et al(Model 2:7 genes)and Han et al(Model 3:5genes)and performed the multivariate logistic regression analysis using the pooled 12 public microarray datasets as well as the external validation.The goodnessof-fit test of Hosmer-Lemeshow(H-L)showed statistical significance(P=0.044)for Model 2 of Marshall et al in which observed event rates did not match expected event rates in subgroups of the model population.Expected and observed event rates in subgroups were similar,which are called well calibrated,in Models 1,3and 4 with non-significant P values of 0.460,0.194 and1.000 for H-L tests,respectively.A 7-gene model of CPEB4,EIF2S3,MGC20553,MS4A1,ANXA3,TNFAIP6and IL2RB was pairwise selected,which showed the best results in logistic regression analysis(H-L P=1.000,R2=0.951,areas under the curve=0.999,accuracy=0.968,specificity=0.966 and sensitivity=0.994).CONCLUSION:A novel gene expression profile was associated with CRC and can potentially be applied to blood-based detection assays.
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