Background: To test the hypothesis that Galphas gene mutation may suppress the expression of TRH-R gene, we investigated whether hTRH-R gene expression is lower in human GH-secreting pituitary adenomas with Galphas mutation than in tumors without the mutation. Method: TRH-induced paradoxical response of GH was observed in 8 acromegalic patients. The mutation of gene was identified by direct sequencing of the genomic DNA prepared from GH-secreting pituitary adenomas. The expression of hTRHT mRNA was quantitated by RT-PCR. Results: The transcript of hTRH-R gene was detected in 6 of 8(75%) tumors. Three of these(50%) showed the paradoxical GH response to TRH and the other three patients did not show the response. The relative expression of hTRH-R mRNA in the tumors from patients with the paradoxical response of GH to TRH did not differ from that in the tumors from patients without the paradoxical response. Direct PCR sequencing of Galphas disclosed a mutant allele and a normal allele only at codon 201 in 4 of 8 tumors. The paradoxical response to TRH was observed in 2 of 4 patients without the mutation, and 2 of 4 patients with the mutation. The hTRH-R gene expression of pituitary adenomas did not differ between the tumors without the mutation and those with mutation. Conclusion: This study suggests that the expression of TRH-R gene is not likely to be a main determinant for the paradoxical response of GH to TRH, and that Galphas mutation does not seem to suppress the gene expression of TRH-R in GH secreting adenoma.
Acromegaly ; Adenoma* ; Alleles ; Codon ; DNA ; Gene Expression ; Growth Hormone-Secreting Pituitary Adenoma ; GTP-Binding Proteins ; Humans ; Pituitary Neoplasms ; Polymerase Chain Reaction ; Receptors, Thyrotropin-Releasing Hormone* ; RNA, Messenger

PURPOSE: The purpose of this study was to evaluate the relationship between osteoporosis and skin thicknessas shown by CT scanning. MATERIALS AND METHODS: Eighty- six women with osteoporosis (mean age, 52) and 51 normalcontrols (mean age, 50) participated in the study. For a quantitative CT examinations, a CT scanner(Somatom Plus,Siemens) was used. Osteoporosis was defined as present when spinal bone mineral density was more than 2.5 standarddeviations below young normal density, as determined by quantitative CT. Patients with endocrinologic, malignantor collagen disease and undergoing antimetabolite or steroid therapy were excluded. The thickness of back skin wasretrospectively measured at the third lumbar vertebra level, as seen on CT films, using a conventional magnifier.For statistical analysis, Students' t test and Spearman's rank correlation were used. RESULTS: On the basis of CTscans, the mean thickness of back skin in the osteoporotic group(0.50+/-0.20 mm) was significantly less than innormal control subjects(0.80+/-0.23 mm) (p<0.001). Significant correlation was observed between skin thickness andbone mineral density(r=0.523, p<0.0001). Sensitivity, specificity, accuracy, and positive and negative predictivevalues were measured as 76, 78, 76, 88, 62% with a cut-off value of 0.6 and 84, 61, 77, 81, 66% with a cut-offvalue of 0.7, respectively. CONCLUSION: The present study demonstrated that the thickness of back skin, asmeasured by CT scanning, is predictive of osteoporosis.
Bone Density ; Collagen Diseases ; Female ; Humans ; Osteoporosis* ; Sensitivity and Specificity ; Skin* ; Spine ; Tomography, X-Ray Computed*

No abstract available.
Gene Expression* ; Humans* ; Insulin-Like Growth Factor I* ; Thyroid Gland*

OBJECTIVE: Trisomy 21 (Down syndrome) is the most common chromosomal anomaly which occurs 1 out of 700-1000 birth. Current techniques such as amniocentesis, chorionic villi sampling (CVS), require lengthy laboratory culture procedures and high costs. This study was undertaken to establish a rapid prenatal diagnosis of trisomy 21 using real-time quantitative polymerase chain reaction of fetal DNA from amniotic fluid. METHODS: Real-time quantitative PCR was performed with DNA template obtained from 14 normal serum, 10 normal amniotic fluid samples, 14 Down syndrome serum, and 7 Down syndrome amniotic fluid samples. Primers for D21S167 and S100B of chromosome 21 were used. Primers that direct amplification of 165-bp fragment of the IGFI (Insulin-like growth factor-1) gene on chromosome 12 are included to generate an internal standard for quantitation. RESULTS: The relative levels of D21S167 and S100B were 2.6 and 2.4 times higher in the serum of Down syndrome patients compared to the control group. The difference between these two groups was statistically significant (P-value: 0.0012 and 0.0016). The relative levels of D21S167 and S100B were 2.1 and 2.7 times higher in the amniotic fluid of Down syndrome fetuses compared to control group. The difference between these two groups was statistically significant (P-value 0.0379 respectively). CONCLUSION: Prenatal diagnosis of trisomy 21 by real-time quantitative PCR-associated STR (small tandem repeats) analysis of D21S167 and S100B is useful, accurate and rapid diagnostic method and also can be employed in diagnosis of trisomy 13, 18. Furthermore, it may also be useful for prenatal diagnosis with fetal DNA from maternal blood and for preimplantation genetic diagnosis.
Amniocentesis ; Amniotic Fluid ; Chorionic Villi Sampling ; Chromosomes, Human, Pair 12 ; Chromosomes, Human, Pair 21 ; Diagnosis ; DNA ; Down Syndrome* ; Female ; Fetus ; Humans ; Parturition ; Polymerase Chain Reaction* ; Pregnancy ; Preimplantation Diagnosis ; Prenatal Diagnosis* ; Trisomy*