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Noriaki Sakuragi

Publications and source records attributed to Noriaki Sakuragi.

At least 19 recordsLinked to original sources
PubMed2006

A validation study of a scoring system to estimate the risk of lymph node metastasis for patients with endometrial cancer for tailoring the indication of lymphadenectomy.

OBJECTIVE: The aim of this study was to verify whether a preoperative scoring system to estimate the risk of lymph node metastasis (LNM) in endometrial carcinoma is clinically useful for tailoring the indication of lymphadenectomy. STUDY DESIGN: LNM score was set up using volume index, serum CA125 level, and tumor grade/histology, which were found to be independent risk factors for LNM in a pilot study. Based on the LNM score before a validation study was started, the estimated rates of LNM (para-aortic LNM) were 3.4% (0.0%) in a low risk group, 7.7% (5.8%) in an intermediate group, 44.4% (30.6%) in a high risk group and 70.0% (50.0%) in an extremely high risk group. The validation study was carried out using data for 211 patients with endometrial carcinoma for whom three risk factors were preoperatively confirmed. Logistic regression analysis was used to determine whether these factors remain valid. The actual rate of LNM was investigated according to the LNM score. RESULTS: Volume index, serum CA125 level, and tumor grade/histology were found to be independent risk factors for LNM in the cohort of this study. The actual rates of LNM (para-aortic LNM) were 3.2% (1.0%) in the low risk group, 15.3% (11.9%) in the intermediate group, 30.2% (23.8%) in the high risk group and 78.6% (57.1%) in the extremely high risk group. CONCLUSION: The actual rate of LNM for each score was fairly consistent with the estimated rate of LNM. Para-aortic lymphadenectomy may not be necessary in cases of a low risk group. A large prospective multicenter clinical trial needs to be conducted to establish the clinical usefulness of our preoperative scoring system.

Adult↗
PubMed2006

Association between preterm birth and vaginal colonization by mycoplasmas in early pregnancy.

To examine the association between colonization by two newly classified species of genital ureaplasmas (Ureaplasma parvum and U. urealyticum) in early pregnancy and subsequent late abortion or preterm birth at <34 weeks of gestation, four species of genital mycoplasmas--Mycoplasma genitalium, M. hominis, U. parvum, and U. urealyticum--as well as Chlamydia trachomatis and Neisseria gonorrhoeae were examined by PCR-based methods in a prospective cohort study of 877 women with singleton pregnancies at <11 weeks of gestation. Antibiotics were used only in cases in which C. trachomatis and/or N. gonorrhoeae was detected. Multivariate logistic-regression analysis was used to assess independent risk factors after taking maternal low body weight and past history of preterm birth into account. M. genitalium, M. hominis, U. parvum, U. urealyticum, C. trachomatis, and N. gonorrhoeae were detected in 0.8%, 11.2%, 52.0%, 8.7%, 3.2%, and 0.1% of these 877 women, respectively. Twenty-one (2.4%) women experienced late abortion or preterm birth at <34 weeks of gestation. Three factors-detection of U. parvum in the vagina (odds ratio [OR], 3.0; 95% confidence interval [CI], 1.1 to 8.5); use of antibiotics, such as penicillin and cefatrizine, for incidental inflammatory complications before 22 weeks of gestation (OR, 4.2; 95% CI, 1.6 to 10.0); and past history of preterm birth (OR, 10.4; 95% CI, 2.7 to 40.5)-were independently associated with late abortion and preterm birth. In conclusion, vaginal colonization with U. parvum, but not U. urealyticum, is associated with late abortion or early preterm birth.

Adult↗
PubMed2006

Coagulation-fibrinolysis is more enhanced in twin than in singleton pregnancies.

AIMS: To examine whether coagulation-fibrinolysis in late pregnancy in women with twin pregnancies is more pronounced than in women with singleton pregnancies. PATIENTS AND METHODS: The plasma levels of D-dimer, fibrinogen/fibrin degradation products (FDP), and fibrinogen, the platelet count, and the antithrombin activity were assessed from 3 weeks before delivery until postpartum day 7 in 48 women (24 singleton and 24 twin pregnancies) without preeclampsia who underwent cesarean sections. RESULTS: Women with singleton or twin pregnancies gave birth at 37.3+/-1.2 weeks or 35.2+/-1.4 weeks, respectively. Compared with singleton mothers, prenatal D-dimer and FDP levels were consistently and significantly higher among women with twin pregnancies. A significantly larger proportion of twin mothers exhibited prenatal levels of D-dimer >5.0 microg/mL, FDP >10.0 microg/mL, fibrinogen <420 mg/mL and antithrombin activity <70%. In addition, prenatal antithrombin activity in plasma was significantly lower. CONCLUSIONS: Coagulation-fibrinolysis is more enhanced in women with twin gestation than in women with singleton gestation.

Adult↗
PubMed2006

CREM confers cAMP responsiveness in human steroidogenic acute regulatory protein expression in NCI-H295R cells rather than SF-1/Ad4BP.

Steroidogenic acute regulatory (StAR) protein plays a critical role in steroid hormone synthesis. Tropic hormones induce human StAR gene expression by a cAMP-dependent pathway. Steroidogenic factor-1/adrenal-4-binding protein (SF-1/Ad4BP) plays an important role in the expression of human StAR gene. We investigated the mechanism of cAMP responsiveness in human StAR gene expression in NCI-H295R cells. The StAR promoter activity and protein levels in cells subjected to various treatments were examined. Anti-SF-1/Ad4BP IgG transfection treatment resulted in decreases in the basal StAR promoter activity and StAR protein levels, but did not affect cAMP-stimulated promoter activity and protein levels. The basal and cAMP-stimulated StAR promoter activity levels were reduced in SF-1/Ad4BP mutant (G35E)-transfected cells, but the cAMP induction of StAR promoter activity in response to 1 mM 8-Br-cAMP was not inhibited when G35E SF-1/Ad4BP mutant expression vectors were co-transfected with cAMP-response element-binding (CREB) expression vectors. Although the basal StAR mRNA expression and protein levels were decreased by SF-1/Ad4BP-siRNA treatment, the cAMP-stimulated StAR mRNA expression and protein levels did not change. The basal StAR promoter activity level was not decreased by cAMP-response element modulator (CREM)-siRNA treatment, but the cAMP-stimulated StAR promoter activity level, the magnitude of cAMP induction of StAR promoter, and the cAMP-stimulated StAR protein level were decreased. The cAMP induction of StAR promoter activity in cells was inhibited when S117ACREM mutant expressionvectors were transfected. We conclude that inhibition of the function of SF-1/Ad4BP does not reduce the cAMP induction of StAR promoter activity and protein level. CREM is needed to confer cAMP responsiveness in human StAR protein expression.

8-Bromo Cyclic Adenosine Monophosphate↗
PubMed2006

Bioactivity of human chorionic gonadotropin produced in frozen-thawed embryo transfer cycles with exogenous hormone replacement.

Human chorionic gonadotropin (HCG) is the glycoprotein hormone in pregnancy. It is known that hCG molecule has a variety of isoforms showing different potency in bioactivity. Taking advantage of rat Leydig cell assay to evaluate hCG bioactivity, we first tried to predict the prognosis of pregnancy in hormone replacement (HR)-cryopreserved embryo transfer cycles. There was no significant difference in serum estradiol (E2) level, immuno-hCG, or bioactive to immunoreactive hCG ratio (b/i) between normal pregnancies and miscarriages at 4 weeks of gestation. Linear regression did not show a significant correlation in E2 or b/i between normal pregnancies and miscarriages. The same analysis was performed on serum samples collected from spontaneously pregnant patients. In normal pregnancies b/i was significantly lower than that in miscarriages while serum E2 was significantly higher. The linear regression analysis was also performed to clarify the correlation between E2 and b/i, and no significant correlation was observed. To confirm the effect of E2 on hCG production, we treated trophoblastic cells with E2. E2 increased the immunoreactivity of hCG to a non-physiologically high concentration; however, it did not change its bioactivity, suggesting that E2 did not change hCG bioactivity by affecting trophoblasts directly. In this study, we presumed it possible to speculate the prognosis of the pregnancy in spontaneous cycles from b/i of hCG, but not in HR cycles. It is suggested that process of hCG secretion could undergo different endocrine regulations between the artificial sex steroid replacement cycles and spontaneous cycles with corpus luteum function.

Animals↗
PubMed2005

WT1 and WT1-AS genes are inactivated by promoter methylation in ovarian clear cell adenocarcinoma.

BACKGROUND: Ovarian clear cell adenocarcinoma is associated with one of the poorest prognoses among human epithelial ovarian cancers. The authors hypothesized that Wilms tumor suppressor 1 gene (WT1) sense and antisense (WT1-AS) expression and their promoter methylation status could characterize ovarian clear cell adenocarcinoma from ovarian serous adenocarcinoma. METHODS: To test this hypothesis, ovarian cancer cell lines and 42 cancer tissues (17 clear cell and 25 serous adenocarcinoma) were analyzed for expression and methylation of WT1 and WT1-AS genes. RESULTS: These experiments demonstrated that all serous adenocarcinoma tissues expressed both WT1 and WT1-AS genes, although expression of these genes was lacking in clear cell adenocarcinoma. The WT1 and WT1-AS promoter were significantly methylated in clear cell adenocarcinoma (88.2% and 88.2%, respectively) compared with serous adenocarcinoma (24.0% and 20.0%, respectively). Significant correlation between methylation and mRNA expression status was observed for each gene. Also in agreement with these data, WT1 and WT1-AS negative ovarian cancer cell lines reexpressed these genes after treatment with the demethylating agent, 5-aza-2'-deoxycytidine. CONCLUSIONS: The current study shows that CpG hypermethylation is an important mechanism of WT1 and WT1-AS gene inactivation in ovarian clear cell adenocarcinoma. This is the first report that has demonstrated differential expression and methylation of WT1-AS in ovarian clear cell and serous adenocarcinomas. This study presents new molecular characterizations between these two types of adenocarcinoma and may provide insight as to why clear cell adenocarcinoma has a poorer prognosis than serous adenocarcinoma of the ovary.

Adenocarcinoma, Clear Cell↗
PubMed2005

Functional analysis of p53 gene and the prognostic impact of dominant-negative p53 mutation in endometrial cancer.

In addition to the loss of function, mutant p53 can possess a dominant-negative effect on wild-type p53 and may also exert gain-of-function activity. It is not clear whether the functional status of p53 mutation contributes to differences in outcome in endometrial cancer. We collected a total of 92 RNA samples of high quality from endometrial cancer tissues, and the samples were subjected to yeast functional assay and sequencing for p53 mutations. The detected mutant p53 genes were further investigated for their dominant-negative activity using a yeast-based transdominance assay. p53 mutation was found in 24 out of 92 (26.1%) tumors, of which 10 exhibited no dominant-negative activity (recessive mutation) and 14 showed dominant-negative activity. Dominant-negative p53 mutation was related to advanced stages (p = 0.01), nonendometrioid type tumors (p = 0.01) and grade 3 tumors (p = 0.04). The patients with dominant-negative mutation had significantly shorter survival than patients with no mutation (p < 0.0001) and those with a recessive mutation (p = 0.01) in the p53 gene. No difference in survival was found between the patients with tumors harboring a recessive p53 mutation and those with tumors harboring a wild-type p53. Multivariate analysis revealed that dominant-negative p53 mutation (p = 0.019), FIGO stage (p = 0.0037) and histologic subtype (p = 0.014) were independently related to patient survival. Dominant-negative p53 mutation was the most important prognostic factor for stage III/IV endometrial cancer (p = 0.0023). In conclusion, dominant-negative p53 mutation is often found in advanced stages and aggressive histologic subtypes of endometrial cancer and it is a strong predictor of survival of patients with advanced endometrial cancer. To elucidate further the role of p53 mutation in endometrial cancer, it is necessary to investigate gain-of-function activity involving dominant-negative p53 mutant proteins.

Biological Assay↗
PubMed2005

GGC and StuI polymorphism on the androgen receptor gene in endometrial cancer patients.

Androgens have an anti-proliferative effect on endometrial cells. Human androgen receptor (AR) gene contains two polymorphic short tandem repeats of GGC and CAG, and a single-nucleotide polymorphism on exon 1 that is recognized by the restriction enzyme, StuI. Prior studies have shown that the lengths of the CAG repeat are inversely and linearly related to AR activity and associated with endometrial cancer. However, little is known about the GGC repeat and the StuI polymorphism of the AR gene. Thus, we investigated whether these AR polymorphisms are risk factors for endometrial cancer. To test this hypothesis, the genetic distributions of these polymorphisms were investigated in blood samples from endometrial cancer patients and healthy controls. The allelic and genotyping profiles were analyzed by polymerase chain reaction (PCR), PCR-restriction fragment length polymorphism (PCR-RFLP), and direct DNA sequencing, and analyzed statistically. The GGC repeat was significantly longer in endometrial cancer patients as compared to normal healthy controls. In general, an increased risk of endometrial cancer was found with increasing GGC repeat. The relative risk for the 17 GGC repeat was greater than 4, as compared to controls. However, the StuI polymorphism was not significantly different between patients and controls. The findings suggest that increased numbers of GGC repeat on the AR gene may be a risk factor for endometrial cancer.

Adult↗
PubMed2005

Lymph-vascular space invasion and number of positive para-aortic node groups predict survival in node-positive patients with endometrial cancer.

OBJECTIVE: The aim of this study was to determine pathologic variables associated with disease-specific survival of node-positive patients with endometrial carcinoma treated with combination of surgery including pelvic and para-aortic lymphadenectomy and adjuvant chemotherapy. METHODS: Survival of 55 node-positive endometrial carcinoma patients prospectively treated with surgery and adjuvant chemotherapy between 1982 and 2002 at Hokkaido University Hospital was compared to various histopathologic variables. All patients underwent primary surgical treatment including pelvic and para-aortic lymphadenectomy followed by adjuvant chemotherapy consisting of intravenous cisplatin, doxorubicin, and cyclophosphamide. Survival analyses were performed by the Kaplan-Meier curves and the log-rank test. Independent prognostic factors were determined by multivariate Cox regression analysis using a forward stepwise selection. RESULTS: Among 303 consecutive endometrial cancer patients treated during the period of this study, 55 patients (18.2%), including 44 without peritoneal metastasis (FIGO stage IIIc) and 11 with peritoneal metastasis (FIGO stage IV), were found to have retroperitoneal lymph node metastasis. Multivariate Cox regression analysis revealed that peritoneal metastasis and lymph-vascular space invasion (LVSI) were independently related to poor survival in node-positive endometrial carcinoma. The estimated 5-year survival rate of stage IIIc patients with or without moderate/prominent LVSI was 50.9% and 93.3%, respectively with statistically significant difference (P=0.0024). The estimated 5-year survival rate of stage IV patients was 20.0%. Prognosis of stage IIIc patients could be stratified into three groups by the number of positive para-aortic node (PAN) with an estimated 5-year survival rate of 86.4% for no positive PAN (n = 23), 60.4% for one positive PAN (n = 13), and 20.0% for > or = 2 positive PAN (n = 8). The difference of survival rate between no or one positive PAN and > or = 2 positive PAN was statistically significant (P = 0.0007 for no positive PAN vs > or = 2 positive PAN, P = 0.0319 for one positive PAN vs > or = 2 positive PAN). Multivariate analysis including number of positive PAN groups showed that LVSI, number of positive PAN groups were independent prognostic factors for survival. Survival of patients with stage IIIc disease could be stratified into three groups by combination of LVSI and number of positive PAN groups with an estimated 5-year survival rate of 93.3% for no or one positive PAN group with nil or minimal LVSI, 62.6% for no or one positive PAN group with intermediate or prominent LVSI, and 20.0% for > or = 2 positive PAN groups irrespective of LVSI (P = 0.0002 for no or one positive PAN group with nil or minimal LVSI vs > or = 2 positive PAN groups, P = 0.0223 for no or one positive PAN group with nil or minimal LVSI vs no or one positive PAN group with intermediate or prominent LVSI, P = 0.0388 for no or one positive PAN group with intermediate or prominent LVSI vs > or = 2 positive PAN groups). CONCLUSIONS: LVSI and number of positive PAN groups were independent prognostic factors for stage IIIc endometrial cancer patients. Postoperative therapy and follow-up modality need to be individualized according to LVSI and the number of positive PAN for stage IIIc patients. New molecular markers to predict the prognosis of endometrial cancer patients preoperatively should be found for individualization of treatment. New chemotherapy regimen including taxane needs to be considered as an adjuvant therapy for patients with node-positive endometrial cancer.

Adult↗
PubMed2005

A case of pure-type ovarian squamous cell carcinoma for which combination chemotherapy consisting of paclitaxel and carboplatin was not effective.

BACKGROUND: There has been no report on the effectiveness of combination chemotherapy consisting of paclitaxel and carboplatin for pure-type ovarian squamous cell carcinoma (POSCC). CASE: A 56-year-old Japanese woman diagnosed as having pT2c pN1 M0 pure-type ovarian squamous cell carcinoma was treated with combination chemotherapy consisting of paclitaxel and carboplatin every 3 weeks. Four months after the initial chemotherapy, multiple lung tumors appeared and a new tumor in the internal iliac area appeared. She died of disease 12 months after the first treatment. CONCLUSION: Adjuvant chemotherapy consisting of paclitaxel and carboplatin for ovarian squamous cell carcinoma were not effective in this case.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed2005

Changes in antithrombin activity and platelet counts in the late stage of twin and triplet pregnancies.

It is possible that women with triplet pregnancies are more likely to exhibit pregnancy-induced antithrombin deficiency, gestational thrombocytopenia, and perinatal elevation in serum aspartate aminotransferase (AST) than women with twin pregnancies. We retrospectively reviewed changes in antithrombin activity, platelet count, and blood chemistry in 23 twin and seven triplet pregnancies in which the mothers received antenatal care and gave birth in our hospital during 1999 and 2001. Both antithrombin activity and platelet counts gradually decreased until delivery, then promptly increased after delivery in both twin and triplet pregnancies. A significantly larger number of women developed gestational thrombocytopenia of < 100 x 10 (9)/L (43% [three of seven] versus 4.3% [one of 23]; p < 0.01) and pregnancy-induced antithrombin deficiency of < 60% of normal activity (57% [four of seven] versus 17% [four of 23]; p < 0.05) in triplet than in twin pregnancies. Eight women with pregnancy-induced antithrombin deficiency, including three women with gestational thrombocytopenia, were significantly more likely to develop perinatal elevations of AST, lactate dehydrogenase, serum creatinine, fibrin/fibrinogen degradation products, and D-dimer than were those without pregnancy-induced antithrombin deficiency. These findings suggest that women with triplet pregnancies are at an increased risk of the HELLP syndrome and acute fatty liver of pregnancy compared with women with twin pregnancies.

Adult↗
PubMed2005

A study of oligosaccharide variants of alpha-fetoproteins produced by normal fetuses and fetuses with trisomy 21.

BACKGROUND: The mechanisms of the increase in the percentage of alpha-fetoproteins (AFPs) that strongly binds to Lens culinaris agglutinin (AFP-L3) in pregnancies with a trisomy 21 fetus have not been analyzed. To investigate the oligosaccharide variants of AFP produced by normal fetuses and fetuses with trisomy 21, the lectin reactivity of AFP was analyzed. METHODS: Fetal liver tissue, amniotic fluid, and maternal serum were obtained from five normal pregnancies and five pregnancies with a trisomy 21 fetus. The percentages of AFP reactive to lectins were determined by lectin-affinity electrophoresis coupled with antibody-affinity blotting. RESULTS: The percentages of AFP-L3 in the fetal liver and the maternal serum were 23.9 and 27.0%, respectively, in normal pregnancies, and 28.7 and 38.5%, respectively, in pregnancies with a trisomy 21 fetus. There was no statistically significant difference between the percentage in the fetal liver and the percentage in the maternal serum in normal pregnancies; however, a significant difference (P < 0.01) was found in pregnancies with a trisomy 21 fetus. In regard to the percentage of AFP-L3 in the fetal liver, there was no significant difference; however, a significant difference (P < 0.05) was found in the maternal serum between normal pregnancies and pregnancies with a trisomy 21 fetus. CONCLUSIONS: The transference of the AFP-L3 fraction might be relatively high in the placentas of women carrying a trisomy 21 fetus, and this could be the one of the reasons for the increase in the percentage of AFP-L3 in the maternal serum in pregnancies with a trisomy 21 fetus.

Adolescent↗
PubMed2004

Distribution of a single nucleotide polymorphism on codon 211 of the androgen receptor gene and its correlation with human renal cell cancer in Japanese patients.

The human androgen receptor (AR) gene contains a single nucleotide polymorphism (SNP) on codon 211 and two polymorphic short tandem repeats of CAG and GGC in the N-terminal domain that may influence transcription efficiency of AR gene. We previously reported that the lengths of the CAG and GGC repeats are inversely and linearly related to AR activity and associated with several cancers. However, little is known about this SNP on codon 211 of the AR gene in human renal cell cancer. The cause of renal cell cancer is not well understood although several factors such as chemical carcinogens and hormones have been implicated. AR has been identified in human and animal renal cell cancer. We hypothesize that the SNP on codon 211 is associated with human renal cell cancer. To test this hypothesis, the genetic distribution of the SNP on codon 211 of AR gene was investigated in renal cell cancer patients (211 cases) and healthy controls (200 cases). The allelic and genotypic distributions were determined by PCR-RFLP and direct DNA sequencing techniques. The chi2 test for these data revealed that the distribution of this SNP was not different between renal cell cancer patients as compared to normal healthy controls. The findings suggest that the SNP on codon 211 in the AR gene may not have an important role in the carcinogenesis of human renal cell cancers.

Adult↗
PubMed2004

Expression and methylation status of 14-3-3 sigma gene can characterize the different histological features of ovarian cancer.

We hypothesize that 14-3-3 sigma gene expression and its regulation by methylation can characterize histological types of primary human epithelial ovarian cancer. To test this hypothesis, ovarian cancer cell lines and 54 ovarian cancer tissue samples were analyzed for expression and methylation of 14-3-3 sigma gene using methylation specific PCR. The results of our experiments demonstrate that 14-3-3 sigma gene was methylated and inactivated in ES-2 ovarian cell line, which was derived from clear cell adenocarcinoma. Treatment of this cell line with demethylating agent 5-aza-2'-deoxycytidine restored the expression of 14-3-3 sigma gene. In human ovarian cancer tissues, the expression of 14-3-3 sigma protein was inactivated in most of the ovarian clear cell carcinoma tissues. Interestingly, 14-3-3 sigma protein expression was positive in significantly higher percentages of serous (89.5%), endometrioid (90%), and mucinous (81.8%) ovarian adenocarcinoma tissues. The ovarian clear cell carcinoma samples with inactivated 14-3-3 sigma protein were highly methylated, suggesting that inactivation of 14-3-3 sigma gene is through DNA methylation. Using direct DNA sequencing, 14-3-3 sigma gene methylation on all the 17 CpG sites was significantly higher in ovarian clear cell carcinoma as compared to other histological types of ovarian cancer (serous, endometrioid, and mucinous). This is the first report suggesting that 14-3-3 sigma gene expression and methylation status can characterize histological features of different types of ovarian cancer.

14-3-3 Proteins↗
PubMed2004

Polymorphisms of the CYP1B1 gene as risk factors for human renal cell cancer.

PURPOSE: CYP1B1 activates various environmental carcinogens in human tissues, including renal tissues. We hypothesize that certain polymorphisms of the CYP1B1 gene are risk factors for renal cell cancer. The rationale for this hypothesis is that chemical procarcinogenic compounds require metabolic activation by oxidative enzymes such as CYP1B1 to be transformed into potentially carcinogenic forms. To test this hypothesis, we investigated the genotypic distributions of six different loci on the CYP1B1 gene and their association with renal cell cancer. EXPERIMENTAL DESIGN: DNA from 211 cases of human renal cell cancer and 200 healthy controls was analyzed by sequence-specific PCR and direct DNA sequencing to determine the genotypic frequencies of six different polymorphic loci on the CYP1B1 gene. RESULTS: The results of this study demonstrate that the frequencies of genotype 119T/T and genotype 432G/G were significantly higher in renal cell cancer patients compared with healthy normal controls. The relative risks were calculated as 3.01 and 2.17 for genotypes 119T/T and 432G/G, respectively, in renal cell carcinoma patients. These genotypic distributions were also significantly different between male and female patients. The relative risks of genotype 119T/T were calculated as 3.95 in males and 1.92 in females, and the relative risks of genotype 432G/G were calculated as 2.81 in males and 1.35 in females. CONCLUSIONS: The present study demonstrates for the first time that the polymorphisms at codons 119 and 432 may be risk factors for renal cancer, especially in the male population.

Aryl Hydrocarbon Hydroxylases↗
PubMed2004

Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal period.

Hypochondroplasia is an autosomal dominant skeletal dysplasia expressing postnatal onset of short stature with mild rhizomelic shortening of the limbs. This manifestation leads to restricted prenatal diagnosis of the disorder. We report here on a sporadic case of a hypochondroplastic baby, whose prenatal sonographic measurements were serially recorded from 19 weeks of gestation. Mild shortening of the limbs became manifest after 26 weeks of gestation. Biparietal diameter was within the normal range throughout gestation. Both parents were of average stature. A tentative diagnosis of a nonlethal short-limb skeletal dysplasia was made. At birth, the clinical manifestations of the neonate were not characteristic, but the radiographic features raised the possibility of hypochondroplasia. Molecular analyses revealed a C to G mutation at nucleotide 1659 of the fibroblast growth factor receptor 3 (FGFR3) gene, a common mutation in hypochondroplasia.

Adult↗
PubMed2004

High dose three-dimensional conformal boost (3DCB) using an orthogonal diagnostic X-ray set-up for patients with gynecological malignancy: a new application of real-time tumor-tracking system.

The feasibility and accuracy of high dose three-dimensional conformal boost (3DCB) using three internal fiducial markers and a two-orthogonal X-ray set-up of the real-time tumor-tracking system on patients with gynecological malignacy were investigated in 10 patients. The standard deviation of the distribution of systematic deviations (Sigma) was reduced from 3.8, 4.6, and 4.9 mm in the manual set-up to 2.3, 2.3 and 2.7 mm in the set-up using the internal markers. The average standard deviation of the distribution of random deviations (sigma) was reduced from 3.7, 5.0, and 4.5 mm in the manual set-up to 3.3, 3.0, and 4.2 mm in the marker set-up. The appropriate PTV margin was estimated to be 10.2, 12.8, and 12.9 mm in the manual set-up and 6.9, 6.7, and 8.3 mm in the gold marker set-up, respectively, using the formula 2Sigma + 0.7sigma. Set-up of the patients with three markers and two fluoroscopy is useful to reduce PTV margin and perform 3DCB.

Adult↗