Delayed Diagnosis of Chromosome 22q11.2 Deletion Syndrome Due to Late-Onset Generalized Epilepsy

No abstract available.

Syndrome of inappropriate antidiuretic hormone secretion following irinotecan-cisplatin administration as a treatment for recurrent ovarian clear cell carcinoma

Syndrome of inappropriate antidiuretic hormone secretion (SIADH) has various causes including central nervous system disorders, pulmonary and endocrine diseases, paraneoplastic syndromes, and use of certain drugs. SIADH induced by chemotherapy with irinotecan-cisplatin is not a common complication. Here, we review a case of SIADH after treatment with irinotecan-cisplatin. A 45-year-old woman received adjuvant chemotherapy (paclitaxel-carboplatin) for ovarian clear cell carcinoma, but the cancer recurred within 9 months of chemotherapy. Subsequently, a second line of combination chemotherapy containing irinotecan-cisplatin was initiated. However, 5 days after chemotherapy administration, her general condition began to deteriorate; her hematological tests revealed hyponatremia. Therefore, it is imperative to consider the possibility of SIADH in patients being treated with irinotecan-cisplatin–based chemotherapy. Proper monitoring of serum sodium levels and assessment of clinical symptoms should be performed in such patients for early diagnosis and prompt management.

Right ventricular metastatic tumor from a primary carcinoma of uterine cervix: A cause of pulmonary embolism

The presence of intracavitary cardiac metastasis from squamous cell carcinoma of the uterine cervix is extremely rare. The diagnosis is made almost exclusively postmortem. Apart from causing intracardiac obstruction, it can present as pulmonary emboli and the prognosis is extremely poor. It is important to suspect this diagnosis in patient with recurrent pulmonary emboli. Due to the rarity of this condition it is very difficult to standardize care for these patients. However, it is possible that aggressive therapy may lengthen patients' survival and quality of life. We present a case of isolated intracavitary cardiac metastasis arising from a squamous cell carcinoma of the cervix, 44-year-old woman, diagnosed as stage complaint of fatigue and dyspnea on mild exertion. The echocardiogram showed a mass in the right ventricle and suspicious pulmonary embolism. We took an aggressive therapeutic approach. The pathological examination of the resected tissue revealed metastatic squamous cell carcinoma.

Development and validation of novel digitalized cervicography system

OBJECTIVE: Digital cervicography systems would be expected to reduce the costs of film cervicography, and provide the opportunity for "telemedicine-based" screening. We aimed to develop web-based digital cervicography system, and validate it compared with conventional film cervicography. METHODS: A hundred cases from five centers were prospectively included, and cervical images (analogue, digitalized by scanning analogue, and digital) were taken separately using both analogue (Cerviscope) and digital camera (Dr. Cervicam) in each patient. Nine specialists evaluated the three kinds of images of each case with time interval between evaluations of each image. To validate novel digitalized system, we analyzed intra-observer variance among evaluation results of three kinds of images. RESULTS: Sixty-three cases were finally analyzed after excluding technically defective cases that cannot be evaluable on analogue images. The generalized kappa for analogue versus digital image was 0.83, for analogue versus scanned image 0.72, and for digital versus scanned image was 0.71; all were in excellent consensus. CONCLUSION: Digitalized cervicography system can be substituted for the film cervicography very reliably, and can be used as a promising telemedicine tool for cervical cancer screening.

Current status in the management of uterine corpus cancer in Korea / 부인종양

Uterine corpus cancer has increased in prevalence in Korean women over the last decade. Recently, elegant studies have been reported from many institutes. To improve treatment strategies, a review of our own data is warranted. This work will discuss the risks and prognostic factors for uterine corpus cancer, and the radiologic evaluation, prediction of lymph node metastasis, systematic lymphadenectomy, minimally invasive surgery, ovarian-saving surgery, fertility-sparing treatment, and adjuvant treatment in women with uterine cancer.

Pulmonary Toxicity after a Quick Course of Combinatorial Vincristine, Bleomycin, and Cisplatin Neoadjuvant Chemotherapy in Cervical Cancer

Pulmonary toxicity is one of the most serious adverse effects associated with a quick course of vincristine, bleomycin, and cisplatin neoadjuvant chemotherapy (NAC-VBP). The aim of this study was to evaluate pulmonary toxicity related to a quick course NAC-VBP. A total of consecutive 61 patients, who underwent at most 3 cycles of NAC-VBP every 10 days in the International Federation of Gynecology and Obstetrics (FIGO) stage IB-IIB cervical cancer from 1995 to 2007, were retrospectively analyzed. Of the 61 study subjects, 7 (11.5%) were identified to have pulmonary toxicity and 2 (3.3%) died of pulmonary fibrosis progression despite aggressive treatment and the use of a multidisciplinary approach. No factor predisposing pulmonary toxicity was identified. Initial symptoms were non-specific, but bronchiolitis obliterans organizing pneumonia and interstitial pneumonitis were characteristic findings by high-resolution computed tomography of the chest. The benefit of steroid therapy was uncertain and was associated with steroid-induced diabetes mellitus requiring insulin therapy in two patients. Fatal pulmonary toxicity is a major concern of a quick course NAC-VBP. In conclusion, these patients require special monitoring for bleomycin-induced pulmonary toxicity.

Expression and mutational analysis of TGF-beta/Smads signaling in human cervical cancers / 부인종양

OBJECTIVE: To define the molecular basis of TGF-beta1 function in cervical carcinogenesis, we explored the expression and mutational status of TGF-beta1, TGF-beta1 receptors, and Smads, the regulators of the TGF-beta1 signaling pathway, in human cervical cancers. METHODS: Expression of TGF-beta1, TGF-beta1 receptors, and Smads transcripts were determined by quantitative reverse transcription-polymerase chain reaction (RT-PCR), and sequence alteration was analyzed using RT-PCR-single-strand conformation polymorphism (SSCP) analysis. Genomic levels of TGF-beta1, TGF-beta1 receptors and Smads was also measured by quantitative genomic PCR. RESULTS: Abnormal overexpression of TGF-beta1 and abnormal reduction of type II TGF-beta1 receptor were identified in 36% (18 of 50) and 20% (10 of 50) of cervical cancer tissues, respectively. 22% (11 of 50) in Smad2 and 14% (7 of 50) in Smad4 revealed tumor specific mRNA reduction less than a half of normal means. In addition, no evidence for sequence alterations of the gene was found by RT-PCR-SSCP analysis. CONCLUSION: Our study demonstrates that disruption of TGF-beta/Smad signaling pathway exist in human cervical cancer, suggesting that abnormal expressions of the member of TGF-beta/Smad signaling pathway might contribute to the malignant progression of human cervical tumors via suppressing the tumor suppression function of TGF-beta1 1's tumor suppression function.

The effect of HER-2 polymorphism according to age on the risk and pathologic feature of endometrial cancer / 대한산부인과학회지

OBJECTIVE: To evaluate the relationship between single nucleotide polymorphisms (SNPs) in the HER-2 gene and age on the risk and pathologic feature of endometrial cancer. METHODS: We included 125 women with histologically confirmed endometrioid adenocarcinoma who underwent complete surgical staging. The control group consisted of 302 patients with benign gynecologic disease who underwent hysterectomy. Nine SNPs spanning the HER-2 gene were genotyped by SNP-IT assay using SNPstream(r) Genotyping System. Of 9 SNPs, 5 that were either monomorphic or had a lowallele frequency ( or =10%; these were included in the final analysis. Unconditional logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals (CIs) after adjustment for BMI. RESULTS: The mean age for endometrial cancer patients was 53.4+/-11.5 (range, 29-81) years. Forty-seven patients (38%) were or =50 years. Cases had a significantly higher BMI than controls (P<0.001). After adjustment for BMI, there was no significant relationship between HER-2 polymorphism and the risk of endometrial cancer based on age. Furthermore, HER-2 polymorphism did not affect the pathologic features of endometrial cancer based on age. CONCLUSION: Although there is no potential association among HER-2 polymorphisms, age, and endometrial cancer risk, large studies are needed in the future to assess the role of this polymorphism in endometrial cancer and for its combined effect.

The effect of HER-2 polymorphism according to age on the risk and pathologic feature of endometrial cancer / 대한산부인과학회지

OBJECTIVE: To evaluate the relationship between single nucleotide polymorphisms (SNPs) in the HER-2 gene and age on the risk and pathologic feature of endometrial cancer. METHODS: We included 125 women with histologically confirmed endometrioid adenocarcinoma who underwent complete surgical staging. The control group consisted of 302 patients with benign gynecologic disease who underwent hysterectomy. Nine SNPs spanning the HER-2 gene were genotyped by SNP-IT assay using SNPstream(r) Genotyping System. Of 9 SNPs, 5 that were either monomorphic or had a lowallele frequency ( or =10%; these were included in the final analysis. Unconditional logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals (CIs) after adjustment for BMI. RESULTS: The mean age for endometrial cancer patients was 53.4+/-11.5 (range, 29-81) years. Forty-seven patients (38%) were or =50 years. Cases had a significantly higher BMI than controls (P<0.001). After adjustment for BMI, there was no significant relationship between HER-2 polymorphism and the risk of endometrial cancer based on age. Furthermore, HER-2 polymorphism did not affect the pathologic features of endometrial cancer based on age. CONCLUSION: Although there is no potential association among HER-2 polymorphisms, age, and endometrial cancer risk, large studies are needed in the future to assess the role of this polymorphism in endometrial cancer and for its combined effect.

Role of 5'-CpG island hypermethylation of the FHIT gene in cervical carcinoma / 부인종양

OBJECTIVE: The abnormal expression of fragile histidine triad (FHIT) gene has been frequently reported in a variety of epithelial malignancies including cervical carcinoma. Furthermore, in a recent study it was proposed that transcriptional inactivation of FHIT, as a consequence of aberrant 5'-CpG island methylation, plays an important role in the carcinogenesis of human cervical carcinoma. The authors sought to determine whether abnormal FHIT transcription occurs in human cervical carcinoma, and if so, whether this abnormal expression is associated with aberrant 5'-CpG island methylation. In addition, the clinical significance of FHIT inactivation was investigated in Korean women with cervical cancer. METHODS: To examine for abnormal transcripts of the FHIT gene, quantitative RT-PCR, genomic DNA-PCR and nonisotopic RT-PCR-SSCP analysis were performed using the standard method. The methylation status was determined by methylation specific PCR and bisulfite DNA sequencing. RESULTS: The FHIT gene was down-regulated in 15 of 58 (25.9%) cervical carcinomas. FHIT promoter hypermethylation was detected in 15 of 15 (100%) abnormally expression in cervical carcinomas. Bisulfite DNA sequencing confirmed these findings and a significant correlation was found between CpG site hypermethylation and low FHIT expression. However, no significant correlation was found between reduced FHIT expression and clinicopathological characteristics. CONCLUSION: In this study, FHIT inactivation in cervical cancer was found to be strongly correlated with 5'-CpG island hypermethylation rather than a genetic alteration. Furthermore, no significant relation was found between a lack of FHIT expression and the prognostic factors of cervical cancer in our Korean cohort.

Expression of MTA1 and nm23-H1 protein in ovarian carcinomas in relation to lymph node metastasis / 부인종양

OBJECTIVE: Cancer metastasis is a complex process involving a sequential series of multi-step genetic events, which produces an imbalance between stimulatory and inhibitory genes for metastasis. Presently, we examined the expression of metastatic tumor antigen 1 (MTA1) and nonmetastatic protein 23 homologue H1 (nm23-H1) proteins in metastasized epithelial ovarian cancer cells. METHODS: Fifty-one primary epithelial ovarian tumors and corresponding lymph nodes (LNs) were examined immunohistochemically for expression of MTA1 and nm23-H1. Expression of these proteins was statistically evaluated. RESULTS: The frequency of MTA1 expression was 30.3% (10/33) in stage III/IV LNs but was absent (0/18) in stage I/II LNs (p=0.01). MTA1 expression was observed in 50% (6/12) of metastasizing LNs but in only 10.3% (4/39) of non-metastasizing LNs (p=0.01). In contrast with MTA1, nm23-H1 expression was evident in 16 of 18 (88.9%) stage I/II ovarian cancer tissue samples but only in 20 of 33 (60.6%) stage III/IV tissues (p=0.05), and nm23-H1 production was also observed in 75.6% (34/45) of ovarian cancer tissue with residual tumors under 2 cm in diameter, but in 2/6 (33.3%) of cancer tissue with residual tumors exceeding 2 cm in diameter (p=0.03). CONCLUSION: The degree of expression and imbalance of MTA1 and nm23H1 are correlated with ovarian cancer LN metastasis.

Frequent epigenetic inactivation of XAF1 (XIAP-associated factor 1), a candidate tumor suppressor, by aberrant promoter hypermethylation in human cervical carcinomas / 대한산부인과학회지

OBJECTIVE: X-linked inhibitor of apoptosis (XIAP) is the most potent member of IAP family that exerts antiapoptotic effects by interfering with activities of caspases. Recently, XIAP-associated factor 1 (XAF1) and two mitochondrial proteins, Smac/DIABLO and HtrA2, have been identified to negatively regulate the caspase-inhibiting activity of XIAP. We explore the candidacy of XAF1, Smac/DIABLO and HtrA2 as a tumor suppressor in cervical carcinogenesis and determine the mechanisms of altered XAF1 expression. METHODS: We investigated the expression and mutation status of the genes in 64 cervical cancer tissues, 5 cervical cancer cell lines and 10 normal cervical tissues. RESULTS: XAF1 transcript was not expressed or extremely low levels in 40% (2/5) of cancer cell line and in 31% (20/64) of primary carcinomas whereas Smac/DIABLO and HtrA2 are normally expressed in all cells. As somatic mutations of the gene was not detected, expression of XAF1 transcript was reactivated in all nonexpressor cell lines after 5-aza-2-deoxycytidine treatment. Bisulfite DNA analysis for CpG sites in the promoter region revealed a strong association between CpG sites hypermethylation and gene silencing. CONCLUSION: XAF1 undergoes epigenetic silencing in a considerable proportion of cervical carcinomas by aberrant promoter hypermethylation rather than genetic alterations, and closely associated with reduced gene expression. Although additional studies are required to determine the biological significance of XAF1 inactivation, it will be valuable to examine the expression status of XAF1 could be a clinically useful marker for cancer treatment.

A case of elevated serum transaminase levels associated with the use of ritodrine during pregnancy / 대한산부인과학회지

Ritodrine hydrochloride (Yutopar) is commonly used for the treatment of preterm labor. Published reports claim that many complications of prematurity have been averted by the administration of this drug. However, ritodrine hydrochloride has many side effects, including cardiovascular problem and metabolic error. Only a few reports have described the transient hepatitis (elevated transaminase) all over the world. The clinical significance and incidence of this side effect are still unclear. In this report, we present a case of elevated serum transaminase levels associated with the use of ritodrine during pregnancy with a brief review of the literatures.

The Follicular Fluid and Serum Concentrations of Vascular Endothelial Growth Factor in patients during IVF-ET Cycles / 대한산부인과학회지

OBJECTIVE: Several aspects of female reproduction, from folliculogenesis to corpus luteum function, are related to angiogenesis. The purpose of this study is to measure the concentrations of vascular endothelial growth factor (VEGF) in follicular fluid and serum in patients during In Vitro Fertilization-Embryo Transfer (IVF-ET) cycles. METHODS: In our prospective study, twenty-nine patients who underwent in vitro fertilization by GnRH agonist short protocol were assessed at the our infertility clinic from Aug. 2003 to July 2005. Serum VEGF and follicular fluid VEGF levels were measured in all patients at the time of oocytes retrieval. The assay technique used in this study was ELISA for serum and follicular fluid VEGF. RESULTS: Of 29 cycles, 10 cycles were pregnant (34.5%). A positive correlation existed for follicular fluid VEGF and chronologic age (r=0.428, p-value=0.021). Follicular fluid VEGF concentration showed an inverse relationship with the total number of oocytes retrieved and follicles (r=-0.493, p-value=0.007; r=-0.474, p-value=0.009). But there was no statistically significant relationship between follicular fluid VEGF concentration and serum VEGF concentration (rho=0.347). Follicular fluid VEGF concentration was significantly higher in the non-pregnant group (1468.38+/-727.33 pg/mL) compared to the pregnant group (676.48+/-542.07 pg/mL) (p-value=0.003). CONCLUSION: Our data provide some of the evidences that elevated VEGF concentrations in the follicular fluid are associated with poor conception rates in the IVF-ET cycles.

Expression of Vascular Endothelial Growth Factor and Thrombospondin-1 mRNA Related to Microvessel Density in Invasive Cervical Carcinomas / 대한산부인과학회지

OBJECTIVE: Vascular Endothelial Growth Factor (VEGF) is a potent stimulator of angiogenesis in solid tumors. Thrombospondin-1 (TSP-1) has inhibitory role in cancer cell proliferation and metastasis. To analyze the correlation with expression of VEGF and TSP-1 including microvessel density (MVD), the levels of VEGF/TSP-1 mRNA expression and microvessel count (MVC) were estimated in patients with invasive cervical carcinomas. METHODS: From 1996 to 1999, 37 carcinomas and 7 normal cervical tissues were collected, frozen and stored at -70 degrees C until used. The levels of VEGF and TSP-1 mRNAs were determined by quantitative RT-PCR. MVD was assessed by immunostaining for factor VIII-related antigen. The results are expressed as the largest number of microvessels present within a single x 40 field, and counted at x 100 field. RESULTS: Quantitative RT-PCR analysis demonstrated abnormally increased VEGF mRNA expression levels (>0.66) in 14 (37.8%) of 37 cervical carcinomas comparing to control groups (mean: 0.32+/-0.09) and abnormally low TSP-1 mRNA expression levels (<0.72) in 13 (35.1%) of 37 cervical carcinomas comparing to control groups (mean: 0.51+/-0.07). MVC was higher in tumors showing decreased expression of TSP-1 (but not statistically) (p<0.18) and overexpression of VEGF (p<0.05). When VEGF overexpression was accompanied with reduced TSP-1 expression, the microvessel density showed significantly increased pattern (p<0.05). CONCLUSION: Our study demonstrates that reduced expression of TSP-1 mRNAs and overexpression of VEGF mRNAs may be an important contributing factor in cervical carcinomas. Moreover, the inversed correlation of VEGF and TSP-1 mRNA expression can be an evidence of angiogenic role in cervical carcinomas.

Simultaneous occurrence of a granulosa cell tumor and a serous cystadenoma in the same ovary: A case report / 대한산부인과학회지

This is the first case report of a patient with a large serous cystadenoma accompanied by a juvenile granulosa cell tumor that was discovered in the remaining ovarian tissue. A 25-year-old female was presented with constipation and amenorrhea. Ultrasonography revealed a large cystic mass in the left ovary with a normal uterus. The remaining ovarian tissue seemed normal at first look after cystectomy, but showed abnormal consistency on palpation. The remaining ovarian tissue was removed and granulosa cell tumor was confirmed by pathologic examination. The patient has been followed up for 30 months without evidence of recurrence. We would like to emphasize the importance of inspection, and palpation of remaining ovarian tissue during operation to avoid risks of remaining ovarian pathology.

The Relationship of Pulse-wave Velocity with Carotid Intima-media Thickness and Carotid Artery Distensibility

BACKGROUND: Sonographic evaluation of arterial wall morphology and elasticity, and the evaluation of pulse wave velocity (PWV) are widely used noninvasive modalities for evaluating atherosclerosis and cardiovascular risk assessment. Several studies suggest that intima-media thickness (IMT) and arterial elasticity indices may sensitively reflect different vasculopathic processes. Thus the purpose of this study was to evaluate the relationship between carotid IMT, distensibility and PWV. METHODS: We examined 14 consecutive patients (mean age 51+/-8 years, 8 males) with carotid ultrasound and noninvasive vascular screening device. Carotid IMT, carotid artery distensibility, and brachial-ankle PWV were measured. RESULTS: The brachial-ankle PWV was inversely correlated with carotid distensibility (r= 0.628, p<0.05), but not correlated with IMT (r=0.099, p=0.738). And there was no relationship between IMT and carotid distensibility (r= 0.207, p=0.478). CONCLUSION: Carotid distensibility had good correlation with brachial-ankle PWV, so it might be used for assessing arterial stiffness and evaluating cardiovascular risk.

A Case of Prenatally Diagnosed Jacobsen syndrome / 대한산부인과학회지

Jacobsen syndrome is a rare condition associated with the deletion of the long arm of chromosome 11. Though several authors reported prenatal sonographic findings of the Jacobsen syndrome, there are no common disease-specific features. The majority of affected cases were identified postnatally by chromosomal analysis of the dysmorphic or mentally retarded patients. We present a prenatal case of Jacobsen syndrome with a brief review of literature. A routine scanning in a 32-year-old primigravida at 17.3 weeks' gestation showed abnormal ultrasonographic findings consistent with increased nuchal thickening and subtle cardiac abnormalities (levorotated heart axis of greater than 60 degrees and thickened ventricular wall). The patient underwent amniocentesis, and the karyotype showed deletion of the long arm of chromosome 11, 46,XX, del (11) (q23.1q24). The fetal autopsy performed following medical termination confirmed the prenatal findings. The present case represents that the prenatal sonographic detection of the nuchal thickening and subtle cardiac abnormality should warrant a careful assessment of fetal anatomy and prompt cytogenetic analysis looking for chromosomal aberrations.

A Case of Endometrial Cancer with Hereditary Non-Polyposis Colorectal Cancer (HNPCC) / 대한산부인과학회지

Endometrial cancer is the most common malignant disorder that can be associated with hereditary non-polyposis colorectal cancer (HNPCC), which is known as Lynch II syndrome. HNPCC is a polyposis of the colon which is inherited in an autosomal dominant pattern and can cause cancer in other organs, especially in the endometrium. The overall risk of a women with HNPCC to develop endometrial cancer is 40-60%, much higher than the 3% of the general population of women. The average age of developing endometrial cancer of a women with HNPCC is 45 years of age and is often found before development of colon cancer. We have recently experienced a case of de novo type of hereditary non-polyposis colorectal cancer associated with endometrial cancer, hence we are reporting this case with a brief review of literatures.

Clinicopathologic analysis and prognosis of uterine cervical cancer / 대한산부인과학회지

OBJECTIVE: The object of this retrospective study was to evaluate the clinical characteristics and prognosis of invasive uterine cervical cancer. METHODS: 445 evaluable patients with invasive cancer of the cervix were treated at Kyung Hee Medical Center from March 1984 to March 1998. In this retrospective study, we studied the clinico-pathologic characteristics (age, FIGO stage, histologic type, nodal metastasis, and treatment modalities et al) by the review of medical records. RESULTS: 1. The age distribution among the 445 patients ranged from 27 to 90 years, mostly at 51-60 years, which occupied 26.5%. The mean age was 48.9 years. 2. The frequent number of pregnancies was 3-4 times, which occupied 33.3%. The mean number of pregnancies was 5.3 times. The frequent number of deliveries was 3-4 times, which occupied 41.7%. The mean number of deliveries was 3.2 times. 3. Subdivision of 445 cases of invasive cervical carcinoma were made according to the FIGO clinical staging: Stage Ia 77 cases (17.3%), Stage Ib 156 cases (35.0%), Stage IIa 95 cases (21.3%), and Stage IIb 52 cases (11.7%), Stage III 40 cases (9.0%), and Stage IV 25 cases (5.6%). 4. Histologically, squamous cell carcinoma comprised 91.2%, adenocarcinoma 6.6%, adenosquamous carcinoma 1.7%, and others 0.5%. 5. The types of treatment were as follows; operation 36.2%, operation with chemoradiation 13.8%, operation with radiotherapy 11.4%, operation with chemotherapy 11.0%, radiation 8.8%, chemoradiation 6.9%, and others 12.0%. 6. All the excised pelvic and para-aortic lymph nodes (LN) were histologically examined and the incidence of metastasis by clinical stage showed as follows. In Stage Ib 16.4%, 2.3%, in Stage IIa 24.5%, 3.2%, and in the stage IIb 26.7%, 6.7% respectively. The most frequently involved LN among regional pelvic LN is the obturator LN (32%) followed by the external iliac LN (29%). 7. Based on the 445 cases who were available to follow up 5 years or more after treatment, survival rates were studied and analyzed. 5 year survival rate by stage revealed 96% in stage Ia, 87.3% in stage Ib, 81.3% in stage IIa, 72% in stage IIb, 47% in stage III, and 26.4% in stage IV. CONCLUSION: FIGO stage, involvement of resection margin, and LN involvement had prognostic significance in multivariate analysis (p<0.01). However, tumor size, histologic type, depth of cervical wall invasion, and lymphovascular space invasion did not.