• Journal of Genetic Medicine
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• v.7 no.2
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• pp.125-132
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• 2010

Purpose: Preimplantation genetic diagnosis (PGD), also known as embryo screening, is a pre-pregnancy technique used to identify genetic defects in embryos created through in vitro fertilization. PGD is considered a means of prenatal diagnosis of genetic abnormalities. PGD is used when one or both genetic parents has a known genetic abnormality; testing is performed on an embryo to determine if it also carries the genetic abnormality. The main advantage of PGD is the avoidance of selective pregnancy termination as it imparts a high likelihood that the baby will be free of the disease under consideration. The application of PGD to genetic practices, reproductive medicine, and genetic counseling is becoming the key component of fertility practice because of the need to develop a custom PGD design for each couple. Materials and Methods: In this study, a survey on the contents of genetic counseling in PGD was carried out via direct contact or e-mail with the patients and specialists who had experienced PGD during the three months from February to April 2010. Results: A total of 91 persons including 60 patients, 49 of whom had a chromosomal disorder and 11 of whom had a single gene disorder, and 31 PGD specialists responded to the survey. Analysis of the survey results revealed that all respondents were well aware of the importance of genetic counseling in all steps of PGD including planning, operation, and follow-up. The patient group responded that the possibility of unexpected results (51.7%), genetic risk assessment and recurrence risk (46.7%), the reproduction options (46.7%), the procedure and limitation of PGD (43.3%) and the information of PGD technology (35.0%) should be included as a genetic counseling information. In detail, 51.7% of patients wanted to be counseled for the possibility of unexpected results and the recurrence risk, while 46.7% wanted to know their reproduction options (46.7%). Approximately 96.7% of specialists replied that a non-M.D. genetic counselor is necessary for effective and systematic genetic counseling in PGD because it is difficult for physicians to offer satisfying information to patients due to lack of counseling time and specific knowledge of the disorders. Conclusions: The information from the survey provides important insight into the overall present situation of genetic counseling for PGD in Korea. The survey results demonstrated that there is a general awareness that genetic counseling is essential for PGD, suggesting that appropriate genetic counseling may play a important role in the success of PGD. The establishment of genetic counseling guidelines for PGD may contribute to better planning and management strategies for PGD.

• Radiation Oncology Journal
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• v.17 no.3
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• pp.217-222
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• 1999

Purpose : To evaluate prognostic factors and survival rates of the patients who received radiation therapy for locally recurrent uterine cervical cancer after curative surgery. Materials and Methods : Between October 1983 and July 1990, fifty three patients who received radiation therapy for locally recurrent cervical cancer after curative surgery at the Department of Therapeutic Radiology, Kangnam St. Mary's Hospital, The Catholic University of Korea were analysed retrospectively. Age at diagnosis ranged from 33 to 69 years (median 53 years). Pathological analysis showed that forty five ($84.9\%$) patients had squamous cell carcinoma, seven ($13.2\%$) patients had adenocarcinoma, and one (1.9%) patient had adenosquamous cell carcinoma. The interval between hysterectomy and tumor recurrence ranged from 2 months to 25 years (mean 34.4 months). The recurrent sites were vaginal stump in 41 patients ($77.4\%$) and pelvic side wall in 12 patients ($22.6\%$). Recurrent tumor size was devided into two groups : less than 3 cm in 43 patients ($81.1\%$) and more than 3 cm in 10 patients ($18.9\%$). External beam irradiation of whole pelvis was done first up to 46.8 Gy to 50.4 Gy in 5 weeks to 6 weeks, followed by either external beam boost to the recurrent site in 18 patients ($34\%$) or intracavitary irradiation in 24 patients ($45.3\%$). Total dose of radiation ranged from 46.8 Gy to 111 Gy (median 70.2 Gy). Follow up period ranged from 2 to 153 months with a median of 35 months. Results : Overall response rate was $66\%$ (35/53). Among them, six patients ($17.1\%$) relapsed between 7 months and 116 months after radiation therapy (mean 47.7 months), Therefore overall recurrence rate was $45.3\%$. Overall five-year actuarial survival rate was $78.9\%$ and distant failure rate was $10\%$ (5/50). The significant prognostic factors affecting survival rate were interval between primary surgery and tumor recurrence (p=0.0055), recurrent tumor size (p=0.0039), and initial response to radiation therapy (p=0.0428). Complications were observed in 10 ($20/%$) patients, which included mild to moderate lower gastrointestinal, genitourinary, or skin manifestations. One patient died of pulmonary embolism just after intracavitary irradiation. Conclustion : Radiation therapy is the effective treatment for the patients with locally recurrent cervical cancer after curative surgery. These results suggest that interval between primary surgery and tumor recurrence, recurrent tumor size, and initial response to radiation therapy were significant prognostic factors for recurrent cervical cancer.

• Radiation Oncology Journal
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• v.14 no.3
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• pp.191-199
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• 1996

Purpose : To evaluate 5-year survival rate, patterns of failure and complications of cervical cancer treatment, fifty nine patients treated by curative radiotherapy for the uterine cervical cancer were analyzed retrospectively. Materials and Methods : From March 1986 to May 1990, fifty nine patients with histologically proven uterine cervical cancer were analyzed. According to FIGO stage, there were 2 patients ($3.4\%$) in stage Ib, 2 patients ($3.4\%$) in stage IIa, 31 patients ($52.5\%$) in stage IIb, 15 patients ($25.4\%$) in stage IIIb, 9 patients ($15.3\%$) in stage IV. External RT was per formed by 6 MVLINAC with daily 1.8 Gy, 5 times per week and followed by ICR. A point dose of ICR was calculated to 30-43.66 Gy (median: 34.6 Gy). These techniques delivered total A Point dose of 80.4 to 109.8 Gy (median: 85 Gy). Patients had been followed up from 2 to 110 months (median: 61 months) Results : The overall 5-year survival rate & disease free survival rate were $55.9\%$ and $55.0\%$ respectively. According to FIGO stage, the 5-year survival rate for less than IIa, IIb, IIIb, IV were $75.0\%$, $74.8\%$, $26.7\%$, $33.3\%$, respectively. In univariate analysis, the 5-year survival rate for stage IIb and below versus stage IIIa and above revealed $74.8\%$, $29.2\%$ respectively (P<0.005). According to the hemoglobin level during RT, the 5-rear survival rate of was $73.3\%$ for patients with Hg 10 gm/dL or higher, in contrast to $0\%$ for those with lower than 10 gm/dL (p<0.005). In 18 patients with nonbulky tumor (<5cm), the 5-year survival rates were $71.8\%$. The 5-rear survival rates for 18 patients with 5 cm or greater in tumor diameter were $22.2\%$ (p<0.005). The 5-year survival rate for Patient age of above 50 years and below were $65.3\%$ $34.2\%$ respectively (p<0.05). ECOG performance status. pathologic finding, total dose, total treatment time were not statistically significant factors. The significant prognostic factors affecting overall 5-year survival rate by multivariate analysis showed the hemoglobin level during RT (P=0.0001), tumor size (p=0.0390), FIGO stage (p=0.0468). Total recurrence rate was $23.7\%$ local failure $15.2\%$ (9/59), distant metastasis $6.8\%$ (4/59), local and distant metastasis $1.7\%$ (1/59). According to the RTOG/EORTC Soma Scales, the late complication rate was $23.8\%$ (14/59) The late complication rate of colorectum and genitourinary tract were $15.3\%$ (9/59), $8.5\%$ (5/59), respectively: 10 patients ($17.0\%$) were grade 2, 3 Patients ($5.1\%$) were grade 3 and one patient ($1.7\%$) was grade 4. The late complications were radiation proctitis, rectal bleeding, radiation colitis, diarrhea and radiation cystitis in decreasing order. Conclusion : For improvement of therapeutic results, prospective randomized trials are recomended to discover new prognostic factors and more aggressive radiation therapeutic methods are needed for poor prognostic patients. The adjuvant chemotherapy or radiation-sensitizing agents must be considered to inhibit regional and distant metastasis.

• Childhood Kidney Diseases
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• v.4 no.1
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• pp.77-83
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• 2000

Purpose: Pregnancy in transplanted mother is considered as a high-risk pregnancy, and significant incidences of prematurity and low-birthweight(LBW) infants have been reported. The objective of this study is to examine the outcome of pregnancy in transplanted mothers and to evaluate the current growth status in their children. Patients and Methods: We retrospectively reviewed 54 pregnancies in 40 kidney recipients until June 1999. Outcomes of pregnancy were reviewed and assessment of the current growth status in children was performed. Results: 54 pregnancies in 40 recipients were identified; 22 ended in termination of pregnancy because of unwanted pregnancy or therapeutic purposes. And of the other 32, 29 livebirths resulted in 28 recipients. The mean age of conception was $30.3{\pm}3.8$ years, with a mean interval from transplantation to conception of $35.9{\pm}23.2$ months. All patients were maintained on immunosuppressive regimens. Incidence of drug-treated hypertension(HTN) prior to pregancy was $52\%$, HTN during pregnancy, $48\%$; preeclampsia, $41\%$; urinary tract infection, $48\%$; oligohydramnios $4\%$; and no rejection during pregnancy and up to 3month post delivery. Of the 29 liveborn infants, prematurity(<37wk) occurred in $52\%$, LBW(<2500g) in $62\%$, VLBW(<1500g) in $7\%$ and $48\%$ born intrauterine growth retardation(IUGR). Mean gestational age was $36.3{\pm}3.0\;wk$; a mean birthweight, $2.23{\pm}0.6\;kg$; a mean birth-height, $45.1{\pm}3.6cm$. Current mean height standard deviation score (height SDS) was $0.29{\pm}0.91$ and mean weight SDS was $0.62{\pm}1.34$. Only one child($4\%$) under 1 year of age was below 10 percentile in height. Most of children had no medical problems except for 4 children; cleft palate(1), tuberous sclerosis(1), essential hematuria(1), and one child expired due to sepsis. Conclusion: This study showed similar incidence of premaure birth($57\%$) and low birth weight infants($62\%$), but lower incidence of spontaneous abortion($5.6\%$) was observed and compared to other studies. Postnatal growth in majority of children($96\%$) achieved catch-up growth before 1 year. Present study supports a more optimistic view of pregnancy in renal transplant mother and normal growth in their children.