• Journal of Genetic Medicine
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• 제9권1호
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• pp.17-21
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• 2012

Purpose: The aim of this study was to analyze parental decisions regarding pregnancies in which the fetus had sex chromosome abnormalities (SCA) over a ten-year period. Materials and Methods: We collected and reviewed records from our hospital for 2001-2010 and a genetic specialist provided-genetic counseling. Results: We diagnosed 130 cases (0.71%) with SCA out of 18,376 prenatal cases from 2001 to 2010. We reviewed the records and the results of all pregnancies. We also included cases (n=84) of apparently normal anatomic fetuses to analyze the factors influencing parental decisions. We excluded 34 cases with an obvious anomaly or a presumably bad outcome and 12 cases that were not followed up. Forty-three couples (51.2%) continued their pregnancies while forty-one (48.8%) terminated them. Of 38 mosaicism cases, 21 (55.3%) were continued. Among the 20 pregnancies assisted by reproductive techniques, 15 (75%) were continued (P=0.02). More pregnancies were continued when genetic counseling was provided (61.9%) compared to cases in which it was not provided (19%) (P=0.01). Conclusion: Genetic counseling is important in providing appropriate information to parents. Establishing guidelines and protocols will help both obstetricians and parents to make informed decisions.

• 여성건강간호학회지
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• 제24권1호
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• pp.58-70
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• 2018

Purpose: To provide accurate information on induced labor and find strategies to enhance women's childbirth satisfaction. Methods: Participants were pregnant women expected to have normal vaginal delivery. A total of 113 women with induced labor and 61 women with spontaneous labor were surveyed. Data were collected using a questionnaire and electronic medical records. Results: The following variables related to labor progress showed significant differences between the induced labor group and the spontaneous labor group: length of the first stage of labor in primigravidas, use of analgesic, incidence of uterine hyperstimulation, incidence of fetal distress, and medical treatment for the expectant mother. Delivery type and the incidence of postpartum complications showed significant difference between the two groups. Induced labor women's childbirth satisfaction was mainly affected by the process of labor whereas spontaneous labor women's childbirth satisfaction was affected by the outcome of childbirth. Conclusion: Medical staff should have accurate information on the risk of induced labor and the benefits of a natural delivery. Moreover, medical staff should provide necessary information and environment for women to participate in the decision-making process.

• Asian Pacific Journal of Cancer Prevention
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• 제14권11호
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• pp.6501-6505
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• 2013

To obtain a screening and early detection reference for individuals who have a family history of cancer on the paternal side, we collected and analyzed data from 240 pairs in which both fathers and their children were diagnosed with cancer. Disease categories of fathers and sons were similar to that of the general population of China, whereas daughters were different from general female population with high incidence of breast cancer and gynecological cancer. Sons were more likely than daughters to have the same type of cancer, or to have cancer in the same organ system as their fathers (P < 0.0001). Sons and daughters developed malignant diseases 11 and 16 years earlier than their fathers, respectively (P < 0.0001 for both sons and daughters). Daughters developed malignant diseases 5 years earlier than sons (P < 0.0001). Men with a family history of malignant tumors on the paternal side should be screened for malignancies from the age of 45 years, or 11 years earlier than the age of their fathers' diagnosis, and women should be screened from the age of 40 years, or 16 years earlier than the age at which their fathers were diagnosed with cancer. Lung cancer should be investigated in both men and women, whilst screening should focus on cancer of the digestive system in men and on breast and gynecological cancer (ovary, uterine and cervical cancer) in women.

• Asian Pacific Journal of Cancer Prevention
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• 제17권7호
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• pp.3095-3099
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• 2016

Background: Cervical cancer is the most frequently diagnosed cancer among women in India. Understanding quality of life (QOL) in women undergoing chemo-radiotherapy for cervical cancer will help in introducing interventions for better care and outcomes in these women. This study assessed QOL before and after chemo-radiotherapy in cervical cancer patients. Materials and Methods: This follow-up study covered sixty-seven newly diagnosed women with advanced cervical cancer (stages 2b to 4b). Structured questionnaires (the European Organization for Research and Treatment of Cancer, EORTC QLQ-C30 and EORTC QLQ-CX24) were used to assess the change in QOL after 6 months of treatment. Results: The mean age of women at the time of detection of cervical cancer was $52.3{\pm}11.29$ years (Range 30-75 years). Six months survival was 92.53%. The mean global health score of cervical cancer patients after six months of treatment was 59.52, which was significantly higher than the pre-treatment score of 50.15 (p=0.00007). Physical, cognitive and emotional functioning improved significantly (p<0.05) after treatment. Fatigue, pain, insomnia and appetite loss improved but episodes of diarrhea increased after treatment. The mean "symptoms score" using EORTC QLQ-CX24 post treatment was 20.0 which was significantly lower as compared to the pre- treatment score 30.0 (p<0.00001). Sexual enjoyment and sexual functioning decreased significantly after treatment. Conclusions: QOL of newly diagnosed cervical cancer patients improved significantly following chemo-radio therapy. Enhancement was also demonstrated on three of the five functional scales of EORTC QLQ-C30. To further improve QOL, interventions focusing on social and psychological support and physical rehabilitation may be needed.

• 의학교육논단
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• 제15권1호
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• pp.54-58
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• 2013

There has been an increase in the number of female doctors worldwide. Women now represent half of all medical students, with almost the same numbers of men and women becoming physicians. There is a pool of talented women in our midst, and it is our responsibility as leaders to find those individuals and groom them for progress. However, residency training and academic education still resemble the historical model when there were few women in medicine. Gender differences in medical specialty choices can cause a maldistribution of doctors by specialty and geographical area, which could cause significant problems at the national health care system level. Major challenges facing female physicians include gender discrimination and sexual harassment, and work/family conflicts. Women are largely under-represented in academic medicine and experience discrimination in the academic environments. Recent issues about related to the "feminization of medicine" raise important questions forabout how academic medicine deals with gender issues. To better accommodate the needs of female doctors and ensure that they will have successful careers, structural and cultural changes to medical educations are needed.

• Journal of Microbiology and Biotechnology
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• 제18권4호
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• pp.788-794
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• 2008

The aim of the present study is to estimate the overall prevalence and type distribution of human papillomavirus (HPV) in Korean women, through literature review and meta-analysis. We searched published data for the period between 1995 and 2007 using the following inclusion criteria; (1) studies using type-specific HPV tests, (2) data from Korean female, (3) with cytologic or pathologic results, (4) having more than 20 cases for each subgroup classified by cytologic results, and (5) HPV detection including types 16, 18, and at least one other type. In total, 18 studies (13,842 cases) published up to April 2007 were identified and selected. Adjusted overall HPV prevalence was 23.9% (95% CI: 23.8-24.1%) in women with normal cytology and 95.8% (95% CI: 95.4-96.2%) in women with cervical cancer. Type 16 was predominant regardless of cervical disease status, and type 58 occupied a significantly larger proportion in high-grade cervical intraepitheliallesions and cervical cancer in Korean women. HPV types 58, 33, and 52 together accounted for about 20% of infections in cervical cancer and high-grade intraepitheliallesions. After introduction of HPV prophylactic vaccines, extended protection, especially against types 58, 33, and 52, will be an important issue for cervical cancer prevention in Korea. The future dominant genotypes will require follow-up epidemiological studies with a large-scale, multicentered, and prospective design.

• Asian Pacific Journal of Cancer Prevention
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• 제14권11호
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• pp.6579-6584
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• 2013

Background: With effective early treatments, many breast cancer patients suffer from psychological distress due to adverse effects and lifelong physical disfigurement. Our study aimed to evaluate the psychopathological profile of breast cancer patients in comparison with healthy women and explored demographic correlates. Method: We consecutively enrolled breast cancer patients who came to the hospital for follow-up or rehabilitation care after primary treatment, and healthy female relatives or friends of inpatients in the Cancer Institute of Chinese Academy of Medical Sciences between August 30, 2010 and January 1, 2012. Psychopathological profile was assessed based on the Symptom Checklist-90-R (SCL-90-R) for patients and controls. We compared demographics such as age, ethnicity, education, marriage, and occupation, and incorporated these data plus cancer status for the association with the general SCL-90-R index and scores for 9 major symptom dimensions in multiple regression analysis. Results: We surveyed a total of 291 female breast cancer patients and 531 healthy women. The average age was $55.1{\pm}6.40$ years for breast cancer patients and $43.1{\pm}12.8$ for healthy controls (P<0.01). The mean survival was 5.20 years for cancer patients (range, 0.60-9.90 years). There were statistically significant differences in education, marriage, and occupation between the two groups (P<0.01). General index ($1.45{\pm}0.45$ versus $1.32{\pm}0.37$) and 8 dimension scores (excluding anxiety) on SCL-90-R were significantly higher in patients (P<0.05). Multiple regression analysis showed that the breast cancer status was positively correlated with general SCL-90-R index and 6 dimension scores (excluding the anxiety, phobic anxiety and paranoid ideation dimensions) (P<0.05). Regression coefficients ranged from 0.10 (depression) to 0.19 (somatization). Higher interpersonal sensitivity was noticed in single women compared to married women. Conclusions: Chinese patients with breast cancer demonstrate greater psychopathology compared to healthy controls. The breast cancer status is an independent contributing factor to the general psychopathological profile. Breast cancer patients should be given particular counseling and care to alleviate their psychological distress.

• Journal of Genetic Medicine
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• 제2권2호
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• pp.53-57
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• 1998

Spinal muscular atrophy (SMA) type I is a common severe autosomal recessive inherited neuromuscular disorder that has been mapped to chromosome 5q11.2-13.3. The survival motor neuron (SMN) gene, a candidate gene, is known to be deleted in 96% of patients with SMA type I. Presently, PCR and single strand conformation polymorphism (PCR-SSCP) analyses have been made possible for application to both archival slides and paraffin-embedded tissues. Archival materials represent valuable DNA resources for genetic diagnosis. We applied these methods for the identification of SMN gene of SMA type I in archival specimens for the prenatal diagnosis. In this study, we performed the prenatal diagnosis with chorionic villus sampling (CVS) cells on two women who had experienced neonatal death of SMA type I. DNA extraction was done from archival slide and tissue materials and PEP-PCR was performed using CVS cells. In order to identify common deletion region of SMN and neuronal apoptosis-inhibitory protein (NAIP) genes, cold PCR-SSCP and PCR-restriction site assay were carried out. Case 1 had deletions of the exons 7 and 8, and case 2 had exon 7 only on the telomeric SMN gene. Both cases were found to be normal on NAIP gene. These results were the same for both CVS and archival biopsied specimens. In both cases, the fetuses were, therefore, predicted to be at very high risk of being affected and the pregnancy were terminated. These data clearly demonstrate that archival slide and paraffin-embedded tissues can be a valuable source of DNA when the prenatal genetic diagnosis is needed in case any source for genetic analysis is not readily available due to previous death of the fetus or neonate.

• Journal of Genetic Medicine
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• 제6권2호
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• pp.175-178
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• 2009

22q11.2미세중복 증후군은 학습장애, 선천적 기형에서부터 정상에 이르기까지 다양한 표현형을 나타내는 증후군으로써, 22q11.2 미세결실 증후군인 DiGeorge 증후군과 동일한 위치에서 발생하는 질환이며, 이러한 원인은 유전적 불안정성이 높은 low-copy repeats (LCR) 부위에서 일어나는 유전체의 결손이나 중복에 의해 형성되는 것으로 보고되고 있다. 최근 array CGH가 임상분야에 적용됨에 따라 22q11.2 미세중복 증후군의 진단이 증가되고 있다. 이론적으로 22q11.2 부위의 미세중복이나 미세결실의 빈도는 동일하게 발생해야 하지만, 현재까지 미세결실에 비해 미세중복의 증례보고는 상대적으로 드물며 이는 증상이 없는 경우가 많기 때문인 것으로 알려져 있다. 특히 이전 보고에서 산전에 발견된 미세중복의 증례는 단1례 만이 보고된 바 있다. 저자들은 산전에 진단된 22q11.2 미세중복 증후군 1례의 보고를 통해 유전상담의 중요성과 array CGH의 임상 적용에 관하여 논하고자 한다.

• Journal of Genetic Medicine
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• 제6권1호
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• pp.95-99
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• 2009

산전에서 성염색체와 13번, 18번, 21번 염색체를 제외한상염색체의 모자이시즘은 발생빈도가 낮고 증례보고가 적어서 예후 예측이 어렵다. 저자들은 삼염색체성 5번, 16번, 20번의 산전진단 4례를 보고하고자 한다. 모자�� 삼염색체성 20번 2례 중 증례 1은 양수 염색체 검사에서 36.6%의 모자이시즘을 보였으나 재검한 양수 검사에서는 보다 높은 빈도 (62.1%)를 보였다. 증례2에서는 양수 염색체 검사에서 모자이시즘 삼염색체성 20번이 5.25% 였으나, 재검 양수천자결과는 정상 핵형을 보였다. 증례 3은 30개의 양수세포에서 삼염색체성 16번의 모자이시즘이 13.6% 관찰되었다. 임신 종결 후, 총60개의 태아 혈액 세포에서 모자이시즘 없는 정상 핵형이 관찰되었으나 태아의 피부 섬유아세포에서 얻은 40개의 중기상 세포에서는 22.5%의 삼염색체성 16번 모자이시즘을 보였다. 부검결과 심실중격결손(ventricular septal defect)이 관찰되었다. 증례 4는 76개의 중기상 세포에서 10.5%의 삼염색체성 5번 모자이시즘을 보였으나 태아의 초음파검사에서는 정상소견을 보였다. Level III 모자이시즘은진성 모자이시즘으로 간주되지만 발생빈도가 낮은 상염색체의 삼염색체성 모자이시즘은 태아의 예후를 예견하기 어려우므로 산전 진단시 여러 조직의 재검 및 태아 초음파 소견과 함께 다양한 임상적 접근 방법으로 그 해석에 신중을 기해야 할 것으로 사료된다.