• Journal of Korean Neurosurgical Society
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• 제59권3호
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• pp.187-191
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• 2016

Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis.

• 임상간호연구
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• 제14권3호
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• pp.153-163
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• 2008

Purpose: The purpose of this research, using descriptive correlation design was to identify the extent to which the mothers having children with rare genetic metabolic diseases(MPS, PWS) have parenting stress and guilt feeling. Method: This study used PSI /SF(Abidin, 1995) and Guilt Index as devised herein. From 156 mothers, data were collected from February to July 2006, using self-administered questionnaires. This study received the approval from IRB at S Hospital (IRB File No: 2006-02-014). Data were analyzed with descriptive statistics, t-test, ANOVA, and correlation. Results: Mothers felt very high level of parenting stress and sense of guilt. Parenting stress was related positively to guilt feeling. Conclusion: These findings could help understand the families of children with rare genetic metabolic diseases and those provide basic information in developing effective counseling and education programs for relief of parenting stress and guilt feeling. This study would be significant in the fact that it is the first research, targeting on the families of children with rare genetic metabolic diseases in Korea.

• 종양간호연구
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• 제11권3호
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• pp.200-209
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• 2011

Purpose: The purpose of this micro-ethnography is to examine whether science and societal changes impact family communication patterns among a convenience sample of 16 Korean women. Methods: The authors observed family communication in the context of a new breast cancer genetic screening and diagnostic testing program to detect BRCA gene mutations in Korean women at highest risk. Results: Analysis of in-depth interviews and field notes taken during participant observation illustrated that communication patterns in families vary according to a woman's position in the family. If a grandmother tests positive for a gene mutation, her daughters make decisions on her behalf; they open and maintain the communication channel among family members. If a housewife is diagnosed with cancer and a genetic mutation, she immediately consults her husband and her sisters. The husband creates an open communication channel between his wife, his parents and his siblings. As a result, a woman's cancer is a concern for the whole family not merely a woman's secret or crisis. Conclusion: Cultural differences are important to consider when designing new genetic service programs in different countries.

• Journal of Genetic Medicine
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• 제7권1호
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• pp.16-23
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• 2010

많은 내분비 질환이 유전적 요소를 갖고 있다. 단일 유전자 질환에서는 유전적 요인이 주요 원인이나 다인자성 질환에서는 환경과 생활습관 등이 함께 병인으로 작용한다. 유전성 내분비 질환의 분자유전학적 병인에 대한 이해에 대하여 최근 많은 발전이 있어 왔으며 분자유전학적 기술의 응용으로 질환에 대한 이해와 이를 이용한 진단 및 유전 상담에 도움이 되고 있다. 유전학적 검사로 특정 질환의 돌연변이를 증명하는 것은 진단이 모호한 경우에서 정확한 진단과 산전 진단, 보인자 검사에 적용될 수 있다. 그러나 유전자 검사만으로 임신 중절과 관련된 산전 진단에 이용하는 데에는 신중을 기해야 한다.

• Clinical and Experimental Pediatrics
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• 제54권11호
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• pp.473-476
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• 2011

Primary hypokalemic periodic paralysis (HOKPP) is an autosomal dominant disorder manifesting as recurrent periodic flaccid paralysis and concomitant hypokalemia. HOKPP is divided into type 1 and type 2 based on the causative gene. Although 2 different ion channels have been identified as the molecular genetic cause of HOKPP, the clinical manifestations between the 2 groups are similar. We report the cases of 2 patients with HOKPP who both presented with typical clinical manifestations, but with mutations in 2 different genes ($CACNA1S$ p.Arg528His and $SCN4A$ p.Arg672His). Despite the similar clinical manifestations, there were differences in the response to acetazolamide treatment between certain genotypes of $SCN4A$ mutations and $CACNA1S$ mutations. We identified p.Arg672His in the $SCN4A$ gene of patient 2 immediately after the first attack through a molecular genetic testing strategy. Molecular genetic diagnosis is important for genetic counseling and selecting preventive treatment.

• 근관절건강학회지
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• 제26권3호
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• pp.184-194
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• 2019

Purpose: There has been a considerable increase in the number of women giving birth at advanced age. The genetic screening of such women is highly desirable. Clinical nurses, however, are not adequately trained to assist such clients. This study aims at identifying the educational needs of nurses in order for them to provide better care and treatment for such women. Methods: 206 South Korean clinical nurses participated in this study. Study variables were measured by nurses' attitudes toward terminating pregnancy (ATP), knowledge of prenatal genetic screening and diagnosis (K-PGSD), and information needs for prenatal genetic screening and diagnosis (I-PGSD). The statistical analysis included T-test, analysis of variance and Pearson's Correlation Coefficient. Results: Mean scores were 34.57±5.73 for ATP, 16.44±3.04 for K-PGSD, and 78.81±10.95 for I-PGSD. The findings demonstrate that nurses have high information needs (I-PGSD) to take better care of women who have positive results from their amniocentesis tests. Conclusion: Information needs among clinical nurses are not currently being met. Education for nurses must include training in counseling to encourage patients' autonomous decision-making regarding their pregnancies.

• 한국간호교육학회지
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• 제13권1호
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• pp.105-113
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• 2007

Background: Cancer genetics have gained public attention dramatically. Everyday physicians and nurses use the knowledge of cancer genetics in their practices. Despite the importance of the knowledge of the health care providers on cancer genetics, there is a paucity of literature investigating the levels of knowledge about cancer genetics among health care providers. Purpose: This study aimed to describe the Korean physicians' current knowledge level about hereditary breast and ovarian cancer (HBOC). Method: This nation-wide survey used a 15-item questionnaire which is modified from the Breast Cancer Genetic Counseling Knowledge Questionnaire originally developed by Erblich et al.(2005). One hundred and forty-four physicians participated in this survey from October 1, 2006 to March 31, 2007. Result: Physicians' knowledge level about hereditary breast cancer was 11.94 (S.D=2.46). Physicians with short-term careers (less than one year), the position of Intern, or who were involved in breast or ovarian cancer care demonstrated the highest knowledge about HBOC. Conclusion: Genetic courses in medical education seemed to contribute to the high level of physicians' genetic knowledge. Also, nursing discipline needs to incorporate genetics or genetic counseling courses into the formal educational curriculum in order to deliver up to date cancer care services which are sensitive to ever-changing cancer genetic information.

• Journal of Chest Surgery
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• 제18권3호
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• pp.423-427
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• 1985

The Poland`s syndrome is very rare anomaly, which consists of congenital unilateral absence of the sternocostal part of the pectoralis major muscle, with ipsilateral hand deformities. The clinical features are variable but all patients have absence of at least the sternal head of the pectoralis major muscle. The syndrome is not hereditary and is of unknown origin. Early recognition of Poland`s syndrome may give the provision of psychologic and genetic counseling for anxious parents. We have encountered two patients with this entity, and one of them underwent successful surgical correction.

• Journal of Genetic Medicine
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• 제11권1호
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• pp.16-21
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• 2014

A 31-year-old woman, who was pregnant with twins, underwent chorionic villus sampling because of increased nuchal translucency in one of the fetuses. Cytogenetic analysis showed a normal karyotype in the fetus with increased nuchal translucency. However, the other fetus, with normal nuchal translucency, had a derivative X chromosome (der(X)). For further analysis, fluorescence in situ hybridization (FISH) and additional molecular studies including fragile X analysis were performed. FISH analysis confirmed that the Y chromosome was the origin of extra segment of the der(X). The X-chromosome breakpoint was determined to be at Xq27 by FMR1 CGG repeat analysis, and the Y-chromosome breakpoint was determined to be at Yq11.23 by the Y chromosome microdeletion study. To predict the fetal outcome, the X-inactivation pattern was examined, and it revealed non-random X inactivation of the der(X). To the best of our knowledge, the identification of an unbalanced Xq;Yq translocation at prenatal diagnosis has never been reported. This study was performed to identify precise breakpoints and the X-inactivation pattern as well as to provide the parents with appropriate genetic counseling.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제20권2호
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• pp.114-123
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• 2017

Purpose: The goal of this study was the early diagnosis of ABCB11 spectrum liver disorders, especially those focused on benign recurrent intrahepatic cholestasis and progressive familial intrahepatic cholestasis. Methods: Fifty patients presenting neonatal cholestasis were evaluated to identify underlying etiologies. Genetic analysis was performed on patients suspected to have syndromic diseases or ABCB11 spectrum liver disorders. Two families with proven ABCB11 spectrum liver disorders were subjected to genetic analyses to confirm the diagnosis and were provided genetic counseling. Whole exome sequencing and Sanger sequencing were performed on the patients and the family members. Results: Idiopathic or viral hepatitis was diagnosed in 34%, metabolic disease in 20%, total parenteral nutrition induced cholestasis in 16%, extrahepatic biliary atresia in 14%, genetic disease in 10%, neonatal lupus in 2%, congenital syphilis in 2%, and choledochal cyst in 2% of the patients. The patient with progressive familial intrahepatic cholestasis had novel heterozygous mutations of ABCB11 c.11C>G (p.Ser4*) and c.1543A>G (p.Asn515Asp). The patient with benign recurrent intrahepatic cholestasis had homozygous mutations of ABCB11 c.1331T>C (p.Val444Ala) and heterozygous, c.3084A>G (p.Ala1028Ala). Genetic confirmation of ABCB11 spectrum liver disorder led to early liver transplantation in the progressive familial intrahepatic cholestasis patient. In addition, the atypically severe benign recurrent intrahepatic cholestasis patient was able to avoid unnecessary liver transplantation after genetic analysis. Conclusion: ABCB11 spectrum liver disorders can be clinically indistinguishable as they share similar characteristics related to acute episodes. A comprehensive genetic analysis will facilitate optimal diagnosis and treatment.