• Genes and Genomics
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• 제40권12호
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• pp.1339-1349
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• 2018

Cerebral palsy (CP) is a non-progressive neurological disease, of which susceptibility is linked to genetic and environmental risk factors. More and more studies have shown that CP might be caused by multiple genetic factors, similar to other neurodevelopmental disorders. Due to the high genetic heterogeneity of CP, we focused on investigating related molecular pathways. Ten children with CP were collected for whole-exome sequencing by next-generation sequencing (NGS) technology. Customized processes were used to identify potential pathogenic pathways and variants. Three pathways (axon guidance, transmission across chemical synapses, protein-protein interactions at synapses) with twenty-three genes were identified to be highly correlated with CP. This study showed that the three pathways associated with CP might be the molecular mechanism of pathogenesis. These findings could provide useful clues for developing pathway-based pharmacotherapies. Further studies are required to confirm potential roles for these pathways in the pathogenesis of CP.

• 대한유전성대사질환학회지
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• 제16권2호
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• pp.62-69
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• 2016

Newborn screening of some urea cycle disorders has little benefits because of early severe symptoms before the result, low sensitivity (especially hypocitrullinemia) and poor prognosis. But in case of citrullinemia, citrin deficiency and argininosuccinic aciduria diagnosed as elevated citrulline, newborn screening is helpful for early diagnosis and treatment before the symptom. Distinction between the clinical forms of these diseases is based on clinical findings and biochemical results, however, they may not be clearcut. Treatment is different from each other, so exact diagnosis is essential. Here, the diagnostic algorithm for elevated citrulline after tandem mass screening has been proposed. Minimizing total process time from sampling to report of the results is important in Korea for diagnosis and treatment of these disorders.

• Journal of Digestive Cancer Research
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• 제2권1호
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• pp.5-7
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• 2014

Screening and early diagnosis of cancer is important. Screening lead to detect disease earlier, and earlier treatment of disease cause to yield a better outcome than treatment at the onset of symptoms. Some studies suggest that gastric cancer screening may be associated with a reduced risk of mortality from gastric cancer, although there are no definitive data from large controlled trials. Regular colorectal cancer screening or testing is one of the most powerful weapons for preventing colorectal cancer, because some polyps, or growths can be found and removed before they have the chance to turn into cancer. Screening can also result in finding colorectal cancer early, when it is highly curable. In conclusion, to increase utilization of screening is important to decrease gastric and colorectal cancer morbidity and mortality.

• 대한유전성대사질환학회지
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• 제5권1호
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• pp.108-115
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• 2005

Inherited metabolic diseases (IMD) comprise a large class of genetic diseases involving disorders of metabolism. The majorities are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. Because of the multiplicity of conditions, many different diagnostic tests are used for screening of IMD. Molecular genetic diagnosis is the detection of pathogenic mutations in DNA and/or RNA samples and is becoming a much more common practice in medicine today. The purpose of molecular genetic testing in IMD includes diagnostic testing, pre-symptomatic testing, carrier screening, prenatal diagnosis, preimplantation testing, and population screening. However, because of the complexity, difficulty in interpreting the result, and the ethical considerations, an understanding of technical, conceptual, and practical aspects of molecular genetic diagnosis is mandatory.

• International Journal of Contents
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• 제5권1호
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• pp.33-36
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• 2009

Since the diagnosis of malignancy and benign of thyroid gland diseases is difficult only by using ultrasonogram opinions, the combination of fine needle aspiration (FNA) has been generalized trend for precise pathological diagnosis. Therefore, the current study aimed to know about its availability. The study subjected 500 patients who received the FNA along with the ultrasonogram screening for thyroid gland from October, 2007 to April, 2008. As the equipments for the study, Philips HDI-3500 and Philips UITRAMARKer-9 (UM-9) were used to conduct the comparative analysis of pathological results that were obtained through the inspection of ultrasonogram screening and through ultrasonogram guided FNA. Among the 464 patients who were found to be benign from the ultrasonogram screening inspection, II cases of the FNA diagnosis results judged to be malignancy, and 13 cases of the FNA diagnosis resulted to be benign among 36 patients who were diagnosed to be malignancy. The cases observed as solid from the opinions of ultrasonogram screening were often found to be malignancy, and most of the malignancy results were observed to show the hypoechoic pattern. Among the patients diagnosed with malignancy from the diagnosis of FNA, the 32 patients were found to have the papillary carcinoma, and the benign type was observed to be goiter and hyperplasia in 263 patients, which took up 52.6%. The ultrasonogram screening test that is performed for the purpose of diagnosing thyroid gland diseases, it is distinctively an useful inspection to diagnosis the presence, size and shape of nodules. However, the results of performing of FNA for those of nodules which were observed to be benign from the ultrasonogram were often came up with malignancy and there were cases that the nodules diagnosed with malignancy were diagnosed as benign from the FNA diagnosis.

• Journal of Digestive Cancer Research
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• 제4권2호
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• pp.107-112
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• 2016

Gastric cancer is the fifth most common malignancy in the world and still remains the third and fifth leading cause of cancer death in male and female, respectively. In terms of the cancer survival, the survival of gastric cancer is low in the West with showed 5-year survival rates of 10-30%, whereas the survival rates in Asia is more than 50%. The reason of the higher survival rate from gastric cancer in Asia partially related with the availability of gastric cancer screening programs, however, the population-based screening for gastric cancer has been conducted just in Korea and Japan. Therefore, more effective method for detecting the gastric cancer is needed for countries without a population-based gastric cancer screening. Endoscopy is the most effective method for diagnosis of gastric cancer however, it requires a large infrastructure including a large number of endoscopic equipment and well-trained endoscopists. To overcome these problems, several noninvasive methods (such as serologic markers, biomarkers, cancer autoantibodies, and exhaled breath analysis) for diagnosis of gastric cancer screening are suggested. This review addresses the conventional methods and the emerging methods for gastric cancer screening.

• 보건의료산업학회지
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• 제5권4호
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• pp.1-13
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• 2011

The purpose of this study is to analyze the medical care utilization behavior of patients to whom treatment (surgery) is recommended after they are diagnosed with abnormal findings on health screening and factors affecting the selection of the medical institute for treatment. The data was collected from 291 patients who need treatment or surgery, according to the abnormal findings on the additional examination such as cardiac CT, brain MRI, Gastroscopy and Colonoscopy since four diseases are suspected among of 2,752 people who receive health screening. The results are as follows. First, the most common disease of patients who have abnormal findings by the diagnosis through the results of first testing is colon disease based on through the additional examination. The most common disease of patients who will get treatment (surgery) based on final diagnosis by a doctor who determines the result of health screening on the basis of diagnosis from the first testing is cardiovascular disease. Second, in terms of diseases, patients with cardiovascular disease select the medical institute where they get the health screenings as a place for treatment. Patients with cerebrovascular disease select another medical institute for treatment. Finally, the affective factors of selectivity treatment facility on health screening satisfaction were human, facility, health screening and revisit factors.

• 한국의학물리학회:학술대회논문집
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• 한국의학물리학회 2002년도 Proceedings
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• pp.13-16
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• 2002

Recent topics on quality assurance (QA) of X-ray diagnosis in Japan were reported in this presentation. These were related to mass screening mammography (MMG), lung screening CT (LSCT), skin injury caused by interventional radiology (IVR) and traceable system of dosimeters for x-ray diagnosis. In these successful stories, the author would like to stress the cooperation of all the medical am: clinical staff including medical doctors, radiological technologists, medical physicists, manufacturers of medical devices and others.

• 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.

• 한국콘텐츠학회논문지
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• 제15권3호
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• pp.252-264
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• 2015

본 연구의 목적은 블로그에 나타난 임신 여성의 산전 기형아 검사 및 양수검사 관련 교육요구를 파악하기 위하여 총 7개의 국내 인터넷 블로그를 분석하였다. 본 연구는 두 단계로 이루어졌다. 1 단계는 2011년 10월 31일까지 6년간 7개 블로그 중 6개 블로그에 게시된 내용 중 산전 기형아 검사 389건을 통하여 연구의 분석틀을 마련하였다. 2 단계에서는 '맘스홀릭 베이비'에 게시된 산전 기형아 검사에 관한 질문 100건, 양수 검사에 관한 질문 200건과 댓글 1,665건을 2011년 12월 텍스트화하고 산전 기형아 검사와 양수검사의 건수, 검사 이유 및 검사와 관련된 문제점을 분석하였다. 그 결과, 임신부들은 산전 기형아 검사와 양수검사와 관련하여 검사의 용어, 목적 및 임신 주수에 따른 검사 지식이 부족하였고, 양수 검사를 권유 받은 임신부 중 56.5%가 불안과 두려움을 호소하였다. 양수검사에 관한 찬성과 반대 건수를 분석한 결과, 찬성 보다는 반대 건수가 더 많았고, 양수검사를 권유 받은 자 중 33.9%는 양수검사를 받지 않았다. 이상의 결과에서 보듯이 의료 기관 서비스 안에서 임신 여성과 가족들에게 임신 주수에 따른 산전 기형아 검사에 관한 교육 및 지지가 강화될 필요가 있다. 이를 위하여 산전 클리닉 외래의 상담 및 교육 서비스 기능을 강화하고, 유전 상담 전문가를 추가로 배치할 필요가 있으며 인터넷 보급률 증가와 현대 임신 여성이 선호하는 커뮤니케이션 방식을 고려하여 온라인 건강 정보 사이트 운영 및 콘텐츠 개발에 관심을 기울일 필요가 있다. 또한 본 연구결과는 기형아 검사 후 낙태 허용범위 기준에 대한 논의 시 기초자료로 활용될 수 있을 것이다.