• Journal of Yeungnam Medical Science
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• v.14 no.2
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• pp.293-313
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• 1997

이상에서 고찰하였듯이 현재까지는 어느 하나로 결정할 만한 선별 검사 방법이 없지만, 그 중에서 경질 초음파 검사와 color-flow Doppler 초음파 검사가 시행하기가 쉬우면서 민감하고 비교적 특이도가 높은 방법이라고 할 수 있다. 그러나 역학적인 면에서 조기 진단 혹은 선별 검사의 효율은 검사의 시행과 그에 따른 처치에 의해 사망률이 실제로 감소되었을 때 유의하다고 할 수 있으며, 이런 면에서 아직까지 난소암으로 인한 사망률을 감소시킬 만한 결정적인 선별 검사 방법은 알려져 있지 않다. 사망률이 1/3 감소되었음을 확인하는데 100,000명의 선별 검사자와 100,000명의 대조군이 필요하므로 앞으로 보다 많은 인구를 대상으로 한 역학적인 연구가 필요하다. 앞으로의 선별 검사에는 보다 특이도가 높은 종양 표지 물질의 개발, 초음파를 비롯한 진단 기기의 혁신적인 발달이 필요하며 이는 현재까지의 발전 상황으로 보아 실제로 가능할 것으로 생각된다. 이와 더불어 돌연변이를 일으킨 난소 상피 세포가 수 차례의 분열만 일으키더라도 그 유전자 산물을 검색해 낼 수 있고, 나아가서는 DNA 진단까지 가능한 분자 생물학적 혹은 세포 유전학전 진단 방법의 개발과 이용도 기대된다.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.111-118
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• 2008

Purpose: Neonatal screening tests are increasingly being used forearly diagnosis of inborn errors of metabolism (IEM) in the hope of avoiding the severe developmental delay, acute illness, and death that may result from these diseases. In this study, a cost-benefit analysis was performed on the neonatal screening of maple syrup urine disease, homocystinuria, galactosemia, and congenital adrenal hyperplasia in Korea. Materials and Methods: This study included 1,259,220 Korean newborns born between January 2005 to December 2007, who were screened for maple syrup urine disease, homocystinuria, galactosemia, and congenital adrenal hyperplasia. We calculated and compared the total costs in cases where these four screening tests were implemented, and those where they were not. Results: There were no benefits to screening for maple syrup urine disease or homocystinuria due to their low prevalence for these two tests, the costs exceeded the benefits at benefit:cost ratios of 0.5:1 and 0.6:1, respectively. In contrast, benefits far exceed costs at a ratio of 4.1:1 for galactosemia and 2.9:1 for congenital adrenal hyperplasia. The average benefit:cost ratio for all four tests was 2.0:1. Conclusion: Neonatal screening tests for maple syrup urine disease, homocystinuria, galactosemia, and congenital adrenal hyperplasia are financially viable.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.3
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• pp.101-109
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• 2015

Classic galactosemia (OMIM #230400) is an autosomal recessive inherited metaboic disorder caused by a deficiency of the galactose-1-phosphate uridyltransferase (GALT, EC2.7.7.12) due to mutations in the GALT gene. If untreated, classic galactosemia is a potentially lethal disease presenting with poor feeding, vomiting, jaundice, liver failure, increased bleeding tendency, and septicemia leading to death within a few days after birth. Since 2006, expansion of newborn screening has been enabled the early diagnosis and early intervention of classic galactosemia in Korea. However, newborn screening, followup testing for confirmatory diagnosis and intervention for galactosemia continue to present challenges. In Korea, the prevalence of the classic galactosemia is considered relatively low compared to that of western countries. And the genotype is also clearly different from those of other population. Therefore, our own guideline for confirmatory diagnosis and intervention is needed. Here, the diagnostic algorithm for galactosemia after positive newborn screening result in Korea has been proposed. Considering the low prevalence and different mutation spectrum in Koreans, the early mutation analysis of GALT gene could be a useful tool for the accurate diagnosis and making any treatment decision.

• Clinical and Experimental Pediatrics
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• v.45 no.6
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• pp.700-711
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• 2002

Purpose : Early identification and treatment of developmental disabilities is of considerable importance in the health care of children. Screening of development is aimed at identifying infants who may need more comprehensive evaluations. Methods : A new test, the Ewha Infant Development Screening Test(EDST) has been created to screen the development of infants, 0-4 years of age. EDST was constructed so that results can be calculated into developmental ages and developmental quotients. The test consists of three sectors, e.g. language, social-adaptive and motor, and of 158 test items. A total of 104 infants, aged from one month to four years, including healthy infants as well as 10 with chief complaints of developmental delay, who visited the pediatric clinic of Ewha Womans University Dongdaemun Hospital, from June, 25 to November 30, 2001, were given the Bayley Scale of Infant Development as a base test and EDST. Results : The result showed the appropriate cut-off of EDST was 90 with better sensitivity and specificity, compared to cut-offs of 85 or 80. Conclusion : Further study with a large number of infants in the future is needed to make EDST more reliable and accurate.

• Clinical and Experimental Pediatrics
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• v.48 no.4
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• pp.369-375
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• 2005

Purpose : Many inborn errors of metabolism can be completely cured with early detection and early treatment. This is why neonatal screening on inborn errors of metabolism is implemented worldwide. In this study, a cost-benefit analysis was performed on the neonatal screening of phenylketonuria and congenital hypothyroidism in Korea. Methods : This study included 2,908,231 neonates who took the neonatal screening on phenylketonuria and congenital hypothyroidism in Korea from January 1991 to December 2003. From those neonates, the incidence rates of phenylketonuria and congenital hypothyroidism were measured. Furthermore, based on 495,000 babies born in 2002, were calculated and compared the total costs in case when neonatal screening on phenylketonuria and congenital hypothyroidism is implemented, and when not. Results : If the neonatal screening on phenylketonuria and congenital hypothyroidism is implemented, benefits far exceed costs at a ratio of 1.77 : 1 in phenylketonuria, and 11.11 : 1 in congenital hypothyroidism. In terms of wons, the present neonatal screening on phenylketonuria and congenital hypothyroidism will gain us more than 29 billion wons every year. Conclusion : This study only concerns the monetary aspects of the neonatal screening. Therefore, the benefits of the neonatal screening is underestimated by ignoring precious but not measurable values such as quality of life. However, the present neonatal screening on phenylketonuria and congenital hypothyroidism is found to be beneficial and should continue for the good of the nation as well as that of the patients.

• Clinical and Experimental Pediatrics
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• v.51 no.6
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• pp.616-621
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• 2008

Purpose : This study was undertaken to identify factors that influence 17-OHP levels in preterm infants and to suggest a reasonable follow-up schedule of screening for congenital adrenal hyperplasia (CAH) in preterm infants. Methods : The 17-OHP concentrations in filter paper blood spots of 427 preterm infants were obtained. The effects of gestational age (GA), systemic diseases, and antenatal dexamethasone on screening and follow-up 17-OHP values were investigated. Results : The screening 17-OHP values were markedly variable (range: 0.1-143.3 ng/mL). The screening 17-OHP levels were negatively correlated with GA (r=-0.535, P<0.01). In infants with GA<32 weeks, the screening 17-OHP levels were significantly higher in sick infants or infant with hypotension than in healthy infants. The screening values of prenatal dexamethasone-treated infants had a tendency to be low. In infants with initial 17-OHP values ${\geq}20ng/mL$, the intervals until rescreening 17-OHP <10 ng/mL or serum 17-OHP <20 ng/mL were negatively correlated with GA (r=-0.541, P<0.01) and were prolonged in infants with bronchopulmonary dysplasia (P<0.01). None of the preterm infants were confirmatively diagnosed with CAH. Conclusion : The 17-OHP values of preterm infants were influenced by GA, prenatal dexamethasone, and postnatal diseases. Because the 17-OHP values of preterm infants were markedly variable, a follow-up schedule should be developed considering both 17-OHP values and clinical status.

• Journal of radiological science and technology
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• v.32 no.1
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• pp.69-78
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• 2009

The cardiovascular disease has been known as a common cause of death for a long time in the west. The eating habits of Asia, including Korea, have changed recently, so that this disease is also a problem in Asia now. Annual Report on the Cause of Death Statistics from 1996 to 2006 reported that the cardiovascular disease would become the number one cause of death in the next $5{\sim}10$ years. Therefore we realize that more accurate examination is required. The aim of this study was to investigate the accuracy of Calcium-scoring CT and the relationship between risk factor and quantitative scores of Calcium-scoring CT. Through this study we expect that the national public health will be improved. Seventy patients with chest pain were chosen at random. The patients were undergone both coronary CT antigraphy and Calcium - scoring CT at G hospital in Incheon from February 1 to June 30, 2008. The result of the Calcium-scoring CT showed its usefulness for Ischemic cardiovascular disease, with an accuracy similar to that of exercise/pharmacologic stress or ECG when it is difficult for a patient to exercise due to joint problems, aging or for other reasons.

• Clinical and Experimental Pediatrics
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• v.49 no.10
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• pp.1056-1060
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• 2006

Purpose : As hearing ability affects language and cognitive development, early detection and intervention of congenital hearing defects is very important. We analyzed the result of newborn hearing screening using automated auditory brainstem response and estimated the incidence of congenital hearing defects in newborn infants in Korea. Methods : Hearing screening tests were done on 7,218 newborn infants who were delivered at Cheil General Hospital from July 1, 2004 to June 30, 2005. The first screening test was done on the second day of life with automated auditory brainstem response(AABR) using $ALGO{\bigcirc}^{(3)}$ Newborn hearing screener($Natus^{(R)}$ Medical Incorporated, San Carlos, USA) with 35 dB sound level. The newborn infants who did not pass the initial screening test took the second screening AABR test before discharge from the nursery. Infants who did not pass these screenings at the nursery were followed up at the Department of Otorhinolaryngology, Samsung Seoul Hospital. Results : Total 7,218 infants(83.3 percent of total 8,664 live births of the Cheil General Hospital) were screened in the nursery, and 55 of them failed to pass the newborn screening. Among 55 infants who were referred, six were lost during follow-up, and 14 were confirmed as hearing impaired. Six of them(42.8 percent) do not have any risk factors for hearing impairment. We can estimate that the incidence of hearing defects is about 1.9-2.8 per 1,000 live births. Conclusion : Automated auditory brainstem response is an effective tool to screen the hearing of newborn infants. Congenital hearing loss is more frequent than metabolic diseases on which screening tests are available in the newborn period. About 40 percent of infants who have hearing defects do not have any risk factors for hearing impairment. Therefore, universal newborn hearing screening must be recommended to all neonates.

• Phonetics and Speech Sciences
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• v.16 no.1
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• pp.49-55
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• 2024

This study aims to develop a three-sentence speech screening test to evaluate speech development in 4-year-old children and provide standards for comparison with peers. Screening tests were conducted on 24 children each in the first and second halves of 4 years old. The screening test results showed a correlation of .7 with the existing speech disorder evaluation test results. We compared whether there was a difference between the two groups of 4-year-old in the phonological development indicators and error patterns obtained through the screening test. The developmental indicators of the children in the second half were high, but there were no statistically significant differences. The Korean Speech Sound Analysis Tool (KSAT) was used for all analyses, and the automatic analysis results and contents of the clinician's manual analysis were compared. The degree of agreement between the automatic and manual error pattern analyses was 93.63%. The significance of this study is that the standard of speech of a 4-year-old child of the speech screening test according to three sentences at the level of elicited sentences, and the applicability of the KSAT were reviewed in both clinical and research fields.

• Journal of Gastric Cancer
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• v.9 no.4
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• pp.167-171
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• 2009

Purpose: This study was done to determine the usefulness of serum pepsinogen (PG) levels as a screening method for gastric cancer, and to assess the relationships between serum PG and clinicopathologic factors of gastric adenocarcinoma. Materials and Methods: Serum PG concentrations were measured in 94 subjects who were classified into (a) a control group (50 subjects) without abnormal endoscopic finding on a health checkup, or (b) a gastric cancer group (44 subjects) who had surgery at Daegu Catholic University Hospital between Nov. 2008 and May 2009. Receiver operator characteristic curves were utilized to select the most suitable test. Using different cutoff points, sensitivity and specificity were calculated. We compared preoperative serum PG levels with several clinicopathologic findings for patients with gastric adenocarcinoma. Results: The Serum PG I：II ratio was the most useful as a screening test. The sensitivity and specificity of PG screening for gastric cancer were, respectively, 81.8% and 82%. The cut off point correlated with the type of intestinal cancer (Lauren classification; P=0.003), tumor stage (P=0.001), and gastric adenocarcinoma with peritumoral chronic atrophic gastritis (P=0.036). Conclusion: Serum PG levels were found to be a potentially useful screening test and to correlate with clinicopathologic factors in gastric cancer patients. But, in order to use serum PG found in a health checkup for gastric cancer as a clinical application a large scale study is recommended.