• 한국인터넷방송통신학회논문지
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• 제19권6호
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• pp.145-152
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• 2019

파킨슨병은 3대 노인성 질환 중 하나로 인구 고령화에 따라 전 세계적으로 발병률이 증가하고 있으며, 질병이 진행될수록 시간적·경제적인 비용이 높아지기 때문에 병의 진행정도를 파악하는 것과 초기에 진단해내는 것이 매우 중요하다. 본 논문에서는 스마트폰을 이용하여 파킨슨병을 조기 진단(Pre-Screening)할 수 있는 방법을 제안하고자 하였다. 개발한 어플리케이션의 콘텐츠들은 탭핑(Tapping), 떨림(Tremor), 나선형 그리기(Spiral Drawing), 보행(Gait)으로 구성되어 있으며, 통합형 파킨슨병 평가척도(Unified Parkinson's Disease Rating Scale)의 Part III(운동성 검사)를 기반으로 하였다. 이를 활용하여 파킨슨병의 운동성 증상으로 알려져 있는 서동증(Bradykinesia), 진전(Tremor), 자세 불안정(Postural Instability)에 대한 정량적인 진단이 가능하며, 증상의 진행 정도에 대한 모니터링이 가능하다. 이러한 방법은 파킨슨병 진단 및 치료에 유용하게 사용될 수 있을 것으로 기대된다.

• 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.

• Journal of mucopolysaccharidosis and rare diseases
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• 제4권1호
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• pp.14-20
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• 2018

Mucopolysaccharidoses (MPSs) are a group of rare inherited metabolic disorders caused by specific lysosomal enzyme deficiencies leading to the sequential degradation of glycosaminoglycans, causing substrate accumulation in various cells and tissues and progressive multiple organ dysfunction. The rare disease medical care team at Mackay Memorial Hospital in Taiwan has been dedicated to the study of MPSs for more than 20 years. Since 1999, more than 50 academic papers focusing on MPSs have been published in international medical journals. Topics of research include the following items regarding MPSs: incidence, natural history, clinical manifestations, gene mutation characteristics, cardiac function, bone mineral density, sleep studies, pulmonary function tests, hearing assessments, percutaneous endoscopic gastrostomy, anesthetic experience, imaging analysis, special biochemical tests, laboratory diagnostics, global expert consensus conferences, prenatal diagnosis, new drug clinical trials, newborn screening, and treatment outcomes. Of these published academic research papers, more than half were cross-domain, cross-industry, and international studies with results in cooperation with experts from European, American and other Asian countries. A cross-specialty collaboration platform was established based on high-risk population screening criteria with the acronym "BECARE" (Bone and joints, Eyes, Cardiac and central nervous system, Abdomen and appearance, Respiratory system, and Ear, nose, and throat involvement). Through this platform, orthopedic surgeons, rheumatologists, ophthalmologists, cardiologists, rehabilitation physicians, gastroenterologists, otorhinolaryngologists, and medical geneticists have been educated with regards to awareness of suspected cases of MPSs patients to allow for a further confirmative diagnosis of MPSs. Because of the progressive nature of the disease, an early diagnosis and early multidisciplinary therapeutic interventions including surgery, rehabilitation programs, symptom-based treatments, hematopoietic stem cell transplantation, and enzyme replacement therapy, are very important.

• Nutrition Research and Practice
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• 제13권3호
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• pp.247-255
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• 2019

BACKGROUND/OBJECTIVES: Accurate, early identification of acutely malnourished children has the potential to reduce related child morbidity and mortality. The current World Health Organisation (WHO) guidelines classify non-oedematous acute malnutrition among children under five using Mid-Upper Arm Circumference (MUAC) or Weight-for-Height Z-score (WHZ). However, there is ongoing debate regarding the use of current MUAC cut-offs. This study investigates the diagnostic performance of MUAC to identify children aged 6-24 months with global (GAM) or severe acute malnutrition (SAM). SUBJECTS/METHODS: Cross-sectional, secondary data from a community sample of children aged 6-24 months in Niger were used for this study. Children with complete weight, height and MUAC data and without clinical oedema were included. Using WHO guidelines for GAM (WHZ < -2, MUAC < 12.5 cm) and SAM (WHZ < -3, MUAC < 11.5 cm), the sensitivity (Se), specificity (Sp), predictive values, Youden Index and Receiver Operating Characteristic (ROC) curves were calculated for MUAC when compared with the WHZ reference criterion. RESULTS: Of 1161 children, 23.3% were diagnosed with GAM using WHZ, and 4.4% with SAM. Using current WHO cut-offs, the Se of MUAC to identify GAM was greater than for SAM (79 vs. 57%), yet the Sp was lower (84 vs. 97%). From inspection of the ROC curve and Youden Index, Se and Sp were maximised for MUAC < 12.5 cm to identify GAM (Se 79%, Sp 84%), and MUAC < 12.0 cm to identify SAM (Se 88%, Sp 81%). CONCLUSIONS: The current MUAC cut-off to identify GAM should continue to be used, but when screening for SAM, a higher cut-off could improve case identification. Community screening for SAM could use MUAC < 12.0 cm followed by appropriate treatment based on either MUAC < 11.5 cm or WHZ < -3, as in current practice. While the practicalities of implementation must be considered, the higher SAM MUAC cut-off would maximise early case-finding of high-risk acutely malnourished children.

• Asian Pacific Journal of Cancer Prevention
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• 제14권10호
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• pp.5867-5870
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• 2013

Background: Cervical cancer is the second most common cancer among Malaysian women with an ASR of 17.9 and a mortality rate of 5.6 per 100,000 population in 2008 (GLOBOCAN, 2008). The 5 year prevalence was estimated to be 14.5 per 100,000 population. As the second most common cancer affecting productive females, cervical cancer imposes an impact to the socioeconomic aspect of the country. However, the poor uptake of cervical cancer screening is a major problem in detecting early pre-cancerous lesions and thus, delay in initiating treatment for cervical cancer. Realizing the urgency to increase the uptake of PAP smear, besides enhancing the promotion of PAP smear screening for women above 35 years old, the call-recall system for pap smear screening had been piloted in one of the suburban districts which aimed to improve regular participation of women for cervical and breast cancer screening. This is of public health importance as identifying the best feasible option to increase patient's respond to participate in the screening program effectively in our setting will be helpful in implementing an organized regular population based screening program tailored to our setting. The pilot program of cervical cancer screening in Klang was an opportunity to assess different options in recalling patients for a repeat pap smear to increase their participation and adherence to the program. Methods and Results: This was a population based randomized control trial. Women aged 20-65 years in the population that matched the inclusion and exclusion criteria were re-called for a repeat smear. There are four different intervention groups; letter, registered letters, short messages services (SMS) and phone calls where 250 subjects were recruited into each group. Samples were generated randomly from the same population in Klang into four different groups. The first group received a recall letter for a repeat smear similar to the one that has been given during the first invitation. The intervention groups were either be given a registered letter, an SMS or a phone call to re-call them. The socio-demographic data of the patients who came for uptake were collected for further analysis. All the groups were followed up after 8 weeks to assess their compliance to the recall. Conclusions: The study will provide recommendations about the most effective methods for recall in a population based pap smear screening program on two outcomes: i) patients response; ii) uptake for repeat pap smear.

• Epidemiology and Health
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• 제39권
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• pp.36.1-36.8
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• 2017

OBJECTIVES: To investigate the screening rates for gastric, breast, and cervical cancer in people with diabetes compared with people without diabetes. METHODS: Data from the Korea National Health and Nutrition Examination Survey (2007-2009) were used. Cancer-free men who were 40 years old and over and cancer-free women who were 30 years old and over were included. The lifetime screening rate and regular screening rate were compared in people with and without diabetes. RESULTS: Fewer people with diabetes than people without diabetes had ever received cancer screening (53.5 vs. 59.5%, p<0.001 for gastric cancer; 60.5 vs. 71.5%, p<0.001 for breast cancer; and 49.1 vs. 59.6%, p<0.001 for cervical cancer). Fewer people with diabetes than people without diabetes received the recommended screenings for gastric cancer (38.9 vs. 42.9%, p<0.001), breast cancer (38.8 vs. 44.6%, p<0.001), and cervical cancer (35.1 vs. 51.2%, p<0.001). In subgroup analyses according to socioeconomic factors, the lifetime and recommended screening rates were lower in the diabetic population in most socioeconomic subgroups. In the multivariate analysis adjusted for socioeconomic factors, people with diabetes showed lower lifetime screening rates for gastric and cervical cancer (odds ratio [OR], 0.8; 95% confidence interval [CI], 0.7 to 0.9 and OR, 0.7; 95% CI, 0.6 to 0.9), and lower regular screening rates for breast and cervical cancer (OR, 0.7; 95% CI, 0.6 to 0.9 and OR, 0.7; 95% CI, 0.5 to 0.9). CONCLUSIONS: The cancer screening rate in people with diabetes was lower than in people without diabetes. Considering the higher cancer risk in people with diabetes, efforts to increase the screening rate in this high-risk population should be implemented.

• Tuberculosis and Respiratory Diseases
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• 제86권4호
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• pp.284-293
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• 2023

Background: Attitudes towards smoking, lung cancer screening, and perceived risk of lung cancer have not been widely studied in Malaysia. The primary objective of this study was to describe the factors affecting the willingness of high-risk current smokers and ex-smokers to undergo low-dose computed tomography (LDCT) screening for lung cancer. Methods: A prospective, cross-sectional questionnaire study was conducted in current smokers or ex-smokers aged between 55 and 80 years at three hospitals in Kota Kinabalu, Sabah, Malaysia. The questionnaire recorded the following parameters: perceived lung cancer risk; Prostate Lung Colon Ovarian Cancer 2012 risk prediction model excluding race and ethnicity predictor (PLCO_m2012norace); demographic characteristics; psychosocial characteristics; and attitudes towards lung cancer and lung cancer screening. Results: A vast majority of the 95 respondents (94.7%) indicated their willingness to undergo screening. Stigma of lung cancer, low levels of knowledge about lung cancer symptoms, concerns about financial constraints, and a preference for traditional medication were still prevalent among the respondents, and they may represent potential barriers to lung cancer screening uptake. A desire to have an early diagnosis (odds ratio [OR], 11.33; 95% confidence interval [CI], 1.53 to 84.05; p=0.02), perceived time constraints (OR, 3.94; 95% CI, 1.32 to 11.73; p=0.01), and proximity of LDCT screening facilities (OR, 14.33; 95% CI, 1.84 to 111.4; p=0.01) had significantly higher odds of willingness to undergo screening. Conclusion: Although high-risk current smokers and ex-smokers are likely to undergo screening for lung cancer, several psychosocial barriers persist. The results of this study may guide the policymakers and clinicians regarding the need to improve lung cancer awareness in our population.

• Clinical and Experimental Pediatrics
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• 제48권4호
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• pp.369-375
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• 2005

목 적 : 페닐케톤뇨증과 선천성 갑상샘 저하증과 같은 유전성 대사 질환과 내분비 질환은 조기에 발견해서 치료하면 완치가 가능하다. 그러나 치료가 늦어지면 정신지체라는 심각한 부작용을 남긴다. 이 때문에 우리나라에서는 태어나는 모든 신생아들을 대상으로 페닐케톤뇨증과 선천성 갑상샘 저하증에 대한 집단 선별 검사를 시행하고 있다. 본 연구에서 저자들은 페닐케톤뇨증과 선천성 갑상샘 저하증에 대한 집단 선별 검사를 시행할 때와 그렇지 않을 때의 비용을 비교하여 경제성 여부를 알아보았다. 방 법 : 1991년 1월부터 2003년 12월까지 페닐케톤뇨증과 선천성 갑상샘 저하증에 대한 집단 선별 검사를 받은 2,908,231명의 신생아들을 대상으로 페닐케톤뇨증과 선천성 갑상샘 저하증의 발병 빈도를 구했다. 그리고 페닐케톤뇨증과 선천성 갑상샘 저하증에 대한 집단 선별 검사를 시행했을 때의 검사 비용과 집단 선별 검사에서 페닐케톤뇨증과 선천성 갑상샘 저하증으로 진단받은 환아들의 치료에 필요한 비용을 합쳐서 집단 선별 검사의 비용이라고 정했다. 그리고 집단 선별 검사를 시행하지 않아서 발생한 정신지체아의 양육비용과 이들로부터 얻을 수 없게된 노동력을 합쳐서 집단 선별 검사를 시행하지 않을 때의 비용이라고 보았다. 이 두 비용을 서로 비교하여 페닐케톤뇨증과 선천성 갑상샘 저하증에 대한 집단 선별 검사의 경제성 여부를 알아보았다. 결 과 : 1) 페닐케톤뇨증은 43,406명 중 한 명 그리고 선천성 갑상샘 저하증은 5,067명 중 한 명에서 발생했다. 2) 집단 선별 검사를 시행하는 것이 시행하지 않는 것에 비해서 페닐케톤뇨증에서는 27억 2천 8백만원이 이득이며, 선천성 갑상샘 저하증에서는 267억 1천 6백만원이 이득이다. 이 두 질환을 합치면 페닐케톤뇨증과 선천성 갑상샘 저하증에 대한 선별 검사를 시행하는 것이 시행하지 않는 것에 비해서 국가적으로 연간 294억 4천 4백만원의 이득을 가져다 준다. 3) 집단 선별 검사를 시행할 때와 시행하지 않을 때 들어가는 비용을 비교하면, 페닐케톤뇨증에서는 1 : 1.77로 그리고 선천성 갑상샘 저하증에서는 1 : 11.11로 집단 선별 검사를 시행하는 것이 시행하지 않는 것에 비해 비용이 절감된다. 그리고 이 두 질환을 합쳤을 때, 집단 선별 검사를 시행할 때와 그렇지 않을 때 들어가는 비용의 비율은 1 : 5.74로 집단 선별 검사를 시행하는것이 이득이다. 결 론 : 페닐케톤뇨증과 선천성 갑상샘 저하증은 조기에 발견해서 치료하면 완치가 가능하다. 그러나 집단 선별 검사를 시행하지 않아서 치료 시기를 놓치면 정신지체 같은 심각한 후유증을 남긴다. 삶의 질에 있어서 정상아와 정신지체아 사이에는 돈으로 환산할 수 없는 큰 차이가 있다. 그러나 금전적으로 환산할 수 없는 이런 비용들을 고려하지 않는다고 하더라도 현재 시행하고 있는 페닐케톤뇨증과 선천성 갑상샘 저하증에 대한 집단 선별 검사는 경제성이 있으며 국가적으로 엄청난 이득을 가져다준다.

• Journal of Preventive Medicine and Public Health
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• 제33권1호
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• pp.25-30
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• 2000

Objectives : This study was performed to evaluate the effect of stage shift according to screening of stomach cancer. Methods : Total 840 cases of stomach cancer patients, undergone a surgical operation at Department of Surgery, Kangnam St. Mary's Hospital, The Catholic University of Korea from Jan. 1989 to Dec. 1995, were reviewed by stomach cancer working sheet, and classified as asymptomatic and symptomatic group based on the presence of subjective symptoms on their hospital visit. Their histopathologic stages were analysed. We compared the histopathologic stages of asymptomatic stomach cancer patients with those of symptomatic patients. Results : From the total of 840 patients, asymptomatic patients group comprised 28 cases (3.3%). Proportion of asymptomatic patients tended to increase from 1.9% in 1990, 0.9% in 1991 to 8.6% in 1995. Proportions of asymptomatic patients by stages were 78.6% (stage I), 3.6% (stage III), 17.9% (stage IV) and that of symptomatic patients by stages were 38.2% (stage I), 16.5% (stage II), 24.8% (stage III), 19.1% (stage IV). In less than 40 years old, 50.5% of symptomatic patients were diagnosed as stage I. With increment of ages, proportions of stage I were makedly decreased. It was significantly different between proportion of early gastric cancer in asymptomatic patients (60.1%) and that in symptomatic patients (25.0%). Conclusions : We confirmed stage shift according to screening of stomach cancer. And proportion of early gastric cancer in asymptomatic patients was higher than that in symptomatic patients. This results suggest that screening of gastric cancer be important to reduce mortality and if be indirectly started from 40 years old.

• 대한유전성대사질환학회지
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• 제3권1호
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• pp.86-93
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• 2003

Background : The SCL began screening of newborns and high risk group blood spots with tandem mass spectrometry (MS/MS) in April 2001. Our goal was to determine approximate prevalence of metabolic disorders, optimization of decision criteria for estimation of preventive effect with early diagnosis. This report describes the ongoing effort to identify more than 30 metabolic disorders by MS/MS in South Korea. Methods : Blood spot was collected from day 2 to 30 (mostly from day 2 to 10) after birth for newborn. Blood spot of high risk group was from the pediatric patients in NICU, developmental delay, mental retardation, strong family history of metabolic disorders. One punch (3.2 mm ID) of dried blood spots was extracted with $150{\mu}L$ of methanol containing isotopically labelled amino acids (AA) and acylcarnitines (AC) internal standards. Butanolic HCl was added and incubated at $65^{\circ}C$ for 15 min. The butylated extract was introduced into the inlet of MS/MS. Neutral loss of m/z 102 and parent ion mode of m/z 85 were set for the analyses of AA and AC, respectively. Diagnosis was confirmed by repeating acylcarnitine profile, urine organic acid and plasma amino acid analysis, direct enzyme assay, or molecular testing. Results : Approximately 31,000 neonates and children were screened and the estimated prevalence (newborn/high risk group), sensitivity, specificity and recall rate amounted to 1:2384/1:2066, 96.55%, 99.98%, and 0.73%, respectively. Confirmed 28 (0.09%) multiple metabolic disorders (newborn/high risk) were as follows; 13 amino acid disorders [classical PKU (3/4), BH4 deficient-hyperphenylalaninemia (0/1), Citrullinemia (1/0), Homocystinuria (0/2), Hypermethioninemia (0/1), Tyrosinemia (1/0)], 8 organic acidurias [Propionic aciduria (2/1), Methylmalonic aciduria (0/1), Isovaleric aciduria (1/1), 3-methylcrotonylglycineuria (1/0), Glutaric aciduria type1 (1/0)], 7 fatty acid oxidation disorders [LCHAD def. (2/2), Mitochondrial TFP def. (0/1), VLCAD def. (1/0), LC3KT def. (0/1). Conclnsion : The relatively normal development of 10 patients with metabolic disorders among newborns (except for the expired) demonstrates the usefulness of newborn screening by MS/MS for early diagnosis and medical intervention. However, close coordination between the MS/MS screening laboratory and the metabolic clinic/biochmical geneticists is needed to determine proper decision of screening parameters, confirmation diagnosis, follow-up scheme and additional tests.