• 제목/요약/키워드: chronic disease/disability

검색결과 76건 처리시간 0.027초

Cerebrotendinous xanthomatosis in a 10-year-old male presenting with Achilles tendon xanthoma and mild intellectual disability: A case report

  • Yoon, Ji Hye;Kim, Ka Young;Lee, Sang-Yun;Kim, Soo Yeon;Lee, Young Ah;Ki, Chang-Seok;Song, Junghan;Shin, Choong Ho;Lee, Yun Jeong
    • Journal of Genetic Medicine
    • /
    • 제19권1호
    • /
    • pp.22-26
    • /
    • 2022
  • Cerebrotendinous xanthomatosis (CTX) is a rare genetic disease caused by a deficiency of enzymes for the synthesis of bile acid, resulting in the accumulation of cholestanol with reduced chenodeoxycholic acid (CDCA) production and causing various symptoms such as chronic diarrhea in infancy, juvenile cataracts in childhood, tendon xanthomas in adolescence and young adulthood, and progressive neurologic dysfunction in adulthood. Because oral CDCA replacement therapy can effectively prevent disease progression, early diagnosis and treatment are critical in CTX. This study reports the case of CTX in a 10-year-old male who presented with Achilles tendon xanthoma and mild intellectual disability. Biochemical testing showed normal cholesterol and sitosterol levels but elevated cholestanol levels. Genetic testing showed compound heterozygous variants of CYP27A1, c.379C>T (p.Arg127Trp), and c.1214G>A (p.Arg405Gln), which confirmed the diagnosis of CTX. The patient had neither cataracts nor other focal neurologic deficits and showed no abnormalities on brain imaging. The patient received oral CDCA replacement therapy without any adverse effects; thereafter, the cholestanol level decreased and no disease progression was noted. The diagnostic possibility of CTX should be considered in patients with tendon xanthoma and normolipidemic conditions to prevent neurological deterioration.

만성폐질환자의 폐기능손상 및 장애 평가에 있어서 호흡곤란정도의 유용성 (The Usefulness of Dyspnea Rating in Evaluation for Pulmonary Impairment/Disability in Patients with Chronic Pulmonary Disease)

  • 박재민;이준구;김영삼;장윤수;안강현;조현명;김세규;장준;김성규;이원영
    • Tuberculosis and Respiratory Diseases
    • /
    • 제46권2호
    • /
    • pp.204-214
    • /
    • 1999
  • 연구배경: 만성폐질환자가 일상생활에서 느끼는 호흡곤란정도, 안정상태에서 시행된 폐기능검사 및 심폐운동검사사이에 어떤 관계가 있는지, 안정시 폐기능검사와 심폐운동검사가 호흡곤란의 정도를 잘 반영하는지 등을 연구하고자 만성폐질환자에서 기초호흡곤란지수, 안정시 폐기능검사 및 심폐운동능력을 조사하여 다음과 같은 결과를 얻었다. 연구방법: 최근 2개월내에 악화되지 않은 만성폐질환자 50명을, 기존의 안정시 폐기능검사 및 증상 제한적 심폐운동검사결과를 이용하는 폐기능손상/장애 평가기준과 baseline dyspnea index의 초점점수에 따라 저자들이 임의로 정한 기준으로 비중증군과 중증군으로 분류후 각 군간의 안정시 폐기능검사, 심폐운동검사, 초점점수를 비교하였으며, 각 기준의 상호 민감도 및 특이도를 비교하였다. 연구결과: 안정시 폐기능검사치상 중증군에서 max WR(%), $VO_2$max, $VO_2$max(%) 및 초점 점수가 유의하게 낮았고(p<0.01), $VO_2$max으로 구분하였을 때는 중증군에서 안정시 폐기능검사치 중 $FEV_1$(%)만 유의하게 낮았다(p<0.05). Max WR, max WR(%) 및 초점 접수는 중증군에서 유의하게 낮았다(p<0.01) $VO_2$max(%)이 60% 미만인 경우를 중증군으로 하였을 때 $FEV_1$, $FEV_1$(%), MVV(%), max WR와 max WR(%), 초점 점수 등이 중증군에서 유의하게 낮았다(p<0.05). 초점 점수의 중위수 혹은 5점보다 낮은 경우를 중증군으로 분류하였을 때, 중증군에서 안정시 폐기능치들은 비중증군과 차이가 없었으나(p>0.05), max WR와 max WR(%), $VO_2$max와 $VO_2$max(%)는 유의하게 낮았다(p<0.01). 초점점수와 $VO_2$max의 상관계수는 0.51(p<0.01), $VO_2$max(%)은 0.52(p<0.01)이었으며, 안정시 폐기능 검사치 중 $FEV_1$(%)은 0.41(p<0.01)였다. 초점 점수의 $VO_2$max에 대한 결정계수는 0.26(p=0.0002)였고, $VO_2$max(%)에 대한 결정계수는 0.06(p=0.0001)였다. $FEV_1$은 각각 0.08(p=0.01), 0.38(p=0.0189)였다. 안정시 폐기능검사치 $VO_2$max, $VO_2$max(%)를 기준으로 중증 폐기능손상을 구분하였을 때 선택기준에 따라 민감도와 특이도가 차이가 있었고, 초점 점수의 중위수 및 5점을 기준으로 중증 폐기능 손상을 분류했을 때의 민감도 및 특이도와 큰 차이가 없었다. 결 론: 이상과 같은 결과로 안정시 폐기능검사만으로는 $VO_2$max를 정확하게 예측하기 힘들며, 특별한 금기사항이 없는 한 안정시 폐기능검사상 정상 혹은 경미한 손상을 보이는 환자뿐만 아니라 중증손상을 보이는 환자에서도 심폐운동검사를 시행하여 폐기능 손상 평가의 정확도를 높이는 것이 좋을 것으로 여겨지며, 폐기능 손상평가의 기존 기준들에 호흡곤란정도를 반영할 수 있을 것으로 여겨진다.

  • PDF

질환에 따른 기능장애 요소의 이해와 물리치료 (Understanding and Physical therapy of Functional Disability Factors according to Disease)

  • 박승규;김상엽
    • 대한물리치료과학회지
    • /
    • 제6권3호
    • /
    • pp.83-89
    • /
    • 1999
  • We are approaches various painful diseases in clinic. Although same disease, it is different to acute, subacute and chronic stage of disease. Therefore, to understanding of tissue anatomy, pathology and physiology is necessary to under-standing pattern of diseases. It is duty work that choice of hot or ice, electrotherapy, choice of adaptable frequency and mathod of exercise therapy etc. During treatment it is important method to choose to treat the client. As treating the client by exercising or treating when the client is resting and seeing if anything else is a problem etc. So what I have approached some of the treatment that a physical therapist could miss during treatment.

  • PDF

감염성 골질환의 핵의학 영상진단 (Nuclear Medicine Imaging Diagnosis in Infectious Bone Diseases)

  • 최윤영
    • Nuclear Medicine and Molecular Imaging
    • /
    • 제40권4호
    • /
    • pp.193-199
    • /
    • 2006
  • Infectious and inflammatory bone diseases include a wide range of disease process, depending on the patient's age, location of infection, various causative organisms, duration from symtom onset, accompanied fracture or prior surgery, prosthesis insertion, and underlying systemic disease such as diabetes, etc. Bone infection may induce massive destruction of bones and joints, results in functional reduction and disability. The key to successful management is early diagnosis and proper treatment. Various radionuclide imaging methods including three phase bone scan, Ga-67 scan, WBC scan, and combined imaging techniques such as bone/Ga-67 scan, WBC/bone marrow scan add complementary role to the radiologic imaging modalities including plain radiography, CT and MRI. F-18 FDG PET imaging also has recently been introduced in diagnosis of infected prosthesis and chronic active osteomyelitis. Selection of proper nuclear medicine imaging method will improve the diagnostic accuracy of infections and inflammatory bone diseases, based on understading of pathogenesis and radiologic imaging findings.

장애노인 가구의 과부담 보건의료비 결정요인에 관한 종단적 연구 (The Longitudinal Study on the Factors of Catastrophic Health Expenditure Among Disabled Elderly Households)

  • 노승현
    • 한국사회복지학
    • /
    • 제64권3호
    • /
    • pp.51-77
    • /
    • 2012
  • 본 연구는 장애노인의 과부담 보건의료비 현황 및 영향요인을 밝히기 위한 목적으로 진행되었다. 과부담 보건의료는 지불능력 대비 가구 보건의료비 지출이 역치기준(10%, 20%, 30%, 40%)을 초과한 상태로 정의하였다. 본 연구는 장애인고용패널조사 1, 2, 3차년 통합자료를 활용하였으며, 연구대상으로 60세 이상의 장애노인 726명을 분석대상으로 삼았다. 장애노인가구의 과부담 보건의료비 영향요인을 밝히기 위하여 패널로짓분석을 사용하였다. 연구결과 연령이 높을수록, 배우자가 있을 때, 내부 장애인의 경우, 건강상태가 나쁠 때, 만성질환이 있을 때, 가구원 수가 많을수록, 장애가족비율이 높을수록, 노인가족비율이 높을수록, 빈곤유형 중 빈곤 비수급가구에 속할 때 과부담 보건의료비 위험이 높아지는 것으로 나타났다. 연구결과에 기초하여 우리나라의 장애노인 가구의 과부담 보건의료비 경감을 위한 제언을 제시하였다.

  • PDF

만성 요통 환자에게 미세전류의 적용이 통증 및 기능에 미치는 영향 (The Influence of Microcurrent on Pain and Function of Patients with Chronic Back Pain)

  • 박장성;정화수
    • 대한임상전기생리학회지
    • /
    • 제8권1호
    • /
    • pp.1-5
    • /
    • 2010
  • Purpose : This research inquires into the effect of applying microcurrent (MC) according to various frequency levels on the pain and functional recovery of patients with chronic back pain. Methods : Thirty participants with chronic lower back pain disease were divided equally into three experimenta l groups. The MC frequency used in the first experimental group was 0.5Hz, the second experimental group was 50Hz, and the third experimental group was 100Hz for 20 minute sessions. A hot pack and ultrasound were applied to all groups as the general physical therapy. Measurements were taken using the visual analogue scale (VAS), the face pain rating scale (FPRS), and the Oswestry disability index (001). The analysis used the paired t-test in order to compare pretest and posttest results. A one-way ANOVA was performed to make comparisons with regards to frequency levels. Results : VAS, FPRS, and 001 showed significant pain decrease in all groups except for the 001 measurement in the 0.5 Hz group. There were no significant differences according to frequency levels. Conclusion: For chronic pain and functional recovery, a microcurrent produces an effect after treatment. However, results did not show a significant difference in change obtained from differing frequency levels.

노인의 사회계층간 질병부담격차 (Differences in the burden of disease of the elderly by socioeconomic status)

  • 이채은;권순만
    • 보건행정학회지
    • /
    • 제18권4호
    • /
    • pp.1-22
    • /
    • 2008
  • Burden of disease analysis provides a unique perspective on health by integrating fatal and non-fatal outcomes, yet allows the outcome of two classes to be examined separately. Although many studies have shown the inequality in health outcomes across socioeconomic status (SES), an analysis and comparison of Disability Adjusted Life Year (DALY) between different socioeconomic groups has been rare. This paper calculates the DALY and analyzes the distribution of DALYs for different SES. This study draws from 3,278 cases from the survey on "The Livelihood and Welfare Needs of the Elderly (2004)". It first provides a comprehensive assessment of the burden of 10 chronic diseases of the elderly based on DALY. Then this paper analyzes inequalities in the burden of disease by the levels of SES such as education, income, family size, occupation, and subjective economic conditions. For the elderly, the burden of disease is the highest for hypertension, arthritis and cancer. DALY rate per 1,000 people for the most socio-economically disadvantaged group is expressed as a multiple of the standardized rate for the least disadvantaged group (Rate Ratios). Family size is strongly related to. the difference in the burden of disease between SES groups, and the elderly Who live alone have higher DALY rate than those who live with their family. Other significant variables related to SES groups include subjective economic conditions, occupation, elderly income, and household income.

일개지역 저소득층 노인의 신체적 기능상태에 관한 연구 (A Survey on Functional Status among Low-Income Older Adults Living at Home)

  • 전경자;조윤미
    • 대한간호학회지
    • /
    • 제31권5호
    • /
    • pp.749-758
    • /
    • 2001
  • The purpose of the study was to analyze the functional status of low income elderly living at home according to their socio-economic factors, sensory function, health status, medical service utilization, commodity and types of chronic disease. Method: Functional status was defined by the level of mobility, ADL and IADL categorized as independently functional, mildly impaired, moderately disabled, and severely disabled. The data was collected by home-visit interviews with 567 community dwelling adults who were 65 years of age or more with low a income status subsidized by government in ChonAn. Results: 9.9% of community dwelling older adults were severely disabled, and 44.4% were moderately disabled in their functional status. There were significant differences in the functional status by age, education, religion, and types of family structure. The older adults with hearing impairment or dental problems had a significantly higher rate of severe disability. Self-rated health status and medical service utilization were also significant factors to the differences in functional status. The functional status of older adults was also significantly related to the presence of chronic health problems such as chronic back pain, stroke, and Alzheimer-dementia. Conclusion: The results confirmed that community dwelling older adults with low income status were more functionally disabled in comparison to general older adults at national level, while the relating factors to their functional status seemed similar to other studies on older adults. Further studies were suggested to look into functional status longitudinally and focus on the changes of functional status by managing modifiable influencing factors.

  • PDF

과학기술지식정보서비스의 보건의료 분야 연구·개발과제: 분포와 연구비용 비중 분석 (An Analysis of Heath-Related Research and Development Registered at the National Technical Information Services)

  • 고영곤;정태영;정혜주;차선화;유사라;조민진;차수진;문다슬;서지영;조규진
    • 보건행정학회지
    • /
    • 제25권2호
    • /
    • pp.71-79
    • /
    • 2015
  • With the growth of aging population in Korea, a better care of chronic and other degenerative illnesses is urgently needed. Evidences suggest that this can be achieved through incorporating a wide range of care options, expanding beyond medical interventions. The aim of this study is to analyze the distribution of publically funded research to understand if the Korean research and development funding system matches various approaches and purposes to successfully tackle the chronic care needs of an aging society. We complied the list of funded projects to be analyzed by searching the National Technical Information Service database with key words such as aging society/senescence, chronic diseases, disability, and health promotion. Most projects were based on the biomedical approach with the purpose of establishing the etiology and clinical (treatment) interventions. Health promotion projects showed a distinctive distribution with more percentage of projects based on psycho-behavioral approaches while research on chronic diseases predominantly biomedical. It would be necessary to diversify publically-funded research projects to develop effective and efficient care technologies for the future.

뇌졸중 생존 노인들의 건강관련 삶의 질 영향 요인 (A Study on the Major Factors Affecting Health-Related Quality of Life of Elderly Stroke Survivors)

  • 양정빈
    • 한국노년학
    • /
    • 제30권4호
    • /
    • pp.1239-1261
    • /
    • 2010
  • 본 연구는 장기간 노인(전문)병원 및 요양시설에서 생활하고 있는 뇌졸중 생존 노인들의 건강관련 삶의 질에 미치는 요인들이 무엇인지 규명함으로써 대상자들의 삶의 질 증진을 위한 사회복지 실천 방안들을 제언하고자 시행되었다. 연구 대상자는 충청지역 및 D 광역시 소재 노인(전문)병원 18곳과 요양시설 13곳에서 장기 입원(입소)하고 있는 55세 이상의 뇌졸중 생존 노인들이며 서베이 방법을 사용하여 직접면담조사를 실시하였다. 조사는 2008년 12월 16일부터 2009년 1월 17일까지 실시되었고, 총 328부의 설문지가 통계분석에 이용되었다. 연구결과 대상자들이 인지하고 있는 건강관련 삶의 질은 비교적 낮게 나타났고, 특히 건강관련 삶의 질을 구성하고 있는 하위 영역 중 사회적 관계 영역이 가장 낮게 나타났다. 투입된 독립변수들이 건강관련 삶의 질에 미치는 상대적 영향력은 '우울', '향후 경제적 부담감', '일상생활수행능력', '장애수용', '중복질환', '경제적 주부양자가 배우자인 경우'순으로 나타났다. 본 연구를 통해 장기재활 및 요양서비스를 이용하고 있는 뇌졸중 생존 노인들의 건강관련 삶의 질에 질병관련 요인뿐만 아니라 심리사회적 요인, 환경적 요인 모두 중요한 영향을 미치고 있다는 것이 규명되었고, 그 가운데서도 심리사회적 요인의 영향력이 제일 큰 것으로 밝혀졌다. 이를 바탕으로 노인의료복지시설에서 생활하고 있는 뇌졸중 생존 노인들의 삶의 질을 향상시키고 더 나아가 사회복지사들의 역량을 고취시킬 수 있는 사회복지 방안들이 논의되었다.