• Title/Summary/Keyword: chronic disease/disability

Search Result 76, Processing Time 0.04 seconds

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
    • /
    • v.19 no.1
    • /
    • 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.

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

  • Park, Jae-Min;Lee, Jun-Gu;Kim, Young-Sam;Chang, Yoon-Soo;Ahn, Kang-Hyun;Cho, Hyun-Myung;Kim, Se-Kyu;Chang, Joon;Kim, Sung-Kyu;Lee, Won-Young
    • Tuberculosis and Respiratory Diseases
    • /
    • v.46 no.2
    • /
    • pp.204-214
    • /
    • 1999
  • Background: Resting pulmonary function tests(PFTs) are routinely used in the evaluation of pulmonary impairment/disability. But the significance of the cardiopulmonary exercise test(CPX) in the evaluation of pulmonary impairment is controvertible. Many experts believe that dyspnea, though a necessary part of the assessment, is not a reliable predictor of impairment. Nevertheless, oxygen requirements of an organism at rest are different from at activity or exercising, and a clear relationship between resting PFTs and exercise tolerance has not been established in patients with chronic pulmonary disease. As well, the relationship between resting PFTs and dyspnea is complex. To investigate the relationship of dyspnea, resting PFTs, and CPX, we evaluated the patients of stabilized chronic pulmonary disease with clinical dyspnea rating(baseline dyspnea index, BDI), resting PFTs, and CPX. Method: The 50 patients were divided into two groups: non-severe and severe group on basis of results of resting PFTs(by criteria of ATS), CPX(by criteria of ATS or Ortega), and dyspnea rating(by focal score of BDI). Groups were compared with respect to pulmonary function, indices of CPX, and dyspnea rating. Results: 1. According to the criteria of pulmonary impairment with resting PFTs, $VO_2$max, and focal score of BDI were significantly low in the severe group(p<0.01). According to the criteria of $VO_2$max(ml/kg/min) and $VO_2$max(%), the parameters of resting PFTs, except $FEV_1$ were not significantly different between non-severe and severe(p>0.05). According to focal score($FEV_1$(%), FVC(%), MW(%), $FEV_1/FVC$, and $VO_2$max were significantly lower in the severe group(p<0.01). However, in the more severe dyspneic group(focal score<5), only $VO_2$max(ml/kg/min) and $VO_2$max(%) were low(p<0.01). $FEV_1$(%) was correlated with $VO_2$max(%)(r=0.52;p<0.01), but not predictive of exercise performance. The focal score had the correlation with max WR(%) (r=0.55;p<0.01). Sensitivity and specificity analysis were utilized to compare the different criteria used to evaluate the severity of pulmonary impairment, revealed that the classification would be different according to the criteria used. And focal score for dyspnea showed similar sensitivity and specificity. Conclusion : According to these result, resting PFTs were not superior to rating of dyspnea in prediction of exercise performance in patients with chronic pulmonary diseases and less correlative with focal score for dyspnea than $VO_2$max and max WR. Therefore, if not contraindicated, CPX would be considered to evaluate the severity of pulmonary impairment in patients with chronic pulmonary diseases, including with severe resting PFTs. Current criteria used to evaluate the severity of impairment were insufficient in considering the degree of dyspnea, so new criteria, including the severity of dyspnea, may be necessary.

  • PDF

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

  • Park, Seung-Kyu;Kim, Sang-Yeob
    • Journal of Korean Physical Therapy Science
    • /
    • v.6 no.3
    • /
    • 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

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

  • Choi, Yun-Young
    • Nuclear Medicine and Molecular Imaging
    • /
    • v.40 no.4
    • /
    • 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.

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

  • Roh, Seung-Hyun
    • Korean Journal of Social Welfare
    • /
    • v.64 no.3
    • /
    • pp.51-77
    • /
    • 2012
  • This study examines the scale of occurrence of Catastrophic Health Expenditure, and identifies the factors influencing Catastrophic Health Expenditure among disabled elderly households. Catastrophic Health Expenditure is defined by when the households' health care spending out of ability to pay exceeds 10%, 20%, 30%, and 40%. This study used the 2008, 2009, and 2010 surveys of the Panel Survey of Employment for the Disabled(PSED) to explore how gender, age, spouse, the level of education, the degree of disability, the type of disability, disability duration, subjective health status, chronic disease, the number of household members, the proportion of disabled households, the proportion of working households, the proportion of aged households, the type of poverty, household income, net asset, determine Catastrophic Health Expenditure among disabled elderly households. The study examines the frequency of Catastrophic Health Expenditure with 726 households, and conducted the panel logit model. The empirical results show that Catastrophic Health Expenditures are significantly related to age, spouse, the type of disability, subjective health status, chronic disease, the number of households, the proportion of disabled households, the proportion of aged households, the type of poverty. This study showed that the health care safety net in South Korea was insufficient for disabled elderly households and that a policy should be established in ordered to protect disabled elderly households from occurrence of Catastrophic Health Expenditure.

  • PDF

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

  • Park, Jang-Sung;Jung, Hwa-Su
    • Journal of the Korean Academy of Clinical Electrophysiology
    • /
    • v.8 no.1
    • /
    • 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.

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

  • Lee, Chae-Eun;Kwon, Soon-Man
    • Health Policy and Management
    • /
    • v.18 no.4
    • /
    • 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.

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

  • 전경자;조윤미
    • Journal of Korean Academy of Nursing
    • /
    • v.31 no.5
    • /
    • 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

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

  • Goh, Young-Gon;Jung, Tae Young;Chung, Hae Joo;Che, Xian Hua;Yu, Sarah;Jo, Min Jin;Cha, Su Jin;Moon, Da Seul;Suh, Ji Young;Cho, Ku Jin
    • Health Policy and Management
    • /
    • v.25 no.2
    • /
    • 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.

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

  • Yang, Jung-Bin
    • 한국노년학
    • /
    • v.30 no.4
    • /
    • pp.1239-1261
    • /
    • 2010
  • The main purposes of the study were to identify factors affecting health-related quality of life of elderly stroke survivors, and to suggest social work interventions for improving their quality of life. The participants were 328 elderly stroke survivors over 55 years old recruited from 18 long-term care hospitals and 13 nursing care facilities in Chung-Nam Province, Korea. The data was collected through a direct survey method from Dec. 16, 2008 to Jan. 17, 2009. Statistical analysis revealed that the overall health-related quality of life among participants was relatively low, especially in the social relationships domain. As a result of hierarchical multiple regression analysis, depression emerged as the most significant predictor of elderly stroke survivors' health-related quality of life, followed by financial burden in future, activities of daily living, acceptance of disability, comorbidity, and major financial supporter(spouse). Health-related quality of life of elderly stroke survivors in long-term care facilities was affected by a variety of variables from disease-related factors to environmental ones. Particularly psychosocial variables were the most powerful factors to predict HRQOL of elderly stroke survivors. Based on the results, social work implications were discussed in the context of developing clinical strategies to alleviate elderly stroke survivors' health-related quality of life in long-term care facilities. Living with chronic illness and disability is a great challenge to the elderly. Most of all long-term residence in care facilities can cause deterioration of quality of life in old age. From now on, studies on health-related quality of life of elderly with chronic illness and disability should be activated in social work field.