• 제목/요약/키워드: degenerative disease

검색결과 471건 처리시간 0.023초

A Novel COMP Gene Mutation in a Korean Kindred with Multiple Epiphyseal Dysplasia

  • Ko, Jung-Min;Kwack, Kyu-Sung;Baek, Kum-Nyeo;Cho, Dae-Yeon;Kim, Hyon-Ju
    • Journal of Genetic Medicine
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    • 제6권1호
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    • pp.81-86
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    • 2009
  • 다발성 골단이형성증은 임상적 및 유전학적으로 이질적인 연골이형성증으로, 골화 중심의 발달 지연, 골단만을 침범하는 사지의 변형 및 경한 저신장을 보이는 질환이다. 원인으로는 COMP 유전자의 돌연변이가 가장 흔히 발견되고 있으며, 돌연변이의 대부분은 칼모듈린 유사 반복(calmodulin-like repeats)부분과 C-말단에 위치한다. 저자들은 4대에 걸쳐 12명의 가족구성원에서 다발성 골단이형성증을 보인 한 가계에서 COMP 유전자 분석으로 새로운 돌연변이를 발견하여 보고하는 바이다. 이 가계는 젊은 나이에 퇴행성 관절염이 발생하고, 추후 관절치환술이 요구되는 상염색체 우성 유전 방식을 보이는 질환을 가지고 있었다. 방사선학적 검사상 양측 무릎 관절의 내측 대퇴돌기에 골연골 결손을 보였으며, 양측 무릎과 엉덩이 관절은 다양한 정도의 퇴행성 변화가 관찰되었다. 계보발단자 및 5명의 다른 이환된 가족들에서 시행한 COMP 유전자 분석에서, 12번째 엑손에서 현재까지 보고되지 않은 새로운 돌연변이인 c.1280G>C (p.Gly427Ala)을 확인하였다. 이 돌연변이는 다른 3명의 이환되지 않은 가족들에서는 발견되지 않았다. 상염색체 우성 방식을 보이는 다발성 골단이형성증 환자들에서 COMP 유전자의 직접 염기서열 분석법은 질병의 원인이 되는 돌연변이를 찾는데 도움이 되며, 고위험 가족들에서 보인자를 찾아낼 수 있고, 질병의 합병증이 발생하기 이전에 조기 진단 및 중재를 가능케 하는 유전 상담의 기회를 제공해 줄 수 있다.

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가토 악하선 도관 절단술 및 결찰술 후 근상피세포의 변화 (THE CHANGE OF MYOEPITHELIAL CELL AFTER LIGATION AND CUT OF SUBMANDIBULAR GLAND DUCT IN RABBIT)

  • 윤원석;김철환;김경욱
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • 제32권2호
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    • pp.81-93
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    • 2006
  • Obstructive sialadenitis is one of common disease in salivary gland, and most common histologic features are loss of acinar cell and ductal dilatation associated with fibrosis, and infiltration of inflammatory cells. Although many experimental studies has been accomplished for the salivary acinar cell change in obstructive salivary gland disease, studies for myoepithelial cell were deficient. This study is designed for salivary gland tissue change, especially myoepithelial cell when nonspecific chronic sialadenitis or salivary duct injury by duct obstruction or cut can be occurred that is common encounted clinically. After ligation and cutting of submandibular gland of rabbit, groups of aminmal were sacrificed at 1, 2, 4 weeks postoperatively, submandibular gland were removed. The histopathologic evaluation was done with light microscopy. And, with immunohistochemical staining with ${\alpha}$-smooth muscle actin, characteristics of myoepithelial cell were examined. With transmission electron microscopy, ultrastructure of myoepithelial cell were examined for distribution and ultrastructure of myoepithelial cell. The results were obtained as follows: 1. In the histopathologic evaluation, ligation and cutting group of 1 week, linkage of myoepithelial cell associated with acinar atrophy and degeneration were disappeared in both group. 2. More prominent squamous metaplasia was seen in acinar cells of ligation group of 2 weeks experimental rabbit than cutting group. 3. Acinar cells are nearly disappeared in both ligation and cutting group of 4 weeks, and myoepithelial cell also disappeared associated with acinar cell atrophy, and duct-like structure composed by squamous cells by squamous metaplasia in acinar cells were distributed. 4. In immunohistochemical study, both ligation and cutting group ${\alpha}$-SMA distribution were diminished at 1 week experimental rabbits, but myoepithelial cell was more diminished in ligation group than cutting group, which were distributed around cells of squamous metaplasia. 5. Nuclear condensation, chromosome margination, and cytoplasmic vaculoation were appeared in myoepithelial cell of both cutting and ligation group after 1 week with transmission electron microscopy. But degenerative substance were seen in cytoplasm of myoepithelial cell of ligation group of 4 weeks. From the results obtained in this study, atrophy and degeneration of myoepithelial cell was more prominent in duct ligation group than duct cutting group, and myoepithelial cells were seen around cells squamous metaplasia of acinar cell.

퇴행성 슬관절염에 대한 핵의학적 고찰 (The nuclear medicinal study on degenerative arthritis of knee joint using traditional acupuncture)

  • 김영규;박소영;고강훈;윤민영;진경선;장병선;오희홍;김성철;황우준;송호천;안수기
    • Journal of Acupuncture Research
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    • 제19권1호
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    • pp.127-134
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    • 2002
  • Background and Purpose : Now, a lot of people are suffering from arthritis of knee joint. Western and oriental medicine, all of them are trying various methods to cure this disease, but generally the grade or level of repairing has been decided by the subjective estimation of the patients and doctors. So, we suggest the new standard for estimating the level of repair in this disease using nuclear medicine. Objective : To evalute the difference of the blood pool and delayed images in the correlation with clinical symptoms in patients with arthritis of knee joint by using acupuncture. Methods : Eight patients with arthritis of knee joint included in this study. Using Thermograph (D.I.T.I) and Radionuclide, we obtained the results. In Bone scan Tc-99m MDP, and MIBI scan was obtained at 1 minute and 3 hour after injection of 1,110 MBq Tc-99m MDP and MIBI. The analysis was carried out hurted area of joint. The Joint-to-background(J/B) ratios were obtained exclusively in the joints regions. Clinical symptoms were evaluated as pain and swelling graded from 0(no) to 5(severe) in the same joints, respectively. Results : J/B ratios on the delayed scans were higher than those on blood pool images. There was significant correlation between clinical symptoms and J/B on blood pool image in the joints =0.03). Conclusion : The results demonstrate that blood pool images of Tc-99m MDP scintigraphy correlates with clinical symptoms more than delayed images in patients with arthritis Joint.

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유료노인전문요양원 입주의사 결정요인에 관한 연구 (Factors Influencing the Intention of Admission into a Charged Nursing Home for the Elderly)

  • 유영순;조은희;유병철;정귀원;엄상화;김성준;전진호
    • Journal of Preventive Medicine and Public Health
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    • 제34권1호
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    • pp.1-8
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    • 2001
  • Objectives : To gather information about the factors which influence the interest and intention of admission into charging nursing hones for the elderly(CNH), as these homes represent an important method for resolving the problems related to the rapid population aging occurring in Korea. Methods : A face-to-face interview survey was carried out with 320(men 159, women 165) patients over 60 years old who were admitted at 2 university hospitals and 5 general hospitals in the Busan area between December 1998 and March 1999. Data were analyzed through t-test, ANOVA, correlation and multiple regression analysis. Results : The mean age and years of education of the study population was 67.0 and 7.7 years, and the types of chronic degenerative disease included musculoskeletal disorders(20.1%), cerebrovascular disease(17.1%), and diabetes(14.3%). The major forms of household living arrangement prior to admission were elderly alone(22.6%), and elderly couple(33.5%), while about half of them(55.5%) didn't want to live with their children id the future. Almost half were paying medication fees by themselves(46.6%). The level of actual intention of admission$(3.07{\pm}1.39)$ into a CNH was lower than that of interest$(3.22{\pm}1.33)$(p<0.01). Multiple analysis revealed that the intention of admission increased with decreasing number of future supportive persons$(\beta=-0.107)$, lower level of activity in daily life$(\beta=-0.447)$, and longer years of education$(\beta=-0.447)$ with 32.7% of $R^2$. As for the factors which determined the admission into a CNH, the fee and facilities were considered to be most important, and professional nursing and physician's care were the most desired services. In nomenclature, they preferred 'elderly hospital' or 'elderly health center' to CNH. Conclusions : Interest in CNH is increasing recently, but existing studies about patient experiences in CHN are still limited. This study may form a basis for future examinations of the needs and uses for CNH. Active financial support and public information are considered by the authors to be important factors for the induction of welfare services for the elderly, though CNH.

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농촌지역 주민의 건강관련 행위와 질병이환과의 관계 (Health related practices and morbidity among adult in rural area)

  • 송주복;이부옥;신해림;정갑열;김준연
    • Journal of Preventive Medicine and Public Health
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    • 제30권2호
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    • pp.342-355
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    • 1997
  • This research was carried out to determine the performance rate of health related practices, to measure the agreement between morbidity by doctor's diagnosis and morbidity by subject' self-reported and the degree of association between health related practices and morbidity rate by doctor's diagnosis, to identify their effects on morbidity among rural area populations. The data were gathered by volunteer residents (over the age of 20) of Haman Myeon, Haman Gun, Kyeongsangnam Do in Korea, from June 10, 1993 to June 12, 1993 (369 male and 516 female). Face to face interview, lab, chest P-A, EKG and physical examination were completed. Descriptive statistics, agreement analysis and multiple logistic regression procedures were employed for analyses. The results of the study were summarized as follows : 1) Age adjusted morbidity rates by doctor's diagnosis and self-reported were 38.5% (male:37.3%, female:36.5%), 26.4% (male:33.3%, female:27.5%), respectively. Kappa coefficient between morbidity by doctor's diagnosis and morbidity by self-reported was 0.21 (male:0.21, female:0.22). 2) The frequency of disease by doctor's diagnosis was as follows: hypertension(15.3%), gastritis (9.6%), diabetes mellitus (8.5%), live. disease (8.1%), and degenerative arthritis (6.2%) in the study population. 3) Order of health practice performance rate was as follows: Males-normal body weight (62.1%), non-heavy alcohol consumption (57.5%), 7-8 hours of sleeping (50.1%), non-smoking (21.7%), and exercise (19.8%). Females- non-heavy alcohol consumption (97.3%), non-smoking (84.7%), normal body weight (57.8%), 7-8 hours of sleeping (45.0%), and exercise (9.9%). 4) There was no significant relationship between health related practice and morbidity except exercise among health related practices. 5) Health related practice index which was recategorized by high, medium, and low had effects on the probability of developing morbidity.

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칠복음(七福飮)이 Glucose Oxidase에 의해 손상(損傷)된 대뇌피질(大腦皮質) 신경세포(神經細胞)에 미치는 영향(影響) (Effects of Chilbokyeum on the Cerebral Cortex Neuron injured by Glucose Oxidase)

  • 최공한;박승택;류도곤;최민호;엄상섭;허진영;강성도;고정수;서의석;성은경;조남수;이춘우;황일택;선성규;류영수
    • 동의생리학회지
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    • 제14권2호통권20호
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    • pp.199-208
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    • 1999
  • As the average life span have been lengthened and the rate of senile population have been raised, chronic degenerative diseases incident to aging has been increased rapidly and become a social problem. With this social background, recently, the facts that oxygen radicals(OR) have toxic effects on Central Nervous System and Peripheral Nervous System and cause neuropathy such as Parkinson's Disease, Alzheimer Disease have been turned out, and accordingly lots of studies on the mechanism of the toxic effects of OR on nerves, the diseases caused by OR and the approaches to curing the diseases have been made. The purpose of this study is to examine the toxic effects caused by Glucose Oxidase(GO) and the effects of herbal extracts such as Chilbokyeum(CBY) on the treatment of the toxic effects. For this purpose, experiments with the cultured cell from the cerebrums of new born mice were done. The results of these experiments were as follows. 1. GO, a oxygen radical, decreased the survival rate of the cultured cells on NR assay and MTT assay 2. GO, a oxygen radical, increased lipid peroxidation and the amount of LDH. 3. CBY have efficacy of decreasing lipid peroxidation. 4. CBY have efficacy of decreasing the amount of LOH. From the above results, It is concluded that Chilbokyeum has marked efficacy as a treatment for the damages caused in the GO-mediated oxidative process. And Chilbokyeum is thought to have certain pharmacological effects on controlling over aging and treating Dementia. Further clinical study of this pharmacological effects of Chilbokyeum should be complemented.

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MiR-144-3p and Its Target Gene β-Amyloid Precursor Protein Regulate 1-Methyl-4-Phenyl-1,2-3,6-Tetrahydropyridine-Induced Mitochondrial Dysfunction

  • Li, Kuo;Zhang, Junling;Ji, Chunxue;Wang, Lixuan
    • Molecules and Cells
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    • 제39권7호
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    • pp.543-549
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    • 2016
  • MicroRNAs (miRNAs) have been reported to be involved in many neurodegenerative diseases. The present study focused on the role of hsa-miR-144-3p in one of the neuro-degenerative diseases, Parkinson's disease (PD). Our study showed a remarkable down-regulation of miR-144-3p expression in 1-methyl-4-phenyl-1, 2, 3, 6-tetrahydropyridine (MPTP)-treated SH-SY5Y cells. MiR-144-3p was then overexpressed and silenced in human SH-SY5Y cells by miRNA-mimics and miRNA-inhibitor transfections, respectively. Furthermore, ${\beta}$-amyloid precursor protein (APP) was identified as a target gene of miR-144-3p via a luciferase reporter assay. We found that miR-144-3p overexpression significantly inhibited the protein expression of APP. Since mitochondrial dysfunction has been shown to be one of the major pathological events in PD, we also focused on the role of miR-144-3p and APP in regulating mitochondrial functions. Our study demonstrated that up-regulation of miR-144-3p increased expression of the key genes involved in maintaining mitochondrial function, including peroxisome proliferator-activated receptor ${\gamma}$ coactivator-$1{\alpha}$(PGC-$1{\alpha}$), nuclear respiratory factor 1 (NRF-1) and mitochondrial transcription factor A (TFAM). Moreover, there was also a significant increase in cellular ATP, cell viability and the relative copy number of mtDNA in the presence of miR-144-3p overexpression. In contrast, miR-144-3p silencing showed opposite effects. We also found that APP overexpression significantly decreased ATP level, cell viability, the relative copy number of mtDNA and the expression of these three genes, which reversed the effects of miR-144-3p overexpression. Taken together, these results show that miR-144-3p plays an important role in maintaining mitochondrial function, and its target gene APP is also involved in this process.

The Predictable Factors of the Postoperative Kyphotic Change of Sagittal Alignment of the Cervical Spine after the Laminoplasty

  • Lee, Jun Seok;Son, Dong Wuk;Lee, Su Hun;Kim, Dong Ha;Lee, Sang Weon;Song, Geun Sung
    • Journal of Korean Neurosurgical Society
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    • 제60권5호
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    • pp.577-583
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    • 2017
  • Objective : Laminoplasty is an effective surgical method for treating cervical degenerative disease. However, postoperative complications such as kyphosis, restriction of neck motion, and instability are often reported. Despite sufficient preoperative lordosis, this procedure often aggravates the lordotic curve of the cervical spine and straightens cervical alignment. Hence, it is important to examine preoperative risk factors associated with postoperative kyphotic alignment changes. Our study aimed to investigate preoperative radiologic parameters associated with kyphotic deformity post laminoplasty. Methods : We retrospectively reviewed the medical records of 49 patients who underwent open door laminoplasty for cervical spondylotic myelopathy (CSM) or ossification of the posterior longitudinal ligament (OPLL) at Pusan National University Yangsan Hospital between January 2011 and December 2015. Inclusion criteria were as follows : 1) preoperative diagnosis of OPLL or CSM, 2) no previous history of cervical spinal surgery, cervical trauma, tumor, or infection, 3) minimum of one-year follow-up post laminoplasty with proper radiologic examinations performed in outpatient clinics, and 4) cases showing C7 and T1 vertebral body in the preoperative cervical sagittal plane. The radiologic parameters examined included C2-C7 Cobb angles, T1 slope, C2-C7 sagittal vertical axis (SVA), range of motion (ROM) from C2-C7, segmental instability, and T2 signal change observed on magnetic resonance imaging (MRI). Clinical factors examined included preoperative modified Japanese Orthopedic Association scores, disease classification, duration of symptoms, and the range of operation levels. Results : Mean preoperative sagittal alignment was $13.01^{\circ}$ lordotic; $6.94^{\circ}$ lordotic postoperatively. Percentage of postoperative kyphosis was 80%. Patients were subdivided into two groups according to postoperative Cobb angle change; a control group (n=22) and kyphotic group (n=27). The kyphotic group consisted of patients with more than $5^{\circ}$ kyphotic angle change postoperatively. There were no differences in age, sex, C2-C7 Cobb angle, T1 slope, C2-C7 SVA, ROM from C2-C7, segmental instability, or T2 signal change. Multiple regression analysis revealed T1 slope had a strong relationship with postoperative cervical kyphosis. Likewise, correlation analysis revealed there was a statistical significance between T1 slope and postoperative Cobb angle change (p=0.035), and that there was a statistically significant relationship between T1 slope and C2-C7 SVA (p=0.001). Patients with higher preoperative T1 slope demonstrated loss of lordotic curvature postoperatively. Conclusion : Laminoplasty has a high probability of aggravating sagittal balance of the cervical spine. T1 slope is a good predictor of postoperative kyphotic changes of the cervical spine. Similarly, T1 slope is strongly correlated with C2-C7 SVA.

CIDP와 CMT 1형의 전기생리학적 특성에 대한 정량 분석: 감각신경연구 (Quantitative Analysis of Electrophysiological Characteristics of CIDP and CMT Type 1: Sensory Nerve Research)

  • 강지혁
    • 대한임상검사과학회지
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    • 제53권2호
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    • pp.151-157
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    • 2021
  • 선천성 유전질환인 CMT와 후천성 면역 매개 질환인 CIDP는 임상적 증상이 유사하므로 두 질환의 감별진단을 위해서는 말초신경의 전기생리학적 특징을 비교하는 것이 도움이 될 수 있다. 본 연구는 CIDP와 CMT 1형으로 확진된 환자의 신경전도검사 결과 중 감각신경전도검사의 주요 지표별 결과를 후향적으로 정량분석하여 두 질환군의 전기생리학적 특징을 규명하고자 하였다. CIDP (N=35)와 CMT1 (N=30)로 확진된 환자의 dCNAP와 SNCV를 이용하여 두 질환군의 중증도 분석, 유의성 검정, 비정상 범위별 비율분석 및 상관분석을 실시하여 통계적 차이를 기반으로 특징을 비교하였다. 두 질환 모두 전신성 말초신경다발신경병증의 특징이 관찰되었고, 장딴지신경의 손상이 가장 심한 것으로 확인되었다. CMT1군은 탈수초성 및 축삭성 신경병증을 동반하는 전신성 신경병증이고, CIDP보다 더 중증의 신경병증임이 확인되었다. 또한, 상관계수 및 산점도 분석에서 CMT1은 신경 손상 범위가 전체 신경에서 균등한 전기생리학적 특징이 관찰되었다. 감각신경전도검사의 결과를 기반으로한 본 연구결과가 CIDP와 CMT 1형의 감별진단 및 연구에 도움이 될 것으로 사료된다.

노인의 재활 필라테스 운동이 낙상 예방 효과에 대한 고찰 (A Study on Effects of the Fall Prevention in the Rehabilitation Pilates Exercise)

  • 김지선
    • 한국응용과학기술학회지
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    • 제40권2호
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    • pp.290-300
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    • 2023
  • 본 연구는 노인들의 낙상 위험 기전을 이해하고 필라테스 재활 운동 원리가 노인들의 균형 능력과 자세 안정화에 긍정적 효과를 기대할 수 있는지 선행 연구 자료를 고찰하였고, 재활 필라테스 운동의 낙상 예방 효과에 대한 문헌적 기초자료를 제시하는데 연구의 목적이 있다. 이에 다음과 같은 결론을 제시하고자 한다. 첫째, 재활 필라테스 운동은 척추와 골반의 안정화를 위한 신체 중심부의 강화 운동이 가능하고, 신경근을 촉진시켜 균형과 관절 안정화에 효과가 있다. 둘째, 노화에 따른 고유수용기 감각 저하와 근골격계 퇴행 질환은 균형 능력 상실과 자세 유지의 불안정성을 높여 운동 기능 수행의 어려움과 보행 장애로 낙상 손상 위험을 높이게 된다. 셋째, 재활 필라테스 운동은 노인들의 코어 근력 향상으로 균형과 반응시간 운동 기능 향상을 기대할 수 있으며, 낙상 예방에 관여되는 신체 불균형 개선과 움직임 안정성에 긍정적 영향을 미쳐 낙상 위험률 감소에 기여할 가능성을 제시할 수 있다. 결론적으로 재활 필라테스가 노인운동 프로그램으로서 신체의 근력 향상, 균형 감각 향상, 코어의 안정화 효과를 나타내 근골격계 퇴행에 따른 낙상 손상의 위험 요인을 감소시키고, 노인성 만성질환에 따른 심각한 활동 장애를 예방할 수 있음을 고찰하였다.