• 제목/요약/키워드: Degenerative diseases

검색결과 324건 처리시간 0.028초

당원 축적병 9D (GSD9D) 환자의 신규 PHKA1 돌연변이 (A Novel PHKA1 Mutation in a Patient with Glycogen Storage Disease Type IXD)

  • 김혜진;남수현;김상범;정기화;최병옥
    • 생명과학회지
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    • 제30권8호
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    • pp.672-679
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    • 2020
  • 원위 근병증은 원위 근육의 퇴행성 질환이며 임상적, 유전적으로 이질적인 그룹이다. 당원 축적병 9D (GSD9D)는 원위 근병증 중 하나이며, 근육의 포스포릴라아제키나아제(phosphorylase kinase) 결핍을 특징으로 하는 대사 근병증이다. GSD9D 환자는 운동 후 근육 약화, 근육 변성, 경련과 비정상적인 근육통 및 근육 경직이 발생될 수 있다. GSD9D는 글리코겐 대사의 주요 조절 효소 인 근육 포스포릴라아제키나아제의 알파 소단위를 암호화하는 PHKA1 유전자의 돌연변이로 유발된다. 이 연구에서 우리는 한국인 GSD9D 가족에 대해 PHKA1 유전자에서 c.3314T> C (p.I1105T) 돌연변이를 동정하였다. 이 돌연변이는 이전에 어떠한 돌연변이 데이터베이스에서도 보고되지 않았으며 500명의 건강한 대조군에서도 발견되지 않았다. 이 돌연변이 영역은 다양한 다른 종 내에서 잘 보존되었으며 in silico 분석에서 돌연변이가 병원성일 가능성이 있다고 예측했다. 현재까지 PHKA1 유전자에는 보고된 병원성 돌연변이가 7개뿐이며 한국에서는 보고된 사례가 없다. 따라서 이 연구는 한국 GSD9D 환자의 첫번째 사례이다. 또한 이 연구는 이전에 보고된 환자와 한국 환자의 임상 증상과 병리 상태를 비교하고 설명하고자 하였다. 아울러 우리는 본 연구가 GSD9D의 분자 진단에 유용하게 활용될 것으로 기대한다.

Induction of Angiogenesis by Matrigel Coating of VEGF-Loaded PEG/PCL-Based Hydrogel Scaffolds for hBMSC Transplantation

  • Jung, Yeon Joo;Kim, Kyung-Chul;Heo, Jun-Young;Jing, Kaipeng;Lee, Kyung Eun;Hwang, Jun Seok;Lim, Kyu;Jo, Deog-Yeon;Ahn, Jae Pyoung;Kim, Jin-Man;Huh, Kang Moo;Park, Jong-Il
    • Molecules and Cells
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    • 제38권7호
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    • pp.663-668
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    • 2015
  • hBMSCs are multipotent cells that are useful for tissue regeneration to treat degenerative diseases and others for their differentiation ability into chondrocytes, osteoblasts, adipocytes, hepatocytes and neuronal cells. In this study, biodegradable elastic hydrogels consisting of hydrophilic poly(ethylene glycol) (PEG) and hydrophobic poly(${\varepsilon}$-caprolactone) (PCL) scaffolds were evaluated for tissue engineering because of its biocompatibility and the ability to control the release of bioactive peptides. The primary cultured cells from human bone marrow are confirmed as hBMSC by immunohistochemical analysis. Mesenchymal stem cell markers (collagen type I, fibronectin, CD54, $integrin1{\beta}$, and Hu protein) were shown to be positive, while hematopoietic stem cell markers (CD14 and CD45) were shown to be negative. Three different hydrogel scaffolds with different block compositions (PEG:PCL=6:14 and 14:6 by weight) were fabricated using the salt leaching method. The hBMSCs were expanded, seeded on the scaffolds, and cultured up to 8 days under static conditions in Iscove's Modified Dulbecco's Media (IMDM). The growth of MSCs cultured on the hydrogel with PEG/PCL= 6/14 was faster than that of the others. In addition, the morphology of MSCs seemed to be normal and no cytotoxicity was found. The coating of the vascular endothelial growth factor (VEGF) containing scaffold with Matrigel slowed down the release of VEGF in vitro and promoted the angiogenesis when transplanted into BALB/c nude mice. These results suggest that hBMSCs can be supported by a biode gradable hydrogel scaffold for effective cell growth, and enhance the angiogenesis by Matrigel coating.

한약재 부산물 투여가 돈육의 기능성에 미치는 영향 (Feeding Effect of Oriental Medicine on the Functional Properties of Pig Meat)

  • 최진호;김동우;문영실;장동석
    • 한국식품영양과학회지
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    • 제25권1호
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    • pp.110-117
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    • 1996
  • 15종의 주요 한약제 부산물을 용량별(1.0%, 3.0%, 7.0%)로 사육용 돼지에 출하하기 30일 및 45일 전부터 투여하여 성인병의 예방과 생테 방어 시스템에 미치는 영향을 한약제 부산물 무첨가의 대조군과 비교.평가하였다. 체중 증가율 한약제 부산물 3.0% 투여군으로 서 45일이 가장 높았고 30일 투여도 상당한 효과가 인정되었지만, 사료 섭취량은 상대적으로 낮았다. 또 한약제 부산물 투여군은 대조군에 비하여 배설물의 악취는 감소한 반면 항생제 투여가 필요없을 정도로 발육상태가 양호하였고, 육질과 맛이 우수하였다. 트리클리세리트의 함량은 3.0% 한약제 부산물 투여군은 거의 같은 효과를 나타내고 있었지만, 총 콜레스테롤의 함량은 3.0% 한약제 투여군의 출하 30일전부터 투여하는 것이 가장 현저히 감소하였다. LDL-콜레스테롤 함량과 동맥경화지수도 1.0%이상의 한약제 부산물 투여군은 다?이 유의적으로 감소하고 있었다. 말론디알데히니(MDA)와 hydroxyl radical의 생성량도 1.0% 이상의 한약제 부산물 투여군이 거의 같은 경향으로 억제하고 있었다. 생테 방어시스템과 관계괴는 수퍼옥시 디스무타이제(SOD) 활성은 3.0% 한약제부산물 투여군으로서 출하하기 30일전부터 투여하는 것이 가장 효과적으로 증가하였다. 그러나 HDL-콜레스테롤의 함량은 한약제 부산물 투여군에서 출하하기 45일 전부터 투여하는 것만이 효과적으로 증가함을 알 수 있었다. 따라서 한약제 부산물을 사료에 3.0%정도 첨가하여 출하하기 30일전부터 투여했을 겨우, 고기의 육질과 맛도 좋고 성인병의 원인 물질을 현저히 감소할 수 있기 때문에 한약제 부산물을 사용한 기능성 돈육의 생산은 매우 바람직할 것으로 판단된다.

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오미자 활성성분 DDB의 NF-${\kappa}B$ 신호 전달 및 염증물질 발현 조절 (Regulation of Inflammatory Repertoires and NF-${\kappa}B$ Signal Transduction by DDB, an Active Compound from Schizandra Chinensis Baillon)

  • 주성수;유영민;원태준;김민정;이선구;황광우;이도익
    • IMMUNE NETWORK
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    • 제6권1호
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    • pp.27-32
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    • 2006
  • Background: Chronic inflammation in the brain has known to be associated with the development of a various neurological diseases including dementia. In general, the characteristic of neuro-inflammation is the activated microglia over the brain where the pathogenesis occurs. Pro-inflammatory repertoires, interleukin-1${\beta}$ (IL-1${\beta}$) and nitric oxide (NO), are the main causes of neuro-degenerative disease, particularly in Alzheimer's disease (AD) which is caused by neuronal destruction. Those pro-inflammatory repertoires may lead the brain to chronic inflammatory status, and thus we hypothesized that chronic inflammation would be inhibited when pro-inflammatory repertoires are to be well controlled by inactivating the signal transduction associated with inflammation. Methods: In the present study, we examined whether biphenyl dimethyl dicarboxylate (DDB), an active compound from Schizandra chinensis Baillon, inhibits the NO production by a direct method using Griess reagent and by RT-PCR in the gene expression of inducible nitric oxide synthase (iNOS) and IL-1${\beta}$. Western blots were also used for the analysis of NF-${\kappa}B$ and I${\kappa}B$. Results: In the study, we found that DDB effectively inhibited IL-1${\beta}$ as well as NO production in BV-2 microglial cell, and the translocation of NF-${\kappa}B$ was comparably inhibited in the presence of DDB comparing those to the positive control, lipopolysaccharide. Conclusion: The data suggested that the DDB from Schizandra chinensis Baillon may play an effective role in inhibiting the pro-inflammatory repertoires which may cause neurodegeneration and the results imply that the compound suppresses a cue signal of the microglial activation which can induce the brain pathogenesis such as Alzheimer's disease.

외이전기자극이 슬관절질환 노인의 통증과 보행 및 균형에 미치는 영향 (Effects of Auricle Electric Stimulation on Pain, Gait and Balance in the Old Aged with Knee Joint Disease)

  • 서삼기;조운수;이정우;김용남;정진규;황태연
    • The Journal of Korean Physical Therapy
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    • 제20권2호
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    • pp.11-17
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    • 2008
  • Purpose: This study examined the application of electric stimulation to the auricle acupoint (frequency 2 Hz, stimulation level: noxious) with 30 elderly people over 65 years that received treatment in a rural hospital to determine the influence of pain, gait and balance in the aged with knee joint disease. Methods: The subjects were divided into three groups; the degenerative joint diseases (DJD) group (1 male, 9 females), the total knee replacement (TKR) group (1 male, 9 females) and the control group (1 male, 9 females). Auricualr electrical stimulation (AES) was applied with low frequency, high intensity transcutaneous electrical nerve stimulation for 10 seconds per each point. Results: 1. For the change of pain according to AES, there was interaction in the resting period (p<0.001) and gait (p<0.001) and pain of the DJD group and TKR group was decreased. 2. The range of motion (ROM) of the knee joint showed a significant difference in interaction for each group of elderly people (p<0.001) and the ROM for the DJD group and TKR group of elderly people was increased. 3. In the analysis of gait speed changes, there was a significant difference in interaction for each group of elderly people (p<0.001) and for gait speed in the DJD group and TKR group of elderly people. 4. It was found in the change of static balance that there was a significant difference in interaction for each group of elderly people (p<0.01) and balance capacity in the DJD group and TKR group of elderly people was increased. Conclusion: The aged with knee joint disease have pain, and a decreased function of gait and balance. AES was an excellent treatment for control of pain, and an excellent treatment to enhanced joint functions. AES was useful for improving gait and balance due to decreased pain.

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절수에 의한 Mongolian gerbil 신장조직의 변화에 관한 형태학적 연구 (Morphological Study on the Changes in the Kidney of the Water-deprived Mongolian gerbil (Meriones unguiculatus))

  • 김무강;이근좌;정영길;송치원;이경열;박일권;이철호;이기훈;현병화;김길수
    • Applied Microscopy
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    • 제27권4호
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    • pp.433-452
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    • 1997
  • Mongolian gerbil (Meriones unguiculatus) has been as an animal model for studing the neurological diseases such as stroke and epilepsy because of the congenital incompleteries in Willis circle, as well as the investigation of water metabolism because of the long time-survival in the condition of water-deprived desert condition, compared with other species animals. In order to accomplish the this research, first of all another divided the laboratory animals 5 groups of which each group include the 5 animals. In this study were investigated the histological structure in the kidney, measured the plasma osmolalities at the time of sacrifice of indivisual animals, and the body weights every day during water-deprived. The results obtained in this study were summarized as followings: 1. The body weights and decreasing rates of the body weight in water-deprived mongolian gerbil groups were continuosly decreased. 2. The plasma osmolalities were increased from the 5th water-deprived day, after then the gradually increasing reached nearly its equilibrium state at the 10th water-deprived day. 3. The urine volumes were abruptly decreased from the 2th water-deprived day, after then the gradually decreasing patterns were reached nearly its equilibrium state at the 10th day, and stopped the 11th day. 4. In the light microscopical observation of the kidney, glomerular capillary loop thickening, mesangial matrix increasing, sclerosis, glomerular cystic atrophy, interstitial fibrosis, tubular dilatation, mononuclear interstitial inflammation, interstitial mineralization, and hyperplasia of the collecting duct epithelium in the cortex area, were observed from the 10th water deprived day, and the lesions were gradually severe changed as the time lapse. 5. In the electron microscopical findings of the kidney, the degenerative changes of endothelial cell, podocyte and mesangial cell in glomeruli were initially observed on the 10th water-deprived day as well as the degeneration of microvilli and intracellular organelle in the renal tubules.

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중간엽줄기세포의 노화에 따른 후생유전학적 변화 (Epigenomic Alteration in Replicative Senescent-mesenchymal Stem Cells)

  • 오윤서;조광원
    • 생명과학회지
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    • 제25권6호
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    • pp.724-731
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    • 2015
  • 중간엽줄기세포는 성체줄기세포의 한 종류로, 자기재생산능력(self-renwal)과 다분화능(multipotency)을 가지고 있고, 다양한 자양인자(trophic factors)들을 분비한다. 뿐만 아니라, 중간엽줄기세포는 골수, 지방, 탯줄과 같은 조직에서 쉽게 얻을 수 있기 때문에 줄기세포치료에 좋은 도구로 이용되고 있다. 하지만, 줄기세포치료의 효율성을 높이기 위해 추출한 세포의 개체 수를 늘리는 과정에서 중간엽줄기세포는 점차적인 노화를 겪게 되고, 이는 줄기세포 자체의 기능적인 감소를 야기한다. 인체 내에서, 노화된 줄기세포는 조직 내의 항상성 유지에 부정적인 영향 을 미치게 되고, 이러한 상태가 지속되면 대표적인 노인성 질환인 퇴행성 질환의 원인이 된다. 최근 연구들에 의하면 중간엽줄기세포가 노화를 겪을 때, 노화 관련된 DNA 메틸화 패턴의 변화와 히스톤의 변형이 일어남을 확인하였다. 또한, 중간엽줄기세포의 노화에 있어서 DNA 메틸화효소(DNA methyltransferase) 억제제와 히스톤 아세틸화효소(histone deacetylase) 억제제가 부분적으로 노화를 개선하는 효과를 관찰한 연구사례들이 있다. 본 총설에서는, 노화에 따른 후생유전학적인 변화에 의해, 조절되는 노화 관련 유전자들과 중간엽줄기세포의 노화에 대한 연구사례들을 분석하여 서술하고자 한다.

산욕부와 신생아의 가정간호 사례연구 (A Case Study of Home Health Care for Postpartum Women and their Newborns)

  • 전은미
    • 모자간호학회지
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    • 제4권1호
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    • pp.3-11
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    • 1994
  • Presently there is an increasing demand for home health care services due to changes in the demographic structure as a result of an increasing elderly population, socio-economic improvements, and changes in the family structure, as well as the growing number of people with degenerative diseases. In addition to these reasons, rising medical costs and there a shortage of patient beds space in the hospital, particularly since introduction of national medical insurance. There has been an increasing demand for health care health care services. This study was done to identify the basic data for home health care management. It focused on developing client selection criteria, assessment tools, and recording methods. This was accomplished by the researchers visiting the patients in their homes. The research process included preparation investigation, tool development, training of the project researcher, and visiting the clients in their homes. The research tools are as follows : 1. Record development : a) The selection criteria tool for home health care of postpartum women was a structured tool and consisted of four parts. b) The structured assessment tool consisted of a general items, obstetric history, past medical history, methods of feeding, medications taken before admission, laboratory test results, discharge instructions, discharge medications, family tree, economic status, environmental status, a map, health assessment of postpartum women and their newborns. c) The visit note I consisted of the frequency of visits. Visit note II consisted of the date ; nursing problems ; nursing process including the initial assessment ; nursing goal ; visit plan ; postpartum women and their neonate health status, diagnosis, goal, implementation, evaluation, summary, next plan, for visit revision. d) Problem note consisted of the date, problem numbers, nursing diagnosis, problem appearance date problem resolution date. The research results are as follows : 1. Nursing problems : The nursing problems of the postpartum women and their neonates were evaluated by the number of nursing diagnoses and the change in the pattern of nursing diagnosis related to the number of visits. a) Nursing diagnosis The nursing diagnosis was classified according to physical function, psychosocial function, family system maintained function. b) The changes of nursing diagnosis related to the number of visits. As the type of nursing diagnosis changed related to the number of visits the number of nursing diagnoses decreased. 2. Contents of home health care : The content was categorized according to assessment, direct care, counseling, education, family care, reporting to with the attending doctor. The recommendations based on the research results are as follows : 1. Tool development Replication of this study is needed to test the validity of the assessment tools used. 2. Home visit a) Home health care nurses should be licensed and qualified. A referral form from the attending doctor is needed for legal protection of nurses. b) The first home visit need to be within 24 hours of discharge from the hospital to decrease the anxiety of frightened postpartum women. c) When the changes occur in the newborn's status, home health care nurses should consult a pediatrician. Communication within the home healthcare team is essential and needs to consistent and done smoothly. 3. Home health care A Study is required to develop protocols for education of staff and for operation of all aspects of this program.

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CPAE 세포를 이용한 Kaempferol과 Quercetin의 산화스트레스 극복효과 (Protective Effects of Kaempferol and Quercetin on Oxidative Stress in CPAE Cell)

  • 박신영
    • 한국자원식물학회지
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    • 제21권5호
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    • pp.395-401
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    • 2008
  • Flavonoid는 거의 모든 야채와 과일에 함유된 주요한 구성 성분이며 flavonol은 flavonoid 그룹 중 하나로 우리가 식품으로 섭취하는 대표적인 성분으로는 kaempferol과 quercetin이 알려져 있다. kaempferol과 auercetin은 퇴행성질병의 예방에 효과가 있다고 알려져 있어 식품 첨가물로 사용되고 있다. 본 연구의 목적은 항산화제로도 알려진 kaempferol과 quercetin을 이용하여 다양한 농도에서의 소의 폐혈관내피 세포주에 대한 각각의 산화스트레스 보호효과와 두 가지 물질의 동시 처리 시에 나타날 수 있는 상승효과를 밝히기 위함이다. 1 mM의 $H_{2}O_{2}$를 처리하여 산화스트레스를 가한 세포나 가하지 아니한 세포에서나 모두 kaempferol과 quercetin의 처리로 세포의 활성도가 높았다. 그러나 특히 산화스트레스를 가한 세포에서 항산화물의 산화스트레스 극복효과가 현저하게 나타났다. 항산화물의 농도가 고농도의 경우 오히려 증가된 세포활성도가 저하되는 반응을 보여 너무 높은 농도의 처리는 오히려 항산화효과를 억제할 수 있음을 알 수 있었다. 일반적으로 우리가 섭취하는 식품에는 kaempferol과 quercetin이 함께 포함되어 있으므로 이 두 가지 물질을 일정 비율로 서로 섞은 다음 산화스트레스 처리와 함에 처리하여 조사한 결과 단독으로 처리한 결과와 달리 고농도 조건에서도 세포활성도가 아주 높게 나타났다. 이상의 결과에서 항산화물은 생체에서 일어날 수 있는 많은 산화스트레스 상태를 완화시킬 수 있으나 가장 우수한 효능을 나타낼 수 있는 적정 농도의 조사가 중요하며 특히 각각의 항산화물을 단독으로 사용하는 것 보다 함께 사용하는 것이 상승효과를 나타낼 수 있음을 알 수 있었다.

수중운동과 타이치운동 후 여성 골관절염 환자의 근력변화 (Comparison of Muscle Strength for Women with Osteoarthritis after 8-week Tai-Chi Exercise and Aquatic Exercise)

  • 이혜영;이은옥;송라윤
    • 근관절건강학회지
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    • 제12권2호
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    • pp.155-165
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    • 2005
  • Arthritis is one of the most common chronic degenerative joint disease in elderly. Osteoarthritis is a widespread, slowly developing disease, with a high prevalence increasing with age in women. The large joints mostly involved by the disease are the knees. But there are no treatments available that cure the underlying process of osteoarthritis diseases. Physical exercise helps in increasing cartilage nutrition and remodeling, increases the synovial blood flow, decrease swelling, and improves muscle strength. Thus, exercise has been suggested as an important nursing strategy in osteoarthritis. Purpose: The purpose of this study were to compare muscle strength between Tai-Chi exercise and aquatic exercise for women with knee osteoarthritis. Methods: A quasi-experimental study with pretest and posttest measures was used. The study subjects were those who had been enrolled in a community health center, and agreed to participate in the study for eight weeks, signed the consent form, and obtained the physicians approval. The study dropout rates were 13.2% with the final study subjects of 17 on Tai-Chi exercise, 16 on aquatic exercise program. The collected data were analyzed using SPSS for Window (version 12.0). Independent sample t-test and paired t-test was performed to compare of muscle strength for women with osteoarthritis after 8-week Tai-Chi exercise and aquatic Exercise. Results: The homogeneity tests of demographic characteristics and study variables at the pretest data revealed no significant differences between two groups. After 8-week Tai-Chi and aquatic exercise, there was significant result in pre-post test comparison on muscle strength on Tai-Chi group, but no significant in aquatic group. There were no significant differences of knee extensor (p=.078), and hand grip(p=.118) in group comparisons on muscle strengths. But there were significant differences of knee flexor(p=.024). Conclusion: Tai-chi exercise was effective in improving knee flexor. So, it seems that Tai-chi exercise may be more suitable for aquatic exercise in osteoarthritis exercise programs. Further studies with other comparisons in physical and psycho social outcomes are necessary to confirm the more effects of exercise.

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