• 제목/요약/키워드: dystrophy

검색결과 164건 처리시간 0.031초

희유한 기형치의 일례 (A rare case of Malformed teeth)

  • 서영규;황성명
    • 대한치과의사협회지
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    • 제4권1호
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    • pp.37-39
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    • 1963
  • The macroscopical and histological findings on a rare of malformed teeth occured in the left first Molar of upper jaw of the sixteen years old boy who is examined at the dental clinic of Soodo medical college are summerized as follows. 1.Occulusal surfare of the malformed teeth formed as circumvallated hard tissue wall and root are hypertrophical type. 2. The tissue of malformed teeth occured dystrophy of calcication distavance.

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근이양증 가계에서의 PEP-PCR을 이용한 착상전 유전자진단 (Preimplantation Genetic Diagnosis Using Primer Extension Preamplification in Duchenne/Becker Muscular Dystrophy(DMD/BMD) Families)

  • 최수경;이은호;이호준;전진현;강인수;백은찬;류현미;전종영
    • Clinical and Experimental Reproductive Medicine
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    • 제23권1호
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    • pp.109-114
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    • 1996
  • General PCR technique alone has a limitation for preimplantation genetic diagnosis(PGD) using single blastomere. Recntly developed primer extension preamplification(PEP) technology amplifies the whole genome and thus, simultaneous multiple locus analysis became possible. In this study, we report the efficacy of PEP-PCR for PGD in three muscular dystrophy carriers undergoing IVF-ET. A total of 37 blastomeres were obtained from 40 embryos at six to eight cell stage in three IVF cycles in two DMD and one BMD carriers. Whole genome from single blastomeres were amplified using I5-base oligonucleotide random primers. PCR amplified products of exon 45 in the dystrophin gene and alphoid X/Y loci for gender determination were analysed by 2% metaphor gel electrophoresis. A total of 37 PEP-PCR replicates from 37 single blastomeres from 40 embryos and 37 blanks were performed. We obtained the reliable results for exon 45 and alphoid X/Y. Transfer of female embryos and unaffected male embryo was attempted in three couples. Unfortunately, pregnancy was not achieved in these cases. PEP-PCR is a reliable and efficient PGD method in multiple locus analysis using single blastomere.

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단일 유전자 이상에 대한 착상전 유전진단을 위한 단일 세포 PCR 방법의 신뢰성 (Reliability of the Single Cell PCR analysis for Preimplantation Genetic Diagnosis of Single Gene Disorders)

  • 최혜원;이형송;임천규;궁미경;강인수;전진현
    • Clinical and Experimental Reproductive Medicine
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    • 제32권4호
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    • pp.293-300
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    • 2005
  • 연구목적: 단일 유전자 이상에 대한 착상전 유전진단을 성공적으로 시행하기 위해서는 효과적이고 신뢰도가 높은 PCR 방법의 확립이 중요하다. 본 연구에서는 alkaline lysis와 duplex nested PCR 방법을 단일 림프구와 할구의 유전자 분석에 적용하여 그 효용성을 확인하고자 하였다. 재료 및 방법: 단일 유전자의 이상이 확인된 Duchenne muscular dystrophy (DMD), ornithine transcarbamylase (OTC) 결핍증과 epidermolysis bullosa (EB) 가계의 대상자들에서 채취한 단일 림프구와 공여 받은 배아의 할구를 이용하여 각각 PCR, restriction fragment length polymorphism (RFLP)와 direct DNA sequencing 분석을 시행하였다. 이러한 분석에서 유전자 증폭률 (amplification rate)과 두개의 allele 중에서 하나의 allele이 증폭되지 않는 allele drop-out (ADO) 빈도에 대해 살펴보았다. 결 과: 단일 림프구와 할구를 이용한 PCR 방법의 유전자 증폭률은 DMD에서 91.1%와 81.8%, OTC 결핍증에서 96.0%와 78.1%, EB에서 91.3%와 90.0%를 각각 나타냈으며, ADO 빈도는 OTC 결핍증에서 13.3%, EB에서 16.8%로 관찰되었다. 결 론: 본 연구에서 적용한 alkaline lysis와 duplex nested PCR 방법은 단일 유전자에 대한 착상전 유전진단에 성공적으로 적용할 수 있는 방법으로 생각되며, ADO 빈도를 최소화할 수 있는 효율적인 방법의 개발에 대한 지속적인 연구가 필요하다.

Mechanisms of Myotonic Dystrophies 1 and 2

  • Lubov, Timchenko
    • The Korean Journal of Physiology and Pharmacology
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    • 제9권1호
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    • pp.1-8
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    • 2005
  • Myotonic Dystrophies type 1 and 2 (DM1/2) are neuromuscular disorders which belong to a group of genetic diseases caused by unstable CTG triplet repeat (DM1) and CCTG tetranucleotide repeat (DM2) expansions. In DM1, CTG repeats are located within the 3' untranslated region of myotonin protein kinase (DMPK) gene on chromosome 19q. DM2 is caused by expansion of CCTG repeats located in the first intron of a gene coding for zinc finger factor 9 on chromosome 3q. The CTG and CCTG expansions are located in untranslated regions and are expressed as pre-mRNAs in nuclei (DM1 and DM2) and as mRNA in cytoplasm (DM1). Investigations of molecular alterations in DM1 discovered a new molecular mechanism responsible for this disease. Expansion of un-translated CUG repeats in the mutant DMPK mRNA disrupts biological functions of two CUG-binding proteins, CUGBP and MNBL. These proteins regulate translation and splicing of mRNAs coding for proteins which play a key role in skeletal muscle function. Expansion of CUG repeats alters these two stages of RNA metabolism in DM1 by titrating CUGBP1 and MNBL into mutant DMPK mRNA-protein complexes. Mouse models, in which levels of CUGBP1 and MNBL were modulated to mimic DM1, showed several symptoms of DM1 disease including muscular dystrophy, cataracts and myotonia. Mis-regulated levels of CUGBP1 in newborn mice cause a delay of muscle development mimicking muscle symptoms of congenital form of DM1 disease. Since expansion of CCTG repeats in DM2 is also located in untranslated region, it is predicted that DM2 mechanisms might be similar to those observed in DM1. However, differences in clinical phenotypes of DM1 and DM2 suggest some specific features in molecular pathways in both diseases. Recent publications suggest that number of pathways affected by RNA CUG and CCUG repeats could be larger than initially thought. Detailed studies of these pathways will help in developing therapy for patients affected with DM1 and DM2.

간헐적 양압호흡기를 이용한 호흡운동치료 후 근 이영양증 환자의 폐기능 변화 (Changes in Pulmonary Functioning After Respiratory Excercise Treatment in Patients With Progressive Muscular Dystrophy)

  • 김기송;이규완;오덕원
    • 한국전문물리치료학회지
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    • 제6권3호
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    • pp.72-81
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    • 1999
  • The purpose of this study was to identify the differences in pulmonary functioning after respiratory exercise with IPPB (Intermittent Positive Pressure Breather) in patients with progressive muscular dystrophy (PMD). The subjects were 46 patients with PMD who were admitted to the Rehabilitation Medicine Department of Youngdong Severance Hospital. The subjects were assigned into one of 2 groups. The control group received comprehensive treatments such as ROM exercise, deep breathing exercise, moist hot packs, and ultrasound twice a day while admitted at the Rehabilitation Medicine Department. Unlike the control group, the subjects at the experimental group received respiratory exercise treatment with IPPB. The subjects were admitted for 10~19 days, and the average length of hospital stay was 12.2 days. Pulmonary functioning was evaluated at admission and discharge by SENSOR MEDICS. The data were analyzed by a paired t-test and a independent t-test. The results were as follows: 1) The change of each parameter of pulmonary function tests were significantly improved in all groups after respiratory exercise treatment during admission (p<0.05). 2) By comparing the change of each parameter of pulmonary function tests between the experimental group and control group, the parameters of vital capacity (VC), forced vital capacity, forced vital capacity predicted (FVCP) and forced expiratory volume in 1 second (FEV1) were significantly improved in the experimental group which had received the pulmonary exercise treatment with IPPB (p<0.05). In conclusion, this study suggests that the pulmonary exercise treatments with IPPB facilitated improvement in the pulmonary functioning for the PMD patients during their hospital stay.

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반사성 교감신경계 기능장애 증후군(RSDS)의 손 3상 골스캔 소견 (Three-Phase Bone Scintigraphy in Reflex Sympathetic Dystrophy Syndrome of the Hand)

  • 안명임;박정미;박영하;김성훈;정수교;신경섭;박용휘
    • 대한핵의학회지
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    • 제25권1호
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    • pp.81-86
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    • 1991
  • Reflex sympathetic dystrophy syndrome (RSDS), known also as Sudeck's atrophy, is an uncommon disorder recognized by its distinctive symptom complex consisting of pain and tenderness, vasomotor instability, swelling, and dystrophic skin changes and radiologic changes. The present study has been carried out to prospectively establish scintigraphic diagnostic criteria for RSDS using three-phase radionuclide bone scintigraphy (TPBS). In addition, the usefulness in the evaluation of treatment of RSDS was assessed. Patients included were 6 men and 7 women with the age ranging from 25 to 63 years (average 47 years). Diagnosis was based on typical clinical symptoms and signs as described above. Associated clinical conditions in these patients were cerebral infarction (4 patients), lung cancer (2 patients), trauma (1 patient), lymphoma (1 patient), and unknown cause (5 patients). All patients showed diffuse radionuclide accumulation in juxtaarticular region on the delayed static image and 11 patients showed diffusely increased activities also on scintiangiogram and blood-pool image. Fillow-up TPBS after corticosteroid therapy in 4 patients revealed near normal return of abnormal radionuclide accumulations in the affected hand. TPBS is an useful test for the diagnosis of as well as the evaluation of the therapeutic effects of RSDS.

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구강점막의 Pachyonychia Congenita (Pachyonychia congenita of the oral mucosa)

  • 심영주;윤정훈;강진규
    • Journal of Oral Medicine and Pain
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    • 제38권2호
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    • pp.103-108
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    • 2013
  • Pachyonychia congenita는 케라틴 유전자의 돌연변이로 발생하며, 상염색체 우성으로 유전되는 매우 드문 유전성 피부질환이다. 주로 손톱과 발톱, 발바닥, 구강점막 등에 이환되며, 주된 증상으로는 손발톱구만증, 손과 발의 과각화증, 소포성 각화증, 구강점막의 백색각화증 등이 있다. 구강점막의 조직학적 소견으로는 과각화증, 극세포증, 상피세포의 핵 주위 세포질내 공포 형성이 나타난다. 피부병소의 치료법으로는 수술적 요법, 기계적인 방법의 치료, 화학적 요법, 약물요법 등이 이용되고 있으며, 구강병소는 대개 치료를 필요로 하지는 않지만 환자의 불편함이 발생하면 대증요법을 시행한다. 피부병소와 구강병소가 동반되는 환자의 경우 면밀한 관찰을 통해 손톱과 발톱의 이영양증, 발바닥의 과각화, 구강점막의 백색각화증 등의 특징적인 병소가 나타나면 조직 생검을 시행하여 이를 확진할 수 있어야 하며, 환자가 호소하는 불편감에 따른 적절한 치료를 시행하여야 한다.

Rainbow Power 요법 시술이 퇴행성 슬관절염에 미치는 임상 효능연구 (Clinical Study on Effect of Rainbow Power Therapy on Osteoarthritis in Knee Joint)

  • 성현제;김이화;황재옥;류충열
    • Korean Journal of Acupuncture
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    • 제20권4호
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    • pp.85-98
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    • 2003
  • Objective : This study is designed to find out the effects of Rainbow Power therapy on knee joint with osteoarthritis. Methods : Patient with the osteoarthritis of knee joints are divided into Rainbow Power therapy group(20 people) and none-Rainbow Power therapy group(20 people). After treatment, we evaluated the effect per each group. Results : 1. Fifty and Sixty aged patients were the most in the Rainbow Power group(30% each) and sixty aged patients were the most in the None-Rainbow Power group(45%). 2. In the both groups, 1-3 years duration of disease was the most(40%, 45% each). 3. In the none-Rainbow Power group, patients improved (Lysholm score : $49.20{\pm}11.54{\rightarrow}63.90{\pm}9.54$, p<0.05), but, did not improved in the part of squatting and dystrophy. In the Rainbow Power group, patients improved(Lysholm score : $46.55{\pm}9.89{\rightarrow}80.90{\pm}13.78$, p<0.05), but, did not improved only in the part of dystrophy. 4. The effects of treatment by VNRS were follow : After treatment, $4.10{\pm}1.22$ in Rainbow Power Group and $4.55{\pm}1.15$ in none-Rainbow Power group. 5. The effects of treatment by nine points scale were follow : In the Rainbow Power group, the Excellent was 7 cases(35%), the Good was 9 cases(45%), the Fair was 4 cases(20%) and there was no Poor. The Excellent was 6 cases(30%), the Good was 8 cases(40%), the Fair was 6 cases(30%) and there was no Poor.

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