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한국인 Charcot-Marie-Tooth 환자에서 Myelin Protein Zero (MPZ) 유전자 돌연변이 분석-임상 및 전기생리학적 특성-
최병옥,정기화,조현지,박기덕,이광수,김승민,선우일남 대한신경과학회 2005 대한신경과학회지 Vol.23 No.2
Background: Mutations in the myelin protein zero (MPZ) gene, which is located on chromosome 1q21-q22, is present in Charcot-Marie-Tooth disease type 1B (CMT1B), CMT type 2, Dejerine-Sottas syndrome, and congenital hypomyelination neuropathy. It is proposed that the nature and position of the MPZ mutations mainly determine the axonal and demyelinating phenotypes. In this study, we investigated to determine the clinical and electrophysiological characteristics in CMT patients with mutations in the MPZ gene. Methods: We examined mutations of MPZ, in 62 Korean families diagnosed as having CMT disease. Mutations were confirmed by through both strands sequencing. Nerve conduction studies were carried out in CMT patients having each mutation. Results: The three mutations (Asp118Asn, c.449-1G>T (3'-splice site), Lys236Glu), determined to be novel, were not detected in the 105 healthy controls. The mutation frequency of MPZ was similar as those found in several European populations. Electrophysiologically, 3'-splice site mutation (449-1G>T) showed the conduction block and moderate slowing nerve conduction velocities like that of CMT1B. However, the other mutations represented the electrophysiological features of CMT type 2. Conclusions: We report the identified three novel MPZ mutations in Korean CMT patients and the phenotype-genotype correlations based on nerve conduction studies.
Cx32 유전자에서 새로이 발견된 돌연변이 V136A와 EGR2 유전자 돌연변이 R359W를 보인 Charcot-Marie-Tooth 환자
최병옥,정기화,김승민,박기덕,이미선,신상희,이지용,선우일남 대한신경과학회 2004 대한신경과학회지 Vol.22 No.1
Mutations of the CMT genes develop a variety of distinct phenotypes. Cx32 gene mutations cause the X-linked form of CMT disease, and mutations in EGR2 are associated with CMT type 1, DSS, and congenital hypomyelination neuropathy. Her parents, grandmother and sister did not show the V136A mutation in Cx32. We report the first CMT patient with EGR2 and Cx32 mutations.
X-linked Charcot-Marie-Tooth 환자에서 새로이 발견된 Connexin32 유전자의 Missense 돌연변이 Cys168Arg
최병옥,선우일남,박기덕,김용재,최경규,이미선,황정희,정기화 대한신경과학회 2004 대한신경과학회지 Vol.22 No.1
X-linked Charcot-Marie-Tooth (CMTX) disease is a clinically heterogeneous hereditary motor and sensory neuropathy. The X-linked inheritance showed an absence of male-to-male transmission and a more severe disease phenotype in affected males compared to that in affected female. A missense mutation, Cys168Arg, was found in connexin 32 gene (Cx32/GJB1) from a patient with CMTX neuropathy. The familial history of this patient also suggested that the disease is X-linked CMT. Thus, we report a CMTX family having the novel Cys168Arg mutation in the Cx32 gene.
새로 발견된 PMP22 유전자의 Frame Shift 돌연변이(Ala106fs)를 보인 Charcot-Marie-Tooth 1A
최병옥,정기화,박기덕,최경규,김승민,김용성,이미선,선우일남 대한신경과학회 2004 대한신경과학회지 Vol.22 No.6
Charcot-Marie-Tooth disease (CMT) with hearing impairment is a clinically distinct rare entity described in a few families, usually with a demyelinating neuropathy. The molecular basis for this disease has not been established with certainty. Audiological evaluation has revealed auditory neuropathy in the affected individual. We report a CMT1A family with sensorineural hearing loss and a novel frame shift mutation Ala106fs (318delT) in the PMP22 gene.
Cx32 유전자 돌연변이를 보인 CMTX와 PMP22 유전자 중복을 보인 CMT1A 환자들의 임상 및 전기생리학적 특성 비교
최병옥,정기화,박기덕,김승민,신상희,선우일남 대한신경과학회 2004 대한신경과학회지 Vol.22 No.3
Background: Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous disorder. Connexin32 (Cx32) gene mutations on Xq13.1 cause the X-linked form of CMT disease, and PMP22 gene duplication on 17p11.2-p12 causes CMT1A. The aim of the present study is to determine the clinical and electrophysiological characteristics between X-linked CMT patients with Cx32 missense mutations and CMT1A patients with PMP22 duplications. Methods: We screened for 17p11.2-p12 duplication, and for point mutations in Cx32 genes of 48 Korean CMT families. Both neurological examination and nerve conduction studies were performed in all patients. Results: Frequency of CMTX (6.3%) in our study was similar to Japanese, and was lower than those in European peoples. CMTX patients displayed no man-to-man transmission, and had cranial nerve involvement. CMTX patients showed more wide range of motor and sensory nerve conduction velocities than CMT1A patients. We found one family with axonal neuropathy and two families with demyelinating neuropathy in CMTX patients. Conclusions: Our findings suggest that mutations in Cx32 are probably less frequent in Asian CMT patients than European patients, and CMTX neuropathy is intermediary between CMT1 and CMT2. In addition, inheritance pattern and cranial nerve involvement are useful in differentiating CMTX from CMT1A with duplication.
최병옥 대한물리치료사학회 1996 대한물리치료과학회지 Vol.3 No.2
Isokinetic exercise is dynamic, but the spped of movement must be regulated so that the resistance is in ratio to the force applied at each point throughout the full range of motion. The purpose of this study is to comparise with trunk flexors & extensors of isokinetic evaluation of pre-exercise and post-exercise in operated laminectomy & disectomy patients. 7 subjects were examined at 120˚/sec and 60˚/sec each 15 days. The results were as follows; 1. Peak torque of extensors on 60˚/sec showed significant difference statistically(p<0.05), but peak torque of flexors on 60˚/sec showed no significant difference statistically. 2. Trunk flexors/extensors ratio of peak torque of 60˚/sec showed no significant difference statistically. 3. Peak torque % B.W of extensors on 60˚/sec showed significant difference statistically(p<0.05), but peak torque % B.W of flexors on 60。/sec showed no significant difference statistically. 4. TAE of extensors on 60。/sec showed significant difference statistically (p<0.05), but TAE of flexors on 60˚/sec showed no significant difference. 5. Total work of flexors & extensors on 60˚/sec showed significant difference statistically.(p<0.05). 6. Average power of flexors & extensors on 120˚/sec showed significant difference statistically(p<0.05). 7. Endurance ratio of flexors & extensors on 120˚/sec showed no significant difference statistically. 8. Set total work of flexors & extensors on 120˚/sec showed significant difference statistically(p<0.05). 9. TAE of extensors on 120˚/sec showed significant difference statistically(p<0.05), TAE of flexors on 120˚/sec showed no significant difference statistically. 10. Total work of flexors & extensors on 120˚/sec showed significant difference statistically(p<0.05).
최병옥,김병호 한국세라믹학회 2003 한국세라믹학회지 Vol.40 No.2
$Sr_{0.9}Bi_{2.1}Ta_2O_9$thin films were deposited on $IrO_2$ electrode by spin coating method using photosensitive sol-gel solution. To ensure the UV-exposure effect on SBT thin films, UV irradiated films and non-UV irradiated films were analyzed by XRD, SEM. As a result, UV-irradiation on SBT thin films promoted grain growth of SBT compared with no UV irradiation. In case of the UV irradiated films annealed at$740{\circ}C$for 1 h in an oxygen ambient, the 2Pr value and Pr/Ps at${pm}5$V were$11.48{mu}C/cm^2$and 0.53, respectively. 2Pr values of the UV irradiated SBT thin films at$660-740{circ}C were approximately 12% higher than those of non-UV irradiated thin films. 광감응성 sol-gel 용액을 사용하여 spin coating법으로 $IrO_2$전극 위에 $Sr_{0.9}$$Bi_{2.1}$$Ta_2$$O_{9}$ 박막을 성막하였다. UV 노광이 SBT 박막에 어떤 영향을 미치는지 알아보기 위해 UV 노광을 한 시편과 하지 않은 시편을 XRD 및 SEM로 분석한 결과 UV 노광이 SBT 결정성장을 촉진함을 확인할 수 있었다. UV 노광을 하고 $740^{\circ}C$ 산소분위기에서 1시간 로열처리 한 SBT 박막의 경우 2Pr 값은 5V 인가전압하에서 11.48$\mu$C/$ extrm{cm}^2$, Pr/Ps 값은 0.53이었고 660-$740^{\circ}C$에서 UV 노광을 하지 않은 시편에 비해 UV 노광을 한 시편들에서 약 12% 높은 2Pr 값을 얻었다.
슬개대퇴관절의 해부학과 생체역학에 관한 문헌적 고찰 : Anatomy and Biomechanics of the Patellofemoral Joint
최병옥 대한물리치료사학회 2001 대한물리치료과학회지 Vol.8 No.2
The patellofemoral joint is formed by the articulation of the patella and femoral condyles in the trochlear groove. The cxmplexity of the patellofemoral joint is magnified by the fact that the tibiofemoral pint works in conjunction with the patellofemoral joint. Additional1y, other joints such as the subtalar joint. hip and sacroiliac joints indirectly contribute to the function of the patenofemoral joint. This Pint has little bony stability. Soft tissue surrounds the joint to increase stability. The patellofemoral joint increases the mechanica1 advantage of the quadriceps muscles and resists mechanical loading. In patellofemoral dysfunction, patellofemoral contact pattern is disrupted, leading to excessive compression at the joint. When you treat the patellofemoral dysfunction, you should evaluate anatomic and biomechanic components and find factors of patellofemoral dysfunction. Hamstring tightness, weakness of VMO and. tightness of lateral retinaculum lead to flexed knee and abnormal patella tracking and patellofemoral joint reaction force and patellofemoral dysfunction. A through understanding of the anatomy and biomechanics may assist the clinician in the recognition and treatment of patients with patellofemoral pain, Therefore physical therapists should apply modality as well as therapeutic exercise, stretching and strengthening. In this paper, I will discuss the germane anatomical structures and biomechanics of the patellofemoral joint.