• Clinical and Experimental Pediatrics
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• 제50권3호
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• pp.306-310
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• 2007

제한성 피부병증(Restrictive dermopathy)은 상염색체 열성으로 유전되는, 매우 드문 유전성 피부질환으로, 1986년 처음 기술되었다. 임상증상으로는 피부가 강직성, 긴장성병변을 보이며, 이로인해 운동의 제한, 관절의 구축 등이 생긴다. 매우 작고 둥근 입 모양, 양안격리, 소하악증 등을 동반한 특징적인 얼굴기형과 폐저형성증, 커다란 대천문, 쇄골의 이형성 등을 동반하기도 한다. 정확한 병인은 알려져 있지 않으며, 지금까지 50례 정도 보고되고 있으나, 국내에는 아직 보고가 없다. 저자들은 이 환아와 똑같은 외형의 사산아를 출산한 경력이 있는 산모에서, 제태연령 31주에, 출생체중 1.1 kg로 태아곤란증 때문에 제왕절개로 출생한 미숙아가 출생 직후부터 호흡곤란과 청색증을 보였고, 작은 입 모양에 소하악증과 얇고 경직된 피부와 사지 관절의 구축성 변형 등을 보였으며, 체간과 사지의 일부에 피부가 벗겨져 나간 소견을 나타내어, 피부조직검사 결과 상피조직의 비후성 미란, 얇은 진피층, 피부부속기관의 미발달소견, 탄성섬유의 현저한 감소가 관찰되는 전형적인 제한성 피부병증 1례를 경험하였기에 보고하는 바이다.

• Annals of Clinical Neurophysiology
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• 제12권1호
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• pp.27-31
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• 2010

Ullrich disease is a rare congenital muscular dystrophy, which is clinically characterized by generalized muscular weakness, distal joint hyperextensibility, proximal joint contractures, protuberant calcanei and high-arched palate. The disease is caused by collagen VI deficiency in interstitum and/or sarcolemma of skeletal muscles, for which mutations either in COL6A1, COL6A2 or COL6A3 are responsible. We report a girl who presented with symptoms typical of Ullrich disease, in whom the diagnosis was confirmed by immunohistochemistry and molecular genetic study.

• Clinics in Shoulder and Elbow
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• 제1권1호
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• pp.72-77
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• 1998

We treated 5 elbows with post-traumatic flexion contractures (mean contracture: 51 degrees) by arthroscopic anterior capsular release and post-operative alternative flexion and extension splint. Each elbow had been resistant to at least six months of conservative therapy. An incongruent ulno-humeral articulation was considered to be a contraindication to this procedure. All patients complained of the residual deformity and some functional deficit. All patients, after failure of non-operative therapy, desired a operative treatment. At follow-up(mean 21.8 months), there was a mean post-operative contracture of 19 degrees, which is within a functional range of motion. So we conclude that arthroscopic capsular release in selected patients is reasonable alternative to open release.

• Annals of Clinical Neurophysiology
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• 제20권2호
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• pp.89-92
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• 2018

Ullrich congenital muscular dystrophy (UCMD) is caused by mutations in one of three genes encoding collagen VI. Although UCMD usually shows an early onset, progressive weakness, contractures and hyperlaxity of the joints, and respiratory failure, it is well known to exhibit a wide spectrum of clinical severities. The severities of the phenotypic subtypes are mainly divided according to the ambulation status. We report a patient with the early-severe phenotype of UCMD who was diagnosed by the detection of novel recessive mutations in COL6A1.

• 대한물리치료과학회지
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• 제8권1호
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• pp.727-734
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• 2001

Contracture is defined as the lack of full passive range of motion resulting from pint, muscle or soft tissue limitationprolonged Pint immobilization will result in stress and stretch deprivation and gradual development of contracture. the tissue changes caused by immobilization may be categorized as cellular modeling, ground substance and collagen response, and tissue response. contracture can be divided into three categories according to the anatomical location of pathological changes :arthrogenic, myogenic, soft tissue contractures Therapeutic approach of contracture is thermal or cold agents application, stretch or restoration of length, traction, manipulation, mobilization positioning and restoration of function. The purpose of this article is to review current concepts of mechanical properties and synthesis of collagen tissue and the underlying pathomechanics as it relates to evaluation and treatment of contracture.

• 한국전문물리치료학회지
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• 제2권2호
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• pp.85-97
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• 1995

When applying FES to patients, proper evaluation must be performed prior to treating patient. Patients with thoracic lesions between $T_4{\sim}T_{12}$ are suitable for FES. However, these patients must have excitability of the leg muscles. Thus, excitability testing is an essential part of the screening program(stimulation at 80V gives a response). Before standing or walking is attempted the patients must perform restrengthening exercise, so that the Quadriceps muscle group minimum strength is 40 Nm (corresponding to a manual grade of F+ to G). After that walking and standing can be attempted. The effects of FES are as follows: prevents pressure sores; development and maintenance of muscle properties; prevents disuse atrophy and contractures.

• The Korean Journal of Pain
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• 제9권1호
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• pp.232-234
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• 1996

For surgical Treatment of spastic deformities of the foot, selective peripheral neurotomies were introduced. These neurotomies utilize microsurgical techniques and intraoperative electrical stimulation for better identification of the function of the fascicles constituting the nerve. Selectivity is required to supress the excess of spasticity without excessive weakening of motor strength and without producing exaggerated amyotrophy. To achieve this goal, minimum one fourth of the motor fibers must be preserved. Neurotomies may be indicated when spasticity is localized to muscle or muscle groups supplied by a single or a few peripheral nerves that are easily accessible. To help the surgeon decide if neurotomy is appropriate, temporary local anesthetic block of the nerve with bupivacaine can be useful. Such a test can determine if articular limitations result from spasticity, musculotendinous contractures, or articular ankyloses because only spasticity is decreased by the test. In additon, these tests give the patient a chance to appreciate what to expect from the operation.

• Clinics in Shoulder and Elbow
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• 제9권1호
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• pp.14-19
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• 2006

The patient with a posttraumatic stiffness frequently has a history of prolonged immobilization after a traumatic event. Adhesions in the extraarticular humeroscapular motion interface may be present independently or in combination with intraarticular capsular contractures. A through history and physical examination usually reveal the cause and anatomic location of stiffness. Passive stretching exercise program is effective as a first line treatment, but manipulation under anesthesia is usually not effective because of potential complication such as fracture, tendon rupture and neurologic injury. The humeroscapular motion interface adhesion can be released either open or arthroscopically. The combined technique coupled with an aggressive rehabilitation program can provide more effective motion restoration and pain relief.

• 대한구순구개열학회지
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• 제11권1호
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• pp.31-36
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• 2008

The variations of cleft lip deformities imposed the difficulty to the surgical correction for them. Straight line technique for cleft lip surgery has been ignored quite long since other techniques were developed. Initially the straight line technique was introduced and widely accepted because it is simple and easy to perform during the period of no adequate anesthetics. But it was abandoned for its several shortcomings such as tighten lip, vermilion notching, anatomical distortion, and wound contractures. Recently, some groups advocated the usefulness of straight line technique which has a significant modification from its original form. Additionally the variable degree of cleft lip deformity allows simple straight line closure for those patients. Here a case of simple straight line technique was presented and discussed for its reliability and plausible results as well.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제48권3호
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• pp.178-181
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• 2022

Williams-Beuren syndrome (WS) is a rare genetic disorder that results from microdeletion at chromosome 7, which harbors the elastin gene. Clinical findings include arteriopathy, aortic stenosis, hypertension, and laxities and contractures in different joints throughout the body. While many components of the temporomandibular joint (TMJ) normally contain elastin, there are few reports on TMJ manifestations of WS. This study reports a TMJ ankylosis case in a WS patient and shares insight on a possible link between development of TMJ ankylosis and elastin deficiency in WS patients. A WS patient presented with bilateral TMJ ankylosis and was successfully treated with TMJ gap arthroplasty. Hypermobility of TMJ and lack of elastin in retrodiscal tissue can induce anterior disc displacement without reduction. Due to lack of elastin, which has a significant role in the compensatory and reparatory mechanism of TMJ, WS patients might be prone to TMJ ankylosis.