• Journal of Genetic Medicine
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• 제13권1호
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• pp.46-50
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• 2016

Achondroplasia and hypochondroplasia are the two most common forms of short-limb dwarfism. They are autosomal dominant diseases that are characterized by a rhizomelic shortening of the limbs, large head with frontal bossing, hypoplasia of the mid-face, genu varum and trident hands. Mutations in the fibroblast growth factor receptor-3 (FGFR3) gene, which is located on chromosome 4p16.3, have been reported to cause achondroplasia and hypochondroplasia. More than 98% of achondroplasia cases are caused by the G380R mutation (c.1138G>A or c.1138G>C). In contrast, the N540K mutation (c.1620C>A) is detected in 60-65% of hypochondroplasia cases. Tests for common mutations are often unable to detect the mutation in patients with a clinical diagnosis of hypochondroplasia. In this study, we presented a case of familial hypochondroplasia with a rare mutation in FGFR3 identified by next generation sequencing.

• 셀메드
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• 제5권2호
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• pp.10.1-10.3
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• 2015

Arthritis is a major cause of joint pain, stiffness, and subsequent disability which adversely affects quality of life. Seriously, it can lead to long term social and psychological effects including loss of independence, depression, and anxiety. Arthritis is usually treated with joint replacement surgery or medications. However, the artificial joint is temporary and pharmacological measures have side effects, such as addiction or hypersensitivity. Thus, orthotics has been developed to improve arthritis as a nonpharmacological measure. The increased regional load across compartments of articular cartilage is an important factor in the cause of the arthritis. Mubal$^{(R)}$, a clinical shoe insole, has a sliding function to help people to walk straight and realign the body balance. The slide of Mubal$^{(R)}$ reduces the knee joint loading in patients with arthritis. In addition, pumping function of Mubal$^{(R)}$ can mitigate arthritis by stretching the squashed nerves from lumbar to cervical vertebral and actively circulating blood of pelvic limb. In addition, Mubal$^{(R)}$ could help to stimulate the growth plate. Therefore, Mubal$^{(R)}$ can be used for the child with short stature as well as patients with arthritis.

• The Journal of Korean Physical Therapy
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• 제31권4호
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• pp.212-215
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• 2019

Purpose: This study examined whether there is a difference in motor learning through short-term repetitive movement practice in stroke survivors with a unilateral brain injury compared to normal elderly participants. Methods: Twenty-six subjects who were divided into a stroke group (n=13) or sex-aged matched normal elder group (n=13) participated in this study. To evaluate the effects of motor learning, the participants conducted a tracking task for visuomotor coordination. The accuracy index was calculated for each trial. Both groups received repetitive tracking task training of metacarpophalangeal joint for 50 trials. The stroke group performed a tracking task in the upper extremity insi-lesional to the damaged hemisphere, and the normal elder group performed the upper extremity matched for the same side. Results: Two-way repetitive ANOVA revealed a significant difference in the interactions ($time{\times}group$) and time effects. These results indicated that the motor skill improved in both the stroke and normal elder group with a tracking task. On the other hand, the stroke group showed lesser motor learning skill than the normal elder group, in comparison with the amount of motor learning improvement. Conclusion: These results provide novel evidence that stroke survivors with unilateral brain damage might have difficulty in performing ipsilateral movement as well as in motor learning with the ipsilateral upper limb, compared to normal elderly participants.

• 대한물리치료과학회지
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• 제29권3호
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• pp.21-28
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• 2022

Background: Hamstring shortness results in the inappropriate activation of the quadriceps femoris because of the loss of the reciprocal inhibition mechanism. The purpose of this study was to investigate the effects of that activation during lunge exercises on the vastus medialis, vastus lateralis, medial, and lateral hamstrings in participants with hamstring shortness and normal length. Design: Quasi-experimental design Methods: Participants were divided into a hamstring shortness group(n=20) and a hamstring normal length group(n=23), based on a hamstring length test. During lunge exercises, muscle activation of the vastus lateralis, vastus medialis, medial, and lateral hamstrings were measured by electromyography. Results: Each muscle tested was less activated in the hamstring shortness group than in the hamstring normal length group. However, there was no statistically significant difference between the groups (p>.05). Conclusion: Although there was no significant difference between the shortness and normal hamstring groups during short lunge exercise time, longer exercising periods will result in the inappropriate activation of the quadriceps femoris. During lunge exercise, hamstring shortness causes an imbalance activation of quadriceps femoris and hamstring, and continuous hamstring shortness can cause damage on joints of lower limb.

• Journal of Genetic Medicine
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• 제19권1호
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• pp.27-31
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• 2022

X-linked dominant hypophosphatemic rickets are the most common form of familial hypophosphatemic rickets resulting from hypophosphatemia caused by renal phosphate wasting, which in turn is a result of loss-of-function mutations in PHEX. Herein, we report a 39-year-old female with short stature and skeletal deformities and 12-month-old asymptomatic daughter. The female has a history of multiple surgical treatments because of lower limb deformities. Her biochemical findings revealed low serum phosphorus levels with elevated serum alkaline phosphatase activity and normal serum calcium levels, suggesting presence of hypophosphatemic rickets. To identify the molecular causes, we used a multigene testing panel and found a mutation, c.667dup (p.Asp223GlyfsTer15), in PHEX gene. To the best of our knowledge, this is a novel mutation. A heterozygous form of the same variant was detected in daughter, who showed no typical symptoms such as bow legs, frontal bossing, or waddling gate, but presented early signs of impaired mineralization in both X-ray and biochemical findings. The daughter was initiated onto early medical treatment with oral phosphate supplementation and an active vitamin D analog. Because the daughter was genetically diagnosed based on a family history before the onset of symptoms, appropriate medical management was possible from early infancy.

• The Journal of Korean Physical Therapy
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• 제36권1호
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• pp.33-38
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• 2024

Purpose: This study investigated the effect of proprioceptive neuromuscular facilitation (PNF) on gait speed in a stroke patient with genu recurvatum. Methods: The subject was a 52-year-old female diagnosed with stroke. Information on health was collected through client Interview based on the International Classification of Functioning, Disability and Health (ICF). The ICF was used to identify connections between functional problems, and for diagnosis, and functional problems were described using ICF terms. For prognostic purposes, comprehensive goals for functional activity and participation level are presented as long- and short-term goals. Intervention was performed using an exercise program composed of techniques and principles based on PNF concepts for 50 minutes a day, 3 times a week, for 6 weeks. Gait speed and lower limb strength before to after intervention differences were used as study outcomes. Results: Clinical advantages were observed in body function (3.6kg increase in knee extension strength, 1.4kg increase in knee flexion strength, 0.9kg increase in hip abduction). Gait speed, which was the patient's primary limitation, was improved by 0.2m/sec. Conclusion: Based on the results of this study, application of the PNF concept would appear to improve gait speed and genu recurvatum in stroke patients.

• 생명과학회지
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• 제18권11호
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• pp.1532-1537
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• 2008

무릎인공관절 단축범위 수술자와 다축범위 수술자를 대상으로 영상분석과 근전도 분석 그리고 운동생리학적 분석을 통하여 얻은 결과는 다음과 같다. 한 계단 오르기와 내리기 동안 소요시간은 대상자들 간에 통계적으로 큰 차이(p=0.380, p=0.171)는 없었지만 평균에서는 약간의 차이가 나타났다. 단 축범위 수술자가 다축범위 수술자보다 오르기와 내리기에서 평균속도가 빠른 것으로 나타났다. 한 계단 오르기 동안 고관절의 각속도, 무릎의 각속도, 발목의 각속도는 세 관절 모두 통계적으로는 유의한 차이(p=0.078, p=0.095, p=0.069)는 없었지만 평균의 비교에서는 단축관절 수술자가 다축관절 수술자보다 빠르게 나타났다. 한 계단 오르기 동안 관절의 최대 토크는 통계적으로 차이(p=0.052, p=0.096, p=0.134)는 나타나지 않았으나 평균의 비교에서는 단축관절 수술자가 다축관절의 수술자보다 각관절의 토큐가 모두 크게 나타났다. 굴곡과 신전으로만 움직이게 단축으로 제작된 인공관절에서는 볼 수 없는 변인으로서 연구의 의미가 있다고 사료된다. 계단 오르기와 내리기 동안 외전과 내전이 일어나는 각도를 알아본 결과 통계적으로는 큰 차이는 없었으나(p=0.103) 계단 오르기 동작 ($6.2^{\circ},\;7.8^{\circ}$)이 내리기 동작($5.8^{\circ},6.4^{\circ}$)보다 약간 크게 나타났다. 다축범위 수술자와 단축범위 수술자의 등장성 수축 시 하지의 근육변화를 알아보기 위하여 $15^{\circ}-75^{\circ}$ 사이의 무릎을 펴는 동안 VM, VL, RF, BF, ST의 근육들의 EMG값을 비교해본 결과 통계적으로 유의한 차이(P<0.05)가 나타났다. Table 5에서 보면 다축범위 수술자와 단축범위 수술자간에 대퇴사두근과 무릎오금근에서 유의한 차이(p<0.05, p<0.01)를 나타내고 있다. 무릎을 펴는 등장성 수축 동작에서 VM EMG값은 단축범위 수술자가 다축범위 수술자보다 $31^{\circ}-45^{\circ}$ 그리고 $61^{\circ}-75^{\circ}$에서 더욱 크게 나타났다. BF EMG값은 모든 구간에서 단축범위 수술자가 다축범위 수술자보다 크게 나타났다. 서로 다른 4그룹에서 운동 강도별 피험자의 체지방율의 변화는 젊은 일반군(C), 노인군(E), 단축범위 수술자(S), 다축범위 수술자(M) 에서 운동시기별 측정값의 통계적 유의한 차이는 나타나지 않았으나, C 그룹에서 시기별 체지방률이 감소하였고, 고강도 운동인 HI 시기에 가장 낮은 값을 나타내었다. 반면에 E, S 및 M 그룹에서는 시기별 감소하는 경향은 있었으나, 증가된 곳도 있고 HI 시기에서는 모든 그룹에서 감소하였다. 하지만 모든 시기에서 통계적인 차이를 나타내지 않았다. 서로 다른 4그룹에서 운동강도별 피험자의 안정시대사량의 변화는 그룹별 용이한 비교를 위하여 체표면적으로 나눈 값으로 표기하였다. C 그룹에서 시기별 안정 시 대사량 값이 증가하여 저강도 운동 후 가장높은 값을 보였고 통계적으로도 유의하게 증가함을 알 수 있었다(p<0.05). 서로 다른 4그룹에서 운동 강도별 피험자의 평균에너지 지출량의 변화는 운동 중과 운동 후 30분간의 에너지 지출량의 평균값을 나타낸 것으로 시기별 C 그룹에 대하여 다른 그룹을 비교 하였다. 우선 고강도 운동 시 C 그룹에 비해 E, S, M 그룹에서 낮은 에너지 소비량 값을 보였고, 모든 그룹에서 통계적으로 낮은 값을 보였다(p<0.05). 그리고 이러한 결과는 저 강도 운동에서도 같은 경향을 보이며 나타났는데, 저강도 운동 시 평균 에너지 지출량은 C그룹에 비하여 E, S, M 그룹에서 낮은 에너지 소비량 값을 보였다. 무릎인공관절 단축범위 수술자와 다축범위 수술자를 대상으로 운동역학적인 변인과 운동생리학적 변인을 동시에 병행하여 연구를 시도한 결과 우선 실험상의 어려움들이 많이 나타났다. 현재는 인공관절 수술이 두 종류의 형태뿐만 아니라 재료가 다른 여러 종류의 인공관절도 제작되고 있다. 계속적으로 추가적인 연구가 실시되어야 할 것으로 사료된다.

• 재활치료과학
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• 제7권4호
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• pp.79-91
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• 2018

목적 : 본 연구에서는 상지 로봇 치료가 아급성기 뇌졸중 환자의 상지기능에 단기적으로 미치는 영향을 알아보는 것이었다. 연구방법 : 본 연구는 뇌졸중 편마비 진단을 받고 1회 1시간씩 상지 로봇 치료와 과제 지향적 훈련(task-oriented training)를 받았던 환자 20명의 의무기록을 이용한 후향적 연구로서, 중재 전/후의 3차원 동작분석검사 결과 값을 토대로 두 중재간의 변화량을 비교 하였다. 결과 분석은 기술 통계와 대응표본 t검정을 사용하여 결과 값을 파악 하였다. 결과 : 연구 결과 상지 로봇 치료를 한 경우 팔 뻗기를 하는 동안 팔굽관절 움직임의 순발력, 효율성, 부드러움에서 향상을 보였으며, 과제 지향적 훈련(task-oriented training)과 비교 하였을 때 팔굽관절의 부드러움에서 유의한 차이를 보였다(p<.05). 결론 : 단기적 상지 로봇 치료는 아급성기 뇌졸중 환자의 팔뻗기 시 팔굽관절 움직임에 효과를 보였으며, 추후 장기적인 연구를 통해 상지 기능의 움직임 개선에 대한 효과 입증이 필요하다.

• 한국운동역학회지
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• 제25권4호
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• pp.393-399
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• 2015

Objective : This study was conducted with an aim to use it as basic data for developing assistive devices, such as insoles that can suppress the progress of degenerative diseases and strategies, to improve early degenerative diseases by assessing walking characteristics of farm workers who were classified as KL-grade in the perspective of motor mechanics. Method : 38 male and female adults who complained of knee joint pain for more than six months were selected, and they were classified according to KL-grade. KL-grade was assessed by an orthopaedic specialist and an occupational environment health specialist. Filming equipment (FX-1, CASIO, Japan) and a ground reaction force system (AMTI OR6, AMTI, USA) were used to identify ground reaction force characteristics, and WOMAC was used for a pain rating scale. Results : There was a difference between the right and left side (axis-X) according to KL-grade, and when the grade was higher, the internal ground reaction force was also higher. Changes in COP were not affected by KL-grade of the knee joint, but it tended to increase as the grade increased. There were differences in the time required for limb support while walking according to the grades, and when the grade was higher, walking was more inefficient with long braking force and short propulsion forces. Also, pain rating scale, the right and left side, and COP changes while in support phase were related. Conclusion : There was a partial, statically significant difference in KL-grade and ground reaction force occurring during the support phase, and there were differences in ground reaction forces according to the grades of degenerative arthritis in the knee joint, indicating that this study is worthy as basic data for future studies.

• Asian Pacific Journal of Cancer Prevention
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• 제13권1호
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• pp.127-130
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• 2012

Aim: We conducted a study in China to assess the health-related quality of life (HRQoL) in patients treated on for malignant bone tumors after surgery, and investigate the possible determinants. Methods: The subjects were 120 patients surgically treated by amputation and limb-salvage for bone tumors during the period of June 2008 to June 2010. The Medical Outcomes Study Short Form 36 (SF-36) was employed to measure the HRQoL of all the patients before and after surgery. Results: With regard to the results of the general quality of life tool (SF-36), we observed a significant improvement of all the indexes of HRQoL after 6 months (p<0.05). PF, RP and BP scores showed significant increase between surgery after 6 and 12 months (p<0.05). The means of the HRQoL of bone tumor patients in our study were still much lower than those of general population in every domain, even 12 months after surgery. Logistic regression showed that female patients were found to have lower scores in physical component summary (PCS) than males (OR=0.64, 95% CI=0.35-0.89). Patients older than 15 years had lower scores in mental component summary (MCS) (OR=0.60, 95% CI=0.32-0.86). Ablative surgery was related to both lower MCS and PCS scores (For MCS, OR=0.54, 95% CI=0.31-0.83; for PCS, OR=0.43, 95% CI=0.25-0.73). Conclusion: Our study showed the treatment for bone tumor could greatly alter the HRQoL of patients. Age, sex and type of surgery were associated with physical or mental HRQoL after surgery.