• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.43-49
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• 2018

Maple syrup urine disease (MSUD, OMIM#248600) is a rare and autosomal recessively-inherited metabolic disorder that is caused by mutations in the branched-chain ${\alpha}$-ketoacid dehydrogenase (BCKDH) genes. It prevents the normal breakdown of branched-chain amino acids (BCAAs), such as leucine, isoleucine, and valine, and leads to poor feeding, lethargy, abnormal movements, seizure, and death if untreated. Here, we report the case of a Korean newborn of biochemically- and genetically-confirmed MSUD manifesting lethargy and central apnea, the acute state of which was successfully treated. The molecular genetic investigation revealed two novel heterozygous mutations (p.Ala32Phefs*48 and p.Val 130Phe) in BCKDHB, and both parents were confirmed as carriers. We emphasize the importance of early diagnosis and prompt introduction of specific treatment for MSUD in life saving and prognosis.

• The Journal of Korean Society for Radiation Therapy
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• v.30 no.1_2
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• pp.169-176
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• 2018

Purpose : The purpose of this study is to evaluate clinical applicability of Co-60 ViewRay treatment plan to increase the skin dose in case of high skin dose is required such as Malignant Fungating Wound By measuring the presence / absence of Bolus application and skin dose by the treatment device and comparing it Materials and Methods : Nine inner measuring points of 2.5 cm lattice arrangement and all 13 measuring points including upper and lower left and right measuring points touching the chest and skin were marked. After CT was taken, each treatment plan was formulated through Eclipse and ViewRay-TPS, and a Fixed beam-IMRT treatment plan was formulated so that the left chest V2Gy=95 % is delivered. Before measurement QED detector was calibrated and the QED detector was positioned at the 13 measurement points displayed on Phantom and surface dose of each treatment planner was measured using 5 mm Bolus application using True-beam and View-ray before and after, measure three times and compare each before applying 5 mm Bolus. Results : The surface dose of the Co-60 ViewRay and the linear accelerator appeared at $76.8%{\pm}5.2%$ vs. $67.3{\pm}%7.5%$ and the surface dose after application of 5 mm Bolus was $87.6%{\pm}8.9%$ vs. $80.3%{\pm}10.2%$ It was measured at 10.2 % (p<0.001). Conclusion : As a result of the surface dose measurement of each treatment instrument, Co-60 ViewRay confirmed that the surface dose reached 95.6 % of 6 MV Linac with conventional 5 mm bolus, despite not using Bolus (p<0.001). Also, by utilizing magnetic resonance images for each treatment, it is possible to observe the change in the treatment site without the problem of exposure, it is easy to formulate an adaptive treatment plan and it is easy to secure the skin dose, so the size In the case of Malignant Fungating Wound patients who need fast skin changes and need high skin doses, Co-60 ViewRay is considered to be more useful than linear accelerators.

• Journal of the Korean Orthopaedic Association
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• v.56 no.5
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• pp.413-418
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• 2021

Purpose: To investigate the effect of facet tropism on the degeneration of facet joint and intervertebral disc in the cervical spine. Materials and Methods: From January 2017 to December 2018, cervical tropism of 100 patients at the C5/6 level was analyzed retrospectively. In computed tomography (CT), the orientation and tropism of the facet joint with respect to the sagittal, coronal, and horizontal planes were measured. Regression of the facet joint in magnetic resonance imaging (MRI) and CT was assessed using a grading system. Intervertebral disc degeneration was assessed and divided into five grades on MRI. For the left and right asymmetry, a difference between two facet angles of less than 7° was classified as the control group, more than 7° was classified as the tropism group. Results: The mean age of the patients was 55.44±12.3 years (31-81 years) in the tropism group and 55.66±10.7 years (32-76 years) in the control group. In the tropism group, 32 were male and 18 were female. In the control group, 24 were male and 26 were female. Facet joint degeneration was identified in 24 patients (48.0%) in the tropism group and 14 patients (28.0%) in the control group, showing a significant difference. Intervertebral disc degeneration was identified in 29 patients (58.0%) in the tropism group and 17 patients (34.0%) in the control group, showing a significant difference. Multivariate revealed, tropism to be a factor that affected the facet joint and intervertebral disc degeneration. Conclusion: Facet joint and intervertebral disc degeneration occurred significantly in the tropism group, and tropism is a factor affecting the degeneration of facet joint and intervertebral disc in the C5/6 level.

• Journal of the Korean Orthopaedic Association
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• v.55 no.2
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• pp.135-142
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• 2020

Purpose: This paper presents the long term follow-up results of arthroscopic partial repair for massive irreparable rotator cuff tears using a biceps long head auto graft. Materials and Methods: Forty-one patients with massive irreparable rotator cuff tear, who underwent arthroscopic repair, were reviewed retrospectively. Patients who underwent arthroscopic partial repair using a biceps long head auto graft were assigned to group 1, and patients in group 2 underwent arthroscopic partial repair alone. Patients with a less than 50% partial tear of the long head biceps tendon were included in this study. The clinical scores were measured using a visual analogue pain scale (VAS) for pain, range of motion (ROM), The University of California, Los Angeles shoulder score (UCLA), American Shoulder and Elbow Surgeons Shoulder Score (ASES), and Korean Shoulder Scoring System (KSS) scores preoperatively and at the final follow-up. The acromiohumeral interval (AHI) was measured using plain radiographs taken preoperatively and at the final follow-up, and re-tear was evaluated using postoperative ultrasound or magnetic resonance imaging at the last follow-up. Results: The mean age of the patients was 62.1±12.7 years, and the mean follow-up period was 90.3±16.8 months. No significant differences in the VAS and ROM (forward flexion, external rotation, internal rotation) were found between the two groups (p=0.179, p=0.129, p=0.098, p=0.155, respectively). The UCLA (p=0.041), ASES (p=0.023), and KSS (p=0.019) scores showed functional improvements in group 1 compared to group 2. At the last follow-up, the measured AHI values were 9.46±0.41 mm and 6.86±0.64 mm in group 1 and 2, respectively (p=0.032). Re-tear was observed in six out of 21 cases (28.6%) in group 1 and nine out of 20 cases (45.0%) in group 2; the retear rate was significantly lower in group 1 than in group 2 (p=0.011). Conclusion: Arthroscopic partial repair for a massive irreparable rotator cuff tear using a biceps long head auto graft has significant clinical usefulness in functional recovery and decreases the re-tear rates after surgery than arthroscopic partial repair alone, showing favorable results after a long-term follow-up.

• Journal of the Korean Orthopaedic Association
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• v.56 no.6
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• pp.512-518
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• 2021

Purpose: This study compared the change in foraminal space on magnetic resonance imaging (MRI) and the clinical outcome after anterior cervical discectomy and fusion (ACDF) versus foraminotomy in cervical foraminal stenosis. Materials and Methods: A retrospective case-control study was conducted from January 2018 to March 2019 on 186 patients who underwent ACDF and foraminotomy. One hundred and two cases were selected considering age, sex, and body mass index. MRI was performed before and on the 5^th day after surgery to compare the changes in the foraminal diameter between the ACDF group (group A-51) and foraminotomy group (group B-51). Results: Between groups A and B, the average change in foraminal vertical diameter was 1.7 mm and 1.2 mm, respectively; group A was 0.5 mm larger difference (p=0.042). The average change in foraminal transverse diameter was 1.2 mm and 1.8mm, respectively; group B showed a 0.6 mm larger change (p=0.21). Both the neck disability index (NDI) and Japanese orthopaedic association (JOA) scores improved in both groups. Group A showed more improvement, but there was no significant difference (p=0.356, p=0.607, respectively). Conclusion: Foraminotomy is a useful option for patients with foraminal stenosis of the cervical spine because it showed comparable clinical and morphological results to ACDF and could minimize motion segment loss and muscle and ligament damage.

• Journal of the Korean Orthopaedic Association
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• v.55 no.4
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• pp.318-323
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• 2020

Purpose: To examine the relationship between total fat infiltration (TFI) rate, which quantifies the reduction of muscles around the spine and is an important factor for sarcopenia, and the factors affecting osteoporotic vertebral compression fracture. Materials and Methods: Patients treated for osteoporotic compression fractures of the lumber spine from January 2012 to December 2016 were analyzed retrospectively. Among them, this study included ninety-eight patients who were 1) diagnosed with osteoporosis with a bone mineral density (BMD) T score of less than 2.5 g/cm², 2) received vertebroplasty or kyphoplasty for lumbar fractures, 3) involved one segment of the lumbar spine, and 4) were followed-up for more than one year. The TFI rate confirmed by analyzing magnetic resonance imagings with the Image J program was studied. Based on this, the relationship between the TFI of the multifidus and erector spinae muscles and the factors of osteoporosis were analyzed. Results: The mean TFI of the multifidus and erector spinae was 14.66±10.16. The spine BMD showed a positive correlation with the hip BMD, but a negative correlation with the TFI. A positive correlation was observed between the hip BMD and body mass index. In addition, vitamin D was positively correlated with both the hip and spine BMD but negatively correlated with the TFI rate. Conclusion: Muscle growth helps treat osteoporosis, and can prevent fractures that occur frequently in osteoporosis patients. Increasing the vitamin intake can also slow the progression of muscle atrophy.

• Journal of the Korean Orthopaedic Association
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• v.56 no.1
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• pp.61-67
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• 2021

Purpose: To evaluate the prognostic factors affecting poor functional outcomes in patients with retear after rotator cuff repair. Materials and Methods: From January 2013 to December 2018, among 631 patients who underwent arthroscopic repair of a rotator cuff tear, 42 patients, who could be followed-up for more than one year and showed a retear of the repaired cuff on magnetic resonance imaging (MRI), were collected retrospectively. The preoperative demographic data, range of motion, American Shoulder and Elbow Surgeons (ASES) score, fatty degeneration, and tear progression on postoperative MRI, as well as other factors that could affect the clinical outcomes, were analyzed. Patients who scored <80 points on the ASES score were allocated to the poor function group. The risk factors for poor clinical outcomes were compared with the group with ASES scores of 80 or above. Results: The postoperative functional results in the group with retear (n=42) after arthroscopic rotator cuff repair showed significant improvement. Univariate analysis revealed the preoperative visual analogue scale (VAS) score and tear progression to have associations with a poor shoulder function. In addition, subscapularis repair was found to be associated with a good shoulder function. The preoperative VAS score and tear progression except for subscapularis repair were independent factors associated with poor clinical outcomes according to multivariate logistic regression analysis. Conclusion: In patients with retear after rotator cuff repair, the preoperative VAS and tear progression in postoperative MRI are factors predicting a poor functional outcome.

• Journal of the Korean Orthopaedic Association
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• v.54 no.6
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• pp.528-536
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• 2019

Purpose: This study examined the effects of a weekly teriparatide on the change in vertebral compression ratio, back pain, and vertebral fracture healing in osteoporosis patients with vertebral compression fractured induced by low energy trauma. Materials and Methods: From January 2016 to December 2017, 57 patients with severe osteoporotic vertebral fractures with a T score of -3.5 or less were included in this study. The changes in the vertebral compression ratio, visual analogue scale (VAS), Oswestry disability index (ODI) for at least 6 months were examined. The morphology of bone marrow edema and the presence of intervertebral cleft, osteocalcin, and N-terminal telopeptide (NTx) were also investigated. Results: The mean compression ratio was 20% in the experimental group (teripratide group) at 3 months, and 38% in the control group. A significant difference in the compression ratio of the vertebral body over time was observed (p<0.05; t-test). A comparison of the compression ratio of the vertebral body with the follow-up duration in each group showed no significant increase in the, compression (p=0.063) in the experimental group and a significant increase in the control group (p<0.05). The mean time to reach the plateau of the compression rate was one month in the experimental group and three months in the control group. The VAS score in the experimental and control group was 0.39 and 1.07 points, respectively. The ODI score in the experimental and control group was 33.72 and 39.52, respectively. At the last follow-up radiographs, there were no cases with an intervertebral cleft (0%) in the experimental group and 1 case (2.2%) in the control group. A significant difference in the osteocalcin level was observed between the injury and 6 months after the injury (p=0.003). In addition, there was no significant difference in the NTx level between the injury and 6 months after injury (p=0.960). Conclusion: In vertebral compression fractures patients with severe osteoporosis, a weekly teriparatide can promote the union of fractures, prevent further collapse of the vertebral body, and reduce the back pain faster.

• Journal of the Korean Orthopaedic Association
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• v.54 no.2
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• pp.164-171
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• 2019

Purpose: A dedifferentiated chondrosarcoma is a rare lethal tumor characterized by a low grade chondrosarcoma juxtaposed with a high grade dedifferentiated sarcoma, such as osteosarcoma, fibrosarcoma. The aim of our study was to document the clinical manifestation and oncologic outcomes of a dedifferentiated chondrosarcoma. Materials and Methods: This study identified 11 patients who were diagnosed and treated for dedifferentiated chondrosarcoma between January 2007 and December 2016. The identified cohort was then reviewed regarding age, sex, symptom onset, tumor location, magnetic resonance imagings (MRIs), surgical margin, and pathologic diagnosis. The time to local recurrence and/or metastasis, follow-up duration, and the patients' final status were analyzed. Results: The patients were comprised of 7 males and 4 females with a mean age of 54 years (range, 33-80 years). The location of the tumor was in the femur in 6 cases, pelvis in 4 cases, and metatarsal in 1 case. The average tumor diameter was 12.7 cm (range, 6.0-26.1 cm). At the time of diagnosis, 2 patients showed pathologic fracture; 1 patient was Enecking stage IIA, 9 patients were stage IIB, and 1 patient was stage III. Eight patients were classified as a primary dedifferentiated chondrosarcoma and 3 patients were secondary. One of the primary lesions was misinterpreted initially as a low grade chondroid lesion by MRI and underwent curettage. Local recurrence occurred in 8 cases and distant metastasis occurred in 10 cases with a mean duration of 8 months (range, 2-23 months) and 7 months (range, 1-32 months), respectively. The three-year overall survival of patients with dedifferentiated chondrosarcoma was 18%, and 10 patients died due to disease progression. Conclusion: Dedifferentiated chondrosarcoma developed lung metastases in the early period of the clinical courses and the prognosis was dismal.

• Clinics in Shoulder and Elbow
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• v.15 no.2
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• pp.86-90
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• 2012

Purpose: We studied the need for distal clavicle resection by comparing rotator cuff tear patients who underwent non-surgical treatment with and without acromioclavicular joint pathology. Materials and Methods: 45 cases that had been under follow up care for at least 9 months after receiving rotator cuff repair in our hospital between Jan. 2005 and Jun. 2011 had been studied. Acromioclavicular joint pathology group and control group were classified by physical examination and MRI findings. The temporal changes in shoulder joint abduction, internal and external rotation strength, ASES and KSS score of the two groups were measured and analyzed. Results: The acromioclavicular joint pathology complicated rotator cuff injury group's strength measurements for abduction, internal rotation, external rotation were each 8.05 (${\pm}4.54$), 11.33 (${\pm}6.05$), 10.24 (${\pm}5.27$) preoperatively and improved to 13.26 (${\pm}5.50$), 17.51 (${\pm}6.80$), 15.60 (${\pm}5.37$) post operatively while the KSS score and ASES score were each 49.07 (${\pm}15.28$) and 48.65 (${\pm}13.27$) preoperatively, improving to 84.48 (${\pm}10.96$) and 84.65. (${\pm}9.86$). The measurements for the group without complicating acromioclavicular pathology are as follows. The strength for abduction, internal rotation, external rotation was each 6.42 (${\pm}3.11$), 7.59 (${\pm}4.81$) and 7.93 (${\pm}4.49$) preoperatively, improving to 15.85 (${\pm}7.35$), 19.18 (${\pm}9.14$), 16.95 (${\pm}5.70$) post operatively, while the KSS score and ASES score each went from 42.12 (${\pm}6.43$) and 41.37 (${\pm}7.42$) to 83.44 (${\pm}6.30$) and 83.17 (${\pm}7.01$) respectively. The measurements for the two groups, however, did not show a statistically significant difference (p>0.05). Conclusion: Analysis of the rotator cuff injury groups with and without AC joint pathology showed that both groups had improved strength, ASES and KSS scores with no statistical difference difference among the groups. As such, it thought that conservative treatment is an acceptable alternative to distal clavicle resection.