• Journal of Genetic Medicine
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• v.20 no.1
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• pp.6-14
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• 2023

Fabry disease (FD), a rare X-linked lysosomal storage disorder, is caused by mutations in the α-galactosidase A gene gene encoding α-galactosidase A (α-Gal A). The functional deficiency of α-Gal A results in progressive accumulation of neutral glycosphingolipids, causing multi-organ damages including cardiac, renal, cerebrovascular systems. The current treatment is comprised of enzyme replacement therapy (ERT), oral pharmacological chaperone therapy and adjunctive supportive therapy. ERT has been introduced 20 years ago, changing the outcome of FD patients with proven effectiveness. However, FD patients have many unmet needs. ERT needs a life-long intravenous therapy, inefficient bio-distribution, and generation of anti-drug antibodies. Migalastat, a pharmacological chaperone, augmenting α-Gal A enzyme activity only in patients with mutations amenable to the therapy, is now available for clinical practice. Furthermore, these therapies should be initiated before the organ damage becomes irreversible. Development of novel drugs aim at improving the clinical effectiveness and convenience of therapy. Clinical trial of next generation ERT is underway. Polyethylene glycolylated enzyme has a longer half-life and potentially reduced antigenicity, compared with standard preparations with longer dosing interval. Moss-derived enzyme has a higher affinity for mannose receptors, and seems to have more efficient access to podocytes of kidney which is relatively resistant to reach by conventional ERT. Substrate reduction therapy is currently under clinical trial. Gene therapy has now been started in several clinical trials using in vivo and ex vivo technologies. Early results are emerging. Other strategic approaches at preclinical research level are stem cell-based therapy with genome editing and systemic mRNA therapy.

• Journal of the Korean BIBLIA Society for library and Information Science
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• v.20 no.4
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• pp.143-157
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• 2009

The purpose of this study is to provide the basic data for architectural planning of the library building for preserving ancient documents through analysis of the spatial composition(facility program, area ratio, space zoning, circulation system). This study suggests an outcome as follows. First, The facility program of the archives is composed with four kind functional area ; collection area, user area, administrative/management area, and service/public area ; Second, through the case studies, it was proven that more space was given to the collection area such as the preservation part when compared to other areas(39~56%). Third, there are some traits found based on the location of the stack room of the specialized libraries, the location of the preservation department, and the existence of the loading and unloading area. Fourth, it shows that the organization is related to the movement routes.

• Restorative Dentistry and Endodontics
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• v.45 no.4
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• pp.50.1-50.11
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• 2020

Objectives: In this study, we investigated the potential of amoxicillin-loaded polymeric microspheres to be delivered to tooth root infection sites via a bioactive reparative cement. Materials and Methods: Amoxicillin-loaded microspheres were synthesized by a spray-dray method and incorporated at 2.5% and 5% into a mineral trioxide aggregate cement clinically used to induce a mineralized barrier at the root tip of young permanent teeth with incomplete root development and necrotic pulp. The formulations were modified in liquid:powder ratios and in composition by the microspheres. The optimized formulations were evaluated in vitro for physical and mechanical eligibility. The morphology of microspheres was observed under scanning electron microscopy. Results: The optimized cement formulation containing microspheres at 5% exhibited a delayed-release response and maintained its fundamental functional properties. When mixed with amoxicillin-loaded microspheres, the setting times of both test materials significantly increased. The diametral tensile strength of cement containing microspheres at 5% was similar to control. However, phytic acid had no effect on this outcome (p > 0.05). When mixed with modified liquid:powder ratio, the setting time was significantly longer than that original liquid:powder ratio (p < 0.05). Conclusions: Lack of optimal concentrations of antibiotics at anatomical sites of the dental tissues is a hallmark of recurrent endodontic infections. Therefore, targeting the controlled release of broad-spectrum antibiotics may improve the therapeutic outcomes of current treatments. Overall, these results indicate that the carry of amoxicillin by microspheres could provide an alternative strategy for the local delivery of antibiotics for the management of tooth infections.

• Journal of the Korean Academy of Esthetic Dentistry
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• v.32 no.1
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• pp.23-32
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• 2023

A patient with para-functional habits can cause widespread teeth wear, along with temporomandibular joint disorders and myofascial pain syndrome in the masticatory muscles. Prolonged teeth wear is associated with a decrease in vertical occlusal dimension, leading to issues such as changes in facial morphology, decreased masticatory efficiency, and temporomandibular joint disorders. To achieve a three-dimensional full-mouth rehabilitation in patients with decreased vertical occlusal dimension, accurate diagnosis, analysis, and proactive treatment planning are essential. Prosthetic treatment accompanied by the restoration of physiological vertical occlusal dimension and the re-establishment of a normal occlusal plane is necessary. This case report presents a full-mouth rehabilitation case involving a patient with overall teeth wear, showing decreased vertical occlusal dimension which results in discomfort in the temporomandibular joint and aesthetic dissatisfaction. The report highlights the successful outcome achieved through the use of occlusal stabilization splint for temporomandibular joint stability and Gothic arch tracing devices for the re-establishment of intermaxillary relationships. Also, through adjustments and adaptation assessment using provisional prostheses, favorable outcomes were achieved both functionally and aesthetically.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.27 no.1
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• pp.37-42
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• 2024

Purpose: Limited data exist regarding outcome and morbidity associated with portosystemic shunts in the pediatric transplant population. Our study assesses the outcomes of pediatric patients who underwent a portosystemic shunt procedure, both with and without liver transplantation (LT). Methods: This study retrospectively reviewed the medical records of pediatric patients aged 0-19 years who underwent shunt placement between 2003 and 2017 at a tertiary care center. The analysis included cases of shunt placement with or without LT. Results: A total of 13 pediatric patients were included in the study with median age of 8.8 years. Among the cases, 11 out of 13 (84.6%) underwent splenorenal shunt, 1 (7.7%) underwent a mesocaval shunt, and another 1 (7.7%) underwent a Modified Rex (mesoportal) shunt. Additionally, 5 out of 13 (38.5%) patients had LT, with 4 out of 5 (80.0%) receiving the transplant before shunt placement, and 1 out of 5 (20.0%) receiving it after shunt placement. Gastrointestinal bleeding resulting from portal hypertension was the indication in all cases. A total of 10 complications were reported in 5 patients; the most common complication was anemia in 3 (23.1%) patients. At the most recent follow-up visit, the shunts were functional without encephalopathy, and no deaths were reported. Conclusion: Shunt placement plays a crucial role in the management of patients with portal hypertension. Our study demonstrates favorable long-term outcomes in pediatric patients who underwent shunt placement. Long term shunt outcomes were similar and unremarkable in patients with LT and without LT.

• Physical Therapy Rehabilitation Science
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• v.13 no.1
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• pp.86-94
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• 2024

Objective: To evaluate the changes in bladder capacity and storage through non-invasive neuromodulation by application of repetitive Trans magnetic stimulation (rTMS) and genital nerve stimulation (GNS) in traumatic spinal cord survivors. Design: A Single Case Study. Method: The Patient was registered in trail with the clinical trial registry of India (CTRI/2022/05/042431). The Patient was interposed with rTMS on lumbar area, from T11-L4 vertebrae with 1 Hz and the intensity was 20% below that elicited local paraspinal muscular contraction for 13 minutes. GNS was placed over dorsum of the penis with the cathode at the base and anode 2 cm distally at 20 Hz, 200 microseconds, Continuous and biphasic current was delivered and amplitude of stimulation necessary to elicit the genito-anal reflex. For assessment, Neurological examination was done for peri-anal sensation (PAS), voluntary anal contraction (VAC) and bulbocavernous reflex (BCR), deep anal pressure (DAP), and American Spinal Injury Association Impairment Scale (ASIA scale). Outcome assessment was done using Urodynamics, Spinal Cord Independence Measure Scale Version-III (SCIM-III), American Spinal Injury Association Impairment Score (ASIA Score), Beck's Depression Inventory Scale (BDI). The baseline evaluation was taken on Day 0 and on Day 30. Results: The pre-and post-data were collected through ASIA score, SCIM-III, BDI and Urodynamics test which showed significant improvement in bladder capacity and storage outcomes in the urodynamics study across the span of 4 weeks. Conclusion: rTMS along with GNS showed improvement in bladder capacity & storage, on sensory-motor score, in functional independence of individual after SCI.

• Journal of Korean Foot and Ankle Society
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• v.28 no.1
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• pp.15-20
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• 2024

Purpose: Achilles tendon rupture is a frequently encountered ankle pathology associated with a substantial burden of intense pain and functional deficits. Chronic Achilles tendon ruptures with considerable defects pose intricate repair challenges that are often marred by complications such as re-rupture and persistent pain. Various treatment methods, including allograft transplantation, have been proposed, but the literature on this technique is limited. In this study, we propose a surgical approach utilizing allotendon transplantation and a calcaneal tunneling technique and provide clinical evaluation details. Materials and Methods: Fifteen patients with chronic Achilles tendon ruptures treated with allotendon between 2020 and 2022 were included in the study. Patients were evaluated at 1, 3, and 6 months postoperatively using Visual Analog Scale (VAS) scores and Achilles Tendon Total Rupture Scores (ATRSs). Complications were assessed postoperatively. Results: The average VAS score was 7 before surgery, 7.3 immediately after surgery, and 4.3 at 1 month, 2.5 at 3 months, and 1.3 at 6 months after surgery. Because the sample was limited to 15 individuals and distributions were non-normal, the analysis was conducted using the non-parametric Wilcoxon's signed-rank test, and statistical significance was accepted for p-values<0.05. Results showed a significant improvement in ATRS and VAS scores versus preoperative and immediate postoperative values. VAS scores showed a decreasing trend after surgery, whereas average ATRS scores increased from 14 before surgery, 33.8 at 1 month, 82.7 at 3 months, and 93.9 at 6 months. Conclusion: This study suggests that allograft transplantation using the described calcaneal tunnel technique provides an effective treatment for chronic Achilles tendon ruptures. However, extensive research and long-term clinical trials are required to validate and better understand the technique's efficacy.

• The Journal of Korean Medicine
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• v.44 no.4
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• pp.26-40
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• 2023

Objectives: This study was to evaluate the effectiveness and safety of Bojungikgi-tang for lung cancer patients with anorexia. Methods: This was a single-arm, open-label, and single-center trial, and suitable participants took Bojungikgi-tang (Buzhongyiqi-tang in Chinese, Hochuekki-to in Japanese) three times a day before or between meals for six weeks (42 days). After registration of clinical trials (visit 2), they visited the hospital every three weeks (visits 3 and 4) and measured or tested the effectiveness or safety evaluation variables to analyze the results. The primary outcome was the anorexia/cachexia subscale (A/CS) of functional assessment of anorexia/cachexia therapy (FAACT) score. Results: Seventeen lung cancer patients were included in the intention-to-treat (ITT) analysis. Lung cancer patients had higher A/CS of FAACT scores after six weeks of Bojungikgi-tang administration compared to that at the baseline. This was not significant four lung cancer (p=0.1668). In the secondary outcomes, the visual analog scale (VAS) score of anorexia decreased significantly (p=0.0009), and the CD4/CD8 ratio (p=0.0396) and CD4 levels (p=0.0345) significantly increased after six weeks of treatment. No serious adverse events were reported with Bojungikgi-tang in lung cancer patients. Conclusions: Bojungikgi-tang can be an effective and safe treatment for anorexia in lung cancer patients undergoing chemotherapy.

• Clinics in Shoulder and Elbow
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• v.26 no.4
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• pp.373-379
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• 2023

Background: The purpose of this study was to determine the association between smoking and clinical outcomes of hook plate fixation for acute acromioclavicular (AC) joint injuries. Methods: This study retrospectively investigated 82 patients who underwent hook plate fixation for acute AC joint dislocation between March 2014 to June 2022. The patients were grouped by smoking status, with 49 in group N (nonsmokers) and 33 in group S (smokers). Functional scores and active range of motion were compared among the groups at the 1-year follow-up. Coracoclavicular distance (CCD) was measured, and difference with the uninjured side was compared at initial injury and 6 months after implant removal. Results: No significant differences were observed between the two groups in demographic factors such as age and sex, as well as parameters related to initial injury status, which included time from injury to surgery, the preoperative CCD difference value, and the Rockwood classification. However, the postoperative CCD difference was significantly higher in group S (3.1±2.6 mm) compared to group N (1.7±2.4 mm). Multivariate regression analysis indicated that smoking and the preoperative CCD difference independently contributed to an increase in the postoperative CCD difference. Despite the radiographic differences, the postoperative clinical outcome scores and active range of motion measurements were comparable between the groups. Conclusions: Smoking had a detrimental impact on ligament healing after hook plate fixation for acute AC joint dislocations. This finding emphasizes the importance of smoking cessation to optimize reduction maintenance after AC joint injury. Level of evidence: III.

• Clinical Nutrition Research
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• v.13 no.1
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• pp.22-32
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• 2024

Rheumatoid arthritis (RA) is a systemic inflammatory autoimmune disorder with widespread synovitis. Isoflavones, the main active component of soy, have been reported to have potent anti-inflammatory effects; the previous RA animal models showed the promising effect of soy supplementation. We aimed to evaluate the effect of soy bread on inflammatory markers and lipid profiles in RA patients. The present study was designed as a randomized controlled trial. RA patients were randomly allocated to obtain soy bread (n = 22) or placebo bread (n = 22) for 8 weeks. Fasting serum levels of lipid profile, total antioxidant capacity (TAC), tumor necrosis factor-α (TNF-α), C-reactive protein (CRP), and DAS28 were checked. Findings showed that there were no significant differences between the two groups in physical activity and dietary intake at the beginning of the study and the end of the study. There were no significant differences between the two groups in measured lipid profile markers, including high-density lipoprotein, low-density lipoprotein, total cholesterol, triglyceride, and very low-density lipoprotein, at the end of the trial. In addition, TAC and CRP also were not significant at the end of the trial between the 2 groups (0.66 and 0.12, respectively). However, the serum levels of TNF-α reduced significantly in the soy bread group at the end of the intervention (p < 0.000) and compared with the control group (p < 0.019). Soy bread consumption only decreased circulating TNF-α serum concentration. Other outcome measures were not changed following supplementation. Future long-term, well-designed studies are needed to confirm these findings.