• The Journal of Korea Assosiation for Disability and Oral Health
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• v.2 no.2
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• pp.147-152
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• 2006

Lesch-Nyhan syndrome is rare X-linked genetic disorder involving absence of the enzyme hypoxanthine guanine phosphoribosyl transferase (HGPRT) related to purine metabolism. The deficiency of HGPRT activity leads to an excesscive uric acid production and consequent hyperuricemia. It occurs almost exclusively in males, and the incidence is estimate to be 1/100,000~380,000. Clinical presentation is characterized by developmental delay, mental retardation, choreoathetosis, spastic cerebral palsy, nephrolithiasis, obstructive nephropathy and acute gouty arthritis. A characteristic feature of Lesch-Nyhan syndrome is the appearance of intractable self-mutilation behavior. Self-mutilation behavior is complicated by secondary infection and tissue loss as well as pain. The dental management of self-mutilation includes presertive methods of using appliances such as lip bumper or soft mouthguard and radical methods such as extraction of all teeth or orthognathic surgery. A case of Lesch-Nyhan syndrome patient with self-mutilation and severe lower lip injury is presented. He was treated successfully with soft mouthguard.

• Genomics & Informatics
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• v.14 no.4
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• pp.216-221
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• 2016

Osteoporotic fractures (OFs) are critical hard outcomes of osteoporosis and are characterized by decreased bone strength induced by low bone density and microarchitectural deterioration in bone tissue. Most OFs cause acute pain, hospitalization, immobilization, and slow recovery in patients and are associated with increased mortality. A variety of genetic studies have suggested associations of genetic variants with the risk of OF. Genome-wide association studies have reported various single-nucleotide polymorphisms and copy number variations (CNVs) in European and Asian populations. To identify CNV regions associated with OF risk, we conducted a genome-wide CNV study in a Korean population. We performed logistic regression analyses in 1,537 Korean subjects (299 OF cases and 1,238 healthy controls) and identified a total of 8 CNV regions significantly associated with OF (p < 0.05). Then, one CNV region located on chromosome 20q13.12 was selected for experimental validation. The selected CNV region was experimentally validated by quantitative polymerase chain reaction. The CNV region of chromosome 20q13.12 is positioned upstream of a family of long non-coding RNAs, LINC01260. Our findings could provide new information on the genetic factors associated with the risk of OF.

• Childhood Kidney Diseases
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• v.16 no.1
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• pp.51-53
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• 2012

Henoch-Sch$\ddot{o}$nlein purpura (HSP) is the most common vasculitis in children and is characterized by cutaneous purpura, arthritis, abdominal pain, and nephritis. Bullous skin lesions are rare in children. We report a case involving a 9-year-old female with HSP who displayed rapidly evolving hemorrhagic bullae from the primary purpuric lesions during systemic corticosteroid therapy. The bullae disappeared within 7 days of systemic corticosteroid therapy. Some scar lesions of the skin developed on acute phase recovered completely after 6 months. Bullae should not be considered as a poor prognostic factor of HSP and its renal outcome. Skin biopsy in HSP children with bullae is not necessary if clinical diagnostic criteria of HSP are met. However, further evaluation of more pediatric HSP with bullae is needed to get the clearer conclusions. We report a 9-year-old female with HSP who showed the rapidly evolving hemorrhagic bullae from primary purpuric lesions during systemic corticosteroid therapy.

• Biomolecules & Therapeutics
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• v.5 no.1
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• pp.87-93
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• 1997

DA-5018, a new capsaicin derivative, showed potent analgesic effect comparable to that of morphine in various experimental acute pain models. in this study, whether the analgesic mechanism of DA-5018 is related to opiate receptors or prostanoids was investigated. The affinity of DA-5018 for opiate receptor was determined by receptor binding assay. The Ki values of DA-5018 for nonspecific and specific $\mu$, $textsc{k}$, $\delta$-opiate receptor was 299$\pm$8.88, 735$\pm$215, 2930$\pm$ 163, 1550$\pm$813 nM, respectively and DA-5018 exhibited lower affinity than morphine. DA-5018 (10-"~3$\times$10-′M) inhibited electrically-evoked contractions of the guinea ply ileum and rat vas deferens, and these inhibition was not antagonized by naloxone(10 nM), an opiate receptor antagonist. Antagonism of analgesic effect of 7A-5018 by naloxone was examined by tail pinch test. Analgesic action of DA-5018(0.1 ~2 mg/kg, 5.c.) was not antagonized by naloxone(1 mg/rg, i.p.). These results indicate that pharmacological action of DA-5018 is not related with opiate receptor. Cyclooxygenase and 5-lipoxygenase activities in rat peritoneal neutrophil treated with A23187 and arachidonic acid were measured by radioimmunoassay. DA-5018 stimulated the cyclooxygenase activity and the concentration show-ing the two fold increase of activity was 124$\mu$M. DA-5018 slightly inhibited 5-lipoxygenase activity and these results together indicate that analgesic action of 3A-5018 is not mediated through inhibition of cyclooxy genase or lipoxygenase. These results suggest that the analgesic effect of DA-5018 is not due to blocking opiate receptor or to inhibiting the synthesis of prostanoids in the arachidonic acid metabolism pathway.

• Journal of Korean Neurosurgical Society
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• v.30 no.5
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• pp.642-646
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• 2001

A 12-years-old female admitted to the hospital with the complaint of pain on the right upper chest area which persisted about 1 month prior to admission. $Caf{\acute{e}}$-au-lait spots of various size laying on a whole body and freckling on the axilla were found on physical examination. A huge mass was found on the plain chest X-ray and on chest MRI. The mass encroached thoracic spine, posterior rib, back muscles, and then into the neural canal and compressed thoracic spinal cord. On the 5th day of hospitalization, the patient complained tingling on the both legs and 2 days later, monoparesis on the right leg. Open thoracotomy and decompressive laminectomy was done to remove mass. Pathologic reports confirmed rhabdomyosarcoma, embryonal type.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.13 no.2
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• pp.199-203
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• 2010

Sigmoid volvulus may cause acute or subacute colonic obstruction. Excessive length of the sigmoid colon may be a contributing factor. Typically, the patient develops bilious vomiting and marked gaseous abdominal distension. We report a case of sigmoid volvulus in a 9-year-old boy who presented with recurrent, sudden onset abdominal pain, abdominal distension, and vomiting for 1 year, which was diagnosed by simple abdominal X-ray, barium enema, computed tomography, and colonoscopic examination. Colonoscopic reduction failed and a sigmoid colectomy with primary repair was performed. The intra-operative findings showed that the sigmoid colon was noted to be dilated, and redundant with a lax mesentery. Two clear areas of compression (proximal and distal) were present. After sigmoidectomy, the symptoms resolved. After 5 years of follow-up, he had no new symptoms.

• Journal of Preventive Medicine and Public Health
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• v.39 no.3
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• pp.263-269
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• 2006

Objectives: As the number of people with disabilities is increasing and their needs for care are varied, the continuum and comprehensiveness of their rehabilitative care are getting more important. This study was performed to understand the utilization of rehabilitation services and requirements of care among the people with severe disabilities in Korea. Methods: We interviewed 578 disabled persons who had severe extremity and cerebral impairment in the urban and rural areas of Korea. The questionnaire included questions on their general characteristics, the type of disability, their physical function (ADL, IADL), their use of rehabilitation services after discharge and their requirements for rehabilitation care Results: Only 12.6% of people with disability in the community continuously used the available medical rehabilitation care. The associated factors for utilization of rehabilitation services were pain and admission for rehabilitative treatment in the acute phase. There was a great need for rehabilitation services in community and this varied according to gender, the socio-economic status, the functional status and the geographic region. The gap between utilization and need for rehabilitation services was largest in the economic support. The gap of primary health care was larger in the rural area than in the urban area. Conclusions: The needs for rehabilitation service were diverse according to the individual functional status, the regional characteristics and other general characteristics of people with disability. Strategies should be considered to eliminate the barriers to obtain rehabilitation services for the people with disability in the community.

• Journal of Chest Surgery
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• v.25 no.9
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• pp.968-975
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• 1992

A clinical analysis was performed on 404 cases of the chest trauma who were admitted and treated at department of thoracic and cardiovascular surgery, Chung Ang University, Yong San Hospital during the past 8 years from July 1984 to April 1992. The results were as follows. 1. The sex ratio was 3: 1 with male predominence. 2. The common age groups were 3rd, 4th, 5th and 6th decades. 3. The most common chief complaint was chest pain[58.2%]. 4. Of 404 cases of chest trauma, 50 cases were resulted from penetrating injuries whereas 354 cases were from non penetrating injuries. The most common cause of the non penetrating injuries was traffic accident[234/354, 66.1%] and of the penetrating injuries were stab wound[47/50, 94%]. 5. The left thorax was the preferred site of chest trauma. 6. The range of hospital stay was from less than 1 week to over 6 weeks and the average duration was about 2 weeks. 7. The common chest trauma was rib fracture[51.6%] and others were simple contusion [18.8%], hemothorax[14.6%], hemopneumothorax[14.9%] and pneumothorax[8.7i]. The rib fracture was prevalent between 4th to 9th rib laterally. 8. There were 92 cases of associated injuries which were bone fracture[66/92, 71.7%], head injury[17/92, 18.5%] and abdominal injury[9/92, 9.8%]. 9. The methods of treatment were conservative management[58.6%], closed tho-racostomy[23.3%], open thoracotomy[3.4%] and others. 10. There were 28 cases[6.9%] of complication, such as pneumonia, atelectasis, emp-yema, respiratory failure and others. 11. The overall mortality was 2.5%[10 cases] and causes of death were hypovolemic shock, acute renal failure, adult respiratory distress syndrome, sepsis and multiple organ failure.

• Journal of Chest Surgery
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• v.20 no.4
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• pp.839-846
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• 1987

The records of 10 patients with traumatic diaphragmatic hernia seen from November 1977 through July 1987 were reviewed. All the patients had a transdiaphragmatic evisceration of abdominal contents into the thorax. We treated 7 male and 3 female patients ranging in age from 3 to 62 years. In 8 patients, diaphragmatic hernia followed blunt trauma and in 2 patients, stab wounds to the chest. The herniation occurred on the right side in 3 patients and on the left side in 7. All the patients sustained additional injuries: rib fractures [7 patients], additional limb, pelvic and vertebral fractures [6], closed head injury [2], lung laceration [1], liver laceration [1], renal contusion [1], ureteral rupture [1], and splenic rupture [1]. Organs herniated through the diaphragmatic rent included the omentum [6 patients], stomach [4], liver [4], colon [3], small intestine [1], and spleen [1]. For right-sided injuries, the liver was herniated in all 3 patients and the colon, in 1. in the initial or latent phase, dyspnea, diminished breath sounds, bowel sounds in the chest were noted in 4 patients, and in the obstructive phase, nausea, vomiting, and abdominal pain were found in all 3 patients. Two patients had a diagnostic chest radiograph with findings of bowel gas patterns, and an additional 8 had abnormal but nondiagnostic studies. Hemothorax, pleural effusion or abnormal diaphragmatic contour were common abnormal findings. Three patients were operated on during the initial or acute phase [immediately after injury], 4 patients were operated on during the latent or intermediate phase [3 to 210 days], and 3 patients were operated on during the obstructive phase [10 to 290 days]. Six patients underwent thoracotomy, 2 required thoracoabdominal incision, and 2 had combined thoracotomy and laparotomy. Primary suture was used to repair the diaphragmatic hernia in 9 cases. One patient required plastic repair by a Teflon felt. Empyema was the main complication in 2 patients. In 1 patient, the empyema was treated by closed thoracostomy and in 1, by decortication and open drainage. There were no deaths.

• Clinics in Shoulder and Elbow
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• v.23 no.1
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• pp.20-26
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• 2020

Background: High complication rate after open reduction and internal fixation can lead to use of primary total elbow replacement (TER) in treatment of complex distal humerus fractures in elderly patients. The purpose of this study was to investigate the short-term outcomes and complications after primary TER in patients with complex distal humerus fracture. Methods: Nine patients with acute complex distal humerus fracture were treated by primary TER using the semiconstrained Coonrad-Morrey prosthesis. The mean age of patients was 72.7 years (range, 63-85 years). Clinical and radiographic outcomes were evaluated over a mean follow-up of 29.0 months (range, 12-65 months) using visual analog scale (VAS) score for pain; Mayo elbow performance score (MEPS); Quick Disabilities of the Arm, Shoulder, and Hand (Quick-DASH) score; and serial plain radiographs. Complications were also evaluated. Results: At the final follow-up, mean VAS, MEPS, and Quick-DASH scores were 1.2, 80.5, and 20, respectively. The mean range of motion was 127.7° of flexion, 13.8° of extension, 73.3° of pronation, and 74.4° of supination. There was no evidence of bushing wear or high-grade implant loosening on serial plain radiographs. Three complications (33.3%) comprising two periprosthetic fractures and one ulnar neuropathy were observed. Conclusions: Primary TER for treatment of complex distal humerus fractures in elderly patients yielded satisfactory short-term outcomes. However, surgeons should consider the high complication rate after primary TER.