• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.1
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• pp.29-35
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• 2020

Joubert syndrome (JS) is a rare genetic disorder that is characterized by ataxia, hypotonia, developmental delay, respiratory abnormalities such as apnea-hyperpnea, and abnormal eye movements. The pathognomonic diagnostic finding is the "molar tooth sign" (MTS) on brain magnetic resonance imaging (MRI), described as cerebellar vermis hypoplasia or dysplasia, thick and horizontally oriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. JS is characterized by genetic heterogeneity: pathogenic variants in over 30 genes have been identified to date. The CEP290 protein, which is on chromosome 12q21.3, is most frequently mutated in patients with JS, especially with renal involvement. Here, we report a case of JS in a 14-year-old male patient with end-stage renal disease. To the best of our knowledge, this is the first Korean report of a patient with JS due to CEP290 mutation (c.6012-12T> A) whose diagnosis was confirmed after repetitive MRI. We suggest consultation with an experienced neuro-radiologist and follow-up MRI studies to detect a "hidden" MTS if clinical findings suggest a diagnosis of JS. Furthermore, even in the absence of an MTS, whole exome sequencing should be considered.

• Korean Journal of Biological Psychiatry
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• v.3 no.2
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• pp.216-221
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• 1996

The quantitative EEGs of obsessive-compulsive disorder patients were analyzed using spectral analysis and compared to age and sex-matched controls. The subjects were 19 patients(men=15, women=4) suffering from obsessive-compulsive disorder(DSM-III-R). Absolute power, relative power and interhemispheric asymmetry of EEG were used to compare obsessive-compulsive disorder patients with controls. In order to fit the EEG data to a normal distribution, a log transformation of power values of every bandwidth in each deviation was calculated prior statistical analysis. The Wilcoxon rank test was performed to compare obsessive-compulsive group to the control group. In obsessive-compulsive disorder, abnormalities of quantitative EEGs are prominent in fronto-central. These results ore compatible with other brain imaging studies of obsessive-compulsive disorder and suggested that fronto-central area plays an important role in the pathophysiology of obsessive-compulsive disorder.

• The Korean Journal of Nuclear Medicine Technology
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• v.14 no.2
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• pp.181-185
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• 2010

Purpose: Several studies report that detection of thyroglobulin (Tg) in fine-needle aspiration (FNA) biopsy washout fluid from lymph nodes identifies recurrences or metastases of differentiated papillary thyroid cancer (DPTC) in the neck with higher sensitivity and specificity than fine-needle aspiration cytology (FNAC). We evaluate the diagnostic efficacy and usefulness of Tg measurement in FNA washout fluid (FNA-Tg) and compare with FNAC. Materials and Methods: Forty-eight FNA samples of 37 patients who undergone ultrasonography to detect cervical lymph node metastasis of DPTC, were included for this study. Lymph node metastasis was confirmed by histopathologic examination or long-term imaging follow-up. Sensitivity, specificity and accuracy of FNA-Tg and FNAC were calculated. In 34 patients, we evaluated diagnostic accuracy of FNA-Tg according to the presence or absence of Tg antibody. Results: Sensitivity, specificity and accuracy of FNAC were 75.0%, 97.2% and 91.7%, respectively, and those of FNA-Tg were 100%, 88.9% and 91.7%, respectively. The presence of Tg antibody was not relevant to the diagnostic accuracy of FNA-Tg. Conclusion: FNA-Tg is a as accurate as FNAC with higher sensitivity. FNA-Tg and FNAC are complement techniques for diagnosing lymph node metastasis of DTPC.

• Archives of Plastic Surgery
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• v.43 no.1
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• pp.10-18
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• 2016

Background Lymphatic malformation (LM) is a form of congenital vascular malformation with a low incidence. Although LM has been studied, no consensus has emerged regarding its cause or treatment. Methods In this study, we retrospectively evaluated 40 patients who visited our vascular anomalies center for the treatment of cervicofacial LM, which is a common manifestation of LM. The medical records of patients over a period of 12 years were reviewed and analyzed for commonalities regarding the diagnosis and the results of treatment. Results Suspected cervicofacial LM was confirmed through imaging studies. No difference in incidence was observed according to sex, and 73% of patients first presented with symptoms before the age of two years. The left side and the V2-V3 area were most commonly affected. No significant differences in incidence were observed among the macrocystic, microcystic, and combined types of LM. A total of 28 out of 36 patients received sclerotherapy as the first choice of treatment, regardless of the type of lesion. Complete resolution was achieved in only 25% of patients. Conclusions LM is important to confirm the diagnosis early and to choose an appropriate treatment strategy according to the stage of the disease and each individual patient's symptoms. When treatment is delayed or an incorrect treatment is administered, patient discomfort increases as the lesion gradually spreads. Therefore, more so than is the case for most other diseases, a team approach on a case-by-case basis is important for the accurate and appropriate treatment of LM.

• Pediatric Infection and Vaccine
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• v.14 no.2
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• pp.129-135
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• 2007

Purpose : Kikuchi disease is a subacute necrotizing lymphadenitis characterized by fever, cervical lymphadenopathy and benign self-limiting course in young women especially, but rare in children. Their etiopathology is still unknown, but involved viruses and autoimmune mechanism were proposed. We investigated the clinical and laboratory characteristics of Kikuchi disease in children. Methods : Five patients were diagnosed of Kikuchi disease from January 2001 to June 2006 in Kyunghee University Hospital. We reviewed their medical records retrospectively and analyzed clinical and laboratory findings. Results : The mean age of 5 patients (male to female ratio; 2:3) was 9 yr 9 mon(range: 8 yr 2 mon-12 yr 6 mon). The chief complaints were sustained fever and cervical lymph node that was unilateral, tender and swollen. All patients were treated with antibiotics before diagnosis was made, and rash developed in 2 patients. One patient showed necrotic change in ultrasound with which we suspected Kikuchi disease. Three patients were examined by CT scan additionally. The interval between admission and cervical lymph node excisional biopsy ranged from 6 days to 15 days, and mean period was 9.6 days. All pathological findings were compatible to necrotizing lymphandenitis. Conclusion : Unnecessary laboratory and imaging studies, and treatment with antibiotics tend to be done before making diagnosis, and that caused prolonged hospitalization. Therefore we studied the clinical and laboratory characteristics of Kikuchi disease in children.

• Journal of Trauma and Injury
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• v.24 no.2
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• pp.68-74
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• 2011

Purpose: Although pancreas injury is rare in abdominal trauma, it poses a challenge to the surgeon because its clinical features are not prominent and the presence of main duct injury cannot be easily identified by imaging studies. Furthermore, severe pancreas injuries require a distal pancreatectomy or a pancreaticoduodnectomy which are associated considerable morbidity and mortality. We reviewed the clinical features of and outcomes for patients with pancreas injury. Methods: For 10 years from Jan. 2001 to Dec. 2010, thirty-four patients were diagnosed as having pancreas injury by using an explo-laparotomy. Patients successfully treated by non-operative management were excluded. Patients were divided into early (n=18) and delayed surgery groups (n=11) based on an interval of 24hours between injury and surgery. The clinical features of and the outcomes for the patients in both groups were compared. Results: Males were more commonly injured (82.4% vs.17.6%). The mean age was 37.2 years. The injury mechanisms included vehicle accidents (62.9%, 22/34), assaults (20%, 7/34), and falls (11.4%, 3/34). The head and neck of the pancreas was most commonly injured, followed by the body and the tail (16, 12, and 6 cases).Of the 34 patients, 26 (76.5%) patients had accompanying injuries. Grade 1 and 2 occurred in 14 (5 and 9) patients, and grade 3, 4, and 5 occurred in 20 (16, 3, and 1) patients. The early and delayed surgery groups showed no difference in surgical outcomes. Two patients with grade 3 in the early surgery group died after surgery,one due to massive hemorrhage and the other due to septic shock. Of the five patients initially managed non-operatively, three developed peripancreatic necrosis and two developed pseudocyst. All five patients were successfully cured by surgery. Conclusion: All cases of pancreas injury in this study involved blunt injury, and accompanying injury to major vessels or the bowel was the major cause of mortality. Surgery delayed for longer than 24 hours after was not associated with adverse outcomes.

• Journal of Veterinary Clinics
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• v.30 no.1
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• pp.32-35
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• 2013

Six English Bull dogs from the same dog training camp were referred with main complaints of stridor, gagging and coughing. Diagnostic imaging studies on these dogs revealed hypoplastic trachea with/without bronchopneumonia. The mean age of affected dogs was $4.83{\pm}2.63$ months, while the mean body weight was $9.03{\pm}5.30$ kg. The mean ratio of the tracheal diameter to the thoracic inlet distance (TD/TI) was $0.085{\pm}0.022$ (normally 0.16 or greater), whereas the mean ratio tracheal diameter to the width of the third rib (TD/W3R) was $1.36{\pm}0.36$ (normally 2 or greater). All dogs had marked inspiratory dyspnea with variable degree of coughing. Of 6 dogs, 4 dogs had either bronchitis or bronchopneumonia. Treatment with antibiotics and bronchodilators made improvement on clinical signs on these dogs. Although some dogs still had mild inspiratory dyspnea (especially after exercise or excitement), most dogs live normally.

• Journal of the Korean Arthroscopy Society
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• v.5 no.1
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• pp.32-35
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• 2001

Purpose : To evaluate the efficacy of arthroscopic management of the triangular fibrocartilage complex(TFCC). Materials and Methods : Thirteen patients(14 wrists) with acute or chronic traumatic triangular fibrocartilage complex lesions were included in the study. The mean patients' age was 28.3 years, with a range of 21 to 45 years. All patients were diagnosed by physical examination, arthrographic or magnetic resonance imaging studies. Eight of the 14 wrists had central TFCC tear while 6 wrists had peripheral tear. Under arthroscopic control, injuries to the central portions were treated by debridement and excision of unstable tissue fragment while peripheral tears were repaired. The follow-up period averaged 28 months. The results were analyzed clinically using the Mayo modification of the Green and O' Brien wrist scoring system. Results : Nine of the 14 wrists were rated excellent,3 good and 2 fair Overall, 12 of the 14 patients rated as satisfactory and returned to sports or work activities. Conclusion : Arthroscopic treatment of TFCC resulted in a high degree of patient satisfaction and an increase in the ability to perform at workshop.

• Journal of Korean Neurosurgical Society
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• v.30 no.4
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• pp.451-455
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• 2001

Objectives : There have been several studies documenting the changing level of the conus throughout infancy and childhood, but there is only a little detailed study that documents the range of conus positions in a living adult population, especially in Korean, without spinal deformity. Methods : we made a sequential study of magnetic resonance images of the lumbar spine to determine the variation in position of the conus medullaris in 650 living korean adults population without spinal deformity who checked MRI to identify the cause of low back pain. The study population consisted of patients over the age of 16 years. A T1-weighted, midline, sagittal image was reviewed for identifying the postion of conus. This location was recorded in relation to the upper, middle, or lower third of the adjacent vertebral body or the adjacent intervertebral disc. Results : The study group consisted of 305 men(47%) and 345 women(53%) with a mean age 45.9 years(range, 16-79 years). The conus existed commonly at the middle third of L1(131cases, 20.2%), at the L1-2 intervertebral space(129cases, 19.8%), and the lower third of L1(123cases, 18.9%). The mean position of conus was the lower third of L1(range, middle third of T12 to middle third of L3). Conclusions : The mean position of conus was at the lower third of L1(range, middle third of T12 to middle third of L3). This results was same as that of foreign study. Our results of living korean adult population could allow for safe clinical procedures such as lumbar puncture, spinal anesthesia, and help to explain the differences among observed neurologic injuries from fracture-dislocation at the thoracolumbar junction.

• Journal of Korean Neurosurgical Society
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• v.30 no.1
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• pp.47-53
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• 2001

Objective : This study was undertaken to evaluate operative results and prognosis according to preoperative clinical status and histopathological finding of spinal cord tumor. Methods : We analyzed of clinical feature, tumor location, histopathologic finding, operative results and prognosis in 55 patients with spinal cord tumor during last 10 years. Results : 1) The incidence of spinal cord tumors varies with the age of affected patients who are 2 to 75 years of age. Peak incidences were in the 5th & 7th decade of life, and the ratio of male to female was 1.2:1. 2) The most common histopathologic type was neurinoma(41.9%). 3) The tumors were located most frequently in the thoracic area(22 cases, 40.0%) and in the intradural extramedullary space(30 cases, 54.5%). 4) The most common initial clinical feature was pain in 20 cases(36.4%). For neurologic status on admission, 30 cases(54.5%) showed motor disturbance. 5) In radiologic studies, there were abnormal finding in 21 cases from plain X-rays among 37 cases. The entire 20 cases in when myelography was done showed subarachnoid blockade, either complete or incomplete. The magnetic resonance imaging, regard as the most accurate diagnostic method, revealed the exact location of the tumor and the relationship of the tumor with the adjacent anatomical structure. 6) The total removal was possible in 36 cases(65.5%), subtotal removal in 17 cases(30.9%) and biopsy in 2 cases (3.6%). Nineteen cases(90.5%) among 21 cases with preoperative radiculopathy group showed recovery or improvement, where as only 11 cases(36.7%) among 30 cases with preoperative motor weakness group showed recovery or improvement, with statistically significant difference(p<0.01). Pathologically, 26 cases(83.9%) among 31 cases of neurinoma and meningioma showed postoperative recovery or improved, but only 1 case(6.3%) among 16 cases of metastatic tumor, astrocytoma and ependymoma recovered. Postoperative complication noted in 5 cases(9.1%), and were noted postoperative hematoma, pneumonia, pulmonary edema and spinal cord infarction. Conclusion : Preoperative neurologic status and histopathologic finding are considered important factors of Postoperative outcome in patients with spinal cord tumor.