• Asian Pacific Journal of Cancer Prevention
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• v.16 no.5
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• pp.1977-1980
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• 2015

Objective: The Von Hippel-Lindau syndrome (VHLD), an inherited neoplastic syndrome predisposing to central nervous system hemangioblastoma (CNS), pheochromocytoma (PCC), renal cell carcinoma(RCC), retinal hemangioma (RA) and renal cysts, is caused by mutations or deletions of the VHL tumor-suppressor gene. To assess VHL genotype-phenotype correlations with function of pVHL a gene mutation analysis of members in a Chinese family with non-syndromic PCCs and individuals with apparently sporadic pheochromocytoma (ASP) was performed. Materials and Methods: DNA samples of 20 members from the Chinese family with non-syndromic PCCs and 41 patients with ASP were analyzed by polymerase chain reaction and direct sequencing, confirmed by Taqman probe. Results: Three novel mutations (H125P, 623(^TTTGTtG) and R120T) were identified in the Chinese family and in 3 among 41 ASP patients. The mutations were all located in exon 2 of VHL gene encoding ${\beta}$-domain of pVHL. The tumor type in H125P carriers and R120T carriers was VHL type 2C. And 623(^TTTGTtG) carriers presented VHL type 2B or type 2C. Conclusions: VHL gene abnormalities were identified in the Chinese family with non-syndromic PCCs and patients with APS, resulting in dysfunction of pVHL. H125P and R120T could be associated with VHL type 2C, while 623(^TTTGTtG) might be linked with VHL type 2B or type 2C. Not only is the genetic analysis helpful for early diagnosis and treatment of patients with VHLD, it is also benefitial for research intoVHLD pathogenesis.

• Clinical and Experimental Pediatrics
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• v.45 no.7
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• pp.923-927
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• 2002

Congenital hepatic fibrosis is a relatively rare disease, characterized by bile ductular proliferation and prominent fibrosis in the portal area of liver resulting in portal hypertension. It is frequently associated with other abnormalities such as polycystic kidney, Caroli syndrome, cystic dysplasia of pancreas, intestinal lymphangiectasia, pulmonary emphysema, hemangioma, and cleft palate. We report here a case of congenital hepatic fibrosis associated with renal tubular ectasia in a 3-year-old girl, whose chief complaint was abdominal distension. Her liver function test did not reveal any abnormal findings. Hepatosplenomegaly and multiple dilated bile ducts were seen in the abdominal CT scaning. Esophageal varix was not detected by an endoscopic examination. Microscopically, diffuse portal fibrosis and widening with proliferation of blie ductules in the liver specimen and tubular ectasia in renal cortex were seen.

• The Journal of Korea CHUNA Manual Medicine
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• v.5 no.1
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• pp.213-222
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• 2004

Objectives : To investigate contributing degree of other factors except pelvic tilting to F.L.L.D by analizing with Gonstead technique on the correlation between femur head height discrepancy on the standing pelvic AP view and F.L.L.D caused by pelvic tilting. Method : We analysed standing pelvis AP X-ray of 70 patients who had visited at the department acupunture and moxibustion in Conmaul oriental medical hospital, during May, 1st, 2004 - July, 30th, 2004, with low back pain or lower extremity pain. We excluded the person with any past history of polio, genetic defect, malunited fracture, growth plate injury, infection and overgrowth attributable to hemangioma, or arteriovenous fistula. Results & Conclusion : The functional leg length discrepancy caused by pelvic tilting and femur head height difference had no statistical difference(p=0.132) but poorly correlated(Pearson ${\nu}=0.05$). In the 94.28% of subjects, the femur head height difference wasn't in accord with F.L.L.D. caused by pelvic tilting. In 47.14% of subjects were expected to have over $3^{mm}$ of leg length discrepancy after pelvic adjustment. The mean of measurement difference between two methods was $3.76{\pm}3.12^{mm}$ and the range was $0{\sim}11.4^{mm}$. Consequently, we must consider not only functional leg length discrepancy caused by pelvic tilting but also anatomical leg length discrepancy, misalignment of ankle, knee or hip joint etc.

• The Korean Journal of Nuclear Medicine
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• v.18 no.1
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• pp.33-37
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• 1984

The accuracy of liver scanning was evaluated in 124 cases with primary or metastatic liver tumors, including a few benign localized lesions and in 277 cases without such lesions. All findings were histologically verified by operation or autopsy. 1) Of the 124 cases with space occupying lesions(SOLs) in the liver, 92 cases were detected by liver scan(sensitivity 74.2%). And of the 277 cases without such lesions, 266 cases were evaluated as no SOLs(specificity 96.0%). The overall accuracy was 89.3%. 2) The authors evaluated the liver scan sensitivity in each of different diseases with SOLs. The sensitivity was 88.9% in primary liver carcinoma, 82.4% in primary liver carcinoma with cirrhosis, 88.7% in liver abscess, and 100% in hemangioma. The sensitivity was low in metastatic tumor(65.8%). 3) The sensitivity of the SOLs in the right lobe was 53.3% and left lobe 27.7%. In the interlobar area, detectability was 41.7%. 4) The authors compared the sensitivity of the liver scan with the size of the SOLs. The smaller the size of the SOLs, the lower the detectability. In the pachy lesions, the sensitivity was 46.6%.

• Journal of Korean Neurosurgical Society
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• v.48 no.2
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• pp.139-144
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• 2010

Objective : We report our surgical experience in the treatment of 16 consecutive patients with benign craniovertebral junction (CVJ) tumor, observed from 2003 to 2008 at our department. Methods : We had treated 6 foramen magnum meningiomas, 6 cervicomedullary hemangioblastomas, 1 accessory nerve schwannoma, 1 hypoglossal nerve schwannoma, 1 C2 root schwannoma, and 1 cavernous hemangioma. Clinical results were evaluated by Karnofsky Performance Scale (KPS) and all patients underwent preoperative neuroradiological evaluation with computed tomography (CT) and magnetic resonance image (MRI). Angiography was performed in 15 patients and preoperative embolization was done in 2 patients. Results : Five far-lateral, 1 supracondylar and 10 midline suboccipital approaches were performed. Gross total removal was achieved in 15 cases (94%) and subtotal removal in 1 patient (6%). None of the patients required occipitocervical fusion. Radiological follow-up showed no recurrence in cases totally removed. Postoperative decrease of KPS scores was recorded in only 1 patient. The treatment of cervicomedullary solid hemangioblastoma presented particular issues : by preoperative embolization, we removed tumor totally without an excessive bleeding or brainstem injury. In one of foramen magnum meningioma, we carried out subtotal removal due to hard tumor consistency and encasement of neurovascular structures. Conclusion : The choice of surgical approaches and the extent of bone resection should be defined according to the location and size of individual tumors. Moreover, we emphasize that preoperative neuroradiological evaluations on presumptive tumor type could be helpful to the surgeon in tailoring the technique and providing the required exposure for different lesions, without unnecessary surgical steps.

• Investigative Magnetic Resonance Imaging
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• v.15 no.1
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• pp.1-10
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• 2011

Pigmented villonodular synovitis, synovial chondromatosis, long-standing rheumatoid arthritis, hemophilic arthropathy, chronic tophaceous gout, amyloid arthropathy, tuberculous arthritis, and hemangioma are the synovial diseases showing low signal intensity on T2-weighted image. Synovial deposition of hemosiderin, urate, and amyloid and fibrosis or caseous necrosis of hypertrophied synovium are known as the pathologic causes of T2 signal intensity. Because of the low incidence of the synovial lesions showing T2 low signal intensity, recognition of these diseases would be helpful for the exact diagnosis.

• Journal of Korean Neurosurgical Society
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• v.44 no.2
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• pp.72-77
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• 2008

Objective : The objective of this study was to evaluate the characteristics and surgical outcome of the conus medullaris tumors. Methods : We retrospectively reviewed 26 patients who underwent surgery for conus medullaris tumor from August 1986 to July 2007. We analyzed clinical manifestation, preoperative MRI findings, extent of surgical resection, histopathologic type, adjuvant therapy, and outcomes. Results : There were ependymoma (13), hemangioblastoma (3), lipoma (3), astrocytoma (3), primitive neuroectodermal tumor (PNET) (2), mature teratoma (1), and capillary hemangioma (1) on histopathologic type. Leg pain was the most common symptom and was seen in 80.8% of patients. Pain or sensory change in the saddle area was seen in 50% of patients and 2 patients had severe pain in the perineum and genitalia. Gross total or complete tumor resection was obtained in 80.8% of patients. On surgical outcome. modified JOA score worsened in 26.9% of patients, improved in 34.6%, and remained stable in 38.5%. The mean VAS score was improved from 5.4 to 1.8 among 21 patients who had lower back pain and leg pain. Conclusion : The surgical outcome of conus medullaris tumor mainly depends on preoperative neurological condition and pathological type. The surgical treatment of conus medullaris tumor needs understanding the anatomical and functional characteristics of conus meudllaris tumor for better outcome.

• Journal of Korean Neurosurgical Society
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• v.54 no.6
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• pp.453-460
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• 2013

Objective : There is a rich literature confirming the default mode network found compatible with task-induced deactivation regions in normal subjects, but few investigations of alterations of the motor deactivation in patients with intracranial lesions. Therefore, we hypothesized that an intracranial lesion results in abnormal changes in a task-induced deactivation region compared with default mode network, and these changes are associated with specific attributes of allocated regions. Methods : Blood oxygenation level dependent (BOLD) functional magnetic resonance imaging (fMRI) during a motor task were obtained from 27 intracranial lesion patients (mean age, 57.3 years; range 15-78 years) who had various kinds of brain tumors. The BOLD fMRI data for each patient were evaluated to obtain activation or deactivation regions. The distinctive deactivation regions from intracranial lesion patients were evaluated by comparing to the literature reports. Results : There were additive deactivated regions according to intracranial lesions : fusiform gyrus in cavernous hemangioma; lateral occipital gyrus in meningioma; crus cerebri in hemangiopericytoma; globus pallidus, lateral occipital gyrus, caudate nucleus, fusiform gyrus, lingual gyrus, claustrum, substantia nigra, subthalamic nucleus in GBM; fusiform gyrus in metastatic brain tumors. Conclusion : There is increasing interest in human brain function using fMRI. The authors report the brain function migrations and changes that occur in patients with intracranial lesions.

• Journal of Trauma and Injury
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• v.29 no.3
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• pp.61-67
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• 2016

Purpose: Abdominal and pelvic computed tomography (APCT) is frequently used as a diagnostic tool in trauma patients. However, trauma unrelated, incidental findings are frequently encountered. The aim of this study was to determine the prevalences of incidental findings on APCT scans in trauma patients. Methods: The archived records of 801 trauma patients treated from January 2013 to December 2015 were reviewed retrospectively. Six hundred and forty of these patients underwent contrast enhanced APCT in an emergency department and were included in this study, and 205 (32.1%) of these patients had incidental findings. These findings were divided into two categories: category I, meaning a radiological benign finding not requiring further evaluation or follow-up, and category II, requiring further evaluation and follow-up. Results: One hundred and sixty (24.8%) patients were allocated to category I and 45 (7.2%) to category II. The most frequent incidental findings were discovered in kidneys (34.6%), followed by liver (28.8%), and gallbladder (15.6%). The most frequent finding in category I was a benign cyst (60.1%), followed by a simple stone (15.6%), and hemangioma (11.9%). Adenomyomatosis of the gallbladder (17.8%) was the most common lesion in category II, followed by atypical mass (15.6%), complicated stone (15.6%) and cystic neoplasm (15.6%). Conclusion: The prevalence of an incidental finding on APCT scans was 32.1%. Although category II lesions were not common in trauma patients, these findings should be communicated to patients, and when necessary referred to a primary care physician. Systems are required for producing appropriate discharge summaries and informing patients about the implications of incidental findings.

• Journal of Yeungnam Medical Science
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• v.13 no.2
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• pp.302-307
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• 1996

Hepatic masses show different enhancing patterns in IV bolus computed tomography: Hepatocellular carcinoma shows high-attenuation in the early enhancing phase and low-attenuation in the late enhancing phase, hemangioma shows peripheral dot-like high-attenuation in the early enhancing phase and central high-attenuation in the late enhancing phase, and metastatic cancer and cholangiocelluar carcinoma show peripheral high-attenuation rim in the early enhancing phase and central portion gradulally high-attenuation in the late enhancing phase. but sometimes enhancing patterns of the hepatic masses are confuse. To evaluate the significance of the AFP level and HBsAg in differentiation of the hepatic masses, we retrospectively analyzed AFP level and HBsAg in 228 pathologically or radiologically confirmed hepatocellular carcinomas, and 137 pathologically nonhepatocellular cacinomas. The results were as follows : In hepatocellular carcinoma, AFP level above 20ng/ml was 77.8% and HBsAg positve was 72.6%. In nonhepatocellular carcinoma, AFP level above 20ng/ml was 3.7% and HBsAg positve was 16.1%. We concluded that AFP level and HBsAg are helpful to distinguish hepatocellular carcinoma from nonhepatocellular carcinoma, when IV bolus computed tomogram finding is uncertain.