• Clinical and Experimental Pediatrics
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• 제55권11호
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• pp.430-437
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• 2012

Purpose: Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. Only a few MPS IVA cases have been reported in the Korean literature; there is a paucity of research about clinical or radiologic findings for this disorder. Therefore, we studied clinical findings, radiological features, and genetic data of Korean MPS IVA patients for determining factors that may allow early diagnosis and that may thus improve the patients' quality of life. Method: MPS IVA was confirmed via assay for enzymatic activity of leukocytes in 10 patients. The GALNS gene was analyzed. Patients' charts were retrospectively reviewed for obtaining clinical features and evaluated for radiological skeletal surveys, echocardiography, pulmonary function test, and ophthalmologic test results. Result: Nine patients had severe clinical phenotype, and 1 had an intermediate phenotype, on the basis of clinical phenotype criteria. Radiologic findings indicated skeletal abnormalities in all patients, especially in the hips and extremities. Eight patients had an odontoid hypoplasia, and 1 showed mild atlantoaxial subluxation and cord myelopathy. Genetic analysis indicated 10 different GALNS mutations. Two mutations, c.451C>A and c.1000C>T, account for 37.5% (6/16) and 25% (4/16) of all mutations in this samples, respectively. Conclusion: An understanding of the clinical and radiological features involved in MPS IVA may allow early diagnosis of MPS IVA. Adequate evaluations and therapy in the early stages may improve the quality of life of patients suffering from skeletal abnormalities and may reduce life-threatening effects of atlantoaxial subluxation.

• Clinical and Experimental Pediatrics
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• 제55권2호
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• pp.48-53
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• 2012

Purpose: Gaucher disease is caused by a ${\beta}$-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in the Korean population. Methods: Clinical findings at diagnosis, $GBA$ mutations, and clinical courses were reviewed in 20 patients diagnosed with Gaucher disease. Results: Eleven patients were diagnosed with non-neuronopathic type, 2 with acute neuronopathic type, and 7 with chronic neuronopathic type. Most patients presented with hepatosplenomegaly, thrombocytopenia, and short stature. In the neuronopathic group, variable neurological features, such as seizure, tremor, gaze palsy, and hypotonia, were noted at age $8.7{\pm}4.3$ years. B cell lymphoma, protein-losing enteropathy, and hydrops fetalis were the atypical manifestations. Biomarkers, including chitotriosidase, acid phosphatase, and angiotensin-converting enzyme, increased at the initial evaluation and subsequently decreased with enzyme replacement treatment (ERT). The clinical findings, including hepatosplenomegaly, thrombocytopenia, and skeletal findings, improved following ERT, except for the neurological manifestations. L444P was the most common mutation in our cohort. One novel mutation, R277C, was found. Conclusion: Although the clinical outcome for Gaucher disease improved remarkably following ERT, the outcome differed according to subtype. Considering the high proportion of the neuronopathic form in the Korean population, new therapeutic strategies targeting the central nervous system are needed, with the development of a new scoring system and biomarkers representing clinical courses in a more comprehensive manner.

• 대한세포병리학회지
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• 제5권1호
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• pp.74-78
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• 1994

A case of retroperitoneal paraganglioma is presented with fine needle aspiration cytologic features. A 57-year-old woman complained of abdominal discomfort and left flank pain for 2 years. The abdominal CT scan revealed an ovoid mass left to the abdominal aorta. Percutaneous fine needle aspiration was performed from the mass. The smear revealed cellular sheets or groups on hemorrhagic background. The tumor cells were ovoid, round to spindle shaped with mild to moderate cellular pleomorphism. The nuclei were round to ovoid and had evenly dispersed chromatin and small nucleoli. The cytoplasm was amphophilic, finely granular and poorly defined. Cells having large or spindle nuclei were quite frequently observed, however, mitosis was not present The cytologic findings suggested paraganglioma, but the frequent spindle cell pattern and the pleomorphism made it difficult to exclude other endocrine tumors and sarcomas. The clinical, histological and ultrastructural findings as well as cytologic findings contributed to confirmatory diagnosis.

• Annals of Clinical Neurophysiology
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• 제15권2호
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• pp.48-52
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• 2013

Background: Meralgia paresthetica (MP) is a mononeuropathy affecting the lateral femoral cutaneous nerve. The disease is often diagnosed clinically, but electrophysiological tests play an important role. The aim of this study is to clarify clinical characteristics of MP as well as the role of sensory nerve conduction study (NCS) in the diagnosis of MP. Methods: Sixty-five consecutive patients with clinical diagnosis of MP between March 2001 and June 2012 were retrospectively reviewed at a single tertiary center. General demographics, clinical characteristics and sensory NCS findings were investigated. Measurements of sensory NCS included the baseline-to-peak amplitude, side-to-side amplitude ratio and the conduction velocity. To compare between the normal and abnormal NCS groups, independent t-tests and chisquare test were performed. Results: Sixty-five patients had male predominance (56.9%) with mean age of $48.4{\pm}13.4$ years (range: 16-75). Seven patients (13.5%) had undergone operation or procedure before the symptom onset. The sensory nerve action potentials were obtainable in 52 (80%) of 65 clinically diagnosed MP patients. Sensory NCS revealed abnormalities in 38 patients (73.1%), and others (n=14, 26.9%) showed normal findings. Between the normal and abnormal NCS groups, there is no statistically significant difference on demographics or clinical features. Conclusions: We clarify the clinical features and sensory NCS findings of MP patients. Due to several limitations of sensory NCS, the diagnosis of MP could be accomplished both clinically and electrophysiologically.

• Annals of Clinical Neurophysiology
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• 제13권2호
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• pp.87-92
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• 2011

Background: Tarsal tunnel syndrome (TTS) is an entrapment neuropathy that occurs in the ankle. Previous studies reported that this disease was due to physiologic factors and structural lesions in the ankle or foot. The authors investigated the causative factors of TTS and their frequency via operative findings. The diagnostic value of MRI was also evaluated based on the concordance between the operative findings and the MRI findings. Methods: This study was performed in retrospective by using medical record of the patients who underwent operations with TTS from August 2003 to May 2010. Physical examination, nerve conduction study, and MRI were conducted on patients who visited department of neurology or orthopedic surgery due to pain and sensory abnormality of their ankle and foot. Results: 34 patients underwent the operation. Ganglion accounted for the largest portion of the operative findings. In addition, varicose veins, intrinsic foot muscle hypertrophy, tenosynovitis, and fascia thickening were mainly observed. Of the 34 patients, 33 patients underwent pre-operative MRI, of whom 18 patients showed MRI findings consistent with the operative findings. Conclusions: Space-occupying lesions accounted for the majority of the causative factors in TTS patients who underwent the surgical treatment. In this study, the MRI appeared useful for identifying causes of TTS.

• Journal of Gastric Cancer
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• 제17권3호
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• pp.255-266
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• 2017

Purpose: Although Roux-en-Y (R-Y) reconstruction after distal gastrectomy has several advantages, such as prevention of bile reflux into the remnant stomach, it is rarely used because of the technical difficulty. This prospective randomized clinical trial aimed to show the efficacy of a novel method of R-Y reconstruction involving the use of 2 circular staplers by comparing this novel method to Billroth-I (B-I) reconstruction. Materials and Methods: A total of 118 patients were randomly allocated into the R-Y (59 patients) and B-I reconstruction (59 patients) groups. R-Y anastomosis was performed using two circular staplers and no hand sewing. The primary end-point of this clinical trial was the reflux of bile into the remnant stomach evaluated using endoscopic and histological findings at 6 months after surgery. Results: No significant differences in clinicopathological findings were observed between the 2 groups. Although anastomosis time was significantly longer for the patients of the R-Y group (P<0.001), no difference was detected between the 2 groups in terms of the total surgery duration (P=0.112). Endoscopic findings showed a significant reduction of bile reflux in the remnant stomach in the R-Y group (P<0.001), and the histological findings showed that reflux gastritis was more significant in the B-I group than in the R-Y group (P=0.026). Conclusions: The results of this randomized controlled clinical trial showed that compared with B-I reconstruction, R-Y reconstruction using circular staplers is a safe and feasible procedure. This clinical trial study was registered at www.ClinicalTrials.gov (registration No. NCT01142271).

• Journal of Korean Neurosurgical Society
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• 제30권6호
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• pp.724-728
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• 2001

Objectives : Pituitary apoplexy is a well-described clinical syndrome resulting from pituitary hemorrhage, hemorrhagic infarction, or infarction, almost invariably occurring in the presence of an adenoma. We analyzed pituitary apoplexy with an emphasis on clinical presentation, pathology and predisposing factors. Methods : We reviewed 35 histologically proven pituitary adenomas, operated from January 1995 to August 1999, to select 8 cases which showed clinical or operative findings compatible with pituitary apoplexy. These patients were analyzed in terms of symptom and sign, hormonal status, and predisposing factors, pathologic findings. Results : Among 35 surgically treated tumors of the pituitary gland, 8 cases(23%) were diagnosed as pituitary apoplexy. The pathologic findings revealed hemorrhage(7 cases) and infarction(1 case) of pituitary adenomas. One case had predisposing factor of appendectomy. The most common presenting symptom and sign were sudden severe headache and visual disturbance. Conclusion : We treated pituitary apoplexy surgically and obtained good outcomes. Pituitary apoplexy due to massive infarction of the pituitary gland is very rare condition but surgical treatment by trans-spheniodal surgery showed a good result.

• 대한기관식도과학회지
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• 제17권2호
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• pp.104-107
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• 2011

Background and Objectives Scope classification is designed to classify acute epiglottitis according to laryngoscopic findings. There is no report about the utility of classification; the difference between the diagnosis and the prognosis by the Scope classification was not found. The aim of this study was to evaluate the utility of Scope classification in patients with acute epiglottitis. Subject and Method 127 patients who had been admitted to our hospital were diagnosed with acute epiglottitis. The patients were classified by the Scope classification. We compared demographic characteristics, clinical symptoms and signs, laboratory findings, and clinical course among the patient groups and divided the results according to the Scope classification. Results There are no significant differences among the groups in demographic characteristics, clinical symptoms and signs, laboratory findings, and clinical course. Conclusion The Scope classification of acute epiglottitis does not seem to be a method to evaluate the severity of acute epiglottitis. Thus, we need to develop multidisciplinary approaches for acute epiglottitis.

• Clinical and Experimental Pediatrics
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• 제65권1호
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• pp.21-28
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• 2022

Crohn disease (CD) is a multifactorial inflammatory disorder that can affect all segments of the gastrointestinal (GI) tract but typically involves the ileum and/or colon. To assess patient prognosis and choose appropriate treatment, it is necessary to accurately evaluate the factors influencing poor outcomes, including disease phenotype. Pediatric CD involving the upper GI (UGI) tract has become increasingly recognized with the introduction of routine upper endoscopy with biopsies for all patients and the increased availability of accurate small bowel evaluations. Most clinical manifestations are mild and nonspecific; however, UGI involvement should not be overlooked since it can cause serious complications. Although controversy persists about the definition of upper GI involvement, aphthoid ulcers, longitudinal ulcers, a bamboo joint-like appearance, stenosis, and fistula are endoscopic findings suggestive of CD. In addition, the primary histological findings, such as focally enhanced gastritis and noncaseating granulomas, are highly suggestive of CD. The association between UGI involvement and poor prognosis of CD remains controversial. However, the unstandardized definition and absence of a validated tool for evaluating disease severity complicate the objective assessment of UGI involvement in CD. Therefore, more prospective studies are needed to provide further insight into the standardized assessment of UGI involvement and long-term prognosis of CD. Our review summarizes the findings to date in the literature as well as UGI involvement in CD and its clinical implications.

• Asian Pacific Journal of Cancer Prevention
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• 제15권24호
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• pp.10643-10646
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• 2015

Background: To study the relationship between mammographic findings and clinical/pathologic features in women with 1-15mm sized invasive breast cancer. Materials and Methods: We investigated a consecutive series of 134 cases diagnosed in Tianjin Medical University Cancer Institute and Hospital in 2007. Mammographic findings were classified into five groups as follows :1) stellate mass without calcification; 2) non-stellate mass without calcification; 3) intermediate suspicious calcification with or without associated mass; 4) higher probability malignant calcification with or without associated mass; 5) focal asymmetry/distortion without associated calcification. Associations between mammographic and clinical/pathological features (menopause status/family history/histologic grade/lymph node status and ER/PR/HER2 status) was analyzed through logistic regression and chi square tests. Results: Compared to the stellate mass without calcification group, higher probability malignant calcification patients were associated significantly with a positive lymph node status, always presenting in patients who were non-menopausal and with a family history of carcinoma. Conclusions: Higher probability malignant calcifications with or without associated tumor masses are associated with clinical/pathologic features of poor prognosis.