• Title/Summary/Keyword: X-linked

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Clinical Study of Hypophosphatemic Rickets (저인산혈성 구루병에 대한 임상적 고찰)

  • Lee Chang-Jin;Cho Hee-Yeon;Kang Ju- Hyung;Shin Choong-Ho;Ha Il-Soo;Cheong Hae-Il;Yang Sei-Won;Choe Yong
    • Childhood Kidney Diseases
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    • v.8 no.2
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    • pp.195-204
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    • 2004
  • Purpose: Hypophosphatemic rickets is a hereditary disease, characterized by hypophosphatemia due to renal phosphate wasting, impaired renal production of 1,25-dihydroxyvitamin $D_3$, rachitic bone deformities and impaired growth. The purpose of this study is to provide clinical profiles of patients with hypophosphatemic rickets in our hospital. Methods: Between July 1983 and February 2004, 56 patients were diagnosed as having hypophosphatemic rickets. The medical records of these patients were reviewed retrospectively. Clinical manifestations, family histories, laboratory data, treatment outcomes were described. Results: Fifty six patients were enrolled in this study. The average age at symptom onset and diagnosis were 20 months and 5 years respectively. Fourteen patients had family histories. The main clinical manifestations were bow legs and short stature. There was a significant negative correlation between the ages and the height z-scores at the time of diagnosis(r=-0.47, P=0.005). Initial laboratory data showed normocalcemia, hypophosphatemia, elevated serum alkaline phosphatase, decreased tubular reabsorption of phosphate and a normal range of 1,25-dihydroxyvitamin $D_3$ Radiographic examinations of bone revealed fraying, widening and cupping of the metaphyseal ends. Treatment consisted of Joulie solution and vitamin D metabolites, and resulted in improved biochemical and radiographic findings. However, height z-scores remained essentially unchanged(P=0.224). Complications of treatment were frequently observed, including hyperparathyroidism, nephrocalcinosis, and hypercalciuria. Sixteen patients had corrective osteotomy and 4 of them underwent leg lengthening together. Conclusion: There was a gap of several years between the onset of symptoms and the diagnosis. Early treatment seems to be essential to growth. For the earlier treatment, the offsprings of affected parents should be followed up closely.

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Relationship between Expression of XIAP Protein in Operable Non-small Cell Lung Carcinomas and Apoptosis Index and Postoperative Prognosis (비소세포폐암조직에서 XIAP 발현과 고사지수 및 수술 후 예후와의 관계)

  • Kim, Sang Hyun;Lee, Chang Hun;Sol, Mee Young;Song, Jin Mi;Lee, Jong Hyub;Lee, Min Ki;Kim, Jong Min
    • Tuberculosis and Respiratory Diseases
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    • v.58 no.5
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    • pp.480-489
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    • 2005
  • Background : Dysregulation of apoptosis plays an important role in carcinogenesis, tumor progression, and resistance to chemotherapy. X-linked inhibitor of apoptosis (XIAP) is considered to be the most potent caspase inhibitor of all known IAP (inhibitor of apoptosis) family members. This study was designed to assess the pattern of expression and the prognostic value of XIAP in radically resected non-small cell lung carcinoma (NSCLC) patients. Method : The expression of XIAP and its relationship with clinicopathologic parameters (patient age, TNM stage, TNM-pT, TNM-pN, histologic type, VEGF expression, microvessel density, PCNA index) and overall survival were analysed with formalin-fixed, paraffin-embedded blocks from eighty cases of NSCLC. In addition, the apoptotic index (AI) was also assessed. Results : In a regard to histologic type, squamous cell carcinoma (SCC) showed XIAP expression in 91.3%(42/46) and adenocarcinoma (AC) in 61.8%(21/34). The difference was significant(p=0.001). There was no correlation between XIAP expression and other parameters. In the group of AC, XIAP expression showed the signifcant correlation with older age group ${\geq}58years$ and VEGF expression(p=0.028, p=0.014, respectively). The AI in the group with or without XIAP expression were $2.5{\pm}4.9%$ and $18.5{\pm}28.9%$, respectively(p=0.001). Both groups just aforementioned showed no significant difference in median survival time (42.5 months, 29.8 months, respectively). Conclusion : This study suggests that the XIAP expression in NSCLCs could have relation to inhibition of apoptosis, and show differential expression according to histologic type. However, its prognostic role during the progression of NSCLC needs to be further defined.

A Suggestion for Spatiotemporal Analysis Model of Complaints on Officially Assessed Land Price by Big Data Mining (빅데이터 마이닝에 의한 공시지가 민원의 시공간적 분석모델 제시)

  • Cho, Tae In;Choi, Byoung Gil;Na, Young Woo;Moon, Young Seob;Kim, Se Hun
    • Journal of Cadastre & Land InformatiX
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    • v.48 no.2
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    • pp.79-98
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    • 2018
  • The purpose of this study is to suggest a model analysing spatio-temporal characteristics of the civil complaints for the officially assessed land price based on big data mining. Specifically, in this study, the underlying reasons for the civil complaints were found from the spatio-temporal perspectives, rather than the institutional factors, and a model was suggested monitoring a trend of the occurrence of such complaints. The official documents of 6,481 civil complaints for the officially assessed land price in the district of Jung-gu of Incheon Metropolitan City over the period from 2006 to 2015 along with their temporal and spatial poperties were collected and used for the analysis. Frequencies of major key words were examined by using a text mining method. Correlations among mafor key words were studied through the social network analysis. By calculating term frequency(TF) and term frequency-inverse document frequency(TF-IDF), which correspond to the weighted value of key words, I identified the major key words for the occurrence of the civil complaint for the officially assessed land price. Then the spatio-temporal characteristics of the civil complaints were examined by analysing hot spot based on the statistics of Getis-Ord $Gi^*$. It was found that the characteristic of civil complaints for the officially assessed land price were changing, forming a cluster that is linked spatio-temporally. Using text mining and social network analysis method, we could find out that the occurrence reason of civil complaints for the officially assessed land price could be identified quantitatively based on natural language. TF and TF-IDF, the weighted averages of key words, can be used as main explanatory variables to analyze spatio-temporal characteristics of civil complaints for the officially assessed land price since these statistics are different over time across different regions.

Diagnosis and Treatment of Brown Tumor (Brown 종양의 진단 및 치료)

  • Cho, Yong Jin;Cho, Yung Min;Na, Seung Min;Jung, Sung-Taek
    • Journal of the Korean Orthopaedic Association
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    • v.55 no.1
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    • pp.54-61
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    • 2020
  • Purpose: Brown tumor is a tumor-like disease that can occur as a linked disease of hyperparathyroidism which can causes osteoporosis, osteitis fibrosa cystica, pathologic fractures. Brown tumor has been reported as a case report, but there is no comprehensive report on the exact diagnosis and principle of management for osseous lesion. The purpose of this study is to report the treatment and results of osseous lesions through 5 cases. Materials and Methods: From February 2004 to May 2015, five cases of Brown tumor were diagnosed in Chosun University Hospital and Chonnam National University Hospital orthopedic department. Medical records and radiographs were reviewed retrospectively. Parathyroid tumors were surgically removed, and surgical treatment and observation were performed for orthopedic osseous lesions. Results: The mean length of the long axis of the symptomatic osseous lesion was 6.2 cm (4.5-9.0 cm). An average of 7.6 (range, 3 to 14) of high uptake osseous lesion showed in whole body bone scan. The absolute value, T-score and Z-score of the vertebrae and proximal femur were adequate for diagnosis of osteoporosis using dual energy X-ray absorptiometry bone mineral density at diagnosis and recovered to normal at the last follow-up. In laboratory tests, serum concentrations of total calcium, ionized calcium, inorganic phosphorus, serum alkaline phosphatase, and parathyroid hormone were helpful to diagnosis and normalized upon successful removal of parathyroid adenoma or cancer. Conclusion: For accurate diagnosis of Brown tumor, it should be accompanied by systemic examination as well as clinical symptoms, laboratory tests and radiologic examination for osseous lesions. And a good prognosis can be expected if the hyperparathyroidism is treated together with the comprehensive treatment of osseous lesions.

The causative organisms of pediatric empyema in Korea (소아 농흉 원인균에 대한 다기관 연구(1999. 9-2004. 8))

  • Yum, Hye-yung;Kim, Woo Kyung;Kim, Jin Tak;Kim, Hyun Hee;Rha, Yeong Ho;Park, Yong Min;Sohn, Myung Hyun;Ahn, Kang Mo;Lee, Soo Young;Hong, Su Jong;Lee, Hae Ran
    • Clinical and Experimental Pediatrics
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    • v.50 no.1
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    • pp.33-39
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    • 2007
  • Purpose : In spite of medical advances, empyema is a serious complication of pneumonia in children. Vaccination practices and antibiotic prescribing practices promote the change of clinical manifestations of empyema and causative organisms. So we made a nationwide clinical observation of 122 cases of empyema in children from 32 hospitals during the 5 year period from September 1999 to August 2004. Methods : Demographic data, and clinical information on the course and management of empyema patients were collected retrospectively from medical records in secondary and tertiary hospitals in Korea. Results : One hundred twenty two patients were enrolled from 35 hospitals. The most frequent age group was 1-3 years, accounting for 48 percent of all cases. The male to female sex ratio was 1.2:1. The main symptoms were cough, fever, respiratory difficulty, lethargy and chest pain in order of frequency. Hematologic findings on admission revealed decreased hemoglobin levels ($10.4{\pm}1.6g/dL$) and increased leukocyte counts ($16,234.3{\pm}10,601.8/{\mu}L$). Pleural fluid obtained from patients showed high leukocyte counts ($30,365.8{\pm}64,073.0/{\mu}L$), high protein levels ($522.3{\pm}1582.3g/dL$), and low glucose levels ($88.1{\pm}523.5mg/dL$). Findings from pleural fluid cultures were positive in 80 cases(65.6 percent). The most common causative agent was Streptococcus pneumoniae. The majority of patients were treated with antibiotics and closed drainage. Some patients needed open drainage (16.4 percent) or decortication (3.3 percent). The mean duration of hospitalization was $28.6{\pm}15.3days$. Conclusion : We analyzed childhood empyema patients during a period of 5 years in Korean children. The most frequent age group was 1-3 years and the most common causative agent was Streptococcus pneumoniaeiae. The majority of patients were treated with antibiotics and close drainage.