• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.3
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• pp.148-154
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• 2016

A urea cycle disorder is a condition caused by a defect of the enzymes in the urea cycle, and deficiency of ornithine transcarbamylase (OTC), which converts carbamoyl phosphate and ornithine into citrulline, is the most common type of the disorder. OTC deficiency induces the accumulation of precursors of urea, ammonia, and glutamine, leading to neurological symptoms including hypotonia, respiratory failure, seizure, lethargy, and coma and sometimes to death. Because OTC deficiency is inherited in an X-linked manner, typical symptoms such as vomiting, poor feeding, and lethargy appear mainly in male neonates. We recently had a case that presented with neonatal onset lethargy, vomiting, and apnea in a 4-day-old boy. He was diagnosed with OTC deficiency by biochemical phenotype, including hyperammonemia and an increased orotic acid level in the urine. Genetic analysis of the OTC gene showed a novel mutation c.780_781insCAGGCAGTGT (p.Ile261Glnfs*35). He was treated for hyperammonemia using continuous venovenous hemofiltration (CVVH) at 118 hours after birth. After 4 days of CVVH, his consciousness and blood ammonia concentration were normalized, and he was discharged at the age of 53 days. At around 12 months of age, bilateral femur fractures and osteomyelitis occurred in this patient. Two months after the fracture, he died of septic shock, insulin-resistant hyperglycemia, and multi-organ failure.

• The Korean Journal of Food And Nutrition
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• v.26 no.3
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• pp.383-390
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• 2013

Mistlero C was shown to be non-genotoxic in a series of genotoxicity tests, including a bacterial reverse mutation test and a combined in vivo mammalian erythrocyte micronucleus test. In a bacterial reverse mutation assay, no significant increases in the number of revertant colonies, compared to the negative control, was detected in $5,000{\mu}g/plate$ of Mistlero C. In addition, with Mistlero C, no changes were shown in the number of micronucleated polychromatic erythrocytes (MNPCE) among 2,000 polychromatic erythrocytes compared to the negative control. Mistlero C was administered orally in rats to investigate acute toxicity. The $LD_{50}$ values in rats were above 2,000 mg/kg. In a repeated dose, 13-week, oral toxicity study conducted in rats, no compound-related adverse effects were shown at doses of Mistlero C of up to 1,000 mg/kg body weight/day. The results of these studies support the safe use of Mistlero C in food for human consumption.

• Tuberculosis and Respiratory Diseases
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• v.59 no.5
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• pp.566-570
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• 2005

Primary pulmonary non-Hodgkin's lymphoma (NHL) account for 0.4% of all types of lymphoma. Most cases are of the mucosa-associated lymphoid tissue (MALT) type, low grade B-cell lymphoma, but cases of the T-cell type are rare. The radiological findings frequently show hilar or mediastinal lymphadenopathy, but lung parenchymal involvement is uncommon. Here, a case of a patient, who presented with fever, generalized erythema, diffuse pulmonary infiltration and pleural effusion, diagnosed as a peripheral T-cell lymphoma, is reported.

• The Journal of the Korea Contents Association
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• v.12 no.6
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• pp.353-360
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• 2012

The purpose of this study was to determine whether there are relationships between radiologic parameters for osteoporosis by the proximal femur radiograhps and bone mineral density, as assessed by Dual Energy X-ray Absorptiometry(DEXA). Proximal femur anterior-posterior projection were taken from 112 individuals who undergoing DEXA. Radiographic parameters including canal-to-calcar ratio(CCR) and cortical thickness indices(CTI) were measured and compared with bone mineral density($g/cm^2$), T-score. The intramedullary femoral canal width(FW) and calcar width(CW) at osteoporosis group was significantly larger than that of control group. The CCR were correlated negatively with bone mineral density($g/cm^2$)(r=-0.340, p<0.01), and the CTI were correlated positively(r=0.624). The diagnostic accuracy of CCR for osteoporosis was 63.4%, and kappa value was 0.271. And the accuracy of CTI was 67.0%, and kappa value was the level of fair agreement(${\kappa}$=0.258). The proximal femur with large CCR and small CTI had lower T-scores. When evaluating proximal femur anterior-posterior radiographs, those patients with the thinnest femur diaphyseal cortices should be referred for further osteoporosis investigation.

• The Journal of the Korean bone and joint tumor society
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• v.8 no.1
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• pp.20-26
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• 2002

Fibrous dysplasia is a benign pathologic condition in which the normal cancellous bone is replaced by the fibro-osseous tissue. It is found mostly in the femur, tibia, skull, rib, and humerus. Clinically it may develops pain, progressive deformity, and pathologic fracture. Curettage with bone graft has been the most popular treatment method thesedays. A 17-year-old female who had fibrous dysplasia of the humerus combined with multiple cystic lesion was treated by intralesional steroid injection into the lesion total 2 times. The follow-up plain X-ray which was taken 11 months after steroid injection reveals decrease in size and increase in bone density and cortex thickness. The follow-up MRI reveals significant decrease in size and signal intensity. The signal intensity was decreased to that of normal bone marrow in T2 weighted image. She complains no pain and lives symptom free in last follow-up at 2 years and 8 months after steroid injection.

• Pediatric Infection and Vaccine
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• v.30 no.1
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• pp.33-38
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• 2023

A case of persistent Ralstonia mannitolilytica bacteremia in the neonatal intensive care unit prompted source investigation due to its rarity. After an extensive investigation, a contaminated ultrasonic nebulizer was identified as the source, and the infection was controlled by removing the source. This study emphasizes the importance of further investigations, even in single cases of rare pathogens.

• The Korean Journal of Nuclear Medicine
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• v.33 no.4
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• pp.413-421
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• 1999

Purpose: This study was performed to evaluate the usefulness of $^{99m}Tc$-HMPAO-labelled leucocyte scintigraphy for diagnosing prosthetic infection after total knee replacement arthroplasty without the aid of following bone marrow scintigraphy Materials and Methods: The study subjects were 25 prostheses of 17 patients (one man and 16 women, mean age. 65 years) who had total knee replacement arthroplasty. After injection of $^{99m}Tc$-HMPAO-labelled leucocyte, the whole body planar and knee SPECT images were obtained in all patients. The subjects were classified into three groups according to clinical suspicion of prosthetic infection. Group A (n=11) with high suspicion of infection; Group B (n=6) with equivocal suspicion of infection, and Group C (n=8) with asymptomatic contralateral prostheses. Final diagnosis of infection was based on surgical, histological and bacteriological data and clinical follow-up. Results: Infection was confirmed in 13 prostheses (11 in Group A and 2 in Group B). All prostheses in Group A were true positive. There were two true positives, one false positive and three true negatives in Group B, and six true negatives and two false positives in Group C. Overall sensitivity, specificity, and accuracy for diagnosis of the infected knee prosthesis were 100%, 75% and 88%, respectively Conclusion: $^{99m}Tc$-HMPAO-labelled leucocyte scintigraphy is a sensitive method for the diagnosis of infected knee prosthesis. However, false positive uptakes even in asymptomatic prosthesis suggest that bone marrow scintigraphy may be needed to achieve improved specificity.

• Clinical and Experimental Pediatrics
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• v.51 no.1
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• pp.67-72
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• 2008

Purpose : In this study, we retrospectively analyzed the clinical outcomes of patients who underwent allogeneic hematopoietic stem cell transplantation (HSCT) grafted from HLA-matched parents. Methods : Seven children with acute leukemia (4 acute lymphoblastic leukemia, 3 acute myeloid leukemia) in first complete remission received allogeneic HSCT from their respective parents at the St. Marys Hospital between April, 1999 and October, 2005. The median age of patients at transplantation was 5 years (range, 1-11 years; 2 male, 5 female) and the median age of donors was 35 years (range, 30-41 years; 5 male, 2 female). We investigated the clinical outcomes such as engraftment, acute and chronic graft-versus-host disease (GVHD), transplant-related morbidity and mortality, relapse and survival. Results : Median time from transplantation to last follow-up was 69.5 months (range, 18.8-96.5 months). All patients were successfully engrafted, with a median time of 11 days (range, 10-16 days) and 26 days (range, 13-39 days) for neutrophil and platelet recovery, respectively. Grade II acute GVHD occurred in 3, and grade III acute GVHD in 1 of 7 recipients. Extensive chronic GVHD developed in 2, and limited chronic GVHD in 1 of 7 recipients. Death from transplant-related complications occurred in 1, and relapse occurred in 1 of 7 recipients. Estimated 5-year overall survival was $83{\pm}15%$. Conclusion : The clinical outcomes of recipients who underwent HSCT from HLA-matched parents were comparable to those of patients who received HSCT grafted from HLA-matched sibling donors in childhood leukemia. HLA typing of parents, as well as siblings will increase the likelihood of finding an HLA-matched family donor for patients who need HSCT.

• Childhood Kidney Diseases
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• v.2 no.1
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• pp.41-49
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• 1998

Treatment of $Henoch-Sch\"{o}nlein$ purpura nephritis(HSPN) accomanied by nephrotic syndrome is still controversal, even though both corticosteroids and immunosuppressants have been used for therapy. Azathioprine(AZA) is a chemical analog of the physiologic purines-adenine, guanine, and hyoxanthine and an antagonist to purine metabolism which may inhibit RNA and DNA synthesis and is mainly used for immunosuppressive agent. We studied the effects of AZA in HSPN accompanied by nephrotic syndrome and evaluating the clinical status and histopathologic changes by sequential biopsies following the treatment. Fifteen patients with nehprotic syndrome either initially or during the course of HSPN confirmed by renal biopsies were treated with AZA(2 mg/kg/day) and prednisolone (0.5-1 mg/kg/day qod) for 8months. Folow up renal biopsy was done after treatment in 11 patients. The clinical status of the patients on admission were C(12 cases) and B(3 cases). Improvement of clinical status were showed in 12 cases, but 3 cases were not improved and 1 case was aggrevated after AZA treatment. Complete remission of proteinuria were in 8 cases(53.3%), partial remission were in 4 cases(26.7%) and persistence of proteinuria and hematuria were in 3 cases(20.0%). The loss of hematuria were in 10 cases(66.7%). Histopathologically and immunopathologically, 4 cases were improved. This study suggests that, although control studies are needed, AZA could be used in the treatment of HSPN accompanied by nephrotic syndrome.

• The Journal of the Korean bone and joint tumor society
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• v.10 no.2
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• pp.71-78
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• 2004

Purpose: The purpose of this study is to investigate the characteristic of recurred giant cell tumor after bony curettage and cementation, and to review a way to prevent the recurrence. Materials and Methods : Thirty seven cases were analyzed, which were pathologically diagnosed giant cell tumor after diagnostic biopsy or surgical excision, followed by curative curettage, burring and cementation. Location, character, and time interval to recurrence were reviewed. Results: Thirteen out of thirty seven analyzed cases(35%) showed recurrence after primary curettage and cementation. The mean interval to recurrence was sixteen months(5 months to 43 months). Most of recurrence happened within the first two years except two cases. Among the recurred cases, eleven showed recurrence in the vicinity of window area. Two cases recurred in the depth of bone marrow, where cementation was made. The advantage of curettage and cementation is the immediate stability of the operation site, early rehabilitation, and early detection of recurrence. Furthermore, cementation is beneficial in that the cement-producing heat can eradicate the residual tumor burden. In this study, 85% of cases with insufficient curettage (for example, in cases where too small surgical window was made, or where there were anatomical difficulty in approaching the target tumor burden) showed recurrence. Conclusion: Bony curettage, burring and cementation is widely used as the primary curative modality for giant cell tumor. A few other modalities such as chemical cautery using phenol and $H_2O_2$; cryotherapy; and anhydroalcohol have also been introduced, but the benefit of these are still questionable. For some cases that relatively small surgical window was made due to anatomically complicated structures (such as ligament insertion or origin site) over the target tumor burden, unsatisfactory curettage and burring was made. This study showed high chance of recurrence after unsatisfactory curettage, and 85% of recurrence developed in the vicinity of the small window area. Most of the recurrence occurred within the first two years. It is concluded that sufficient window opening, extensive curettage and eradicative burring are key factors to prevent recurrence. Also, it should be reminded that careful and close observation should be made for at least the first two years after initial treatment for early detection of recurrence.