X-linked sideroblastic anemia (XLSA) is a rare hereditary disease characterized by microcytic hypochromic anemia, ineffective erythropoiesis and the presence of numerous ringed sideroblasts in the bone marrow. The causative gene is the erythroid delta-aminolaevulinate synthase 2 gene (ALAS2) on Xp11.21. We report here a case of XLSA. The patient was a 20-year-old Korean man referred to our hospital under the impression of sideroblastic anemia (SA). Laboratory findings, including a peripheral blood smearand bone marrow study, were compatible with SA. The family history was not remarkable. Based on the early age of onset, we suspected a hereditary form of SA, particularly XLSA. Direct DNA sequencing of ALAS2 detected a hemizygous c.509G>A (R170H) mutation in exon 5 of the gene. The patient showed minimal response to pyridoxine treatment. To the best of our knowledge, this is the first case of genetically confirmed XLSA from a mutation in ALAS2 in Korea.
Age of Onset ; Anemia, Hypochromic ; Anemia, Sideroblastic ; Bone Marrow ; Erythropoiesis ; Exons ; Genetic Diseases, Inborn ; Genetic Diseases, X-Linked ; Humans ; Korea ; Male ; Pyridoxine ; Sequence Analysis, DNA ; Young Adult

PURPOSE: To evaluate the results of transpupillary thermotherapy combined with chemotherapy for the treatment of retinoblastoma. METHODS: Retinoblastoma patients treated with chemotherapy and transpupillary thermotherapy from November, 2004 to October, 2007 were retrospectively reviewed. Local tumor control was assessed in terms of regression or recurrence, at 1 month after chemotherapy and each session of thermotherapy, as well as the final follow-up period. RESULT: Fifty-nine tumors were treated in 15 eyes of 11 children. Age at diagnosis was 7.4+/-6.9 months. Mean tumor diameter at the time of diagnosis was 2.2+/-2.1 disc diameters (DD) and mean tumor diameter at the time of initial thermotherapy was 1.8+/-1.7DD. Mean number of thermotherapy sessions for each tumor was 1.3+/-0.5. Total tumor regression was obtained for 96.6% of tumors after a mean follow-up of 22.3+/-10.7 months. The initial tumor size before thermotherapy was significantly smaller in the group of tumors showing total regression after the first session of thermotherapy. The time required for total regression after initial thermotherapy was related to the initial tumor size before thermotherapy. CONCLUSIONS: Transpupillary thermotherapy combined with chemotherapy is an effective modality for treating retinoblastoma, and the initial tumor diameter before treatment is a strong predictive factor of successful treatment response.
Child ; Eye ; Follow-Up Studies ; Humans ; Hyperthermia, Induced ; Recurrence ; Retinoblastoma ; Retrospective Studies

Aanaplastic lymphoma kinase (ALK)-positive diffuse large B-cell lymphoma (DLBCL) is an unusual disease entity first reported in 1997 as DLBCL with expression of full-length ALK protein. The World Health Organization classification enlists the disease as a rare variant of DLBCL. Herein we describe two cases of ALK-positive DLBCL with cytomorphologic and molecular characteristics for the first time in Korea. The patients were 35-yr-old and 24-yr-old male patients. Immunohistochemical studies on the lymph nodes revealed large sized neoplastic cells with plasmablastic differentiation, which were negative for CD30 and positive for ALK with the characteristic granular staining in the cytoplasmic region. Extensive involvement of bone marrow was observed in both cases showing large, extremely atypical cells. Fluorescence in situ hybridization and molecular studies on the bone marrow aspirate specimens led to the detection of a clathrin (CLTC)/ALK rearrangement. Despite aggressive chemotherapy, the patients died 15 and 17 months after the diagnosis, indicating poor prognosis of the disease entity. This is the first report demonstrating the cytomorphologic findings of ALK-positive DLBCL cells on bone marrow aspirates.
Adult ; Bone Marrow/*pathology ; Clathrin/*genetics ; Fatal Outcome ; *Gene Fusion ; Humans ; Immunohistochemistry ; In Situ Hybridization, Fluorescence ; Lymphoma, Large B-Cell, Diffuse/*genetics/metabolism/*pathology ; Male ; Protein-Tyrosine Kinases/*genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Analysis, DNA

PURPOSE: To evaluate the efficacy of primary chemotherapy combined with local therapy in the treatment of retinoblastomas not treatable with a single therapeutic method. METHODS: We performed a retrospective chart review of 227 patients diagnosed with retinoblastoma. Sixty-five eyes in 52 patients had tumors not treatable with a single therapeutic method and received primary chemotherapy combined with local therapy as needed. RESULTS: Tumor control and eye salvage was achieved in 34 of the 65 eyes; the probability of ocular survival was 46.56% using the Kaplan-Meier method. Forty-three of the 65 eyes were group D or E tumors, in which tumor control and eye salvage was achieved in 16 eyes. Twenty eyes were treated with chemotherapy only, while 28 eyes received one additional modality of local therapy, and 17 eyes received two modalities of local therapy. Of the eyes treated with chemotherapy only, tumor control was achieved in 5 eyes. CONCLUSIONS: Primary chemotherapy combined with local therapy can be effective and safe in the treatment of retinoblastomas otherwise untreatable with other therapeutic methods, such as group D and E retinoblastomas. More vigorous treatment with more local therapeutic methods combined may yield even better results.
Antineoplastic Agents/*therapeutic use ; Child, Preschool ; Cryotherapy/*methods ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Humans ; Hyperthermia, Induced/*methods ; Infant ; Infant, Newborn ; Laser Coagulation/*methods ; Male ; Ophthalmoscopy ; Retinal Neoplasms/diagnosis/physiopathology/*therapy ; Retinoblastoma/diagnosis/physiopathology/*therapy ; Retrospective Studies ; Tomography, X-Ray Computed ; Treatment Outcome ; *Visual Acuity

Pulmonary cryptococcosis is rare in immunocompetent subjects. Here, we present the case of a 16-year-old boy who was referred to our pediatric department for the management of multiple consolidations detected on chest radiography, which was routinely performed when the patient was being evaluated for an ankle fracture. Fine needle aspiration biopsy was performed, and the definitive diagnosis was established as cryptococcal pneumonia. After 8 weeks of antifungal treatment, the pulmonary nodules on the chest radiographs disappeared.
Adolescent ; Animals ; Ankle ; Biopsy ; Biopsy, Fine-Needle ; Child ; Cryptococcosis ; Humans ; Multiple Pulmonary Nodules ; Pneumonia ; Thorax

Congenital bronchial stenosis is a rare condition with variable symptoms of presentation. Affected patients are usually asymptomatic, but because of the reduced airway, cough, cyanosis and respiratory distress may be presented. We report a 19 month-old girl with a recurrent history of severe wheezing, dyspnea and cyanosis accompanied by lower respiratory tract infections. Young children with severe respiratory symptoms and no immunological abnormalities must be suspected of airway structural abnormalities.
Child ; Constriction, Pathologic ; Cough ; Cyanosis ; Dyspnea ; Humans ; Organic Chemicals ; Respiratory Sounds ; Respiratory System ; Respiratory Tract Infections

PURPOSE: Viral infection is known as one of the dominant risk factors for wheezing in children hospitalized before 2 years of age. Although the major viral pathogen associated with wheezing is respiratory syncytial virus (RSV), the mechanisms of wheezing remain unclear. Vascular endothelial growth factor (VEGF) is a major mediator of angiogenesis and vascular permeability. The aim of this study was to evaluate the relationship between VEGF concentration and wheezing in children with acute RSV bronchiolitis. METHODS: Ninety-four children with acute bronchiolitis who were admitted to Korea University Anam Hospital were enrolled in this study. Based on the proven viral agents, children with bronchiolitis were divided into 2 groups: those who were infected with RSV (RSV (+) group, n=51) and those who were not (RSV (-) group, n=43). A complete history taking, physical examination and routine laboratory tests were performed on all children. VEGF levels in serum and nasopharyngeal aspirates (NPA) were determined by ELISA. RESULTS: NPA VEGF levels were significantly higher in the RSV (+) group than in the RSV (-) group (331.8+/-197.8 vs. 204.5+/-97.0 pg/mL, P=0.002). The duration of wheezing is significantly longer in the RSV (+) group than in the RSV (-) group (3.8+/-2.7 days vs. 2.4+/-1.8 days, P=0.037). CONCLUSION: The results of this study suggest that children with RSV bronchiolitis may have significantly higher NPA VEGF levels than those without, which may be associated with a longer duration of wheezing in those with RSV bronchiolitis.
Bronchiolitis ; Capillary Permeability ; Child ; Enzyme-Linked Immunosorbent Assay ; Humans ; Korea ; Physical Examination ; Respiratory Sounds ; Respiratory Syncytial Viruses ; Risk Factors ; Vascular Endothelial Growth Factor A ; Vascular Endothelial Growth Factors

PURPOSE:The mean height of Korean children has been increased recently, and new version of growth chart was made in 2007. Nevertheless, the reference value on bone mineral density (BMD) of normal children has not been established yet. The aims of this study were to obtain mean values of BMD in normal children and to investigate correlation between BMD and their relating factors. METHODS:One hundred thirty five normal children from 6 to 14 years old were included, who were 69 boys and 66 girls. Bone density was measured at the lumbar spine and the proximal femur by dual energy x-ray absorptiometry (Discovery A, Hologic, 2004). We assessed bone age, body mass index, bone alkaline phosphatase, insulin-like growth factor I (IGF-I), sex steroid level and analyzed their correlation with BMD. Results:The result showed a trend of an increase in BMD according to the age in both boys and girls. The mean value of BMD showed the greatest increase during age of 10 to 11 in girls and 12 to 13 in boys. A sudden increase of BMD in both boys and girls occurred during the overt puberty. Bone age and IGF-I level indicated the most significant relating factors of BMD of lumbar spine. The mean values of BMD of this study were similar to the previous studies about BMD of Korean children. CONCLUSION:The results could be utilized as fundamental data for normal BMD value of Korean children and larger population study is needed.
Absorptiometry, Photon ; Adolescent ; Age Determination by Skeleton ; Alkaline Phosphatase ; Body Mass Index ; Bone Density ; Child ; Femur ; Growth Charts ; Humans ; Insulin-Like Growth Factor I ; Puberty ; Reference Values ; Spine

Data on the frequency of nosocomial infections during extracorporeal membrane oxygenation (ECMO) in adult populations remain scarce. We investigated the risk factors for nosocomial infections in adult patients undergoing venoarterial ECMO (VA-ECMO) support. From January 2011 to December 2015, a total of 259 patients underwent ECMO. Of these, patients aged 17 years or less and patients undergoing ECMO for less than 48 hours were excluded. Of these, 61 patients diagnosed with cardiogenic shock were evaluated. Mean patient age was 60.6 ± 14.3 years and 21 (34.4%) patients were female. The mean preoperative Sequential Organ Failure Assessment (SOFA) score was 8.6 ± 2.2. The mean duration of ECMO support was 6.8 ± 7.4 days. The rates of successful ECMO weaning and survival to discharge were 44.3% and 31.1%, respectively. There were 18 nosocomial infections in 14 (23.0%) patients. These included respiratory tract infections in 9 cases and bloodstream infections in a further 9. In multivariate analysis, independent predictors of infection during ECMO were the preoperative creatinine level (hazard ratio [HR], 2.176; 95% confidence interval [CI], 1.065–4.447; P = 0.033) and the duration of ECMO support (HR, 1.400; 95% CI, 1.081–1.815; P = 0.011). A higher preoperative creatinine level and an extended duration of ECMO support are risk factors for infection. Therefore, to avoid the development of nosocomial infections, strategies to shorten the length of ECMO support should be applied whenever possible.

PURPOSE: To evaluate the efficacy and safety of BOTULAX® in subjects with essential blepharospasm.METHODS: In this study, a total of 250 subjects with essential blepharospasm were enrolled at 15 investigational sites and a total of 220 subjects completed the study. The efficacy and safety were evaluated at weeks 4 and 16 after treatment compared with baseline. In total, 240 subjects were enrolled, treated with the investigational product, and evaluable for the primary efficacy assessment at week 4 after treatment; these subjects were included in the intention-to-treat (ITT) population. With the ITT set as the main efficacy set, efficacy assessment included Jankovic rating scale (JRS), functional disability score, investigator evaluation of global response and quality of life. Safety assessment including the incidence of adverse events was also performed.RESULTS: In terms of the primary efficacy endpoint (i.e., change in JRS total score at week 4 after treatment from baseline [ITT set]), mean change indicated a statistically significant reduction (p < 0.0001) and demonstrated the non-inferiority of the test drug to similar drugs. In terms of the secondary efficacy endpoints, mean change in JRS total score at week 16 after treatment and mean change in functional disability score at weeks 4 and 16 after treatment both exhibited a statistically significant reduction compared with baseline (p < 0.0001 for all). Among the 249 subjects treated with the investigational product in this study, 44 (17.67%) experienced 76 treatment emergent adverse events but no serious adverse events were observed.CONCLUSIONS: Based on the study results, BOTULAX® is considered to be an effective and safe treatment for essential blepharospasm.