Camurati-Engelmann disease (CED) is an autosomal dominant progressive diaphyseal dysplasia caused by mutations in the transforming growth factor-beta1 (TGFB1) gene. We report the first Korean family with an affected mother and son who were diagnosed with CED. The proband is a 19-yr-old male with a history of abnormal gait since the age of 2. He also suffered from proximal muscle weakness, pain in the extremities, and easy fatigability. Skeletal radiographs of the long bones revealed cortical, periosteal, and endosteal thickenings, predominantly affecting the diaphyses of the upper and lower extremities. No other bony abnormalities were noted in the skull and spine and no remarkable findings were seen on laboratory tests. The patient's mother had a long-standing history of mild limb pain. Under the impression of CED on radiographic studies, we performed mutation analysis. A heterozygous G to A transition at cDNA position +653 in exon 4 of the TGFB1 gene (R218H) was detected in the patient and his mother.
Adult ; Amino Acid Substitution ; Camurati-Engelmann Syndrome/*diagnosis/radiography ; DNA Mutational Analysis ; Diaphyses/radiography ; Heterozygote ; Humans ; Korea ; Male ; Muscle Weakness/radiography ; Pedigree ; Transforming Growth Factor beta1/*genetics

No abstract available.
Lipomatosis* ; Neoplasm Metastasis* ; Small Cell Lung Carcinoma*

PURPOSE: To evaluate the long-term results of treatment of epiphyseal fractures of the distal radius in children. MATERIALS AND METHODS: 23 cases of distal radial epiphyseal fracture, treated by two methods: group 1, closed reduction (CR) plus cast (6 cases); group 2, CR and K-wire fixation (under anesthesia due to marked translation of the distal fragment and swelling) plus cast (17 cases), were selected for this study. All patients were followed up for more than 1 year (average: 3.2 years). Postoperatively, epiphyseal displacement and epiphyseal angulation were measured on anteroposterior and lateral radiographs. At follow-up, the affected and normal sides were compared. Final results were classified by radiologic (radial inclination, volar tilting and radial shortening) and clinical (limitation of ROM, wrist pain, grip strength and wrist deformity) criteria. RESULTS: Group 1 had 5 good, 1 fair result; group 2 had 14 good, 2 fair and 1 poor - there was no statistically significant difference between two groups. All cases where the epiphyseal displacement was less than 30% had good results. A poor case showed a radial shortening, wrist deformity and pain due to premature epiphyseal closure. Premature epiphyseal closure was treated by bar resection and free fat, along with corrective osteotomy when necessary and lengthening of radius with or without epiphysiodesis of the ulna. CONCLUSION: Remodeling can be expected in epiphyseal fractures of the distal radius. Repeated forceful attempts to achieve accurate reduction should be avoided to prevent secondary physeal injury.
Anesthesia ; Child ; Congenital Abnormalities ; Displacement (Psychology) ; Follow-Up Studies ; Hand Strength ; Humans ; Osteotomy ; Radius ; Wrist

PURPOSE: This study aimed to test whether rotavirus-associated necrotizing enterocolitis (RV+NEC) produced diffe rent clinical findings or outcomes from those of non-rotavirus necrotizing enterocolitis (RV-NEC). METHODS: Eight patients from the RV+NEC group and 22 patients from the RV-NEC group diagnosed with modified Bell stage II or higher NEC were selected for this study. Fecal specimens from all infants were tested for rotavirus infection using a monoclonal antibody-based enzyme immunoassay (EIA). Clinical, radiographic, and clinical outcome data were analyzed retrospectively. RESULTS: RV+NEC infants had a significantly higher birth weight and were born at a significantly higher gestational age (33.5+/-3.3 weeks vs. 29.3+/-4.4 weeks; P=0.01). There were no differe nces in the occurrence of thrombocytopenia, mural gas, and pneumoperitoneum between the 2 groups. However, portal vein gas was more common in the RV+NEC group (88% vs. 9%; P<0.01). Neither the incidence of Bell stage III (or higher) NEC nor surgical inte rvention differed between the two groups. The number of complications and mortality rates were also similar. CONCLUSION: Rotavirus-associated NEC occurs in infants with a higher birth weight and those born at a greater gestational age. However, the severity of the condition and the resulting outcomes did not differ from those for infants affected by non-rotavirus NEC.
Birth Weight ; Enterocolitis ; Enterocolitis, Necrotizing ; Gestational Age ; Humans ; Immunoenzyme Techniques ; Incidence ; Infant ; Infant, Newborn ; Pneumoperitoneum ; Portal Vein ; Retrospective Studies ; Rotavirus Infections ; Thrombocytopenia

We report a case of 51-year-old woman with pure unroofed coronary sinus without persistent left superior vena cava and other cardiac anomaly. She presented with dyspnea on exertion during several years. Her chest film showed prominent cardiomegaly and dilated hilar vessels. Cardiac rhythm was atrial fibrillation. Transthoracic echocardiography demonstrated the enlarged coronary sinus with defect toward left atrium on parasternal long axis view and significant flow from coronary sinus into right atrium on subxyphoid view, and its other findings were dilated right ventricle and right atrium, paradoxical septal motion, moderate tricuspid regurgitation and mild mitral regurgitation, which were mimicking of large secundum atrial septal defect. Radionuclide cardioangiography and cardiac catheterization showed the existence of significant shunt. There was no evidence of persistent left superior vena cava on chest CT. Closure of Coronary sinus opening was done. Thereafter her symptoms of congestive heart failure were much improved. We think that careful examination of 2-D echocardiography can be valuable tool for diagnosis of unroofed coronary sinus in adult patient.
Adult ; Atrial Fibrillation ; Axis, Cervical Vertebra ; Cardiac Catheterization ; Cardiac Catheters ; Cardiomegaly ; Coronary Sinus* ; Diagnosis ; Dyspnea ; Echocardiography ; Female ; Heart Atria ; Heart Failure ; Heart Septal Defects, Atrial ; Heart Ventricles ; Humans ; Middle Aged ; Mitral Valve Insufficiency ; Thorax ; Tomography, X-Ray Computed ; Tricuspid Valve Insufficiency ; Vena Cava, Superior*

High mobility group box 1 (HMGB1) is a pivotal mediator of sepsis progression. Remifentanil, an opioid agonist, has demonstrated anti-inflammatory effects in septic mice. However, it is not yet known whether remifentanil affects the expression of HMGB1. We investigated the effects of remifentanil on HMGB1 expression and the underlying mechanism in septic rats. Forty-eight male Sprague-Dawley rats were randomly divided into 3 groups; a sham group, a cecal ligation and puncture (CLP) group, and a CLP with remifentanil treatment (Remi) group. The rat model of CLP was used to examine plasma concentrations of proinflammatory cytokines, tissue HMGB1 mRNA and the activity of nuclear factor (NF)-κB in the liver, lungs, kidneys, and ileum. Pathologic changes and immunohistochemical staining of NF-κB in the liver, lungs, and kidneys tissue were observed. We found that remifentanil treatment suppressed the level of serum interleukin (IL)-6 and tumor necrosis factor (TNF)-α 6 hours after CLP, and serum HMGB1 24 hours after CLP. HMGB1 mRNA levels and the activity of NF-κB in multiple organs decreased by remifentanil treatment 24 hours after CLP. Remifentanil treatment also attenuated nuclear expression of NF-κB in immunohistochemical staining and mitigated pathologic changes in multiple organs. Altogether, these results suggested that remifentanil inhibited expression of HMGB1 in vital organs and release of HMGB1 into plasma. The mechanism was related to the inhibitory effect of remifentanil on the release of proinflammatory cytokines and activation of NF-κB.
Animals ; Cytokines ; HMGB1 Protein ; Humans ; Ileum ; Inflammation ; Interleukins ; Kidney ; Ligation ; Liver ; Lung ; Male ; Mice ; Models, Animal ; Plasma ; Punctures ; Rats* ; Rats, Sprague-Dawley ; RNA, Messenger ; Sepsis ; Tumor Necrosis Factor-alpha

BACKGROUND: We report a case of a spray painter who developed malignant fibrous histiocytoma (MFH) of the maxillary sinus following long-term exposure to chromium, nickel, and formaldehyde, implying that these agents are probable causal agents of MFH. CASE REPORT: The patient developed right-sided prosopalgia that began twenty months ago. The symptom persisted despite medical treatment. After two months, he was diagnosed with MFH through imaging studies, surgery, and pathological microscopic findings at a university hospital in Seoul. His social, medical, and family history was unremarkable. The patient had worked for about 18 years at an automobile repair shop as a spray painter. During this period, he had been exposed to various occupational agents, such as hexavalent chromium, nickel, and formaldehyde, without appropriate personal protective equipment. He painted 6 days a week and worked for about 8 hours a day. Investigation of the patient's work environment detected hexavalent chromium, chromate, nickel, and formaldehyde. CONCLUSIONS: The study revealed that the patient had been exposed to hexavalent chromium, formaldehyde, and nickel compounds through sanding and spray painting. The association between paranasal cancer and exposure to the aforementioned occupational human carcinogens has been established. We suggest, in this case, the possibility that the paint spraying acted as a causal agent for paranasal cancer.
Automobiles* ; Carcinogens ; Chromium ; Formaldehyde ; Histiocytoma, Malignant Fibrous* ; Humans ; Maxillary Sinus* ; Nickel ; Occupational Exposure ; Paint ; Paintings ; Seoul ; Silicon Dioxide

PURPOSE: Palivizumab prophylaxis has been used in the high risk groups of respiratory syncytial virus (RSV) infections, especially with the prematures, infants with chronic lung diseases or hemodynamically significant congenital heart disease. Substantial variations in timing of RSV outbreaks presents a challenge for the optimized use of palivizumab prophylaxis. This study investigates the epidemiologic characteristics of RSV associated lower respiratory tract infections (LRTI) in children, to help guide in the application of palivizumab prophylaxis in the Republic of Korea. METHODS: This was a retrospective observational study. We performed RSV culture or multiplex RT-PCR from children under 60 months of age admitted for LRTI at three hospitals in the capital area of Korea from May 2008 to April 2011. The study identified RSV infection and analyzed the RSV detection rates. RESULTS: RSV detection rate was 18.8% (1,721/9,178). The RSV season of 2008-2009 is from the second week of August to the fourth week of March and, that of 2009-2010 is from the first week of October to the third week of Apirl and that of 2010-2011 is from the third week of September to the third week of March. The RSV detection rate in preterms and low birth weight infants were significantly higher during the RSV season and non-RSV season. CONCLUSION: The RSV seasons were shown to have variations in onset, offset, and durations in each year. Physicains should determine the timing of the first and final doses of palivizumab on the basis of information about the RSV season in their own area. The real-time surveillance systems to analyze the variations of RSV seasons are necessary for the effective and economical preventions of RSV infections in high risk groups.
Antibodies, Monoclonal, Humanized ; Child ; Disease Outbreaks ; Heart Diseases ; Humans ; Infant ; Infant, Low Birth Weight ; Infant, Newborn ; Korea ; Lung Diseases ; Republic of Korea ; Respiratory Syncytial Viruses ; Respiratory System ; Respiratory Tract Infections ; Retrospective Studies ; Seasons ; Palivizumab

BACKGROUND: Doppler myocardial performance index (DMPI), defined as the sum of isovolumetric contraction time (IVCT) and isovolumetric relaxation time (IVRT) divided by ejection time (ET), is an easily measurable index which has been shown to reflect the severity of the disease. It has been known each component of DMPI, as IVCT, IVRT and ET, was affected by the change of preload. Therefore, the objective of this study was to estimate the changes of DMPI during intravascular volume reduction in patients with end-stage renal disease and to determine which components of DMPI contribute to DMPI alteration during intravacular volume reduction. METHODS: We measured blood pressure, heart rate, M-mode echocardiographic and Doppler parameters within 10 minutes before and after hemodialysis and ultrafitration with amount of average 2 L. RESULTS: We studied 40 end-stage renal disease patients (22 men and 18 women, mean age of 52 years) who had left ventricular hypertrophy 39 (97.5%) and normal left ventricular systolic function (diastolic interventricular septal thickness, 13.8+/-2 mm; diastolic left ventricular posterior wall thickness, 12.6+/-2 mm; Ejection fraction, 63.1+/-0.1%). Peak E-wave velocity was significantly decreased after hemodialysis and ultrafiltration (84.85+/-25 cm/s vs 72.89+/-23 cm/s, p<0.05), but other Doppler parameters such as peak A-wave velocity and E deceleration time were not changed. E/A ratio showed decreased tendency which was not significant statistically (p<0.097). DMPI was significantly increased after hemodialysis and ultrafiltration (0.41+/-0.14 vs 0.45+/-0.15, p<0.001). The increase of DMPI was mainly affected by prolongation of IVRT/ET which was due to prolonged IVRT, but IVCT/ET was not changed. The changes of DMPI was little with hemodialysis and ultrafiltration of about 2 L. CONCLUSION: We could prove that DMPI was preload dependent parameter of myocardial function. We suggest the change of preload should be considered as an important factor which may alter the DMPI.
Blood Pressure ; Deceleration ; Echocardiography ; Female ; Heart Rate ; Humans ; Hypertrophy, Left Ventricular ; Kidney Failure, Chronic* ; Male ; Relaxation ; Renal Dialysis* ; Ultrafiltration* ; Ventricular Function, Left*

BACKGROUND: In cancer cells, autophagy is generally induced as a pro-survival mechanism in response to treatment-associated genotoxic and metabolic stress. Thus, concurrent autophagy inhibition can be expected to have a synergistic effect with chemotherapy on cancer cell death. Monensin, a polyether antibiotic, is known as an autophagy inhibitor, which interferes with the fusion of autophagosome and lysosome. There have been a few reports of its effect in combination with anticancer drugs. We performed this study to investigate whether erlotinib, an epidermal growth factor receptor inhibitor, or rapamycin, an mammalian target of rapamycin (mTOR) inhibitor, is effective in combination therapy with monensin in non-small cell lung cancer cells. METHODS: NCI-H1299 cells were treated with rapamycin or erlotinib, with or without monensin pretreatment, and then subjected to growth inhibition assay, apoptosis analysis by flow cytometry, and cell cycle analysis on the basis of the DNA contents histogram. Finally, a Western blot analysis was done to examine the changes of proteins related to apoptosis and cell cycle control. RESULTS: Monensin synergistically increases growth inhibition and apoptosis induced by rapamycin or erlotinib. The number of cells in the sub-G1 phase increases noticeably after the combination treatment. Increase of proapoptotic proteins, including bax, cleaved caspase 3, and cleaved poly(ADP-ribose) polymerase, and decrease of anti-apoptotic proteins, bcl-2 and bcl-xL, are augmented by the combination treatment with monensin. The promoters of cell cycle progression, notch3 and skp2, decrease and p21, a cyclin-dependent kinase inhibitor, accumulates within the cell during this process. CONCLUSION: Our findings suggest that concurrent autophagy inhibition could have a role in lung cancer treatment.
Apoptosis ; Apoptosis Regulatory Proteins ; Autophagy ; Blotting, Western ; Carcinoma, Non-Small-Cell Lung ; Caspase 3 ; Cell Cycle ; Cell Cycle Checkpoints ; Cell Death ; DNA ; Epidermal Growth Factor ; Flow Cytometry ; Lung ; Lung Neoplasms ; Lysosomes ; Monensin ; Phosphotransferases ; Poly(ADP-ribose) Polymerases ; Proteins ; Quinazolines ; Receptor, Epidermal Growth Factor ; Receptor, erbB-2 ; Sirolimus ; Stress, Physiological ; TOR Serine-Threonine Kinases ; Erlotinib Hydrochloride