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*

Reversible splenial lesion may occur in encephalitis rarely. A 21-year-old man was admitted with viral encephalitis. High signal on the diffusion MRI and low signal on the ADC map image was showed in the splenium. As the patient improved, the lesion suggestive of cytotoxic edema was completely resolved one month later. Although the concrete pathophysiology of focal cytotoxic edema in encephalitis is unclear yet, MRI is valuable diagnostic tool to manage encephalitis in the view of prognosis.
Diffusion Magnetic Resonance Imaging* ; Diffusion* ; Edema ; Encephalitis* ; Encephalitis, Viral ; Humans ; Magnetic Resonance Imaging ; Prognosis ; Young Adult

OBJECTIVES: In development of Korean addiction treatment guidelines, the aim of this study was to investigate the experts' consensus regarding current pharmacological practice in treatment of alcohol withdrawal. METHODS: Using recommendations from foreign clinical guidelines, which were either lacking in evidence or could not be directly applied to Korea, the executive committee developed a questionnaire consisting of 17 questions. Using a nine-point scale, members of the Korean Addiction Psychiatry, who were experts (n=150) with sufficient experience in treatment of alcohol use disorder, were asked to evaluate the appropriateness of each item on the questionnaire. We classified the experts' opinion according to three categories, based on the lowest scores of 6.5 or greater as a first-line/preferred treatment, 3.5-6.5 as a second-line/reasonable treatment, and lower than 3.5 as a third-line/inappropriate treatment. The consensus was determined by chi-square test (p<0.05). Response rate was 70.4% (81/115). RESULTS: The results of the survey from the experts were as follows: 1) Symptom triggered therapy (STT) was the most appropriate strategy in treatment of alcohol withdrawal (95% CI 7.41-8.04). 2) Prophylactic benzodiazepine was recommended for management of expecting alcohol withdrawal in out-patient-department patients. 3) Among benzodiazepines, lorazepam was the most preferred. 4) For patients with severe withdrawal, lorazepam 7.4 mg/day (95% CI 6.48-8.25, maximum dose=20 mg) was recommended. 5) Risperidone, quetiapine, and haloperidol were the first-line drugs for patients with alcohol withdrawal and combined psychotic symptoms. 6) 127.5 mg (95% CI 111-145) for 2.8 months of prophylactic thiamine and 213.5 mg (95% CI 190-240) for 6.2 months of thiamine for Wernicke-Korsakoff's syndrome were recommended. CONCLUSION: We hope that these Korean addiction treatment guidelines, added by the Korean experts' consensus, will be helpful in promoting the efficacy of treatment for alcohol withdrawal.
Benzodiazepines ; Consensus ; Dibenzothiazepines ; Haloperidol ; Humans ; Korea ; Lorazepam ; Surveys and Questionnaires ; Risperidone ; Thiamine ; Quetiapine Fumarate

Mesenteric fibromatosis is a rare benign fibrous tumor that can occur from bowel mesentery of the retroperitoneum. It can infiltrate the surrounding structures and tends to recur locally even after resection but does not have metastatic capability. Mesenteric fibromatosis represents 8% of all intra-abdominal desmoid neoplasm. We experienced a case of mesenteric fibromatosis in a 50-year-old woman with a painless abdominal mass. An exploratory laparotomy was performed, and two large, small bowel mesenteric masses were found which were invading the transverse colon. The segment of the jejunum and transverse colon including the masses were resected widely and the pathologic report confirmed the diagnosis of fibromatosis. We reviewed the features of the mesenteric fibromatosis, that is, clinical, imaging, pathological, immunohistological features, and differential diagnosis and treatment of mesenteric fibromatosis.
Colon, Transverse ; Diagnosis, Differential ; Female ; Fibroma ; Fibromatosis, Aggressive ; Humans ; Jejunum ; Laparotomy ; Mesentery ; Middle Aged

Sunitinib as a multitarget tyrosine kinase inhibitor is one of the anti-tumor agents, approved by the United States Food and Drug Administration to use treat gastrointestinal stromal tumor and metastatic renal cell carcinoma. The agent is known to commonly induce adverse reactions such as fatigue, nausea, diarrhea, stomatitis, esophagitis, hypertension, skin toxicity, reduciton in cardiac output of left ventricle, and hypothyroidism. However, it has been reported to rarely induce adverse reactions such as nephrotic syndrome and irreversible reduction in renal functions, and cases of intestinal perforation or pneumatosis interstinalis as such reactions have been consistently reported. In this report, a 66-year old man showing abdominal pain had renal cell carcinoma and history of sunitinib at a dosage of 50 mg/day on a 4-weeks-on, 2-weeks-off schedule. Seven days after the third cycle he was referred to the hospital because of abdominal pain. Computed tomography showed pneumoperitoneum with linear pneumatosis intestinalis in his small bowel. The patient underwent surgical exploration that confirmed the pneumatosis intestinalis at 100 cm distal to Treitz's ligament. We report a rare case of intestinal perforation with pneumatosis intestinalis after administration of sunitinib to a patient with metastatic renal cell carcinoma.
Aged ; Antineoplastic Agents/adverse effects/*therapeutic use ; Carcinoma, Renal Cell/*drug therapy ; Drug Administration Schedule ; Humans ; Indoles/adverse effects/*therapeutic use ; Intestinal Perforation/*diagnosis/etiology/surgery ; Kidney Neoplasms/*drug therapy ; Lung/radiography ; Male ; Pneumatosis Cystoides Intestinalis/*diagnosis/etiology ; Positron-Emission Tomography ; Pyrroles/adverse effects/*therapeutic use ; Tomography, X-Ray Computed

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