Recently, we experienced two cases of tuberous sclerosis, in 4-year-4-month-old female and 17-month-old male patient. The diagnoses were established by typical clinical manifestations and brain CAT. Especially, in latter case, calcific density was successfully detected by brain CAT, while plain radiographs of the skull revealed still no evidence of calcification. A brief review of related literatures was made.
Animals ; Brain ; Cats ; Diagnosis ; Female ; Humans ; Infant ; Male ; Skull ; Tuberous Sclerosis*

Hemoptysis occurs quite frequently as a consequence of mitral stenosis, but massive, lirE threatening pulmonary hemorrhage is distinctly unusual. We report a 30 year old female who underwent cmcrgcncy rcdo double valve replacement for intractable pulmonary hemorrhage. she underwent mitral valve replacement (lonescu Shirley 27 mm) due to rheumatic valvular heart disease in 1984 and tricuspid valve annuloplasty (Carpentier's ring 30mm) two years later She was admitted for massive hcmoptysis and dyspnea on the 26th of December, 1995. Medical treatment including transarterial embolization was given but was not satisfactory. Emergency valve replacement (Mitral valve, St. Judc 29mm and tricuspid valve ; St. Jude 33mm) was performed and hemoptysis was controlled dramatically 24 hours after surgery.
Adult ; Dyspnea ; Emergencies* ; Female ; Heart Valve Diseases* ; Hemoptysis* ; Hemorrhage ; Humans ; Mitral Valve ; Mitral Valve Stenosis ; Tricuspid Valve

PURPOSE: This study was undertaken in order to investigate the behavior of gastrointestinal stromal tumors (GIST) of small intestine and to determine the factors related to their prognosis. METHODS: We retrospectively analyzed the clinical records of 28 patients who were diagnosed and underwent surgery for the GIST of the small intestine at Seoul National University Hospital from 1990 to 1999. RESULTS: The study group comprised 12 men and 16 women. The mean age was 48.4 years (20~78 years) at the time of diagnosis. The median follow-up period was 45 months (4~124 months). The tumor sites were the duodenum in 11 cases (39.3%), jejunum in 14 cases (50.0%) and ileum in 3 cases (10.7%). The most frequent symptom in cases of GIST of the small bowel was GI bleeing (50.0%). Complete resection of the tumor had been performed in 24 patients, and they demonstrated a longer disease-free survival time than the 4 patients who had been undergone incomplete resection, although the difference was not statistically significant (P>0.05). There were no metastases of the lymph nodes in any of the 28 cases. Eleven patients among the 24 who have been undergone complete tumor resection showed recurrence (45.8%). The mean recurrence time after surgery was 28.2 months (4~82 months) and the most common site of recurrence was the liver (81.8%). As for the univariate and multivariate analysis, the prognostic factors for the disease-free survival of patients with GIST were incresed mitotic counts of the tumor (>or=2/10 high power field) and the presence of tumor necrosis (P<0.01), although statistically there was no significant difference according to tumor size (>or=5 cm vs <5 cm; P>0.05) CONCLUSION: In cases of GIST of the small bowel, the most common symptom was GI bleeding. There were no metastases of the lymph nodes detected. The most common site of recurrence was the liver. The increased mitotic counts of the tumor and the presence of tumor necrosis were risk factors for recurrence.
Diagnosis ; Disease-Free Survival ; Duodenum ; Female ; Follow-Up Studies ; Gastrointestinal Stromal Tumors* ; Hemorrhage ; Humans ; Ileum ; Intestine, Small* ; Jejunum ; Liver ; Lymph Nodes ; Male ; Multivariate Analysis ; Necrosis ; Neoplasm Metastasis ; Prognosis ; Recurrence ; Retrospective Studies ; Risk Factors ; Seoul

Invasive aspergillosis (IA) of the paranasal sinuses is a rare infectious complication associated with allogeneic hematopoietic stem cell transplantation (HSCT). However, immunocompromised patients are particularly at risk of fulminant IA. The high risk of an invasive fungal infection (IFI) following allogeneic HSCT is due to several factors, including neutropenia before engraftment, disruption of mucosal barriers by various preparative regimens and the use of broad-spectrum antimicrobial agents, as well as the immunosuppressive effects of prophylaxis and treatment of GVHD. As the therapy for an IFI following allogeneic HSCT is often unsuccessful, the mortality rate is increased by 95%. Therefore, early diagnosis is important to overcome the high mortality of this destructive disease. In previous studies, high risks for the early onset of IA were demonstrated in patients with severe aplastic anemia (SAA), independent of the day of engraftment. Here, we report a case of invasive aspergillosis of the maxillary sinuses and orbit in a 50 years old man with SAA, who underwent an allogeneic HSCT from a HLA-matched sibling conditioned with Cytoxan/Fludara/ATG.
Anemia, Aplastic* ; Anti-Infective Agents ; Aspergillosis* ; Early Diagnosis ; Hematopoietic Stem Cell Transplantation ; Humans ; Immunocompromised Host ; Maxillary Sinus ; Middle Aged ; Mortality ; Neutropenia ; Orbit* ; Paranasal Sinuses ; Siblings ; Stem Cell Transplantation* ; Stem Cells*

PURPOSE: The diagnostic criteria of gastric intraepithelial neoplasia (IEN) are controversial across the world. We investigated how many discrepancies occur in the pathologic diagnosis of IEN and early gastric carcinoma in endoscopic submucosal dissection (ESD) specimens, and evaluated the reasons of the discordance. MATERIALS AND METHODS: We retrospectively reviewed 1,202 ESD specimens that were originally diagnosed as gastric IEN and early carcinoma at 12 institutions. RESULTS: The final consensus diagnosis of carcinoma were 756 cases, which were originally 692 carcinomas (91.5%), 43 high-grade dysplasias (5.7%), 20 low-grade dysplasias (2.6%), and 1 others (0.1%), respectively. High- and low-grade dysplasia were finally made in 63 and 342 cases, respectively. The diagnostic concordance with the consensus diagnosis was the highest for carcinoma (91.5%), followed by low-grade dysplasia (86.3%), others (63.4%) and high-grade dysplasia (50.8%). The general kappa value was 0.83, indicating excellent concordance. The kappa values of individual institutions ranged from 0.74 to 1 and correlated with the proportion of carcinoma cases. The cases revised to a final diagnosis of carcinoma exhibited both architectural abnormalities and cytologic atypia. The main differential points between low- and high-grade dysplasias were the glandular distribution and glandular shape. Additional features such as the glandular axis, surface maturation, nuclear stratification and nuclear polarity were also important. CONCLUSION: The overall concordance of the diagnosis of gastric IEN and early carcinoma in ESD specimens was excellent. It correlated with the proportion of carcinoma cases, demonstrating that the diagnostic criteria for carcinoma are more reproducible than those for dysplasia.
Consensus ; Diagnosis ; Retrospective Studies ; Stomach Neoplasms

BACKGROUND: The aim of this study was to investigate the prevalence, clinical and laboratory findings of hereditary hemolytic anemia (HHA) in Korea from 1997 to 2006 and to develop the appropriate diagnostic approach for HHA. METHODS: By the use of questionnaires, information on the clinical and laboratory findings ofHHA diagnosed from 1997 to 2006 in Korea was collected and analyzed retrospectively. A total of 431 cases were enrolled in this study from 46 departments of 35 hospitals. RESULTS: The overall frequency of HHA did not change through the 10-year period for pediatrics but did show an increasing tendency for internal medicine. The overall male to female sex ratio did not show sex predominance (1.17:1), but a significant male predominance with a ratio of 1.49:1 was seen for pediatrics while a significant female predominance with a ratio of 1:1.97 was seen forinternal medicine. Of the total cases, 74.2% (282/431) were diagnosed before the age of 15 years. The etiologies of HHA were classified as red cell membrane defects, hemoglobinopathies, red cell enzyme deficiencies and unknown causes. There were 382 cases (88.6%) of red cell membrane defects with 376 cases (87.2%) of hereditary spherocytosis and 6 cases (1.4%) of hereditary elliptocytosis, 20 cases (4.6%) of hemoglobinopathies with 18 cases (4.2%) of beta-thalassemia, a case (0.2%) of alpha-thalassemia and a case (0.2%) of Hemoglobin Madrid, 7 cases (1.6%) of red cell enzyme deficiencies with 5 cases (1.2%) of glucose-6- phosphate dehydrogenase (G-6-PD) deficiency, a case (0.2%) of pyruvate kinase (PK) deficiency and a case (0.2%) of enolase deficiency, and 22 cases (5.1%) of unknown causes. The most common chief complaint in pediatric patients was pallor and that in adult patients was jaundice. In the red cell membrane defect group of patients, the level of hemoglobin was significantly higher than in adult patients. The mean corpuscular volume, mean corpuscular hemoglobin, corrected reticulocyte count, total and indirect bilirubin level and lactate dehydrogenase levels in the hemoglobinopathy group of patients were significantly lower than the values in the red cell membrane defect group of patients. The mean concentration of G-6-PD was 0.8+/-0.7U/1012RBC in the G-6-PD deficient patients, PK was 1.7U/1010 RBC in the PK deficient patient, and the level of enolase was 0.04U/g of Hb in the enolase deficient patient. CONCLUSION: The most prevalent cause of HHA in Korea during 1997 to 2006 was hereditary spherocytosis, but HHA by other causes such as hemoglobinopathy and red cell enzyme deficiency gradually increased with the development of molecular diagnostic methods and increasing general interest. However, the etiologies of HHA need to be pursued further in 5.1% of the patients. An systematic standard diagnostic approach is needed in a nationwide prospective study for correct diagnoses and appropriate management of HHA.
Adult ; alpha-Thalassemia ; Anemia, Hemolytic, Congenital* ; beta-Thalassemia ; Bilirubin ; Cell Membrane ; Diagnosis ; Elliptocytosis, Hereditary ; Erythrocyte Indices ; Female ; Hemoglobinopathies ; Humans ; Internal Medicine ; Jaundice ; Korea* ; L-Lactate Dehydrogenase ; Male ; Oxidoreductases ; Pallor ; Pathology, Molecular ; Pediatrics ; Phosphopyruvate Hydratase ; Prevalence ; Pyruvate Kinase ; Reticulocyte Count ; Retrospective Studies* ; Sex Ratio ; Surveys and Questionnaires

OBJECTIVE: The purpose of this study was to investigate the efficacy and safety of risperidone in the treatment of Korean schizophrenic patients. METHOD: This multicenter open study included 377 schizophrenic patients drawn from 39 university hospitals. After a wash-out period of 1 week, the schizophrenic patients were treated with risperidone for 8 weeks and evaluated at 5 points: at baseline, and 1,2,4 and 8 weeks of treatment. The dose was increased from 2mg/day(1mg twice daily) to 6mg/day(3mg twice daily) during the first week and adjusted to a maximum of 16mg/day over the next 7 weeks according to the patient's clinical response. Medication to control extrapyramidal symptoms was permitted. The psychiatric and neurological status of the patients was assessed by PANSS, CGI, and ESRS scales. RESULTS: 343(91%) of 377 patients completed the 8-week trial period. Clinical improvement, as defined by a 20% or more reduction in total PANSS score at end point, was shown by 81.3% of patients. The predictors of response to risperidone were associated older age, shorter duration of illness, fewer previous hospitalization. Risperidone had rapid onset of action: a significant decrease of the total PANSS and three PANSS factor(positive, negative, general), and CGI was already noticed at the end of first week. For the ESRS, parkinsonism rating scores were significantly increased until week 4 comparing with baseline. Dystonia rating scores were significantly increased until week 1, and dyskinesia rating scores were not significantly changed during the study. Laboratory parameters including vital sign, EKG, hematological, and biochemical values showed no significant changes during the trial. CONCLUSIONS: This study suggests that risperidone is generally safe and effective against both the positive and negative symptoms in our group of patients.
Dyskinesias ; Dystonia ; Electrocardiography ; Hospitalization ; Hospitals, University ; Humans ; Parkinsonian Disorders ; Risperidone* ; Schizophrenia* ; Vital Signs ; Weights and Measures