PURPOSE: Mitochondrial diseases are clinically and genetically heterogeneous disorders, which make their exact diagnosis and classification difficult. The purpose of this study was to identify pathogenic mitochondrial DNA (mtDNA) mutations in 2 Korean families with myoclonic epilepsy with ragged-red fibers (MERRF) and Leigh syndrome, respectively. MATERIALS AND METHODS: Whole mtDNAs were sequenced by the method of mtDNA-targeted next-generation sequencing (NGS). RESULTS: Two causative mtDNA mutations were identified from the NGS data. An m.8344A>G mutation in the tRNA-Lys gene (MT-TK ) was detected in a MERRF patient (family ID: MT132), and an m.9176T>C (p.Leu217Pro) mutation in the mitochondrial ATP6 gene (MT-ATP6) was detected in a Leigh syndrome patient (family ID: MT130). Both mutations, which have been reported several times before in affected individuals, were not found in the control samples. CONCLUSION: This study suggests that mtDNA-targeted NGS will be helpful for the molecular diagnosis of genetically heterogeneous mitochondrial diseases with complex phenotypes.
Classification ; Diagnosis ; DNA, Mitochondrial ; Humans ; Leigh Disease* ; MERRF Syndrome* ; Mitochondrial Diseases ; Phenotype

BACKGROUND: Measurement of the maximum oxygen uptake in patients with chronic obstructive pulmonary disease (COPD) has been used to determine the intensity of exercise and to estimate the patient's response to treatment during pulmonary rehabilitation. However, cardiopulmonary exercise testing is not widely available in Korea. The 6-minute walk test (6MWT) is a simple method of measuring the exercise capacity of a patient. It also provides high reliability data and it reflects the fluctuation in one's exercise capacity relatively well with using the standardized protocol. The prime objective of the present study is to develop a regression equation for estimating the peak oxygen uptake (VO2) for men with moderate to very severe COPD from the results of a 6MWT. METHODS: A total of 33 male patients with moderate to very severe COPD agreed to participate in this study. Pulmonary function testing, cardiopulmonary exercise testing and a 6MWT were performed on their first visits. The index of work (6Mwork, 6-minute walk distance [6MWD]xbody weight) was calculated for each patient. Those variables that were closely related to the peak VO2 were identified through correlation analysis. With including such variables, the equation to predict the peak VO2 was generated by the multiple linear regression method. RESULTS: The peak VO2 averaged 1,015+/-392 ml/min, and the mean 6MWD was 516+/-195 meters. The 6Mwork (r=.597) was better correlated to the peak VO2 than the 6MWD (r=.415). The other variables highly correlated with the peak VO2 were the FEV1 (r=.742), DLco (r=.734) and FVC (r=.679). The derived prediction equation was VO2 (ml/min)=(274.306xFEV1)+(36.242xDLco)+(0.007x6Mwork)-84.867. CONCLUSION: Under the circumstances when measurement of the peak VO2 is not possible, we consider the 6MWT to be a simple alternative to measuring the peak VO2. Of course, it is necessary to perform a trial on much larger scale to validate our prediction equation.
Exercise Test ; Humans ; Korea ; Linear Models ; Male ; Oxygen ; Pulmonary Disease, Chronic Obstructive ; Respiratory Function Tests

Fluorine-18 2-fluoro-2-deoxy-D-glucose (18F-FDG) positron emission tomography (PET) has been used exclusively to diagnose malignancies. However, increased FDG uptake is not always limited to malignant tissue. Many false positive findings for PET have been reported. Moreover, the use of PET/CT may allow the reassessment of previously recognized patterns of physiological bio-distribution of a tracer. In this report we demonstrate the physiological FDG uptake of normal structures in the thorax using PET/CT imaging and illustrate many benign pathological conditions with standardized uptake values greater than 2.5.
Electrons* ; Fluorodeoxyglucose F18* ; Positron-Emission Tomography and Computed Tomography ; Positron-Emission Tomography* ; Thorax*

A case of fibroepithelial polyp on vulvoperineal area is described. Her age is 20 year old and the tumor measured 9 cm in its largest diameter and was connected to the left labium majus. This case is very unusual in that almost all reported vulvar fibroepithelial polyps are small and sessile, and should distinguish from malignant cancer. We have experienced an unusually large vulvoperineal mass that was surgically excised and histologically diagnosed as benign fibroepithelial polyp and present this case with a brief review of literature.
Humans ; Polyps* ; Young Adult

A gastrocolic fistula is a fistulous communication between a segment of colon and the stomach. It is a rare complication and is caused most commonly by a carcinoma of the colon or the stomach. Among the less common causes of a gastrocolic fistula are a benign gastric ulcer, chronic ulcerative colitis, Crohn's disease, a carcinoid tumor, syphillis, an intraabdominal abscess, a lymphoma, trauma, intestinal tuberculosis, and iatrogenic factors. Recently, the incidence of gastrocolic fistulas has decreased due to earlier diagnosis and treatment of stomach and colon cancer. The classic triad of symptoms are lienteric diarrhea, feculent vomiting, and foul eructations, but all patients do not necessarily present with these symptoms. A gastrocolic fistula is usually diagnosed by using a barium enema, but occasionally can be detected by using an upper gastrointestinal series or endoscopy. Here, we report experience with a fistula between a cancerous transverse colon and the stomach and give a review of the literature.
Abscess ; Barium ; Carcinoid Tumor ; Colitis, Ulcerative ; Colon* ; Colon, Transverse ; Colonic Neoplasms* ; Crohn Disease ; Diagnosis ; Diarrhea ; Endoscopy ; Enema ; Eructation ; Fistula* ; Humans ; Incidence ; Lymphoma ; Stomach ; Stomach Ulcer ; Tuberculosis ; Vomiting

A stercoral perforation of the colon is a very rare condition, which results from stercoral ulcers due to severe, prolonged constipation, and has a very high mortality rate. Herein is presented four cases of stercoral perforation of the sigmoid colon. All the patients were female. They had long standing and severe constipation, with peritonitis, prior to admission. Plain chest or abdominal X-rays revealed the presence of abdominal free air in all cases, and so emergent operations were undertaken. Fecalomas were found in the colon or abdominal cavity, with round and spherical shaped perforated sites. Microscopically, the edges of the ulcers were compressed with the accumulation of lymphocytes. A resection of the perforated colon with a proximal colostomy was performed in one case, a primary closure of the perforated colon and a proximal colostomy in another and a Hartmann's colostomy in the remaining two cases.
Abdominal Cavity ; Colon* ; Colon, Sigmoid ; Colostomy ; Constipation ; Female ; Humans ; Lymphocytes ; Mortality ; Peritonitis ; Thorax ; Ulcer

Gastroduodenal intussusception is an extremely uncommon condition caused by the prolapse of a gastric tumor into the duodenum, with the subsequent invagination of a portion of the stomach wall. The lead point of the intussusception is usually a benign gastric tumor, with only a small number attributed to gastric carcinomas. Both gastroduodenal intussusception itself and a gastric carcinoma as the lead point are extremely rare. The authors present a case of gastroduodenal intussusception caused by a Borrmann type I gastric carcinoma. This case can be classified as a partial lateral invagination with a grade II internal mechanism.
Duodenum ; Intussusception* ; Prolapse ; Stomach

This study was performed to evaluate the effectiveness of a nutrition education program developed for nutritionally imbalanced adolescents. A summer nutrition camp was held for 23 overweight and 16 underweight subjects. Its effectiveness with regard to was evaluated at the end of the camp and 6 months later. Nutrition knowledge, nutritional attitude, food behavior, nutrient intake, exercise habit and ideal body figures desired by the subjects. The results showed significantly higher nutrition knowledge scores at the end of the camp as compared to those obtained prior to the camp program, and these scores were maintained for at least six months. Nutrition attitude scores also improved after the education program, and these improved scores also lasted for 6 months. However, the food behavior scores measured 6 months after the education program were not significantly different from those obtained prior to the camp. Also, the exorcist habit, the ideal body figures and the body figures desired by the subjects remained unchanged. When nutrient intakes of subjects were assessed before the program and 6 months later, the mean daily vitamin C intake was significantly increased after the education program. Also, the intake of iron from plant food sources increased in the overweight subjects, while less iron from animal source were consumed by the underweight subjects. Both groups tended to consume more vegetables and fruits 6 months after the education program which may have contribute to the higher vitamin C and plant-based iron intakes. These results indicate that a 4-day nutrition education camp program sustained changes in nutrition knowledge and nutrition attitude for 6 months. The increased intake of vegetables and fruits was also achieved through this education program. However, changes in dietary behavior in adolescents may require repeated education.
Adolescent* ; Animals ; Ascorbic Acid ; Education* ; Fruit ; Humans ; Iron ; Overweight* ; Plants ; Thinness* ; Vegetables

BACKGROUND: The myelodysplastic syndromes (MDS) can be categorized as a group of clonal hematopoietic disorders characterized by ineffective hematopoiesis and peripheral cytopenias. Although the natural history of MDS varies, traditional treatments are not curative and allogeneic marrow transplantation offers potentially curative treatment for MDS. METHODS: In our center, 10 patients underwent allogeneic bone marrow transplantation (BMT) between December 1989 and May 1997. The minimum follow-up of 3 months was possible in 10 patients, for whom treatment-related complications and clinical outcomes were assessed. RESULTS: The median age of the 10 patients was 33 (range 20~40) years. The median time from diagnosis to BMT was 34 (3~116) months. By morphology, 5 patients had advanced MDS (i.e., RAEB, RAEB-t, CMML) and 5 patients had less advanced MDS (RA). By Bournemouth score, 8 patients had a score 2~3 and two patients had a score 4. By IPSS, 5 patients were in intermediate-1 group, 3 patients in intermediate-2 group and 2 patients in high risk group. Patients were prepared for transplant with either a total body irradiation (TBI)+cyclophosphamide (n=7), busulfan+TBI (n=2) and busulfan+cyclophophamide (n=1). All patients received CsA+short course MTX for GVHD prophylaxis. Successful engraftment was confirmed in all patients. The overall incidence of acute GVHD was noted in 70% (7/10 patients) and grade IV acute GVHD developed in 2 patients (20%). Five patients were evaluable for the development of chronic GVHD and 2 patients (40%) developed limited chronic GVHD. The duration of median follow-up was 8.1 months. At present five patients are alive and disease-free 3 to 21 months (median survival duration : 8.2 months) post-transplantation resulting in a 2-year disease-free survival of 44%. 2-year disease free survival was 63% in less advanced MDS and 25% in advanced MDS. CONCLUSION: Allogeneic BMT should be considered when any clinical evidence of disease progression to a more advanced stage becomes apparent. International prognostic scoring system (IPSS) and Bournemouth score can also be used to gauge timing for BMT. For patients were in intermediate-1 or intermediate-2 group by IPSS, BMT can be justified if the patient is young and has an HLA matched sibling donor.
Anemia, Refractory, with Excess of Blasts ; Bone Marrow Transplantation* ; Bone Marrow* ; Diagnosis ; Disease Progression ; Disease-Free Survival ; Follow-Up Studies ; Hematopoiesis ; Humans ; Incidence ; Myelodysplastic Syndromes* ; Natural History ; Siblings ; Tissue Donors ; Whole-Body Irradiation

PURPOSE: To seek adequate sequence of MR angiography (MRA) on developmental venous anomaly in the brain. MATERIAL AND METHODS: We collected ten cases who demonstrated developmental venous anomaly on MR image. Eight patients among them, both 3D time-of-flight (TOF) with or without Gadolinium-DTPA enhancement and phase contrast(PC) were performed: TOF without enhancement in five, TO F with enhancement in six, and PC with 10 cm/sec in five, PC with 30 cm/sec in three, and PC with 5 cm/sec velocity encoding (VNEC) in two cases. RESULTS: On enhanced 3D TOF, both dilated collecting veins and medullary veins were well depicted in five of six cases, however, the signal intensity of the collecting and medullary veins are less than arteries. Dilated hyperintense collecting veins were well demonstrated on 3D PC with below the 10cm/sec VNEC in all seven cases, but the medullary veins were poorly defined. Unenhanced 3D TOF IVIRA could not reveal any dilated collecting and medullary veins in all five cases. CONCLUSION: Enhanced 3D TO F could demonstrate the collecting and medullary veins of developmental venous anomaly, however, 3D PC with below the 10 cm/sec VN EC could showthe dilated collecting and larger draining veins. We considered that combined enhanced 3D TOF MRA and PC with VENC 10cm/sec can substitute for conventional anglogram in the diagnosis of developmental venous anomaly.
Angiography* ; Arteries ; Brain ; Central Nervous System Venous Angioma* ; Diagnosis* ; Humans ; Veins