PURPOSE:The lesion of Congenital Lipoid Adrenal Hyperplasia has been suggested to be in the 1st step of steroidogenesis of conversion of cholesterol to pregnenolone by P450scc. In 1995, however, the molecular defect of this disease has been located in the transport of cholesterol into mitochondria due to defective regulatory protein called Steroidogenic Acute Regulatory Protein(StAR), while the enzyme P450scc itself is normal. This genetic study using automatic sequence analyzer aimed at elucidating the molecular defect in the StAR gene of the two patients. METHODS:This study was performed on the two patients of Congenital Lipoid Adrenal Hyperplasia. Both children were phenotypically females. However, one turned out to have a karyotype of 46, XY, the other 46, XX. Genomic DNAs were extracted from their peripheral blood. We amplified the last exon, hot spot, of the StAR gene using 1 set of primer, S4, 5'-CCT GGC AGC CTG TTT GTG ATA G-3' AS4, 5'-CCT CAT GTC ATA GCT AAT CAG TG-3'. Subsequently, one PCR product have been directly sequenced by dideoxy termination method, and also the other products(patient's and her father's) have been sequenced by automatic sequence analyzer. RESULTS:The mutation was identified in the last exon of the StAR gene, substituting T for A at codon 258, replacing glutamine by stop codon in the two unrelated Korean patients with congenital lipoid adrenal hyperplasia. One patient were found to be homozygote, but the other to be heterozygote for the mutation. CONCLUSIONS:These results indicate that Korean children with congenital lipoid adrenal hyperplasia may be genetically identical as in Japanese. But, we discovered that the hot spot, codon 258, are not always homozygote. We want to emphasize the different point, and to say that we did experiece the automatic sequence analyzer successfully.
Animals ; Asian Continental Ancestry Group ; Cats ; Child ; Cholesterol ; Codon ; Codon, Terminator ; DNA ; Exons ; Female ; Glutamine ; Heterozygote ; Homozygote ; Humans ; Hyperplasia ; Karyotype ; Mitochondria ; Molecular Biology* ; Polymerase Chain Reaction ; Pregnenolone

Reactive oxygen species (ROS) has been implicated as an inducer of NF-kappaB activity in numbers of cell types where exposure of cells to ROS such as H2O2 leads to NF-kappaB activation. In contrast, exposure to oxidative stress in certain cell types induced reduction of tumor necrosis factor (TNF)-induced NF-kappaB activation. And various thiol-modifying agents including gold compounds and cyclopentenone prostaglandins inhibit NF-kappaB activation by blocking IkappaB kinase (IKK). To understand such conflicting effect of oxidative stress on NF-kappaB activation, HeLa cells were incubated with H2O2 or diamide and TNF-induced expression of NF-kappaB reporter gene was measured. NF-kappaB activation was significantly blocked by these oxidizing agents, and the inhibition was accompanied with reduced nuclear NF-kappaB and inappropriate cytosolic IkappaB degradation. H2O2 and diamide also inhibited IKK activation in HeLa and RAW 264.7 cells stimulated with TNF and lipopolysaccharide, respectively, and directly blocked IKK activity in vitro. In cells treated with H2O2 alone, nuclear NF-kappaB was induced after 2 h without detectible degradation of cytosolic IkBa or activation of IKK. Our results suggest that ROS has a dual effect on NF-kappaB activation in the same HeLa cells: it inhibits acute IKK-mediated NF-kappaB activation induced by inflammatory signals, while longer-term exposure to ROS induces NF-kappaB activity through an IKK-independent pathway.
Cell Nucleus/drug effects/metabolism ; Cytosol/drug effects/metabolism ; Diamide/pharmacology ; Hela Cells/drug effects/metabolism ; Human ; Hydrogen Peroxide/pharmacology ; I-kappa B/drug effects/metabolism ; NF-kappa B/drug effects/genetics/*metabolism ; Oxidants/pharmacology ; *Oxidative Stress ; Protein-Serine-Threonine Kinases/metabolism ; Signal Transduction/drug effects ; Time Factors ; Transcription, Genetic ; Tumor Necrosis Factor/pharmacology

Xanthogranulomatous cholecystitis (XGC) is a rare type of chronic inflammation of the gallbladder characterized by focal or diffuse destructive inflammatory responses. Although it is a benign condition, its destructive course may lead to more aggressive outcomes of the gallbladder, such as local infiltration, fistula, stricture, and perforation as compared with other gallbladder inflammations. There are reports about XGC accompanied by cholecystoenteric fistula. However, XGC accompanied by more than one cholecystoenteric fistula is rare. We report a case of a 54-year-old man with gastric outlet obstruction arising from XGC, accompanied by cholecystoduodenal fisula and cholecystocolonic fistula, but without impacted gallstones.
Cholecystitis* ; Constriction, Pathologic ; Fistula* ; Gallbladder ; Gallstones ; Gastric Outlet Obstruction* ; Humans ; Inflammation ; Intestinal Fistula ; Middle Aged

PURPOSE: This aim of this study was to evaluate changes in gastric volume and organ position as a result of delayed gastric emptying after a subtotal gastrectomy performed as part of the treatment of stomach cancer. MATERIALS AND METHODS: The medical records of 32 patients who underwent concurrent chemoradiotherapy after a subtotal gastrectomy from March 2005 to December 2008 were reviewed. Of these, 5 patients that had more than 50 cc of residual gastric food detected at computed tomography (CT) simulation, were retrospectively enrolled in this study. Gastric volume and organ location was measured from CT images obtained before radiotherapy, twice weekly. In addition, authors evaluated the change of radiation dose distribution to planning the target volume and normal organ in a constant radiation therapy plan regardless of gastric volume variation. RESULTS: A variation in the gastric volume was observed during the radiotherapy period (64.2~340.8 cc; mean, 188.2 cc). According to the change in gastric volume, the location of the left kidney was shifted up to 0.7 - 2.2 cm (mean, 1.2 cm) in the z-axis. Under-dose to planning target volume (V43, 79.5+/-10.4%) and over-dose to left kidney (V20, 34.1+/-12.1%; Mean dose, 23.5+/-8.3 Gy) was expected, given that gastric volume change due to delayed gastric emptying wasn't taken into account. CONCLUSION: This study has shown that a great change in gastric volume and left kidney location may occur during the radiation therapy period following a subtotal gastrectomy, as a result of delayed gastric emptying. Detection of patients who experienced delayed gastric emptying and the application of gastric volume variation to radiation therapy planning will be very important.
Chemoradiotherapy ; Gastrectomy ; Gastric Emptying ; Humans ; Kidney ; Medical Records ; Retrospective Studies ; Stomach Neoplasms

PURPOSE: The trinucleotide repeat expansion in the 3' untanslated resion of the gene is known to be the cause of myotonic dystrophy which is one of most common neurodegenerative disorder manifested by myotonia, cataract, mental retardation and even respiratory distress in neonates. The hereditary pattern of myotonic dystrophy shows more severe symptoms and shows earlier onset with successive generations and congenital cases, the most severe form of myotonic dystrophy,. Occurs by maternal transmission. This genetic transmission mode does not follow Mendelian genetic trait. To find the molecular genetic abnormalities of Korean myotonic dystrophy patients, we investigated the general distribution of myotonic dystrophy alleles and compared the results with referred patients. METHODS: During an 8 month study, from June 1995 to February 1996, 5 patients were referred with presumed diagnosis of myotonicdystrophy. Among these patients, four cases were confirmed to have the disease by clinical and electrophysiological findings. We included family members of the studied probands and 50 normal blood donor DNAs were included as controls. The DNAs of the enrolled cases were evaluated by Southern blot. Subsequently, copy numbers of the repeats were determined using PCR amplification. RESULTS: (1) Two peaks were found in the distribution of trinucleotide repeats in the normal Korean population. One peak had 5 copies and the other had 11 to 13 copies. The highest number of copies was 27. (2) Of the referred cases, 4 pedigrees showed typical expanded repeats. (3) The minimum expanded copy number was 55 and we were able to detect the expanded band only by PCR in 2 cases. In other cases, expaded bands were visible by Southern blotting. (4) There were trend of earlier onset of the disease, progressive worsening symptoms and larger expanded bands with successive generations. CONCLUSION: We established the methodology for myotonic dystrophy DNA diagnosis using Southern blot and PCR amplification based on the normal Korean allele distribution. These methods might be useful in genetic counselling and detection of minimally affected myotonic dystrophy patients.
Alleles ; Blood Donors ; Blotting, Southern ; Cataract ; Diagnosis ; DNA ; Family Characteristics ; Humans ; Infant, Newborn ; Intellectual Disability ; Molecular Biology ; Myotonia ; Myotonic Dystrophy* ; Neurodegenerative Diseases ; Polymerase Chain Reaction ; Trinucleotide Repeat Expansion* ; Trinucleotide Repeats*

BACKGROUND: Coal workers' pneumoconiosis(CWP) is a fibrotic lung disease resulting from the chronic inhalation of coal dust. Various cytokines and growth factors secreted from macrophages and monocytes play a key r ole in the pathogenesis of penumoconiosis. The platelet-derived growth factor (PDGF)-BB and the insulin-like growth factor(IGF)-1 secreted from the macrophages and monocytes are believed to stimulate the accumulation of mesenchymal cells and fibrosis of the lower respiratory tract that is observed in fibrotic lung disease. The serum concentration of PDGF-BB and IGF-1 in 30 CWP patients and 10 healthy controls were measured in order to determine if PDGF-BB and IGF-1 can be used as sensitive biomarkers in CWP. METHODS: Serum was collected from 30 patients with CWP (13 with simple CWP and 17 with complicated CWP) and 10 healthy controls. The serum concentrations of PDGF-BB and IGF-1 were measured using ELISA (RandD system, Minneapolis, MN). RESULTS: The serum PDGF-BB concentration in patients with complicated CWP (10083.76+/-639.07 pg/ml) was significantly higher than in the patients with simple CWP(8493.88+/-848.51 pg/ml) and the healthy controls (3726.17+/-292.20pg/ml)(p<0.05). Compared to the healthy controls (413.40+/-1.94ng/ml), there was no significant difference in the serum IGF-1 concentration in patients with simple (366.77+/-183.67ng/ml) and complicated CWP (403.18+/-15.39ng/ml)(p>0.05). CONCLUSIONS: These results show the important role of the PDGF-BB mediated pathways in the pathogenesis of CWP. These data suggests that the PDGF-BB serum concentration is a useful biomarkers of the fibrotic extent in CWP patients.
Biomarkers ; Coal* ; Cytokines ; Dust ; Enzyme-Linked Immunosorbent Assay ; Fibrosis ; Humans ; Inhalation ; Insulin-Like Growth Factor I* ; Intercellular Signaling Peptides and Proteins ; Lung Diseases ; Macrophages ; Monocytes ; Platelet-Derived Growth Factor ; Pneumoconiosis* ; Pulmonary Fibrosis ; Respiratory System

Toxic shock syndrome is an acute, multi-systemic, toxin-mediated illness caused by toxin-producing strains of Staphylococcus aureus and Streptococcus species. Streptococcal toxic shock syndrome is usually caused by Streptococcus pyogenes but Group G streptococcal toxic shock syndrome is rare. Herein, we report a case of group G streptococcal toxic shock syndrome that was successfully treated with toxin reducing antibiotics and intravenous immunoglobulin therapies.
Anti-Bacterial Agents ; Immunization, Passive ; Shock, Septic ; Staphylococcus aureus ; Streptococcus ; Streptococcus pyogenes

Toxoplasmosis is a rare but fatal complication in hematopoietic stem cell transplant recipients, usually associated with allogeneic hematopoietic stem cell transplantation (HSCT). We report a case of cerebral toxoplasmosis in a patient with multiple myeloma, following tandem autologous stem cell transplantation. A 55-year-old Korean male presented with weakness in both legs that had progressed to both arms. A magnetic resonance imaging scan of the brain revealed multiple, variable-sized ring-enhancing lesions with surrounding edema in the cerebral hemispheres and brain stem. Stereotactic biopsy revealed bradyzoites of Toxoplasma gondii in the brain tissue. The patient received trimethoprim-sulfamethoxazole, followed by pyrimethamine and sulfadiazine, accompanying treatment for progressive multiple myeloma. Cerebral toxoplasmosis should be considered as one of the differential diagnoses in patients with neurologic signs following autologous HSCT.
Arm ; Biopsy ; Brain ; Brain Stem ; Cerebrum ; Diagnosis, Differential ; Edema ; Hematopoietic Stem Cell Transplantation ; Hematopoietic Stem Cells ; Humans ; Leg ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Multiple Myeloma ; Neurologic Manifestations ; Pyrimethamine ; Stem Cell Transplantation ; Stem Cells ; Sulfadiazine ; Toxoplasma ; Toxoplasmosis ; Toxoplasmosis, Cerebral ; Trimethoprim, Sulfamethoxazole Drug Combination

Objective: To investigate the long-term clinical outcomes of pallidal deep brain stimulation (GPi-DBS) in patients with pantothenate kinase-associated neurodegeneration (PKAN). Methods: We reviewed the records of patients with genetically confirmed PKAN who received bilateral GPi-DBS for refractory dystonia and were clinically followed up for at least 2 years postoperatively at two centers in Korea. Pre- and postoperative Burke– Fahn–Marsden Dystonia Rating Scale motor subscale (BFMDRS-M) scores, disability subscale (BFMDRS-D) scores, and qualitative clinical information were prospectively collected. Descriptive analysis was performed for BFMDRS-M scores, BFMDRSD scores, and the orofacial, axial, and limb subscores of the BFMDRS-M at 6–12, 24–36, and 60–72 months postoperatively. Results: Five classic-type, four atypical-type, and one unknown-type PKAN cases were identified. The mean preoperative BFMDRS-M score was 92.1 for the classic type and 38.5 for the atypical or unknown type, with a mean BFMDRS follow-up of 50.7 months and a clinical follow-up of 69.0 months. The mean improvements in BFMDRS-M score were 11.3%, 41.3%, and 30.5% at 6–12, 24–36, and 60–72 months, respectively. In four patients with full regular evaluations until 60–72 months, improvements in the orofacial, axial, and limb subscores persisted, but the disability scores worsened from 24–36 months post-operation compared to the baseline, mainly owing to the aggravation of eating and feeding disabilities. Conclusion The benefits of GPi-DBS on dystonia may persist for more than 5 years in PKAN. The effects on patients’ subjective disability may have a shorter duration despite improvements in dystonia owing to the complex manifestations of PKAN.

PURPOSE: The aim of this study was to assess the involvement of several organs patients with Marfan syndrome in Korea. Also the clinical features in childhood patients with Marfan syndrome were assessed. METHODS: Thirty-eight cases of Marfan syndrome were enrolled in this study. Clinical evaluations of the musculoskeletal, cardiovascular and occular system were performed in all cases. RESULTS: The musculoskeletal system was involved in 32 cases (84.2%) and occular system in 24 cases (63.1%). Cardiovascular abnormalities were found in 19 cases (50.0%) at initial evaluation. Family history was involved in 21 cases (55.2%). Ectopia lentis was found in 17 cases (70.8%). Severe myopia and iris abnormalities were also present in 14 cases (58.2%). The ascending aorta was dilated in 13 cases (34.2%). Emergency operation was performed in 3 cases (7.9%) because of a dissecting aorta. Mitral regurgitation and prolapse were found in 29 cases (76.4%) and other valve insufficiency was accompainied in 5 cases (13.1%). Of the 38 cases, 29 patients (79.3%) were less than 15 years of age and their major manifestations were occular problems in 23 cases (79.3%), and family history in 17 cases (58.6%). In one infant, severe heart failure was the predominant clinical feature. CONCLUSION: The clinical features of Korean patients with Marfan syndrome were summarized in this report. Heart failure was the main manifestaton in infantile Marfan syndrome. Early treatment with beta-blocker and valvular replacement can prevent fatality, i.e. aortic dissection, in this disease, concern and management should be advocated in the early detection of Marfan syndrome.
Aorta ; Cardiovascular Abnormalities ; Ectopia Lentis ; Emergencies ; Heart Failure ; Humans ; Infant ; Iris ; Korea ; Marfan Syndrome* ; Mitral Valve Insufficiency ; Musculoskeletal System ; Myopia ; Prolapse