PURPOSE: MEN1 gene mutation causes multiple endocrine neoplasia type 1. It also suggests that somatic MEN1 gene mutation plays a role in sporadic endocrine tumor. In this study, we examined whether somatic mutations of MEN1 gene are responsible for sporadic parathyroid tumors and correlate with clinical manifestations of parathyroid tumors. METHODS: Somatic mutation of MEN1 gene in the formalin-fixed, paraffin-embedded parathyroid tumor tissue from 8 adenomas, 2 carcinomas and 1 hyperplasia were analyzed by direct sequencing. Clinicopathological parameters were reviewed from medical records and compared with the mutational data. RESULTS: Eight of eleven (73%) sporadic parathyroid tumors had somatic MEN1 mutations of 14 different types. In the 14 types, 13 were a point mutation which is composed of 8 missense mutations, 2 nonsense mutations and 3 silent mutations. One of 14 types is a frameshift deletion of 27 base pairs in exon 2. Somatic mutation was frequent in the exon 2 and exon 10. Four types of polymorphism were found. There was no correlation between the presence of mutations and clinicopathological phenotype of parathyroid tumors. CONCLUSION: This result suggests that somatic mutation of MEN1 gene plays a definite role in sporadic parathyroid tumor formation.
Adenoma ; Base Pairing ; Codon, Nonsense ; Exons ; Hyperplasia ; Medical Records ; Multiple Endocrine Neoplasia Type 1 ; Mutation, Missense ; Phenotype ; Point Mutation

No abstract available.
Animals ; Antibiotics, Antifungal/*therapeutic use ; Humans ; Immunosuppression/*methods ; Protein Structure, Tertiary ; T-Lymphocytes/*immunology ; *Transduction, Genetic

A 47-year-old woman with stage IV chronic kidney disease developed a fistula between common carotid artery (CCA) and internal jugular vein (IJV) during central catheterization of the right IJV. The patient was treated with a self-expandable graft stent, which achieved successful closure of the carotid-jugular fistula. As demonstrated in our case, self-expandable graft stents could be a feasible treatment option for CCA-IJV fistulas without additional interventional procedures such as balloon angioplasty.
Angioplasty, Balloon ; Carotid Artery, Common* ; Catheterization, Central Venous ; Female ; Fistula* ; Humans ; Jugular Veins* ; Middle Aged ; Renal Insufficiency, Chronic ; Stents* ; Transplants*

The Landsteiner–Wiener (LW) antigen is a type of red blood cell antigen. Anti-LW appears in various situations, including alloantibodies, autoantibodies, and even transiently occurring antibodies. Anti-LW has similar characteristics to anti-D, so it can interfere with interpreting pre-transfusion tests and finding compatible blood. This paper introduces three cases in whom anti-LW was detected through antibody identification tests. All three cases were examined using the column agglutination technique with ID-DiaPanel (Bio-Rad, Hercules, CA, USA) on a LISS/Coombs card, ID-DiaPanel p (Bio-Rad) on a NaCl/Enzyme card, and ID-DiaPanel (Bio-Rad) on a LISS/Coombs card using red blood cells treated with dithiothreitol. The auto-control test, direct antiglobulin test, and umbilical cord blood test were also performed. In all three cases, the reaction with D-positive panel cells was stronger than that with the D-negative panel cells, and two of them showed a pan-agglutinated reaction in ID-DiaPanel p (Bio-Rad) with NaCl/Enzyme card. They were reported as anti-LW, and as in these cases, anti-LW can occur under a range of conditions and interfere with proper transfusion. Therefore, it is important to identify anti-LW accurately, and if anti-LW is present, the transfusion of D-negative ABO matched blood should be recommended because of the low expression of the LW-antigen. On the other hand, D-positive blood is not a contraindication when an urgent transfusion is needed.

Propionic acidemia is an autosomal-recessive inborn error of branched-chain amino acid metabolism. It is caused by deficient activity of propionyl-coenzyme A carboxylase and is characterized by a spectrum of clinical and biochemical findings. It usually manifests in the neonatal period or early infancy. Since Childs et al first described the propionic acidemia of infants in 1961, it has rarely been reported. There have been no previous report of this organic acidemia in Korea. We present a case of propionic acidemia in a 4-day old male, who had poor feeding, dehydration, and hyperammonemia and died at 12 days of age. Diagnosis was established by gas chromatography and mass spectrometry, and this case is the first reported propionic acidemia in literature in Korea. A review of the related literature was included.
Child ; Chromatography, Gas ; Dehydration ; Diagnosis ; Diethylpropion* ; Humans ; Hyperammonemia ; Infant ; Korea ; Male ; Mass Spectrometry ; Metabolism ; Methylmalonyl-CoA Decarboxylase ; Propionic Acidemia*

BACKGROUND: Cytomegalovirus(CMV) disease is an important opportunistic infection and contributes to significant morbidity and mortality in immunocompromised hosts. To determine predisposing conditions to CMV disease and its prognosis, the authors reviewed the clinical courses of patients with CMV disease. METHODS: We reviewed medical records of 23 patients with CMV disease diagnosed at Seoul National University Hospital from 1987 to 1997. RESULTS: CMV pneumonia was diagnosed in 8 patients. Underlying conditions of the patients were allogeneic bone marrow transplant(BMT) in 4 patients, lupus nephritis in 1, dermatomyositis in 1, and renal transplantation recipient in 1. The cumulative dose of corticosteroid given to the BMT recipients before the development of CMV pneumonia ranged between 1,000 and 4,700 mg, whereas that to the non-BMT patients ranged between 2,100 and 6,000 mg. Of the 8 patients with CMV pneumonia, five patients(75%) died. Of the 15 CMV gastroenteritis, two had CMV gastric ulcers. The gastric ulcers showed clinical and endoscopic improvement with systemic ganciclovir therapy. Among 13 patients with CMV enterocolitis, nine had preceding GI diseases, and nine had received systemic corticosteroids. Five patients died. The mortality was lower in patients with underlying bowel diseases than in those without ones(22% vs. 75%, respectively). CONCLUSION: The mortality of CMV disease was 62.5%, 0%, and 38% in patients with CMV pneumonia, gastric ulcer, and enterocolitis, respectively. GVHD, systemic corticosteroid and/or immunosuppressive therapy were major risk factors of CMV diseases.
Adrenal Cortex Hormones ; Bone Marrow ; Cytomegalovirus* ; Dermatomyositis ; Enterocolitis ; Ganciclovir ; Gastroenteritis ; Humans ; Immunocompromised Host ; Kidney Transplantation ; Lupus Nephritis ; Medical Records ; Mortality ; Opportunistic Infections ; Pneumonia ; Prognosis ; Risk Factors ; Seoul ; Stomach Ulcer

Inflammatory pseudotumor of the lung is considered to be a rare, benign, neoplastic lesion, consisting mainly of spindle mesenchymal cells, sometimes in such a way that its histological appearance mimics that of a spindle cell sarcoma, fibrous histiocytoma or fibrosarcoma. A case of inflammatory pseudotumor of the lung occurring in a 13-year-old boy is reported with pathologic findings, including its ultrastructure. The patient had had no symptoms and accidentally discovered his condition after a chest X-ray examination at a regular school physical check up. The mass was located in the suprahilar area of the left lung. Exploratory thoracotomy revealed a large mass that was removed, together with the left upper lobe of the lung. Microscopically, the mass was composed of numerous interstitial inflammatory cells, mainly lymphoplasma cells. Ultrastructurally, the spindle-shaped mesenchymal cells were arranged haphazadly and the normal pulmonary structure was nearly totally destroyed. Emphasis is given to complete resection of the tumor for both diagnostic and therapeutic purposes.
Adolescent ; Child ; Fibrosarcoma ; Granuloma, Plasma Cell ; Histiocytoma, Benign Fibrous ; Humans ; Lung ; Male ; Plasma Cell Granuloma, Pulmonary* ; Sarcoma ; Thoracotomy ; Thorax

BACKGROUND: In recent years gonorrhea has been panendemic and remains one of the most common STDs in the world, especially in developing countries. OBJECTIVE & METHOD: For the detection of a more effective teripeutic regimen and assessing the prevalence of PPNG, will have been trying to study the paieits who have visited the VD Clinic of Choong-Ku Public Health Center in Seoul since 1980 by means of the chromogenic cephalosporin method. RESULTS: In 1993, 187 strains of N. gonorrhoeae were isolated, ar, ong which 139(74.3%) were PPNG. CONCLUSION: Our results suggests that the prevalence of PPNG in Seoul is still increasing.
Developing Countries ; Gonorrhea ; Prevalence* ; Public Health ; Seoul* ; Sexually Transmitted Diseases

PURPOSE: This study was performed to investigate the present condition of drug abuse and its association with depression, self-rated health and health behaviors by job status in Korean adults. METHODS: Data were derived from the study on four addiction problem and suicide in 2014. Multiple logistic regression was used to analyze patterns of drug abuse according to depression, self-rated health and health behaviors. RESULTS: The prevalence of drug abuse during the past year was 17.1% of the 4,018 subjects. About 3.3 times risk for drug abuse was found among individuals who had high depression scores. The risk of drug abuse was higher among those who were smoking (OR:1.46, 95% CI:1.17~1.83), drinking more frequently (OR:1.30, 95% CI:1.07~1.58), sleeping insufficiently (OR:1.31, 95% CI:1.03~1.67), eating irregularly (OR:1.45, 95% CI:1.19~1.76). Drug abuse problem was detected more seriously among employed than unemployed adults. CONCLUSION: Health-related behaviors, such as smoking, drinking, sleeping, eating should be considered simultaneously when designing strategies to deal with drug abuse problem, and it is important to understand the interaction between drug abuse and mental health. Furthermore, workplace based intervention can be effective in solving drug abuse problem.
Adult ; Depression* ; Drinking ; Eating ; Health Behavior* ; Humans ; Logistic Models ; Mental Health ; Prevalence ; Smoke ; Smoking ; Substance-Related Disorders* ; Suicide

This study was done to characterize the natural course of C-peptide levels in patients with type 1 diabetes and identify distinguishing characters among patients with lower rates of C-peptide decline. A sample of 95 children with type 1 diabetes was analyzed to retrospectively track serum levels of C-peptide, HbA1c, weight, BMI, and diabetic complications for the 15 yr after diagnosis. The clinical characteristics were compared between the patients with low and high C-peptide levels, respectively. The average C-peptide level among all patients was significantly reduced five years after diagnosis (P < 0.001). The incidence of diabetic ketoacidosis was significantly lower among the patients with high levels of C-peptide (P = 0.038). The body weight and BMI standard deviation scores (SDS) 15 yr after diagnosis were significantly higher among the patients with low C-peptide levels (weight SDS, P = 0.012; BMI SDS, P = 0.044). In conclusion, C-peptide level was significantly decreased after 5 yr from diagnosis. Type 1 diabetes patients whose beta-cell functions were preserved might have low incidence of diabetic ketoacidosis. The declines of C-peptide level after diagnosis in type 1 diabetes may be associated with changes of body weight and BMI.
Adolescent ; Body Mass Index ; Body Weight ; C-Peptide/*blood ; Child ; Child, Preschool ; Diabetes Complications ; Diabetes Mellitus, Type 1/blood/*diagnosis ; Diabetic Ketoacidosis/epidemiology ; Diabetic Retinopathy/epidemiology ; Female ; Follow-Up Studies ; Hemoglobin A, Glycosylated/analysis ; Humans ; Incidence ; Infant ; Male ; Peripheral Nervous System Diseases/epidemiology ; Retrospective Studies