BACKGROUND: Methicillin-resistant Staphylococcus aureus(MRSA) is an increasingly common cause of nosocomial infections worldwide. Epidemiologic investigation of MRSA outbreaks and identification of pathways of nosocomial MRSA spread require the ability to distinguish individual MRSA strains. We applied molecular tap ing of the methicillin-resistant determinant (mec) and coagulase typing in the investigation of a nosocomial MRSA infections. METHODS: We randomly selected 79 strains of mecA positive MRSA isolated from patients who visited Dong-A university Hospital from Dec. 1995 to Oct. 1996. Molecular typing of MRSA was performed by comparing the size of the mac-associated hypervariable region amplified by the polymerase chain reaction (PCR). Coagulase typing with type I-VIII antisera was also used for classification of MRSA based on its phenotype. Each isolates were classified by the combination of molecular analyses and coagulase type. RESULTS: The 79 MRSA isolates were grouped Into sin hypervariable legion (HVR) genotypes on the basis of the size of the PGR products. In coagulase typing, the most predominant type was II(46.8%) and type V was not found. Nine strains were not typable. The combination of HVR genotypes and coagulase types showed 23 different types in 79 MRSA Isolates. The strains which were repeatedly isolated from the same patients showed the same HYR genotypes and coagulate types. CONCLUSION: The combination of HVR genotypes and coagulase types is thought to be useful in epidemiolgical Investigation of nosocomial infections caused by MRSA ,because of its simplicity and reproducibility.
Classification ; Coagulase* ; Cross Infection* ; Disease Outbreaks ; Genotype ; Humans ; Immune Sera ; Methicillin Resistance* ; Methicillin-Resistant Staphylococcus aureus* ; Molecular Typing* ; Phenotype ; Polymerase Chain Reaction ; Staphylococcus

BACKGROUND: Recent DNA polymorphism analysis using numerous DNA markers has been used to determine the parental origin of the extra chromosome 21 in Down syndrome. In this study we used seven dinucleotide repeat polymorphisms on chromosome 21 to characterize a case of rea(21q21q) and to know whether it is consistent with an isochromosome or a true Robertsonian translocation. METHODS: Cytogenetic investigation was done by conventional G banding DNA was extracted from whole blood of a proband and her parents and was amplified by PCR using seven sets of (GT)n repeat dinucleotide markers located on the long arm of chromosome 21 After electrophoresis of the PCR product in polyacrylamide gel and silver staining the parental origin and number of DNA copy were determined by visual comparison of the band intensities within and between individuals. RESULTS: Conventional cytogenetics showed that the proband had a 46.XX.re(21q21q) chromosome pattern. Parental chromosome studies were normal, therefore, the rearrangement was a de novo event. All seven DNA markers showed one or two alleles, demonstrating rea(21q21q) to be an isochromosome. For D21S215 and D21S156 markers both parents were heterozygous and the proband inherited one copy of paternal allele and two copies of maternal allele which both parents did not share. This finding was consistent with a maternally derided isochromosome. CONCLUSION: Use of dinucleotide repeat DNA polymorphisms after PCR amplification will be very useful to detect the parental origin of additional chromosome 21 or rearrangement of chromosome 21 in Down syndrome. Besides employing siltier staining of a PCR product we will be able to avoid using of radioisotopes and apply to clinical laboratory diagnosis.
Alleles ; Arm ; Chromosomes, Human, Pair 21 ; Clinical Laboratory Techniques ; Cytogenetics ; Dinucleotide Repeats* ; DNA ; Down Syndrome ; Electrophoresis ; Genetic Markers ; Humans ; Isochromosomes ; Parents ; Polymerase Chain Reaction ; Radioisotopes ; Silver Staining

BACKGROUND: In renal transplantation, a good HLA-DR match Is associated with successive graft outcome. But due to a number of technical problems, reliable serological DR typing cannot always be obtained. To compare the serological DR typing with DRBI DNA typing, we tested 103 specimens that had been frozen after serological typing, by PCR-SSOP typing method. METHODS: Serological DR typing was performed by complement-dependent microlymphocytotoxicity technique using commercial antisera kits, and DNA gyp ins was performed by PCR-SSOP, using one of the methods recommended by 12th International Histocompatibility Workshop. DNA amplification was done by DRBAMP-A and DRBAMP-B primers, and hybridization by 18 oligonucleotides labelled with digoxigenin.. RESULTS: The concordance rate between serologic typing and DNA typing was 76.7%. Most (79.0%) of discordant results were due to serological blanks turning out to be definable antigens by DNA typing and these antigens consisted of mainly DR5 splits but none of DR1, DR2, or DR7. CONCLUSIONS: In spite of technical improvement, serological typing method often can not define the accurate HLA-DR type. It is thought that combining serological typing with DNA typing Is necessary to achieve a higher success rate of graft outcome.
Digoxigenin ; DNA ; DNA Fingerprinting ; Education ; Histocompatibility ; HLA-DR Antigens* ; Immune Sera ; Kidney Transplantation ; Oligonucleotides ; Transplants

Here the author reviews the clinical and pathologic characteristics of dementia with Lewy bodies (DLB). DLB took many years to crystallize into a recognizable clinico-pathologic entity. Based on sensitive immunostaining technique, DLB is now considered the second most commonest cause of neurodegenerative dementia in the elderly. It is part of the range of clinical presentations that share a neuritic pathology based on abnormal aggregation of the synaptic protein alpha-synuclein. Lewy body pathology is found from the brainstem to the cortex and, in many cases, associated with concurrent Alzheimer' disease pathology. A recent international consortium on DLB has resulted in revised criteria for the clinical and pathological diagnosis of DLB incorporating new information about the clinical features and improved methods for their assessment. Neuropathologic diagnosis now assigns a weight to both alpha-synuclein and Alzheimer tangle pathology. Accurate identification of patients is important because they have specific symptoms, impairments, and functional disabilities that differ from those of other dementing illness including Alzheimer's disease.
Aged ; alpha-Synuclein ; Alzheimer Disease ; Brain Stem ; Dementia* ; Diagnosis ; Humans ; Lewy Bodies* ; Pathology

Most histories of senile dementia begin with Alois Alzheimer's description in 1906 of the first case of Alzheimer's disease. However, the history of senile dementia is quite rich, dating back to the ancient Greek and Roman philosophers and physicians, so the history of dementia is probably as old as mankind itself. Although senile dementia has been recognized as a condition of aged individuals since at least the time of Pythagoras in the 7th century B.C., because it was dismissed as an inevitable feature of aging, it remained largely an uninvestigated disorder until the 19th century. An introduction of a scientific approach to clinical observation and the systematized classification of mental disorders in the mid-19th century that senile dementia began to be differentiated from other dementias, and was established as its own defined class of mental disorder. The identification of Alzheimer's disease at the onset of the 20th century was a turning point for the understanding of senile dementia, and the concepts and histological findings presented by the early researchers of Alzheimer's disease remain relevant still today. Here the author traces the history of the evolution of our current conceptualization of Alzheimer's disease from the Greek-Roman concept of age-associated dementia.
Aged ; Aging ; Alzheimer Disease ; Dementia ; Humans ; Mental Disorders

Pallister-Killian syndrome is a rare disorder characterized by multiple congenital anomalies, coarse face, profound mental retardation, and epilepsy. Chromosomes of peripheral lymphocytes are usually normal, however, tissue cultures show varying degree of mosaicism for an extra metacentric chromosome i(12)(p10). We report on a two-year-old boy with Pallister-Killian syndrome confirmed by FISH in cultured skin fibroblasts. The patient had myoclonic seizures beginning at 2 months and was delayed in physical and speech development. Craniofacial manifestations include sparsity of scalp hair, hypertelorism, sparse eyebrows, flat nasal bridge, and large ears. Cytogenetic analysis of peripheral lymphocytes done at another hospital was reported to be normal. Studies of his skin fibroblasts showed an extra small metacentric i(12p) chromosome in 100% of metaphases. FISH using of whole chromosome painting probe for chromosome 12 confirmed that the supernumerary chromosome was an isochromosome 12p.
Chromosome Painting ; Chromosomes, Human, Pair 12 ; Cytogenetic Analysis ; Ear ; Epilepsy ; Eyebrows ; Fibroblasts* ; Hair ; Humans ; Hypertelorism ; Intellectual Disability ; Isochromosomes ; Lymphocytes ; Male ; Metaphase ; Mosaicism ; Scalp ; Seizures ; Skin*

Dual oxidase maturation factor 2 (DUOXA2) is necessary for the enzymatic activity of dual oxidase 2 (DUOX2) to generate hydrogen peroxide production during thyroid hormone synthesis. We describe two Korean children, who were initially suspected to have transient congenital hypothyroidism (CH), but later confirmed to have permanent CH caused by DUOXA2 mutation. Treatment with levothyroxine was discontinued after confirming thyroid-stimulating hormone (TSH) level to be below 10 μU/mL and normal thyroid scan at the first or second trial-off therapy. However, after therapy cessation, TSH elevated to more than 10 μU/mL, and goiter developed in case 2. As a result, levothyroxine was resumed. Next-generation sequencing showed compound heterozygous mutations of DUOXA2 at Y138X and Y246X in case 1 and homozygous mutations of DUOXA2 at Y246X in case 2. In this report, a longer follow-up is recommended even after treatment termination in transient CH, and genetic studies might help assess the permanence of hypothyroidism in cases of mildly elevated TSH after trial-off therapy.

Mineralizing pulmonary elastosis is a result of chronic alveolar hemorrhage forming iron encrustation of a pulmonary elastic tissue. It has been reported as a complication of some diseases such as bronchiectasis, idiopathic pulmonary hemosiderosis, and cardiac failure. It is extremely rare to occur with a giant cell carcinoma as we experienced. A 59 year-old man visited our hospital for cough and blood tinged sputum. A chest CT scan revealed 10 9 6 cm sized round mass in the left upper lobe. He had lobectomy of left upper lobe, but died of respiratory failure at the postoperative eighteenth day. The lung showed a necrotic tumor and a yellow tan consolidation around the mass. Microscopically, the tumor was composed of nests or syncytia of large bizarre cells and tumor giant cells, and was diagnosed as a giant cell carcinoma. Interestingly, in the surrounding lung parenchyma there were a lot of foreign body type giant cells phagocytizing iron encrustated elastic fibers, which were easily identified by elastic van Gieson and prussian blue stains. Those degenerated elastic fibers appeared in pulmonary interstitial tissue as well as blood vessel walls. The authors concluded tumoral hemorrhage and necrosis resulted in mineralizing pulmonary elastosis.
Blood Vessels ; Bronchiectasis ; Carcinoma, Giant Cell* ; Coloring Agents ; Cough ; Elastic Tissue ; Giant Cells* ; Giant Cells, Foreign-Body ; Heart Failure ; Hemorrhage ; Hemosiderosis ; Humans ; Iron ; Lung ; Middle Aged ; Necrosis ; Respiratory Insufficiency ; Sputum ; Tolnaftate ; Tomography, X-Ray Computed ; Triacetoneamine-N-Oxyl

A retrospective review of the histopathology and clinical information of primary lung cancer was performed to investigate the trends in the histologic type related to sex, age, and smoking history. During January 1988 and July 1995, 541 pateints were diagnosed as primary lung cancer at the Korea Univeristy Anam Hospital. Male (423) to female (118) ratio was 3.6:1. The most frequent histologic type of lung cancer in male patients was squamous cell carcinoma (223 patients, 52.7%) followed by adenocarcinoma (86, 20.3%) and small cell carcinoma (85, 20.1%). In female patients, adenocarcinoma (64, 54.2%) was most common, which was followed by squamous cell carcinoma (22, 18.6%) and small cell carcinoma (22, 18.6%). The incidence of adenocarnimoma had an increased tendency recently (14.3% in 1988, 33.3% in 1995)(P=0.019). The predominant type in smokers was squamous cell carcinoma, whereas adenocarcinoma was the most frequent type in non-smokers. The proportion of patients aged less than 40 years (YOUNGER GROUP) was 4.0% (n=22). Of them, adenocarcinoma (7) and small cell carcinoma (7) were most common. In patients older than 40 years (OLDER GROUP, n=519), 243 (46.8%) patients had squamous cell carcinoma, and 143 (27.6%) adenocarcinoma. As age increased, the prevalence of squamous cell carcinoma was increased (P=0.0005), adenocarcinoma decreased (P=NS), and small cell carcinoma remained unchanged. We suggest above data as a clinical guidance for management of primary lung cancer.
Adenocarcinoma ; Carcinoma, Small Cell ; Carcinoma, Squamous Cell ; Female ; Humans ; Incidence ; Korea ; Lung Neoplasms* ; Lung* ; Male ; Prevalence ; Retrospective Studies ; Smoke ; Smoking

BACKGROUND: Recently, a great deal of interest has been focused on the use of hydroxyurea and hemin that may augment Hb F levels in patients with hemoglobinopathies and thalassemia, although the molecular mechanism of those chemicals remains unclear. In this study, we examined the effects of hydroxyurea and hemin on human adult peripheral and cord blood erythroid cells grown in a two-phase liquid culture system. METHODS: Four adult peripheral and four cord blood cells were cultured in two-phase liquid culture, and were treated with hydroxyurea or hemin. We counted isolated erythroid cells by acid benzidine and glycophorin A stains. To determine whether transcription factor binding to the promoter is critical, we also examined the promoter region of gamma globin gene both under uninduced and hydroxyurea or hemin induced conditions using gel mobility shift assay and southwestern blot analysis. RESULTS: When added together with erythropoietin, hydroxyurea led to significant increase in the percentage of erythroid cells in cord blood. In contrast, hemin greatly accelerated hemoglobin accumulation in adult erythroid progenitor cells. At -230 and -264 regions of gamma globin gene promoter, different protein binding patterns were observed in uninduced and hydroxyurea or hemin induced conditions between adult and cord blood. CONCLUSIONS: These results suggest that hydroxyurea and hemin may act via alteration in DNA-protein interactions to induce gamma globin gene expression. In addition, we can conclude that different transcription factors may be involved in the gamma globin induction process between the adult and cord blood erythroid cells.
Adult ; Blotting, Southwestern ; Coloring Agents ; Electrophoretic Mobility Shift Assay ; Erythroid Cells ; Erythroid Precursor Cells* ; Erythropoietin ; Fetal Blood ; gamma-Globins* ; Gene Expression ; Glycophorin ; Hemin ; Hemoglobinopathies ; Humans ; Hydroxyurea* ; Promoter Regions, Genetic* ; Protein Binding ; Thalassemia ; Transcription Factors