A 54-year-old woman with diabetes mellitus was hospitalized with generalized edema and weakness. She was also found to have hypertension, hypokalemia and metabolic alkalosis. Detailed examination showed subnormal plasma renin activity and plasma aldosterone concentration. Adrenal CT scanning revealed no adrenal tumor. A successful treatment with amiloride established the diagnosis of Liddle's syndrome for the patient. Liddle's syndrome, a rare hereditary disease usually found in young patients, should be considered in the differential diagnosis of hypertension even in elderly individuals.
Aldosterone/deficiency* ; Aldosterone/blood ; Alkalosis/genetics* ; Case Report ; Female ; Human ; Hypertension/etiology ; Hypokalemia/genetics* ; Middle Age ; Renin/deficiency* ; Renin/blood ; Syndrome

Thromboangiitis obliterans (Buerger's disease) is an inflammatory, thromboccluisive vasclar disease that usually involves small and medium sized arteries and veins of the distal extremities of young male smokers. Involvement of cerebral blood vessels in Buerger's disease is rare, but clinical and Pathological demonstration has ionally been found. We describe three patients with cerebral infarction who had amputated their distal extremities due to thromboangiitis obliterans. - they had . No clinical, laboratory, a,ngiographic evidence of vasculitis, source of emboli, and atherosclerotic risk factors except heavy smoking.
Arteries ; Blood Vessels ; Cerebral Infarction ; Extremities ; Humans ; Male ; Risk Factors ; Smoke ; Smoking ; Thromboangiitis Obliterans* ; Vasculitis ; Veins

BACKGROUND AND OBJECTIVES: A biallelic A/G polymorphism in the Monocyte chemotactic protein (MCP) -1 at position -2518 has been found to affect the level of MCP-1 expression. To investigate if these polymorphisms in chemokine ligand and receptor genes are relevant for the development of allergic rhinitis, we investigated polymorphisms of MCP-1 and CC chemokine receptor 2 (CCR2) known as the receptor of MCP-1. MATERIALS AND METHOD: Blood samples for genetic analysis were obtained from 198 individuals with allergic rhinitis and from 278 healthy subjects without atopic diseases. Polymerase chain reaction-based assay for MCP-1 -2518 A/G (A/G polymorphism in the MCP-1 at position -2518) and CCR2 V64I polymorphisms (replacement of valine by isoleucine in CCR2 64) was used for genotyping. RESULTS: There were no differences in the frequencies of the genotypes in the controls and patients (p>0.05). The frequencies of the MCP-1 G and CCR2 A alleles were not statistically different between controls and allergic rhinitis patients (p>0.05). The odds ratios (95% confidence interval) of MCP-1 G/G and CCR2 A/A genotypes for allergic rhinitis were not statistically significant, whereas, alleles frequencies of MCP-1 -2518G and CCR2 A of controls were various according to the ethnic background. CONCLUSION: Our result suggests MCP-1 -2518 A/G and CCR2 V64I polymorphisms are not part of the factors contributing to genetical susceptibility in the development of allergic rhinitis in Koreans.
Alleles ; Genetic Predisposition to Disease* ; Genotype ; Humans ; Isoleucine ; Korea ; Monocytes ; Odds Ratio ; Receptors, CCR2 ; Rhinitis* ; Valine

PURPOSE: Physicians' attitudes may have a strong influence on women's decision regarding prenatal screening options. The aim of this study is to assess the physicians' attitudes toward prenatal screening for fetal aneuploidy including non-invasive prenatal testing (NIPT) in South Korea. MATERIALS AND METHODS: Questionnaires were distributed and collected at several obstetrics-gynecological conferences and meetings. The questionnaire included 31 multiple choice and 5 fill-in-the-blank questions. Seven questions requested physicians' demographic information, 17 questions requested information about the NIPT with cell-free fetal DNA, and 12 questions requested information about general prenatal screening practices. RESULTS: Of the 203 obstetricians that completed the survey. In contrast with professional guidelines recommending the universal offering of aneuploidy screening, only 53.7% answered that prenatal aneuploidy testing (screening and/or invasive diagnostic testing) should be offered to all pregnant women. Physicians tended to have positive attitudes toward the clinical application of NIPT as both primary and secondary screening methods for patients at high-risk for fetal trisomy. However, for patients at average-risk for fetal trisomy, physicians tended to have positive attitudes only as a secondary screening method. Physicians with more knowledge about NIPT were found to tend to inform their patients that the detection rate of NIPT is higher. CONCLUSION: This is the first study to investigate expert opinion on prenatal screening in South Korea. Education of physicians is essential to ensure responsible patient counseling, informed consent, and appropriate management after NIPT.
Aneuploidy* ; Congresses as Topic ; Counseling ; DNA* ; Education ; Expert Testimony ; Female ; Genetic Testing ; Humans ; Informed Consent ; Korea ; Mass Screening ; Methods ; Practice Patterns, Physicians' ; Pregnant Women ; Prenatal Care ; Prenatal Diagnosis* ; Trisomy

No abstract available.
Peripheral Vascular Diseases*

Fabry disease, angiokeratoma corporis diffusum, is a rare X-linked inborn error of glycosphingolipid metabolism due to the lack of the lysosomal enzyme, alpha-galactosidase A, resulting in a progressive deposition of specific neutral glycosphingolipids within the lysosomes of endothelial and smooth muscle cells of the cardiovascular and renal systems predominantly. We reported a case of Fabry disease, following renal biopsy for the investigation of proteinuria(Creatinine clearance 87.28 mL/min/1.73, serum creatinine 1.1 mg/dL, 24-hour urine protein 1,125 mg, 24-hour urine creatinine 1,382 mg). The patient was 46 year old male. He had experienced anterior chest pain regarded as angina pectoris for a few years. A 12- lead electrocardiogram was abnormal(T-wave inversion in II, III, AVF, and V3-V6), but echocardiography and coronary angiography revealed no abnormal. Kidney biopsy findings showed lamella inclusion bodies on electron microscopy, which are typical finding of Fabry disease. The patient is followed at O.P.D without any significant complaints for 18 months after diagnosis of Fabry disease.
alpha-Galactosidase ; Angina Pectoris ; Biopsy* ; Chest Pain ; Coronary Angiography ; Creatinine ; Diagnosis ; Echocardiography ; Electrocardiography ; Fabry Disease* ; Humans ; Inclusion Bodies ; Kidney ; Lysosomes ; Male ; Metabolism ; Microscopy, Electron ; Middle Aged ; Myocytes, Smooth Muscle ; Neutral Glycosphingolipids ; Proteinuria*

OBJECTIVE: The purpose of this study is to assess the clinical characteristics and the serial changes of high resolution CT (HRCT) findings and to correlate those with the results of clinical parameters in biopsy proven nonspecific interstitial pneumonia (NSIP) and usual interstitial pneumonia (UIP) with connective tissue diseases (CTD). METHODS: Retrospective analysis was made of forty patients with CTD diagnosed of NSIP and UIP from a single tertiary hospital between January 1996 and February 2006. RESULTS: UIP was common in rheumatoid arthritis, systemic sclerosis and Sjogren's syndrome, while NSIP was frequent in polymyositis/dermatomyositis. No significant difference was found in the clinical characteristics of patients with NSIP and UIP. In initial HRCT findings, extents of honeycombing and reticulation pattern were significantly more in UIP-CTD than in NSIP-CTD. In bronchoalveolar lavage (BAL) results, proportion of alveolar macrophages was significantly higher in NSIP-CTD than in UIP-CTD. In NSIP-CTD, significant increment in the extent of reticulation and honeycombing was noted in the serial HRCT findings despite the aggressive treatment. Significant correlation was found between leukocytosis and honeycombing change in NSIP-CTD. Despite no significant difference of survival between two groups, patients with UIP-CTD seem to have a higher mortality than those with NSIP-CTD. CONCLUSION: It is suggested that chest HRCT and BAL fluid analysis may be helpful in the differential diagnosis of NSIP- and UIP-CTD and leukocytosis in initial blood test might be predictive of honeycombing progression in NSIP-CTD. Further study will be required to compare with the prognosis of NSIP- and UIP-CTD.
Arthritis, Rheumatoid ; Biopsy ; Bronchoalveolar Lavage ; Connective Tissue Diseases* ; Connective Tissue* ; Diagnosis, Differential ; Hematologic Tests ; Humans ; Idiopathic Pulmonary Fibrosis* ; Leukocytosis ; Lung Diseases, Interstitial ; Macrophages, Alveolar ; Mortality ; Prognosis ; Retrospective Studies ; Scleroderma, Systemic ; Sjogren's Syndrome ; Tertiary Care Centers ; Thorax ; Tomography, X-Ray Computed

BACKGROUND AND OBJECTIVES: CC chemokine receptor (CCR5) is characteristic of the Th 1 phenotype, the receptor of RANTES, MIP-1alphaand MIP-1beta. The receptor of CCR5 delta32 (a 32 bp deletion in the CCR5 gene, mutant type) results in the production of a non-functional receptor. Given the potential importance of CCR5 in allergic inflammation, we hypothesized that individuals carrying the CCR5 delta32 allele would show a reduced prevalence of allergic rhinitis. SUBJECTS AND METHOD: Blood samples for genetic analysis were obtained from 187 individuals with allergic rhinitis and from 278 healthy subjects without atopic diseases. Polymerase chain reaction-based assay for the CCR5 gene polymorphism was used for genotyping. RESULTS: We could not find the CCR5 delta32 homozygotes and heterozygotes at all in neither of the controls nor allergic rhinitis Korean patients. CONCLUSION: Since the CCR5 delta32 allele frequency did not deviate from that in the healthy control population, it is unlikely that this allele influences predisposition to allergic rhinitis in Koreans.
Alleles ; Asian Continental Ancestry Group ; Chemokine CCL4 ; Chemokine CCL5 ; Gene Frequency ; Heterozygote ; Homozygote ; Humans ; Inflammation ; Phenotype ; Prevalence* ; Receptors, CCR ; Receptors, CCR5 ; Rhinitis*

Growth factors are polypeptide molecules that regulate cell growth and function by binding with high affinity to specific receptor molecules in the plasma membrane and stimulating receptor mediated action of intracellular signal transduction pathway.Epidermal growth factor(EGF) and their receptors(EGFR) regulate normal cellular growth, proliferation, and differentiation of various cells in vivo and in tissue cultures. And also may contribute directly to oncogenesis.Overexpression of EGFR and autocrine stimulation of growth involving this receptor system has been identified in several types of human neoplasia. There is evidence that the EGF and receptor system is involved in the regulation of follicular cell growth in the thyroid gland especially with immunohistochemical technic. But there was a challenge about the validity of previously performed immunohistochemical studies.In the study we investigated the relationship between EGFR mRNA expression and tumorigenesis by rapid in situ hybridization method. Formalin-fixed, paraffin embedded tissue sections of 10 normal, 17 nodular hyperplasia, 6 follicular adenoma, and 15 papillary cancer were examined. The results were as follows:1) EGFR mRNA positivity were 20%(2/10) in normal thyroid, 70%(12/17) in nodular hyperplasia, and 100% in follicular adenoma and papillary cancer.2) There was a significantly increased EGFR mRNA expression in papillary cancer compare to normal and nodular hyperplasia(p<0.05). But no difference was found with papillary cancer and follicular adenoma.3) There was a significantly increased EGFR mRNA expression in follicular adenoma compare to normal (p<0.05). But no difference was found with follicular adenoma and nodular hyperplasia. These results suggest that an overexpression of EGFR mRNA may play an important role in the tumorigenesis of thyroid tissue.
Adenoma ; Carcinogenesis ; Cell Membrane ; Epidermal Growth Factor ; Humans ; Hyperplasia ; In Situ Hybridization ; Intercellular Signaling Peptides and Proteins ; Methods ; Paraffin ; Receptor, Epidermal Growth Factor ; RNA, Messenger ; Signal Transduction ; Thyroid Gland

BACKGROUND: Bone marrow transplantation is the treatment of choice for patients with certain- hematological malignancies, many of whom will survive many years thereafter. Bone disease is a potential longterm complication. But, little is known about the effects of bone marrow transplantation on bone. METHODS: In this study, bone marrow was obtained from healthy donor and transplant recipients. Then mononuclear cells including marrow stromal cells were isolated and cultured. At near confluence, bone marrow stromal cells were subcultured. Thereafter alkaline phosphatase activities of each group were measured by time course of secondary culture. We also analysed the origin of marrow stromal cells by the polymerase chain reaction using YNZ 22 minisatellite probe. RESULTS: l. Cells cultured in our system showed the characteristics of marrow stromal cells differentiated to osteoblasts. They were in fibroblast-like spindle shape and positive to alkaline pbosphatase histochemistry and Von Kossa histochemistry in secondary cultures. 2. The time required for the near confluence in the primary culture was 15 days and 22.9 days on the average in healthy donors and transplant recipients, respectively (p=0.003). 3. In secondary cultures, healthy donors and transplant recipients showed peak alkaline phosphatase activity at 10 days and 17 days, respectively (p=0.031). Alkaline phosphatase activity was lower in BMT recipients than in healthy donors during the whole period of secondary cultures. 4. In polymerase chain reaction analysis using YNZ 22 minisatellite probe, bone marrow stromal cells were of recipient origin. CONCLUSION: Recipient-derived bone marrow stromal cells may be damaged secondary to the effect of chemotherapy, glucocorticoid & total body irradiation which have given before bone marrow transplantation. So it may affect the differentiation of bone marrow stromal cells into the osteoblasts.
Alkaline Phosphatase ; Bone Diseases ; Bone Marrow Transplantation ; Bone Marrow* ; Drug Therapy ; Hematologic Neoplasms ; Hematopoietic Stem Cell Transplantation* ; Hematopoietic Stem Cells* ; Humans* ; Mesenchymal Stromal Cells* ; Minisatellite Repeats ; Osteoblasts* ; Polymerase Chain Reaction ; Stromal Cells ; Tissue Donors ; Transplantation ; Whole-Body Irradiation