PURPOSE: Germline mutation of the RET oncogene results in multiple endocrine neoplasia (MEN) types 2A and 2B and familial medullary thyroid cancer (FMTC). We reviewed the literature to determine the mutation patterns of the RET oncogene in Koreans with MEN-2A, 2B and FMTC. METHODS: We retrieved the relevant literature using the PubMed (http://www.pubmed.org/) and KoreaMed (http://www.koreamed.org/) databases concerning the RET germline mutations in Korea from 1998 to 2010. We evaluated the pedigree of the patients to exclude the same, repeated families. We collected all the data on the types of mutations and the clinical syndromes. RESULTS: There were 21 studies with a total of 25 families. In the patients with MEN-2A and FMTC, there were 14 mutations (56%) in codon 634, 6 mutations (24%) in codon 618, 2 mutations (8%) in codon 631 and one mutation (4%) in codon 768. In the patients with MEN-2B, there were 2 mutations (8%) in codon 918. D631Y is an extremely rare mutation, but two families with such a mutation existed in Korea. The frequency of codon 634 mutations in the patients with MEN-2A was relatively lower than that of the previously reports from western countries and the frequency of codon 618 mutations was relatively higher than that in the western countries. CONCLUSION: This study shows there are hot spots and genotype- phenotype correlations for the RET oncogene mutations in Koreans.
Codon ; Germ-Line Mutation* ; Humans ; Korea ; Multiple Endocrine Neoplasia ; Oncogenes* ; Pedigree ; Phenotype ; Thyroid Gland* ; Thyroid Neoplasms*

BACKGROUND: Detection of antibodies to extractable nuclear antigens (ENAs) and dsDNA is needed for the diagnosis of and predicting prognosis in systemic autoimmune diseases. Recently introduced line immunoassay (LIA) has the advantage of detecting several autoantibodies simultaneously, and we evaluated its usefulness in the diagnosis of autoimmune diseases in comparison with enzyme-linked immunosorbent assay (ELISA). METHODS: Samples were collected from 437 patients referred by rheumatologists. FANA (fluorescent antinuclear antibody) test and LIA for the detection of 13 different autoantibodies, including 6 ENAs and dsDNA were performed. LIA-positive samples for ENA or dsDNA antibodies were further tested with ELISA. Final diagnosis was made by rheumatologists according to the diagnostic criteria. Agreement of results between LIA and ELISA was analyzed in 53 selected patients with systemic autoimmune diseases. RESULTS: The LIA detected antibodies to ENA and dsDNA in 118 and 22 patients, respectively, and ELISA detected 70.3% (83/118) and 45.5% (10/22) of LIA positive samples. Especially, 60.2% (71/118) of patients with positive ENA antibody on LIA was diagnosed as systemic autoimmune diseases. Patients having strong FANA titer and homogenous/speckled pattern showed higher prevalence of autoantibodies, but a small proportion of FANA negative patients also showed positive reactivity (LIA 10.8%, ELISA 5.2%). LIA showed a good agreement with ELISA for the anti-ENA antibodies (> or =80%), and a lower agreement for the anti-dsDNA antibody (67.9%). CONCLUSIONS: LIA detecting several autoantibodies simultaneously might replace ELISA for anti-ENA antibodies, but not for anti-dsDNA antibodies. When LIA is performed considering clinical manifestations and FANA, it could contribute to the diagnosis of systemic autoimmune disease.
Antibodies, Antinuclear/*analysis ; Antigens, Nuclear/immunology ; Autoimmune Diseases/*diagnosis ; DNA/*immunology ; Enzyme-Linked Immunosorbent Assay ; Female ; Fluorescent Antibody Technique, Indirect ; Humans ; *Immunoassay ; Male ; Middle Aged ; Reagent Kits, Diagnostic ; Reproducibility of Results

No abstract available.
Lingual Thyroid*

Objective and METHOD: In order to identify the aggravating agents for intrinsic asthma, we performed ASA- and food additive-challenge tests on 182 subjects diagnosed as having intrinsic asthma. The following tests were performed: Lysine-aspirin bronchoprovocation test to confirm aspirin-sensitivity, sodium bi-sulfite (40-200mg) oral provocation test for sulfite sensitivity, tartrazine oral provocation test (50mg) for tartrazine sensitivity, and sodium benzoate (400mg) oral provocation test for sodium benzoate sensitivity. Positive reaction was defined as decrease in FEV, by more than 20% from the baseline value after the provocation. RESULT: Seventy-five (41.2%) of 182 subjects showed positive responses to more than one agent among the aspirin and three food additives challenged. The prevalence of aspirin-sensitivity was the highest (22.5%), followed by sulfite-sensitivity (8.8%), and then concurrent sensitivity to both aspirin and sulfite (6.0% ), to both aspirin and tartrazine (1.6% ), to aspirin, sulfite and tartrazine (1.1%) and to aspirin, sulfite and sodium benzoate (0.5%). Rhino-sinusitis was noted in 62.5% of aspirin-sensitive asthmatic subjects, 60% of sulfite-sensitive ones, and 80% of tartrazine-sensitive ones. Urticaria was noted in 21.4% of aspirin-sensitive asthmatic subjects, 16.6% of sulfite-sensitive ones and 6.3% of tartrazine-sensitive ones. Thirty-seven to 83% of positive responders had no adverse reaction history. CONCLUSION: These findings suggest that ASA and food additive challenge tests should be considered as a screening test to evaluate any aggravating factors in subjects with intrinsic asthma, even though they may not have experienced any adverse reactions.
Aspirin* ; Asthma* ; Food Additives* ; Mass Screening ; Prevalence ; Sodium ; Sodium Benzoate ; Tartrazine ; Urticaria

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease, characterized by cafe-au-lait spot, axillary and inguinal freckle, peripheral neurofibroma and pigmented iris hamartoma. The various cancer incidences are increased in the NF1. But NF1 with breast cancer is rare. In this report we present a case of a 46-year-old NF1 female with a bilateral metachronous breast cancer. The patient has no BRCA2 mutation, but there are two unclassified variants in the exon 11 of BRCA1. The possibility of LOH of BRCA1 gene in the cancer tissue cannot be excluded.
Breast ; Breast Neoplasms ; Cafe-au-Lait Spots ; Exons ; Female ; Genes, BRCA1 ; Hamartoma ; Humans ; Incidence ; Iris ; Melanosis ; Middle Aged ; Neurofibroma ; Neurofibromatoses ; Neurofibromatosis 1

The principles determining the primary localization of lesions in fixed drug eruption (FDE) are still unknown. Studies investigating the predilection areas in FDE have indicated drug-related, trauma-related, or inflammation-related specific site involvement, as well as visceracutaneous reflex-related specific site involvement. The importance of viscerocutaneous reflexes for the location of dermatoses was first recognized in the 1960s. Head's zones are viscerocutaneous reflex projection fields on the skin that extend over certain dermatomes and possess a reflex-associated maximal point. Recently, in a Turkish collective of patients, three women with the primary location of FDE lesions on the maximal points of Head's zones were presented. We also experienced 3 cases with FDE where the lesions were located at specific sites (buttocks), the so-called maximal points of Head's zones, which are known to be the most active dermatomal areas of an underlying visceral pathology. An underlying internal disturbance (ureter stone, pyelonephritis and chronic pelvic inflammatory disease) was found in all 3 patients, corresponding to the organ-related maximal point of Head's zones in each case. In conclusion, the primary location of FDE lesions on the maximal points of Head's zones revealed relevant organ disorders with corresponding projection fields.
Drug Eruptions ; Female ; Humans ; Pyelonephritis ; Reflex ; Skin ; Skin Diseases

Salivary duct carcinoma is a distinctive salivary gland neoplasm, morphologically characterized by intraductal and infiltrating components. It is an uncommon malignant tumor that occurs in the major salivary glands and its biological behaviour is highly aggressive. Therefore, a salivary duct carcinoma is regarded as a high-grade malignancy. We experienced two cases of salivary duct carcinoma in parotid gland and submandibular gland. The clinicopathologic features of these tumors are presented with a review of literature.
Parotid Gland ; Salivary Ducts* ; Salivary Gland Neoplasms ; Salivary Glands ; Submandibular Gland

No abstract available.
Gene Expression ; Humans ; Keratinocytes ; Skin ; Transcriptome

Methylprednisolone (MP) is administered by means of intravenous pulse therapy especially in the patients with focal segmental glomerulosclerosis (FSGS). There have been reports of its complications in a few increasing frequency. We experienced three cases of cardiac complications during intravenous pulse therapy. There were one case of 2 A-V block (Mobitz type I) and two cases of bradycardia and hypotension. In the former, 2 A-V block in the first case deveoloped 45 hours after MP infusion and subsided subsequently but reappeared at his EKG checked after 4 months. All of these complications resolved spontaneously. We should be awared of the fact that arrythmia resulting from MP infusion can be fetal. Therefore when IMPT are attempted, we should keep in mind of emergency life-saving preparations at bedside.
Arrhythmias, Cardiac* ; Bradycardia ; Electrocardiography ; Emergencies ; Glomerulosclerosis, Focal Segmental ; Humans ; Hypotension ; Methylprednisolone*

BACKGROUND AND OBJECTIVES: Videostrobokymography (VSK) has been recently developed in our institute. VSK can select multiple regions of interest and analyze vibratory patterns of vocal folds using video data recorded by the conventional videostroboscopy. But the efficacy of VSK in clinical application needs to be proven. MATERIALS AND METHODS: We compared the preoperative and postoperative VSK patterns of Reinke's edema in 15 cases with some other parameters. RESULTS: Most of the patients showed improvement of voice quality by self-assessment, however, the fundamental frequency and subglottic pressure did not return to the normal range after operation. Preoperative videostroboscopy for Reinke's edema patients revealed greatly irregular patterns of mucosal wave so that kymogram could be obtained only in 3 of the 8 preoperative examinations. However, postoperative vibration of the vocal folds returned to the regular pattern on VSK. CONCLUSION: VSK could serve as one of the effective tools to document the vocal fold vibration objectively in various kinds of benign mucosal diseases of the vocal folds.
Edema* ; Humans ; Reference Values ; Self-Assessment ; Vibration ; Vocal Cords ; Voice Quality