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*

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

Angioedema is a well-demarcated localized edema involving the deeper layers of the skin, including the subcutaneous tissue. Angioedema occurs with Cl esterase inhibitor (Cl INH) deficiency that may be inborn as an autosomal dominant characteristic or may be acquired. Acquired angioedema (AAE) is a rare disorder characterized by adult onset and lack of evidence of inheritance of the disease. Two types of AAE are known today: type I in which there are lowering of functional Cl INH, an underlying disease such as a B-cell disease, and no detectable autoantibodies to Cl INH, type II with anti Cl INH autoantibodies in the circulation without detectable underlying disease and with depressed functional Cl INH levels. We experienced a case of angioedema in a 29-year old man. He had no family history of angioedema and laboratory data showed depressed Cl-INH levels. We diagnosed the case as acquired type of angioedema. Even though we could not measure anti-Cl INH auto-antibodies, we identified the case as type II because there was no evidence of underlying disease.
Adult ; Angioedema* ; Angioedemas, Hereditary* ; Autoantibodies ; B-Lymphocytes ; Complement C1 Inhibitor Protein* ; Complement C1s* ; Edema ; Humans ; Skin ; Subcutaneous Tissue ; Wills

No abstract available.
Aortic Coarctation*

We studied the incidence and results of treatment of secondary hypertension in Yeungnam University Hospital. Nineteen hundred fifty patients with hypertension were included from march 1990 to march 1994. We analysed the prevalence of secondary hypertension and results of treatment. The incidence of secondary hypertension in Yeungnam University Hospital was six percent. The most common underlying causes of secondary hypertension was renal parenchymal disease. Patients with three forms of potentially reversible secondary hypertension, namely, renovascular hypertension, endocrine disease, exogenous hormone, were assed to determine whether surgery or withdrawal of the exogenous hormane had led to an improvement in blood pressure control. The incidence of secondary hypertension in Yeungnam University Hospital was low(6%), but some of these are curable. Thus it is very inportant that evaluate the secondary hypertension.
Blood Pressure ; Endocrine System Diseases ; Equidae ; Humans ; Hypertension* ; Hypertension, Renovascular ; Incidence ; Prevalence

Nerve sheath myxoma or neurothekeoma, a rare cutaneous neoplasm probably originating from the nerve sheath, is classified into three groups as classical, cellular, and mixed types based on cellularity, mucin content and growth patterns. Only two cases of nerve sheath myxoma have been reported in the Korean literatures. We report a case of nerve sheath myxoma occurring on the scalp of a 29 year-old woman. It was identified as the mixed type by histopathological, immunohistochemical and electronmicroscopic findings.
Adult ; Female ; Humans ; Mucins ; Neurothekeoma* ; Scalp ; Talus

PURPOSE: To find the risk factors associated with coronory artery lesions, non-responsiveness to intravenous immunoglobulin(IVIG) treatment, and recurrences in Kawasaki disease patients. METHODS: We retrospectively analyzed 1,000 Kawasaki disease patients who were admitted to Yonsei University Medical Center from September 1990 to December 2003. We compared between responder and non-responder groups to IVIG treatment as well as between relapsed and non-relapsed groups, and as to the relapsed group, we also compared variables between patients in their first and second attack states. Finally, factors associated with longer-fever duration from disease onset were evaluated. RESULTS: Longer fever durations before and after IVIG treatment, male sex, lower Hgb and Hct level, higher WBC count and segmented WBC proportion, and higher CRP and Harada's score were related with coronary artery lesions. Non-responsiveness was related to higher WBC count, segmented WBC proportion, CRP, SGPT, Harada's score, and pyuria. Moderate-to-severe coronary artery dilatations and recurrences were more commonly seen among the non-responder group. No significant predictive factors for recurrence were found. In the relapsed group, lower WBC count, CRP, and shorter fever duration from disease onset were observed in their second attack state. Fever duration from disease onset showed positive correlation with WBC count, CRP, and Harada's score and negative correlation with Hgb levels. CONCLUSION: Higher WBC count, CRP, and higher Harada's score were related to both higher incidences of coronary artery lesions and non-responsiveness to IVIG treatment, and these factors were also related with longer fever duration. Non-responders to IVIG treatment showed higher recurrence rate and more moderate-to-severe coronary artery dilatations than responders.
Academic Medical Centers ; Alanine Transaminase ; Arteries ; Coronary Vessels ; Dilatation ; Fever ; Humans ; Immunoglobulins, Intravenous ; Incidence ; Male ; Mucocutaneous Lymph Node Syndrome* ; Pyuria ; Recurrence ; Retrospective Studies ; Risk Factors ; Treatment Failure ; Treatment Outcome

Adenoaquamous carcinoma of stomach is a extremely rare malignant tumor which is composed of the mixed giandular-epidermoid neoplastic comyonnts. The pathogenesis of this neoplasm remains obscure and has various different theories, such as the origin of squamous components are island of ectopic squamous epithelium in the, gastric mucosa, squamous metaplasia of gastric epithelium, squamous differentiation in a preexisting adenocarcinoma, endotheliai cell differentiated toward squamous elements, and totipotential undifferentiated cells of the gastric mucosa. Primary adenosquamous carcinoma(ASC) was classified into two types, differentiated type adenocarcinomatous component(DAC) and undifferentiated type adenocarcinomatous component(UAC), according to the degree of glandular formation of the adenocarcinomatous elements. As a consequence, with respect to biologic behavior, ASC with DAC was similar to the differentiated type adenocarinoma, and ASC with UAC to the undifferentiated type adenocarcinoma. Accodingly, the behavioristic features of ASC seemed to be governed by the adenocarcinomatous component. We reported a case of primary gastric adenosquamous carcinoma with undifferentiated type adenocarcinomatous component.
Adenocarcinoma ; Carcinoma, Adenosquamous* ; Epithelium ; Gastric Mucosa ; Metaplasia ; Stomach Neoplasms ; Stomach*

A 22-year-old male patient presented to the clinic with severe pain in the preauricular area with an inability to completely occlude the jaw. Facial computed tomography and magnetic resonance imaging revealed a well-defined lesion that was tentatively diagnosed as a benign tumor or cystic mass. Surgical approach of a lesion in the condyle is delicate and problematic as many vulnerable anatomical structures are present. There are several methods for surgery in this area. Typically, an extraoral approach is dangerous because of potential injuries to nerves and arteries. The intraoral approach also presents difficulties due to the lack of visibility and accessibility. On occasion, coronoidectomy may be performed. The goal here was to determine an easier and safer new surgical approach to the condyle. We reached the anterior part of the pterygoid plate in the same method as in Le Fort I surgery.From this point, through the external pterygoid muscle, approaching the anterior aspect of the condyle is relatively easy and safe, with minimal damage to the surrounding tissues. Pus was drained at the site, and the lesion was diagnosed as an abscess. Pain and inability to close the mouth resolved without recurrence.

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*