PURPOSE:Varying clinical phenotypes are associated with the chromosome 22q11.2 microdeletion syndrome. The endocrine manifestation are latent or overt hypoparathyroidism, thyroid dysfunction and short stature. This study was undertaken to investigate frequencies of endocrine abnormalities and short stature in patients with the chromosome 22q11.2 microdeletion syndrome. METHODS:Forty three unrelated patients were diagnosed having chromosome 22q11.2 microdeletion syndrome. Chromosomal microdeletion was confirmed by fluorescent in situ hybridation (FISH) with DNA probe (22q11.2 LSI TUPLE1 from Vysis). Serum total calcium and intact parathyroid hormone (PTH) were measured in all patients. Thyroid function tests including free thyroxine(T4), thyroid stimulating hormone (TSH) and thyroid autoantibodies were performed in all patients. Insulin-like growth factor-1 (IGF-1) was measured in 10 patients. Height, weight and body mass index were compared with chronological age in all patients. RESULTS:Seven patients (16%) had an overt hypoparathyroidism, presenting with hypocalcemic tetany. Thirteen patients (31%) showing hypocalcemia with normal PTH were regarded as having latent hypoparathyroidism since their PTH secretion response was blunted. Out of 2 patients with thyroid diseases, one patient had Graves disease and the other had Hashimoto thyroiditis. Five patients (12%) were below the 3rd percentile in height at evaluation. The BMI was below the 5th percentile in 23% of patients. CONCLUSION: Twenty patients (47%) presented with overt and latent hypoparathyroidism. Interestingly, autoimmune thyroid diseases such as Graves disease and Hashimoto thyroiditis were associated in patients with chromosome 22q11.2 microdeletion, indicating predisposition to autoimmune disorders. Therefore, a careful endocrine and growth evaluation is needed in these patients.
Autoantibodies ; Body Mass Index ; Calcium ; DNA ; Graves Disease ; Hashimoto Disease ; Humans ; Hypocalcemia ; Hypoparathyroidism ; Parathyroid Hormone ; Phenotype ; Tetany ; Thyroid Diseases ; Thyroid Function Tests ; Thyroid Gland ; Thyrotropin

BACKGROUND: According to the 1992 version of ACLS guideline, adenosine is recommended as the first line drug far the treatment of paroxysmal supraventricular tachycardia(PSYT). But adenosine is not used frequently in our country, despite currency proven effect and safety. Therefore we tried to compare the efficacy and safety of adenosine with verapamil for the treatment far PSVT. MATERIALS AND METHODS: We prospectively reviewed charles of PSVT patients admitted to YongDong Severance Hospital from Jan. 1995 to Dec. 1996. These patients were randomly divided into two groups. The flat group was given 6mg of adenosine initially, and another 12mg was given within 5 minutes if fast dose failed. The other group was given 5mg of verapamil initially, and if failed, 10mg was given within 10 minutes. The results were analyzed by Chi-square test and student-t method. RESULTS: In converting PSVT to normal rhythm, adenosine and verapamil showed similar results and there was no difference between the two Groups in frequency of side elects, but serious arrhythmia such as ventricular fibrillation and ventricular tachycardia was not seen in the adenosine group. CONCLUSION: Adenosine not only showed comparable effect and safety, but also had shorter action time than verapamil. Therefore we recommand adenosine, as a safe and effective fort line drug for PSVT.
Adenosine* ; Arrhythmias, Cardiac ; Humans ; Prospective Studies ; Tachycardia, Supraventricular* ; Tachycardia, Ventricular ; Ventricular Fibrillation ; Verapamil*

Acute posterior multifocal placoid pigment epitheliopathy(APMPPE), first described in 1968 by Gass, is chracterized by rapid loss of central vision secondary to multifocal, yellow-white placoid lesions at the level of the pigment epithelium and choroid and significant visual improvement after spontaneous resolution of the active lesions within several weeks or months. Fluorescein angiography shows chracteristically that the chtoidal fluorescence is not visible at the site of acute lesion in the early arterial and arteriovenous phases and become hyperfluorescent due to staining of the lesions in the late venous phases. We experienced a case of acute multifocal placoid pigment epitheliopathy in 26 years old female patient occurring in both eyes.
Adult ; Choroid ; Epithelium ; Female ; Fluorescein Angiography ; Fluorescence ; Humans

PURPOSE: To establish the interobserver and intraobserver reliability of the Coonrad classification for an idiopathic coronal curve pattern. MATERIALS AND METHODS: Radiographs of 257 idiopathic scoliosis patients that had a rib humping of more than 1 cm and a Cobb angle of more than 10 were reviewed. The interobserver and intraobserver reliability was assessed by a comparison of the classification of the curves between four observers. RESULTS: In the Coonrad classification, a 1A type-curve occurred in 37 cases, the 1B type-curve occurred in 27 cases, the 2A type-curve occurred in 70 cases, a 2B type-curve occurred in 22 cases, a 3 type-curve occurred in 44 cases, a 4 type-curve occurred in 6 cases, a 5 type-curve occurred in 15 cases, a 6 type-curve occurred in 22 cases, a 7 type-curve occurred in 13 cases and a 8 type curve occurre in 1 case. The interobserver reliability for the Coonrad classification was 0.60 and the intraobserver reliability was 0.71. CONCLUSION: The Coonrad classification proved to be relatively reliable, but revealed some confusion, particularly between type 2A and type 3. Also, there seemed to be no advantage in using this method of determining the treatment modality compared with the conventional scoliosis classification system.
Adolescent* ; Classification* ; Humans ; Ribs ; Scoliosis*

No abstract available.
Fetus* ; Humans ; Pregnancy, Twin*

Adrenal cortical carcinoma is a rare disease both in adults and in children. Most of these tumors are functional, especially in children, producing endocrine syndromes such as virilization, Cushing syndrome, hyperaldosteronism or feminization. We experienced a case of adrenal cortical carcinoma in a 7yr old boy who showed features of virilization such as rapid growth rate, penile enlargement, and pubic hair. This case was diagnosed with typical hormonal findings and abdominal MRI and confirmed by pathologic findings. He was successfully treated by total left adrenalectomy and has been followed up without problem over eight months.
Adrenalectomy ; Adrenocortical Carcinoma* ; Adult ; Child ; Cushing Syndrome ; Feminization ; Hair ; Humans ; Hyperaldosteronism ; Magnetic Resonance Imaging ; Male ; Rare Diseases ; Virilism

Subcutaneous granuloma pyogenicum (SGP) is a rare variant of granuloma pyogenicum. In general, it appears as a single subcutaneous nodule with a slight tenderness. We report herein an unusual case of SGP arising from the left palm of an 11-year-old girl. Two mild-tender bean-sized reddish or flesh colored subcutaneous nodules on the lateral border of the left palm, and medial side of 5th left finger, respectively, were noted on physical examination. Histopathologic examination revealed the findings of lobular capillary hemangioma, characterized by localized proliferation of capillary lined by a single endothelial cell layer. Intralesional injection of triamcinolone acetonide (TA) were performed for the treatment. However two new erythematous nodules developed at another area of the left palm, which disappeared without any treatment.
Capillaries ; Child ; Endothelial Cells ; Female ; Fingers ; Granuloma* ; Granuloma, Pyogenic* ; Humans ; Injections, Intralesional ; Physical Examination ; Recurrence* ; Triamcinolone Acetonide

The Epstein-Barr virus(EBV) is known to play a causal role in oncogenesis and to be associated with endemic Burkitt's lymphomas, B cell lymphomas in immunocompromised patients, and nasopharyngeal carcinomas. More recently, EBV has also associated with Hodgkin's disease, B cell lymphomas in non-immunocompromised patients, and T-cell lymphomas. Twenty eight cases of a non-Hodgkin's lymphoma of gastrointestinal tract were investigated to determine both the immunophenotype by using immunohistochemical staining and the incidence of the EBV nuclear antigen by using the polymerase chain reaction. Twenty-four of the 28 cases(85.7%) were B-cell type, and 4 of the 28 cases(14.3%) are of T-cell type. The EBV nuclear antigen was detected in three of the 28 cases(10.7%), including two cases of B-cell lymphoma of the stomach and one case of T-cell lymphoma of the small bowel. The EBV nuclear antigen was more frequently found in malignant lymphomas arising in the intestine(1/4) than in stomach(2/16). EBV positivity (25%) in T-cell NHLs was rather higher than EBV positivity (8.3%) in B-cell NHLs. Further expanded evaluations on the role of EBV in the tumorigenesis of a gastrointestinal malignant lymphomas are necessary because the cases of gastrointestinal lymphomas examined were very limited.
B-Lymphocytes ; Burkitt Lymphoma ; Carcinogenesis ; Gastrointestinal Tract* ; Herpesvirus 4, Human* ; Hodgkin Disease ; Humans ; Immunocompromised Host ; Incidence* ; Lymphoma ; Lymphoma, B-Cell ; Lymphoma, Non-Hodgkin* ; Lymphoma, T-Cell ; Polymerase Chain Reaction ; Stomach ; T-Lymphocytes

PURPOSE: To demonstrate the MR findings of large Schmorl's nodes(>1 cm). Method and Materials: Six hundredpatients underwent MRI and the results were retrospectively analysed. Eleven patients(1.83%) had 12 largeSchmorl's nodes. We analyzed the size, contour, location, signal changes and enhancement of these, as well asmarrow changes in adjacent vertebral bodies. RESULTS: Twelve large Schmorl's nodes were found in eleven of 600patients(1.83%) with a mean age of 46.1 years and a female : male ratio of 4 : 7. Their mean size was 1.35 cm(AP)x 0.99 cm(height) x 1.23 cm(transverse), and they were observed at various sites, namely lower(n=7) and upperend-plate locations(n=5). Central locations(n=8) on end-plates were most common. A semi-lunar appearance was notedin seven cases, and in most, a well-demarcated irregular margin was seen. All large Schmorl's nodes were enhanced; peripheral forms(n=8) were more common than diffuse(n=4). Adjacent discs showed no intranuclear enhancement butin seven cases there was flat-contoured enhancements in the annulus fibrosus. In disks with large Schmorl's nodes,degeneration was noted on T2WI regardless of the degree of diskal herniation. In nearly all cases, signalintensity on T1WI was low, but on T2WI, this was variable. Large Schmorl's nodes showed characteristic marrowchange in adjacent vertebral bodies ; the most common pattern was fatty and sclerotic(n=8). Especially onT1-weighted axial images, target appearances were visible in ten cases. CONCLUSION: MR findings of Schmorl'snodes will be very useful for differentiating nodes from other vertebral or diskal lesions, especially spondylitiscombined with diskitis or vertebral body tumor.
Discitis ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Retrospective Studies

No abstract available.
Coronary Vessels* ; Fistula*