BACKGROUND: The characteristic t(15; 17) of acute promyelocytic leukemia (APL) fuses the retinoic acid receptor alpha (RARA) gene on chromosome 17 to the PML gene on chromosome 15. The test of PML-RARA rearrangement is essential for diagnosis and therapy of APL. We analyzed breakpoints of the PML gene as a basic study for PML-RARA rearrangement test. METHODS: PML-RARA rearrangements, breakpoints of the PML gene and junction sequences were analyzed in 41 patients with APL using RT-PCR and direct sequencing. RESULTS: Forty out of 41 cases revealed PML-RARA rearrangement, of which results coincided with cytogenetic data. Breakpoint distribution was 26 cases in burl (65%), one in bcr2 (2.5%), and 13 in bcr3 (32.5%). Sequencing data showed invariable joining of exon 3 of the RARA gene and exon 6 (bcrl type) or exon 3 (bcr3 type) of the PML gene. One case with bcr2 type had breakpoint in exon 6 of the PML gene with 57 bp deletion. CONCLUSIONS: Bcrl Is the most common breakpoint site of APL in Koreans, and bcy1+2/bcr3 ratio is approximately 2.1. PML-RARA junctions were continuous and joined by a correct splicing event. Breakpoint analysis would be useful in quality control of PML-RARA rearrangement test and the fused protein analysis.
Chromosomes, Human, Pair 15 ; Chromosomes, Human, Pair 17 ; Cytogenetics ; Diagnosis ; Exons ; Humans ; Leukemia, Promyelocytic, Acute* ; Quality Control ; Receptors, Retinoic Acid

No abstract available.

BACKGROUND: Genus of Aspergilli are ubiquitous saprophytic molds in nature, but its change from a saprophytic fungus to a pathogenic organism has occurred since the use of various antibiotics. The fungus affects the chronically ill and debilitated population. Recently frequency of the fungal infection is increasing in Korea with abuse of antibiotics and glucocorticoids. METHOD: We analyzed medical records of 52 patients with pulmonary aspergillosis seen at Hanyang University Hospital from 1980 to 1994. The results were as follows; RESULTS: 1) Ages ranged between second to eighth decades with majority(50%) in the fourth to fifth decades. The male to female ratio was 1.1:1. 2) Hemoptysis and productive cough, the leading symptoms, occurred in 42.3% and 25% respectively. 3) On chest X-ray fingings, the characteristic 'fungus ball' pattern were observed in 53.8% of the 52 cases. 4) Sputum culture for aspergilli were positive in 21.6% of the cases. We performed foe needle aspiration in 22 patients and the diagnostic yield was 100%. 5) Thirty-six patients had history of treatment with antituberculous drugs under diagnosis of pulmonary tuberculosis for an average of 27.3 months. But sputum analysis for acid-fast bacilli were positive in 5.6%(2cases of 36cases), and postoperative pathologic findings showed that 38.9% (12 cases of 28cases) were combined with tuberculosis. 6) Right upper and left upper lobes were predominantly involved(34.6% and 19.2% respectively) and lobectomies were performed in 21 cases. 7) Underlying diseases were present in 47 cases and 48.9% of them were pulmonary tuberculosis. CONCLUSION: These results showed that pulmonary aspergillosis usually develops in patients with open cavitary pulmonary tuberculosis. And we must consider the possibility of pulmonary aspergillosis in a patient with hemoptysis and cavitary lung lesion.
Anti-Bacterial Agents ; Aspergillus ; Chronic Disease ; Cough ; Diagnosis ; Female ; Fungi ; Glucocorticoids ; Hemoptysis ; Humans ; Korea ; Lung ; Male ; Medical Records ; Needles ; Pulmonary Aspergillosis* ; Sputum ; Thorax ; Tuberculosis ; Tuberculosis, Pulmonary

No abstract available.
Paragonimiasis*

No abstract available.
Diagnosis* ; Hemoglobinuria*

No abstract available.
Colon* ; Diverticulitis*

We experienced a case of congenital goiter with congenital hypothyroidism in 45 day-old male, who complained of respiratory difficulty and anterior neck mass. After admission, he was diagnosed congenital hypothyroidism by the clinical manifestations and laboratory tests including biochemistry, radioimmunoassay, radioisotope study, perchlorate discharge test, and bone radiography. We obtained positive finding at the perchlorate discharge test and found that his congenital goiter with congenital hypothyroidism was manifested by organification defect. We started treatment with L-thyroxine orally at 6th hospital day. The case was presented with brief review of literatures.
Biochemistry ; Congenital Hypothyroidism* ; Goiter* ; Humans ; Male ; Neck ; Radiography ; Radioimmunoassay ; Thyroxine

A 44-year-old man had Sweet's syndrome (acute febrile neutrophilic dermatosis), accompanied by erythematous tender subcutaneous nodules resembling erythema nodosum(EN). The EN-like lesions histologically showed a septal panniculitis with predominantly neutrophilic in-filtrates. The association of Sweet's syndrome with EN seems to be uncommon and only a few cases have been reported until the present. We describe a patient with Sweet's syndrome associated with acute EN.
Adult ; Erythema Nodosum* ; Erythema* ; Humans ; Neutrophils ; Panniculitis ; Sweet Syndrome*

No abstract available.
Humans ; Siblings*

In an outpatient setting, 107 patients were evaluated using a single 24-hour specimen with StoneRisk Diagnostic Profile on a random diet before medication and treatment and updated the classification of nephrolithiasis. For specific subclassification of hypercalciuric calcium(Ca) nephrolithiasis, calcium and sodium restricted diet and sodium cellulose phosphate screening test were underwent. Abnormal urinary biochemistry was classified into one or more of 20 etiologic categories. A single diagnosis was documented in 37(34.6%) patients and the remaining 65.4% had more than one diagnosis. Hypercalciuric Ca nephrolithiasis occurred in 41 (38.3%) patients and specific subclassification of 6 variants was performed. In this study, hypercalciuric Ca nephrolithiasis occurred less frequently in comparison to the incidence of U.S.A. reported by Dr. Pak. Hyperuricosuric Ca nephrolithiasis (HUCN) and gouty diathesis(GD) accounted for 47(43.9%) and 8(7.4%) patients, respectively. Hyperoxaluric Ca nephrolithiasis was in 25(23.4%) patients and all were dietary origin following an oxalate-restricted diet. Hypocitraturic Ca nephrolithiasis was seen in 51(47.6%) patients in idiopathic variant. Hypocitraturia due to RTA and chronic diarrheal syndrome occurred in 1(0.9%) and 2(1.8%) patients. Hypomagnesiuric Ca nephrolithiasis and acquired problem of low urine volume(<1 L/d) were accounted in 3(2.8%) and 13(12.2%) patients, respectively. Infection stones or cystinuria were not detected. No metabolic abnormality was found in 12(11.2%) patients. High sodium take was detected in 60(56.1%) patients, reflecting that Koreans take high sodium containing foods. We think that StoneRisk Diagnostic Profile using a single 24-hour urine specimen is very useful in detecting stone-forming risk factors and providing specific therapeutic guidelines. Additionally, recurrence associated with high cost of medical care can be reduced through adequate diagnostic evaluation as part of the treatment regimen.
Biochemistry ; Calcium ; Cellulose ; Classification ; Cystinuria ; Diagnosis ; Diet ; Humans ; Incidence ; Korea* ; Mass Screening ; Nephrolithiasis* ; Outpatients ; Recurrence ; Risk Factors ; Sodium