BACKGROUND: Recently, the molecular pathologic investigation for clonality in lymphomas has been introduced and has gained a role in the diagnosis of lymphomas. In fact, the clonality test using TCRGR phenomenon has been done by Southern blot analysis (SBA) and polymerase chain reaction (PCR) for molecular pathologic diagnosis of T cell lymphomas. However, it is difficult to perform SBA with paraffin embedded specimens or with samples of small skin biopsies. OBJECTIVE: We investigated the efficacy of PCR amplification of TCR gene in paraffin em-bedded cutaneous T cell lymphomas. METHODS: Iii this study, the clonality was assessed by polymerase chain reaction (PCR) analysis of T cell receptor gamma (TCR) gene from the DNA extracts obtained from paraffin em-bedded tissues (PET) of malignant T cells, B cell lymphomas, and benign cutaneous T cell proliferative disorders. Heteroduple-x-analyses were also performed to rule out the false positives. RESULTS: Among the total of 62 cases analyzed, monoclonality was observed in 4 out of 10 mycosis fungoides, 7 out of 9 cutaneous T cell lymphomas excluding mycosis fungoides, 1 out of 3 angiocentric lymphomas, 2 out of 2 lymphomatosis papulosis, 1 out of 7 large plaque parapsoriasis, and 1 out of 2 T cell lymphomas in other organs. No monoclonality was observed in 9 inflammatory cutaneous diseases, 5 small plaque parapsoriasis, 4 cutaneous B cell lymphomas, and 11 B cell lymphomas in lymph nodes. CONCLUSION: The results suggest that the PCR method and heteroduplex analysis used in this study were not only practical but also efficacious for the diagnosis of cutaneous T cell lymphomas using tissues embedded in paraffins.
Biopsy ; Blotting, Southern ; Diagnosis ; DNA ; Gene Rearrangement* ; Genes, T-Cell Receptor ; Heteroduplex Analysis* ; Lymph Nodes ; Lymphoma ; Lymphoma, B-Cell ; Lymphoma, T-Cell ; Lymphoma, T-Cell, Cutaneous ; Mycosis Fungoides ; Paraffin ; Parapsoriasis ; Polymerase Chain Reaction* ; Receptors, Antigen, T-Cell* ; Skin ; T-Lymphocytes

A case of Carney complex in a Korean patient is presented. The patient had the characteristics of Carney complex including skin lesions, positive family history, and multiple myxomas including a superficial angiomyxoma in the perianal area. An extensive genetic analysis revealed a novel mutation in the protein kinase A type I-a regulatory subunit (PRKAR1A) gene, but not in the phosphodiesterase type 11A (PDE11A) gene. This is the first case wherein extensive genetic studies were performed in a patient with Carney complex in Korea.
Carney Complex ; Cyclic AMP-Dependent Protein Kinases ; Humans ; Korea ; Myxoma ; Skin

PURPOSE: To evaluate the CT grading of complications developing after endoscopic sphincterotomy (EST), and their clinical course. MATERIALS AND METHODS: We retrospectively evaluated CT in 19 patients in whom pancreatitis or duodenal perforation developed after EST in 594 patients. The CT grading of pancreatitis was classified as mild, moderate or severe, according to the extent of peripancreatic infiltration; duodenal perforation was classified as mild, moderate or severe grade, according to the extent of fluid collection. We attempted to correlate CT grade with the average duration of hospitalization after EST, treatment method and mortality. RESULTS: Post-EST complications detected on CT were pancreatitis (ten patients, 1.7%) and duodenal perforation (nine patients, 1.5%). In those with pancreatitis, hospitalization after EST lasted an average of nine days in mild cases (n=2), 21 days in moderate (n=1) and 41 days in severe (n=7). Nine of ten patients with pancreatitis were treated conservatively, while the other, whose grade was severe, underwent percutaneous drainage. Eight of these ten recovered; the two who died were severe grade patients, one having been treated conservatively and the other by percutaneous drainage. In patients with duodenal perforation, hospitalization after EST lasted an average of 13 days in mild cases (n=2), 16 days in moderate (n=2) and 37 days in severe (n=5). Four of nine patients with duodenal perforation were treated conservatively, while the other five (severe, four; moderate, one) underwent percutaneous drainage. One patient, graded as severe, expired, but the remaining eight rocovered. Percutaneous drainage was performed mostly in severe grade cases, and among patients thus graded, only three (3/594; 0.5%) died. CONCLUSION: CT is considered useful for predicting the clinical course and prognosis of complications occurring after EST.
Drainage ; Hospitalization ; Humans ; Mortality ; Pancreatitis ; Prognosis ; Retrospective Studies ; Sphincterotomy, Endoscopic*

PURPOSE: Using transmission electron microscopy (TEM), we studied the ultrastructures of rapidly proliferating preretinal membranes of young patients with very extensive ischemic proliferative diabetic retinopathy and diabetes with uncontrollable blood sugar level. METHODS: Nine cases of preretinal membranes were obtained from six eyes of five patients with rapidly progressed proliferative diabetic retinopathy (mean age, 35 years) during vitrectomy. We obtained each preretinal membrane bimanually as one single sheet membrane using intraocular scissors and forceps. Each tissue was fixed in 3% glutaraldehyde in the operating room. All specimens were prepared and studied using TEM. RESULTS: The preretinal membranes were composed of blood vessels and some interstitial cells. The blood vessels within the preretinal membranes varied in developmental stages, from the immature stage to the mature stage. The blood vessels were highly active, in that primitive cells showed a large nucleus and prominent chromatin clumping with abundant cytoplasm. Highly active fibroblast-like cells were also noted. CONCLUSIONS: We observed highly active angiogenesis in preretinal membranes, which rapidly proliferated in cases of severe retinal ischemia in young diabetes patients. This is the first report of such a finding, which may help to explain the poor prognosis of this disease modality.
Blood Glucose ; Blood Vessels ; Chromatin ; Cytoplasm ; Diabetic Retinopathy ; Eye ; Glutaral ; Humans ; Ischemia ; Membranes ; Microscopy, Electron, Transmission ; Operating Rooms ; Prognosis ; Retinaldehyde ; Surgical Instruments ; Vitrectomy

Alpha 1-antitrypsin (AAT) deficiency is a genetic disorder that primarily affects the lungs and liver. While AAT deficiency is one of the most common genetic disorders in the Caucasian population, it is extremely rare in Asians. Here, we report the case of a 36-year-old Korean woman with AAT deficiency who visited the emergency department of our hospital for the treatment of progressive dyspnea that had begun 10 years ago. She had never smoked. Chest computed tomography revealed panlobular emphysema in both lungs, which suggested AAT deficiency. The serum AAT level was 33 mg/dL (reference interval: 90-200 mg/dL). Four exons of the SERPINA1 gene, which is responsible for AAT deficiency, and their flanking regions were analyzed by PCR-direct sequencing. The patient was found to have 1 missense mutation (c.230C>T, p.Ser77Phe; Siiyama) and 1 frameshift mutation (c.1158dupC, p.Glu387ArgfsX14; QOclayton). This is the first Korean case of AAT deficiency confirmed by genetic analysis and the second case of a compound heterozygote of Siiyama and QOclayton, the first case of which was reported from Japan.
Adult ; Asian Continental Ancestry Group/*genetics ; Base Sequence ; Exons ; Female ; Frameshift Mutation ; Heterozygote ; Humans ; Mutation, Missense ; Pedigree ; Pulmonary Emphysema/diagnosis/radiography ; Republic of Korea ; Sequence Analysis, DNA ; Tomography, X-Ray Computed ; alpha 1-Antitrypsin/genetics ; alpha 1-Antitrypsin Deficiency/diagnosis/*genetics/radiography

Bladder urothelial carcinoma typically occurs in individuals in their sixties or seventies: it rarely occurs in persons <20 years old. Moreover, in young patients, bladder urothelial carcinoma lesions are reported to be solitary and nonmuscle invasive, with low malignant potential. However, 13% of lesions in this age group are reported to be noninvasive high-grade papillary urothelial carcinoma but these are extremely rare in children <15 years. There is no specific consensus regarding treatment of bladder urothelial carcinoma in children and adolescent. In particular, method has been suggested for follow-up of high-grade bladder urothelial carcinoma. Therefore we report our experience of one case the, discuss surveillance methods, and provide a brief review of the literature.
Adolescent ; Child* ; Consensus ; Follow-Up Studies ; Humans ; Methods ; Pediatrics ; Urinary Bladder*

PURPOSE: To determine the long-term repeatability of diurnal intraocular pressure (IOP) patterns in healthy Asian subjects without glaucoma. METHODS: Twenty-three eyes in 23 healthy Asian subjects without glaucoma underwent diurnal IOP measurements using Goldmann applanation tonometry every 2 hours from 9 AM to 11 PM during two visits that were 8 weeks apart. To validate repeatability between visits, we calculated intra-class correlation coefficients (ICCs) mean IOP, peak IOP, minimum IOP, and IOP fluctuation at each time point and expressed the results as the difference between peak IOP and minimum IOP or as the standard deviation of all diurnal IOP values in the diurnal IOP curve. RESULTS: IOP repeatability was excellent at all time points, with ICCs ranging from 0.812 to 0.946 (p < 0.001). The 9 AM IOP showed the best repeatability between visits (ICCs, 0.946). Repeatability of mean IOP, peak IOP, and minimum IOP was also excellent (ICCs ranging from 0.899 to 0.929). However, IOP fluctuations showed poor repeatability, with an ICC lower than 0.15. CONCLUSIONS: Long-term repeatability of diurnal IOP patterns in healthy Asian subjects was excellent. These findings suggest that IOP measurements at standardized times of the day will be useful for assessing the effectiveness of glaucoma therapy.
Asian Continental Ancestry Group* ; Circadian Rhythm ; Glaucoma ; Humans ; Intraocular Pressure* ; Manometry

PURPOSE: To evaluate the ultrasonographic and CT findings of hepatosplenic tuberculosis MATERIALS AND METHODS: We retrospectively reviewed the ultrasonographic and CT findings of confirmed hepatosplenic tuberculosis in 12patients. Six were men and six were women ; their average age was 41, and most were in their twenties. Lesions ofthe liver and spleen, as well as associated findings such as abdominal tuberculosis and other organ involvement oftuberculosis were analyzed. RESULTS: There were three cases of hepatic tuberculosis, seven of splenictuberculosis, and two of hepatosplenic involvement of tuberculosis. On the basis of the ultrasonographic and CTfindings, hepatosplenic tuberculosis was classified as one of two patterns : miliary or micronodular, ormacronodular. The micronodular type was more common (9/12 cases) being characterized by innumerable micronodules,and with easy coalescence in the liver and spleen in five of the nine cases. The macronodular type of low densitymass was noted in the other three patients. Splenomegaly was noted in 12 cases and hepatomegaly in ten. Pulmonarytuberculosis-including the miliary type(n=5)-was noted in eight patients. Associated abdominal tuberculosis suchas lymphadenopathy with central low density and peripheral rim enhancement (n=6), tuberculous peritonitis(n=3),highly attenuated ascites(n=6), adrenal tuberculosis(n=1), renal tuberculosis(n=1), ovarian abscess(n=1), psoasabscess(n=1), and systemic tuberculosis such as central nervous system tuberculoma(n=2), cervicallymphadenopathy(n=4) and tuberculous spondylitis(n=1) were noted. CONCLUSION: Ultrasonography and CT werevaluable in the detection and diagnosis of hepatosplenic tuberculosis
Central Nervous System ; Diagnosis ; Female ; Hepatomegaly ; Humans ; Liver ; Lymphatic Diseases ; Male ; Retrospective Studies ; Spleen ; Splenomegaly ; Tuberculosis* ; Tuberculosis, Gastrointestinal ; Tuberculosis, Hepatic ; Ultrasonography

BACKGROUND: The most noted rearrangement identified in acute promyelocytic leukemia (APL) involves the PML and RARa genes, which results in the formation of the PML/RARa gene fusion. In the fluorescence in situ hybridization (FISH) for PML/RARa, the two signals may coincidentally overlap in normal nuclei. We investigated whether a new RARa rearrangement probe could discriminate the false-positive fusion signal of the PML/RARa translocation probe. METHODS: A total of 51 cases, which showed the results from 1% to the borderline level by PML/ RARa FISH, were re-tested with the RARa rearrangement probe. Also, we compared the RARa FISH with the PML/RARa FISH on 16 patients with newly diagnosed APL and performed the RARa FISH on 20 bone marrow specimens without hematologic malignancies in order to set up the cut-off value. RESULTS: The cut-off for the RARa FISH was determined as 1.02%. For patients with newly diagnosed APL, the PML/RARa FISH showed positive signals in 95.3+/-6.5% of the cells and RARa FISH showed positive signals in 97.0+/-7.0% (r=0.83). Of a total of 41 cases consisting of hematological disorders other than APL, five cases showed results equal to or greater than 5% with PML/RARa FISH and one case showed a positive result with RARa FISH. Of 10 follow-up APL cases, seven cases showed results equal to or greater than 5% with the PML/RARa FISH and four cases showed positive results with the RARa FISH. CONCLUSIONS: The cut-off value for the RARa FISH is 1.02% and we consider RARa FISH as the proper method for follow-up of APL.
Bone Marrow ; Fluorescence* ; Follow-Up Studies* ; Gene Fusion ; Hematologic Neoplasms ; Humans ; In Situ Hybridization* ; Leukemia, Promyelocytic, Acute*

No abstract available.
Carcinoma, Endometrioid* ; Uterus*