BACKGROUND: The skin changes of X-linked recessive ichthyosis are cnused by the deficiency of the enzyme steroid sulfatase, which usually results from deletions of this gene in Caucasian populations. OBJECTIVE AND MEHTODS: To disgnose X-linked recessive ichthyosis and detect its carrier, we have investigated distinctive gene deletion and measured gene dosage of steroid sulfatase gene by southern blot hybridization in Korean patients with X-linked recessive ichthyosis. RESULTS: Patients from 8 of 9 unrelated families exhibited deletions, if the steroid sulfatase gene. Of 6 families showing a family history compatible with X-linked recessive inheritance, One family exhibited a normal pattern of hybridization. All but one family showed deletion of steroid sulfatase gene. All three patients lacking a fami1y history of the disease exhibited gene deletions. The ratio of the steroid sulfatsse specific band density to the Factor VIII specific band density was measured in 8 obligate carriers using a laser densitometer. The average ratio exhibited by the car riers was less than half that of normal women. Conclusian: These results suggest that the X-linked recessive ichth osis patient and its carrier can also be diagnosed and detected by Southern blot hybridization of steroid sulfatase gene in Korea.
Blotting, Southern* ; Diagnosis* ; Factor VIII ; Female ; Gene Deletion ; Gene Dosage ; Humans ; Ichthyosis* ; Korea ; Skin ; Steryl-Sulfatase ; Wills

We report a case of subcutaneous panniculitic T-cell lymphoma (SPTCL) which occurred in a 10-year-old Korean girl. Her disease presented as multiple erythematous subcutaneous nodules on the right cheek, left chest, abdomen, left flank, both calves, and left shin with systemic symptoms. She had a protracted course of multiple erythematous subcutaneous nodules for 2 months often with spiking fever. Histopathologic findings for the subcutaneous nodules revealed lobular panniculitis-like findings composed of atypical small, bland lymphocytes and histiocytes. Characteristically, atypical lymphocytes rimmed individual fat cells in a lace-like pattern and some histiocytes occasionally phagocytosed WBCs. Bone marrow findings revealed increased phagocytic histiocytes with engulfed hematopoietic cell. The immunophenotypic studies showed CD45RO (UCHLl)+, CD20-, CD4-, CD8+ and CD56+ (focal), lysozyme+, CD45 (LCA)+ and EBV-. She received three cycles of high-dose cyclophosphamide, adriamycin, vincristine, prednisolone (CHOP) and methotrexate, intrathecal methotrexate and one cycle of fludarabine, mitoxantrone and dexamethasone (FND) chemotherapy. She died of acute renal failure during multiple chemotherapy.
Abdomen ; Acute Kidney Injury ; Adipocytes ; Bone Marrow ; Cheek ; Child* ; Cyclophosphamide ; Dexamethasone ; Doxorubicin ; Drug Therapy ; Female ; Fever ; Glycogen Storage Disease Type VI ; Histiocytes ; Humans ; Lymphocytes ; Lymphoma, T-Cell* ; Lymphoma, T-Cell, Cutaneous ; Methotrexate ; Mitoxantrone ; Prednisolone ; T-Lymphocytes* ; Thorax ; Vincristine

No abstract available.
Child* ; Humans ; Pneumonia*

The current study was performed to investigate the influence of acidosis on focal cerebral ischemia in view of morphometric assay and neuropathological examination. The acidosis was induced by increment of halothane concentration and by decreasing respiratory rate. The mean pH were 7.423+/-0.012 in control group and 7.184+/-0.038 in acidosis group. Twenty-four hours after MCA occlusion(MCAO), neutral red staining and perfusion fixation was performed. The ischemic area was measured and morphometric analysis was undertaken. In acidosis group, the infarct area was 25.23+/-4.78% of the total cerebral area;in control group, the infarct area was 27.69+/-4.05%. The histopathological findings were examined under light microscopy, in which the field scanning was carried out from the midline by 0.5mm interval at cortical and basal ganglia levels. These results indicated that although there was no satistically significant difference in infarct area between acidosis and control group, increased acidosis aggravated the extent of histopathologic ischemic neuronal damage.
Acidosis* ; Animals ; Basal Ganglia ; Brain Ischemia* ; Halothane ; Hydrogen-Ion Concentration ; Microscopy ; Neurons ; Neutral Red ; Perfusion ; Rats* ; Respiratory Rate

No abstract available.
Tendons*

No abstract available.
Facial Nerve*

PURPOSE: To compare the surgical results of lacrimal surgery for nasolacrimal duct obstruction with and without canalicular stenosis. METHODS: We surveyed 175 eyes which underwent external dacryocystorhinostomy with silicone tube intubation from January 1996 through December 2000 retrospectively. Group 1 included 126 eyes in nasolacrimal duct obstruction without canalicular or commoon canalicular stenosis and group 2 included 47 eyes with canalicular or common canalicular stenosis. We checked the statistical significance with Chi-squre Test. RESULTS: Anatomical success rate was 96.0% (121/126) in group 1 and 85.7% (42/49) in group 2; It was statistically significant (p<0.05). And functional success rate was 91.3% (115/126) in group 1 and 73.5% (36/49) in group 2; it had statistic significance (p<0.05). The surgical success rate depending on the size of sac was not statstically significant in goup 1, but it had statstic significance in total group (p<0.05). In site of stenosis, anatomical and functional success rate ware 93.1% (27/29) and 79.37% (23/29) in common canalicular stenosis. It was higer surgical success rate than the other site, but it had no statistic significance. CONCLUSIONS: The canalicular or common canalicular stenosis is important factor in success of lacrimal surgery. Therefore it is recommendable to open the canalicular stenosis by probing prior to performing dacryocystorhinostomy.
Constriction, Pathologic* ; Dacryocystorhinostomy ; Intubation ; Nasolacrimal Duct ; Retrospective Studies ; Silicones

The penetrating atherosclerotic ulcer of the aorta resulting from the atherosclerosis of the aortic wall can clinically mimic type III aortic dissection, since both diseases produce the ulceration and dissection of aortic wall. However, their imaging features and pathophsiologies are distinctly different from each other. Familial hypercholesterolemia(FH) menifests overt hyperlipidemia that can results in premature atherosclerosis of the aorta as well as the coronary artery. We report a clinically and radiologically evident case of perntrating atherosclerotic ulcer of the descending thoracic aorta which was developed in a 36-year-oldd heterozygote FH male.
Aorta ; Aorta, Thoracic* ; Atherosclerosis ; Coronary Vessels ; Heterozygote* ; Humans ; Hyperlipidemias ; Hyperlipoproteinemia Type II* ; Male ; Ulcer*

A polymerase chain reaction (PCR) method for detection of the pathogenic Yersinia pestis from other Yersinia spp. was developed. Five Y. pestis strains, ninety-two other Yersinia species and twenty-four Enterobacteriaceae strains were collected in Korea and from other countries. Oligonucleotide primers were designed from pathogenic gene of antiphagocytic protein capsule gene (fra 1) and plasminogen activator gene (pla). The 428 bp DNA fragment was amplified from five Y. pestis which contained the fra I gene. No product was amplified from other Yersinia species and other strains of the Enterobacteriaceae. The 439 bp DNA fragment was amplified from three K pestis which contained the pla gene. No product was amplified from two Y. pestis, other Yersinia species and other strains of the Enterobacteriaceae. These showed that the designed primers were specific for detection of Y. pestis among other Yersinia species and Enterobacteriaceae strains. Amplification was successful whether the template was derived from purified DNA or from aliquots of boiled bacterial suspension. The detection limits were 100 pg of DNA and 100 colony forming units (CFU) for fra I and 100 pg DNA and 10 CFU for pla, respectively. Our results prove that the PCR method using specific primers for Y. pestis is a rapid and convenient procedure for routine clinical detection and identification of Y. pestis.
DNA ; DNA Primers ; Enterobacteriaceae ; Korea ; Limit of Detection ; Plasminogen Activators ; Polymerase Chain Reaction* ; Stem Cells ; Yersinia pestis* ; Yersinia*

No abstract available.
Blood Platelets