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*

We experienced one case of severe pituitary dwarfism in a 10 years old female girl. Magnetic resonance image (MRI) revealed transection of the pituitary stalk stalk with the formation of high intensity ectopic posterior lobe located at the median eminence and agenesis of an anterior lobe of pituitary gland. The serum growth Hormone (GH) response to clonidine and L-dopa revealed severe GH deficiency. The patient had responses to TRH, normal TSH and partial prolactin response, respectively. There was not response LH and FSH to GnRH. The morning cortisol concentration and serum T4 concentration were decreased below the normal range. These findings and no hyperprolactinemia suggested the presence of a vascular connection between the pituitary gland and hypothalamus, which is not visible on MRI. Sofar, the primary cause of idiopathic pituitary dwarfism in many patients is injury to hypothalamus by perinatal insults. In this patient, there was no history of perinatal insults and postnatal head trauma but transection of the pituitary stalk. We report a case of severe pituitary dwarfism due to agenesis with brief review of related litereature.
Child ; Clonidine ; Craniocerebral Trauma ; Dwarfism, Pituitary* ; Female ; Gonadotropin-Releasing Hormone ; Growth Hormone ; Humans ; Hydrocortisone ; Hyperprolactinemia ; Hypothalamus ; Levodopa ; Magnetic Resonance Imaging ; Median Eminence ; Pituitary Gland* ; Pituitary Gland, Anterior* ; Prolactin ; Reference Values

Lipid particles, which can be synthesized in the liver or absorbed through the terminal ileum, are indispensable for maintaining homeostasis. Inadequate life styles together with certain types of genetic background can induce and aggravate the condition of dyslipidemia. The personal status of inflammation, which is reflected by the serum C-reactive protein level, and the status of insulin resistance are considered as emerging risks for cardiovascular diseases. Therefore, together with aggressive management of correctable major risks, maintaining ideal lifestyles may be helpful to prevent the event of cardiovascular diseases. The most important goal of managing dyslipidemic conditions is to reach an ideal level of lipid profile, and aggressive drug management can be tried where indicated.
C-Reactive Protein ; Cardiovascular Diseases ; Dyslipidemias ; Homeostasis ; Humans ; Ileum ; Inflammation ; Insulin Resistance ; Life Style ; Liver

No abstract available.
Durapatite* ; Dust* ; Rabbits* ; Transplants*

No abstract available.
Blood Platelets