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

No abstract available.
Free Tissue Flaps* ; Head* ; Neck*

Since the introduction of percutaneous mitral valvotomy(PMV) in 1984, PMV was an effecive alternative to surgical commissurotomy in selected patients with severe mitral stenosis. Also PMV was an excellent palliative strategy in such patients who were high risk for operative management or longterm anticoagulation was not feasible. We performed PMV in a patient with very tight mitral stenosis and severe pulmonary hypertension under the general anesthesia because the patient was anticipated to be uncooperative due to mental problem, who was diagnosed as schizophrenia 16 years ago. Robinol was used for premedication and i.v fentanyl was used for maintenance of anesthesia. Inoue balloon was introduced into the LV and gradual ballooning was performed with favorable results. Total anesthesia time and interval from internal jugular vein puncture to the completion of valvuloplasty were 1 hour 45 min and 40 minutes respectively. Hemodynamic variables were improved immediately after intervention and mitral valve area was increased from 0.5cm2 to 1.3cm2.
Anesthesia ; Anesthesia, General* ; Fentanyl ; Hemodynamics ; Humans ; Hypertension, Pulmonary ; Jugular Veins ; Mitral Valve ; Mitral Valve Stenosis* ; Premedication ; Punctures ; Schizophrenia*

Suction-assisted lipoplasty is now flrequently-performed pre cedure in plastic surgery, but it has several drawback including bleeding contour irregularity due to its traumatic nature. The recently introduced ultrasound-assisted lipoplasty (UAL) technique uses ultrasonic energy which has specificity in lower density tissue like fat tissue. Therefore, UAL can minimize these compli cations. We performed UAL in 21 patients from OCt. 1988 to Jun 1999. There were 17 females and 4 males, and patient age ranged from 18 to 52 years(average 40 years). A total of 58 areas were operated on for an averge of 28 areas per patient. We used a fivestage technique consisting of tumescent infiltration, ultrasonund treatment, emulsion suction, endermology, and postperative pressuregarment application. Total volume (fluid and fat) removed ranged from 200 to 4,050 cc(averge 1,750 cc) per patient and the lipocrit within the aspirate was 4-8%, which was significantly lower compared with traditional liposuction Residual emulsion was evacuated by endermology and pressuregarment was applied to all patients for postoperative 2-3 months. Pestoperative complications were seroma, induration, and paresthesia, but all these problems resolved spontaneously within a month. One patient required secondary UAL for correction of excess fat at the medial knee. We believe that UAL is a safe and excellent technology in liposuction because of reduced surgical bleeding and good contral of body contour.
Bezafibrate ; Cations ; Female ; Hemorrhage ; Humans ; Knee ; Lipectomy ; Male ; Paresthesia ; Sensitivity and Specificity ; Seroma ; Suction ; Surgery, Plastic ; Ultrasonics

Total 8,341 pregnant women who visited Obstetric Clinic Cheil General Hospital from Jaunary 1991 to July 1992 were screened for HBsAg. Sixty five women with positive HBsAg who delivered healthy babies during that period and their infants are included in the study. HBsAg, Anti-HBs, Anti-HBc, HBeAg and Anti-HBe were tested by radioimmunoassay and hepatitis B virus DNA were studied by polymerase chain reaction technique in both mothers' and babies serum. The results were as follow: 1) Among 8,341 pregnant women who were screened for HBsAg 374 were asymptomatic carriers(4.5%). 2) The newborn babies born to 65 mothers who were positive HBsAg showed HBsAg in 4.6%, HBeAg 75.0%, anti-HBc 98.4% and hepatitis B virus DNA in 26.2%. 3) It showed discordance of HBeAg/anti-HBe, with hepatitis B virus DNA in newborn infants. 4) Follow up study at 8~20 months showed HBeAg and hepatitis B virus DNA in 2 infants out of 20.
DNA ; Female ; Follow-Up Studies ; Hepatitis B e Antigens ; Hepatitis B Surface Antigens ; Hepatitis B virus* ; Hepatitis B* ; Hepatitis* ; Hospitals, General ; Humans ; Infant ; Infant, Newborn ; Mothers* ; Polymerase Chain Reaction* ; Pregnant Women ; Radioimmunoassay

Adenosine deaminase(ADA) is an enzyme capable of catalysing the pathway from adenosine to inosine. Previous studies have shown that this enzyme may be useful in recognition of a tubeculous etiology of pleural, peritoneal, or meningeal effusions. ADA activity was studied in 42 patients with large amount of pericardial effusion. Patients were subdivided into the following four group : (A) 15 cases of tuberculous effusions : (B) 4 with pyogenic effusions : (C) 15 with idiopathic effusions : (D) 9 with malignant effusions. The results were as follows ; 1) The mean ADA activities assessed in pericardial effusions were 134.0+/-77.6U/L in group A : 93.8+/-43.8 in group B : 38.3+/-23.2 in group C : 27.3+/-20.8 in group D. Comparing the level achieved in group A with all others, the difference is significant at the P<0.001 level. 2) The mean ADA activities assessed in sera were 50.7+/-57.2 U/L in group A : 63.5+/-24.1 in group B : 25.9+/-12.0 in group C : 14.0+/-7.5 in group D. Comparing the level achieved in group A with all others, there is no significant difference. 3) Specificity(0.87) and sensitivity(0.93) of the test for the differential diagnosis of patients with tuberculous effusion from those with idiopathic effusion is high, when a value of more than 50 U/L is considered. In conclusion, the assessment of ADA in pericardial effusions is of great value in the diagnosis of tuberculous pericarditis.
Adenosine Deaminase* ; Adenosine* ; Diagnosis ; Diagnosis, Differential ; Humans ; Inosine ; Pericardial Effusion* ; Pericarditis, Tuberculous

No abstract available.
Meningitis* ; Meningitis, Viral*

A case of clear cell adenocarcinoma arising in the female urinary bladder, which is accompanied by endometriosis of the urinary bladder and the uterus, is reported. The carcinoma protruded into the vesical lumen as a fungating mass, and had a tubulocyotic pattern. The tumor cell had intracytoplasmic glycogen and electron microscopically short microvilli on their surface, resembling clear cell acenocarcinoma of the female genital tract including ovary. This is the fourth case report of clear cell adenocarcinoma complicating vesical endometriosis, and may support the view that clear cell carcinome arises from endometriosis which, in turn, from the Mullerian remnant.
Female ; Humans ; Adenocarcinoma

A case of clear cell adenocarcinoma arising in the female urinary bladder, which is accompanied by endometriosis of the urinary bladder and the uterus, is reported. The carcinoma protruded into the vesical lumen as a fungating mass, and had a tubulocyotic pattern. The tumor cell had intracytoplasmic glycogen and electron microscopically short microvilli on their surface, resembling clear cell acenocarcinoma of the female genital tract including ovary. This is the fourth case report of clear cell adenocarcinoma complicating vesical endometriosis, and may support the view that clear cell carcinome arises from endometriosis which, in turn, from the Mullerian remnant.
Female ; Humans ; Adenocarcinoma

BACKGROUND: The clinical significance of mean platelet volume (MPV), platelet distribution width (PDW) and megathrombocyte index (MTI) is not clear. METHODS: We examined platelet indices in 900 cases of patients with hematologic disorders and compared them with those of the control to predict thrombopoiesis in the bone marrow. MPV and PDW were measured by Coulter Counter STKS (U.S.A). We calculated megathrombocyte index (MTI, the percentage of megathrombocytes) in the peripheral blood film using ocular micrometer, and examined megakaryocyte number in the bone marrow aspirates. RESULTS: In patients with acute leukemia, and aplastic anemia, MPV and MTI were lower than the control but PDW was higher. In myeloproliferative disorders, all platelet indices were higher, and in ITP (idiopathic thrombocytopenic purpura), MPV and MTI were higher but PDW was not significantly different. MTI was higher in complete remission than initial acute leukemia. All platelet indices were not significantly different between pre- and post-BMT in AML. But in aplastic anemia, MPV and MTI were higher in post-BMT than pre-BMT. MTI was a better index to screen than MPV in the decreased megakaryocyte group, but in increased megakaryocyte group, there was no difference in screening ability between MPV and MTI. CONCLUSIONS: The platelet indices in peripheral blood may be good markers for predicting thrombopoiesis in hematologic disorders and in post chemotherapy of acute leukemia. In addition, after BMT of aplastic anemia, these indices could be used as valuable markers of engraftment.
Anemia, Aplastic ; Blood Platelets* ; Bone Marrow ; Drug Therapy ; Humans ; Leukemia ; Mass Screening ; Mean Platelet Volume ; Megakaryocytes ; Myeloproliferative Disorders ; Thrombopoiesis