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

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*

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

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

A 42-year-old Korean female patient with vitiligo universalis had depigmentation therapy with 20 monobenzyl ether of hydroquinone(MBEH). Noticeable lightening was observed 1 month after depigmentation therapy, three months later, complete depigmentation was achieved. As depigmentation induced by MBEH is generally irreversible, MBEH must be reserved for induction of complete depigmentation in severe cases of vitiligo in which the patients themselves do not want repigmentation and who can aecept the consequences of permanent non-tanning skin.
Adult ; Ether* ; Female ; Humans ; Skin ; Vitiligo*

Percutaneous balloon mitral valvuloplasty(PMV) was comparable to surgical commissurotomy in initial and long term follow-up results in selected patients with symptomatic severe mitral stenosis. Transseptal puncture was necessary for antegrade introduction of balloon. In patient with kyphoscoliosis, PMV was relatively contraindicatied due to difficulty and risk of septal puncture. We performed the PMV in a patient with kyphoscoliosis and severe mitral stenosis. The patient was presented with NYHA class III. Echocardiographic evaluation revealed mitral valve area of 0.8cm2 and mean diastolic pressure gradient of 12mmHg. X-ray film of T-L spine showed severe kyphoscoliosis. Transseptal puncture was possible with modification of angle of Brockenbrough needle at the site of 15cm from the needle tip. After transseptal puncture, Inoue balloon was introduced into the LV and gradual ballooning was performed with optimal results. Hemodynamic variable were improved immediately after intervention and mitral valve area was increased from 0.7cm2 to 1.8cm2. Patient was discharged with NYHA class I.
Blood Pressure ; Echocardiography ; Follow-Up Studies ; Hemodynamics ; Humans ; Mitral Valve ; Mitral Valve Stenosis* ; Needles ; Punctures ; Spine ; X-Ray Film

No abstract available.
Meningitis* ; Meningitis, Viral*

PURPOSE: Breast augmentation with cohesive silicone gel implant has been popular but there remains the risk of implant rupture. We investigated the diagnosis and treatment of cohesive gel implant rupture. METHODS: Ten cases of cohesive gel implant rupture between August 2006 and August 2010 in ooo were reviewed in this study. The diagnostic role of Magnetic resonance imaging (MRI) and ultrasonography (US), and operative findings of cases were studied retrospectively. RESULTS: The mean interval from previous surgery was 14.7 months ranging from 3 to 44 months. Nine cases were visited due to abrupt changes in texture of implants and 1 case for revision of capsular contracture. Seven of 10 cases had capsular contracture, simultaneously. We diagnosed the first case by US and MRI but only US was used in the other 9 cases. US showed discontinuity of the implant membrane and multiple parallel echogenic lines within the implant interior (stepladder sign), and MRI showed the presence of multiple curvilinear low-signal-intensity lines seen within the high-signal-intensity silicone gel (linguine sign). All the ruptured gel remained in place within the capsule and did not migrate into the surrounding area. Surgeries were implant replacement in 3, replacement with capsulectomy in 6 with capsular contracture, and subpectoral conversion with capsulectomy and mastopexy in 1 case. CONCLUSION: US without MRI has asatisfactoryrole in the screening method for detection of cohesive silicone gel implant rupture in symptomatic cases. Ruptured implants were removed and replaced easily due to their highly cohesive nature.
Breast ; Breast Implants ; Contracture ; Hypogonadism ; Magnetic Resonance Imaging ; Mass Screening ; Membranes ; Mitochondrial Diseases ; Ophthalmoplegia ; Rupture ; Silicone Gels

OBJECTIVE: The study was performed to evaluate whether thallium reinjection (RI) distinguishes viable from nonviable myocardium among myocardial segments which showed persistent perfusion defect (PD) in patients with acute myocardial infarction (AMI). MATERIALS AND METHODS: We studied 22 patients underwent PTCA after AMI. SPECT was performed in all patients using dipyridamole stress- 4 hour redistribution (RD) followed by 24 hour RI protocols. Dysfunctional segs were classified into 5 groups: 1) normal, 2) reversible, 3) mild to moderate PD, 4) severe PD and 5) reverse redistribution (RR). All patients underwent follow up echocardiography after 4 months to assess regional wall motion (WM) improvement such as a criteria of viable myocardium. RESULTS: A total of 127 segs with abnormal WM was analyzed. Of 74 segs with PD, 17 (23%) showed enhanced uptake after 24 hour RI. Five of 17 segs (29%) with PD that responded to RI with enhanced thallium uptake showed WM improvement. WM improvement were seen in the 24 of 57 segs (42%) not responding to RI. All four segs (100%) with RR that responded to RI showed improvement. WM improvement were not seen in the 5 of 8 segs (71%) with RR not responding to thallium RI. Eleven (73%) of 15 segs with mild-moderate PD after RI showed improvement, but 33% of segs with severe PD after RI did not showed improvement. Segs with mild-moderate PD after RI and fill in after RI showed improvement in comparison to segs with severe PD after RI(p<0.05). CONCLUSIONS: These data indicate that because only small proportion of PD showed further perfusion improvement after RI and predictive value by the uptake after RI was low, there was limited role of RI after myocardial infarction. Usefulness of RI could be found in segs showing RR responding to RI in AMI reflects viable myocardium.
Dipyridamole ; Echocardiography ; Follow-Up Studies ; Humans ; Myocardial Infarction* ; Myocardium ; Perfusion ; Thallium ; Tomography, Emission-Computed, Single-Photon