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 herein two cases of pachyonychia congenita in 19-month-old and 7-year-old girls. In addition to severely deformed nails, both had white plaques on the tongue and keratotic papules on the elbows and knees. In the 19-month-old girl, her father showed deformity of the nails and severe hyperkeratosis of the palms and soles, The family history was normal in other case.
Child ; Congenital Abnormalities ; Elbow ; Fathers ; Female ; Humans ; Infant ; Knee ; Nails, Malformed* ; Pachyonychia Congenita* ; Tongue

Fibrovascular polyp of the esophagus is a rare and benign pedunculated intraluminal tumor. The tumor consists of varying amount of vascular fibrous and adipose tissue that arises in the submucosa and is covered by squamous epithelium. We report the typical radiographic, CTand MR findings of a case of giant fibrovascular polyp of the esophagus.
Adipose Tissue ; Epithelium ; Esophagus* ; Polyps*

Almost all cases of acute methanol intoxication result from ingestion. Absorption of methanol following oral administration is rapid and peak concentration occurs within 30-60 min. Foromic acid converted metabolites of methanol are responsible for its toxic effect. Methanol poisoning typically induces nausea, vomiting, abdominal pain, and mild central nervous system depression. Then there is a latent period lasting, followed by an uncompensated metabolic acidosis and visual dysfunction, depending on the dose of methanol ingested. Here we report on three patients who were victims of methanol intoxication due to ingestion of windshield washer fluid, which was misidentified as an alcoholic beverage. One patient had a mild form, which included abdominal discomfort, another patient had a moderate case, which included nausea, vomiting, and acidosis, and the other patient had severe acidosis and altered mentality and visual dysfunction. Except one case of visual dysfunction, all three patients recovered successfully following medical treatment and hemodialysis.
Abdominal Pain ; Absorption ; Acidosis ; Administration, Oral ; Alcoholic Beverages ; Alcoholics ; Central Nervous System ; Depression ; Eating ; Humans ; Methanol ; Nausea ; Renal Dialysis ; Vomiting

BACKGROUND/AIMS: Viral breakthrough has been considered a major limitation of lamivudine in the treatment of hepatitis B virus related chronic liver disease. Its clinical meaning has not been thoroughly assessed. METHODS: 64 patients who showed viral breakthrough during lamivudine treatment were retrospectively reviewed. We evaluated the rate of HBeAg seroconversion and hepatic decompensation after viral breakthrough. RESULTS: After viral breakthrough, serum alanine transaminase (ALT) elevation more than 1.2X upper limit of normal (ULN) was noticed in 40 patients (62.5%). Acute flare (serum ALT elevation >X5 ULN, or serum bilirubin >3 mg/dL) occured in 15 patients (23.4%). During the period of follow up (15.0 +/- 9.7 months; range, 0-31 months) since viral breakthrough, decreased serum HBV-DNA level to below the detection limit and serum ALT normalization was seen in 15 patients (23.4%). HBeAg seroconversion was noticed in 7 (13.7%) of a total of 51 HBeAg positive patients at base line; in 4 (15.4%) of 26 patients with non-hepatic failure (chronic hepatitis or Child-Pugh class A liver cirrhosis) at base line; and in 2 (40.0%) of 5 patients with non-hepatic failure at base line and acute flare after viral breakthrough. During this period, terminal hepatic decompensation (Child-Pugh class C) or death was noticed in 9 (90.0%) of 10 patients who had hepatic decompensation (Child-Pugh class B or C) at baseline and acute flare after viral breakthrough. CONCLUSIONS: Acute flare after viral breakthrough seemed to continue during HBeAg seroconversion and rarely developed into terminal hepatic decompensation or death in patients with non-hepatic decompensation at baseline. Its incidence is not only high but lethal to most patients with hepatic decompensation at baseline.
Acute Disease ; Adult ; Aged ; Antiviral Agents/*therapeutic use ; DNA, Viral/blood ; English Abstract ; Female ; Hepatitis B e Antigens/blood ; Hepatitis B virus/genetics/isolation & purification ; Hepatitis B, Chronic/complications/drug therapy/*virology ; Humans ; Lamivudine/*therapeutic use ; Male ; Middle Aged ; Reverse Transcriptase Inhibitors/*therapeutic use

Autoimmune insulin syndrome is characterized by insulin autoantibody, hyperinsulinemia, and fasting hypoglycemia without previous insulin immunization. This syndrome shows discordant levels between immunoreactive insulin and C-peptide. Negative results of an anatomic study of the pancreas and an inability to reproduce hypoglycemia during a prolonged fast may be helpful in excluding insulinoma. Symptomatic hypoglycemia usually develops during an oral glucose tolerance test. This syndrome is a self-limited disorder. Recently, we experienced one case that developed symptomatic hypoglycemia during both the fasting & oral glucose tolerance test, and another that developed symptomatic hypoglycemia during the oral glucose tolerance test but not the fasting test. Hereby, we present these cases with a review of the literature.
C-Peptide ; Fasting ; Glucose Tolerance Test ; Hyperinsulinism ; Hypoglycemia* ; Immunization ; Insulin* ; Insulinoma ; Pancreas

PURPOSE: HLA (human leukocyte antigen)-class I genes are highly polymorphic, play many roles in organ and bone marrow transplantation. HLA-B is the most polymorphic class I locus with 414 alleles. HLA-class I typing, which is based on serologic method, has been used until recently. The development of molecular biological techniques make it possible to define the genotypes of HLA genes. METHODS: Analyses of HLA-B genotyping on 1,000 UCB (Umbilical Cord Blood) samples which were considered to be HLA-B homozygote or blank were performed by ARMS-PCR (Amplification Refractory Mutation System-PCR) method and direct sequencing. RESULTS: We could identify HLA-B*5001 which was known to be absent in Koreans. CONCLUSION: It is strongly suggested that HLA-B homozygote should be confirmed to the DNA level especially in cases of donor selection for the unrelated bone marrow transplantation.
Alleles ; Bone Marrow Transplantation ; DNA ; Donor Selection ; Fetal Blood ; Genotype ; HLA-B Antigens ; Homozygote ; Leukocytes

Malignant rhabdoid tumors were first described in 1978 by Beckwith and Palmer as a rare variant of Wilms' tumors with a "rhabdomyosarcomatoid" pattern and a particularly poor prognosis. Week reclassified this disease as a distinct disease in 1989 and thereafter, there have been several reports about malignant rhabdoid tumor that occurred in various organs, including the colon. The histologic characteristics of rhabdoid tumor are noncohesive or loosely cohesive cells with high cellularity, an eccentric large nucleus and eosinophilic cytoplasm, and the cytoplasm is usually positive for vimentin and it contain hyaline inclusions. On immunohistochemical staining, the cells are usually positive for vimentin and cytokeratin and they are negative for desmin. This tumor progresses rapidly and it has a very poor prognosis, but survival is better if there is no lymphatic or distant metastasis. We experienced a patient who suffered with undifferentiated adenocarcinoma with rhabdoid features in the ascending colon.
Adenocarcinoma ; Colon ; Colon, Ascending ; Colonic Neoplasms ; Cytoplasm ; Desmin ; Eosinophils ; Humans ; Hyalin ; Keratins ; Neoplasm Metastasis ; Prognosis ; Rhabdoid Tumor ; Vimentin ; Wilms Tumor

Dilated coronary sinus is often visualized on echocardiography in patients with right sided heart disease as well as with persistent left superior vena cava. We observed a case of markedly dilated coronay sinus caused by persistent left superior vena cava and severe tricuspid regurgitation. The diagnosis was made by transthoracic echocardiography with intravenous injection of agitated saline into both arm.
Arm ; Coronary Sinus* ; Diagnosis ; Dihydroergotamine ; Echocardiography ; Heart Diseases ; Humans ; Injections, Intravenous ; Tricuspid Valve Insufficiency* ; Vena Cava, Superior*

BACKGROUND/AIMS: The purpose of this study was to assess the clinical characteristics, recurrence features, and treatment results of patients with autoimmune pancreatitis (AIP) and to determine the clinical predictive factors associated with recurrence. METHODS: We analyzed the clinical, radiologic, laboratory, and recurrence features. We also evaluated treatment methods and outcomes, and clinical predictive factors associated with recurrence in 55 patients with AIP. RESULTS: AIP may be misdiagnosed as pancreatic cancer due to the following characteristic features: (1) clinical findings similar to those of pancreatic cancer including weight loss (60.0%), obstructive jaundice (54.5%), and recent-onset diabetes (29.1%) as the major symptoms; (2) a preponderance in elderly men (mean, 57.7 years old; male, 81.8%); (3) pancreatic mass in computer tomography (21.8%). Serum IgG/IgG4 was elevated in 67.4% of cases. Other organ involvements were noted in 43.6% of cases. All patients (52/52) received steroid treatment have shown complete resolution or marked improvement in the presenting manifestations for which steroids were instituted. After median observation period of 32.8 (1-106) months, 9 patients (3-year cumulative recurrence rate, 20.0%) recurred. There was no significant clinical predictive factor for the recurrence of AIP. However, elevated serum IgG4 preceded recurrence in all patients whose serum IgG4 levels were checked at recurrence. CONCLUSIONS: It is reasonable to understand AIP as a pancreatic lesion reflecting systemic disease, so called 'IgG4-related fibroinflammatory disease'. Steroid trial may be a practical diagnostic tool and a therapeutic one. Recurrence was not uncommon after the steroid treatment and serum IgG4 could be a monitoring marker for the recurrence in clinical practice.
Adolescent ; Adult ; Aged ; Anti-Inflammatory Agents/therapeutic use ; Autoimmune Diseases/*diagnosis/therapy ; Cholangiopancreatography, Endoscopic Retrograde ; Female ; Humans ; Immunoglobulin G/blood ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Pancreatectomy ; Pancreatitis, Chronic/*diagnosis/pathology/therapy ; Predictive Value of Tests ; Prednisolone/therapeutic use ; Recurrence ; Tomography, X-Ray Computed ; Treatment Outcome