We experienced a case of venous hemangioma occuring on the inner aspect of right forearm of 40-year-old woman. The skin lesion was slight tender, pea sized, dark brown surfaced, subcutaneous mass. The entire dermis was filled with numerous coiled thick walled vessels surrounded by fibrous stroma on the histopathologic examination. The wall, lined by a single layer of endothelial cells, lacked elastic fibers on the specimen of Verhoeff-Van Gieson and Massons trichrotne stains.
Adult ; Coloring Agents ; Dermis ; Elastic Tissue ; Endothelial Cells ; Female ; Forearm ; Hemangioma* ; Humans ; Peas ; Skin

No abstract available.
Humans ; Interferon-alpha* ; Interferons* ; Melanoma* ; Ulcer*

Wilson disease gene (WND) locus is presumed to be located in chromosome 13q. There are studies on the clinical heterogeneities and variations between ethnic groups in Europe, North America, and the Middle East and it requires the study of another ethnic group, especially Asian population for the confirmation. This study was an anlysis of restriction fragment length polymorphism of the Wilson's disease with the probes on D13S26, D13S31, and D13S59, The subject was 34 persons of seven families. The serum ceruloplasmin and the serum copper were also measured. The results were as follows: 1) The Wilson disease gene was also presumed to be located in chromosome 13q area in Korean patients and D13S25, D13S26, D13S31 and D13S59 gene loci were also linked to Wilson disease of Koreans. The lod score of D13S25 was 1.45 (theta =0: D13S59, 1.13 (theta =0): D13S26, 247 (theta =0). 2) Three siblings of Wilson disease patients were diagnosed as carriers by the analysis of restriction fragment length polymorphism. 3) In Wilson disease patients, the serum ceruloplasmin and copper was 6.8+/1.8dl, and 64.7+/-38.6microg/dl respectively and it is 18.8+/-6.1 mg/dl and 65.3+/-10.6microg/dl respectively in heterozygotes.
Asian Continental Ancestry Group ; Ceruloplasmin ; Copper ; Ethnic Groups ; Europe ; Genetic Linkage* ; Hepatolenticular Degeneration* ; Heterozygote ; Humans ; Lod Score ; Middle East ; North America ; Polymorphism, Restriction Fragment Length ; Siblings

No abstract available.
Choledochal Cyst* ; Cholestasis*

BACKGROUND AND OBJECTIVE: Transient global amnesia(TGA) is a neurological syndrome affecting preferentially middle-aged or elderly people and characterized by sudden onset of transient impairment of antegrade amnesia with variably retrograde amnesia. TGA was defined over 30 years ago, but the etiology remain unclear. Several mechanisms have been proposed, including arterial thromboembolic ischemic attacks in both posterior cerebral artery territories, epilepsy, and migraine. Although many studies have reported TGA, only a few reported cerebral perfusion studies using SPECT because of the brief duration of the episode. Technetium-99m-ethyl cysteinate dimmer(ECD) is superior to sensitivity of lesion detection and lesion to normal contrast, probably due to lower back diffusion from the brain to the blood and its excellent radiochemical stability. So we evaluate pathophysiologic mechanism of TGA by using 99mTC-ECD SPECT with or without acetazolamide(ACZ) stress. METHODS: We evaluated six patients with transient global amnesia, four women and two men, age ranges 56 to 78 years, mean 62.2 years. Measurements of CBF and vascular reserve using 99mTC-ECD with or without ACD stress were performed during or after TGA episode. RESULTS: One patient, who was evaluated in TGA episode showed that regional cerebral blood flow was decreased in both anteroinferior frontal, both temporal, right thalamus, both inferior parietal and left parietal region with impaired vascular reserve in left inferior temporal and right thalamus. Others, who were evaluated more than 6days in TGA episode showed that regional cerebral blood flow was decreased in left temporal (4), both temporal region (1), left thalamus (2) and both basal ganglia (1) with preserved vascular reserve except one, showed impaired vascular reserve in left thalamus. CONCLUSION: This result show that severe hypoperfusion of bilateral temporal region and impaired vascular reserve in left temporal region in TGA episode. Other patients who were recovered from TGA showed hypoperfusion of left temporal region and preserved vascular reserve. 99mTc-ECD with acetazolamide SEPCT that sensitively detects localized impaired cerebraovascular reserve should help elucidate these processes. But further study with more cases is necessary for evaluation of pathophysiology of TGA.
Acetazolamide ; Aged ; Amnesia ; Amnesia, Retrograde ; Amnesia, Transient Global* ; Basal Ganglia ; Brain ; Diffusion ; Epilepsy ; Female ; Humans ; Male ; Migraine Disorders ; Perfusion ; Posterior Cerebral Artery ; Rabeprazole ; Technetium* ; Thalamus ; Tomography, Emission-Computed, Single-Photon*

This study is based on 155 patients of congenital me colon. For the diagnosis, 93 cases were histologically proven and the remaining 63 cases were diagnosed on clinical basis including barium enema or surgical gross findings. On histologic examination, 80 cases(86%) showed typical features of absence of ganglion cell in the myenteric plexus and the 13 cases(14%) had atypical features which were segmental absence Of ganglion cell in one case. There we 127 males(82%) and 28 females(18%). The age at diagnosis was younger than 30 days in 87 cases(56%), I month to 1 year in 39 cases(25%) and older than I year in 29 cases(18%). The levels of aganglionosis were variable: short segment (rectosigmoid) in 134 cases(86%), intermediate segment (more proximal colon) in 14 cases(100%). and 6 cases(4%) had total aganglionosis. Common clinical presentations were abdominal distention, delayed meconium passage or bilious vomiting in neonate, and chronic constipation in infancy or childhood. Following initial colostomy or ileostomy, a definitive procedure was performed in 151 cases(Duhamel type in 150 cases; Soave type in 2 cases; Swenson type in 3 cases). Frequently associated problems after definitive procedure were persistent constipation(ll%) due to septum formation, fecaloma, remnant aganglionic segment and rectal stenosis. Overall mortality rate was 4%, and increased mortality was associated with enterocolitis(14%) which was the most frequent cause of death. The follow-up study longer than 3 months was available in 138 patients who underwent a definitive procedure(mean 2 year 11 months). Seventy-three cases(53%) had normal bowel function, 38cases(27.5%) had occasionally used enema or stool softners, and 27 cases(19.5%) had severe constipation or soiling. The bowel habit improved with time, and were considered normal in 60% of patients after follow-up more than 3 years. The results of definitive procedures for congenital megacolon including Duhamel operation was satisfactory, and long-term follow-up appeared an important and critical component of patients'care.
Child ; Male ; Female ; Infant, Newborn ; Humans ; Mortality ; Follow-Up Studies

PURPOSE:The prevalence of childhood obesity has been increased rapidly, associated with high morbidity of dyslipidemia, cardiovascular risk factors and insulin resistance/hyperinsulinemia. Hyperinsulinemia in obese children may depend on either increased insulin secretion or decreased insulin clearance. We investigate whether insulin secretion and clearance are different between obese and normal weight children. METHODS:The body mass index(BMI), fasting serum glucose, insulin and C-peptide levels were measured in 101 children(52 obese children and 49 non-obese controls) in Ansan area, from 6 to 14 years old. Fasting serum C-peptide/insulin ratio, insulin/glucose ratio, homeostasis model assessment(HOMA) were calculated and compared between obese and control group. RESULTS:The fasting serum insulin and C-peptide levels were significantly higher in obese group than in controls. The C-peptide/insulin ratio was significantly lower and insulin/glucose ratio was significantly higher in obese group than in controls. There were positive correlations between BMI and fasting serum insulin level, fasting insulin/glucose ratio and HOMA. The prevalence of hyperinsulinemia is higher in obese adolescents than in controls. CONCLUSION: Our findings suggest that increased insulin secretion and decreased insulin clearance may contribute to hyperinsulinemia in obese children.
Adolescent ; Blood Glucose* ; C-Peptide* ; Child* ; Dyslipidemias ; Fasting* ; Gyeonggi-do ; Homeostasis ; Humans ; Hyperinsulinism ; Insulin* ; Obesity* ; Pediatric Obesity ; Prevalence ; Risk Factors

BACKGROUND: Wilson disease (WD) is an autosomal recessive disorder of copper transport and characterized by degenerative changes in the brain, liver dysfunction, and Kayser-Fleischer rings due to toxic accumulation of copper. Since the identification of Wilson disease gene (ATP7B), more than 80 mutations have been detected among the different ethnic groups. METHODS: Twenty three children with Wilson disease were included in this study. They were all diagnosed by low serum ceruloplasmin and increased 24 hour urinary copper excretion with characteristic clinical findings. We analysed WD gene mutation by assessing the nucleotide sequence of exon 7, 8, 9 and 10 including intron-exon boundaries of ATP7B gene from genomic DNA. RESULTS: Arg778Leu mutation was identified in 16 WD patients; three were homozygous and 13 were heterozygous for this mutation. Of the 46 alleles, 19 alleles had a Arg778Leu mutation (19/46=41%). Homozygote patients had neurologic forms of WD. Arg778Leu mutation was not found among 50 normal healthy persons. CONCLUSION: Arg778Leu mutation is a common mutation in Korean WD gene. Arg778Leu mutation screening might be used as a useful supplementary diagnostic test in some patients to confirm Wilson disease in Korea.
Alleles ; Base Sequence ; Brain ; Ceruloplasmin ; Child* ; Copper ; Diagnostic Tests, Routine ; DNA ; Ethnic Groups ; Exons ; Hepatolenticular Degeneration* ; Homozygote ; Humans ; Korea ; Liver Diseases ; Mass Screening

BACKGROUND: As co-factors of metalloenzymes, zinc(Zn) and copper(Cu) have a considerable effect on nearly all the metabolism that takes place in organs of the body, including the skin. OBJECTIVE: The purpose of this study was to evaluate zinc and copper status in alopecia areata patients. METHODS: We measured serum levels of zinc and copper in 30 cases of alopecia areata patients and 10 normal individuals by atomic absorption spectrometry. Furthermore, we studied the significance of the ratio between serum levels of the two metals. RESULTS: The serum levels of zinc were significantly lower in alopecia areata patients than in healthy controls. The serum levels of copper were slightly lower in alopecia areata patients than in healthy controls. Ratios of Cu/Zn were slightly higher in alopecia areata patients than in healthy controls. But their differences were not statistically significant. CONCLUSION: We suggest that a serum Zn assay should be included in the chemical assessment of patients with alopecia areata.
Absorption ; Alopecia Areata* ; Alopecia* ; Copper* ; Humans ; Metabolism ; Metals ; Skin ; Spectrum Analysis ; Zinc*

Chronic idiopathic intestinal pseudo-obstruction syndrome is a clinical condition induced by an impaired function of intestinal motility. Although its clinical symptoms are those of intestinal obstruction, mechanical obstruction of the intestine cannot be found by vigorous studies, even by operative exploration. We have experienced nine cases of chronic idiopathic intestinal pseudo-obstruction syndrome. It will help in diagnosis and treatment of the pseudo-obstruction to present the patients with these syndromes. In all cases severely delayed intestinal transit times were noted in radiological gastrointestinal studies without evidence of mechanical obstruction. The most frequent tentative diagnoses were congenital megacolons. But all of the patients showed the presence of ganglion cells in the intestinal wall. Histological abnormalities of the muscle layer were found in three patients. We could not resolve the symptoms by the surgical decompression of the intestine (such as colostomy, ileostomy etc.). But the symptoms were improved after total colectomy in a patient whose main affected site was confined to the colon. The megacystis was the most frequent combined anomaly. All patients had been improved with NPO and total parenteral nutrition therapies were inevitable. The drugs which facilitate the intestinal activities such as cisapride could not resolve the symptoms of obstruction. Three patients were died with the complications of total parenteral nutrition, and four patients improved clinically. Early diagnosis and proper management will reduce the mortality and morbidity.
Child ; Cisapride ; Colectomy ; Colon ; Colostomy ; Decompression, Surgical ; Diagnosis ; Early Diagnosis ; Ganglion Cysts ; Gastrointestinal Motility ; Hirschsprung Disease ; Humans ; Ileostomy ; Intestinal Obstruction ; Intestinal Pseudo-Obstruction* ; Intestines ; Mortality ; Parenteral Nutrition, Total