No abstract available.
Choledochal Cyst* ; Cholestasis*

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

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

BACKGROUND: The cornified cell envelope (CE) is a unique structure found in the terminal differentiation of the skin. The precursor proteins of the CE are composed of many candidate structural proteins, among which invalucrin and filaggrin are important ones to participate in the complicated process of forming, the complex structure. OBJECTIVE: The purpose of this study was to evaluate the usefulness of expression of involucrin and filaggrin as markers of terminal differentiation in various skin disorders including tumors. METHODS: Immunohistochemical studies were performed in the formalin-fixed, paraffin-embedded skin samples of non-tumors (41 cases) and tumors (43 cases).
Skin*

A clinical observation was performed on 2,122 cases of premature infants who were admitted to Ilsin Christian during the past 5 years from Jan. 1986 to Dec. 1990. The results were as follows; 1) The incidence of prematurity was 5.7%, overall mortality rate was 15.8%, and the sex ratio of male to female was 1.5:1. 2) Concomitant maternal diseases were premature rupture of membrane 457 cases (21.5%), preeclampsia & eclampsia 424 cases (19.9%), multiple pregnancy 250 cases (11.7%) etc, in the order of frequency. 3) Prematurity was most prevalent among multipara over 3. 4) Incidence of prematurity according to maternal age was frequent in woman more than 35 years old. 5) Mortality of prematurity was higher inversely propotional to birth weight & gestational age. 6) Main causes of death were IRDS 45 cases (43%), congenital anomaly 72 cases (21.6%), sepsis 31 cases (9.3%), and unknown 84 cases (25.0%). 7) Clinical problems were hyperbilirubinemia 38.9%, hypoglycemia 28.6%, IRDS 18%, sepsis & other infections 8.1% etc, in the order of frequency. 8) Most deaths were seen within first 24hr (74.5%).
Adult ; Birth Weight ; Cause of Death ; Eclampsia ; Female ; Gestational Age ; Humans ; Hyperbilirubinemia ; Hypoglycemia ; Incidence ; Infant, Newborn ; Infant, Premature ; Male ; Maternal Age ; Membranes ; Mortality ; Pre-Eclampsia ; Pregnancy ; Pregnancy, Multiple ; Rupture ; Sepsis ; Sex Ratio

We report a case of myelodysplastic syndrome (MDS) with unique histopathological findings in which numerous infiltrated neutrophils exhibited nuclear segmentation anomalies. In comparison with well-described neutrophilic dermatoses of myelodysplastic syndrome such as Sweets syndrome and pyoderma gangrenosum, this case took a rapid and aggressive clinical course. We suggest that a nuclear segmentation anomaly, pseudo Pelger-Hiiet anomaly, is likely to reflect acute transformation of MDS and can be a poor prognostic marker.
Myelodysplastic Syndromes ; Neutrophils* ; Pyoderma Gangrenosum ; Skin Diseases ; Sweet Syndrome

BACKGROUND/AIMS: The endoscopic mucosal resection has now been adopted for a useful modality in both curative therapy and accurate diagnosis of early gastric cancer. A retrospective study was done to evaluate the indication and the limitation of endoscopic mucosal resection of early gastric cancer. METHODS: We studied 20 cases of early gastric cancer treated by endoscopic mucosal resection in Chungnam National University Hospital from November, 1995 to July, 1997. RESULTS: 1) The size affected the curability: 83. 3% of lesions less than 2 cm and 50. 0% of those larger than 2 cm were resected completely. 2) The depth of cancer invasion affected the curability: 87. 5% of lesion confined to mucosa were resected completely, while all of submucosal cancers were resected incompletely. 3) Among fourteen cases resected completely, three cases of lesions larger than 2 cm were residual cancer and two of those less than 2 cm were recurred locally. CONCLUSIONS: To be a curative therapy by endoscopic mucosal resection of early gastric cancer, we think that careful selection of the lesion, that is lesion less than 2cm and confined to mucosa, is necessary
Chungcheongnam-do ; Diagnosis ; Mucous Membrane ; Neoplasm, Residual ; Retrospective Studies ; Stomach Neoplasms*

Under specific circumstances the appendix vermiformis may be an appropriate organ for replacement of a large ureteral defect or efferent loop in continent urinary diversion. Since 1995 we have applied the appendix in ureteral substitution (3 cases) and continent urinary diversion (3 cases). Primary diagnoses included complete lower ureteral stricture due to urinary tuberculosis (3 cases), invasive bladder tumor (1 case), areflexic neurogenic bladder (1 case), and contracted bladder (1 case). In all patients who have been replaced the ureter with appendix, clinical symptoms were markedly improved and degree of hydronephrosis decreased. Other patients with continent urinary diversion using appendix achieved dryness and low postoperative complications. we anticipate that the appendix will be used more commonly in the future as a ureteral substitute or continent urinary diversion as more urologists become more comfortable with it through its use in various reconstructive procedures.
Appendix* ; Constriction, Pathologic ; Diagnosis ; Humans ; Hydronephrosis ; Postoperative Complications ; Tuberculosis ; Ureter ; Urinary Bladder ; Urinary Bladder Neoplasms ; Urinary Bladder, Neurogenic ; Urinary Diversion

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

PURPOSE: To identify factors that influence serum zinc concentrations in children with acute gastroenteritis. METHODS: Thirty-two children under 5 years of age (15 boys and 17 girls) were selected randomly among those who visited to an pediatric emergency room of Ehwa Womans University Mokdong Hospital with acute gastroenteritis from May to August 2005. This study estimated the association between serum zinc concentrations and clinical, biochemical variables in patients with acute gastroenteritis. RESULTS: Serum zinc concentration was lower in febrile patients than afebrile patients with acute gastroenteritis (67.0+/-25.3 vs 85.5+/-14.2, p<0.05). It also was lower in patients with positive C-reactive protein (CRP) than those with negative CRP (63.9+/-25.4 vs 86.7+/-13.8, p<0.05). Serum zinc concentration was negatively correlated (r=-0.494, p<0.05) with CRP concentration, whereas positively correlated with hematocrit (r=0.370, p<0.05), total protein (r=0.474, p<0.05), and albumin (r=0.636, p<0.05). Twelve patients (37.5%) showed very low serum zinc concentration (<70 microgram/dL) without clinical symptoms of deficiency or growth retardation. Frequency of febrile illness or positive CRP is significantly greater in group with zinc <70 microgram/dL than the group with zinc > or =70 microgram/dL (91.7% vs 55%, p<0.05; 91.7% vs 40%, p<0.05, respectively). CONCLUSION: In patients with acute gastroenteritis, serum zinc concentration was influenced by various factors such as fever, CRP, and biochemical factors. For evaluating zinc status in the body. factors.
C-Reactive Protein ; Child* ; Emergency Service, Hospital ; Female ; Fever ; Gastroenteritis ; Hematocrit ; Humans ; Zinc*