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

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

We report two cases of cellulitis on the saphenous venectomy scar which developed after a coronary artery bypass graft(CABG). A 68-year-old male and a 62-year-old female developed acute cellulitis in the saphenous vein donor extremity after CABG. The repeated bacterial cultures were negative in both cases. However, onychomycosis was confirmed in one patient. The intervals between CABG and the initial bout of cellulitis in the male and female patient were 10 and 22 months, respectively. Although the exact pathogenesis remains obscure, factors such as direct bacterial infection, hypersensitivity to streptococcal exotoxins, a local compromise of lymphatic and venous drainage, and fungal infection might have contributed to the development of cellulitis in these patients.
Aged ; Bacterial Infections ; Cellulitis* ; Cicatrix* ; Coronary Artery Bypass* ; Coronary Vessels* ; Drainage ; Exotoxins ; Extremities ; Female ; Humans ; Hypersensitivity ; Male ; Middle Aged ; Onychomycosis ; Saphenous Vein ; Tissue Donors

No abstract available.
Paralyses, Familial Periodic*

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

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

BACKGROUND: The incidence of Cutaneous malignant tumors has increased recently and they have varied in their developing patterns according to social and environmental influences. However, we have little clinical data about the cutaneous malignant tumors in the Chonnam provinee. OBJECTIVE: Our purpose was to analyze the clinical characteristics of cutaneous malignant tumors observed in the Chonnam province and to compare them with the data previously reported in Korea. METHOD: We clinically analyzed 427 cases of cutaneous malignant tumors during a 10 year period betwecn January 1987 and Oetober 1996, at the Department of Dermatology, Chonnam Univemity Hospital in Kwangju. RESULTS: 1. The average armual incidence of cutaneous malignant tumors among the total number of outpatients was 1.00+/- 0.25%. The incidence tended to increase with time from 0.90+/-0.29% in the first 5 year-period to 1.15+/-0.09% in the late 5 year-period. The increasing rate was most pronmient in basal cell carcinoma. 2. The most common tumor in the 427 patients with malignant tumor was basal cell carcinoma (52.5%), followed by squamous cell carcinoma (19.9%), malignant melanoma (13.3%), metastatic carcinoma (3.7%), malignant lymphoma (2.3%). 3. The mean age of onset was 60.7+/-16.0 years old (male; 59.6+/-15.0, female; 61.9+/-17.1) in the in the group as a whole; 63.9 in BCC, 63.3 in SCC and 55.8 in malignant melanoma. The ratio of men to women was 1.14:l. 4. The most common site of a11 malignant tumors was the head and neck (64.6%), where 89.3% of BCC, 58.8% of SCC, and 15.8% of malignant melanoma developed. The next common site was the lower exlremities and feet (15.7%) followed by the trunk (7,7%), and upper extremities and hands (7.3%).
Age of Onset ; Carcinoma, Basal Cell ; Carcinoma, Squamous Cell ; Dermatology ; Female ; Foot ; Gwangju ; Hand ; Head ; Humans ; Incidence ; Jeollanam-do* ; Korea ; Lymphoma ; Male ; Melanoma ; Neck ; Outpatients ; Upper Extremity