Myxofibrosarcomas (MFSs), which consist of multiple nodules with a variable cellular population in a myxoid matrix, are primarily located in subcutaneous tissue. Pleomorphic hyalinizing angiectatic tumors (PHATs) are rare soft-tissue tumors characterized by a proliferation of highly pleomorphic spindle or polygonal cells and abundant ectatic blood vessels in cellular or myxoid stroma. We present here an unusual case of a high-grade MFS with a PHAT-like appearance. A 67-year-old man presented with an asymptomatic subcutaneous mass in the right forearm. The tumor had myxoid, hypo-, and hypercellular areas with highly pleomorphic spindle or polygonal tumor cells that showed frequent mitoses and nuclear pseudoinclusions. Foci of punctuate necrosis and inflammatory infiltration were present throughout the tumor, and abundant ectatic, thick-walled vessels containing blood clots were noted. The tumor cells were immunohistochemically positive for vimentin but negative for CD34, S-100 protein, smooth muscle actin, desmin, and bcl-2.
Actins ; Aged ; Blood Vessels ; Desmin ; Forearm ; Humans ; Hyalin ; Mitosis ; Muscle, Smooth ; Necrosis ; S100 Proteins ; Sarcoma ; Subcutaneous Tissue ; Vimentin

No abstract available.
Abdominal Cavity* ; Abscess* ; Atrial Natriuretic Factor* ; Drainage*

Holt-Oram Syndrome is an autosomal dominant disorder characterized by the association of upper-limb abnormalities and congenital heart disease. A woman with no family history of genetic disease underwent antenatal sonography at 27 weeks' menstrual age to screen for fetal anomalies. Ultrasonography revealed abnormalities in the upper limbs. The limb abnormalities included abscence of bilateral thumbs and radius: the left humus was short. Pregnancy termination was performed. The postnatal chromosomal analysis revealed a normal 46XX karyotype and the autopsy finding confirmed the Holt-Oram syndrome. We report a case of Holt-Oram Syndrome in fetus with unaffected parents with brief of the literatures.
Autopsy ; Extremities ; Female ; Fetus ; Heart Defects, Congenital ; Humans ; Karyotype ; Parents* ; Pregnancy ; Radius ; Soil ; Thumb ; Ultrasonography* ; Upper Extremity

No abstract available.
Cyclosporine* ; Dermatomyositis*

No abstract available.

OBJECTIVE: Linkage analysis is a very useful method for prenatal diagnosis of Hemophilia B, especially when a mutation was not identified. Seven polymorphic markers were studied in Korean populations to evaluate the efficiency for prenatal and carrier diagnosis. METHODS: Subjects of this study was 100 healthy Korean women (200 X-chromosomes). Polymerase chain reacton-restriction fragment length polymorphism (PCR-RFLP) method was used to detect SalI, MseI, NruI, DdeI, XmnI, TaqI and HhaI polymorphisms. RESULTS: SalI (-) allele showed the frequency of 0.355 and SalI(+) allele 0.645. MseI(-) allele was 0.645 in frequency and MseI(+) allele was 0.355. SalI and MseI polymorphisms were in complete linkage disequilibrium. And no increase was expected in overall heterozygosity with these two polymorphisms. NruI(-) allele frequency was 0.855 and NruI(+) was 0.145. There was no polymorphism of DdeI, XmnI and TaqI marker systems in Korean population. In HhaI polymorphism, allele frequencies were estimated that HhaI(-) is 0.82 and HhaI(+) is 0.18. CONCLUSION: Only SalI, NruI and HhaI polymorphisms are useful for the diagnosis of hemophilia B in Korean population. Expected heterozygosity for above 3 poylmorphic markers was estimated to be 0.723, and 71 of 100 female subjects were heterozygous for at least one marker system. Korean population showed relatively low extent of polymorphisms compared to Caucasians, Blacks and Japanese. For the effective prenatal diagnosis of hemophilia B with linkage analysis, other polymorphic markers should be evaluated.
African Continental Ancestry Group ; Alleles ; Asian Continental Ancestry Group ; Diagnosis ; Factor IX* ; Female ; Gene Frequency ; Hemophilia B ; Humans ; Linkage Disequilibrium ; Prenatal Diagnosis

Double outlet right ventricle, a complex of congenital cardiac anomalies in which both great arteries arise wholly or in large part from the morphologic right ventricle presents diverse clinical manifestations according to the morphological characteristics. Eighty cases with DORV were diagnosed and operated at Yonsei Cardiovascular Center from 1988 to 1992. The analysis of the morphological characteristics of this anomaly and comparative study of operative methods and mortality according to the morphological classification led to the following results: 1) The location of VSD varied to be subaortic in 40 cases, subpulmonic in 15, doubly committed in 6 and noncommitted in 19 cases. The great arteries were interrelated in D-malposition in 43 cases and L-malposition in 18 and 26 cases among above mentioned 61 cases revealed the side-by-side relationship. Ten of the cases showed normal position and the rest 9, A-malposition. 2) Pulmonary stenosis was found in 60 cases, and when associated with subpulmonic VSD, occurring less frequently. PDA and ASD secundum were associated in successional order and only 3 cases were verified to carry aortic arch anomalies such as coarctation and interruption, all with subpulmonic VSD. 3) Intraventricular tunnel repair was possible in every case associated with subaortic VSD and the postoperative prognosis was excellent. In comparison, most of the cases associated with other types of VSD in which only palliative surgery or various types of intraventricular repair were performed, the general outcome was poor. But total cavopulmonary connection, one of the physiological corrective methods, showing a better postoperative prognosis is being carefully considered for its broad adoptation in future. In conclusion, double outlet right ventricle, a pathophysiological complex of various anomalies, should be thoroughly evaluated for the morphological characteristics to decide the most appropriate types of operation and for consequent improvement of prognosis.
Aorta, Thoracic ; Arteries ; Classification ; Double Outlet Right Ventricle* ; Heart Ventricles ; Mortality ; Palliative Care ; Prognosis ; Pulmonary Valve Stenosis

No abstract available.

The congenital diverticulum of ventricle is a rare cardiac malformation arising from the left or right ventricle, the former being more common. Ventricular diverticulum is usually associated with other anomalies including intracardiac, midline thoracic, diaphragmatic and abdominal wall defect. The authors experienced a case of congenital diverticulum of left ventricle in nine month-old female infant. Left Blolock-Taussig shunt operation was done and total correction will be done later. Thereafter we presented a case with brief review of the related literatures.
Abdominal Wall ; Diverticulum* ; Female ; Heart Ventricles ; Humans ; Infant ; Pulmonary Atresia*

BACKGROUND: The prostaglandin E1(PGE1) is a well known protent dilator of arteriosus. Maintaining of the patency of ductus arteriosus is crucial for the survival of patients suffering from ductus-dependent cyanotic congenital heart disease. We aimed to analyse the efficacy and the influencing factors upon PGE1 in patients suffering from this disease. METHODS: Between May 1991 and April 1993, 26 neonates and infants with ductus- dependent cyanotic congenital heart disease received on intravenous infusion of PGE1 in the Division of Pediatric Cardiology. Yonsei Cardiovascular Center. The result was a dramatic improvement in systemic arterial oxygen tension and oxygen saturation during infusion of PGE1with a dependency on the infusion of PGE1. We evaluated the arterial blood gas analysis both at the immediate pre-infusion stage and 2 hours after infusion. We aimed to analyse the factors which may influence the intravenous of PGE1to infant suffers of ducts-dependent cyanotic congenital heart disease, such as pulmonary atresia(n=14), severe pulmonary stenosis(n=7) or complete transposition of the great arteries(n=5). RESULTS: 1) There was a significant increase in PaO2 and Oxygen saturation 2 hours after the infusion of PGE1. This appeared to be unrelated to the different forms of the disease when compared with the pre-infusion values. 2) The infants' responsiveness of the ductus arteriosus appeared to be age related with significant differences emerging between the 2 group(p<.05). In infants younger than 9 hours old, the differences in PaO2 changes between pre-infusion and post-infusion of PGE1 were 16.3+/-3.7mmHg compared to just 10.4+/-0.4mmHg in infants older than 96 hours. 3) No significant difference emerged between an increase in PaO2or oxygen saturation relating to the shape of ductus arteriosus ; or the level of PaO2prior to the infusion. 4) The side effects of PGE1were as follows ; fever(84.6%),loose stool(61.5%), apnea(30.8%) and hypotension(15.4%), etc.. CONCLUSION: PGE1provides excellent medical palliation for infants suffering from ductus-dependent cyanotic congenital heart disease until the pulmonary arteries are large enough for a modified Blalock-Taussig shunt ; or until corrective surgery is possible.
Alprostadil ; Blalock-Taussig Procedure ; Blood Gas Analysis ; Cardiology ; Ductus Arteriosus ; Heart Defects, Congenital* ; Humans ; Infant* ; Infant, Newborn ; Infusions, Intravenous ; Oxygen ; Pulmonary Artery