Holoprosencephaly, a grave malformation during cleavage phase of brain development, occurs in association with a variety of clinical syndrome including chromosomal aberration. Among chromosomal anomalies trisomy syndromes, particularly trisomy 18, are often associated with holoprosencephaly. Triploidy with holoprosencephaly had also been described. We report an autopsy case of incomplete triploidy with abnormal sex chromosome, i.e., 63, XXY. Our case showed a marked intrauterine growth retardation, and postmortem examination revealed alobar holoprosencephaly, hypotelorism, bilateral cleft palates and lips, flat nose, microstomia, lowset ears, congenital heart disease and cystic kidney. The brain was microcephalic 5 x 6 cm and was of pancake shape. there was a large dorsal cyst. Olfactory tracts and bulbs were absent. The brain surface was smooth, and only suggestive hippocampal fissure was noted. The basal ganglia and thalami were fused in midline and the aqueductal origin was exposed. The brain stem and cerebellum were unremarkable. Repeated karyotypings revealed 63,XXY consistently. All 21 chromosomes showed trisomy except for D group. The sex chromosome was XXY, and the genital tract and gonad were those of female.
Female ; Humans

Superficial angiomyxoma is a comparatively rare dermal and subcutaneous tumor. We report a case of superficial angiomyxoma of the thumb in view of its rarity and typical light and electronmicroscopic features. The patient was a 46-year-old male. who presented with an asymptomatic, slowly enlarging mass that developed in the left thumb over the 5 years. He had a history of trauma and electric burn in the same area 20~30 years ago. Simple X-ray and magnetic resonance imaging revealed 35x30mm, mass with destruction of distal phalangeal bone. On operation, the lesion was moderately well circumscribed and soft with lobulated nodules that elevated the overlying skin and destroyed the underlying bone. The cut surface of the mass was glistening and slimy. The mass was whitish gray and lobulated. Bony involvement was not present. Microscopically, the tumor was composed of stellated and spindle shaped stromal cells which were scattered throughout myxoid ground substance. Neither nuclear hyperchromasia nor plemorphisam was present. Small to medium sized thin walled blood vessels were scattered. There was a scanty infiltrate of inflammatory cells. The S-100 protein immunostaining was negative in tumor cells. On electron microscopy, the cytoplasm of the stromal cells contained well developed rough ednoplasmic reticulums and other features that indicated differentiation toward fibroblasts.

Milk of calcium located in the breast is typically a benign entity. However, carcinoma may incidentally arise adjacent to or even within milk of calcium. Consequently, the characteristics of all observed calcific particles should be carefully analyzed. In this study, we report a case of carcinoma presented as malignant microcalcifications mixed within milk of calcium in a breast.
Breast Neoplasms/*chemistry/radiography ; Calcium Carbonate/*analysis ; Carcinoma, Ductal/*chemistry/radiography ; Female ; Humans ; Mammography ; Middle Aged

PURPOSE: To investigate the incidence and significance of localized fluid collection in the hepatic bare area re-sulting from blunt abdominal trauma in children. Materias and Methods:We retrospectively reviewed the CT scans and medical records of eighty children with blunt abdominal trauma and evaluated the incidence of fluid collection in the hepatic bare area. The findings were correlated with the presence of injury to adjacent organs. RESULTS: Fluid collection in the hepatic bare area was noted in 23 of 80 patients (28.7%). Associated organ in-juries included liver laceration (17/23), contusion of the right hemidiaphragm (7/23), right adrenal injury (5/23), and right renal injury (5/23). In one patient, organic injury was not detected in spite of fluid collection in the hepatic bare area. Eight of 23 patients (34.8%) showed fluid collection in this area, but not intraperitoneally. CONCLUSION: Fluid collection in the hepatic bare area after blunt abdominal trauma was noted in about 30% of patients and was frequently accompanied by injury to adjacent organs. Since right hemidiaphragmatic contusion associated with fluid collection in the bare area was a not uncommon CT finding, close observation of the condition is warranted.
Child* ; Contusions ; Humans ; Incidence ; Lacerations ; Liver ; Medical Records ; Retrospective Studies ; Tomography, X-Ray Computed

PURPOSE: The purpose of this study was to explore the relationships of family strain, perceived social support, family hardiness, and family adaptation and identify the family resiliency factors for the adaptation of families who have a child with congenital heart disease. METHOD: The sample consisted of 90 families who had a child diagnosed with congenital heart disease and completed surgical treatment. Data was collected from parents using a questionnaire. RESULTS: Results from path analyses revealed that family strain had a direct effect on both perceived social support and family hardiness, and an indirect effect on family adaptation. Also, the findings revealed that perceived social support had a direct effect on both family hardiness and family adaptation, and family hardiness had a direct effect on family adaptation. Thus, these results indicated that perceived social support and family hardiness had a mediating effect on family strain. CONCLUSION: Findings provide the evidence for the theoretical and empirical significance of perceived social support and family hardiness as family resiliency factors for family adaptation. Clinical implications of these findings might be discussed in terms of family-centered nursing interventions for the families who have a child with congenital heart disease based on an understanding of family resiliency for adaptation.
*Adaptation, Psychological ; Child ; Family/*psychology ; Female ; Heart Defects, Congenital/*psychology/surgery ; Humans ; Male ; Questionnaires ; Social Support

Iatrogenic esophageal perforation is very rare in pediatric patients. Preterm infants or low birth weight babies are more susceptible to esophageal perforation due to performing frequent tracheal intubation and/or gastric tube installation. When perforation occurs, it may present as pneumothorax and pulmonary interstitial emphysema. However, isolated pneumomediastinum without pneumothorax is a rare finding. Furthermore, the mediastinitis after esophageal perforation is rare complication, but it can be a critical complication. Therefore, making an immediate and precise diagnosis as well as instituting proper treatment of esophageal perforation and mediastinitis are important. To the best of our knowledge, few reports have described mediastinitis after pneumomediastinum that was secondary to esophageal perforation. We describe here the radiologic findings of a rare case of mediastinitis after pneumomediastinum in a preterm infant with esophageal perforation.
Diagnosis ; Emphysema ; Esophageal Perforation* ; Humans ; Infant, Low Birth Weight ; Infant, Newborn ; Infant, Premature* ; Intubation ; Mediastinal Emphysema* ; Mediastinitis* ; Pneumothorax

Morphological changes of hepatic microcirculation, especially in the peribiliary plexus, in cirrhotic livers of rats induced by repeated intraperitoneal injections of N-diethyinitrosamine (DEN) (100mg/kg/week) were studied by scanning electron microscopy. Control rats were treated with saline. The livers were perfused with saline and injected with methyl-methacrylated resin (Mercox CL-2B) through the thoracic aorta. Diffuse nodular changes mimicking human cirrhosis were seen in the livers six weeks after injections of DEN. The cirrhotic livers showed an increase of vascular channels composed mainly of venous branches around the regenerating nodules and increased arterioloportal anastonloses. Peribiliary plexi of the cirrhotic livers had more vessels than those of the controls. Many dilated veins and ramificating portal vein branches were also Present. Direct connections between peribiliary plexi and sinusoids or between peribiliary plexi and portal veins were increased in the cirrhotic liver. These results suggest that the peribiliary plexi in experimentally induced cirrhotic liver might play a role in a collateral circulation under a state of portal hypertension.
Humans ; Rats ; Animals

The CYP11A1 gene encodes for the cholesterol side-chain cleavage enzyme (P450scc), which initiates steroid hormone biosynthesis. Defective P450scc activity results in severe glucocorticoid and mineralocorticoid deficiencies. We describe a case of P450scc deficiency due to a novel homozygous CYP11A1 variant inherited from the mother with a possibility of uniparental disomy (UPD). The patient was a female, had no family history of endocrine disease, and showed adrenal insufficiency at 13 days of age. Hormonal analysis with an adrenocorticotropic hormone stimulation test showed both glucocorticoid and mineralocorticoid deficiencies, presumed to be a defect of the early stage of steroidogenesis. Exome sequencing reported a novel homozygous frameshift variant of CYP11A1 (c.284_285del, p.Asn95Serfs*10), which was inherited from the mother.Additionally, homozygosity in 15q22.31q26.2, which included CYP11A1, was identified using a chromosomal microarray. It was suggested that the possibility of maternal UPD was involved as the cause of a P450scc deficiency by unmasking the maternally derived affected allele. To our understanding, P450scc deficiency associated with UPD encompassing CYP11A1 had not been reported in Korea before. Genetic analysis can help diagnose rare causes of primary adrenal insufficiency, including P450scc deficiency.

PURPOSE: This cross-sectional survey research was undertaken to identify the factors influencing time from onset to hospital arrival of stroke patients and to provide basic information for the development of intervention programs for stroke patients. METHODS: The data were collected using a convenient sampling method from three hospitals in Inchon. The subjects were 78 patients who were diagnosed as stroke by doctor and they voluntarily participated in the study. RESULTS: On the average, subjects arrived at the hospitals by 16.72 hours after the onset of stroke events with the range from 0.17 hours to 72 hours. Thirty-four(43.6%) subjects arrived within 3 hours which can maximize treatment effects. There was significant difference in hospital presentation time according to the level of knowledge(chi-square=18.629, p=.0003). A negative correlation was found between the hospital presentation time and self-efficacy (r= -.320, p=.004). Stepwise multiple regression analysis revealed that the most powerful predictor was self-efficacy. Self-efficacy, the level of knowledge and physical symptoms were significant factors and accounted for 21.7% of the variance of hospital presentation time in stroke patients. CONCLUSION: According to the results, self-efficacy is a useful concept for reducing the hospital presentation time from onset of attack in stroke patients. Therefore, nurses should consider educational programs which include not only a knowledge of stroke and recurrence prevention but also the concept of self-efficacy.
Cross-Sectional Studies ; Humans ; Incheon ; Recurrence ; Stroke*

The clinical and pathological features of a paraganglioma arising in the cauda equina is described and compared with previous reports. The right microscopic fetures were similar to those of paragangliomas from other sites, with a 'Zellballen' pattern of cells containing arzyrophil granules. Immunohistocytochemical stains for neurone specific enolase, S-100 protein, cytokeratin were positive, but stains for glial fibrillary acidic protein were negative. Electron microscopy showed densely staining membrane-bound granules, cilia like structures and fibros bodies in the cytoplasm. The last two features only occur in paragangliomas from this site. The pathological findings suggest that paragangliomas in this site arise from pre-existing paraganglia, possibly of the visceral autonomic group.