We report a case of Hunter' s syndrome with characteristic nodules on the upper back. The patient was a 7-year-old Korean boy who presented with ivory-colored papules and nodules on both sides of the scapula, pectoral regions and lateral aspects of the upper arms. These lesione are regarded as pathognomonic cutaneous markers for Hunter s syndrome. He also presented with truncal hypertrichosis, retarded growth, short neck, round face, claw like contractures of hands, multiple joint contractures, and a clear cornea. Severely elevated glycosaminoglycan levels were present in the patient s urine samples. The patient s 5-year-old brother had similar clinical features.
Animals ; Arm ; Child ; Child, Preschool ; Contracture ; Cornea ; Hand ; Hoof and Claw ; Humans ; Hypertrichosis ; Joints ; Male ; Mucopolysaccharidosis II* ; Neck ; Scapula ; Siblings

An experiment was designed to investigate the brain edema with temporary microballoon to simulate intracerebral hemorrhage. A temporary mass lesion was made on the region of right basal ganglia(0.4 ml) with inflatable microballoon. After a 5 hours inflation state, the balloon was deflated and then we measured water content of the brain by vacuum freeze drying method at regular interval according to the groups. And we compared it with sham-treated group(balloon insertion without inflation) and permanent group(balloon inflation without deflation) respectively. There was no significant difference in water content between both hemispheres of all groups. In temporary group, the water contents of both hemisphere were higher than control group for initial 7 days, but became normalized in 4 weeks. The water content of cortex was higher than that of white matter for initial 7 days but reversed in 4 weeks comparatively in temporary group.
Brain Edema* ; Brain* ; Cerebral Hemorrhage ; Freeze Drying ; Hematoma* ; Inflation, Economic ; Vacuum

Mutations in the tumor suppressor p53 gene are the most frequently observed genetic lesions in human cancers. It seems that wild type p53 does significant role on growth and differentiation of normal cells, Mutations and allelic loss of the p53 gene are thought to be a cause of tumor development and to be correlated with the prognostic factors in various human cancers such as breast, ovary and lung cancer. Mutant p53 proteins have a prolonged half-life and can be detected by immunohistochemistry. In case of GTD(gestational trophoblastic disease), although the mutation of p53 gene mutation was revealed to be very rare, the overexpression of p53 in immunohistochemical staining has been reported in wide range of discrepancy and its role or prognostic significance in GTD is uncertain. This study is performed to define the status of p53 overexpression in GTD and to evaluate the correlations between p53 overexpression and prognostic factors of GTD. THE RESULTS WERE AS FOLLOWS: 1. p53 overexpression was detected in none of normal placental tissue, in 58.3%(14/24) of hydatidiform mole, in 15%(6/8) of invasive mole, in 75%(3/4) of choriocarcinoma, and in 100%(1/1) of placental site trophoblastic tumor, and showed significant difference between normal placenta and GTD. We could not find any difference of the p53 overexpression between benign group(H-mole) of GTD and malignant one(invasive mole, choriocarcinoma, and placental site trophoblastic tumor) 2. In H-mole, low-risk group showed significantly higher prevalence of p53 overexpression than high-risk group did. In malignant group, there is no difference in the prevalence of p53 overexpression between early(FIGO stage I) and late(II- IV)stage-diseases, but the prevalence of p53 overexpression of low-risk group is slightly higher than that of high-risk group although we failed to find statistical significance. In conclusion, the high prevalence of p53 overexpression in GTD suggests that p53 may have a certain role in the pathogenesis of GTD or at least represent generalized DNA damage or genetic instability of GTD. And the higher prevalence of p53 overexpression in low-risk group suggests that accumulation of wild-type p53 may be related with favorable prognosis in GTD.
Breast ; Choriocarcinoma ; DNA Damage ; Female ; Genes, p53 ; Gestational Trophoblastic Disease* ; Half-Life ; Humans* ; Hydatidiform Mole ; Hydatidiform Mole, Invasive ; Immunohistochemistry ; Loss of Heterozygosity ; Lung Neoplasms ; Ovary ; Placenta* ; Pregnancy ; Prevalence ; Prognosis ; Trophoblastic Tumor, Placental Site ; Trophoblasts

Piebaldism is a rare autosomal dominant genetic disorder characterized by localized and stationary hypomelanosis of skin and hair secondary to an absence of melanocytes in the involved skin. Depigmentation in piebalrlism shows a characteristic distribution that involves the forehead, ventral chest, abdomen, and extremities. Cases of piebaldism have been reported in association with extracutaneous abnormalities such as heterochromia irides, osteopathia striata, deafness, mental retardation, and Hirschsprung's disease. We report a case of piebaldism associated with strabismus and torticollis in a 6-year-old female patient. Piebaldism associated with strabismus and torticollis has not been reported in any previous literature.
Abdomen ; Child ; Deafness ; Extremities ; Female ; Forehead ; Hair ; Hirschsprung Disease ; Humans ; Hypopigmentation ; Intellectual Disability ; Melanocytes ; Piebaldism* ; Skin ; Strabismus* ; Thorax ; Torticollis*

Primary tumors of the heart are uncommon lesions that can mimic almost any type of cardiac disease. Over 90 per cent of myxoma which are the most common cardiac tumor occur in the atria, with 3 to 4 times as many occuring on the left as on the right. The development of nonivasive echocardiographic technique has made it possible to screen large numbers of patients with atrial myxoma with ease and safe. A 28 year old housewife was admitted because of dyspnea for 5 months. Clinical diagnosis of right atrial myxoma was made by echocardiography and right atrial angiocardiogram. Surgical resection was performed successfully. We presented a case of right atrial myxoma with a review of literatures.
Adult ; Diagnosis ; Dyspnea ; Echocardiography ; Heart ; Heart Diseases ; Heart Neoplasms ; Humans ; Myxoma*

The retrospective analysis was performed on 37 patients with stage III non small cell lung cancer who received the radiotherapy from Feb. 1986 to Dec. 1990 at the Dept. of Radiation Oncology, National Medical Center. This analysis, with 29 patients (78.4%) having been followed from 10 to 60 months, was done to know the survival rate and significant prognostic factor. The actuarial 2, 5-year survival rates were 20.6%, 6.9% in our all patients and Median survival time was 10 months. Of patients with KPS(Karnofsky performance status) greater than 80%, the 2, 5 year survival rate and median survival time were 29.2%, 9.7% and 13 months, respectively. The 2-year survival rate and median survival time of patients with KPS less than 80% were 13.7% and 7 months, respectively. The survival difference according to performance status was statistically significant(29.2% vs. 13.7%)(p<0.05). In stage IIIa, the 2, 5-year survival rate and median survival rate and median survival time were 29.2%, 9.7% and 12 months, respectively. The 2-year survival rate and metian survival time of stage IIIb were 8.6% and 10 months, respectively. The survival difference between stage IIIa and IIIb did not show statistical significance(p>0.1). Of the prognostic factors, the difference of survival rate by initial performance status was statistically significant (p<0.05). But the difference of survival rates by pathologic cell type, stage, total radiation dose, radiotherapy response, and combination with chemotherapy were not statistically significant.
Carcinoma, Non-Small-Cell Lung* ; Drug Therapy ; Humans ; Radiation Oncology ; Radiotherapy ; Retrospective Studies ; Small Cell Lung Carcinoma ; Survival Rate

To estimate the incidence of externally recognizable genitourinary anomalies and associated anomalies in the newborns in Korea, retrospective and prospective studies have been performed. Thirty eight of 48 urology training hospitals participated in this nationwide survey. In this study we have included minor defects or variations in the anomaly to evaluate the incidence of the recognizable genitourinary conditions in the newborns. The incidence of genitourinary anomaly in 1,000 newborn delivery in a year was 11.0 in the prospective study and this figure is about three times higher than the retrospective study and is considered to be close to the true incidence. The incidence of genitourinary anomaly in 1,000 male newborn was 20.4. Hydrocele, cryptorchidism and hypospadias were most commonly observed. The incidence of hydrocele in 1,000 male newborn was 9.89 and the incidence of cryptorchidism was 7.26 and the incidence of hypospadias was 2.13. The incidence of associated anomaly in 100 genitourinary anomaly was 7.9. Congenital heart diseases and anorectal anomalies were commonly associated anomalies. In the newborns with genitourinary anomalies, premature infants account larger portion than is usually reported in total delivery.
Birth Weight ; Congenital Abnormalities/epidemiology ; Female ; Gestational Age ; Humans ; Infant, Newborn ; Korea ; Male ; *Urogenital Abnormalities

BACKGROUND: Some studies has showed that even though reperfusion is essential for the recovery of renal function, it, itself, might be caused of renal injury through liberation of oxygen free radical due to surplus oxygen following reperfusion. If it is so, it can be presumed that oxygen free radical scavenger during reperfusion might be useful drugs to protect renal injury during reperfusion. On the base of this hypothesis, we selected prostaglandin E1 (PGE1) which is vasodilator and cellular protector which act through decreased demand of ATP and N-acetyl-L-cystein (NAC) which is oxygen radical scavenger for the purpose to see oxygen free radical scavenger related drugs will work on protection from renal injury during reperfusion. MATERIALS AND METHODS: To define the efficacy of these drugs, It was evaluated by a serial check of the serum creatinine level, and pathologic change on the light microscopy. And also to investigate the role of HSP 70 and HSP 72 on reperfusion injury, immunohistochemical study and Western blot analysis were performed on the experiment rats. The experimental ischemic renal model was made by clamping hilum of both kidney for 60 minutes on Wistar male rats. After declamping, PGE1, NAC and saline through a tail vein: PGE1 35 microgram/kg/hr, NAC 6 mM/kg/hr and 0.9% saline 1 ml/kg/hr were infused for 60 minutes and then blood samples were obtained from IVC at 1st hour, 2nd hour, 1st day hour, 2nd day and 5th day after reprefusion for creatinine. RESULTS: The serum creatinine was normalized in group receiving PGE1 at 5th day after reperfusion. But creatinine was not normalized in group receiving saline and NAC at 5th day after reperfusion: serum creatinine at 5th day after reperfusion were 0.58 0.08 mg/dl in group receiving PGE1, 2.85 0.65 mg/dl in group receiving saline and 2.96 0.51 mg/dl in group receiving NAC. There was expression of HSP 72 in group receiving PGE1 at 5th day after reperfusion. But not in group receiving NAC and saline at 5th day after reperfusion. It was noted to have prominent expression of HSP 70 in renal cortex in group receiving PGE1 at 2nd and 5th day. On contrary, there were prominent expression of HSP 70 in renal cortex in group receiving NAC at 1st and 2nd hour. CONCLUSION: It is clear that PGE1 has a protective effect for ischemic renal reperfusion injury by showing early regeneration of renal tubule, persistent expression of HSP 72 and HSP 70 and normalization of serum creatinine at 5th day after reperfusion.
Acetylcysteine* ; Acute Kidney Injury ; Adenosine Triphosphate ; Alprostadil* ; Animals ; Blotting, Western ; Constriction ; Creatinine ; Humans ; Kidney ; Male ; Microscopy ; Oxygen ; Rats* ; Regeneration ; Reperfusion Injury* ; Reperfusion* ; Veins

Spontaneous thoracic epidural hematoma occur rarely. We present a case of spontaneous thoracic epidural hematoma without any identified etiology and discuss the symptoms, signs and pathophysiology of this disorder. Early diagnosis and treatment by surgery can result in good recovery.
Early Diagnosis ; Hematoma*

Erdheim-Chester disease is a rare form of non-Langerhans cell histiocytosis consisting of disseminated xanthogranulomatous infiltration and fibrosis that involves the long bones, visceral organs, orbital, retroperitoneal and soft tissues. Intracranial involvement is very rare, although the most common site is extra axial if it occurs. In our case study, a 53-year-old woman with one-month history of left hemianopsia was examined and treated. Her initial T2-weighted MRI revealed increase in signal intensity and an irregularly enhanced mass following gadolinium injection in the right temporal lobe. Stereotactic biopsy was done, and histopathological diagnosis was Erdheim- Chester disease, consist of sheets of foamy histiocytes with abundant cytoplasm. The patient was treated with oral corticosteroid for 4 weeks. During next 6 months, the clinical picture and the MRI showed improvements.
Biopsy ; Cytoplasm ; Diagnosis ; Erdheim-Chester Disease* ; Female ; Fibrosis ; Gadolinium ; Hemianopsia ; Histiocytes ; Histiocytosis ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Orbit ; Temporal Lobe