Menkes disease is an X-linked recessively inherited neurodegenerative disorder of copper metabolism leading to death in early childhood. This disease is characterized by low serum, liver and brain Cu levels, whereas the Cu content in nearly all other organs is increased. The main clinical features are irregular kinky hair, characteristic face, progresssive degeneration of the central nervous system, bone changes, arterial rupture and thrombosis, and instability of temperature. We have experienced a case of Menkes disease in a eight months old male patient, who manifested by seizure, developmental delay, hypotonia, characteristic hair and face along with low levels of serum copper and ceruloplasmin. We report the characteristic findings of cranial MRI and MR angiography in this Menke's patient. In cranial MRI, he showed progressive brain atrophy with subdural hemorrhage and effusion. MR angiography revealed tortuosity of vessels clearly obviating necessity of more invasive conventional arteriography in diagnosis of this disease. This study suggested that cranial MRI and especially MR angiography might be helpful in making early diagnosis of this disease.
Angiography ; Atrophy ; Brain ; Central Nervous System ; Ceruloplasmin ; Copper ; Diagnosis ; Early Diagnosis ; Hair ; Hematoma, Subdural ; Humans ; Liver ; Magnetic Resonance Imaging ; Male ; Menkes Kinky Hair Syndrome ; Metabolism ; Muscle Hypotonia ; Neurodegenerative Diseases ; Rupture ; Seizures ; Thrombosis

Heat shock protein of 72 kDa (HSP70) has a role in the functional modulation of sex steroid hormone receptors and in p53-associated oncogenesis and inhibits apoptosis associated with bcl-2. However, the exact role of HSP70 in the development of endometrial adenocarcinoma has not been well established. The aim of this study is to evaluate the role of HSP70 in relation with ER, PR, p53 and bcl-2 expressions and apoptosis in benign and malignant endometrial lesions. Immunohistochemical studies for HSP70, ER, PR, p53, bcl-2 and TUNEL method for apoptosis were performed in 30 cases of adenocarcinoma and 30 cases of benign endometrial lesions consisted of each 10 cases of disordered proliferative endometrium (DP), simple or complex hyperplasia (HP), and atypical hyperplasia (AH). There were no significant differences of HSP70 and bcl-2 expression rates and apoptotic index (AI) between DP, HP, AH, and adenocarcinoma. p53 expression rate in adenocarcinoma was 36.7%, but no p53 expression was identified in DP, HP and AH (p<0.05). In adenocarcinoma, HSP70 expression rate was higher in ER and PR negative adenocarcinoma (p<0.05), and p53 expression rate was higher in nonendometrioid type and FIGO grade II and III (p<0.05), but no significant difference of bcl-2 expression rate according to the histological type and FIGO grade. AI was higher in nonendometrioid type (p<0.05). There was no correlation between HSP70, p53 and bcl-2 expressions, and no significant difference of AI according to HSP70, ER, PR, p53, and bcl-2 expressions. In conclusion, higher HSP70 expression rate in poorly differentiated and ER and PR negative adenocarcinoma suggests that HSP70 inhibits ER and PR expression and may be involved in the development of poorly differentiated endometrial adenocarcinoma.
Adenocarcinoma* ; Apoptosis* ; Carcinogenesis ; Endometrium ; Female ; Heat-Shock Proteins ; Hyperplasia ; In Situ Nick-End Labeling

We report 2 cases of pediatric DNTs which presented with intractable seizures and no other associated neurologic abnormalities. They showed typical appearance of DNTs on neuroimaging and histopathology. Most patients with DNT can be cured by surgical treatment with exellent outcome and do not need ratio- or chemotheraphy. This study indicates that it is quite important to consider DNTs as one of differential diagnoses in patients with intractable seizures especially when they present only with seizures without other neurologic symptoms.
Child* ; Diagnosis, Differential ; Humans ; Neoplasms, Neuroepithelial* ; Neuroimaging ; Neurologic Manifestations ; Seizures*

No abstract available.
Female ; Fetomaternal Transfusion* ; Pregnancy

Cushing’s syndrome is an endocrinologic disorder that occurs due to an excessive secretion of adrenal cortex-stimulating hormones or an overproduction of cortisol in the adrenal glands. Patients present with a variety of clinical symptoms such as obesity, hypertension, impaired glucose tolerance, and cardiovascular complications have been known for major contributors to the mortality. The inferior petrosal sinus sampling (IPSS) test is a useful diagnostic tool for identifying the source of Cushing’s disease. This procedure involves process of collecting samples through venous access and is generally considered safe. Here, we present 44-year-old patient diagnosed with Cushing’s disease presenting pulmonary thromboembolism and multiple embolic infarctions following IPSS.

OBJECTIVE: To identify factors affecting test results of the quiet standing balance evaluation conducted by posturography and to investigate the standardized method by comparing results according to feet width. METHOD: The study cohort consisted of 100 healthy individuals. We assessed the quiet standing balance of subjects by using 3 different methods: standing on a force plate with feet width the same as shoulder width (test 1); with feet width the same as half the shoulder width (test 2); with feet width determined by the subject's comfort (test 3). Subjects underwent each test with their eyes open and closed for 30 seconds each time. Parameters for measuring standing balance included the mean mediolateral and anteroposterior extent, speed, and the velocity moment of center of pressure (COP) movement. RESULTS: All parameters showed better results when the subject's eyes were open rather than closed, and the mean AP extent and speed increased as the age of the subjects increased (p<0.01). However, there was no significant correlation between height and the study parameters, and no differences between men and women. Mean mediolateral extent and speed were significantly longer and faster in test 1 compared with tests 2 and 3 (p<0.01). The results of test 2 were better than the results of test 3, but the difference was not statistically significant. CONCLUSION: COP movements increased with age and when subjects closed their eyes in an evaluation of quiet standing balance conducted by posturography. Gender and height did not affect results of the test. We suggest that an appropriate method for conducting posturography is to have the subject stand on a force plate with their feet width the same as half the shoulder width, because this posture provided relatively accurate balance capacity.
Cohort Studies ; Eye ; Female ; Foot ; Humans ; Male ; Posture ; Shoulder

The meninges composed of the dura, the arachnoid and the pia are significant sites of blood-brain barrier. Physical disruption of the integrity of the meninges from avariety of causes including surgery results in various patterns of meningeal enhancement on contrast enhanced MR images. It is important to distinguish normal reactive or benign postoperative enhancement from more serious leptomeningeal metastasis or infection, particularly in children with intracranial neoplasms. We present various pat-terns of meningeal enhancement on MRI in children following surgery for brain neop lasms.
Arachnoid ; Blood-Brain Barrier ; Brain Neoplasms* ; Brain* ; Child* ; Humans ; Magnetic Resonance Imaging* ; Meninges ; Neoplasm Metastasis

PURPOSE: To evaluate the CT findings in patients with Langerhans cell histiocytosis (LCH) involving the orbit. MATERIALS AND METHODS: Orbital CT scans of six children with pathologically proven LCH were retrospectively analyzed. Follow-up CT (n = 5) and MR (n = 1) imaging findings were also revi ewed. RESULTS: Initial CT scans revealed varying degree of bone destruction with soft-tissue masses, and on nonenhanced images the mean attenuation value was 44 Hounsfield units(HU). All masses showed mild to moderate enhancement with a mean attenuation value of 74 HU. The bony margins abutting onto soft tissue masses were irregular but clearly demarcated. No evidence of calcification or periosteal reaction was noted. Suprasellar mass and rib involvement was noted in one patient and hepatos-plenomegaly in two. Follow-up CT and MR images showed that the soft tissue masses were almost completely resolve d, with bone remodeling and reossification. CONCLUSION: A soft tissue mass with irregular but clearly demarcated bone destruction is thought to be a characteristic finding of LCH involving the orbit. Follow-up images after treatment showed bone remodeling and reossification.
Bone Remodeling ; Child ; Follow-Up Studies ; Histiocytosis ; Histiocytosis, Langerhans-Cell* ; Humans ; Orbit* ; Retrospective Studies ; Ribs ; Tomography, X-Ray Computed

BACKGROUND: Insulin resistance, decreased response of peripheral tissue to normal insulin levels, is known to be related to cardiometabolic diseases. Cardiopulmonary fitness is also considered to be related to these comorbidities. Therefore, we investigated the relationship between insulin resistance and cardiopulmonary fitness by performing a 3-minute step test in a Korean non-diabetes mellitus (DM) population. METHODS: A total of 118 non-DM subjects were enrolled during their routine health check-up. Insulin resistance was measured by calculating homeostatic model assessment-insulin resistance (HOMA-IR), and a 3-minute step test was performed to measure cardiopulmonary fitness. RESULTS: Post-60 seconds exercise heart rate after 3-minute test (R60 heart rate) was correlated with age (r = -0.21, P = 0.02), education (r = 0.17, P = 0.04), body mass index (r = 0.23, P = 0.01), waist circumference (r = 0.28, P < 0.01), fasting insulin (r = 0.28, P < 0.01), HOMA-IR (r = 0.25, P < 0.01), low density lipoprotein-cholesterol (r = 0.28, P < 0.01), high sensitivity C-reactive protein levels (r = 0.22, P = 0.02), and baseline heart rate (r = 0.56, P < 0.01). In a step-wise multiple regression analysis, baseline heart rate (beta = 0.79, P < 0.001), HOMA-IR (beta = 0.65, P = 0.02), and systolic blood pressure (beta = 0.15, P = 0.03) were identified as explanatory variables for R60 heart rates. CONCLUSION: Our results suggested that cardiopulmonary fitness was associated with insulin resistance in non-DM patients of a university hospital in Korea. Further studies are needed to elucidate the underlying mechanisms.
Blood Pressure ; Body Mass Index ; C-Reactive Protein ; Comorbidity ; Exercise Test ; Fasting ; Heart ; Heart Rate ; Humans ; Insulin ; Insulin Resistance ; Korea ; Physical Fitness ; Waist Circumference

PURPOSE: This is a descriptive study conducted in order to survey sleep patterns and factors responsible for sleep disturbance among adolescent cancer patients after hospital admission. METHODS: The study group included 46 adolescent cancer patients aged 10 to 19 who received admission care in multi-bed hospital rooms from March to June 2016. Data on patterns and quality of sleep, and factors causing sleep disturbance were recorded using the Verran and Snyder-Halpern (VSH) Sleep Scale, the Pittsburgh Sleep Quality Index (PSQI), and a sleep disturbance questionnaire. RESULTS: There was no difference in patterns and quality of sleep prior to and after hospital admission in the study group. However, patients experienced sleep disturbance, as defined by PSQI > 5, both before (5.43) and after (6.30) admission. The most important physical, emotional and environmental factors causing sleep disturbance after admission were nocturnal diuresis, monotony of admission care, and crying of younger patients respectively. CONCLUSION: This study focused on sleep patterns and factors causing sleep disturbance after hospital admission for adolescent cancer patients. Future studies should aim to develop nursing interventions resulting in an environment that improves sleep quality. Additional studies should focus on developing daytime programs to determine the impact of admission care on other quality of life parameters.
Adolescent* ; Crying ; Diuresis ; Humans ; Nursing ; Quality of Life ; Sleep Wake Disorders