No abstract available.
Spinal Muscular Atrophies of Childhood*

Lipocortin represents a family of similar Ca++ depentent phospholipid-binding proteins capable of blocking the activity of phospholipase A2 (PLA2) in vitro. Generally, these proteins are believed to inhibit the release of arachidonic acid from photopholipids and the formation of lipid mediators such as prostaglandin, leukotriene, and platelet activating factor. Lipocortin 1, initially identified as a glucocorticoid- responsive protein in macrophages and neutrophils has been implicated in transmembrane signal transduction during growth factor-mediated cell proliferation and transformation. To define the synthesis and its regulation, we investigated the expression of lipocortin 1 in both the mRNA and protein level in U937 cell line in the presence of several differentiation factors. The results were as follows. 1. The expression of lipocortin 1 and its mRNA was increased during TPA-induced differentiation of U937 cells to maximum of 2-fold and 5-fold respectively. Both the protein and mRNA levels decreased after 48 hours. 2. With the treatment with IFN-gamma, the expression of CD16 was increased. However, the protein and mRNA levels of lipocortin 1 were, not changed significantly. 3. Neither the dexamethasone or hydrocortisone have any effects on the expression of lipocortin 1 in both TPA-differentiated and undifferentiated U937 cells. The results from this study would give a light on defining the functional role of lipocortin 1 in macro-moncycle cell lineage and possibly some informative clues for the pathogenic mechanisms of the inflammatory diseases.
Annexin A1* ; Annexins* ; Arachidonic Acid ; Cell Lineage ; Cell Proliferation ; Dexamethasone ; Humans ; Hydrocortisone ; Macrophages ; Neutrophils ; Phospholipases A2 ; Platelet Activating Factor ; RNA, Messenger ; Signal Transduction ; U937 Cells*

Fine needle aspiration cytology of three cases of pulmonary hamartoma is presented. Case 1 was in a 67-year-old man with a 7 cm-sized left lung mass. Case 2 and 3 were in 47 and 53 year old females and consisted of 3 cm and 2 cm-sized right lung nodules, respectively. Fine needle aspiration of the masses revealed several fragments of irregularly shaped mature hyaline cartilage or fibromyxoid mesenchyme and sheets of benign epithelial cells in scanty to acellular background. Also scattered were inflammatory cells including lymphocytes, neutrophils and histiocytes and mature fat cells. These features were diagnostic for pulmonary hamartoma and case 1 was histologically confirmed by following surgical excision of the mass. Differential diagnoses about pulmonary hamartoma in the respect of conditions capable of producing cartilage on fine needle aspiration, were discussed.
Female ; Male ; Humans ; Diagnosis, Differential ; Hamartoma

BACKGROUND: Microdeletion syndromes not detectable by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). Therefore, it is essential to ensure that patients with MR are screened for these microdeletion syndromes. Mental retardation syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new technique for measuring sequence dosages that allows for the detection of copy number changes of several microdeletion syndromes (1p36 deletion syndrome, Williams syndrome, Smith-Magenis syndrome, Miller-Dieker syndrome, DiGeorge syndrome, Prader-Willi/Angelman syndrome, Alagille syndrome, Saethre-Chotzen syndrome, and Sotos syndrome) to be processed simultaneously, thus significantly reducing the amount of laboratory work. METHODS: We assessed the performance of MLPA (MRC-Holland, The Netherlands) for the detection of microdeletion syndromes by comparing the results with those generated using FISH assays. MLPA analysis was carried out on 12 patients with microdeletion confirmed by FISH (three DiGeorge syndrome, four Williams syndrome, four Prader-Willi syndrome, and one Miller-Dieker syndrome). RESULTS: The results of MLPA analysis showed a complete concordance with FISH in 12 patients with microdeletion syndromes. CONCLUSIONS: On the basis of these results, we conclude that MLPA is an accurate, reliable, and cost-effective alternative to FISH in the screening for microdeletion syndromes.
*Chromosome Deletion ; Classical Lissencephalies and Subcortical Band Heterotopias/genetics ; DiGeorge Syndrome/genetics ; Humans ; In Situ Hybridization, Fluorescence/*methods ; Laboratories, Hospital ; Mental Retardation/*diagnosis/genetics ; Nucleic Acid Amplification Techniques/*methods ; Prader-Willi Syndrome/genetics ; Williams Syndrome/genetics

No abstract available.
Hemangioma*

Cellular blue nevus is an benign variant of blue nevus group, characterized by cellular islands composed of closely aggregated spindle cells with little or no melanin. The other variants include atypical and malignant blue nevus which often had the difficulties in the differential diagnosis from the malignant melanoma. A 4-year-old boy presented with hemispheric scalp nodule, which has been slowly grown since birth, measuring 3.5x3x1.5 cm. The surface showed geographic black pigmentation without hairs, hemorrhage, and ulceration. The excised mass disclosed homogeneoulsy dark black, glistening, and muddy cut surface. Histological examination revealed exuberant melanocytic proliferation with both spindle and dendritic components. Heavily pigment ed spindle cells, melanophages, focal necrosis, and vacuolated epithelioid cells were unusually noted in our case and diagnosed as cellular blue nevus. Electron microscopy disclosed largely mature melanosomes in tumor cells and melanophages. During about 16 months since operation, he has been relatively well with no evidence of disease.
Diagnosis, Differential

BACKGROUND: The goal of this study was to analyze the process and characteristics of withholding or withdrawal of life support (WLS) in Korean intensive care units (ICUs). METHODS: This was a single-centered retrospective analysis of patients who died in the ICUs of a tertiary hospital in Korea from January to December 2012. WLS informed consents and clinical data were analyzed. RESULTS: Of 285 deaths during the study period, informed consents for WLS were obtained from 228 patients (80.0%). All WLS decisions were made by family members after the patient's loss of decision-making capacity. Decisions were made most frequently by the patient's son (50.6%). Patients in the WLS group were older than those in the non-WLS group, and older age was associated with the WLS decision. Thirty-seven patients (16.2%) died within one hour of WLS approval, and 182 patients (79.8%) died on the day of WLS approval. The most frequently withheld life support modality was chest compression (100%), followed by defibrillation (95.9%) and pacemaker insertion (63.3%). CONCLUSIONS: Aggressive and invasive life support measures were those most frequently withheld or withdrawn by decision-makers in Korean ICUs. The most common proxy was the son, rather than the spouse.
Humans ; Informed Consent* ; Intensive Care Units* ; Korea ; Life Support Care ; Proxy ; Retrospective Studies ; Spouses ; Tertiary Care Centers ; Thorax ; Withholding Treatment

Therapeutic irradiation may produce a variety of adverse side effects on the central and the peripheral nervous systems. These adverse effects are divided into two main groups; transient and permanent. Four major clinical syndromes have been described in relation to permanent radiation injury of the nervous system: encephalopathy, cranial neuropathy, myelopathy, and peripheral neuropathy. Among them, delayed encephalopathy represents the major hazard in CNS irradiation. The characteristic MR imaging pattern of radiation induced delayed necrotizing leukoencephalopathy is symmetric, high-signal foci on T2WI in the periventricular white matter. We report a case of suspected post-irradiation leukoencephalopathy showed progressive mental change, quadriparesis, and urinary incontinence with characteristic MR findings who had taken therapeutic irradiation 12 months ago.
Cranial Nerve Diseases ; Leukoencephalopathies* ; Magnetic Resonance Imaging ; Nervous System ; Peripheral Nervous System ; Peripheral Nervous System Diseases ; Quadriplegia ; Radiation Injuries ; Spinal Cord Diseases ; Urinary Incontinence

BACKGROUND: Improved diagnostic and therapeutic strategies for infective for infective endocarditis such as proposed diagnostic criteria, Duke criteria and echocardiography resulted to increased life-spans of patients. METHODS: Retrospective analysis of medical records including medical history, laboratory data such as echocardiographic data and blood culture, and clinical outcomes was done for 106 patients with clinical diagnosis of infective endocarditis at Seoul National University Hospital from January 1990 to May 2000. Then we analysed differences of clinical features between elderly patients aged > or =60-years and the adult patients aged <60-years with infective endocarditis. RESULTS: The elderly patients >or=60-year are cases of 14%(15/106) and the mean ages are 67+/-8 years in elderly patient, 38+/-12 years in the adults patients respectively. Valvular heart disease was the most common predisposing heart disease with 9 cases(40%) followed by prosthetic valve endocarditis 2 cases (13%) in elderly patients, and there was no significant difference of frequencies with adult patients (valvular heart diseases, 33%; prosthetic valvular heart diseases, 25%). Although culture positive rates were not different with two groups: 47%(7/15) in elderly patients and 45%(41/91) in adult patients, the most common pathogen was staphylococcal species in elderly patients(27%, 4/15) but streptococcus species, in the adult patients(25%, 26/106, p<0.05). The frequencies of embolic complication were not different between two groups(20%, 3/15 vs 22%, 20/91: Elderly vs adult, respectively), but congestive heart failure was more developed in elderly patients, 33%(5/15) than in adult patients, 10%(9/91, p<0.05). Surgical intervention was more required in the elderly(47%, 7/15) than in adult patients(22%, 20/91, p<0.05). Out of 106 patients, 11 died and the overall mortality was 10.4%(11/106). In-hospital death was more common in the elderly than in adult patients: 4 cases(27%) vs 8%(7/91), p<0.05. Determinants of in-hospital death were patients with 60 years of age and older, Staphylococcus aureus endocarditis, and the presence of congestive heart failure(p<0.05) in univariate analysis. CONCLUSION: Infective endocarditis in elderly patients(age> or =60) had more poor outcomes than adult patients(age<60) such as the development of congestive heart failure, the need of surgical intervention, and the high mortality rate.
Adult ; Aged* ; Diagnosis ; Echocardiography ; Endocarditis* ; Estrogens, Conjugated (USP) ; Heart ; Heart Diseases ; Heart Failure ; Heart Valve Diseases ; Humans ; Medical Records ; Mortality ; Retrospective Studies ; Seoul ; Staphylococcus aureus ; Streptococcus

PURPOSE: Simulation-based learning has become a powerful method to improve the quality of care and help students meet the challenges of increasingly complex clinical practice settings. The purpose of this study was to identify the learning effects using high-fidelity SimMan and multi-mode simulation. METHODS: Participants in this study were 38 students who were enrolled in an intensive course for a major in nursing at R college. Collected data were analyzed using Chi-square, t-test, and independent t-test with the SPSS 18.0 for Windows Program. RESULTS: There were no statistically significant differences in learning effects between high-fidelity SimMan and multi-mode simulation group. However, skills in clinical performance in the high-fidelity SimMan group were higher than in the multi-mode group (p=.014), communication in clinical performance in multi-mode simulation group was higher than in the high-fidelity SimMan group (p<.001). CONCLUSION: Multi-mode simulation with a standardized patient is an effective learning method in many ways compared to a high-fidelity simulator. These results suggest that multi-mode simulation be offered to students in nursing colleges which cannot afford to purchase a high-fidelity simulator, or offered as an alternative.
Adult ; Education, Nursing, Baccalaureate ; Emergency Medical Services ; Female ; Heart Arrest/*nursing ; Humans ; Learning ; Male ; Manikins ; *Patient Simulation ; Students, Nursing/psychology