PURPOSE: To detect microdeletion of 15q11-13 region, high resolution cytogenetic analysis or FISH with probe at Prader-Willi syndrome region can be used. We tried to evaluate whether FISH with SNRPN is a more effective method than G-banding microscope in the diagnosis of Prader-Willi syndrome. MEHTODS: Peripheral blood sampling was done on five patients who we suspected of Prader-Willi syndrome clinically and lymphocytes from peripheral blood sampling were cultured. G-banding microscope was used to detect the microdeletion in chromosome 15 and FISH with SNRPN probe was used to detect signal defect in band q11-q13 in chromosome 15. RESULTS: There was a fluorescent signal defect in band 15 q11-q13 in one of chromosome 15 in 4 children with FISH method and only one patient was diagnosed with Prader-Willi syndrome with G-banding microscope. CONCLUSION: FISH analysis is more accurate, objective, and time saving than G-banding microscope, therefore it can be considered as a more adequate screening test for the diagnosis of Prader-Willi syndrome.
Child ; Chromosomes, Human, Pair 15 ; Cytogenetic Analysis ; Diagnosis* ; Fluorescence* ; Humans ; Lymphocytes ; Mass Screening ; Prader-Willi Syndrome* ; snRNP Core Proteins

BACKGROUND: Since reperfusion early after acute myocardial infarction has been demonstrated to reduce the infarct size and mortality, many drugs and interventions to reduce the reperfusion injury have been tried with limited success. Adenosine, a potent coronary vasodilator, has been reported to counteract a few mechanisms implicated with reperfusion injury, however, its effects and exact mechanisms to reduce the reperfusion injury have not been clearly elucidated. METHODS AND RESULTS: Effects of adenosine upon infarct size reduction and upon postulated mechanisms involved in the reperfusion injury such as no reflow phenomenon and neutrophil infiltration were evaluated in anesthetized open chest dog model where acute myocardial infarction was induced by 90 minute left anterior descending coronary artery occlusion followed by 240 minute reperfusion. Adenosine(3.75 mg/min) was administered intravenously for total 90 minutes from 30 minutes before reperfusion. Compared to control group(n=6), infarct area/risk area ratio was significantly lower in adenosine group(n=6)(34+12% vs. 22+/-11, p=0.04), although risk area/total left ventricular area ratio were similar in both groups. Myocardial blood flows(MBF), measured by radiolabelled microspheres, of the infarcted regions during coronary occlusion were similar in both groups, however, both subepicardial MBF(0.63+/-0.15ml/min/g vs. 0.95+/-0.31, p=0.02) and subendocardial MBF(0.45+/-0.08 ml/min/g vs. 0.69+/-0.27, p=0.02) were higher in daenosine group. Neutrophil infiltration, semiquantitatively measured under light microscope, were less severe in daenosine group,compared to control group. CONCLUSION: Intravenous adenosine administered before coronary reperfusion appears to reduce infarct size by limiting reperfusion injury through improving no reflow phenomenon and preventing neutrophil infiltration to the ischemic myocardium during reperfusion.
Adenosine* ; Animals ; Coronary Occlusion ; Coronary Vessels ; Dogs* ; Microspheres ; Mortality ; Myocardial Infarction* ; Myocardial Reperfusion ; Myocardium ; Neutrophil Infiltration ; No-Reflow Phenomenon ; Reperfusion Injury* ; Reperfusion* ; Thorax*

In cesarean section under general anesthesia, inhalation anesthetics may compound fetal acidosis brought by maternal hypoxia or uteroplacental insufficiency. The chance af fetal distress may be increased with prolonged induction-delivery (ID) and uterine incision-delivery (UD) intervals in such cases. These studies were undertaken to evaluate the changes of fetal acid-base and blood-gas status according to these intervals in 58 parturients given cesarean section under general anesthesia. 58 neonates were divided into three groups according to their ID interval [group 1 (N=26): less than 6 minutes, group 2 (N=25): 6 to 10 minutes, group 3 (N=7): 10 to 15 minutes] and four groups according to their UD interval[group A (N=25): less than 60 seconds, group B (N=22): 60 to 90 seconds, group C (N=9): 90 to 120 seconds, group D (N=2): 120 to 180 seconds]. The pH, PCO2, PO2 and HCO3 values of the umbilical vein blood at delivery in the groups 1, 2, 3 divided according to ID intervals were 7.37+/-0.03, 7.36+/-0.04, 7.36+/-0.03; 39.75+/-4.83, 41.76+/- 4.03, 38.81+/-2.31; 34.35+/-745, 32.65+/-9.63, 30.89+/-11.28 (in mmHg); and 23.21+/-0.33, 23.30+/-0.26, 22.15+/-0.52 (in mEq/L), respectively, and in groups A, B, C, D divided according to UD intervals, they were 7.37+/-0.02, 7.37+/-0.02, 7.37+/-0.03, 7.36+/-0.06; 40.30+/-5.20, 40,63+/-3.11, 39.96+/-4.42, 40.03 +/-5.09; 32.35+/-8.23, 31.82+/-0.17, 35.67+/-8.35, 33.53+/-10.53 (in mmHg); and 23.14+0.26, 23.60+/-0.36, 22.88+/-0.67, 23.35+/-0.35 (in mEq/L), respectively. No significant differences in these values were present between these ID- or UD- based groups.
Acidosis ; Anesthesia, General* ; Anesthetics, Inhalation ; Anoxia ; Cesarean Section ; Female ; Fetal Distress ; Humans ; Hydrogen-Ion Concentration ; Infant, Newborn* ; Pregnancy ; Umbilical Veins

The effect of anesthetic duration of epinephrine and morphine mixture with hyperbaric tetracaine on spinal anesthesia was studied at Tague Catholic University Hospital. Fifty-two pa- tients, ASA physical status I-II, were selected randomly and divided them into 4 groups as follows: Group A; Only 0.5% hyperbaric tetracaine 14 mg injection. Group B; Mixture of 0.5% hyperbaric tetracaine 14 mg and morphine 0.15 mg injection. Group C; Mixture of 0.5% hyperbaric tetracaine l4 mg and epinephrine 0.2 mg injection. Group D; Mixture of 0.5% hyperbaric tetracaine 14 mg, morphine 0.15 mg and epinephrine 0.2 mg injection. The results of motor block onset, motor block duration, sensory block onset and sensory block duration were as follows: 1) Motor block onset; There were no statistical differences between each groups. 2) Motor block duration; The duration of motor blocks were significantly longer in group C and D than group A. The duration of motor block was significantly longer in group D than group B. 3) sensory block onset; There were no statistical differences between each groups. 4) Sensory block duration, The duration of sensory blocks were significantly longer in group D than group A, B and C. These results suggested that the effect of anesthetic duration of epinephrine and morphine mixture with local anesthetics simultaneously on spinal anesthesia were more prolonged than tetracaine injeetion only and injection of tetracaine, epinephrine mixture.
Anesthesia, Spinal* ; Anesthetics, Local* ; Epinephrine* ; Morphine* ; Tetracaine

Recently limb sparing surgery is accepted as an alternative method in the management of muskuloskeletal tumors of the extremity without undue compromise to the patient s life. But the limb sparing procedure results in large osseous and soft tissue defects. To fill these defect, several options have been used such as tumor prosthesis, temporary spacer with cementation, allograft, and autograft(fresh, autoclaved, low heat treated, and extracorporeal irradiated). To identify the indica- tions ot' individual option, we studied 66 cases of musuloskeletal tumors of extremity which were treated with wide or marginal resection and reconstructive surgery from June, 1990 to June, 1997, in which 48 cases were osteosarcomas, 3 chondrosarcomas, 2 synovial sarcomas. I liposarcoma, 1 giant cell tumor, I malignant lymphoma, and 10 metastatic bone tumors. The location of the lesion were distal femur in 24, proximal tibia in 24, proximal femur in 9, proximal humerus in 6, tibial midshaft in 1. distal radius in 1, and calcaneus in 1. In Enneking stages about primary bone tumors 6 cases were IIA, 42 IIB, and 8 III. We reconstructed the osseous defect with tumor prosthesis in 22 cases, temporary spacer in 9(later, 4 cases was changed to tumor prosthesis for staged operation), allograft in 25, and autograft in 14(low heat treated in 2, irradiated in 12). Total functional result by Enneking system was 71.5% . 80.8% with tumor prosthesis, 50.5% with temporary spacer, 70% with allograft, 75.3% with autograft. Infections were occurred in 18% of the patients treated with tumor prosthesis, 34% with allograft, 0% with temporary spacer or low heated autograft, and 18% with irradiated autograft. Delayed union or nonunion was occurred in l5% of the patients treated with allograft, 40% with autograft. There were 2 cases of metal failure and 2 cases of graft fracture using autograft. In conclusion, we propose that the indication of the tumor prosthesis is for the skeletally matured patient, patient with high-grade malignant tumor, older patients, and patient who have limited life expectancy. The reconstruction with allograft have several advantages for the patients with henign bone tumor and locally aggressive or low-grade malignant tumor. The temporary spacer may be used as staged operations for the skeletally immature patient and patient who have an extreme hone and soft tissue defects after limb sparing operation. The recycling autograft may be applied to the patients at any age with minimal bony involvement of tumor. The low heat treated autograft may be useful in the patients requiring intercalary reconstruction, and the irradiated autograft may he useful in the patients with periarticular involvement.
Allografts ; Autografts ; Calcaneus ; Cementation ; Chondrosarcoma ; Extremities* ; Femur ; Giant Cell Tumors ; Hot Temperature ; Humans ; Humerus ; Life Expectancy ; Liposarcoma ; Lymphoma ; Osteosarcoma ; Prostheses and Implants ; Radius ; Recycling ; Sarcoma, Synovial ; Tibia ; Transplants

A 39-year-old woman with aplastic anemia suffered from progressive visual disturbance and headache. Funduscopic examination revealed pronounced bilateral papilledema. Lumbar puncture disclosed an elevated opening CSF pressure with normal biochemical and cellular findings. Brain MRI was normal. After transfusion of blood products, papilledema and her symptoms were improved. We conclude that the development of pseudotumor cerebri is related to aplastic anemia resulting from bone marrow failure.
Adult ; Anemia, Aplastic* ; Bone Marrow ; Brain ; Female ; Headache ; Humans ; Magnetic Resonance Imaging ; Papilledema ; Pseudotumor Cerebri* ; Spinal Puncture

Myocardial infarction is usually associated with thrombotic occlusion of an artherosclerotic coronary artery. Reperfusion induced by administration of thrombolytic agents may presserve myocardial function and reduce mortality. At a mean of 272 minutes from symtom onset, 7 patients with acute myocardial infarction received recombinant tissue-type Plasminogen Activator. The results are as followings: 1) Reperfusion of the infarct-related artery was observed in all of the 5 patients in whom coronary angiography was performed 19 hour after initiation of drug infusion. Ergonovine challenge test, done in 1 patient who showed normal coronary artery, did not induced coronary spasm. 2) The maximal value of Creatine Kinase and Creatine Kinase-MB(2098+/-2107U/L and 728+/-532U/L, respectively) occured at 7.2+/-4.3 hour, respectively. A nadir value of fibrinogen(42+/-21% of the preinfusion value) occured at 3.1+/-2.0 hour. 3) Major bleeding episodes occured in 3 patients. Major cardiac events were angina followed by percutaneous transluminal coronary angioplasty in 1 patient; cardiogenic shock in 2 patients, one of whom also experienced recurrent ventricular tachycardia;reinfarction in 1 patient, 3 of the 7 patients died.
Angioplasty, Balloon, Coronary ; Arteries ; Coronary Angiography ; Coronary Vessels ; Creatine ; Creatine Kinase ; Ergonovine ; Fibrinolytic Agents ; Hemorrhage ; Humans ; Mortality ; Myocardial Infarction* ; Reperfusion ; Shock, Cardiogenic ; Spasm ; Tissue Plasminogen Activator*

Myocardial infarction is usually associated with thrombotic occlusion of an artherosclerotic coronary artery. Reperfusion induced by administration of thrombolytic agents may presserve myocardial function and reduce mortality. At a mean of 272 minutes from symtom onset, 7 patients with acute myocardial infarction received recombinant tissue-type Plasminogen Activator. The results are as followings: 1) Reperfusion of the infarct-related artery was observed in all of the 5 patients in whom coronary angiography was performed 19 hour after initiation of drug infusion. Ergonovine challenge test, done in 1 patient who showed normal coronary artery, did not induced coronary spasm. 2) The maximal value of Creatine Kinase and Creatine Kinase-MB(2098+/-2107U/L and 728+/-532U/L, respectively) occured at 7.2+/-4.3 hour, respectively. A nadir value of fibrinogen(42+/-21% of the preinfusion value) occured at 3.1+/-2.0 hour. 3) Major bleeding episodes occured in 3 patients. Major cardiac events were angina followed by percutaneous transluminal coronary angioplasty in 1 patient; cardiogenic shock in 2 patients, one of whom also experienced recurrent ventricular tachycardia;reinfarction in 1 patient, 3 of the 7 patients died.
Angioplasty, Balloon, Coronary ; Arteries ; Coronary Angiography ; Coronary Vessels ; Creatine ; Creatine Kinase ; Ergonovine ; Fibrinolytic Agents ; Hemorrhage ; Humans ; Mortality ; Myocardial Infarction* ; Reperfusion ; Shock, Cardiogenic ; Spasm ; Tissue Plasminogen Activator*

Primitive neuroectodermal tumors(PNETs) and medulloblastoma are common primary malignant brain tumors of childhood. Untreated patients are proven to be fatal, but the current treatment regimens may achieve 50% to 60% cures. However, the prognosis of each individual case can not be accurately determined, because exact prognostic factors have not been established. The aim of this study was to investigate whether various factors were correlated with clinical outcome, and to understand their roles in the oncogenesis. Twenty-five patients with medulloblastoma and nine patients with supratentorial PNETs were reviewed(mean follow-up periods: 25.6 months). We have investigated the prognostic value of p53 protein and other oncogene expression by immunohistochemistry and DNA analysis by flow cytometry on paraffin section of the specimen. We also studied the other prognostic factors such as clinical features, tumoral factors, and treatment modalities as well. The positive expressions of p53 protein, c-myc, and pan-ras were significantly high in these tumors. With DNA flow cytometry, 18 were aneuploid and 8 were diploid. There was no significant prognostic correlation between the immunoreactivity of p53, oncogene expression, and DNA ploidy. Only the stage of tumor(T, M stage; p=0.0002, 0.0418, respectively) and chemotherapy(p=0.0433) were correlated with their prognosis. We conclude that further special investigations should be added to justify the prognostic factors for these highly malignant tumors.
Aneuploidy ; Brain Neoplasms ; Carcinogenesis ; Diploidy ; DNA ; Flow Cytometry ; Follow-Up Studies ; Humans ; Immunohistochemistry ; Medulloblastoma* ; Neural Plate ; Neuroectodermal Tumors, Primitive* ; Oncogenes ; Paraffin ; Ploidies ; Prognosis*

We present a case of 48-year-old male who presented with coronary artery fistula draining into left ventricle. Transthoracic echocardiography showed abnormal blood flow draining into left ventricle, with enlarged coronary arteries and multiple vascular structures around ventricular myocardium. Coronary computed tomography revealed dilatation of entire left coronary artery which was wrapping around left ventricle, and draining into the posterior side of left ventricle. He did not undergo any invasive treatment, because he was not symptomatic.
Coronary Vessels* ; Dilatation ; Echocardiography ; Fistula* ; Heart Ventricles* ; Humans ; Male ; Middle Aged ; Myocardium