BACKGROUND: Autosomal dominant cerebellar ataxia type II(ADCA type II) can be differentiated from other types of ADCA by visual disturbances due to pigmentary macular degeneration. Recent genetic studies repeatedly mapped the gene responsible for ADCA type II to chromosome 3p12-13(SCA7) in caucasian patients. However, in Asian patients CAG expansion at the SCA7 locus has not yet been reported. METHODS: We analyzed clinical data obtained from three Korean families in which 14 members presented clinical features compatible with ADCA type II. We also performed a genetic study for 17 members (7 affected and 10 asymptomatic) from two of the three families. RESULTS All seven affected patients had abnormally increased CAG repeat numbers (range : 38-59) in SCA7. One asymptomatic 23-year-old woman had 45 CAG repeats in the SCA7. Other 9 asymptomatic family members had 10 CAG repeats in the SCA7. CONCLUSION: We showed that as caucasian patients, Asian patients with ADCA type II also have abnormally increased CAG repeats at SCA7.
Asian Continental Ancestry Group ; Cerebellar Ataxia ; Female ; Humans ; Macular Degeneration ; Young Adult

BACKGROUND: Aprotinin is a potent, nonspecific broad serine protease inhibitor. It's inhibitory effects on intrinsic pathway of coagulation cascade can augment anticoagulation by heparin. This study designed to demonstrate augmented anticoagulation of aprotinin to heparin contaminated blood on thromboelastography(TEG). METHODS: This study designed into two phases for 21 healthy volunteers undergoing elective opeation. The first phase study, it was for looking at TEG differences between blood treated with aprotinin 200 KIU and blood treated with heparin 0.05 unit and 0.1 unit per blood 1 ml. The second phase study was for looking at anticoagulation of aprotinin added by heparin 0.05 unit and 0.1 unit per blood 1 ml and their reversal added by optimal dose of protamine sulfate. RESULTS: The aprotinin treated blood showed only a prolonged reaction time. Blood treated with incremental dose of heparin showed longer reaction time and smaller alpha angle than TEGs of native blood. Aprotinin added to the heparin contaminated blood showed much longer reaction time and much less alpha angle when compared with TEGs of aprotinin or heparin treated blood. Depressed TEG pattern by the heparin and aprotinin mixture reversed back to the TEGs of blood treated with aprotinin when optimal dose of protamine added. CONCLUSIONS: Those results suggest that aprotinin administered in open cardiac surgery can augment the remained anticoagulation effect due to heparin even after first dose fo protamine after weaning of cardiopulmonary bypass. This is of clinically improtance to distinguish heparin related coagulopathy from heparin non related coagulopathy by thromboelastography.
Aprotinin* ; Cardiopulmonary Bypass ; Healthy Volunteers ; Heparin* ; Protamines ; Reaction Time ; Serine Proteases ; Thoracic Surgery ; Thrombelastography* ; Weaning

BACKGROUND: Heparin released from grafted liver immediately after declamping is one of causes of coagulopathy, and its presence has been diagnosed by comparing thromboelastography(TEG) of blood treated with 0.01% of protamine and untreated blood. However, protamine may affect coagulation if the amount of protamine is not optimal to heparin in the blood sample. Heparinase, an enzyme isolated from Flavobacterium Heparinum, neutralizes heparin without adversely affecting coagulation. Therefore we compared the TEGs of blood treated with heparinase and protamine to clarify the sensitivity and reliability of heparinase in reversing the heparin effect. METHODS: Differences in Reaction time(R time), Alpha angle, Maximal Amplitude(MA) between native and heparinase treated TEG on reperfusion in 8 cases of orthotopic liver transplantations were compared with those between native and protamine in 14 cases of OLT. RESULTS: On reperfusion, all of TEGs treated with heparinase showed more improved data rather than native one in R time, Alpha angle and MA. But, in protamine treated blood, R time and Alpha angle in 6 patients and MA in 3 patients were more depressed. The scattergram show that TEGs treated with heparinase on reperfusion have almost positive difference, but TEGs treated with protamine did not have positive results consistently. CONCLUSIONS: Heparinase is a more reliable reagent and activator than protamine on TEG for detecting heparin effects on reperfusion without showing in-vitro anticoagulation. Those results suggest that heparinase on TEGs can make diagnosis of coagulopathy developed immediately after reperfusion efficiently.
Diagnosis ; Flavobacterium ; Heparin Lyase* ; Heparin* ; Humans ; Liver Transplantation* ; Liver* ; Reperfusion* ; Thrombelastography* ; Transplantation ; Transplants

BACKGROUND: Heparin released from grafted liver immediately after declamping is one of causes of coagulopathy, and its presence has been diagnosed by comparing thromboelastography(TEG) of blood treated with 0.01% of protamine and untreated blood. However, protamine may affect coagulation if the amount of protamine is not optimal to heparin in the blood sample. Heparinase, an enzyme isolated from Flavobacterium Heparinum, neutralizes heparin without adversely affecting coagulation. Therefore we compared the TEGs of blood treated with heparinase and protamine to clarify the sensitivity and reliability of heparinase in reversing the heparin effect. METHODS: Differences in Reaction time(R time), Alpha angle, Maximal Amplitude(MA) between native and heparinase treated TEG on reperfusion in 8 cases of orthotopic liver transplantations were compared with those between native and protamine in 14 cases of OLT. RESULTS: On reperfusion, all of TEGs treated with heparinase showed more improved data rather than native one in R time, Alpha angle and MA. But, in protamine treated blood, R time and Alpha angle in 6 patients and MA in 3 patients were more depressed. The scattergram show that TEGs treated with heparinase on reperfusion have almost positive difference, but TEGs treated with protamine did not have positive results consistently. CONCLUSIONS: Heparinase is a more reliable reagent and activator than protamine on TEG for detecting heparin effects on reperfusion without showing in-vitro anticoagulation. Those results suggest that heparinase on TEGs can make diagnosis of coagulopathy developed immediately after reperfusion efficiently.
Diagnosis ; Flavobacterium ; Heparin Lyase* ; Heparin* ; Humans ; Liver Transplantation* ; Liver* ; Reperfusion* ; Thrombelastography* ; Transplantation ; Transplants

Thromboelastography(TEG) is a useful monitor for assessing coagulation function in patients undergoing open heart surgery. However, whole blood clotting patterns on TEG are not able to obtain during the cardiopulmonary bypass(CPB) with heparin anticoagulation. When pretreating TEG sample with heparin antidote, heparinase or protamine (heparinase-modified TEG or protamine modified TEG) can make possible assessing the changes of clotting on TEG during the CPB. In this study, data from heparinase(N=50) and protamine(N=26) modified TEG were obtained before, during and after CPB in 76 open cardiac patients, which are presented to describe their usefulness concerning about prediction for coagulation after weaning of CPB. Heparin neutralized TEG revealed that all of depressed values initially after starting bypass were returning back to the values of before starting bypass on weaning CPB. These results suggested that function of the fibrinogen and platelet were relatively well maintained during the bypass. The fibrinolysis during the bypass were commonly developed in 51.2% without affecting by time course of CPB. Even though initial dose of protamine reversal after bypass, there were obviously residual heparin effects on heparinase-modified TEG as simultaneously comparing with native TEG. Regarding correlation of TEG findings in cases excluding fibrinolysis between before and after bypass, R time and MA before bypass were significantly correlate with R time and MA on heparinase-modified TEG after bypass but not on native TEG. (R time: R 0.46, MA: R=0.54). The data gathered in this study suggested heparin independent TEG assay can be useful to assess the coagulation function during the bypass and to predict the values of TEG after bypass, but residual heparin effect must be initially excluded to avoid underestimating the coagulation status after protamine reversal.
Blood Coagulation ; Blood Platelets ; Fibrinogen ; Fibrinolysis ; Heart* ; Heparin Lyase ; Heparin* ; Humans ; Thoracic Surgery* ; Weaning

In the literature, Terson's syndrome most commonly co-occurs with subarachnoid hemorrhage(SAH) secondary to rupture of an A-com or ICA aneurysm. It is usually observed bilaterally and the prognosis is poor. The authors report two rare cases of unilateral Terson's syndrome after rupture of MCA bifurcation aneurysm rupture. In both cases, retinal hemorrhage was noticed after early aneurysmal clipping ; after these were conservatively treated, the visual acuity of one patient improved slightly and that of the other showed no change. For early detection and proper management of retinal hemorrhage after subarachnoid hemorrhage, early and periodic fundoscopic examination appears to be important.
Aneurysm* ; Humans ; Prognosis ; Retinal Hemorrhage ; Rupture* ; Subarachnoid Hemorrhage* ; Visual Acuity

PURPOSE: Right lobe donation is technically more difficult and need to define surgical technique and has more risk for surgical complication. Right lobe donation usually matched graft size but safety of donor is major concern. In this paper, we reviewed our experience of donor hepatectomy using right lobe in regarding to safe of our donor operations, retrospectively. METHODS: Retrospective analysis of 42 donor operations for adult LDLT using right lobe was performed. We observed the patient characteristics, the operative findings, peak liver enzymes (AST, ALT, bilirubin) as donor risk and mortality, morbidity. RESULTS: The peak value of liver enzymes in the group of less the 30% of remained liver were significantly higher than the group of more than 30% of remained liver and these values could induced the risk on donor. The postoperative peak value of liver enzymes were increased according to degree of fatty change especially in case of more than 10% fatty change even without significance. We observed the liver regeneration on postoperative 3 months and the regeneration of liver volume on postoperative 3 months was about two times compare to preoperative value and the regenerative activity was more increased in the group of less amount of remained volume. There was no donor mortality and most important complication was biliary complication, in which were biliary injury, bile leakage and biliary stricture. CONCLUSION: Right lobectomy for donor operation requires a meticulous surgical technique to minimize donor morbidity. Right lobectomy can be performed safely with minimal risk in case of careful donor selection that the remained liver volume exceed 30% of the total liver volume and the liver of minimal fatty change.
Adult ; Bile ; Constriction, Pathologic ; Donor Selection ; Hepatectomy ; Humans ; Liver Regeneration ; Liver Transplantation* ; Liver* ; Living Donors* ; Mortality ; Regeneration ; Retrospective Studies ; Tissue Donors* ; Transplants

No abstract available.
Adrenocortical Adenoma* ; Lipomatosis* ; Paraplegia*

The surgical approach to the lower cervical lesions, especially in traumatic injuries, has been controversial. Some authors advocated posterior fusion for such lesions, while others disagreed and reported good operative results with anterior approach using several types of cervical plates. We analysed 28 patients with lower cervical spine traumatic as well as pathological lesions who underwent 32 anterior surgical interventions with cervical plates during the period of August, 1991 and December, 1993. A successful postoperative vertebral stability was obtained in 5 patients(89.3%) and in 19 patients(87.5%) who had predominent posterior ligamentous injuries. Serious complications such as esophageal perforation and postoperative angulation were seen in 5 patients(17.3%) that were related to the process of reduction. With our clinical experiences, we support anterior fusion with cervical plates particularly for lower cervical lesions even though posterior fusion has ben preferred for traumatic posterior ligamentous complex injuries.
Esophageal Perforation ; Humans ; Ligaments ; Spine

Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative disorders which disrupt the afferent and efferent pathways of the cerebellum that cause cerebellar ataxia. Spectrin beta non-erythrocytic 2 (SPTBN2) gene encodes the β-III spectrin protein with high expression in Purkinje cells that is involved in excitatory glutamate signaling through stabilization of the glutamate transporter, and its mutation is known to cause spinocerebellar ataxia type 5. Three years and 5 months old boy with delayed development showed leukodystrophy and cerebellar atrophy in brain magnetic resonance imaging (MRI). Diagnostic exome sequencing revealed that the patient has heterozygous mutation in SPTBN2 (p.Glu1251Gln) which is a causative genetic mutation for spinocerebellar ataxia type 5. With the patient's clinical findings, it seems reasonable to conclude that p.Glu1251Gln mutation of SPTBN2 gene caused spinocerebellar ataxia type 5 in this patient.
Amino Acid Transport System X-AG ; Atrophy ; Brain ; Cerebellar Ataxia ; Cerebellum ; Efferent Pathways ; Exome ; Glutamic Acid ; Humans ; Magnetic Resonance Imaging ; Male ; Neurodegenerative Diseases ; Purkinje Cells ; Spectrin ; Spinocerebellar Ataxias*