Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disease caused by mutations in the neurogenic locus notch homolog protein 3 (NOTCH3) gene. The spectrum of clinical manifestations is broad, ranging from asymptomatic to typical ischemic stroke, and mainly depends on the location of the mutations. We describe the case of a 76-year-old female without apparent neurological deficits. However, brain magnetic resonance imaging revealed confluent lesions in the white matter. Direct sequencing of the NOTCH3 gene revealed a novel pathogenic mutation, c.811T>A, which results in a mild phenotype. Therefore, this report will expand the current knowledge in regards to the mutations that can cause CADASIL.

BACKGROUND: The addition of clonidine to local anesthetics for regional block has been shown to increase the duration of anesthesia and analgesia. This study was designed to determine whether the addition of clonidine to bupivacaine would produce an extension of the analgesic effect after intercostal nerve block (ICNB). METHODS: After informed consent, 30 ASA 1 or 2 patients undergoing appendectomy under general anesthesia were randomly divided into two groups. Before induction of anesthesia, ICNB using a posterior approach was performed with 15 ml of 0.25% bupivacaine plus epinephrine 1:200,000 with (Group BEC; n = 15) or without (Group BE; n = 15) clonidine 75 microgram. Analgesia was assessed by cold testing at 1/min intervals until cold sensation decreased. The duration of analgesia (time between injection and onset of pain) was recorded. We also recorded the visual analogue scale (VAS) of pain, the number of supplemental analgesics, heart rate and blood pressure, and side effects over 24 hours postoperatively. RESULTS: The onset time, duration of analgesia, number of analgesics, and heart rate and blood pressure were comparable in both groups. VAS scores were significantly lower in Group BEC than in Group BE at 12, 16, and 20 hours postoperatively. CONCLUSIONS: The addition of clonidine to bupivacaine with epinephrine may be a useful adjunct and can prolong the duration of analgesia after ICNB without significant side effects.
Analgesia ; Analgesics ; Anesthesia ; Anesthesia and Analgesia ; Anesthesia, General ; Anesthetics, Local ; Appendectomy ; Blood Pressure ; Bupivacaine* ; Clonidine* ; Epinephrine ; Heart Rate ; Humans ; Informed Consent ; Intercostal Nerves* ; Pain, Postoperative* ; Sensation

The hyperfiltration hypothesis postulates that kidney with reduced renal mass will progress toward failure due to hypertrophy of the remaining nephron to meet the excess load, eventually leading to nephron exhaustion. We assessed the influence of renal size on graft function in all allogrft except loss of graft within 6 month between September 1995 and February 1997(n=58). Patients were divided into two groups based on the ratio of kidney weight to recipient body surface area(KW/BSA>or=0.11, KW/BSA<0.11), weight(KW/BW>or=0.3, KW/BW<0.3) respectively and outcomes were compared by methods including student t-test and Chi-square test. Three conditions, in which hyperfiltration might be suspected, proposed by Teraski, were studied also: grafts from females to males compared with males to females, kidneys that experience rejection episodes and cadaveric grafts compared with living donor grafts. There was no correlation between KW/BSA, KW/BW and serum creatinine and degree of proteinuria at 1, 3, 6, 12 months posttransplant. Three conditions under which hyperfiltration damage might be suspected had no differences in study groups. Although more cases should be studied with long term follow-up, we conclude that donor kidney size has no apparent effect on renal allograft outcome in short term follow-up.
Allografts* ; Body Surface Area* ; Cadaver ; Creatinine ; Female ; Follow-Up Studies ; Humans ; Hypertrophy ; Kidney Transplantation ; Kidney* ; Living Donors ; Male ; Nephrons ; Proteinuria ; Tissue Donors ; Transplants

Renal transplantation is the optimal treatment for children with end-stage renal disease. While it is largely recognized that improvements in immunosuppressive management, technical advances, and improved long-term care have had beneficial impacts on pediatric renal transplant outcome, graft survival of pediatric renal transplants is inferior to that of adult renal transplants. In order to investigate factors affecting graft survival and to devise better strategies for successful pediatric renal transplant outcome, a retrospective study was conducted. One hundred and eleven renal allografts(LRD:80, LUD:20, CAD:11) were transplanted to 111 pediatric ESRD patients under the age of 20 during the period between July, 1979 and June, 1997. Male to female ratio was 77:34. Mean duration of follow up was 55.9 months. Mean age at transplantation was 12.9 yrs. including 24 patients under the age of 10. Thirty one acute rejection episodes in 25 patients(22.5%) and 24 chronic rejections(21.6%) developed. Original diseases recurred in 12 patients, especially, 8/19 in focal segmental glomerular sclerosis(FSGS). Twenty three grafts were lost(20.7%) due to 18 chronic rejections, 3 recurrences of the original renal disease and 2 patient deaths with functioning graft. Overall 1, 3, 5, 10yr graft and patient survival rates were 94.3%, 86.3%, 76.3%, 62.5% and 98.2%, 96.1%, 94.0%, 94.0%, respectively. In univariate analysis, presence of acute rejection(p=0.012), posttransplant 1 week serum creatinine>or=2.5mg/dL(p=0.022), and LUD (p=0.028) were significant risk factors for poor graft survival. In multivariate analysis, presence of acute rejection(p=0.024) and LUD(p=0.027) were the poor prognostic factors for graft survival. In conclusion, improvement in graft survival of pediatric renal transplantation can be achieved by early detection and aggressive management of acute rejection and preferred selection of related donor in living donor kidney transplantation.
Adult ; Child ; Female ; Follow-Up Studies ; Graft Survival* ; Humans ; Kidney Failure, Chronic ; Kidney Transplantation* ; Living Donors ; Long-Term Care ; Male ; Multivariate Analysis ; Recurrence ; Retrospective Studies ; Risk Factors ; Survival Rate ; Tissue Donors ; Transplants*

Even when DNA sequencing of purified DNA template failed under the optimal condition, it can be generally contributed to high GC content. GC-rich region of template causes a secondary structure to produce shorter readable sequence. To solve this problem, the sequencing reaction was modified by using dimethyl sulfoxide (DMSO). It was found that 5% (v/v) of DMSO in the reaction mixture recovers sequencing signal intensity with reduced frequency of ambiguous bases. When DMSO was added to sequencing reaction of DNA template with normal GC content, it did not show any adverse effect. Sequencing accuracy and unambiguous base frequency were significantly improved at concentration of 2% to 5% (v/v) DMSO in GC-rich DNA template. DMSO has been empirically introduced to enhance the efficiency of PCR in GC-rich templates. However, the underlying mechanism of improved cycle sequencing by DMSO is unknown. Thus, cycle sequencing reaction was remodified with other additives such as N-methyl imidazole, N-methyl2-pyrrolidone, N-methyl-2-pyridone and glycerol, possessing the similar chemical properties as DMSO. Most of methyl nitrogen ring-containing chemicals did not improve sequencing accuracy, whereas only glycerol mimicked the positive effect of DMSO by the same extent. In the present study, we suggest that the treatment of DMSO improve cycle sequencing by the alteration of structural conformation of GC-rich DNA template.
Base Composition ; DNA/chemistry* ; Dimethyl Sulfoxide/pharmacology* ; Plasmids/genetics ; Polymerase Chain Reaction/methods* ; Sequence Analysis, DNA* ; Solvents/pharmacology ; Solvents/chemistry ; Templates

Extra-anatomic bypass(EAB) is defined as bypass grafts that pass through a significantly different anatomic pathway than the natural blood vessles they replace. The two categorical reasons for doing this in aortoiliac occlusive disease are to avoid "hostile" intra-abdominal pathologic features and to avoid the high risk of transabdominal reconstruction in patients with serious visceral and systemic disease. To determine the application of this procedure, we reviewed retrospectively the characteristics and outcomes of 30 patients who underwent extra-anatomic bypasses during April, 1986 to April, 1997. Three EABs in brachiocephalic reconstruction were done including 2 carotid-subclavian bypass, 1 femoral-biaxillary bypass. 27 EABs in aortoiliac reconstruction were done including 22 femorofemoral bypass(FFB), 4 axillobifemoral bypass(AxBF). In the latter, EABs were used in older patients with medical comorbidities and contraindication to direct reconstructive procedures involving the abdominal aorta including aneurysms, graft infection, and trauma. One and five-year primary patency rates for entire EABs and FFB were 76.9%, 63.8% and 83.1%, 63.5%, respectively. In FFB, patients with limb- threatening ischemia proved to be inferior to those with claudication as measured by primary patency(p=0.013). Age(>65yr.), sex, smoking, medical comorbidities, duration of symtoms, preoperative angioplasty, use of externally supported graft did not influence primary patency in FFB. The 5-year patient survival rates for entire EABs and FFB were 70.4%, 67.9%. Limb salvage rates for entire EABs and FFB were 65.1%, 66.7% at 3 years. Our results suggest that strict selection of patients with limb-threatening ischemia and medical comorbidities may contribute inferior patency rate of EABs. To determine the application of EABs in aortoiliac reconstruction, the nature of intraabdominal pathology and operative risk with vascular surgeon's experience and judgement should be considered.
Aneurysm ; Angioplasty ; Aorta, Abdominal ; Comorbidity ; Humans ; Ischemia ; Limb Salvage ; Pathology ; Retrospective Studies ; Smoke ; Smoking ; Survival Rate ; Transplants

Zonisamide (ZNS) has been proven as a safe, effective, and well-tolerated antiepileptic drug. We report an epilepsy patient who had a severe, dose-dependent, memory deficit after ZNS administration. A 65-year-old man visited our epilepsy clinic due to the occurrence of nocturnal convulsions. Despite the absence of seizures, he developed a severe impairment of verbal and visual memory functions after the increment of ZNS dosage from 200 mg/day to 300 mg/day. We substituted 1,000 mg/day valproic acid for ZNS. His cognitive performances were returned to original levels.
Aged ; Epilepsy ; Humans ; Isoxazoles ; Memory ; Memory Disorders ; Seizures ; Valproic Acid

Intussusception frequently occurs in children as the main causes of intestinal obstruction in childhood but relatively rare in adult. A 65-year-old male visited our hospital because of abrupt onset right lower quadrant pain with tenderness for three days. He had a previous history of appendectomy and alcoholic liver cirrhosis. On physical exam, bowel sound was decreased. Abdomen ultrasonography showed a kidney like mass and abdominal computed tomography revealed the typical target lesion in the ileocecal area. Colonoscopy was performed which failed to find any lesion leading to intussusception. After the colonoscopy, the abdminal pain had disappeared, and we would not find any intussusception sign by abdominal ultrasonography. Colonocopy was done two weeks later. No pathologic lesion was found, then. We report a case of adult idiopathic ileocecal intussusception reduced by colonoscopy.
Abdomen ; Adult* ; Aged ; Appendectomy ; Child ; Colonoscopy* ; Humans ; Intestinal Obstruction ; Intussusception* ; Kidney ; Liver Cirrhosis, Alcoholic ; Male ; Ultrasonography

BACKGROUND AND PURPOSE: We investigated the cognitive change of patients with juvenile myoclonic epilepsy (JME) after a long-term antiepileptic drug(s) (AED) administration to clarify the cause of cognitive impairment. METHODS: Thirty-three patients with JME who were newly diagnosed or did not take any AED for at least 6 months prior to the beginning of the study were included. We conducted neuropsychological tests at baseline and after at least 12 months of AEDs trial. Forty healthy controls were acquired according to age- and education-match to patients with JME. We compared the differences of neuropsychological outcomes among them. We tried to identify the determinants for cognitive performances after AEDs trial. RESULTS: Twenty-seven patients completed the second neuropsychological tests. Seizure frequency and EEG abnormality were significantly decreased after AEDs intake. The Number of epileptiform discharges (EDs) on EEG tended to be decreased at last visit. However, cognitive performances between baseline and follow-up period were not different. Cognitive measures of baseline and follow-up period were worse than those of controls in list learning, forward digit span, backward digit span, Trail Making Test, and verbal fluency. Cognitive performances of follow-up period in the JME group were not correlated with age at seizure onset, duration of epilepsy, seizure recurrence, EEG abnormality, and type of AEDs. CONCLUSIONS: Cognitive performances of JME were not recovered to the level of healthy controls despite the control of seizures and EDs by AEDs. Therefore, cognitive impairment of JME may be due to irreversible, disease-related characteristics.
Cognition ; Electroencephalography ; Epilepsy ; Follow-Up Studies ; Humans ; Learning ; Myoclonic Epilepsy, Juvenile ; Neuropsychological Tests ; Recurrence ; Seizures ; Trail Making Test

PURPOSE: This study was conducted to evaluate the accuracy of semiquantitative tests targeting house dust mite (HDM) allergens. METHODS: Thirty-nine dust samples were collected from the homes of 14 patients. These samples were evaluated using the following semi-quantitative tests: Rapid test for Mite Allergen(R), Acarex(R), Mitey checker(R), and SD CHECK Quick Mite Test(R). The samples were then assayed by enzyme-linked immunosorbent assay (ELISA) for Der p 1, Der f 1 and group 2 allergens. Finally, the results from the 4 kits were compared and the correlation with ELISA was determined. RESULTS: Concentrations of HDM allergens determined using Acarex(R) were associated with those of SD CHECK Quick Mite Test(R) and Mitey checker(R), (P=0.004 and 0.035, respectively; rho=0.454 and 0.339, respectively). The concentrations determined by SD CHECK Quick Mite Test(R) were associated with those of Mitey checker(R) and Rapid test for Mite Allergen(R) (P=0.000 and 0.001, respectively; rho=0.664 and 0.518, respectively). There was also a significant correlation between the results obtained using Mitey checker(R) and Rapid test for Mite Allergen(R) (P=0.000, rho=0.602). The Der f 1 levels were associated with the concentrations determined by SD CHECK Quick Mite Test(R), Mitey checker(R) and Rapid test for Mite Allergen(R) (P=0.003, 0.000 and 0.005, respectively; rho=0.467, 0.544 and 0.438, respectively). Group 2 allergen levels were associated with the concentrations determined by SD CHECK Quick Mite Test(R) and Rapid test for Mite Allergen(R) (P=0.019 and 0.038, respectively; rho=0.374 and 0.334, respectively). CONCLUSION: Four popular semiquantitative test kits may be adequate for detecting HDM allergens at home. However, quality assurance is needed for clinical usage because they showed variable sensitivity and specificity.
Allergens ; Antigens, Dermatophagoides ; Arthropod Proteins ; Cysteine Endopeptidases ; Dust ; Enzyme-Linked Immunosorbent Assay ; Humans ; Mites ; Pyroglyphidae ; Sensitivity and Specificity