Our aim was to evaluate the ability to localize the epileptogenic zone in temporal lobe epilepsy (TLE) by ictal scalp electroencephalogram (EEG). Using simultaneous video recording, we analysed scalp EEG activity during ictal periods in 38 patients (30 patients with medial TLE (MTLE) and eight with lateral TLE (LTLE)). In 14 patients, intracranial ictal EEGs were recorded with depth electrodes, and simultaneous recordings of scalp and intracranial EEG were performed in 11 patients. Scalp EEG showed that, in all 30 patients with MTLE (71 of 72 seizures), an attenuation of background activity was observed before the appearance of ictal activity. Ictal discharges first appeared in the scalp EEG when the ictal discharges reached the lateral part of the temporal lobe on the intracranial EEG. While, in all eight patients with LTLE (25 of 25 seizures), the attenuation of background activity did not occur before the appearance of ictal activity. When the ictal discharges started in the lateral temporal lobe on intracranial EEG, ictal discharges appeared on the scalp. MTLE and LTLE could be diagnosed by the presence or absence of attenuation of background activity with clinical ictal signs before the appearance of ictal discharges. 相似文献
IntroductionThe prevalence of transsexualism is thought to differ among socio-geographic backgrounds, and little is known about its prevalence in Japan. Polycystic ovary syndrome (PCOS), which is known to be associated with insulin resistance and metabolic syndrome, is often seen in female-to-male (FTM) transsexual patients. Consequently, detection of PCOS is an important part of health care for these individuals.AimThe purpose of this study was to assess the prevalence of transsexuality in Japan, as well as the incidences of PCOS and insulin resistance among Japanese FTM transsexual patients.MethodsOne hundred four male-to-female (MTF) and 238 FTM Japanese transsexual patients were studied. Medical histories, including histories of menstrual cycling and hormone treatment, were taken. To exclude other diseases, such as congenital adrenal hyperplasia and hormone-secreting tumors, thorough medical assessments, including transvaginal or transrectal ultrasonography and measurement of serum hormone levels and insulin resistance indexes, were performed.Main Outcome MeasuresThe diagnosis of PCOS was based on the Rotterdam 2003 criteria.ResultsBased on demographic statistics, the prevalences of MTF and FTM transsexuality are about 3.97 and 8.20 per 100,000 people, respectively, making the MTF-to-FTM ratio about 1:2. Of the FTM transsexual patients studied, 128 had not taken hormones before their initial assessment (untreated group); the remaining 50 self-administered androgen. Among the untreated group, 32.0% were diagnosed with PCOS, 30.1% were insulin-resistant, and 31.1% showed hypoadiponectinemia.ConclusionsThe sex ratio among Japanese transsexuals is different than among Caucasians. PCOS and insulin resistance are common findings in FTM transsexual patients at initial presentation. Baba T, Endo T, Ikeda K, Shimizu A, Honnma H, Ikeda H, Masumori N, Ohmura T, Kiya T, Fujimoto T, Koizumi M, and Saito T. Distinctive features of female-to-male transsexualism and prevalence of gender identity disorder in Japan.相似文献
BACKGROUND: Familial amyloid polyneuropathy (FAP) is distributed worldwide with several endemic foci including two major foci in Japan. OBJECTIVE: To elucidate a nationwide epidemiology of FAP in Japan. DESIGN, SETTING, AND PATIENTS: (i) We analyzed the data of FAP patients registered by the Ministry of Health, Labour, and Welfare, Japan, during 2003-2005. (ii) As Ishikawa prefecture was found to be a novel endemic focus, we examined 27 FAP patients in Ishikawa to characterize their clinical and genetic features in comparison with other endemic foci. RESULTS: (i) The prevalence of familial amyloidosis in Japan was estimated to be 0.87-1.1 per 1,000,000 persons. Nagano prefecture had the highest prevalence (11-15.5), followed by Kumamoto (10.1-10.3), and then Ishikawa (3.5-4.2). (ii) All the FAP patients in Ishikawa had transthyretin (TTR) type FAP; all the families had a TTR Val30Met mutation except one family with a Leu58Arg mutation. FAP with Val30Met mutation in Ishikawa was characterized by late onset, high penetrance, and moderate autonomic dysfunction. CONCLUSIONS: Ishikawa prefecture is the third endemic focus of FAP in Japan. FAP with TTR Val30Met mutation in Japan can be classified to (i) early-onset and endemic (Nagano and Kumamoto), (ii) late-onset and endemic (Ishikawa), and (iii) late-onset and non-endemic types. 相似文献
Eplerenone, a mineralocorticoid receptor antagonist, is reported to be effective to prevent end-stage cardiovascular damage induced by aldosterone. However, the effect of eplerenone on brain damage is not fully understood. Here, we investigated whether pretreatment with eplerenone attenuates stroke size in mice subjected to middle cerebral artery occlusion. Middle cerebral artery occlusion with a microfilament technique induced focal ischemia, to approximately 25% of the total area in a coronal section of the brain. Treatment with eplerenone at a dose of 1.67 mg/g chow significantly reduced the ischemic area, ischemic volume, and neurological deficit, without a blood pressure-lowering effect. Laser-Doppler flowmetry analysis showed a decrease in surface cerebral blood flow in the peripheral region after 1 h of middle cerebral artery occlusion. This decrease was smaller in mice treated with eplerenone. Superoxide production evaluated by staining with dihydroethidium was attenuated in the ischemic area of the brain in eplerenone-treated mice. Taken together, our findings suggest that eplerenone has a protective effect on ischemic brain damage, at least partly due to improvement of cerebral blood flow in the penumbra and reduction of oxidative stress. 相似文献
In contrast to osteoblasts, little attention has been paid to the functional expression of adrenergic signaling machineries in chondrocytes. Expression of mRNA was for the first time demonstrated for different adrenergic receptor (AdR) subtypes in chondrogenic ATDC5 cells and mouse metatarsals isolated before vascularization in culture, but not for other molecules related to adrenergic signaling. In neonatal mouse tibial sections, β2AdR and α2aAdR mRNA expression was found in chondrocytes at different developmental stages by in situ hybridization. Exposure to adrenaline significantly suppressed expression of several maturation markers through the cAMP/protein kinase A pathway activated by β2AdR without affecting cellular proliferation in both cultured ATDC5 cells and metatarsals. Adrenaline also significantly inhibited gene transactivation by sry-type HMG box 9 (Sox9) family members essential for chondrogenic differentiation in a manner prevented by the general βAdR antagonist propranolol, with a concomitant significant decrease in the levels of Sox6 mRNA and corresponding protein, in ATDC5 cells and primary cultured mouse costal chondrocytes. Systemic administration of propranolol significantly promoted the increased expression of mRNA for collagen I and collagen X, but not for collagen II, in callus of fractured femur in mice. These results suggest that adrenaline may interfere with chondrogenic differentiation through downregulation of Sox6 expression for subsequent suppression of gene transactivation mediated by Sox9 family members after activation of β2AdR expressed by chondrocytes. 相似文献
Pratik P. Pandharipande, MD, MSCI; Brenda T. Pun, RN, MSN, ACNP; Daniel L. Herr, MD; Mervyn Maze, MB, ChB; Timothy D. Girard, MD, MSCI; Russell R. Miller, MD, MPH; Ayumi K. Shintani, MPH, PhD; Jennifer L. Thompson, MPH; James C. Jackson, PsyD; Stephen A. Deppen, MA, MS; Renee A. Stiles, PhD; Robert S. Dittus, MD, MPH; Gordon R. Bernard, MD; E. Wesley Ely, MD, MPH
JAMA. 2007;298(22):2644-2653.
Context Lorazepam is currently recommended for sustainedsedation of mechanically ventilated intensive care unit (ICU)patients, but this and other benzodiazepine drugs may contributeto acute brain dysfunction, ie, delirium and coma, associatedwith prolonged hospital stays, costs, and increased mortality.Dexmedetomidine induces sedation via different central nervoussystem receptors than the benzodiazepine drugs and may lowerthe risk of acute brain dysfunction.
Objective To determine whether dexmedetomidine reducesthe duration of delirium and coma in mechanically ventilatedICU patients while providing adequate sedation as compared withlorazepam.
Design, Setting, Patients, and Intervention Double-blind,randomized controlled trial of 106 adult mechanically ventilatedmedical and surgical ICU patients at 2 tertiary care centersbetween August 2004 and April 2006. Patients were sedated withdexmedetomidine or lorazepam for as many as 120 hours. Studydrugs were titrated to achieve the desired level of sedation,measured using the Richmond Agitation-Sedation Scale (RASS).Patients were monitored twice daily for delirium using the ConfusionAssessment Method for the ICU (CAM-ICU).
Main Outcome Measures Days alive without delirium or comaand percentage of days spent within 1 RASS point of the sedationgoal.
Results Sedation with dexmedetomidine resulted in moredays alive without delirium or coma (median days, 7.0 vs 3.0;P = .01) and a lower prevalence of coma (63% vs 92%;P < .001) than sedation with lorazepam. Patientssedated with dexmedetomidine spent more time within 1 RASS pointof their sedation goal compared with patients sedated with lorazepam(median percentage of days, 80% vs 67%; P = .04).The 28-day mortality in the dexmedetomidine group was 17% vs27% in the lorazepam group (P = .18) and cost of carewas similar between groups. More patients in the dexmedetomidinegroup (42% vs 31%; P = .61) were able to completepost-ICU neuropsychological testing, with similar scores inthe tests evaluating global cognitive, motor speed, and attentionfunctions. The 12-month time to death was 363 days in the dexmedetomidinegroup vs 188 days in the lorazepam group (P = .48).
Conclusion In mechanically ventilated ICU patients managedwith individualized targeted sedation, use of a dexmedetomidineinfusion resulted in more days alive without delirium or comaand more time at the targeted level of sedation than with alorazepam infusion.
Pyridoxine dependent seizure (PDS) is a disorder of neonates or infants with autosomal recessive inheritance characterized by seizures, which responds to pharmacological dose of pyridoxine. Recently, mutations have been identified in the ALDH7A1 gene in Caucasian families with PDS. To elucidate further the genetic background of PDS, we screened for ALDH7A1 mutations in five PDS families (patients 1-5) that included four Orientals. Diagnosis as having PDS was confirmed by pyridoxine-withdrawal test. Exon sequencing analysis of patients 1-4 revealed eight ALDH7A1 mutations in compound heterozygous forms: five missense mutations, one nonsense mutation, one point mutation at the splicing donor site in intron 1, and a 1937-bp genomic deletion. The deletion included the entire exon 17, which was flanked by two Alu elements in introns 16 and 17. None of the mutations was found in 100 control chromosomes. In patient 5, no mutation was found by the exon sequencing analysis. Furthermore, expression level or nucleotide sequences of ALDH7A1 mRNA in lymphoblasts were normal. Plasma pipecolic acid concentration was not elevated in patient 5. These observations suggest that ALDH7A1 mutation is unlikely to be responsible for patient 5. Abnormal metabolism of GABA/glutamate in brain has long been suggested as the underlying pathophysiology of PDS. CSF glutamate concentration was elevated during the off-pyridoxine period in patient 3, but not in patient 2 or 5. These results suggest allelic and non-allelic heterogeneities of PDS, and that the CSF glutamate elevation does not directly correlate with the presence of ALDH7A1 mutations. 相似文献