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Cases Available (case + available)
Selected AbstractsCortical Dysplasias and Epilepsy: Multi-Institutional Survey in JapanEPILEPSIA, Issue 2000Morimi Shimada Purpose: Cortical dysplasia (CD) is a major brain malformation causing intractable epilcpsy. Neurosurgery now succcssfully controls some intractable epilepsies associated with CD. In this study, thc incidence 11 epilepsy and thc frequency of seizurcs were analyzed in different types 01 CD. Methods: This study, supported by a rcse;lrch grant from the Ministry of Health and Wellare of Japan, is part of a research project on the clinical presentation and pathogcnesis of brain dysgenesis. Questionnaires regarding the type of CD, family and pact historics, clinical signs and symptoms and their severity were distributed to I200 institutions comprising child neurologists or pediatricians. CDs werc classified into following 6 types; lissencephaly (agyria-pachygyria spcctrum), cobblestone lissencephaly, polymicrogyria including schizencephaly and hilateral perisylvian syndrome, diffuse heterotopia, focal heterotopia, and hemiinegalencephaly. All patients who had been diagnoscd as CD either by MRI, CT, autopsy or histological cxamination at or after surgical treatment wcre included. Diagnosis of CD by CT or MRI was mainly made by a radiologist, child neurologist, or pediatrician. Double classification was corrected. Epilepsy was classified according to criteria of the ILEA. Seizure frcquencies wcre recorded. Results: A total or 676 cases from 328 institutions was availablc, and distributed as follows: 277 of lissencephaly, I48 of cobblestone lissencephaly (10 cases of Walkcr-Warburg syndrome and 138 Fukuyaina type congcnital muscular dystrophy), I30 of polymicrogyria, 40 of diffuse heterotopia (24 subcortical band hetcrotopia and I6 perivcntricular nodular hcterotopia), 37 of focal heterotopia, and 44 of hemimegalencephaly. In 130 cases of polymicrogyria, 13 cases of bilatcral perisylvian syndrome, and 38 cases of schizencephaly were includcd. Of 667 cases available for study, 500 (75.0%) had epilepsy in which generalized epilepsy including West and Lcnnox syndromes comprised 54.1 % and localization-related epilepsies comprised 46.7%. Thc frequency of seizures could be ascertained in 455 cases, of which 36.0% had daily seizures, and I I .4%) had more than onc seizure per week. The incidencc of epilepsy in cach type of CD was as follows: 86% inlissencephaly, 50% in cobblestone lissencephaly (patients with WalkcrWarburg syndrome had epilepsy in 90%, whercas those with Fukuyama type congenital muscular dystrophy had epilepsy in 46.7%), 71.3% in polymicrogyria, 77.5% in diffusc hetcrotopia (9 1.7% in subcortical band heterotopia and 56.2% in periventricular nodular heterotopia), 74.3% in focal heterotopia, and 93.2% in hemimegalcncephaly. Conclusion: As recent investigations have reported, this study confirmed the high incidence of intractable cpilepsy in CDs. Epilepsy was more prevalcnt in cases with subcortical heterotopia than i n cascs with periventricular nodular helcrotopia. Thc incidcnce or epilepsy was also higher in the focal hcterotopias located subcortically than those dccper in white matter or in the periventricular region. Thcse differences in incidence of epilepsy depending on the location of hcterotopia may give somc clues to the nature of epileptogenesis in CD. [source] Categorizing immunoflourescence mapping in epidermolysis bullosa with pyloric atresia: Use as a broad prognostic indicatorAUSTRALASIAN JOURNAL OF DERMATOLOGY, Issue 3 2010John W Frew ABSTRACT Epidermolysis bullosa with pyloric atresia is a form of junctional epidermolysis bullosa associated with gastrointestinal abnormalities, which may include pyloric atresia. Genotype phenotype correlation is poorly understood and prognosis is difficult, if not impossible, to predict. Immunoflourescence mapping is an ideal candidate for developing a broad prognostic indicator for epidermolysis bullosa with pyloric atresia without the need for genetic mutation analysis. However, the tool developed in this paper does have limitations due to the small number of cases available and the effects of deleterious mutations in highly conserved cysteine residues on the predicted length of survival. [source] Effect of phacoemulsification on the primary open angle glaucoma control after trabeculectomy: a case-control studyACTA OPHTHALMOLOGICA, Issue 2009S AZIZ Purpose In this retrospective and comparative study, we analyzed the influence of phacoemulsification (PE) on the glaucoma control in case patients (trabeculectomy-phacoemulsification [CE]) compared with the control that underwent trabeculectomy (T) alone in eyes with primary open angle glaucoma (POAG). Methods Twenty one patients who underwent PE subsequent to T were identified, and 41 who underwent T alone were matched. Visual acuity (VA), intraocular pressure (IOP), bleb appearance, vertical cup disc ratio (VCDR), visual field (VF), glaucoma medications, iris manipulation and complications were documented. Mean follow up was 12 months. Success was defined when IOP , 21 mmHg with the abscense of glaucoma medication and/or further surgical intervention. Results Patients in CE group had no significant change in IOP from pre-operative measures to 12 months post-operative (p=0.001). The mean IOP reduced from 15.3 mm Hg to 14.7 mmHg postoperatively. The control group showed an average IOP reduction of 6 mm Hg in the last visit. In CE group, 19% required 1 or 2 glaucoma medications at one year fellow-up vs 19.5% in the control group. In CE group 9.5% showed flattening of previously formed bleb in the last visit (P<0.001), 9.7 % ended with flat bleb in the T group. The increase in VCDR for the CE group was statistically significant when compared to the control group (p<0.001). Patients in CE group were more likely to exhibit a change in VF (47.6% versus 7.3% respectively). The study is limited by the small number of cases available. Conclusion Corneal PE in eyes with filtering blebs does not adversely affect long-term glaucoma control in patients with POAG. [source] Absolute configuration determination of chiral molecules in the solution state using vibrational circular dichroismCHIRALITY, Issue 9 2003Teresa B. Freedman Abstract Advances in the measurement, calculation, and application of vibrational circular dichroism (VCD) for the determination of absolute configuration are described. The purpose of the review is to provide an up-to-date perspective on the capability of VCD to solve problems of absolute stereochemistry for chiral molecules primarily in the solution state. The scope of the article covers the experimental methods needed for the accurate measurement of VCD spectra and the theoretical steps required to systematically deduce absolute configuration. Determination of absolute configuration of a molecule by VCD requires knowledge of its conformation or conformational distribution, and hence VCD analysis necessarily provides solution-state conformation information, in many cases available by no other method, as an additional benefit. Comparisons of the advantages and limitations of VCD relative to other available chiroptical methods of analysis are also presented. Chirality 15:743,758, 2003. © 2003 Wiley-Liss, Inc. [source] | ||||||||||