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Background: To clarify the landscape of molecular diagnoses (MDs) in early-onset epilepsy individuals, we determined the prevalent MDs stratified by age at seizure onset (SO) and the time to MD in children with SO <36 months of life. Methods: A panel of up to 302 genes associated with epilepsy was utilized and ordering physicians provided the age of SO. Diagnostic yield analyses were performed for SO ages including <1 mo, 1-2 mo, 3-5 mo, 6-11 mo, 12-23 mo, and 24-35 mo. The time to MD (MD age - SO age) was determined for the top 10 genes in each SO category. Results: 15,074 individuals with SO <36 months of life were tested. Predominant MD findings are as follows: KCNQ2 in neonates with SO at <1mo, KCNQ2 and CDKL5 for SO between 1-2 mo, PRRT2 and SCN1A for SO between 3-11 mo, and SCN1A for SO between 12-36 months. The median time to MD varied by gene. For example, there was no delay in the median time to MD for the GLDC, KCNQ2, and SCN2A genes while the median delay for MECP2, SLC2A1, and other genes was ≥ 12 months. Conclusions: These data highlight the importance of comprehensive early testing in children with early-onset epilepsy.
This collection of essays pays tribute to Nancy Freeman Regalado, a ground-breaking scholar in the field of medieval French literature whose research has always pushed beyond disciplinary boundaries. The articles in the volume reflect the depth and diversity of her scholarship, as well as her collaborations with literary critics, philologists, historians, art historians, musicologists, and vocalists - in France, England, and the United States. Inspired by her most recent work, these twenty-four essays are tied together by a single question, rich in ramifications: how does performance shape our understanding of medieval and pre-modern literature and culture, whether the nature of that performance is visual, linguistic, theatrical, musical, religious, didactic, socio-political, or editorial? The studies presented here invite us to look afresh at the interrelationship of audience, author, text, and artifact, to imagine new ways of conceptualizing the creation, transmission, and reception of medieval literature, music, and art.
EGLAL DOSS-QUINBY is Professor of French at Smith College; ROBERTA L. KRUEGER is Professor of French at Hamilton College; E. JANE BURNS is Professor of Women's Studies and Adjunct Professor of Comparative Literature at the University of North Carolina, Chapel Hill.
Contributors: ANNE AZÉMA, RENATE BLUMENFELD-KOSINSKI, CYNTHIA J. BROWN, ELIZABETH A. R. BROWN, MATILDA TOMARYN BRUCKNER, E. JANE BURNS, ARDIS BUTTERFIELD, KIMBERLEE CAMPBELL, ROBERT L. A. CLARK, MARK CRUSE, KATHRYN A. DUYS, ELIZABETH EMERY, SYLVIA HUOT, MARILYN LAWRENCE, KATHLEEN A. LOYSEN, LAURIE POSTLEWATE, EDWARD H. ROESNER, SAMUEL N. ROSENBERG, LUCY FREEMAN SANDLER, PAMELA SHEINGORN, HELEN SOLTERER, JANE H. M. TAYLOR, EVELYN BIRGE VITZ, LORI J. WALTERS, AND MICHEL ZINK.
This paper focuses on the design of a cascade within a cold stream thrust reverser during the early, conceptual stage of the product development process. A reliable procedure is developed for the exchange of geometric and load data between a two dimensional aerodynamic model and a three dimensional structural model. Aerodynamic and structural simulations are carried out using realistic operating conditions, for three different design configurations with a view to minimising weight for equivalent or improved aerodynamic and structural performance. For normal operational conditions the simulations show that total reverse thrust is unaffected when the performance of the deformed vanes is compared to the un-deformed case. This shows that for the conditions tested, the minimal deformation of the cascade vanes has no significant affect on aerodynamic efficiency and that there is scope for reducing the weight of the cascade. The pressure distribution through a two dimensional thrust reverser section is determined for two additional cascade vane configurations and it is shown that with a small decrease in total reverse thrust, it is possible to reduce weight and eliminate supersonic flow regimes through the nacelle section. By increasing vane sections in high pressure areas and decreasing sections in low pressure areas the structural performance of the cascade vanes in the weight reduced designs, is improved with significantly reduced levels of vane displacement and stress.
The proportion of salmonella carriers among town-nesting herring gulls increased significantly from 2·1% in 1975–6 to 8·4% in 1979. The range of serotypes carried by herring gulls was similar to that causing infection in man, and it is likely that the gulls ingest these serotypes when feeding at untreated sewage outfalls on the coast. This is supported by the proportion of salmonella carriers being higher among first-year birds (9·7%) than among older birds (2·0%), as it is known that higher proportions of immature herring gulls feed on the coast. Herring gulls carrying salmonellas appeared healthy at the time of capture and at a later date it was assumed that they were not themselves infected. However, their habit of congregating in large numbers on reservoirs and rubbish tips and also at resting sites on farmland often far from feeding and roosting areas, multiplies thejpollution problem and increases the potential health hazard for both man and farm stock. Herring gulls feed at a variety of sites and fly many miles from food source to food source and from feeding areas to the roost. Thus, even within the same day, there is the possibility of the transfer of salmonellas over a much wider area than previously considered.
1. Protein utilization in young men under circumstances of one or two periods of work and both adequate and surfeit energy intake was determined by nitrogen balance; protein intake was constant at the FAO/WHO (1973) safe level (0.57 g/kg body–weight).
2. Physical activity affected protein utilization negatively by increasing sweat and faecal N losses, and positively by supporting increased energy intake.
3. Efficiency with which surfeit energy improved N utilization (mg N retained/added kJ) was greater under circumstances of increased activity.
4. Changes in body composition as determined by total body potassium and hydrostatic weighing supported the N retention values.