255 research outputs found
Sophmore Band (ca. 1915)
No full textThe Sophomore Bnd was a hazing organization of Pennsylvania College. Back Row: Tome, John S.; Monk, Thomas A..; Buehler, Martin H., Jr.; Wray, Stanley M.; Weigle, George B.; Scheffer, George E.; Front Row: Hershey, Phares R.; Rice, Statton L.;Mahaffie, James E.; Glaes, James S.; Albert, L. RoyTipton #29221; Spectrum 1916, p. 15
Thesaurus nummorum Sueo-Gothicorum : studio indefesso Eliae Brenneri L. annorum spatio collectus, secundum seriem temporum dispositus, atque e tenebris, cum commentatione in apricum prolatus ; accessit ejusdem auctoris Libellus de nummophylaciis Sveciae : de scriptoribus rei nummariae Svethicae, atque de thesauris, seu variis vetustorum nummorum cumulis, passim per Sveoniam fortuito casu repertis.
No full textAdded engraved t.p.CicognaraEdited by Nils Keder. Cf. Cat. of Biblioth eque Nationale.In addition to Elias Brenner, some plates engraved by Sartorius, Iuo. Scheffer, E. Reitz, W. Swidde.Portrait of author, engraved; devices.Libellus de nummophylaciis Sveciae.Dekesel, C.E. Bibliography of 18th century numismatic books; B 527 (Cat. 1), vol. 1, p. 888-889.Lipsius, J.G. Bibliotheca numaria ; p. 57.Europeana-GoogleBook
Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
No full textCopyright © 2009 Elsevier B.V. All rights reserved.Dravet syndrome and genetic epilepsy with febrile seizures plus (GEFS+) can both arise due to mutations of SCN1A, the gene encoding the alpha 1 pore-forming subunit of the sodium channel. GEFS+ refers to a familial epilepsy syndrome where at least two family members have phenotypes that fit within the GEFS+ spectrum. The GEFS+ spectrum comprises a range of mild to severe phenotypes varying from classical febrile seizures to Dravet syndrome. Dravet syndrome is a severe infantile onset epilepsy syndrome with multiple seizure types, developmental slowing and poor outcome. More than 70% of patients with Dravet syndrome have mutations of SCN1A; these include both truncation and missense mutations.
In contrast, only 10% of GEFS+ families have SCN1A mutations and these comprise missense mutations. GEFS+ has also been associated with mutations of genes encoding the sodium channel beta 1 subunit, SCN1B, and the GABAA receptor gamma 2 subunit, GABRG2. The phenotypic heterogeneity that is characteristic of GEFS+ families is likely to be due to modifier genes. Interpretation of the significance of a SCN1A missense mutation requires a thorough understanding of the phenotypes in the GEFS+ spectrum whereas a de novo truncation mutation is likely to be associated with a severe phenotype. Early recognition of Dravet syndrome is important as aggressive control of seizures may improve developmental outcome.Ingrid E. Scheffer, Yue-Hua Zhang, Floor E. Jansen, Leanne Dibbenshttp://www.elsevier.com/wps/find/journaldescription.cws_home/524172/description#descriptio
Susceptibility genes for complex epilepsy
No full textCopyright © The Author 2005. Published by Oxford University Press. All rights reserved.Common idiopathic epilepsies are, clinically and genetically, a heterogeneous group of complex seizure disorders. Seizures arise from periodic neuronal hyperexcitability of unknown cause. The genetic component is mostly polygenic, where each susceptibility gene in any given individual is likely to represent a small component of the total heritability. Two susceptibility genes have been so far identified, where genetic variation is associated with experimentally demonstrated changes in ion channel properties, consistent with seizure susceptibility. Rare variants and a polymorphic allele of the T-type calcium channel CACNA1H and a polymorphic allele and a rare variant of the GABA(A) receptor delta subunit gene have differential functional effects. We speculate that these and other as yet undiscovered susceptibility genes for complex epilepsy could act as 'modifier' loci, affecting penetrance and expressivity of the mutations of large effect in those 'monogenic' epilepsies with simple inheritance that segregate through large families. Discovery of epilepsy-associated ion channel defects in these rare families has opened the door to the discovery of the first two susceptibility genes in epilepsies with complex genetics. The susceptibility genes so far detected are not commonly involved in complex epilepsy suggesting the likelihood of considerable underlying polygenic heterogeneity.John C. Mulley, Ingrid E. Scheffer, Louise A. Harkin, Samuel F. Berkovic and Leanne M. Dibben
Agrostocynips diastrophi Ashmead
No full textAgrostocynips diastrophi (Ashmead) Figures 1 A–F, 2 E Diagnosis. Differs from A. clavatus by the lack of an indication of the mesoscutal keel at the anterior margin of the mesoscutum (Fig. 1 F) (distinctly present in all specimens examined of A. clavatus); from A. robusta by the larger and more elongate scutellar plate (Fig. 1 E–F) (shorter and truncated posteriorly in A. robusta, Fig. 2 C), as well as the presence of 7-8 perimeter teeth on the dorsal surface of the scutellar plate (Fig. 1 E–F) (4- 6 present in A. robusta (Fig. 2 B); further differentiated from A. robusta by the more pronounced orbital furrows on the inner margins of the eyes (Fig. 1 C) (rarely present in A. robusta). Rediscription. As in description of genus, with orbital furrows distinctly developed, running from lateral aspect of torulus to dorsal margin of malar sulcus; scutellar plate with 7-8 perimeter tubercals present on dorsal surface, usually in pairs, occasionally non-paired posteriorly; posterior margin of scutellar plate broadly rounded. Material examined. Holotype. [first label] West Point, Neb[raska], [second label, folded] Diastrophus cuscataiformis [in Ashmead’s hand], [third label] Type No. 3280 U.S. N.M., [fourth label] Ganaspis diastrophi Ashmead, type [in Ashmead’s hand]. The holotype is a male, in poor condition, consisting of only the metasoma and hind legs glued to a card point. Deposited in USNM. Additional material. Several specimens from the following US states (deposited in UCRC and USNM): Arkansas, Florida, Illinois, Iowa, Kansas, Louisiana, Maryland, Michigan, Minnesota, Missouri, Oklahoma, Pennsylvania, South Carolina, Texas, Virginia and West Virginia. Biology. Reared from the agromyzids Phytomyza sp., Phytomyza bipunctata Loew (host plant not recorded), as well as an unknown species of Agromyza on Panicum (switchgrass, Poaceae). A specimen examined in the USNM perported to be reared from Phytomyza illicola requires confirmation. At the time of that collection (1919), it was not known that the linear miner and the blotch miner on I. opaca were two different species (see Kulp 1968). Further, no figitids have been reported from studies of parasitoids of P. ilicicola in Kentucky (Potter and Gordon 1985), Delaware (Kahn and Cornell 1989), Georgia (Braman and Pendley 1993), and various locations in the eastern U.S. by the junior author (SJS, unpub. data). Distribution. Southeastern United States (see material examined) and Northeastern Mexico (data not shown).Published as part of Buffington, Matthew L. & Scheffer, Sonja J., 2008, North American species of Agrostocynips Diaz (Hymenoptera: Figitidae: Eucoilinae), parasitoids of Agromyzidae (Diptera): bionomics and taxonomy, pp. 39-48 in Zootaxa 1817 on page 43, DOI: 10.5281/zenodo.27437
Genetics of the epilepsies: Genetic twists in the channels and other tales
No full textLink to a related website: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/j.1528-1167.2009.02440.x, Open Access via UnpaywallRecent studies of the genetics of the epilepsies have identified surprising mechanisms and novel patterns of inheritance. The greatest challenge is to solve the genetics of the common idiopathic generalized epilepsies (IGEs). The common IGEs follow complex inheritance, where multiple genes are likely to contribute and environmental factors may also play a role. Little is known about the susceptibility genes contributing to complex inheritance, although there is evidence that the calcium channel subunit gene, CACNA1H, and another gene whose function is poorly understood, EFHC1, play a role (Helbig et al., 2008). In contrast, the 19 or so genes identified for idiopathic epilepsies have largely been found in monogenic epilepsies, often in large multiplex families. Most of these encode ion channels encompassing both voltage-gated and ligand-gated ion channel subunits. More recently, unexpected inheritance patterns have emerged. The most important is that a severe epileptic encephalopathy of infancy, Dravet syndrome, has turned out to be a monogenic disease. Second, an unrecognized, major group of IGEs called genetic epilepsy with febrile seizures plus (GEFS+) has become a model of ‘‘complex monogenic’’ epilepsy, exemplified in large dominant families in which genes have been found. The dominant genes are not the whole story in these families, as the heterogenous phenotypes are likely to be due to additional genetic factors. Third, the molecular basis for a fascinating novel mode of inheritance in epilepsy has been discovered for a familial epilepsy in which only females are affected. This X-linked inheritance pattern requires clinicians to think differently about the family histories they obtain.Ingrid E. Scheffer, Yue-Hua Zhang, Jozef Gecz and Leanne Dibben
Neuronal sodium-channel a1-subunit mutations in generalized epilepsy with febrile seizures plus
No full textCopyright © 2001 The American Society of Human Genetics Published by Elsevier Inc.Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by the presence of febrile and afebrile seizures. The first gene, GEFS1, was mapped to chromosome 19q and was identified as the sodium-channel beta1-subunit, SCN1B. A second locus on chromosome 2q, GEFS2, was recently identified as the sodium-channel alpha1-subunit, SCN1A. Single-stranded conformation analysis (SSCA) of SCN1A was performed in 53 unrelated index cases to estimate the frequency of mutations in patients with GEFS+. No mutations were found in 17 isolated cases of GEFS+. Three novel SCN1A mutations-D188V, V1353L, and I1656M-were found in 36 familial cases; of the remaining 33 families, 3 had mutations in SCN1B. On the basis of SSCA, the combined frequency of SCN1A and SCN1B mutations in familial cases of GEFS+ was found to be 17%.R.H. Wallace, I.E. Scheffer, S. Barnett, M. Richards, L. Dibbens, R.R. Desai, T. Lerman-Sagie, D. Lev, A. Mazarib, N. Brand, B. Ben-Zeev, I. Goikhman, R. Singh, G. Kremmidiotis, A. Gardner, G.R. Sutherland, A.L. George Jr., J.C. Mulley and S.F. Berkovichttp://www.cell.com/AJHG
Febrile seizures and generalised epilepsy associated with a mutation in the Na+-channel b1 subunit gene SCN1B
No full textCopyright © 1998 Nature America Inc.Febrile seizures affect approximately 3% of all children under six years of age and are by far the most common seizure disorder. A small proportion of children with febrile seizures later develop ongoing epilepsy with afebrile seizures. Segregation analysis suggests the majority of cases have complex inheritance but rare families show apparent autosomal dominant inheritance. Two putative loci have been mapped (FEB1 and FEB2), but specific genes have not yet been identified. We recently described a clinical subset, termed generalized epilepsy with febrile seizures plus (GEFS+), in which many family members have seizures with fever that may persist beyond six years of age or be associated with afebrile generalized seizures. We now report linkage, in another large GEFS+ family, to chromosome region 19q13.1 and identification of a mutation in the voltage-gated sodium (Na+)-channel beta1 subunit gene (SCN1B). The mutation changes a conserved cysteine residue disrupting a putative disulfide bridge which normally maintains an extracellular immunoglobulin-like fold. Co-expression of the mutant beta1 subunit with a brain Na+-channel alpha subunit in Xenopus laevis oocytes demonstrates that the mutation interferes with the ability of the subunit to modulate channel-gating kinetics consistent with a loss-of-function allele. This observation develops the theme that idiopathic epilepsies are a family of channelopathies and raises the possibility of involvement of other Na+-channel subunit genes in febrile seizures and generalized epilepsies with complex inheritance patterns.Robyn H. Wallace, Dao W. Wang, Rita Singh, Ingrid E. Scheffer, Alfred L. George, Jr., Hilary A. Phillips, Kathrin Saar, Andre Reis, Eric W. Johnson, Grant R. Sutherland, Samuel F. Berkovic & John C. Mulle
A gestão do conhecimento e o terceiro setor: um estudo de caso para o Hospital Martagão Gesteira
No full textDissertação (mestrado) - Universidade Federal de Santa Catarina, Centro Tecnológico. Programa de Pós-Graduação em Engenharia de Produção.A complexidade do mundo atual despiu a máscara da ineficiência organizacional pública e privada e revelou um outro elemento: o Terceiro Setor. A priori desorganizado e com fins basicamente filantrópicos, hoje, o compromisso com o desenvolvimento econômico socialmente sustentável, demanda competências robustas e flexíveis, que requerem novos saberes. Essa exigência estimulou o surgimento da Gestão do Conhecimento, como estratégia capaz de quebrar paradigmas e propor soluções inéditas aos antigos problemas. Nesse cenário, conhecer as variáveis que influenciam a Gestão do Conhecimento numa organização do Terceiro Setor se tornou um desafio. Visando superá-lo, foi realizado um estudo de caso no Hospital Martagão Gesteira, tendo como ferramentas a observação participativa e a entrevista semi-estruturada. A comunicação, o relacionamento interpessoal, a missão, os valores, a informação e o aprendizado foram questões levantadas, a fim de perceber a criação de um contexto capacitante. Os resultados da pesquisa foram confrontados com a revisão bibliográfica, no intuito de garantir legitimidade ao trabalho. The current world complexity has showed the public and private incapable organizational, generating The Third Sector. Nowadays, the sustainable social economy development demands flexibiliuty and wisdom. The demandings has stimulated the Knowledge Management. It was able to break the paradigms and offer solitions to the old issues. In this set, knowing the differences, which influenced the Knowledge Management, became a challenge in the Third Sector. A study was done at `Hospital Martagão Gesteira` in order to overcome it. Semistructure interview and a participative observation tools were focused. The communication, the interpersonal relationship, the mission, the values, the information ccurate context. The research results were faced to the bibliography review in order to guarantee the legitimacy in work
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