SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome.

BACKGROUND Congenital long-QT syndrome (LQTS) is potentially lethal secondary to malignant ventricular arrhythmias and is caused predominantly by mutations in genes that encode cardiac ion channels. Nearly 25% of patients remain without a genetic diagnosis, and genes that encode cardiac channel regulatory proteins represent attractive candidates. Voltage-gated sodium channels have a pore-forming alpha-subunit associated with 1 or more auxiliary beta-subunits. Four different beta-subunits have been described. All are detectable in cardiac tissue, but none have yet been linked to any heritable arrhythmia syndrome. METHODS AND RESULTS We present a case of a 21-month-old Mexican-mestizo female with intermittent 2:1 atrioventricular block and a corrected QT interval of 712 ms. Comprehensive open reading frame/splice mutational analysis of the 9 established LQTS-susceptibility genes proved negative, and complete mutational analysis of the 4 Na(vbeta)-subunits revealed a L179F (C535T) missense mutation in SCN4B that cosegregated properly throughout a 3-generation pedigree and was absent in 800 reference alleles. After this discovery, SCN4B was analyzed in 262 genotype-negative LQTS patients (96% white), but no further mutations were found. L179F was engineered by site-directed mutagenesis and heterologously expressed in HEK293 cells that contained the stably expressed SCN5A-encoded sodium channel alpha-subunit (hNa(V)1.5). Compared with the wild-type, L179F-beta4 caused an 8-fold (compared with SCN5A alone) and 3-fold (compared with SCN5A + WT-beta4) increase in late sodium current consistent with the molecular/electrophysiological phenotype previously shown for LQTS-associated mutations. CONCLUSIONS We provide the seminal report of SCN4B-encoded Na(vbeta)4 as a novel LQT3-susceptibility gene.

Agat‘angełos

The Encyclopedia of the Medieval Chronicle brings together the latest research in chronicle studies from a variety of disciplines and scholarly traditions. Chronicles are the history books written and read in educated circles throughout Europe and the Middle East in the Middle Ages. For the modern reader, they are important as sources for the history they tell, but equally they open windows on the preoccupations and self-perceptions of those who tell it. Interest in chronicles has grown steadily in recent decades, and the foundation of a Medieval Chronicle Society in 1999 is indicative of this. Indeed, in many ways the Encyclopedia has been inspired by the emergence of this Society as a focus of the interdisciplinary chronicle community. The Encyclopedia fills an important gap especially for historians, art historians and literary scholars. It is the first reference work on medieval chronicles to attempt this kind of coverage of works from Europe, North Africa and the Middle East over a period of twelve centuries. 2564 entries and 65 illustrations describe individual anonymous chronicles or the historical oeuvre of particular chroniclers, covering the widest possible selection of works written in Latin, English, French, Spanish, German, Dutch, Norse, Irish, Hebrew, Arabic, Greek, Syriac, Church Slavonic and other languages. Leading articles give overviews of genres and historiographical traditions, and thematic entries cover particular features of medieval chronicles and such general issues as authorship and patronage, as well as questions of art history. Textual transmission is emphasized, and a comprehensive manuscript index makes a useful contribution to the codicology of chronicles.

Investigations on an egyptian coffin and mummified head from Burgdorf Museum, Switzerland - A case of a historical puzzle

In the Burgdorf Museum of Ethnology, a mummy rests in a coffin. According to the inventory book, it was purchased from the Cairo Egyptian museum in 1926. The coffin was now examined by Egyptologists and the mummy was radiocarbon dated and examined by Anthropologists. The aim of the study was to compare the results and to check whether mummy and coffin actually belong together. The skull was examined morphological-anthropologically and by CT as a “blank sample”. Coffin and skull imply that the individual was female. The coffin dates to the Ptolemaic period. Only skull bones are preserved, the ethmoid is damaged. CT images Show resinous substances, bone fragments and brain remnants inside the skull. The ethmoid bone was probably foraminated during the mummification process and thus ended up inside the skull. The individual was mummified between the New Kingdom and the Ptolemaic period. Due to its style, it is most probable that the coffin comes from the Gamhud necropolis. The Burgdorf museum of ethnology inventory book chronicles were largely falsified by the examinations. There is a time gap between coffin and the mummy, there are two possible interpretations: the body was mummified with older linen, or the mummy and the coffin do not belong together. The authors strongly advise further investigations.

Lake sediments as natural seismographs: A compiled record of Late Quaternary earthquakes in Central Switzerland and its implication for Alpine deformation

Central Switzerland lies tectonically in an intraplate area and recurrence rates of strong earthquakes exceed the time span covered by historic chronicles. However, many lakes are present in the area that act as natural seismographs: their continuous, datable and high-resolution sediment succession allows extension of the earthquake catalogue to pre-historic times. This study reviews and compiles available data sets and results from more than 10 years of lacustrine palaeoseismological research in lakes of northern and Central Switzerland. The concept of using lacustrine mass-movement event stratigraphy to identify palaeo-earthquakes is showcased by presenting new data and results from Lake Zurich. The Late Glacial to Holocene mass-movement units in this lake document a complex history of varying tectonic and environmental impacts. Results include sedimentary evidence of three major and three minor, simultaneously triggered basin-wide lateral slope failure events interpreted as the fingerprints of palaeoseismic activity. A refined earthquake catalogue, which includes results from previous lake studies, reveals a non-uniform temporal distribution of earthquakes in northern and Central Switzerland. A higher frequency of earthquakes in the Late Glacial and Late Holocene period documents two different phases of neotectonic activity; they are interpreted to be related to isostatic post-glacial rebound and relatively recent (re-)activation of seismogenic zones, respectively. Magnitudes and epicentre reconstructions for the largest identified earthquakes provide evidence for two possible earthquake sources: (i) a source area in the region of the Alpine or Sub-Alpine Front due to release of accumulated north-west/south-east compressional stress related to an active basal thrust beneath the Aar massif; and (ii) a source area beneath the Alpine foreland due to reactivation of deep-seated strike-slip faults. Such activity has been repeatedly observed instrumentally, for example, during the most recent magnitude 4.2 and 3.5 earthquakes of February 2012, near Zug. The combined lacustrine record from northern and Central Switzerland indicates that at least one of these potential sources has been capable of producing magnitude 6.2 to 6.7 events in the past.

What is Family Preservation and Why Does it Matter?

This paper describes competing ideas about family preservation, defined both as a defined program of social services and a philosophical approach to helping troubled families. A straightforward definition has become almost impossible because the phrase has taken on so many different meanings, provoking controversy about its "real" meaning and value. Indeed, "family preservation" has become the proverbial elephant whose splendors and horrors are described with great certainty by those impressed by only one of its aspects. While skirmishes between "child savers" and "family preservers" have been part of the child welfare field since its beginning at the turn of the last century, recent debates over family preservation have been especially heated, generating more confusion and animosity than might be expected from the ranks of the small and usually mild-mannered social work profession. The debate is so heated that the director of one of the nation's largest child welfare agencies said recently that he is afraid to "even use the two words on the same page." <1> While the debate about the value of family preservation is unresolved, experimentation with different approaches to service delivery over the last two decades has helped to lay the groundwork for a resurgence of interest in family and community-centered reforms. Better understanding of the family preservation "debates" may be helpful if these reforms are to be successful over the long term. The paper discusses the competing ideas, values, and perceptions that have led observers to their different understandings of family preservation. It briefly chronicles the history of child welfare and examines key theories that have helped lay the groundwork for the resurgence of interest in family-centered services. It concludes with observations about how the competing values at stake in family preservation may affect the next generation of reforms.

Der mongolische Maskentanz (Tsam) in Vergangenheit und Gegenwart

Since the early 2000s the Mongolian Buddhist masked ritual dance, in the Khalkh-Mongolian language called Tsam, has been re-introduced to the Mongolian religious field. Nowadays a couple of Buddhist monasteries in Mongolia perform the Tsam once a year. This paper examines the Mongolian masked dance in its historical and contemporary aspects, with a special focus on the Khüree Tsam. It provides an overview of the Tibetan history of the masked ritual dance and its historical Mongolian developments, as well as an ethnographic study of the 2009 performance of the Khüree Tsam in Dashchoilin monastery of Ulaanbaatar. Whereas the historical part of this paper draws on Tibetan and Mongolian dance manuals and chronicles, the ethnographic part is methodologically based on participant observation, expert and semi-structured interviews. Finally, the paper discusses the changes and adaptations the Khüree Tsam underwent within and outside the monastic context in today’s Mongolia.

First thoughts on surface tonal patterns in Amawaka, a Panoan language of Peru and Brazil

Amawaka ([ɑmɨ̃ˈwɐkɑ]) is a highly endangered and underdocumented tonal language of the Headwaters (Fleck 2011) subgroup of the Panoan family in the Southwest Amazon Basin, spoken by approximately 200 people. Undocumented phonetic and phonological phenomena of Amawaka include its tonal structure, both in terms of surface realizations and the patterns underlying these realizations. Original audiovisual data from the author’s fieldwork in various Amawaka communities at the Peru-Brazil border will illuminate the as-yet obscure tonal systematicity of the language. Unlike other elements, monosyllabic bimoraic phonological nominal words with long vowels display variation in their surface realization. All the words with the open back unrounded /ɑ/, like /ˈkɑ̀:/ (patarashca, a traditional Amazonian dish), /ˈnɑ̀:/ “mestizo” etc. [with the exception of /ˈtɑ:/ “reed”, which surfaces with either a H or L tone] bear a low tone in isolation. This realization contrasts with all the encountered nominal monosyllables with vowels from the close and close-mid front and central spectrum /i, ɘ, ɨ, ɨ̃/, which clearly surface as high tone words in isolation, for example /ˈmɨ̃́:/ (a clay-lick for animals), /ˈwí:/ “Anopheles, spp. mosquito”. Monosyllables with close-mid back rounded /o/ have a less restrictive pitch that varies among speakers from low to high realizations, and sometimes even across the speech tokens from an individual speaker, e.g. /wó:/ or /wō:/ “hair”, /ɧō:/ or /ɧò:/ (a type of tarantula). Phrasal tonal phonology is more complex, when these three kinds of monosyllables appear in larger noun phrases. Some retain the same surface tones as their isolation form, while others seem to vary freely in their surface realization, e.g. /ˈtɘ́:.nɑ̀:/ or /ˈtɘ́:.nɑ́:/ ‘one mestizo’. Yet other monosyllables, e.g. /mɑ̀:/, exhibit a falling tone when preceded by a H syllable, suggesting probably latent tone sandhi phenomena, e.g /ˈtɘ́:.mɑ̂:/ (one clay-lick for parrots). In disyllabic, trisyllabic and quadrisyllabic nouns, tonal and stress patterns generally seem to be more consistent and tend to be retained both in isolation and in larger intonational phrases. Disyllabic nouns, for instance, surface as L-H or L-L when a glottal stop is in coda position. The association of L with a glottal stop is a feature that occurs in other Panoan languages as well, like Capanahua (Loos 1969), and more generally it is an areal feature, found in other parts of Amazonia (Hyman 2010). So, tone has significant interactions with the glottal stop and glottalization, which generally co-occurs with L. The data above suggest that the underlying tonal system of Amawaka is much more complex than the privative one-tone analysis (/H/ vs. Ø, i.e. lack of tone) that was proposed by Russell and Russell (1959). Evidence from field data suggests either an equipollent (Hyman 2010) two-tone opposition between /H/ and /L/, or a hybrid system, with both equipollent and privative features; that is, /H/ vs. /L/ vs. either Ø or /M/. This first systematic description of Amawaka tone, in conjunction with ongoing research, is poised to address broader questions concerning interrelationships between surface/underlying tone and other suprasegmental features, such as nasality, metrical stress, and intonation. References Fleck, David W. 2011. Panoan languages and linguistics. In Javier Ruedas and David W. Fleck (Eds.), Panoan Histories and Interethnic Identities, To appear. Hyman, Larry. 2010. Amazonia and the typology of tone systems. Presented at the conference Amazonicas III: The structure of the Amazonian languages. Bogotá. Loos, Eugene E. 1969. The phonology of Capanahua and its grammatical basis. Norman: SIL and U. Oklahoma. Russell, Robert & Dolores. 1959. Syntactotonemics in Amahuaca (Pano). Série Lingüistica Especial, 128-167. Publicaçoes do Museu Nacional, Rio de Janeiro, Brasil.

Towards an analysis of tonal patterns in Amawaka, a Panoan language of Peru and Brazil

Amawaka ([ɑmɨ̃ˈwɐkɑ]) is a highly endangered and underdocumented tonal language of the Headwaters (Fleck 2011) subgroup of the Panoan family in the Southwest Amazon Basin, spoken by approximately 200 people. Undocumented phonetic and phonological phenomena of Amawaka include its tonal structure, both in terms of surface realizations and the patterns underlying these realizations. Original audiovisual data from the author’s fieldwork in various Amawaka communities at the Peru-Brazil border will illuminate the as-yet obscure tonal systematicity of the language. Unlike other elements, monosyllabic bimoraic phonological nominal words with long vowels display variation in their surface realization. All the words with the open back unrounded /ɑ/, like /ˈkɑ̀:/ (a traditional Amazonian dish), /ˈnɑ̀:/ “mestizo” etc. [with the exception of /ˈtɑ:/ “reed”, which surfaces with either a H or L tone] bear a low tone in isolation. This realization contrasts with all the encountered nominal monosyllables with vowels from the close and close-mid front and central spectrum /i, ɘ, ɨ, ɨ̃/, which clearly surface as high tone words in isolation, for example /ˈmɨ̃́:/ (a clay-lick for animals), /ˈwí:/ “Anopheles, spp. mosquito”. Monosyllables with close-mid back rounded /o/ have a less restrictive pitch that varies among speakers from low to high realizations, and sometimes even across the speech tokens from an individual speaker, e.g. /wó:/ or /wō:/ “hair”, /ɧō:/ or /ɧò:/ (a type of tarantula). Phrasal tonal phonology is more complex, when these three kinds of monosyllables appear in larger noun phrases. Some retain the same surface tones as their isolation form, while others seem to vary freely in their surface realization, e.g. /ˈtɘ́:.nɑ̀:/ or /ˈtɘ́:.nɑ́:/ ‘one mestizo’. Yet other monosyllables, e.g. /mɑ̀:/, exhibit a falling tone when preceded by a H syllable, suggesting probably latent tone sandhi phenomena, e.g /ˈtɘ́:.mɑ̂:/ (one clay-lick for parrots). In disyllabic, trisyllabic and quadrisyllabic nouns, tonal and stress patterns generally seem to be more consistent and tend to be retained both in isolation and in larger intonational phrases. Disyllabic nouns, for instance, surface as L-H or L-L when a glottal stop is in coda position. The association of L with a glottal stop is a feature that occurs in other Panoan languages as well, like Capanahua (Loos 1969), and more generally it is an areal feature, found in other parts of Amazonia (Hyman 2010). So, tone has significant interactions with the glottal stop and glottalization, which generally co-occurs with L. The data above suggest that the underlying tonal system of Amawaka is much more complex than the privative one-tone analysis (/H/ vs. Ø, i.e. lack of tone) that was proposed by Russell and Russell (1959). Evidence from field data suggests either an equipollent (Hyman 2010) two-tone opposition between /H/ and /L/, or a hybrid system, with both equipollent and privative features; that is, /H/ vs. /L/ vs. either Ø or /M/. This first systematic description of Amawaka tone, in conjunction with ongoing research, is poised to address broader questions concerning interrelationships between surface/underlying tone and other suprasegmental features, such as nasality, metrical stress, and intonation. References Fleck, David W. 2011. Panoan languages and linguistics. In Javier Ruedas and David W. Fleck (Eds.), Panoan Histories and Interethnic Identities, To appear. Hyman, Larry. 2010. Amazonia and the typology of tone systems. Presented at the conference Amazonicas III: The structure of the Amazonian languages. Bogotá. Loos, Eugene E. 1969. The phonology of Capanahua and its grammatical basis. Norman: SIL and U. Oklahoma. Russell, Robert & Dolores. 1959. Syntactotonemics in Amahuaca (Pano). Série Lingüistica Especial, 128-167. Publicaçoes do Museu Nacional, Rio de Janeiro, Brasil.

Extreme River Floods in Western Switzerland and the Lake of Constance Region in the Period Prior to Instrumental Measurements

The floods that occurred on the Aare and Rhine rivers in May 2015 and the mostly successful handling of this event in terms of flood protection measures are a good reminder of how important it is to comprehend the causes and processes involved in such natural hazards. While the needed data series of gauge measurements and peak discharge calculations reach back to the 19th century, historical records dating further back in time can provide additional and useful information to help understanding extreme flood events and to evaluate prevention measures such as river dams and corrections undertaken prior to instrumental measurements. In my PhD project I will use a wide range of historical sources to assess and quantify past extreme flood events. It is part of the SNF-funded project “Reconstruction of the Genesis, Process and Impact of Major Pre-instrumental Flood Events of Major Swiss Rivers Including a Peak Discharge Quantification” and will cover the research locations Fribourg (Saane R.), Burgdorf (Emme R.), Thun, Bern (both Aare R.), and the Lake of Constance at the locations Lindau, Constance and Rorschach. My main goals are to provide a long time series of quantitative data for extreme flood events, to discuss the occurring changes in these data, and to evaluate the impact of the aforementioned human influences on the drainage system. Extracting information given in account books from the towns of Basel and Solothurn may also enable me to assess the frequency and seasonality of less severe river floods. Finally, historical information will be used for remodeling the historical hydrological regime to homogenize the historical data series to modern day conditions and thus make it comparable to the data provided by instrumental measurements. The method I will apply for processing all information provided by historical sources such as chronicles, newspapers, institutional records, as well as flood marks, paintings and archeological evidence has been developed and successfully applied to the site of Basel by Wetter et al. (2011). They have also shown that data homogenization is possible by reconstructing previous stream flow conditions using historical river profiles and by carefully observing and re-constructing human changes of the river bed and its surroundings. Taken all information into account, peak discharges for past extreme flood events will be calculated with a one-dimensional hydrological model.

Inconfidencia (el Aleijadinho) de Abelardo Arias y correspondencia arte-religiosidad

En el año 1979, Abelardo Arias publica su segunda novela de base histórica titulada Inconfidencia (El Aleijadinho), la cual recrea el Brasil imperial de fines del siglo XVIII, ámbito que dio a luz a ese extraño genio de la plástica que fue el mestizo Antonio Francisco de Lisboa, "el Aleijadihno ". Arias elude la facilidad de la biografia novelada y logra acercarse al escultor leproso desde su propia tensión de artista. Comprende, por ello, su tortuosa vida de marginado y hombre desengañado del amor, que vuelca su existencia a la creación estética. La relación que el Aleijadihno tiene con su obra, oscilante entre la exaltación religiosa y la pasión amorosa, nos lleva a estudiar en profundidad las líneas de tensión en torno de la correspondencia entre arte mayor y religiosidad. Como señala Abel Posse al respecto: "El gran artista (el Aleijadihno) tiende a fundar su obra alrededor de un weltanschaung o cosmovisión total y esta ambición lo acerca al mundo religioso y a la especulación metafisica ". La obra, por lo tanto, desarrolla una silenciosa agonia existencial y religiosa, el combate callado de un "alejado ", de un condenado a muerte.

Eugenio María de Hostos en el Cono Sur

Abordaremos un tramo del pensamiento de Eugenio María de Hostos correspondiente a su estancia en el Cono Sur, particularmente en Argentina durante su peregrinación por América. Trabajamos sobre la producción periodística comprendida entre los años 1870 y 1873 en diarios de Chile y Argentina. En dichos textos puede apreciarse el desarrollo de dos líneas temáticas convergentes: la primera dedicada al seguimiento de los hechos que se suceden en las Antillas, en particular la lucha de Cuba por su independencia; la segunda comprende una importante cantidad de crónicas y comentarios sobre la vida y el desarrollo sociocultural de los países que visita. Son temáticas convergentes pues ambas están orientadas en el sentido de un proyecto modernizador, tendiente a unir la causa antillana a la causa de la civilización de los pueblos hermanos de América. En esta perspectiva, la modernización impulsada por Hostos adquiere tonalidades y acentuaciones especiales.

O subtexto do Chanceler Pero Lopez de Ayala na Crônica de D. João I de Fernão Lopes referente ao biênio de 1383-1384 : autoridade e desafio

El intento del artículo es percibir cómo el cronista portugués Fernão Lopes (1385-1460) se apropia, en el último texto suyo, del discurso del castellano Pero Lopez de Ayala (1332-1407) en la Crónica de D. Juan I. La parte elegida para el examen fue el bienio de 1383-1384, antes, por lo tanto, de la Batalla de Aljubarrota (1385). La comparación de las crónicas citadas todavía ya fue realizada por investigadores renombrados, sin embargo mi trabajo sigue el camino por la reducción de escala, o sea, por un análisis interpretativo de un bienio especifico, con la finalidad de iniciar un análisis más abarcador del rasgo de la crónica medieval ibérica medieval, objeto de mi presente pesquisa.

Mariátegui, Vallejo y la literatura peruana

Para enriquecer y superar la comprensión eurocéntrica histórica del fenómeno americano es preciso indagar en la reflexión que sobre éste realizan los propios pensadores de América. En este ocasión, nuestra particular elección ha recaído en José Carlos Mariátegui (1895-1930) y su obra Siete ensayos de interpretación de la realidad peruana (1928). Si bien su pensamiento fue poco formal, estuvo enriquecido por intuiciones y observaciones que aún esperan su oportunidad de tener un papel activo en la interpretación de nuestra cultura. Este trabajo se centra en la visión de la literatura peruana a partir de los aportes desde variadas perspectivas que realiza Mariátegui. Si bien parte de un método interpretativo relativamente rígido -materialista, economicista, historicista, lógico-dialéctico-, su obra tiene toda la amplitud crítica y la profundidad existencial que le da su posición privilegiada de observador y partícipe de los procesos políticos y sociales de la vida peruana. En sus comentarios sobre la literatura peruana, Mariátegui destaca el papel de Cesar Vallejo quien, nacido y criado en la sierra peruana, es el primer poeta capaz de representar a la nación con sus dos mundos: el mundo indio y el mundo mestizo. De esta manera, el pensamiento de Mariátegui nos ayuda a entender el carácter de la literatura peruana desde una novedosa y diferente perspectiva.

Memoria, identidad y prosa poética en la voz mestiza del narrador de Ursúa

El artículo desentraña los mecanismo técnicos y ficcionales utilizados por el autor de la novela Ursúa para lograr la construcción de un narrador que asume, desde su condición de mestizo, el rescate de la memoria del conquistador Pedro de Ursúa, la configuración de su propia identidad y la enunciación de América a través de la palabra poética que descubre, y describe el paisaje natural y humano del nuevo continente, mediante un enfoque narrativo contemporáneo que inscribe la obra dentro de la denominada nueva novela histórica latinoamericana.

Modelos de representación de los actores subalternos en las crónicas del viaje a Europa de principios de siglo XX : Rubén Darío y Manuel Ugarte

Analizamos crónicas del viaje a Europa publicadas en los primeros años del siglo XX por Rubén Darío y Manuel Ugarte. Comparamos en las obras España contemporánea (1901) y Crónicas del bulevard (1902) modalidades de representación de formas de subjetividad subalternas, adoptamos como eje de nuestra lectura la concepción que en cada caso se establece del cambio social y de la función de la literatura.