Natural course of pontocerebellar hypoplasia type 2A

INTRODUCTION Pontocerebellar hypoplasia Type 2 (PCH2) is a rare autosomal recessive condition, defined on MRI by a small cerebellum and ventral pons. Clinical features are severe developmental delay, microcephaly and dyskinesia.Ninety percent carry a p.A307S mutation in the TSEN54-gene. Our aim was to describe the natural course including neurological and developmental features and other aspects of care in a homogeneous group of PCH2 patients all carrying the p.A307S mutation. PATIENTS AND METHODS Patients were recruited via the German patients' organizations. Inclusion criteria were imaging findings of PCH2 and a p.A307S mutation. Data were collected using medical reports and patient questionnaires discussed in a standardized telephone interview. RESULTS Thirty-three patients were included. When considering survival until age 11 years, 53% of children had died Weight, length and head circumference, mostly in the normal range at birth, became abnormal, especially head circumference (-5.58 SD at age 5 yrs). Neurologic symptoms: Choreathetosis was present in 88% (62% with pyramidal signs), 12% had pure spasticity. Epileptic seizures were manifest in 82%, status epilepticus in 39%. Non-epileptic dystonic attacks occurred in 33%. General symptoms: feeding difficulties were recorded in 100%, sleep disorder in 96%, apneas in 67% and recurrent infections in 52%; gastroesophageal reflux disease was diagnosed in 73%, 67% got percutaneous endoscopic gastrostomy and 36% a Nissen-fundoplication. Neurodevelopmental data: All children made progress, but on a low level: such as fixing and following with the eyes was seen in 76%, attempting to grasp objects (76%), moderate head control (73%), social smile (70%), rolling from prone to supine (58%), and sitting without support (9%). Ten percent lost achieved abilities on follow-up. The presence of prenatal symptoms did not correlate with outcome. CONCLUSION Phenotype of this genetically homogeneous group of PCH2 children was severe with reduced survival, but compatible with some developmental progress. Our data support the hypothesis of an early onset degeneration which thereafter stabilizes.

Na 1 Nachlass Max Horkheimer, 608 - Vorlesung: "Geschichte der neueren Philosophie" 1 (p. VIII 7, 2a.1 - VIII 7, 2a.4)

Vorlesungsskript, Typoskript mit eigenhändigen Korrekturen, Heft 1-4 (GS 9, S.11-480);

Na 1 Nachlass Max Horkheimer, 609 - Vorlesung: "Geschichte der neueren Philosophie" 2 (p. VIII 7, 2a.5 - VIII 7, 2a.9)

Vorlesungsskript, Typoskript mit eigenhändigen Korrekturen (GS 9, S.11-480);

Na 1 Nachlass Max Horkheimer, 610 - Vorlesung: "Geschichte der neueren Philosophie" 3 (p. VIII 7, 2a.10 - VIII 7, 2a.14)

Vorlesungsskript, Typoskript mit eigenhändigen Korrekturen (GS 9, S.11-480);

Na 1 Nachlass Max Horkheimer, 611 - Vorlesung: "Geschichte der neueren Philosophie" 4 (p. VIII 7, 2a.15 - VIII 7, 2a.19)

Vorlesungsskript, Typoskript mit eigenhändigen Korrekturen (GS 9, S.11-480);

Na 1 Nachlass Max Horkheimer, 801 - "Dialektik der Aufklärung" von Max Horkheimer und Theodor W. Adorno (p. XI 6.1 - XI 6.2a)

[GS 5, S. 13-290]. Aufzeichnungen und Entwürfe, 1939-1946; veröffentlicht in Amsterdam, 1947:; 1. "Philosophische Fragmente", published by the Institute of Social Research, New York City, 1944. Als Typoskript vervielfältigt, 320 S., gebunden; 2. Aus der "Dialektik der Aufklärung"; Kapitel: "Begriff der Aufklärung":; 2a) Typoskript mit deutschen Titel "Mythos und Aufklärung", 53 Blatt (2 Exemplare); 2b) Entwürfe und Teilstücke, Typoskript mit eigenen Korrekturen von Theodor W. Adorno, 11 Blatt; 2c) Gliederungspunkte zum Kapitel "Begriff der Aufklärung", hier noch mit dem Titel "Mythologie und Aufklärung", Typoskript mit eigenen Ergänzungen von Max Horkheimer, 3 Blatt; 2d) "Zur Frage der Grenze der Entmythologisierung", Entwurf, Typoskript mit eigenen Ergänzungen von Theodor W. Adorno, 1 Blatt; 2e) "Aufklärung mythisch", Entwurf, Typoskript mit eigenen Korrekturen und Ergänzungen, 1 Blatt; 2f) Entwurf des Anfangs des Kapitels "Begriff der Aufklärung", 1 Heft, 16 Blatt, davon 8 leer; 2g) Max Horkheimer und Theodor W. Adorno: Eigene Notizen zum Begriff der Aufklärung, 12 Blatt;

Iniciativas de acceso abierto para la conformación de repositorios institucionales. 2a. etapa: Propuesta de implementación de un espacio de la UNaM en la web. 16h253

En un entorno tecnológico donde los repositorios institucionales se han convertido en la principal forma de publicar, preservar y difundir la información digital, sustentadas en políticas de información institucionales, aún es tarea pendiente hacer visible y accesible la literatura gris, documentación fundamental para el mundo académico y de investigación denominada así por encontrarse cuasi invisible y desconocerse su existencia. A éstas dificultades se suman aquellas que se presentan a la hora de que sus autores, creadores, generadores deben ser reconocidos como tales y su autoría legalmente planteada antes de hacerla disponible mediante la implementación de un modelo de acceso abierto que permita ambas cuestiones: preservación de los derechos de autor y propiedad intelectual y libre acceso a la producción y comunicación científica institucional, académica, de investigación y divulgación. La Universidad Nacional de Misiones no es ajena a esta problemática porque no dispone de una política formal relacionada con la implementación de una biblioteca digital y repositorio institucional así como de reglamentación suficiente para atender todas las dimensiones del problema (jurídica y legal, tecnológica, institucional y social). Mediante este proyecto se pretende plantear alternativas de solución a la problemática de la producción documental institucional, proponiendo el diseño de la biblioteca digital UNaM que asegure la visibilidad y la accesibilidad de la producción académica y administrativa producida en la Universidad mediante la elaboración de la guía metodológica que prefigure este espacio con vistas a ser transferible a otros ámbitos institucionales.

Castaño, Sergio Raúl. Los principios políticos de Santo Tomás en entredicho. Una confrontación con Aquinas, de John Finnis. Estudio preliminar de Camilo Tale. 2a edición La Plata: Editorial de la Universidad Católica de La Plata, 2011, 110 pp.

Fil: Juri, Yamila. Universidad Nacional de Cuyo

Preliminary results and documentation of sediment cores CRP2 and CRP-2A from the Ross Sea off Cape Roberts, Antarctica

The site for CRP-2, 14 km east of Cape Roberts (77.006°S; 163.719°E), was selected to overlap the early Miocene strata cored in nearby CRP-1, and to sample deeper into the east-dipping strata near the western margin ofe he Victoria Land Basin to investigate Palaeogene climatic and tectonic history. CRP-2 was cored from 5 to 57 mbsf (metres below the sea floor) (core recovery 91 %), with a deviation resulting in CRP-2A being cored at the same site. CRP-2A reached down to 624mbsf (recovery 95%), and to strata with an age of c. 33-35 Ma. Drilling took place from 16 October to 25 November 1998, on 2.0-2.2 m of sea ice and through 178 m of water. Core fractures and other physical properties, such as sonic velocity, density and magnetic susceptibility, were measured throughout the core. Down-hole logs for these and other properties were run from 63 to 167 mbsf and subsequently from 200 to 623 mbsf, although density and velocity data could be obtained only to 440 mbsf because of hole collapse. Sonic velocity averages c. 2.0 km S-1 for the upper part of the hole, but there is an sharp increase to c. 3.0 km s-1 and also a slight angular unconformity, at 306 mbsf, corresponding most likely to the early/late Oligocene boundary (c. 28-30 Ma). Velocity then increases irregularly to around 3.6 km s-1 at the bottom of the hole, which is estimated to lie 120 m above the V4/V5 boundary. The higher velocities below 306 mbsf probably reflect more extensive carbonate and common pyrite cementation, in patches, nodules, bedding-parallel masses and as vein infills. Dip of the strata also increases down-hole from 3° in the upper 300 in to over 10° at the bottom. Temperature gradient is 21° k-1. Over 2 000 fractures were logged through the hole. Borehole televiewer imagery was obtained for the interval from 200 to 440 mbsf to orient the fractures for stress field analysis. Lithostratigraphical descriptions on a scale of 1:20 are presented for the full length of the core, along with core box images, as a 200 page supplement to this issue. The hole initially passed through a layer of muddy gravel to 5.5 mbsf (Lithological Sub-Unit or LSU 1.1), and then into a Quaternary diatom-bearing clast-rich diamicton to 21 mbsf (LSU 2. l), with an interval of alternating compact diamicton and loose sand, and containing a rich Pliocene foraminiferal fauna, to 27 mbsf (LSU 2.2). The unit beneath this (LSU 3.1) has similar physical properties (sonic velocity, porosity, magnetic susceptibility) and includes diamictites of similar character to those of LSU 2.1 and 2.2, but an early Miocene (c. 19 Ma) diatom assemblage at 28 mbsf (top of LSU 3.1) shows that this sub-unit is part of the older section. The strata beneath 27 mbsf, primary target for the project, extend from early Miocene to perhaps latest Eocene age, and are largely cyclic glacimarine nearshore to offshore sediments. They are described as 41 lithological sub-units and interpreted in terms of 12 recurrent lithofacies. These are 1) mudstone, 2) inter-stratified mudstone and sandstone, 3) muddy very fine to coarse sandstone, 4) well-sorted stratified fine sandstone, 5) moderately to well-sorted, medium-grained sandstone, 6) stratified diamictite, 7) massive diamictite, 8) rhythmically inter-stratified sandstone and mudstone, 9) clast-supported conglomerate, 10) matrix-supported conglomerate, 11) mudstone breccia and 12) volcaniclastic sediment. Sequence stratigraphical analysis has identified 22 unconformity-bounded depositional sequences in pre- Pliocene strata. They typically comprise a four-part architecture involving, in ascending order, 1) a sharp-based coarse-grained unit (Facies 6,7,9 or 10), 2) a fining-upward succession of sandstones (Facies 3 and 4), 3) a mudstone interval (Facies l), in some cases coarsening upward to muddy sandstones (Facies 3), and 4) a sharp-based sandstone dominated succession (mainly Facies 4). The cyclicity recorded by the strata is interpreted in terms of a glacier ice margin retreating and advancing from land to the west, and of rises and falls in sea level. Analysis of sequence periodicity awaits afirmer chronology. However, apreliminary spectral analysis of magnetic susceptibility for a deepwater mudstone within one of the sequences (from 339 to 347 mbsf) reveals ratios between hierarchical levels that are similar to those of the three Milankovitch orbital forcing periodicities. The strata contain a wide range of fossils, the most abundant being marine diatoms. These commonly form up to 5% of the sediment, though in places the core is barren (notably between 300 and 412 mbsf). Fifty samples out of 250 reviewed were studied in detail. The assemblages define ten biostratigraphical zones, some of them based on local or as yet undescribed forms. The assemblages are neritic, and largely planktonic, suggesting that the sea floor was mostly below the photic zone throughout deposition of the corcd sequence. Calcareous nannofossils, representing incursions of ocean surface waters, are much less common (72 out of 183 samples examined) and restricted to mudstone intervals a few tens of metres thick, but are important for dating. Foraminifera are also sparse (73 out of 135 samples) and represented only by calcareous benthic species. Changing assemblages indicate a shift from inshore environments in the early Oligocenc to outer shelf in the late Oligocenc, returning to inshore in the early Miocene. Marine palynomorplis yielded large numbers of well-preserved forms from most of the 116 samples examined. The new in situ assemblagc found last year in CRP-1 is extended down into the late Oligocene and a further new assemblage is found in the early Oligoccnc. Many taxa are new, and cannot us yet contribute to an improved understanding of chronology or ecology. Marine invertebrate macrofossils, mostly molluscs and serpulid tubes, are scattered throughout the core. Preservation is good in mudstones but poor in other lithologies. Climate on land is reflected in the content of terrestrial palynomorphs, which are extremely scarce down to c. 300 mbsf. Some forms are reworked, and others represent a low growing sparse tundra with at least one species of Nothofagus. Beneath this level, a significantly greater diversity and abundance suggests a milder climate and a low diversity woody vegetation in the early Oligocene, but still far short of the richness found in known Eocene strata of the region. Sedimentary facies in the oldest strata also suggest a milder climate in the oldest strata cored, with indications of substantial glacial melt-water discharges, but are typical of a coldcr climate in late Oligocene and early Miocene times. Clast analyses from diamictites reveal weak to random fabrics, suggesting either lack of ice-contact deposition or post-depositional modification, but periods when ice grounded at the drill site are inferred from thin zones of in-situ brecciated rock and soft-sediment folding. These are more common above c. 300 mbsf, perhaps reflecting more extensive glacial advances during deposition of those strata. Erosion of the adjacent Transantarctic Mountains through Jurassic basalt and dolerite-intruded Beacon strata into basement rocks beneath is recorded by petrographical studies of clast and sand grain assemblages. Core below 310 mbsf contains a dominance of fine-grained Jurassic dolerite and basalt fragments along with Beacon-derived coal debris and rounded quartz grains, whereas the strata above this level have a much higher proportion of basement derived granitoids, implying that the large areas of the adjacent mountains had been eroded to basement by the end of the early Oligocene. There is little indication of rift-related volcanism below 310 mbsf. Above this, however, basaltic and trachytic tephras are common, especially from 280 to 200 mbsf, from 150 to 46 mbsf, and in Pliocene LSU 2.2 from 21 to 27 mbsf. The largest volcanic eruptions generated layers of coarse (up to 1 cm) trachytic pumice lapilli between 97 and 114 mbsf. The thickest of these (1.2 m at 112 mbsf) may have produced an eruptive column extending tens of km into the stratosphere. A source within a few tens of km of the drill site is considered most likely. Present age estimates for the pre-Pliocene sequence are based mainly on biostratigraphy (using mainly marine diatoms and to a lesser extent calcareous nannofossils), with the age of the tephra from 112 to 114 mbsf (21.44k0.05 Ma from 84 crystals by Ar-Ar) as a key reference point. Although there are varied and well-preserved microfossil assemblages through most of the sequence (notably of diatoms and marine palynomorphs), they comprise largely taxa either known only locally or as yet undescribed. In addition, sequence stratigraphical analysis and features in the core itself indicate numerous disconformities. The present estimate from diatom assemblages is that the interval from 27 to 130 mbsf is early Miocene in age (c. 19 to 23.5 Ma), consistent with the Ar-Ar age from 112 to 114 mbsf. Diatom assemblages also indicate that the late Oligocene epoch extends from c. 130 to 307 mbsf, which is supported by late Oligocene nannofossils from 130 to 185 mbsf. Strata from 307 to 412 mbsf have no age-diagnostic assemblages, but below this early Oligocene diatoms and nannofossils have been recovered. A nannoflora at the bottom of the hole is consistent with an earliest Oligocene or latest Eocene age. Magnetostratigraphical studies based on about 1000 samples, 700 of which have so far undergone demagnetisation treatment, have provided a polarity stratigraphy of 12 pre-Pliocene magnetozones. Samples above 270 mbsf are of consistently high quality. Below this, magnetic behaviour is more variable. A preliminary age-depth plot using the Magnetic Polarity Time Scale (MPTS) and constrained by biostratigraphical data suggests that episodes of relatively rapid sedimentation took place at CRP-2 during Oligocene times (c. 100 m/My), but that more than half of the record was lost in a few major and many minor disconformities. Age estimates from Sr isotopes in shell debris and further tephra dating are expected to lead to a better comparison with the MPTS. CRP-2/2A has recorded a history of subsidence of the Victoria Land Basin margin that is similar to that found in CIROS-170 km to the south, reflecting stability in both basin and the adjacent mountains in late Cenozoic times, but with slow net accumulation in the middle Cenozoic. The climatic indicators from both drill holes show a similar correspondence, indicating polar conditions for the Quaternary but with sub-polar conditions in the early Miocene-late Oligocene and indications of warmer conditions still in the early Oligocene. Correlation between the CRP-2A core and seismic records shows that seismic units V3 and V4, both widespread in the Victoria Land Basin, represent a period of fluctuating ice margins and glacimarine sedimentation. The next drill hole, CRP-3, is expected to core deep into V5 and extend this record of climate and tectonics still further back in time.

Problemas de salud de los jornaleros tamaulipecos empleados con visas h-2a en Estados Unidos

Desde hace dos décadas los jornaleros tamaulipecos han recibido un considerable número de visas H-2A para trabajar en la agricultura en Estados Unidos. Los empleadores estadounidenses muestran una cierta preferencia por los jornaleros tamaulipecos, ya que la cercanía de Tamaulipas a la frontera disminuye los costos de transporte, que deben ser asumidos por los empleadores. Los programas de trabajadores huéspedes para mano de obra no cualificada exponen a los trabajadores foráneos al abuso y la explotación. La falta de cumplimiento con algunas regulaciones federales como el Estándar de Protección de los Trabajadores o el Seguro de Compensación Laboral incrementa el riesgo de envenenamiento por agroquímicos y accidentes entre los jornaleros, y aquellos que sufren accidentes laborales o enfermedades no reciben atención médica. Este artículo examina los problemas de salud sufridos por los trabajadores tamaulipecos empleados con visas H-2A en la agricultura estadounidense.