Morphological and biochemical changes in trisomy 21

Introdução: A Trissomia 21 (T21) é a aneuploidia mais comum, apresentando uma prevalência de 1/670 nascimentos. É a principal causa de défice intelectual moderado a grave, e está associada a diversas anomalias congénitas, sendo as malformações cardiovasculares as mais frequentes. O objetivo deste trabalho é caracterizar as alterações morfológicas e bioquímicas nos casos de T21. Material e Métodos: Estudo prospetivo, realizado no nosso Hospital entre 1998 e 2008, de avaliação dos casos com rastreio bioquímico considerado positivo para T21. Foram também analisados os resultados dos exames invasivos realizados no mesmo período e revistos os processos com diagnóstico de T21 neste exame, assim como os processos das mães cujos recém-nascidos foram codificados com diagnóstico de T21 na alta. Resultados: Neste período foram efetuados 12163 rastreios. Foram identificados 18 casos de T21. Houve 2 resultados falsos-negativos, representando uma taxa de deteção do rastreio de 88,9%. A mediana das MoM's dos marcadores bioquímicos nas grávidas com fetos afetados foi: 0,735 de AFP, 0,685 de µE3 e 2,54 de βHCG. Quinze dos 18 casais optaram por interromper a gravidez. Nasceram 3 recém-nascidos com T21. As anomalias presentes nos fetos afetados foram essencialmente alterações do hábito externo, nomeadamente a existência de pregas palmares transversais em uma ou ambas as mãos e alterações craniofaciais. Quanto às alterações do hábito interno as mais comuns foram as malformações cardiovasculares, nomeadamente a comunicação interventricular (CIV). Discussão: Neste estudo a taxa de deteção do rastreio foi elevada. A maioria dos casais optou por interromper a gravidez. A maioria dos fetos e recém-nascidos afetados apresentou alterações morfológicas subtis, difíceis de detetar ecograficamente, salientando a importância do rastreio bioquímico.info:eu-repo/semantics/publishedVersio

UVMag: stellar formation, evolution, structure and environment with space UV and visible spectropolarimetry

Important insights into the formation, structure, evolution and environment of all types of stars can be obtained through the measurement of their winds and possible magnetospheres. However, this has hardly been done up to now mainly because of the lack of UV instrumentation available for long periods of time. To reach this aim, we have designed UVMag, an M-size space mission equipped with a high-resolution spectropolarimeter working in the UV and visible spectral range. The UV domain is crucial in stellar physics as it is very rich in atomic and molecular lines and contains most of the flux of hot stars. Moreover, covering the UV and visible spectral domains at the same time will allow us to study the star and its environment simultaneously. Adding polarimetric power to the spectrograph will multiply tenfold the capabilities of extracting information on stellar magnetospheres, winds, disks, and magnetic fields. Examples of science objectives that can be reached with UVMag are presented for pre-main sequence, main sequence and evolved stars. They will cast new light onto stellar physics by addressing many exciting and important questions. UVMag is currently undergoing a Research and Technology study and will be proposed at the forthcoming ESA call for M-size missions. This spectropolarimeter could also be installed on a large UV and visible observatory (e.g. NASA's LUVOIR project) within a suite of instruments.Comment: Accepted in ApSS's special volume on UV astronom

Echelle long-slit optical spectroscopy of evolved stars

We present echelle long-slit optical spectra of a sample of objects evolving off the AGB, most of them in the pre-planetary nebula (pPN) phase, obtained with the ESI and MIKE spectrographs at Keck-II and Magellan-I, respectively. The total wavelength range covered with ESI (MIKE) is ~3900 to 10900 A (~3600 to 7200A). In this paper, we focus our analysis mainly on the Halpha profiles. Prominent Halpha emission is detected in half of the objects, most of which show broad Halpha wings (up to ~4000 km/s). In the majority of the Halpha-emission sources, fast, post-AGB winds are revealed by P-Cygni profiles. In ~37% of the objects Halpha is observed in absorption. In almost all cases, the absorption profile is partially filled with emission, leading to complex, structured profiles that are interpreted as an indication of incipient post-AGB mass-loss. All sources in which Halpha is seen mainly in absorption have F-G type central stars, whereas sources with intense Halpha emission span a larger range of spectral types from O to G. Shocks may be an important excitation agent of the close stellar surroundings for objects with late type central stars. Sources with pure emission or P Cygni Halpha profiles have larger J-K color excess than objects with Halpha mainly in absorption, which suggests the presence of warm dust near the star in the former. The two classes of profile sources also segregate in the IRAS color-color diagram in a way that intense Halpha-emitters have dust grains with a larger range of temperatures. (abridged)Comment: 68 pages, 14 figures, accepted for publication in ApJS (abstract abridged

GlacialWater: A Dynamic Microbial Medium

Microbial communities and nutrient dynamics in glaciers and ice sheets continuously change as the hydrological conditions within and on the ice change. Glaciers and ice sheets can be considered bioreactors as microbiomes transform nutrients that enter these icy systems and alter the meltwater chemistry. Global warming is increasing meltwater discharge, affecting nutrient and cell export, and altering proglacial systems. In this review, we integrate the current understanding of glacial hydrology, microbial activity, and nutrient and carbon dynamics to highlight their interdependence and variability on daily and seasonal time scales, as well as their impact on proglacial environments

Three Wide-Separation L dwarf Companions from the Two Micron All Sky Survey: Gl 337C, Gl 618.1B, and HD 89744B

We present two confirmed wide separation L-dwarf common proper motion companions to nearby stars and one candidate identified from the Two Micron All Sky Survey. Spectral types from optical spectroscopy are L0 V, L2.5 V, and L8 V. Near-infrared low resolution spectra of the companions are provided as well as a grid of known objects spanning M6 V -- T dwarfs to support spectral type assignment for these and future L-dwarfs in the z'JHK bands. Using published measurements, we estimate ages of the companions from physical properties of the primaries. These crude ages allow us to estimate companion masses using theoretical low-mass star and brown dwarf evolutionary models. The new L-dwarfs in this paper bring the number of known wide-binary (Separation >= 100 AU) L-dwarf companions of nearby stars to nine. One of the L-dwarfs is a wide separation companion to the F7 IV-V + extrasolar planet system HD89744Ab.Comment: 20 pages including 6 tables and 4 figures, AJ, in pres