Authors report a representative case of basal cell nevus syndrome with great expressivity. The patient is a thirteen-year and ten-month-old girl. She shows the five major criteria of this disease: ...basal cell nevi, jaw cysts, skeletal abnormalities (bifid ribs, block vertebrae, rachischisis), ectopic calcifications (falx cerebri, tentorium cerebelli, interclinoid ligaments) and pits on the palms of both hands. Moreover the patient had a right ovarian fibroma with a lot of calcified zones inside as well as several small fibromas of the left ovary. Giantism was associated with this syndrome. This finding has not been published before.
En el presente articulo se muestran dos ejemplos de aplicacion de geoquimica y meneralogia al estudio del impacto ambiental derivado de la combustion de las centrales termoelectricas de carbon. La ...investigacion se centra en el estudio del comportamiento de elementos traza durante la combustion del carbon, en la determinacion de balances de emisiones de elementos traza en una gran central termica y sobre la delineacion de areas de impacto alrededor de la misma por medio del seguimiento de las cenizas volantes.
Highlights • We report real-world data from 464 patients treated with perampanel over 1 year. • Efficacy and tolerability of perampanel were comparable with clinical trial data. • Patients ≥65 years, ...vascular aetiology or fewer prior AEDs had a superior response. • Patients with psychiatric comorbidities (hyperactivity and personality disorder) were more likely to experience psychiatric AEs. • Patients with slower titration schedules were less likely to experience an AE
Satellite communications (SatComs) have recently entered a period of renewed interest motivated by technological advances and nurtured through private investment and ventures. The present survey aims ...at capturing the state of the art in SatComs, while highlighting the most promising open research topics. Firstly, the main innovation drivers are motivated, such as new constellation types, on-board processing capabilities, non-terrestrial networks and space-based data collection/processing. Secondly, the most promising applications are described, i.e., 5G integration, space communications, Earth observation, aeronautical and maritime tracking and communication. Subsequently, an in-depth literature review is provided across five axes: i) system aspects, ii) air interface, iii) medium access, iv) networking, v) testbeds & prototyping. Finally, a number of future challenges and the respective open research topics are described.
A major problem in genome annotation is whether it is valid to transfer the function from a characterised protein to a homologue of unknown activity. Here, we show that one can employ a strategy that ...uses a structure-based prediction of protein functional sites to assess the reliability of functional inheritance. We have automated and benchmarked a method based on the evolutionary trace approach. Using a multiple sequence alignment, we identified invariant polar residues, which were then mapped onto the protein structure. Spatial clusters of these invariant residues formed the predicted functional site. For 68 of 86 proteins examined, the method yielded information about the observed functional site. This algorithm for functional site prediction was then used to assess the validity of transferring the function between homologues. This procedure was tested on 18 pairs of homologous proteins with unrelated function and 70 pairs of proteins with related function, and was shown to be 94 % accurate. This automated method could be linked to schemes for genome annotation. Finally, we examined the use of functional site prediction in protein-protein and protein-DNA docking. The use of predicted functional sites was shown to filter putative docked complexes with a discrimination similar to that obtained by manually including biological information about active sites or DNA-binding residues.
Multiciliated cells (MCCs) project dozens to hundreds of motile cilia from their apical surface to promote the movement of fluids or gametes in the mammalian brain, airway or reproductive organs. ...Differentiation of MCCs requires the sequential action of the Geminin family transcriptional activators, GEMC1 and MCIDAS, that both interact with E2F4/5-DP1. How these factors activate transcription and the extent to which they play redundant functions remains poorly understood. Here, we demonstrate that the transcriptional targets and proximal proteomes of GEMC1 and MCIDAS are highly similar. However, we identified distinct interactions with SWI/SNF subcomplexes; GEMC1 interacts primarily with the ARID1A containing BAF complex while MCIDAS interacts primarily with BRD9 containing ncBAF complexes. Treatment with a BRD9 inhibitor impaired MCIDAS-mediated activation of several target genes and compromised the MCC differentiation program in multiple cell based models. Our data suggest that the differential engagement of distinct SWI/SNF subcomplexes by GEMC1 and MCIDAS is required for MCC-specific transcriptional regulation and mediated by their distinct C-terminal domains.
The occurrence and distribution of minerals, and major and trace elements of the coal #6-1 from the Cretaceous Wulantuga high-germanium coal deposit in Shengli coal field, Inner Mongolia are ...investigated.
The major mineral constituents of coal #6-1 are quartz (15%), kaolinite (4–5%), illite (1%), pyrite (<
1%), feldspars (<
1%), gypsum (weathering product, <
2%) and traces of chlorite. In addition to these phases, traces of scheelite (CaWO
4) and weddellite (an oxalate, CaC
2O
4·2H
2O) were also detected by XRD. On the basis of chemical and mineralogical properties, a clear differentiation was found between the upper and lower coal sections: the lower section with higher sulfide mineral content, and the upper one with low sulfur content and with a higher proportion of mineral phases formed/accumulated under oxidizing conditions (quartz and dolomite). This coal seam is highly enriched in Ge, As, W, and Hg (one to two orders of magnitude higher than the usual worldwide coal concentrations), with high contents of Sb, U, Cs, and Be (one order of magnitude higher than the usual worldwide coal concentrations). The geochemical and mineralogical profile patterns of the coal seam were attributed to the development of a basal reduced marsh environment evolving towards a more oxidizing marsh environment in the upper part of the coal seam. This could be related to the evolution from a high water table low moor marsh environment to a high moor marsh into an open water body with a higher detrital influence at the top of the seam.
These syngenetic geochemical characteristics are possibly modified by an unusually intensive hydrothermal alteration causing the formation of oxalate minerals and the enrichment in a series of elements such as Cs, Be, U, As, Se, and Hg.
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