Sickle Cell Disease and Cerebrovascular Stroke: A Preventable Event

Introdução: Na criança, a etiologia do acidente vascular cerebral (AVC) é conhecida em 75% dos casos, sendo a anemia de células falciformes (ACF) a mais frequente na criança de raça negra. O interesse deste caso clínico reside na forma de apresentação pouco habitual e curso evitável. Caso clínico: Criança de raça negra com 27 meses de idade, sem antecedentes relevantes, admitida por sinais neurológicos focais de instalação súbita. A tomografia computorizada cranio-encefálica e ressonância magnética evidenciaram lesão isquémica aguda extensa e alterações compatíveis com AVC silencioso prévio. Analiticamente apresentava anemia normocítica, muitos drepanocitos de formação espontânea e 87% de hemoglobina S. Neste contexto, foi submetida a transfusão-permuta. Conclusão: O AVC como complicação da ACF pode acontecer em idades precoces e surgir como quadro inaugural. Pensamos que se justifica divulgar o rastreio pré-natal e realizar um estudo da relação custo-benefício para a implementação de um rastreio neonatal desta patologia em Portugal

A mixed reality telepresence system for collaborative space operation

This paper presents a Mixed Reality system that results from the integration of a telepresence system and an application to improve collaborative space exploration. The system combines free viewpoint video with immersive projection technology to support non-verbal communication, including eye gaze, inter-personal distance and facial expression. Importantly, these can be interpreted together as people move around the simulation, maintaining natural social distance. The application is a simulation of Mars, within which the collaborators must come to agreement over, for example, where the Rover should land and go. The first contribution is the creation of a Mixed Reality system supporting contextualization of non-verbal communication. Tw technological contributions are prototyping a technique to subtract a person from a background that may contain physical objects and/or moving images, and a light weight texturing method for multi-view rendering which provides balance in terms of visual and temporal quality. A practical contribution is the demonstration of pragmatic approaches to sharing space between display systems of distinct levels of immersion. A research tool contribution is a system that allows comparison of conventional authored and video based reconstructed avatars, within an environment that encourages exploration and social interaction. Aspects of system quality, including the communication of facial expression and end-to-end latency are reported

Electromagnetic channel capacity for practical purposes

We give analytic upper bounds to the channel capacity C for transmission of classical information in electromagnetic channels (bosonic channels with thermal noise). In the practically relevant regimes of high noise and low transmissivity, by comparison with know lower bounds on C, our inequalities determine the value of the capacity up to corrections which are irrelevant for all practical purposes. Examples of such channels are radio communication, infrared or visible-wavelength free space channels. We also provide bounds to active channels that include amplification.Comment: 6 pages, 3 figures. NB: the capacity bounds are constructed by generalizing to the multi-mode case the minimum-output entropy bounds of arXiv:quant-ph/0404005 [Phys. Rev. A 70, 032315 (2004)

Globally enhanced calcification across the coccolithophore Gephyrocapsa complex during the mid-Brunhes interval

Evolutionary or adaptative changes in Noelaerhabdaceae coccolithophores occurred in parallel with major changes in carbonate export and burial during scenarios of low orbital eccentricity, with a ∼400 kyr recurrence, during the Pleistocene. Coeval with these conditions of enhanced proliferation, here we report that the calcification of specimens was enhanced at a global scale and across multiple species or morphotypes within the Gephyrocapsa complex during the Mid-Brunhes (MB) interval. This acme of increased production of organic and inorganic carbon by Gephyrocapsa, suggests that such global changes may originate from a common driver. Increased seawater alkalinity, with an appropriately long residence time, is proposed as environmental trigger on the selection of a wide variety of highly calcified and prolific Gephyrocapsa taxa. This new perspective highlights the role of orbital forcing in phytoplankton evolution or adaptation, via a global environmental driver in the form of seawater carbon chemistry. Our results fit with earlier proposals appealing for an intensified biological pump and respiration dissolution during this interval. We hypothesize that the Gephyrocapsa acme may play a double-edged role, by increasing shallow respiration dissolution rates, limiting the removal of alkalinity by burial, which may help to recycle alkalinity and maintain constant levels at the ∼400 kyr scale. This idea suggests the potential capacity of the Noelaerhabdaceae coccolithophore acmes to modify the typical behaviour of carbonate compensation in the ocean and that the changes in coccolithophore calcification may be indicative of changes in ocean carbonate chemistry and the operation of the global carbon cycle in the past

Transcriptomic and connectomic correlates of differential spatial patterning among gliomas.

Unravelling the complex events driving grade-specific spatial distribution of brain tumour occurrence requires rich datasets from both healthy individuals and patients. Here, we combined open-access data from The Cancer Genome Atlas, the UKBiobank and the Allen Brain Human Atlas to disentangle how the different spatial occurrences of Glioblastoma Multiforme (GBM) and Low-Grade Gliomas (LGG) are linked to brain network features and the normative transcriptional profiles of brain regions. From MRI of brain tumour patients we first constructed a grade-related frequency map of the regional occurrence of LGG and the more aggressive GBM. Using associated mRNA transcription data, we derived a set of differential gene expressions from GBM and LGG tissues of the same patients. By combining the resulting values with normative gene expressions from postmortem brain tissue, we constructed a grade-related expression map indicating which brain regions express genes dysregulated in aggressive gliomas. Additionally, we derived an expression map of genes previously associated with tumour subtypes in a GWAS study (tumour-related genes). There were significant associations between grade-related frequency, grade-related expression, and tumour-related expression maps, as well as functional brain network features (specifically, nodal strength and participation coefficient) that are implicated in neurological and psychiatric disorders. These findings identify brain network dynamics and transcriptomic signatures as key factors in regional vulnerability for GBM and LGG occurrence, placing primary brain tumours within a well-established framework of neurological and psychiatric cortical alterations

Effects of intermediate scales on renormalization group running of fermion observables in an SO(10) model

In the context of non-supersymmetric SO(10) models, we analyze the renormalization group equations for the fermions (including neutrinos) from the GUT energy scale down to the electroweak energy scale, explicitly taking into account the effects of an intermediate energy scale induced by a Pati--Salam gauge group. To determine the renormalization group running, we use a numerical minimization procedure based on a nested sampling algorithm that randomly generates the values of 19 model parameters at the GUT scale, evolves them, and finally constructs the values of the physical observables and compares them to the existing experimental data at the electroweak scale. We show that the evolved fermion masses and mixings present sizable deviations from the values obtained without including the effects of the intermediate scale.Comment: Comments: 20 pages, 3 figures. Final version published in JHE