Area Rastreio Neonatal de Hemoglobinopatias: A Experiência de um Hospital de Nível II na Área Metropolitana de Lisboa

Introdução: As hemoglobinopatias são doenças genéticas, causadas por alterações da produção de hemoglobina, das quais se destacam, pela gravidade e prevalência, a doença falciforme e as síndromes talassémicas. O diagnóstico precoce das hemoglo - binopatias é essencial, permitindo a implementação de medidas que reduzem a morbilidade e a mortalidade nestes doentes. Este estudo caracteriza uma amostra de recém-nascidos incluídos num programa de rastreio de hemoglobinopatias no ano de 2013, num hospital de nível II na área metropolitana de Lisboa. Métodos: Estudo retrospetivo descritivo baseado em dados colhidos nos registos clínicos e laboratoriais hospitalares de crian - ças nascidas entre 1 de janeiro e 31 de dezembro de 2013 com origem familiar em áreas de risco indicadas pela Direção Geral da Saúde ou com história familiar de hemoglobinopatia. Aos recém-nascidos incluídos foi realizado hemograma e eletroforese de hemoglobinas entre o primeiro e o terceiro dia de vida. Resultados: Realizados 739 rastreios (27,7% das crianças nascidas neste período). Foram detetadas 86 (12%) variantes do padrão normal de hemoglobinas, incluindo três casos de doença falciforme (dois casos de hemoglobinopatia SS e um caso de hemoglobinopatia SC) e 83 casos de portadores de hemoglobinopatias. Todos os recém-nascidos com variantes de hemoglo - bina foram observados em consulta de hematologia pediátrica. Discussão: Este rastreio permitiu a deteção precoce de novos casos de doença falciforme, com consequente melhoria dos cuidados prestados a estes doentes, e a deteção de portadores, possibilitando o aconselhamento às famílias.info:eu-repo/semantics/publishedVersio

Sildenafil restores cognitive function without affecting β-amyloid burden in a mouse model of Alzheimer's disease

Abstract BACKGROUND AND PURPOSE: Inhibitors of phosphodiesterase 5 (PDE5) affect signalling pathways by elevating cGMP, which is a second messenger involved in processes of neuroplasticity. In the present study, the effects of the PDE5 inhibitor, sildenafil, on the pathological features of Alzheimer's disease and on memory-related behaviour were investigated. EXPERIMENTAL APPROACH: Sildenafil was administered to the Tg2576 transgenic mouse model of Alzheimer's disease and to age-matched negative littermates (controls). Memory function was analysed using the Morris water maze test and fear conditioning tasks. Biochemical analyses were performed in brain lysates from animals treated with saline or with sildenafil. KEY RESULTS: Treatment of aged Tg2576 animals with sildenafil completely reversed their cognitive impairment. Such changes were accompanied in the hippocampus by a reduction of tau hyperphosphorylation and a decrease in the activity of glycogen synthase kinase 3β (GSK3β) and of cyclin-dependent kinase 5 (CDK5) (p25/p35 ratio). Moreover, sildenafil also increased levels of brain-derived neurotrophic factor (BDNF) and the activity-regulated cytoskeletal-associated protein (Arc) in the hippocampus without any detectable modification of brain amyloid burden. CONCLUSIONS AND IMPLICATIONS: Sildenafil improved cognitive functions in Tg2576 mice and the effect was not related to changes in the amyloid burden. These data further strengthen the potential of sildenafil as a therapeutic agent for Alzheimer's disease

Catalytic steam gasification of biomass for a sustainable hydrogen future: influence of catalyst composition

Hydrogen is regarded as a clean energy for fuelling the future. Hydrogen will be the energy carrier from other resources such as hydropower, wind, solar and biomass. Producing hydrogen from gasification of biomass wastes, particularly in the presence of steam, represents a promising route to produce this clean and CO2-neutral fuel. The steam pyrolysis-gasification ofbiomass (wood sawdust) was carried out with various nickel-based catalysts for hydrogen production in a two-stage fixed bed reaction system. The wood sawdust was pyrolysed in the first reactor and the derived products were gasified in the second reactor in the presence of the catalyst and steam. The synthesised Ni-Ca-Al and Ni-Zn-Al catalysts were preparedbyco-precipitation method with different Ni loadings of 20 mol% and various Zn/Al or Ca/Al ratios, which were characterized with scanning electron microscopy (SEM), transmission electron microscopy (TEM) and temperature-programmed oxidation (TPO). The results showed that the Ni/Zn-Al (1:9) catalyst resulted in higher hydrogenproduction(23.9 mmol H2 g-1biomass)compared with the Ni/Ca-Al (1:9) catalyst (12.7 23.9 mmol H2 g-1 biomass) and in addition, the increase of Ca or Zn content in the catalyst slightly increased the hydrogen production. The TPO results showed that the catalyst suffered negligible coke deposition from the catalytic steam pyrolysis/gasification of wood sawdust. Additionally, Na2CO3 basic solution was also found toproduce a catalyst with better performance and lower coke deposition, compared with NH4OH catalyst preparation agent, as observed by TPO, SEM and TEM analysis

Resolving galaxies in time and space: II: Uncertainties in the spectral synthesis of datacubes

In a companion paper we have presented many products derived from the application of the spectral synthesis code STARLIGHT to datacubes from the CALIFA survey, including 2D maps of stellar population properties and 1D averages in the temporal and spatial dimensions. Here we evaluate the uncertainties in these products. Uncertainties due to noise and spectral shape calibration errors and to the synthesis method are investigated by means of a suite of simulations based on 1638 CALIFA spectra for NGC 2916, with perturbations amplitudes gauged in terms of the expected errors. A separate study was conducted to assess uncertainties related to the choice of evolutionary synthesis models. We compare results obtained with the Bruzual & Charlot models, a preliminary update of them, and a combination of spectra derived from the Granada and MILES models. About 100k CALIFA spectra are used in this comparison. Noise and shape-related errors at the level expected for CALIFA propagate to 0.10-0.15 dex uncertainties in stellar masses, mean ages and metallicities. Uncertainties in A_V increase from 0.06 mag in the case of random noise to 0.16 mag for shape errors. Higher order products such as SFHs are more uncertain, but still relatively stable. Due to the large number statistics of datacubes, spatial averaging reduces uncertainties while preserving information on the history and structure of stellar populations. Radial profiles of global properties, as well as SFHs averaged over different regions are much more stable than for individual spaxels. Uncertainties related to the choice of base models are larger than those associated with data and method. Differences in mean age, mass and metallicity are ~ 0.15 to 0.25 dex, and 0.1 mag in A_V. Spectral residuals are ~ 1% on average, but with systematic features of up to 4%. The origin of these features is discussed. (Abridged)Comment: A&A, accepte

The space density distribution of galaxies in the absolute magnitude - rotation velocity plane: a volume-complete Tully-Fisher relation from CALIFA stellar kinematics

The space density distribution of galaxies in the absolute magnitude - rotation velocity plane: a volume-complete Tully-Fisher relation from CALIFA stellar kinematicsComment: Accepted to A&

Espondilodiscitis cervicales

Se revisaron nueve casos de discitis infecciosas de localización cervical de una serie de ochenta pacientes con espondilodiscitis (10%). Se valoraron mediante historia clínica, analítica y radiología simple todos ellos. Además, seis de ellos se valoraron por Resonancia Magnética, tres por gammagrafía ósea, y un caso por punción-biopsia. Los factores predisponentes eran claros en seis de los pacientes, encontrando entre ellos tres sepsis por Stafilococcus aureus, dos intervenciones quirúrgicas previas sobre columna cervical y una insuficiencia renal crónica terminal en tratamiento con hemodiálisis. Sólo uno de los pacientes se complicó al presentar secundariamente afectación neurológica con resultado de tetraplejía flácida. Se llevó a cabo tratamiento médico con antibioterapia e inmovilización con collarín en siete casos; en dos casos se realizó tratamiento quirúrgico mediante limpieza del foco y artrodesis (uno de ellos con descompresión medular) además del tratamiento médico. En aquellos pacientes tratados conservadoramente mediante tratamiento médico y ortopédico la evolución fue hacia la curación con anquilosis vertebral (fusión) en cinco de ellos, y en uno hacia discopatía artrósica crónica. Los pacientes tratados quirúrgicamente evolucionaron hacia artrodesis estable, aunque uno de ellos, el que tenía comprometida la función neurológica con tetraplejía, no la recuperó. Mediante esta revisión pretendemos plantear la dificultad diagnóstica y el riesgo potencial de las infecciones cervicales.Eighty patients were treated for spondylodiscitis with the cervical spine involved in nine cases. Conservative treatment was applied in seven cases with Minerva jacket and antibiotics, and surgical treatment was applied in severe, rapidly, progressive, complicated cases and in patients with involvement of nervous system (two cases). The good and satisfactory results in both group were similar. These results show that when the indications are properly establised, both conservative and operative methods have satisfactory results

Intramuscular EMG-driven musculoskeletal modelling: towards implanted muscle interfacing in spinal cord injury patients

OBJECTIVE: Surface EMG-driven modelling has been proposed as a means to control assistive devices by estimating joint torques. Implanted EMG sensors have several advantages over wearable sensors but provide a more localized information on muscle activity, which may impact torque estimates. Here, we tested and compared the use of surface and intramuscular EMG measurements for the estimation of required assistive joint torques using EMG driven modelling. METHODS: Four healthy subjects and three incomplete spinal cord injury (SCI) patients performed walking trials at varying speeds. Motion capture marker trajectories, surface and intramuscular EMG, and ground reaction forces were measured concurrently. Subject-specific musculoskeletal models were developed for all subjects, and inverse dynamics analysis was performed for all individual trials. EMG-driven modelling based joint torque estimates were obtained from surface and intramuscular EMG. RESULTS: The correlation between the experimental and predicted joint torques was similar when using intramuscular or surface EMG as input to the EMG-driven modelling estimator in both healthy individuals and patients. CONCLUSION: We have provided the first comparison of non-invasive and implanted EMG sensors as input signals for torque estimates in healthy individuals and SCI patients. SIGNIFICANCE: Implanted EMG sensors have the potential to be used as a reliable input for assistive exoskeleton joint torque actuation

Spotting the differences between active and non-active twin galaxies on kpc-scales. A pilot study

We present a pilot study aimed to identify large-scale galaxy properties that could play a role in activating a quiescent nucleus. To do so, we compare the properties of two isolated nearby active galaxies and their non-active twins selected from the Calar Alto Legacy Integral Field Area (CALIFA) survey. This pilot sample includes two barred and two unbarred galaxies. We characterise the stellar and ionised gas kinematics and also their stellar content. We obtain simple kinematic models by fitting the full stellar and ionised gas velocity fields and just the approaching/receding sides. We find that the analysed active galaxies present lopsided disks and higher values of the global stellar angular momentum ($\lambda_{R}$) than their non-active twins. This could be indicating that the stellar disks of the AGN gained angular momentum from the inflowing gas that triggered the nuclear activity. The inflow of gas could have been produced by a twisted disk instability in the case of the unbarred AGN, and by the bar in the case of the barred AGN. In addition, we find that the central regions of the studied active galaxies show older stellar populations than their non-active twins. The next step is to statistically explore these galaxy properties in a larger sample of twin galaxies.Comment: 24 pages, 24 figures. Accepted by MNRA

Symbolic dynamics to enhance diagnostic ability of portable oximetry from the Phone Oximeter in the detection of paediatric sleep apnoea

Objective: This study is aimed at assessing symbolic dynamics as a reliable technique to characterize complex fluctuations of portable oximetry in the context of automated detection of childhood obstructive sleep apnoea-hypopnoea syndrome (OSAHS). Approach: Nocturnal oximetry signals from 142 children with suspected OSAHS were acquired using the Phone Oximeter: a portable device that integrates a pulse oximeter with a smartphone. An apnoea-hypopnoea index (AHI) ⩾ 5 events h−1 from simultaneous in-lab polysomnography was used to confirm moderate-to-severe childhood OSAHS. Symbolic dynamics was used to parameterise non-linear changes in the overnight oximetry profile. Conventional indices, anthropometric measures, and time-domain linear statistics were also considered. Forward stepwise logistic regression was used to obtain an optimum feature subset. Logistic regression (LR) was used to identify children with moderate-to-severe OSAHS. Main results: The histogram of 3-symbol words from symbolic dynamics showed significant differences (p < 0.01) between children with AHI < 5 events h−1 and moderate-to-severe patients (AHI ⩾ 5 events h−1). Words representing increasing oximetry values after apnoeic events (re-saturations) showed relevant diagnostic information. Regarding the performance of individual characterization approaches, the LR model composed of features from symbolic dynamics alone reached a maximum performance of 78.4% accuracy (65.2% sensitivity; 86.8% specificity) and 0.83 area under the ROC curve (AUC). The classification performance improved combining all features. The optimum model from feature selection achieved 83.3% accuracy (73.5% sensitivity; 89.5% specificity) and 0.89 AUC, significantly (p <0.01) outperforming the other models. Significance: Symbolic dynamics provides complementary information to conventional oximetry analysis enabling reliable detection of moderate-to-severe paediatric OSAHS from portable oximetry