Screening for Autism Spectrum Disorders-Validation of the Portuguese Version of the Social Communication Questionnaire

There are no assessment and screening tools for Autism Spectrum Disorders (ASD) validated for the Portuguese population. The Social Communication Questionnaire (SCQ) is an useful screening tool of ASD diagnosis. The main objectives of our study were to produce a Portuguese version of the SCQ (SCQ-PF), study its internal consistency, sensitivity and specificity in order to evaluate its validity as a screening instrument for ASD. We also wanted to study the impact of intellectual disability and verbal impairment and other mental disorders on SCQ-PF psychometric properties. The study included 211 children and adolescents, aged 4-17, divided in three groups: ASD Group (n = 96), Other Mental Disorders Group (OMD) (n = 63) and No Mental Disorders (NMD) Group (n = 52). Parents or other primary caregiver provided information on the SCQ items. The SCQ-PF score was significantly higher in the ASD group than in the other groups (p < 0.001). As to internal consistency, Cronbach's alpha was 87%. ASD subjects were distinguished from subjects without ASD (OMD and NMD Groups) and the area under the curve (AUC) was 0.897 (95% Confidence Interval: 0.852-0.943), for a cutoff of 14, which yielded the highest AUC, with values of sensitivity and specificity 0.76 and 0.93, respectively. These findings show that SCQ- PF with a cutoff of 14 is an acceptable and useful screening tool for ASD in the Portuguese population

Analysis of the quality of hospital information systems Audit Trails.

BACKGROUND: Audit Trails (AT) are fundamental to information security in order to guarantee access traceability but can also be used to improve Health information System's (HIS) quality namely to assess how they are used or misused. This paper aims at analysing the existence and quality of AT, describing scenarios in hospitals and making some recommendations to improve the quality of information. METHODS: The responsibles of HIS for eight Portuguese hospitals were contacted in order to arrange an interview about the importance of AT and to collect audit trail data from their HIS. Five institutions agreed to participate in this study; four of them accepted to be interviewed, and four sent AT data. The interviews were performed in 2011 and audit trail data sent in 2011 and 2012. Each AT was evaluated and compared in relation to data quality standards, namely for completeness, comprehensibility, traceability among others. Only one of the AT had enough information for us to apply a consistency evaluation by modelling user behaviour. RESULTS: The interviewees in these hospitals only knew a few AT (average of 1 AT per hospital in an estimate of 21 existing HIS), although they all recognize some advantages of analysing AT. Four hospitals sent a total of 7 AT - 2 from Radiology Information System (RIS), 2 from Picture Archiving and Communication System (PACS), 3 from Patient Records. Three of the AT were understandable and three of the AT were complete. The AT from the patient records are better structured and more complete than the RIS/PACS. CONCLUSIONS: Existing AT do not have enough quality to guarantee traceability or be used in HIS improvement. Its quality reflects the importance given to them by the CIO of healthcare institutions. Existing standards (e.g. ASTM:E2147, ISO/TS 18308:2004, ISO/IEC 27001:2006) are still not broadly used in Portugal.publishersversionpublishe

The genome sequence of <i>Trypanosoma brucei gambiense</i>, causative agent of chronic Human African Trypanosomiasis

&lt;p&gt;&lt;b&gt;Background:&lt;/b&gt; &lt;i&gt;Trypanosoma brucei gambiense&lt;/i&gt; is the causative agent of chronic Human African Trypanosomiasis or sleeping sickness, a disease endemic across often poor and rural areas of Western and Central Africa. We have previously published the genome sequence of a &lt;i&gt;T. b. brucei&lt;/i&gt; isolate, and have now employed a comparative genomics approach to understand the scale of genomic variation between &lt;i&gt;T. b. gambiense&lt;/i&gt; and the reference genome. We sought to identify features that were uniquely associated with &lt;i&gt;T. b. gambiense&lt;/i&gt; and its ability to infect humans.&lt;/p&gt; &lt;p&gt;&lt;b&gt;Methods and findings:&lt;/b&gt; An improved high-quality draft genome sequence for the group 1 &lt;i&gt;T. b. gambiense&lt;/i&gt; DAL 972 isolate was produced using a whole-genome shotgun strategy. Comparison with &lt;i&gt;T. b. brucei&lt;/i&gt; showed that sequence identity averages 99.2% in coding regions, and gene order is largely collinear. However, variation associated with segmental duplications and tandem gene arrays suggests some reduction of functional repertoire in &lt;i&gt;T. b. gambiense&lt;/i&gt; DAL 972. A comparison of the variant surface glycoproteins (VSG) in &lt;i&gt;T. b. brucei&lt;/i&gt; with all &lt;i&gt;T. b. gambiense&lt;/i&gt; sequence reads showed that the essential structural repertoire of VSG domains is conserved across &lt;i&gt;T. brucei&lt;/i&gt;.&lt;/p&gt; &lt;p&gt;&lt;b&gt;Conclusions:&lt;/b&gt; This study provides the first estimate of intraspecific genomic variation within &lt;i&gt;T. brucei&lt;/i&gt;, and so has important consequences for future population genomics studies. We have shown that the &lt;i&gt;T. b. gambiense&lt;/i&gt; genome corresponds closely with the reference, which should therefore be an effective scaffold for any &lt;i&gt;T. brucei&lt;/i&gt; genome sequence data. As VSG repertoire is also well conserved, it may be feasible to describe the total diversity of variant antigens. While we describe several as yet uncharacterized gene families with predicted cell surface roles that were expanded in number in &lt;i&gt;T. b. brucei&lt;/i&gt;, no &lt;i&gt;T. b. gambiense&lt;/i&gt;-specific gene was identified outside of the subtelomeres that could explain the ability to infect humans.&lt;/p&gt

The role of climate, marine influence and sedimentation rates in late-Holocene estuarine evolution (SW Portugal)

Estuaries are sensitive to changes in global to regional sea level, to climate-driven variation in rainfall and to fluvial discharge. In this study, we use source and environmentally sensitive proxies together with radiocarbon dating to examine a 7-m-thick sedimentary record from the Sado estuary accumulated throughout the last 3.6 kyr. The lithofacies, geochemistry and diatom assemblages in the sediments accumulated between 3570 and 3240 cal. BP indicate a mixture between terrestrial and marine sources. The relative contribution of each source varied through time as sedimentation progressed in a low intertidal to high subtidal and low-energy accreting tidal flat. The sedimentation proceeded under a general pattern of drier and higher aridity conditions, punctuated by century-long changes of the rainfall regime that mirror an increase in storminess that affected SW Portugal and Europe. The sediment sequence contains evidence of two periods characterized by downstream displacement of the estuarine/freshwater transitional boundary, dated to 3570-3400 cal. BP and 3300-3240 cal. BP. These are intercalated by one episode where marine influence shifted upstream. All sedimentation episodes developed under high terrestrial sediment delivery to this transitional region, leading to exceptionally high sedimentation rates, independently of the relative expression of terrestrial/marine influences in sediment facies. Our data show that these disturbances are mainly climate-driven and related to variations in rainfall and only secondarily with regional sea-level oscillations. From 3240 cal. BP onwards, an abrupt change in sediment facies is noted, in which the silting estuarine bottom reaches mean sea level and continued accreting until present under prevailing freshwater conditions, the tidal flat changing to an alluvial plain. The environmental modification is accompanied by a pronounced change in sedimentation rate that decreased by two orders of magnitude, reflecting the loss of accommodation space rather than the influence of climate or regional sea-level drivers.FCT by Spanish Ministry of Science and Innovation [SFRH/BD/110270/2015, HAR2014-51830-P, HAR2011-29907-C03-00]FCTPortuguese Foundation for Science and Technology [PTDC/HISARQ/121592/2010]Instituto Dom Luiz-IDL [UID/GEO/50019/2013]info:eu-repo/semantics/publishedVersio

Angiotensin converting enzyme gene polymorphism is associated with severity of coronary artery disease in men with high total cholesterol levels

This study examines whether renin-angiotensin-aldosterone system gene polymorphisms: ACE (encoding for angiotensin converting enzyme) c.2306-117_404 I/D, AGTR1 (encoding for angiotensin II type-1 receptor) c.1080*86A>C and CYP11B2 (encoding for aldosterone synthase) c.-344C>T are associated with the extension of coronary atherosclerosis in a group of 647 patients who underwent elective coronary angiography. The extension of CAD was evaluated using the Gensini score. The polymorphisms were determined by PCR and RFLP assays. The associations between genotypes and the extent of coronary atherosclerosis were tested by the Kruskal-Wallis test, followed by pairwise comparisons using Wilcoxon test. The population has been divided into groups defined by: sex, smoking habit, past myocardial infarction, BMI (>, ≤ 25), age (>, ≤ 55), diabetes mellitus, level of total cholesterol (>, ≤ 200 mg/dl), LDL cholesterol (>, ≤ 130 mg/dl), HDL cholesterol (>, ≤ 40 mg/dl), triglycerides (>, ≤ 150 mg/dl). Significant associations between the ACE c.2306-117_404 I/D polymorphism and the Gensini score in men with high total cholesterol levels (PKruskal-Wallis = 0.008; Padjusted = 0.009), high level of LDL cholesterol (PKruskal-Wallis = 0.016; Padjusted = 0.028) and low level of HDL cholesterol (PKruskal-Wallis = 0.04; Padjusted = 0.055) have been found. No association between the AGTR1 c.1080*86A>C and CYP11B2 c.-344C>T and the Gensini score has been found. These results suggest that men who carry ACE c.2306-117_404 DD genotype and have high total cholesterol, high LDL cholesterol and low HDL cholesterol levels may be predisposed to the development of more severe CAD

Enhancing the sensitivity of magnetic sensors by 3D metamaterial shells

Magnetic sensors are key elements in our interconnected smart society. Their sensitivity becomes essential for many applications in fields such as biomedicine, computer memories, geophysics, or space exploration. Here we present a universal way of increasing the sensitivity of magnetic sensors by surrounding them with a spherical metamaterial shell with specially designed anisotropic magnetic properties. We analytically demonstrate that the magnetic field in the sensing area is enhanced by our metamaterial shell by a known factor that depends on the shell radii ratio. When the applied field is non-uniform, as for dipolar magnetic field sources, field gradient is increased as well. A proof-of-concept experimental realization confirms the theoretical predictions. The metamaterial shell is also shown to concentrate time-dependent magnetic fields upto frequencies of 100 kHz

The Evolution of Compact Binary Star Systems

We review the formation and evolution of compact binary stars consisting of white dwarfs (WDs), neutron stars (NSs), and black holes (BHs). Binary NSs and BHs are thought to be the primary astrophysical sources of gravitational waves (GWs) within the frequency band of ground-based detectors, while compact binaries of WDs are important sources of GWs at lower frequencies to be covered by space interferometers (LISA). Major uncertainties in the current understanding of properties of NSs and BHs most relevant to the GW studies are discussed, including the treatment of the natal kicks which compact stellar remnants acquire during the core collapse of massive stars and the common envelope phase of binary evolution. We discuss the coalescence rates of binary NSs and BHs and prospects for their detections, the formation and evolution of binary WDs and their observational manifestations. Special attention is given to AM CVn-stars -- compact binaries in which the Roche lobe is filled by another WD or a low-mass partially degenerate helium-star, as these stars are thought to be the best LISA verification binary GW sources.Comment: 105 pages, 18 figure