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Sökning: WFRF:(Fonseca Catarina)

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  • Pires, Ana Elisabete, et al. (författare)
  • The curious case of the Mesolithic Iberian dogs : An archaeogenetic study
  • 2019
  • Ingår i: Journal of Archaeological Science. - 0305-4403 .- 1095-9238. ; 105, s. 116-129
  • Tidskriftsartikel (refereegranskat)abstract
    • We investigated the genetic composition of six Canis remains from western Iberia, directly radiocarbon dated to 7,903-7,570 years (cal BP). They were identified as dogs via their archaeological and depositional context, osteometry, and a high percentage of aquatic diet shared with humans. For comparison, genetic data were obtained from an additional 37 Iberian dog remains from the Neolithic to Late Antiquity, as well as two Palaeolithic and a Chalcolithic Canis identified as wolves. Previous data indicated that dog mtDNA haplogroup A (HgA) is prevalent in extant European dogs ( > 50%), in the Near East and Asia, but rare or absent ( < 10%) in European Canis older than 3,000 years (cal BP). We found a high frequency (83%) of dog HgA in Mesolithic Iberian dog remains. This is the first report of a high frequency of dog HgA in pre-Neolithic Europe. We show that, contrary to the current view, Canis with HgA did not necessarily arrive in Europe from East-Asia. This phylogeographical difference in HgA frequency demonstrates that genetic differentiation was high prior to, or as a consequence of, domestication which may be linked with pre-Neolithic local processes for Iberian wolf domestication. Our results emphasize that knowledge of both ancient wolves' and early dogs' genetic profiles from the European periphery should improve our understanding of the evolution of the European dog.
  • Fonseca, Ana Catarina R. G., et al. (författare)
  • Calcineurin is an important factor involved in glucose uptake in human adipocytes
  • 2018
  • Ingår i: Molecular and Cellular Biochemistry. - : SPRINGER. - 0300-8177 .- 1573-4919. ; 445:1-2, s. 157-168
  • Tidskriftsartikel (refereegranskat)abstract
    • Calcineurin inhibitors are used in immunosuppressive therapy applied after transplantation, but they are associated with major metabolic side effects including the development of new onset diabetes. Previously, we have shown that the calcineurin inhibiting drugs tacrolimus and cyclosporin A reduce adipocyte and myocyte glucose uptakes by reducing the amount of glucose transporter type 4 (GLUT4) at the cell surface, due to an increased internalization rate. However, this happens without alteration in total protein and phosphorylation levels of key proteins involved in insulin signalling or in the total amount of GLUT4. The present study evaluates possible pathways involved in the altered internalization of GLUT4 and consequent reduction of glucose uptake provoked by calcineurin inhibitors in human subcutaneous adipose tissue. Short- and long-term treatments with tacrolimus, cyclosporin A or another CNI deltamethrin (herbicide) decreased basal and insulin-dependent glucose uptake in adipocytes, without any additive effects observed when added together. However, no tacrolimus effects were observed on glucose uptake when gene transcription and protein translation were inhibited. Investigation of genes potentially involved in GLUT4 trafficking showed only a small effect on ARHGEF11 gene expression (p < 0.05). In conlusion, the specific inhibition of calcineurin, but not that of protein phosphatases, decreases glucose uptake in human subcutaneous adipocytes, suggesting that calcineurin is an important regulator of glucose transport. This inhibitory effect is mediated via gene transcription or protein translation; however, expression of genes potentially involved in GLUT4 trafficking and endocytosis appears not to be involved in these effects.
  • Lorenzano, Svetlana, et al. (författare)
  • SiPP (Stroke in Pregnancy and Postpartum) : A prospective, observational, international, multicentre study on pathophysiological mechanisms, clinical profile, management and outcome of cerebrovascular diseases in pregnant and postpartum women
  • 2020
  • Ingår i: European Stroke Journal. - : SAGE Publications. - 2396-9873. ; 5:2, s. 193-203
  • Tidskriftsartikel (refereegranskat)abstract
    • Rationale: Cerebrovascular diseases associated with pregnancy and postpartum period are uncommon; however, they can have an important impact on health of both women and foetus or newborn. Aims: To evaluate the frequency, characteristics and management of cerebrovascular events in pregnant/postpartum women, to clarify pathophysiological mechanisms underlying the occurrence of these events including biomolecular aspects, and to assess the short- and long-term cerebrovascular and global cardiovascular outcome of these patients, their predictors and infant outcome. Methods and design: This is an observational, prospective, multicentre, international case–control study. The study will include patients with cerebrovascular events during pregnancy and/or within six months after delivery. For each included case, two controls will be prospectively recruited: one pregnant or puerperal subject without any history of cerebrovascular event and one non-pregnant or non-puerperal subject with a recent cerebrovascular event. All controls will be matched by age, ethnicity and type of cerebrovascular event with their assigned cases. The pregnant controls will be matched also by pregnancy weeks/trimester. Follow-up will last 24 months for the mother and 12 months for the infant. Summary: To better understand causes and outcomes of uncommon conditions like pregnancy/postpartum-related cerebrovascular events, the development of multisite, multidisciplinary registry-based studies, such as the Stroke in Pregnancy and Postpartum study, is needed in order to collect an adequate number of patients, draw reliable conclusions and give definite recommendations on their management.
  • Putaala, Jukka, et al. (författare)
  • Searching for Explanations for Cryptogenic Stroke in the Young: Revealing the Triggers, Causes, and Outcome (SECRETO): Rationale and design
  • 2017
  • Ingår i: European Stroke Journal. - : SAGE Publications. - 2396-9873. ; 2:2, s. 116-125
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Worldwide, about 1.3 million annual ischaemic strokes (IS) occur in adults aged <50 years. Of theseearly-onset strokes, up to 50% can be regarded as cryptogenic or associated with conditions with poorly documented causality like patent foramen ovale and coagulopathies. Key hypotheses/aims: (1) Investigate transient triggers and clinical/sub-clinical chronic risk factors associated with cryptogenic IS in the young; (2) use cardiac imaging methods exceeding state-of-the-art to reveal novel sources for embolism; (3) search for covert thrombosis and haemostasis abnormalities; (4) discover new disease pathways using next-generation sequencing and RNA gene expression studies; (5) determine patient prognosis by use of phenotypic and genetic data; and (6) adapt systems medicine approach to investigate complex risk-factor interactions. Design: Searching for Explanations for Cryptogenic Stroke in the Young: Revealing the Etiology, Triggers, and Outcome (SECRETO; NCT01934725) is a prospective multi-centre case–control study enrolling patients aged 18–49 years hospitalised due to first-ever imaging-proven IS of undetermined etiology. Patients are examined according to a standardised protocol and followed up for 10 years. Patients are 1:1 age- and sex-matched to stroke-free controls. Key study elements include centralised reading of echocardiography, electrocardiography, and neurovascular imaging, as well as blood samples for genetic, gene-expression, thrombosis and haemostasis and biomarker analysis. We aim to have 600 patient–control pairs enrolled by the end of 2018. Summary: SECRETO is aiming to establish novel mechanisms and prognosis of cryptogenic IS in the young and will provide new directions for therapy development for these patients. First results are anticipated in 2019.
  • Silva, Catarina, et al. (författare)
  • Acting on observed social exclusion and pro-social behaviour in autism spectrum disorder
  • 2020
  • Ingår i: Autism. - 1362-3613 .- 1461-7005. ; 24:1, s. 233-245
  • Tidskriftsartikel (refereegranskat)abstract
    • Humans are commonly motivated towards cooperation and prosociality. In this study, we examined this motivational predisposition in autistic individuals. Using an adaptation of the Cyberball paradigm, we investigated subsequent pro-social behaviour after witnessing social exclusion. Participants witnessed and played a series of Cyberball games, rated their affective state and valued emotional faces with respect to their approachability. Results showed that participants from both groups were aware of the social exclusion. However, while neurotypically developing participants engaged in pro-social behaviour in reaction to the exclusion, autistic participants showed less alterations, in terms of either behaviour or affective state. The current findings suggest a distinct motivational drive and processing of social reward stimuli in autism, which may result in behavioural responses divergent from typical development when engaging in the social world.
  • Silva, Catarina, et al. (författare)
  • Attachment style impacts behavior and early oculomotor response to positive, but not negative, pictures
  • 2015
  • Ingår i: Scandinavian Journal of Psychology. - 0036-5564 .- 1467-9450. ; 56:3, s. 327-334
  • Tidskriftsartikel (refereegranskat)abstract
    • The present study investigated whether oculomotor behavior is influenced by attachment styles. The Relationship Scales Questionnaire was used to assess attachment styles of forty-eight voluntary university students and to classify them into attachment groups (secure, preoccupied, fearful, and dismissing). Eye-tracking was recorded while participants engaged in a 3-seconds free visual exploration of stimuli presenting either a positive or a negative picture together with a neutral picture, all depicting social interactions. The task consisted in identifying whether the two pictures depicted the same emotion. Results showed that the processing of negative pictures was impermeable to attachment style, while the processing of positive pictures was significantly influenced by individual differences in insecure attachment. The groups highly avoidant regarding to attachment (dismissing and fearful) showed reduced accuracy, suggesting a higher threshold for recognizing positive emotions compared to the secure group. The groups with higher attachment anxiety (preoccupied and fearful) showed differences in automatic capture of attention, in particular an increased delay preceding the first fixation to a picture of positive emotional valence. Despite lenient statistical thresholds induced by the limited sample size of some groups (p < 0.05 uncorrected for multiple comparisons), the current findings suggest that the processing of positive emotions is affected by attachment styles. These results are discussed within a broader evolutionary framework.
  • Silva, Catarina, et al. (författare)
  • Seeing the funny side of things : Humour processing in Autism Spectrum Disorders
  • 2017
  • Ingår i: Research in Autism Spectrum Disorders. - 1750-9467 .- 1878-0237. ; 43-44, s. 8-17
  • Tidskriftsartikel (refereegranskat)abstract
    • Background Humour is fundamentally a social phenomenon, occurring frequently in social and playful contexts. The positive affect resulting from an experience of enjoyed humour makes it socially rewarding. A lack of sense of humour has been associated with individuals with autism spectrum disorders (ASD), however, the existing literature is sparse and inconclusive. In this study, we investigated implicit and explicit humour understanding and appreciation in ASD. Method Specifically, an implicit item-item associative task was used, in which participants saw neutral-humorous and neutral-neutral sequences of two pictures in an encoding phase. Following a filler task, sequence recognition was measured in a yes/no test phase. At the end of the task, explicit measures of humour understanding and appreciation were completed by the participants, who rated the picture sequences for humour appreciation and funniness. Results Results revealed that, at an explicit level, participants with ASD were able to enjoy and understand the humorous stimuli as much as typically developing (TD) participants. At an implicit level, however, the results suggest that humour processing may be specially content-dependent in ASD. Fine-grained analysis on task performance indeed showed an altered humorous processing for social, but not for non-social humorous content in the ASD group, while that was not the case for the TD group. Conclusions These results suggest that participants with ASD may be distinctively motivated to attend to social reward cues such as social humorous stimuli. These findings are discussed within the social motivation hypothesis framework.
  • Sousa, Elsa, et al. (författare)
  • Ankylosing Spondylitis Susceptibility and Severity-Contribution of TNF Gene Promoter Polymorphisms at Positions-238 and-308
  • 2009
  • Ingår i: Contemporary Challenges in Autoimmunity. - : Wiley-Blackwell. - 0077-8923. ; 1173, s. 581-588
  • Konferensbidrag (refereegranskat)abstract
    • Ankylosing spondylitis (AS) is a chronic inflammatory disease in which genetic factors play a central role. The efficacy of TNF blockers has reoriented research in this field in order to explain the influence of TNF in AS pathogenesis. The objective of this study was to access the influence of single nucleotide polymorphisms (SNPs) at positions -308 and -238 of the promoter region of TNF gene on AS susceptibility and prognosis. SNPS were determined by restriction fragment length polymorphisms in patients and controls. AS patients exhibited a decreased frequency of the A allele at position -238 (10%) when compared with controls (18%), suggesting that this could be a protective factor for disease susceptibility. In addition, the -308 GA/AA genotypes were associated with later disease onset in AS patients. These results suggest that TNF gene promoter polymorphisms at positions -238 and -308 could have a small influence on AS susceptibility and prognosis.
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