Browsing by Author "Pinto, Carla"
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- Análise de variantes no gene STK11 e sua influência na resposta à imunoterapiaPublication . Bessa, Ana; Pina, Maria; Domingues, Patrícia; Dias, Margarida; Pinto, Carla; Cirnes, Luís; Silva, Regina A.A imunoterapia é uma das ferramentas terapêuticas de sucesso usadas no tratamento do cancro de pulmão, contudo alguns doentes apresentam progressão da doença ou morte. O gene Serine/ threonineKinase 11 (STK11) está descrito como tendo um papel na fisiologia do sistema imune(SI) e que alterações genéticas no mesmo podem influenciar negativamente a resposta dos pacientes à imunoterapia. Estudar alterações genéticas no gene STK11 em pacientes com cancro de pulmão sujeitos a imunoterapia e a sua possível associação com a resposta do doente à terapêutica. Após extraçãodo DNA de amostras de cancro pulmonar foi realizado um PCR multiplex para amplificação de 9 exões do geneSTK11, os quais foram sequenciados para pesquisa de alterações genéticas. Os pacientes foram divididos em dois grupos: “apresentaram boa resposta à terapia” e “apresentaram má resposta à terapia”, para efetuar curvas de sobrevivência que relacionam resposta à terapia com alterações em STK11. Foram detetadas e classificadas como patogénicas ou provavelmente patogénicas 13 alterações no gene STK11, não tendo sido identificada uma zona do gene ou exão com mais propensão a alterações. Pacientes com alterações no gene STK11 apresentaram pior sobrevida global e pior sobrevida livre de progressão de doença. Estes resultados sugerem que o gene STK11 deve ser estudado na sua totalidade aquando da decisão terapêutica e que deve ser incluído em painéis de Sequenciação de Nova Geração (NGS), uma vez que foram detetadas alterações neste gene com valor preditivo negativo na resposta à imunoterapia.
- Analyzing the Implementation of Lean Methodologies and Practices in the Portuguese Industry: A SurveyPublication . Pinto, Carla; Mendonça, Jorge; Babo, Lurdes; Silva, Francisco J. G.; Fernandes, José L. R.The mass production paradigm on which much of the industry was based has changed. The market is increasingly demanding, requesting diversity and products that are more and more adapted to personal wishes and requirements. This implies producing a greater diversity of products in smaller quantities. Competitiveness is enormous, which forces most companies to be truly effective and efficient, taking care of product quality, delivery time, and final cost. Lean methodologies have been a valuable aid in this field. The diversity of Lean tools has been shown to have answers to the most diverse challenges, and companies are aware of this, increasingly adopting methodologies and processes that aim to progressively reduce waste and adapting their production paradigm to what the market requires. This work intends to provide a vision, as global as possible, of the pathway of Lean implementation in the Portuguese industry. For this purpose, a survey was carried out with a significant sample of Portuguese industrial companies from a wide range of activity sectors. The data collected through the survey were treated statistically, and then a SWOT analysis of the results was performed, which provided a collection of precious information on the evolution of industrial companies in Portugal
- Association between maternal cardiometabolic risk factors and oral health of infantsPublication . Pestana, Rebeca Saad; Baptista, Manuel; Magalhães, Inês; Morais, Juliana; Ferreira, Ana Filipa; Marques, Sofia Cameron; Jerónimo, Maria Luís; Pinto, Carla; Sousa, Marta; Falcão-Pires, Inês; Duister, Denise; Zaura, Egija; Azevedo, Maria João; Maia, Benedita SampaioMaternal health conditions during pregnancy influence infant health1-3. Cardiometabolic risk factors (CRFs), such as obesity, hypertension, and gestational diabetes, increase maternal and neonatal complications due to chronic inflammation, which disrupts immune and endocrine adaptation4,5. While the effects of CRFs on infant development are well studied, their impact on oral health remains unclear. Therefore, this study aims to assess the association between maternal CRFs and oral health of infants at three years of age. The prospective OralBioBorn cohort follows pregnant women (healthy and with CRFs) and their children up to 36 months postpartum. At age three, oral hygiene habits, caries experience using ICDAS, and Quigley-Hein plaque index (PI) of children were assessed. PI was evaluated on buccal and lingual surfaces. Preliminary data from 36 children (26 from healthy mothers, 10 from mothers with CRFs) showed no cavitated, missing, or filled teeth due to caries, nor PUFA Index lesions, in either group. The PI did not differ significantly between children of healthy mothers and those of mothers with CRFs (0.17±0.32 vs. 0.49±0.72, p>0.05, Mann-Whitney U test). The lack of associations between maternal CRFs and child oral health may reflect multiple factors, including the small sample size, the young age of the children, and the possibility that maternal CRFs do not exert a strong early influence on oral health. Future work will focus on evaluating a larger cohort and considering additional determinants, such as oral hygiene and dietary habits, which may play a more prominent role in shaping early oral health outcomes. This will provide a deeper understanding of potential mediating factors influencing early oral health trajectories
- Book of Abstracts of the First International Conference - Building Bridges in STEAM Education in the 21st CenturyPublication . Soares, Filomena Baptista; Lopes, Ana Paula; Pinto, Carla; Mendonça, JorgeThe International Conference BBC'22 aims to provide an opportunity for all academic and non-academics to share their personal experiences and projects, presenting their contributions and getting feedback from other attendees.
- Breastfeeding and malocclusions: Characterization of a pediatric dentistry population enrolled in a birth cohort studyPublication . Marques, Sofia Cameron; Baptista, Manuel; Magalhães, Inês; Morais, Juliana; Ferreira, Ana Filipa; Pestana, Rebeca; Jerónimo, Maria Luís; Pinto, Carla; Sousa, Marta; Pires, Inês Falcão; Deuster, Denise; Zaura, Egija; Areias, Cristina; Maia, Benedita SampaioBreastfeeding plays an important role in the development of the craniofacial complex (1,2). However, the role of breastfeeding duration, non-nutritive sucking habits, and the timing of solid food introduction on the development of malocclusions is still in debate (25). Therefore, this study aimed to investigate these associations in a birth cohort. In the ongoing OralBioBorn birth cohort, occlusion of three-year-old children was assessed in maxiumum intercuspidation, examining the left and right sides, followed by a frontal assessment. In addition, the information on breastfeeding type and duration, solid food introduction, and non-nutritive sucking habits was collected through a parental questionnaire. Preliminary data from 39 children revealed a high prevalence of open bite (33.3%), crossbite (20.5%), and overbite (10.3%). Scissor bite, high/narrow palate, and crowding were observed in only one child each. The relationship between these occlusal characteristics and breastfeeding duration, non-nutritive sucking habits, and solid food introduction will be further explored. The preliminary findings suggest that malocclusions are frequent at an early age, reinforcing the need to investigate their potential early-life determinants. Future work will involve a more in-depth analysis of the associations between occlusal development and early feeding practices, considering additional factors such as genetic predisposition and environmental influences. Longitudinal follow-up of this cohort will provide valuable insights into the long-term impact of breastfeeding and oral habits on craniofacial growth, ultimately contributing to early preventive strategies.
- Combined germline and tumor mutation signature testing identifies new families with NTHL1 tumor syndromePublication . Pinto, Carla; Guerra, Joana; Pinheiro, Manuela; Escudeiro, Carla; Santos, Catarina; Pinto, Pedro; Porto, Miguel; Bartosch, Carla; Silva, João; Peixoto, Ana; Teixeira, Manuel R.NTHL1 tumor syndrome is an autosomal recessive rare disease caused by biallelic inactivating variants in the NTHL1 gene and which presents a broad tumor spectrum. To contribute to the characterization of the phenotype of this syndrome, we studied 467 index patients by KASP assay or next-generation sequencing, including 228 patients with colorectal polyposis and 239 patients with familial/personal history of multiple tumors (excluding multiple breast/ovarian/polyposis). Three NTHL1 tumor syndrome families were identified in the group of patients with polyposis and none in patients with familial/personal history of multiple tumors. Altogether, we identified nine affected patients with polyposis (two of them diagnosed after initiating colorectal cancer surveillance) with biallelic pathogenic or likely pathogenic NTHL1 variants, as well as two index patients with one pathogenic or likely pathogenic NTHL1 variant in concomitance with a missense variant of uncertain significance. Here we identified a novel inframe deletion classified as likely pathogenic using the ACMG criteria, supported also by tumor mutational signature analysis. Our findings indicate that the NTHL1 tumor syndrome is a multi-tumor syndrome strongly associated with polyposis and not with multiple tumors without polyposis.
- Complex order van der Pol oscillatorPublication . Pinto, Carla; Tenreiro Machado, J. A.In this paper it is considered a complex order van der Pol oscillator. A complex derivative D®§|¯, with ®; ¯ 2 R+ is a generalization of the concept of integer derivative, where ® = 1; ¯ = 0: By applying the concept of complex derivative, we obtain a high-dimensional parameter space. Amplitude and period values of the periodic solutions of the complex order van der Pol oscillator, are studied for variation of these parameters.
- Double power law behavior in everyday phenomenaPublication . Pinto, Carla; Lopes, António M.; Tenreiro Machado, J. A.We study similar statistical properties observed in distinct real world data. In particular, we focus on the power law (PL) distribution. We nd that some data is well tted by a single PL distribution whereas other phenomena force the use of two distinct PLs. This behavior is similar in, a priori, unrelated phenomena, such as catastrophes (terrorism, earthquakes) and variables associated to man-made systems, such as distribution of the number of words in texts or of the number of hits received by websites.
- Forced van der Pol oscillator of complex orderPublication . Pinto, Carla; Tenreiro Machado, J. A.In this paper it is considered a complex order forced van der Pol oscillator. The complex derivative Dα±jβ, with α, β ∈ R+ is a generalization of the concept of integer derivative, where α = 1, β = 0. We compute amplitude and period values of the periodic solutions of the complex order forced van der Pol oscillator, for variation of distinct parameters such as forcing frequency, forcing amplitude and parameters α and β. We find interesting quasi-periodic motion for certain values of the forcing frequency. This type of behaviour is seen in the continuous forced van der Pol oscillator.
- Fractional model for malaria diseasePublication . Pinto, Carla; Tenreiro Machado, J. A.In this paper we study a fractional order model for malaria transmission. It is considered the integer order model proposed by Chitnis et al [1] and we generalize it up to become a fractional model. The new model is simulated for distinct values of the fractional order. Are considered two initial conditions and a set of parameter values satisfying a value of the reproduction number, R0, less than one, for the integer model. In this case, there is co-existence of a stable disease free equilibrium and an endemic equilibrium. The results are in agreement with the integer order model and reveal that we can extend the dynamical evolution up to new types of transients. Future work will focus on analytically prove some of the results obtained.