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- Nutritional assessment in preterm infants: a practical approach in the NICUPublication . Pereira-da-Silva, Luís; Virella, Daniel; Fusch, ChristophA practical approach for nutritional assessment in preterm infants under intensive care, based on anthropometric measurements and commonly used biochemical markers, is suggested. The choice of anthropometric charts depends on the purpose: Fenton 2013 charts to assess intrauterine growth, an online growth calculator to monitor intra-hospital weight gain, and Intergrowth-21st standards to monitor growth after discharge. Body weight, though largely used, does not inform on body compartment sizes. Mid-upper arm circumference estimates body adiposity and is easy to measure. Body length reflects skeletal growth and fat-free mass, provided it is accurately measured. Head circumference indicates brain growth. Skinfolds estimate reasonably body fat. Weight-to-length ratio, body mass index, and ponderal index can assess body proportionality at birth. These and other derived indices, such as the mid-upper arm circumference to head circumference ratio, could be proxies of body composition but need validation. Low blood urea nitrogen may indicate insufficient protein intake. Prealbumin and retinol binding protein are good markers of current protein status, but they may be affected by non-nutritional factors. The combination of a high serum alkaline phosphatase level and a low serum phosphate level is the best biochemical marker for the early detection of metabolic bone disease.
- Bioinformatic pipeline specification language and sharing systemPublication . Dantas, Bruno Miguel das Neves; Vaz, Cátia Raquel Jesus; Simão, José Manuel de Campos Lages GarciaO projeto Infraestrutura de suporte à execução de fluxos de trabalho para a bioinfor matica, daqui em diante designado NGSPipes, é uma ferramenta para criação e execução de fluxos de execução de processamento e análise em serie de dados NGS(Next Generations Sequencing). O projeto NGSPipes[24] foi desenvolvido no âmbito da tese final de curso da Licenciatura em Engenharia Informática e de Computadores no Instituto Superior de Engenharia de Lisboa. O projeto NGS Pipes tem como principal objetivo, auxiliar a comunidade científica na criação e execução de pipelines de cariz biológica sem a necessidade de conhecimentos de programação. O projeto Linguagens e modelos de partilha para fluxos de trabalho de ferramentas bioinformaticas, é uma extensão do projeto NGSPipes. Este projeto tem como principal objetivo estender o NGSPipes adicionando funcionalidades essenciais para o desenvolvimento e partilha de pipelines. Para realizar esta extensão, o sistema NGSPipes foi comparado com outros sistemas de modo a definir um conjunto de características essenciais ao desenvolvimentos de pipelines. Após esta comparação, definimos uma nova linguagem de especificação mantendo as vantagens da versão anterior do NGSPipes e adicionando primitivas de paralelismo e definição de argumentos. Para permitir a cooperação entre membros da comunidade, foi desenvolvida uma plataforma para que os utilizadores possam partilhar as suas ferramentas e pipelines.
- Overdiagnosis of COPD in subjects with unobstructed spirometryPublication . Sator, Lea; Horner, Andreas; Studnicka, Michael; Lamprecht, Bernd; Kaiser, Bernhard; McBurnie, Mary Ann; Buist, A. Sonia; Gnatiuc, Luisa; Mannino, David M.; Janson, Christer; Bateman, Eric D.; Burney, Peter; Zhong, NanShan; Liu, Shengming; Lu, Jiachun; Ran, Pixin; Wang, Dali; Zheng, Jingping; Zhou, Yumin; Kocabaş, Ali; Hancioglu, Attila; Hanta, Ismail; Kuleci, Sedat; Turkyilmaz, Ahmet Sinan; Umut, Sema; Unalan, Turgay; Studnicka, Michael; Dawes, Torkil; Lamprecht, Bernd; Sator, Lea; Bateman, Eric; Jithoo, Anamika; Adams, Desiree; Barnes, Edward; Freeman, Jasper; Hayes, Anton; Hlengwa, Sipho; Johannisen, Christine; Koopman, Mariana; Louw, Innocentia; Ludick, Ina; Olckers, Alta; Ryck, Johanna; Storbeck, Janita; Gislason, Thorarinn; Benedikdtsdottir, Bryndis; Jörundsdottir, Kristin; Gudmundsdottir, Lovisa; Gudmundsdottir, Sigrun; Gundmundsson, Gunnar; Nizankowska-Mogilnicka, Ewa; Frey, Jakub; Harat, Rafal; Mejza, Filip; Nastalek, Pawel; Pajak, Andrzej; Skucha, Wojciech; Szczeklik, Andrzej; Twardowska, Magda; Welte, Tobias; Bodemann, Isabelle; Geldmacher, Henning; Schweda-Linow, Alexandra; Gulsvik, Amund; Endresen, Tina; Svendsen, Lene; Tan, Wan C.; Wang, Wen; Mannino, David M.; Cain, John; Copeland, Rebecca; Hazen, Dana; Methvin, Jennifer; Dantes, Renato B.; Amarillo, Lourdes; Berratio, Lakan U.; Fernandez, Lenora C.; Francisco, Norberto A.; Garcia, Gerard S.; de Guia, Teresita S.; Idolor, Luisito F.; Naval, Sullian S.; Reyes, Thessa; Roa, Camilo C.; Sanchez, Ma. Flordeliza; Simpao, Leander P.; Jenkins, Christine; Marks, Guy; Bird, Tessa; Espinel, Paola; Hardaker, Kate; Toelle, Brett; Burney, Peter G.J.; Amor, Caron; Potts, James; Tumilty, Michael; McLean, Fiona; Wouters, E.F.M.; Wesseling, G.J.; Bárbara, Cristina; Rodrigues, Fátima; Dias, Hermínia Brites; Cardoso, João; Almeida, João; Matos, Maria João; Simão, Paula; Santos, Moutinho; Ferreira, Reis; Janson, Christer; Olafsdottir, Inga Sif; Nisser, Katarina; Spetz-Nyström, Ulrike; Hägg, Gunilla; Lund, Gun-Marie; Jõgi, Rain; Laja, Hendrik; Ulst, Katrin; Zobel, Vappu; Lill, Toomas-Julius; Koul, Parvaiz A.; Malik, Sajjad; Hakim, Nissar A.; Khan, Umar Hafiz; Chowgule, Rohini; Shetye, Vasant; Raphael, Jonelle; Almeda, Rosel; Tawde, Mahesh; Tadvi, Rafiq; Katkar, Sunil; Kadam, Milind; Dhanawade, Rupesh; Ghurup, Umesh; Harrabi, Imed; Denguezli, Myriam; Tabka, Zouhair; Daldoul, Hager; Boukheroufa, Zaki; Chouikha, Firas; Khalifa, Wahbi Belhaj; Idolor, Luisito F.; de Guia, Teresita S.; Francisco, Norberto A.; Roa, Camilo C.; Ayuyao, Fernando G.; Tady, Cecil Z.; Tan, Daniel T.; Banal-Yang, Sylvia; Balanag, Vincent M.; Reyes, Maria Teresita N.; Dantes, Renato B.; Juvekar, Sanjay; Hirve, Siddhi; Sambhudas, Somnath; Chaidhary, Bharat; Tambe, Meera; Pingale, Savita; Umap, Arati; Umap, Archana; Shelar, Nitin; Devchakke, Sampada; Chaudhary, Sharda; Bondre, Suvarna; Walke, Savita; Gawhane, Ashleshsa; Sapkal, Anil; Argade, Rupali; Gaikwad, Vijay; Salvi, Sundeep; Brashier, Bill; Londhe, Jyoti; Madas, Sapna; Obaseki, Daniel; Erhabor, Gregory; Awopeju, Olayemi; Adewole, OlufemiBackground: There are several reports on the underdiagnosis of COPD, while little is known about COPD overdiagnosis and overtreatment. We describe the overdiagnosis and the prevalence of spirometrically defined false-positive COPD, as well as their relationship with overtreatment across 23 population samples in 20 countries participating in the BOLD Study between 2003 and 2012. Methods: A false-positive diagnosis of COPD was considered when participants reported a doctor's diagnosis of COPD, but postbronchodilator spirometry was unobstructed (FEV1/FVC > LLN). Additional analyses were performed using the fixed ratio criterion (FEV1/FVC < 0.7). Results: Among 16,177 participants, 919 (5.7%) reported a previous medical diagnosis of COPD. Postbronchodilator spirometry was unobstructed in 569 subjects (61.9%): false-positive COPD. A similar rate of overdiagnosis was seen when using the fixed ratio criterion (55.3%). In a subgroup analysis excluding participants who reported a diagnosis of "chronic bronchitis" or "emphysema" (n = 220), 37.7% had no airflow limitation. The site-specific prevalence of false-positive COPD varied greatly, from 1.9% in low- to middle-income countries to 4.9% in high-income countries. In multivariate analysis, overdiagnosis was more common among women, and was associated with higher education; former and current smoking; the presence of wheeze, cough, and phlegm; and concomitant medical diagnosis of asthma or heart disease. Among the subjects with false-positive COPD, 45.7% reported current use of respiratory medication. Excluding patients with reported asthma, 34.4% of those with normal spirometry still used a respiratory medication. Conclusions: False-positive COPD is frequent. This might expose nonobstructed subjects to possible adverse effects of respiratory medication.
- Unusual β-globin haplotype distribution in newborns from Bengo, AngolaPublication . Borges, Eliana; Tchonhi, Chissengo; Couto, Cátia S. B.; Gomes, Verónica; Amorim, Antonio; Prata, Maria João; Brito, MiguelMutations on the HBB gene are a common cause of hemoglobinopathies, including sickle cell anemia, a severe genetic condition that constitutes a major public health concern. The aim of this study was to determine the prevalence of sickle cell anemia and β-globin haplotype distribution in newborns from the Bengo region. The first two exons of β-globin gene were sequenced, and the variability at the single nucleotide polymorphism (SNP) defining the Hb S (HBB: c.20A>T) haplotypes, was analyzed by a SNaPshot® Multiplex system. About 3.3% of the children were homozygous for Hb S, and 82.2% had as background the Bantu/Central African Republic (BAN/CAR) haplotype, 11.2% the Benin (BEN) and 6.6% the Senegal (SEN). The estimate of Hb S reached the very high value of 0.1476 ± 0.0133, with the aggravating factor of 82.2% of the sickle alleles being anchored in the BAN/CAR haplotype, associated with the more severe sickle cell anemia phenotypes. Also, the high prevalence of the SEN haplotype was not expected, having therapeutic consequences since is associated with more severe outcomes. In addition, two β-thalassemia (β-thal) variants were also detected, IVS I-110 (G>A) (HBB: c.93-21G>A) and codon 39 (C>T) (HBB: c.118C>T), together totaling a frequency of 1.3%. Some of the newborns with these mutations were compound heterozygotes for Hb S, likely carrying genotypes consistent with sickle cell disease. As a whole, infants molecularly diagnosed with sickle cell disease accounted for 4.5% of newborns from Bengo, Angola, a figure that per se, highlights the urgent need of implementing policies warranting surveillance of these children, in parallel with community education in the region.
- From centrosomal microtubule anchoring and organization to basal body positioning: TBCCD1 an elusive proteinPublication . Carmona, Bruno; Camelo, Carolina; Mehraz, Manon; Lemullois, Michel; Ferreira, David C.; Nolasco, Sofia; Lince-Faria, Mariana; Marino, H. Susana; Bettencourt-Dias, Mónica; Tassin, Anne-Marie; Koll, France; Soares, HelenaCilia are microtubule-based organelles that protrude from the cell surface and fulfill critical motility and sensory functions being required for normal embryonic development and for homeostasis of human adult tissues. Cilia loss or dysfunction is associated with human ciliopathies. At their base cilia have a centriole/basal body (BB), which can be derived from the centrosome and assembles the ciliary axoneme. This process requires the correct positioning/anchoring of the centrosome’s mother centriole/BB to the cell membrane. A clear picture of the different signals and players involved in centrosome positioning/anchoring is still not available. Published work from our group identified a new centrosomal TBCC domain-containing human protein (TBCCD1) that is involved in centrosome correct positioning and primary cilia assembly. In mammalian cells, TBCCD1 is observed at pericentriolar satellites, in basal bodies of primary and motile cilia and at primary cilia ciliopathy hot domain, the transition zone. Super-resolution microscopy shows that TBCCD1 is localized at the distal region of the centrosome and its depletion dramatically affects the centrosome subdistal protein CEP170, a component of primary and motile cilia basal feet. By doing a proximity-dependent biotin identification (BioID-MS) screen for TBCCD1 interactors several well-known proteins encoded by ciliopathy genes were identified, e.g. the centrosomal proteins OFD1 and Moonraker/KIAA0753 associated with Digital Syndrome 1 and Joubert syndrome, respectively. OFD1 and Moonraker are required for the maintenance of centrosome structure and both proteins localization is dramatically disturbed by TBCCD1 depletion. To clarify the role of human TBCCD1 in cilia biogenesis we used the ciliate Paramecium. Noteworthy, in Paramecium TBCCD1 knockdown causes abnormal basal body associated rootlets organization, anomalous BB positioning/anchoring defects. Our data using human cells and the ciliate Paramecium support a role of TBCCD1 in centrosome structure maintenance and BB anchoring at the cell membrane. The Paramecium phenotypes confirm that TBCCD1 is a new candidate to a ciliopathic gene probably by founding the TBCCD1/Moonraker/OFD1 functional conserved module required for cilia assembly.
- Determinants of maternal health care and birth outcome in the Dande Health and Demographic Surveillance System area, AngolaPublication . Rosário, Edite Vila Nova; Gomes, Manuel Carmo; Brito, Miguel; Costa, DiogoMaternal health care improvement and reduction of maternal and child mortality are priorities of the global health agenda. In Angola, maternal mortality remains high and the risk of pregnancy-related death was 1 in 32 during 2015. This study aims to identify demographic and social factors influencing antenatal care and health facility delivery among women in Dande and to understand their impact on birth outcomes. Methods: This study is based on community-based longitudinal data collected by the Dande Health and Demographic Surveillance System between 2009 and 2015. Data on pregnancy outcomes (10,289 outcomes of 8,066 women) were collected for all reported pregnancies, including sociodemographic information, health services utilization and women's reproductive history. Logistic regression was used to investigate the determinants of birth outcomes, antenatal care attendance, and institutionalized delivery. Findings: Of the 10,289 pregnancy outcomes, 98.5% resulted in live births, 96.8% attended antenatal care, and 82.5% had four or more visits. Yet, 50.7% of the women delivered outside a health facility. Antenatal care attendance was a determinant of birth outcomes (stillbirth: unadjusted OR = 0.34 95% CI = 0.16-0.70; abortion: OR = 0.07 95% CI = 0.04-0.12). Older women, with lower education, living at a greater distance of a health facility and in rural areas, were less likely to use maternal health care. Having had previous pregnancies, namely resulting in live births, also decreased the likelihood of health care utilization by pregnant women. Conclusions: The study identifies relevant social determinants for the utilization of antenatal care, place of delivery and their impact on birth outcome, thereby providing insight on how best to address inequities in health care utilization.
- Assessing physical activity and functional fitness level using convolutional neural networksPublication . Galán-Mercant, Alejandro; Ortiz, Andrés; Herrera-Viedma, Enrique; Tomás, Maria Teresa; Fernandes, Beatriz; Moral-Munoz, Jose A.Older adults are related to a reduction in physical functionality, as a result of a musculoskeletal system degeneration. In that way, physical exercise has been stated as a suitable intervention to prevent such health problems. Therefore, an adequate assessment of the physical activity and functional fitness levels is needed to plan the individualized intervention. A broad test used to assess the functional fitness level is the 6-minutes walk test (6MWT). It has been previously measured using accelerometer sensors. In views of this background, the main aim of the present study is to use deep learning to extract automatically and to predict the physical activity and functional fitness levels of the older adults through the acceleration signals recorded by a smartphone during the 6MWT. A total of 17 participants were recruited. Anthropometric measurements (weight, height, and body mass index), physical activity, and functional fitness levels from each participant were recorded. Consecutively, two deep learning-based methods were applied to determine the prediction. According to the results, the proposed method can predict physical activity and functional fitness levels with high accuracy, even using only one cycle. Thus, the approach described in the present work could be implemented in future mobile health systems to identify the physical activity profile of older adults.
- Environmentally relevant concentrations of Bisphenol A interact with doxorubicin transcriptional effects in human cell linesPublication . Ribeiro, Edna; Delgadinho, Mariana; Brito, MiguelThe worldwide production of synthetic chemicals, including endocrine disruptor chemicals (EDCs), such as Bisphenol A (BPA) has increased significantly in the last two decades. Human exposure to BPA, particularly through ingestion, is continuous and ubiquitous. Although considered a weak environmental estrogen, BPA can induce divergent biological responses through several signaling pathways, including carcinogenesis in hormone-responsive organs. However, and despite the continuous increase of tumor cell-resistance to therapeutic drugs, such as doxorubicin (DOX), information regarding BPA drug interactions is still scarce, although its potential role in chemo-resistance has been suggested. This study aims to assess the potential interactions between environmentally relevant levels of BPA and DOX at a therapeutic dosage on Hep-2 and MRC-5 cell lines transcriptome. Transcriptional effects in key-player genes for cancer biology, namely c-fos, p21, and bcl-xl, were evaluated through qRT-PCR. The cellular response was analyzed after exposure to BPA, DOX, or co-exposure to both chemicals. Transcriptional analysis showed that BPA exposure induces upregulation of bcl-xl and endorses an antagonistic non-monotonic response on DOX transcriptional effects. Moreover, the BPA interaction with DOX on c-fos and p21 expression emphasize its cellular specificity and divergent effects. Overall, Hep-2 was more susceptible to BPA effects in a dose-dependent manner while MRC-5 transcriptional levels endorsed a non-monotonic response. Our data indicate that BPA environmental exposure may influence chemotherapy outcomes, which emphasize the urgency for a better understanding of BPA interactions with chemotherapeutic agents, in the context of risk assessment.
- An approach based on fuzzy logic, to improve quality management on research and development centersPublication . Santos, Ricardo; Abreu, António; Calado, João Manuel FerreiraNowadays, with globalization and with the development of emergent economies the Research and Development (R&D) Centres in Europe to survive need to achieve high levels of excellence. In this way, the use of a quality management tools, such as European Foundation for Quality Management (EFQM), can help the managers of such organizations to identify de best practices to enhance the efficiency and effectiveness. Hence, this paper presents a new approach to support managers of R&D centres in the decision-making process in achieving the aims mentioned above, which is based on the EFQM model integrated with Fuzzy Logic. The proposed approach was applied to a Portuguese R&D Centre to assess its overall performance. In order to evaluate the robustness of the proposed approach, the results achieved were compared with the results obtained through a traditional methodology based on RADAR’s Logic.
- Anuário científico da Escola Superior de Tecnologia da Saúde de Lisboa - 2018Publication . Biblioteca da ESTeSLO Anuário Científico 2018 da Escola Superior de Tecnologia da Saúde de Lisboa (ESTeSL), tal como as sete edições que lhe antecederam, teve como objetivo sintetizar a produção científica dos docentes, não docentes e estudantes da ESTeSL durante o ano referido. Neste documento encontram-se incluídas publicações em livro e revistas da especialidade, resumos de comunicações orais e pósters apresentados em eventos científicos e, ainda, os resultados dos trabalhos de mestrado e de investigação no âmbito da licenciatura, defendidos pelos estudantes da ESTeSL em 2018. Este documento permite, por conseguinte, não só evidenciar um retrato fiel da investigação científica desenvolvida na ESTeSL, a qual denota uma tendência de crescimento anual, mas também a interrelação desta com as profissões das Tecnologias de Diagnóstico e Terapêutica. Por último, saliente-se que, tal como os números anteriores, o Anuário Científico 2018 será exclusivamente publicado em formato eletrónico, tendo em atenção a sustentabilidade do planeta e o Galardão Eco-Escolas da ESTeSL.