Browsing by Author "Santos, AC"
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- A ansiedade e os sistemas de informação em enfermagem: elaboração de um catálogo CIPE®Publication . Sampaio, FM; Ribeiro, AM; Santos, ACContexto/Objetivos: Considerando a crescente importância dos sistemas de informação de Enfermagem em Portugal, bem como a necessidade de uma prática de Enfermagem cada vez mais baseada na evidência científica, o presente trabalho tem como principal objetivo a criação de um catálogo CIPE® para um foco de Enfermagem altamente prevalente na prática clínica: a ansiedade. Metodologia: Revisão sistemática da literatura através da análise de artigos científicos presentes nas bases de dados disponibilizadas pela EBSCO Host® (1995 a 2011), SciELO® e Web of Science® (sem datas pré-definidas) relativa aos dados relevantes e intervenções de Enfermagem para o diagnóstico “Ansiedade”. Resultados: A avaliação/vigilância da angústia, inquietação, movimento corporal, sono, nervosismo e preocupação é essencial para o diagnóstico/avaliação da ansiedade. As intervenções mais efetivas são, sobretudo, as intervenções psicoterapêuticas. A utilização de um instrumento psicométrico permite avaliar, de forma mais objetiva, os progressos realizados pela pessoa com ansiedade. Conclusões: A elaboração de catálogos CIPE® permite o desenvolvimento dos sistemas de informação de Enfermagem (SIE), constituindo ainda o caminho para uma prática de Enfermagem cada vez mais baseada na evidência científica. Ainda assim, seria fundamental, em termos de progresso, que os SIE acompanhassem a evolução que se tem vindo a verificar ao nível da linguagem classificada.
- Complete blood count parameters as biomarkers of retinopathy of prematurity: a Portuguese multicenter studyPublication . Fevereiro-Martins, M; Santos, AC; Marques-Neves, C; Guimarães, H; Bicho, M; Afonso, C; Ferreira, J; Espírito Santo, R; Teixeira, F; Rosa, R; Carneiro, CV; Ferreira, M; Matos, T; Neiva, L; Pereira, S; Aires, S; Parreira, R; Melnik, Z; Faria, J; Teixeira, J; Barros, P; Almeida, J; Malheiro, B; Rodrigues, PC; Albuquerque, L; Freitas, A; Barros, P; Kotchekova, N; Freitas, R; Silveira, AC; Ferreira, A; Morais, B; Teixeira, S; Mota, M; Guerra, M; Coimbra, L; Gigante, J; Ferreira, M; Lapa, P; Monteiro, M; Alfaiate, M; Rodrigues, T; Pina, T; Rosário, M; Silva, R; Breda, J; Bazenga, F; Pinto, JAPurpose: To evaluate complete blood count (CBC) parameters in the first week of life as predictive biomarkers for the development of retinopathy of prematurity (ROP). Methods: Multicenter, prospective, observational study of a cohort of preterm infants born with gestational age (GA) < 32 weeks or birth weight < 1500 g in eight Portuguese neonatal intensive care units. All demographic, clinical, and laboratory data from the first week of life were collected. Univariate logistic regression was used to assess risk factors for ROP and then multivariate regression was performed. Results: A total of 455 infants were included in the study. The median GA was 29.6 weeks, and the median birth weight was 1295 g. One hundred and seventy-two infants (37.8%) developed ROP. Median values of erythrocytes (p < 0.001), hemoglobin (p < 0.001), hematocrit (p < 0.001), mean corpuscular hemoglobin concentration (p < 0.001), lymphocytes (p = 0.035), and platelets (p = 0.003) of the group of infants diagnosed with ROP any stage were lower than those without ROP. Mean corpuscular volume (MCV) (p = 0.044), red blood cell distribution width (RDW) (p < 0.001), erythroblasts (p < 0.001), neutrophils (p = 0.030), neutrophils-lymphocytes ratio (p = 0.028), and basophils (p = 0.003) were higher in the ROP group. Higher values of MCV, erythroblasts, and basophils remained significantly associated with ROP after multivariate regression. Conclusion: In our cohort, the increase in erythroblasts, MCV, and basophils in the first week of life was significantly and independently associated with the development of ROP. These CBC parameters may be early predictive biomarkers for ROP.
- Fatores angiogénicos modulados pelo perfil de plaquetas na insuficiência cardíacaPublication . Matos, A; Barbosa, M; Sequeira, T; Santos, AC; Bicho, M; Falcão, LM
- Fetal Hemoglobin as a Predictive Biomarker for Retinopathy of Prematurity: A Prospective Multicenter Cohort Study in PortugalPublication . Fevereiro-Martins, M; Aguiar, L; Inácio, Â; Cardoso, C; Santos, AC; Marques-Neves, C; Guimarães, H; Pinto, R; Bicho, MBackground/Objectives: Retinopathy of prematurity (ROP) is a leading cause of vision impairment in preterm infants, with its pathogenesis linked to oxygen exposure. Red blood cell (RBC) transfusions, commonly performed in neonatal intensive care units (NICUs), reduce fetal hemoglobin (HbF) fraction, altering oxygen dynamics and potentially contributing to ROP. We aimed to investigate the relationship between RBC transfusions, HbF percentage, and ROP, evaluating HbF as a potential predictive biomarker. Methods: A multicenter, prospective study was conducted across eight Portuguese NICUs, involving infants born at <32 weeks gestational age (GA) or <1500 g. ROP staging followed the International Classification of ROP (ICROP2). Clinical data were collected during hospitalization, and HbF fractions were measured from blood samples in the first four weeks of life using standardized methods. Infants were stratified by ROP presence and treatment requirement. Statistical analysis was performed using SPSS 28.0, with p < 0.05. Results: Eighty-two infants (mean GA: 28.1 ± 2.1 weeks, birth weight: 1055.8 ± 258.3 g) were included. Among them, 29 (35.4%) presented ROP and 4 (4.9%) required treatment. Infants with ROP had more RBC transfusions and lower HbF percentages than those without ROP (p < 0.05). Lower HbF was associated with more RBC transfusions (p < 0.001). Kaplan-Meier survival curves showed a higher ROP risk in infants with reduced HbF (p < 0.05). Conclusions: Low HbF percentage in the first four weeks of life may increase ROP risk in preterm infants. HbF could serve as a biomarker for ROP prediction. Interventions preserving HbF may reduce ROP risk. Further studies are needed to validate HbF as a biomarker and refine prevention strategies.
- Genetic Modulation of the Erythrocyte Phenotype Associated with Retinopathy of Prematurity—A Multicenter Portuguese Cohort StudyPublication . Fevereiro-Martins, M; Santos, AC; Marques-Neves, C; Guimarães, H; Bicho, MThe development of retinopathy of prematurity (ROP) may be influenced by anemia or a low fetal/adult hemoglobin ratio. We aimed to analyze the association between DNA methyltransferase 3 β (DNMT3B) (rs2424913), methylenetetrahydrofolate reductase (MTHFR) (rs1801133), and lysine-specific histone demethylase 1A (KDM1A) (rs7548692) polymorphisms, erythrocyte parameters during the first week of life, and ROP. In total, 396 infants (gestational age < 32 weeks or birth weight < 1500 g) were evaluated clinically and hematologically. Genotyping was performed using a MicroChip DNA on a platform employing iPlex MassARRAY®. Multivariate regression was performed after determining risk factors for ROP using univariate regression. In the group of infants who developed ROP red blood cell distribution width (RDW), erythroblasts, and mean corpuscular volume (MCV) were higher, while mean hemoglobin and mean corpuscular hemoglobin concentration (MCHC) were lower; higher RDW was associated with KDM1A (AA), MTHFR (CC and CC + TT), KDM1A (AA) + MTHFR (CC), and KDM1A (AA) + DNMT3B (allele C); KDM1A (AA) + MTHFR (CC) were associated with higher RDW, erythroblasts, MCV, and mean corpuscular hemoglobin (MCH); higher MCV and MCH were also associated with KDM1A (AA) + MTHFR (CC) + DNMT3B (allele C). We concluded that the polymorphisms studied may influence susceptibility to ROP by modulating erythropoiesis and gene expression of the fetal/adult hemoglobin ratio.
- Influence of Functional Variations in Genes of Neurotrophins and Neurotransmitter Systems on the Development of Retinopathy of PrematurityPublication . Fevereiro-Martins, M; Santos, AC; Marques-Neves, C; Guimarães, H; Bicho, Mfirst_pagesettingsOrder Article Reprints Open AccessArticle Influence of Functional Variations in Genes of Neurotrophins and Neurotransmitter Systems on the Development of Retinopathy of Prematurity by Mariza Fevereiro-Martins 1,2,3,4,*,Ana Carolina Santos 1,2ORCID,Carlos Marques-Neves 1,2,5,Hercília Guimarães 6ORCID,Manuel Bicho 1,2,3ORCID andon behalf of the GenE-ROP Study Group † 1 Faculdade de Medicina, Universidade de Lisboa, Av. Professor Egas Moniz, 1649-028 Lisboa, Portugal 2 Grupo Ecogenética e Saúde Humana, Instituto de Saúde Ambiental-ISAMB, Laboratório Associado Terra, Faculdade de Medicina, Universidade de Lisboa, Av. Professor Egas Moniz, 1649-028 Lisboa, Portugal 3 Instituto de Investigação Científica Bento da Rocha Cabral, Calçada Bento da Rocha Cabral 14, 1250-012 Lisboa, Portugal 4 Departamento de Oftalmologia, Hospital Cuf Descobertas, Rua Mário Botas, 1998-018 Lisboa, Portugal 5 Centro de Estudos das Ciências da Visão, Faculdade de Medicina, Universidade de Lisboa, Av. Professor Egas Moniz, Piso 1C, 1649-028 Lisboa, Portugal 6 Departamento de Ginecologia-Obstetrícia e Pediatria, Faculdade de Medicina, Universidade do Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal * Author to whom correspondence should be addressed. † Collaborators of the study group are included in the Acknowledgments. Int. J. Mol. Sci. 2025, 26(3), 898; https://doi.org/10.3390/ijms26030898 Submission received: 7 December 2024 / Revised: 20 January 2025 / Accepted: 20 January 2025 / Published: 22 January 2025 (This article belongs to the Special Issue Molecular Aspects of Retinopathy and Protection) Downloadkeyboard_arrow_down Browse Figure Review Reports Versions Notes Abstract Retinal neurodevelopment, vascularization, homeostasis, and stress response are influenced by factors such as nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), tyrosine hydroxylase (TH), and erythropoietin (EPO). As retinopathy of prematurity (ROP) is a neurovascular retinal disease, this study analyzed the contributions of NGF (rs6330), BDNF (rs7934165), TH (rs10770141), and EPO (rs507392) genetic functional polymorphisms to the modulation of hematological and biochemical parameters of the first week of life and their association with ROP development. A multicenter cohort of 396 preterm infants (gestational age < 32 weeks or birth weight < 1500 g) was genotyped using MicroChip DNA and iPlex MassARRAY® platform. Multivariate regression followed univariate assessment of ROP risk factors. NGF (GG) genotype was associated with a higher ROP risk (OR = 1.79), which increased further (OR = 2.38) when epistatic interactions with TH (allele C) and BDNF (allele G) were present. Significant circulating biomarker differences, including bilirubin, erythrocytes, monocytes, neutrophils, lymphocytes, and platelet markers, were found between ROP and non-ROP groups, with variations depending on the polymorphism. These findings suggest that NGF (rs6330) and its interactions with related genes contribute to ROP risk, providing valuable insights into the genetic and biological mechanisms underlying the disease and identifying potential predictive biomarkers.
- Retinopathy of Prematurity in Eight Portuguese Neonatal Intensive Care Units: Incidence, Risk Factors, and Progression—A Prospective Multicenter StudyPublication . Fevereiro-Martins, M; Santos, AC; Marques-Neves, C; Bicho, M; Guimarães, HBackground/Objectives: Retinopathy of prematurity (ROP) is a retinal neovascular disease affecting preterm infants. Identifying risk factors for its development and progression is critical for effective screening and prevention. This study aimed to analyze the incidence of ROP and identify key risk factors for its development and progression. Methods: We conducted a prospective, observational cohort study on 455 neonates (gestational age [GA] < 32 weeks or birth weight < 1500 g) across eight Portuguese NICUs. Results: ROP incidence was 37.8%, with 4.6% requiring treatment. Multivariate analysis identified low GA and the number of red blood cell (RBC) transfusions as significant factors for ROP development and progression. After adjusting for these variables, platelet transfusions, high maximum fraction of inspired oxygen (FiO2) in the second week, and surfactant use remained significantly associated with ROP development, while early and late sepsis, maternal chronic hypertension, and delayed enteral nutrition were associated with progression to ROP requiring treatment. Conclusions: These findings underscore the importance of addressing low GAs and adult RBC transfusions in ROP risk management and suggest that maximum FiO2, platelet transfusions, and sepsis also play crucial roles. Larger studies are needed to validate these results and explore preventive interventions, particularly regarding the impact of multiple adult RBC transfusions on fetal hemoglobin percentages.
- Spectrum of CFTR gene sequence variants in a northern Portugal populationPublication . Grangeia, A.; Alves, S.; Gonçalves, L; Gregório, I; Santos, AC; Barros, H; Barros, A; Carvalho, F; Moura, CIn Portugal, the spectrum of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variants is not known. The main objective of this work was to determine the type and frequency of CFTR variants in a sample from northern Portugal by the complete analysis of the CFTR coding sequencing performed in 512 Portuguese children. A total of 30 different CFTR sequence variants, already reported as cystic fibrosis (CF) or CFTR related disorders variants, were detected. Ninety-two children (18.0%; 95%CI: 14.7-21.6) were found to be carriers of one sequence variant and 8 (1.6%; 95%CI: 0.7-3.1) had two sequence variants. Taking into consideration only variants that may cause CF when combined with a pathogenic CF variant, the CF pathogenic variant carrier frequency was 3.3% (95%CI: 1.9-5.3). One (0.2%; 95%CI: 0.01-0.7) child presented two CF pathogenic variants. CONCLUSIONS: The majority of CFTR variants detected have been associated with a less severe CF phenotype. A wide spectrum of CFTR variants was identified, confirming the highest CFTR allelic heterogeneity previously reported in Mediterranean country. Additionally, better knowledge about the CFTR sequence variation spectrum may contribute to more efficient genetic testing in the Portuguese population.