89 results on '"Vaz, Fátima"'
Search Results
2. Occupational second-hand smoke exposure: A comparative shotgun proteomics study on nasal epithelia from healthy restaurant workers
- Author
-
Neves, Sofia, Pacheco, Solange, Vaz, Fátima, James, Peter, Simões, Tânia, and Penque, Deborah
- Published
- 2024
- Full Text
- View/download PDF
3. The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2
- Author
-
Hinić, Snežana, Cybulski, Cezary, Van der Post, Rachel S., Vos, Janet R., Schuurs-Hoeijmakers, Janneke, Brugnoletti, Fulvia, Koene, Saskia, Vreede, Lilian, van Zelst-Stams, Wendy A.G., Kets, C. Marleen, Haadsma, Maaike, Spruijt, Liesbeth, Wevers, Marijke R., Evans, D. Gareth, Wimmer, Katharina, Schnaiter, Simon, Volk, Alexander E., Möllring, Anna, de Putter, Robin, Soikkonen, Leila, Kahre, Tiina, Tooming, Mikk, de Jong, Mirjam M., Vaz, Fátima, Mensenkamp, Arjen R., Genuardi, Maurizio, Lubinski, Jan, Ligtenberg, Marjolijn, Hoogerbrugge, Nicoline, and de Voer, Richarda M.
- Published
- 2024
- Full Text
- View/download PDF
4. Ovarian carcinoma in patients with BRCA mutation - a correlation between the growing pattern of peritoneal implants evaluated by CT/MRI and the genotype BRCA1 and BRCA2
- Author
-
Vieira, Ana Catarina, Antunes, Natalie, Damasceno, Eduarda, Ramalho, Madalena, Esteves, Susana, Vaz, Fátima, Félix, Ana, and Cunha, Teresa Margarida
- Published
- 2020
- Full Text
- View/download PDF
5. Comparing Prognosis for BRCA1 , BRCA2 , and Non-BRCA Breast Cancer.
- Author
-
Antunes Meireles, Pedro, Fragoso, Sofia, Duarte, Teresa, Santos, Sidónia, Bexiga, Catarina, Nejo, Priscila, Luís, Ana, Mira, Beatriz, Miguel, Isália, Rodrigues, Paula, and Vaz, Fátima
- Subjects
BREAST cancer prognosis ,GENETIC mutation ,SALPINGO-oophorectomy ,BRCA genes ,TREATMENT effectiveness ,COMPARATIVE studies ,CANCER patients ,DESCRIPTIVE statistics ,RISK management in business ,PROGRESSION-free survival ,PREVENTIVE medicine ,MASTECTOMY ,BREAST tumors ,LONGITUDINAL method ,OVERALL survival ,CANCER genetics ,SYMPTOMS - Abstract
Simple Summary: Approximately 10% of breast cancer (BC) cases are hereditary, and germline pathogenic variants in BRCA1 and BRCA2 genes account for 20% of familial BC cases. Long-term follow-up data related to the prognosis and survival of either BRCA1 or BRCA2 BC patients are conflicting. The aim of this study is to report the analysis of our cohort of BRCA1/2 BC patients included in prospective follow-up after genetic testing. We compared clinicopathological characteristics and prognosis between BC patients with BRCA1 and BRCA2 and a control group without germline PV (BRCA-wt). The presence of BRCA mutation confers a higher risk of relapse and death in patients with BC in the Portuguese population. Prophylactic mastectomy and preventive salpingo-oophorectomy confer lower incidence of relapse and longer median invasive disease-free survival and overall survival, respectively. Background: Germline pathogenic variants (PV) in BRCA1 and BRCA2 genes, which account for 20% of familial breast cancer (BC) cases, are highly penetrant and are associated with Hereditary Breast/Ovarian Cancer Syndrome. Previous studies, mostly including higher numbers of BRCA1 BC patients, yielded conflicting results regarding BRCA1/2 BC outcomes. In the Portuguese population, BRCA2 BC is diagnosed more frequently than BRCA1 BC. We aimed to compare clinicopathological characteristics and prognosis between BC patients with BRCA1 and BRCA2 mutations and a control group without germline PV (BRCA-wt). Furthermore, we explored the frequency and outcomes of risk-reducing surgeries in BRCA-mutated patients. Methods: Prospective follow-up was proposed for patients with a diagnosed BRCA1/2 PV. For this study, a matched control group (by age at diagnosis, by decade, and by stage at diagnosis) included BC patients without germline PV. We compared overall survival (OS) and invasive disease-free survival (iDFS) within the three groups, and the use of risk-reducing surgeries among the BRCA cohort. Results: For a mean follow-up time of 113.0 months, BRCA-wt patients showed longer time to recurrence (p = 0.002) and longer OS (p < 0.001). Among patients with BRCA mutations, no statistical differences were found, although patients with BRCA2 BC had longer iDFS and OS. Uptake of risk-reducing surgeries (contralateral prophylactic mastectomy and salpingo-oophorectomy) were negative predictors of invasive disease and death, respectively. Conclusions: Testing positive for a BRCA PV is associated with a higher risk of relapse and death in patients with BC in the Portuguese population. Risk-reducing mastectomy and salpingo-oophorectomy were associated with lower incidence of relapse and longer median iDFS and OS, respectively. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
6. Current perspectives on recommendations for BRCA genetic testing in ovarian cancer patients
- Author
-
Vergote, Ignace, Banerjee, Susana, Gerdes, Anne-Marie, van Asperen, Christi, Marth, Christian, Vaz, Fatima, Ray-Coquard, Isabelle, Stoppa-Lyonnet, Dominique, Gonzalez-Martin, Antonio, Sehouli, Jalid, and Colombo, Nicoletta
- Published
- 2016
- Full Text
- View/download PDF
7. Is There a Role for Risk-Reducing Bilateral Breast Surgery in BRCA1/2 Ovarian Cancer Survivors? An Observational Study.
- Author
-
Oliveira, Daniela, Fernandes, Sofia, Miguel, Isália, Fragoso, Sofia, and Vaz, Fátima
- Subjects
BREAST surgery ,OVARIAN cancer ,CANCER survivors ,SCIENTIFIC observation ,OVERALL survival ,OVARIAN function tests - Abstract
Background: Risk-reducing surgeries are an option for cancer risk management in BRCA1/2 individuals. However, while adnexectomy is commonly recommended in breast cancer (BC) survivors, risk-reducing bilateral breast surgery (RRBBS) is controversial in ovarian cancer (OC) survivors due to relapse rates and mortality. Methods: We conducted a retrospective analysis of BRCA1/2-OC survivors, with OC as first cancer diagnosis. Results: Median age at OC diagnosis for the 69 BRCA1/2-OC survivors was 54 years. Median overall survival was 8 years, being significantly higher for BRCA2 patients than for BRCA1 patients (p = 0.011). Nine patients (13.2%) developed BC at a median age of 61 years. The mean overall BC-free survival was 15.5 years (median not reached). Eight patients (11.8%) underwent bilateral mastectomy (5 simultaneous with BC treatment; 3 RRBBS) at a median age of 56.5 years. The median time from OC to bilateral mastectomy/RRBBS was 5.5 years. Conclusions: This study adds evidence regarding a lower BC risk after BRCA1/2-OC and higher survival for BRCA2-OC patients. A comprehensive analysis of the competing risks of OC mortality and recurrence against the risk of BC should be individually addressed. Surgical BC risk management may be considered for longer BRCA1/2-OC disease-free survivors. Ultimately, these decisions should always be tailored to patients' characteristics and preferences. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
8. Overview of proteomics studies in obstructive sleep apnea
- Author
-
Feliciano, Amélia, Torres, Vukosava Milic, Vaz, Fátima, Carvalho, Ana Sofia, Matthiesen, Rune, Pinto, Paula, Malhotra, Atul, Bárbara, Cristina, and Penque, Deborah
- Published
- 2015
- Full Text
- View/download PDF
9. Occupational secondhand smoke exposure may modify the proteoma expression of human nasal epithelium
- Author
-
Neves, Sofia, Pacheco, Solange, Vaz, Fátima, Torres, Vukosava Milic, James, Peter, Simões, Tânia, and Penque, Deborah
- Subjects
Secondhand Smoke Exposure ,Second Hand Smoke ,Genómica Funcional e Estrutural ,Genómica Funcional ,Tobacco ,Proteoma Expression ,SHS Exposure ,humanities ,Epithelium ,Human Nasal - Abstract
The tobacco is one of the biggest public health threats, smoking kills more than 7 million people/year worldwide and more than 890,000 are deaths resulting from exposure to Second Hand Smoke (SHS). In adults, SHS is associated to cardiovascular and respiratory diseases, including coronary heart disease and lung cancer, through pathological and molecular mechanisms not yet understood. We aimed to investigate the SHS effects on airway proteome in exposed workers. Nasal epithelium was collected from hospitality workers (non-smokers=40; smokers=12), long-term exposed and non-exposed to SHS at the workplace. Samples were analyzed by shotgun proteomics using an ESI-LQT Orbitrap XL mass spectrometer. The generated MS raw data was submitted to ‘PatternLab for Proteomics’ for peptide identification and relative quantification by label-free - extracted ion chromatograms (XIC). Golden rules were applied to obtain reliable data: in the identification of a protein at least one unique peptide must had to be present in more than 80% of the individuals, and consequently each inferred protein had to be detected in 80% to 100% of the cohort. Two proteins were found to be differentially expressed in the no-smokers exposed to SHS compared with the control: BPI fold-containing family A member 1 (BPIFA1) and Heat shock Protein Beta-1 (HSPB1). The first protein plays a role in the airway inflammatory response after exposure to irritants substances and the second is associated as a regulator of actin filament dynamics. Our findings support the indication that in non-smokers the prolonged exposure to SHS can lead to airway proteome modulation. When validated, the uncovered proteins can be promising candidates to “susceptibility/risk” and/or “predictive” biomarkers for SHS exposure. Gulbenkian Institute of Science; Fundação para a Ciência e a Tecnologia (FCT); National Institute of Health Dr. Ricardo Jorge; Faculty of Sciences of the University of Lisbon; Protein Technology Laboratory - Department of Immunotecnology, Lund University, Sweden; Center of Toxicogenomics and Human Health. N/A
- Published
- 2022
10. Investigating the impact of COVID-19 vaccines on the red blood cell immune function by omics-based approaches
- Author
-
Saraiva, Joana, Coelho, Cristina Valentim, Vaz, Fátima, Antunes, Marilia, Neves, Sofia, Ricardo, Peliano, Andrade, Odília, Miranda, Armandina, Melo, Aryse, Roque, Carla, Guiomar, Raquel, Mohammad, Hamza, Soares, Nelson, and Penque, Deborah
- Subjects
Genómica Funcional e Estrutural ,COVID-19 Vaccines ,Genómica Funcional ,RBC immunomodulators ,Role of Red Blood Cells ,COVID-19 - Abstract
The role of red blood cells (RBC) in the immune system is increasingly recognized. However, RBC-derived molecules with an immunomodulatory role in health and disease, as well as in vaccine immunogenicity are still poorly investigated. Taking as a model the emergent COVID-19 vaccines, we aimed to investigate whether vaccines induce proteome and/or metabolome changes in RBCs able to affect T-cell immune activity, as a mechanistic test for vaccine immunization regulated by RBCs. Our ultimate goal is to identify RBC immunomodulators as potential co-adjuvants in the formulation of next-generation vaccines with bolstered efficacy and duration. A biobank of blood samples collected longitudinally under ‘omics’ quality control from subjects (n=39) that underwent vaccination for COVID-19 between April and September 2021 was created. This biobank is associated with extensive clinical data, including demographic data, COVID-19 PCR diagnosis, hematological and vaccine effectivity data. Linear Mixed Models, were used to evaluate the association between biometrical characteristics, health related habits, vaccine technology and vaccine effectivity and hematological parameters, along the different time-points (t0-t4) under study, i.e, before and after (24-72h or 30 days) of the first and second dose of vaccine. Statistical analyses were performed using R software version 4.1.2. Results showed significant differences (p
- Published
- 2022
11. Occupational secondhand smoke exposure - A proteomic analysis
- Author
-
Neves, Sofia, Pacheco, Solange, Vaz, Fátima, Simões, Tania, James, Peter, Simões, Tânia, and Penque, Deborah
- Subjects
Second Hand Smoke ,Proteomics ,Genómica Funcional e Estrutural ,Genómica Funcional ,Tobacco - Abstract
Background: WHO have stated that near 900 000 deaths per year result from exposure to Second- Hand Smoke (SHS). SHS exposure has been linked to cancer, respiratory and cardiovascular diseases and diabetes. However, the associated underlying molecular mechanisms remain to be elucidated. The objective of this proteomics study is to uncover putative key molecules involved in these mechanisms that can be used to predict and monitor diseases risks associated with occupational SHS exposure. Methods: In total, 25 Lisbon restaurants agreed to participate. Nasal epithelium and urine samples were collected from their employees (n=52) for proteomics analysis and cotinine evaluation of SHS exposure, respectively. The subjects were classified as never smoker (N), former smoker (F) and smoker (S); exposed (NE=11; FE=10; SE=4) or non-exposed (N=11; F=8; S=8) to SHS. All subjects were healthy and showed no significant differences in parameters like age, time in the workplace, tobacco smoking habits and spirometry evaluation of pulmonary function. Urine cotinine levels showed significantly elevated in the exposed subjects compared to non-exposed, confirming SHS exposure. Nasal epithelium samples were analyzed by shotgun proteomics using an ESI-LTQOrbitrap mass spectrometer. The “MS raw data” was submitted to “PatternLab for Proteomics” software, with “Comet” search machine algorithm, from where the identified proteins were submitted to a “ClueGO” functional annotation & enrichment analyses in “Cytoscape” software, with the propose to shed some light about the molecular biology involved in the cellular response to the SHS exposition. Results: In NE subjects the SHS is associated with the biologic terms of “Lactate dehydrogenase complex” and “Pentose-Phosphatase Shunt”, also with “Glutathione peroxidase activity” and “Tcell apoptotic process”. At the other end the FE individuals present a specific proteome enriched in biologic information with terms as the “L-Lactate dehydrogenase complex” and the “Peroxisome” as was expected by the results above for the NE cohort; but there were also other different terms as: “Peripheral T cell lymphoma”, “Central carbon metabolism in cancer”, “Myelodysplastic syndrome”, “Monocyte & Granulocyte & Macrophage & Leukocyte Chemotaxis”, Nucleossome, variant H3.1-H2A2-H2B.1&Others” and finally “DNA replication-dependent chromatin assembly”. Conclusions: Proteome of nasal epithelium seems to be modulated by SHS exposure and this is a different and perhaps cumulative process between NE and FE individuals. Acknowledgements: Gulbenkian Foundation and Administração Central do Sistema de Saúde, and ToxOmics Portugal. SN, SP and VMT worked under FCT fellowships. info:eu-repo/semantics/draft
- Published
- 2022
12. A possible approach for gel-based proteomic studies in recalcitrant woody plants
- Author
-
Sebastiana, Mónica, Figueiredo, Andreia, Monteiro, Filipa, Martins, Joana, Franco, Catarina, Coelho, Ana Varela, Vaz, Fátima, Simões, Tânia, Penque, Deborah, Pais, Maria Salomé, and Ferreira, Sílvia
- Published
- 2013
- Full Text
- View/download PDF
13. Effect and Susceptibility Biomarkers in Workers From Lisbon Restaurants and Bars
- Author
-
Vital, Nádia, Antunes, Susana, Louro, Henriqueta, Vaz, Fátima, Simões, Tânia, Penque, Deborah, Silva, Maria João, Centre for Toxicogenomics and Human Health (ToxOmics), and NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
- Subjects
SDG 3 - Good Health and Well-being ,human biomonitoring ,second-hand smoke ,genotoxicity ,Public Health, Environmental and Occupational Health ,occupational exposure ,challenge assay - Abstract
Funding: This work was funded by the Portuguese institutions Fundação Calouste Gulbenkian, Administração Central do Sistema de Saúde (ACSS) and FCT/MCTES through funding to ToxOmics (UIDB/00009/2020; UIDP/00009/2020). Environmental tobacco smoke (ETS) has been recognized as a major health hazard by environmental and public health authorities worldwide. In Portugal, smoke-free laws are in force for some years, banning smoking in most indoor public spaces. However, in hospitality venues such as restaurants and bars, owners can still choose between a total smoke-free policy or a partial smoking restriction with designated smoking areas, if adequate reinforced ventilation systems are implemented. Despite that, a previous study showed that workers remained continuously exposed to higher ETS pollution in Lisbon restaurants and bars where smoking was still allowed, comparatively to total smoke-free venues. This was assessed by measurements of indoor PM2.5 and urinary cotinine, a biomarkers of tobacco smoke exposure, demonstrating that partial smoking restrictions do not effectively protect workers from ETS. The aim of the present work was to characterize effect and susceptibility biomarkers in non-smokers from those hospitality venues occupationally exposed to ETS comparatively to non-exposed ones. A group of smokers was also included for comparison. The sister chromatid exchange (SCE), micronucleus (MN) and comet assays in whole peripheral blood lymphocytes (PBLs) and the micronucleus assay in exfoliated buccal cells, were used as biomarkers of genotoxicity. Furthermore, a comet assay after ex vivo challenge of leukocytes with an alkylating agent, ethyl methanesulfonate (EMS), was used to analyze the repair capacity of those cells. Genetic polymorphisms in genes associated with metabolism and DNA repair were also included. The results showed no clear association between occupational exposure to ETS and the induction of genotoxicity. Interestingly, the leukocytes from non-smoking ETS-exposed individuals displayed lower DNA damage levels in response to the ex vivo EMS challenge, in comparison to those from non-exposed workers, suggesting a possible adaptive response. The contribution of individual susceptibility to the effect biomarkers studied was unclear, deserving further investigation. publishersversion published
- Published
- 2021
14. Zeolite-coated ceramic foams for VOCs removal
- Author
-
Silva, Elisabete, Catalão, Rita, Silva, João, Vaz, Fátima, Oliveira, Fernando, Ribeiro, Fernando R., Magnoux, Patrick, Belin, Thomas, and Ribeiro, Filipa
- Published
- 2008
- Full Text
- View/download PDF
15. Obstructive sleep apnea associated with Diabetes mellitus Type 2: a proteomic study
- Author
-
Vaz, Fátima, Valentim-Coelho, Cristina, Neves, Sofia, Feliciano, Amelia, Antunes, Marília, Pinto, Paula, Barbara, Cristina, and Penque, Deborah
- Subjects
Diabetes Tipo 2 ,Genómica Funcional e Estrutural ,Obstructive Sleep Apnea ,Proteómica ,SAOS ,Genómica Funcional ,Peroxirredoxina 2 ,Diabetes Mellitus Type 2 - Abstract
Background: We previously showed that Obstructive sleep apnea (OSA), a common public health concern causing deleterious cardiometabolic dysfunction, induced proteomic alterations in red blood cells (RBC) such as changes in the redox-oligomeric state of peroxiredoxin 2 (PRDX2)1-2. Herein, we aimed to investigate whether OSA patients with Type 2 Diabetes Mellitus before and after positive airway pressure (PAP) treatment present similar changes in the RBC antioxidant protein PRDX2 to better understand the molecular basic mechanisms associated with OSA and OSA outcomes. Methods: RBC samples from control snorers (n=22 being 3 diabetics) and OSA patients before and after six month of PAP-treatment (n=29 being 8 diabetics) were analysed by non-reducing western blot using antibody against PRDX2 or PRDXSO2/3 to measure the total and overoxidized levels of monomeric/dimeric/multimeric forms of PRDX2. Results: We confirmed previously data by showing that in OSA RBC the overoxidation on the monomeric forms of PRDX2 was higher compared to controls. After PAP treatment, this overoxidation decreased followed by an increase of multimeric-overoxidized forms of PRDX2 described to be associated with chaperone protective function. In contrast, the level of PRDX2 monomers in RBC diabetic OSA, although higher abundant its overoxidation level was much lower than those observed in OSA without comorbidity and did not significant change after treatment. Moreover, the level of PAP-induced PRDX2-overoxidized-multimers was also lower in these diabetic OSA patients. The level of overoxidized monomeric/dimeric forms of PRDX2 correlated negatively with levels of insulin / triglycerides and HbA1C, respectively. After PAP, the level of (overoxidized) PRDX2SO2/3 multimers correlated positively with adrenaline levels. Conclusions: The redox/oligomeric state of RBC PRDX2 that is regulated by overoxidation of the active cysteines was differentially modulated in diabetic OSA patients compared to OSA without this comorbidity. PAP-induced overoxidized oligo forms of PRDX2 that is associated with chaperone protective function showed decreased in OSA patients with diabetes. The clinical impact of these findings needs further investigation and validation. Project partially supported by Harvard Medical School-Portugal Program (HMSP-ICJ/0022/2011), ToxOmics - Centre for Toxicogenomics and Human Health (FCT-UID/BIM/00009/2013). info:eu-repo/semantics/publishedVersion
- Published
- 2019
16. Sickle-cell disease investigated by computational proteomics approaches
- Author
-
Costa, André, Neves, Sofia, Vaz, Fátima, Martins, Inês L., James, Peter, Lavinha, João, and Penque, Deborah
- Subjects
Sickle-cell Disease ,Genómica Funcional e Estrutural ,Proteome ,Genómica Funcional ,Vaso-occlusion Exacerbation ,Biomarkers ,Doenças Genéticas - Abstract
Sickle-cell disease (SCD) is a clinically heterogeneous autosomal recessive monogenic disorder characterized by recurrent episodes of severe haemolysis, vaso-occlusion and infection. Proteomics promises to offer novel unbiased molecular insights into the pathophysiology of SCD. The objective of this project is to analyze by bioinformatic tools mass spectrometry (MS) proteomics raw data, which has been generated by INSA’s Proteomic Laboratory in order to investigate proteome changes that might be related with SCD vaso-occlusion exacerbation. The MS raw data included in this study was generated by shotgun proteomic analysis on red blood cell (RBC) samples from six child SCD patients at steady-state and vaso-occlusion exacerbation episode and five child control subjects. The RBC samples, the haemoglobin depleted-cytoplasmic fraction and membrane fraction, were analysed by proteomic discovery-based approach using the ESI-LQT Orbitrap XL (Thermo) mass spectrometer. The generated MS raw data files were analysed by the PatternLab for Proteomic 4.0 bioinformatic platform for protein identification and extracted-ion chromatograms (XICs)-based label-free relative quantification. The following “golden parameters” were applied to obtain reliable and trustworthy data: one unique peptide at least should be considered to infer a protein identification, and the identified proteins should be present at least in 80% of the studied groups/conditions. 250 proteins were identified, and the respective normalized ion abundance factor was compared by using the Wilcoxon-T non-parametric statistical test. The differentially expressed proteins in crisis as compared to steady-state (p-value ≤ 5%) were investigated in the light of the Gene Ontology (GO) knowledge base (Database for Annotation, Visualization and Integrated Discovery – DAVID) and Reactome database for protein integration into signaling pathways with biological meaning. The most relevant results indicated that 3 cytoplasmic proteins (Dematin, Moesin and Protein S100-A4) and 9 membrane proteins (Eosinophil cationic protein, Bone marrow proteoglycan, Voltage-dependent anion-selective channel protein 1, Voltage-dependent anion-selective channel protein 2, Reticulon-3, Carbonic anhydrase 2, Haemoglobin subunit alpha, Haemoglobin subunit delta and Eosinophil peroxidase) showed significantly differential expression in crisis as compared to steady-state. Haemoglobin subunit alpha and Carbonic anhydrase 2 (CA2) have been reported as involved in important pathways related with O2/CO2 exchange in erythrocytes. Sickle cell crisis is frequently related to infection, involving Reticulon-3 and Haemoglobin subunit alpha. These proteins were identified to be modulated in the RBC membrane fraction from SCD patients at crisis. The most relevant proteins identified by these computational approaches will be selected for further biochemical verification by using SWATH-MS and/or Western blot methods. These proteins may be promising candidate early biomarkers to identify SCD patients at risk for vaso-occlusion crisis. Fundação para a Ciência e a Tecnologia partially financing this project (Grant PIC/IC/83084/2007 and Doctoral Fellowship - SFRH/BPD/31209/2006). N/A
- Published
- 2019
17. Obstructive Sleep Apnea: a proteomics study of the effects of positive airway pressure therapy
- Author
-
Valentim-Coelho, Cristina, Vaz, Fátima, Martins, Inês L., Feliciano, Amélia, Pinto, Paula, Cristina, Bárbara, and Penque, Deborah
- Subjects
Genómica Funcional e Estrutural ,Obstructive Sleep Apnea ,stomatognathic system ,Proteome ,Genómica Funcional ,GAPDH ,Red Blood Cells ,PRDX2 ,Positive Arway Pressure - Abstract
Obstructive Sleep Apnea (OSA) syndrome is a common public health concern characterized by recurrent episodes of apneas and hypopneas during sleep. These obstructive events result in recurrent intermittent hypoxia and sleep fragmentation that can lead to metabolic and cardiovascular diseases. We recently demonstrated that OSA can cause alterations in the red blood cells (RBC) proteome that may be associated with OSA outcomes1,2. Here we intend to investigate whether the first-line therapy for OSA, the positive airway pressure (PAP) can revert or modulate these proteome alterations. RBCs from Snorers and patients with severe OSA before/after 6 months of PAP treatment (n=10/condition) were depleted of hemoglobin, analyzed by 2D-DIGE using Progenesis SameSpotsv4.5. The differentially abundant proteins were identified by MALDI-MS/MS and protein annotations acquired by DAVIDv6.8. Western blotting (WB) validation was performed for Glyceraldehyde-3-phosphate dehydrogenase (GAPDH) and (overoxidized) GAPDHSO3 on a new Cohort (n=59). SPSS software was used to correlation studies with peroxiredoxin-2 (PRDX2) redox-oligomeric forms and several clinical parameters. Ten protein spots showed significant differences (Anova p
- Published
- 2019
18. Effects of positive airway pressure therapy on red blood cells in patients with obstructive sleep apnea
- Author
-
Coelho-Valentim, Cristina, Vaz, Fátima, Barbara, Cristina, and Penque, Deborah
- Subjects
Proteomics ,Genómica Funcional e Estrutural ,Obstructive Sleep Apnea ,Genómica Funcional ,Positive Airway Pressure ,Apneia Obstrutiva Sono ,respiratory tract diseases - Abstract
Introduction: Obstructive Sleep Apnea (OSA) syndrome is characterized by recurrent arousals from sleep and intermittent hypoxemia. We recently demonstrated that OSA can cause alterations in the red blood cells (RBC) proteome that may be associated with OSA outcomes. Here we intend to investigate whether the positive airway pressure (PAP) treatment can revert/modulate these proteome alterations. Project partially supported by Harvard Medical School-Portugal Program (HMSP-ICJ/0022/2011), ToxOmics - Centre for Toxicogenomics and Human Health (FCT-UID/BIM/00009/2013). N/A
- Published
- 2019
19. Identificação do distress em portadores de BRCA1/2: um estudo prospectivo
- Author
-
Moura, Maria Jesus, Vaz, Fátima, Dupont, Juliete, Rodrigues, Paula, Coelho, Irina, Luis, Ana, Clara, Ana, Bento, Sandra, Esteves, Susana, and Parreira, Joana
- Subjects
Risk perception ,lcsh:R5-920 ,lcsh:Public aspects of medicine ,BRCA carrier ,Predictive Factors ,Hereditary Cancer ,lcsh:RA1-1270 ,Psychological distress ,lcsh:Medicine (General) - Abstract
Introdution:The period of time elapsed after receiving apositive test result, has been previouslyassociated with distress inBRCA1/2carriers.However,there is a need for reliable instruments andprospective data on distress and perception of riskbythose carriers,given the significant increase indemandforBRCA1/2testing.Aim:Tovalidate and implement in clinical practice,an instrumentfor the detection ofdistress andanalysis ofrisk perception,in individuals that test positive for aBRCA1/2test.Materials and Methods:We conducted a prospective study todesign and test an instrument(Distress andRisk PerceptionQuestionnaire-DRP)to evaluate distress andrisk perceptionbyBRCA1/2carriers.Predictivefactors for clinically relevantdistress,were also explored.Results:One hundred and seventy consecutive, newly diagnosedBRCA1/2carrierswere included(pre-test phase: 21 and test:149). Distress was measured with the distress thermometer (DT) andDRP, both applied, bytelephone, one month after test disclosure. Clinically relevant distresswas observed in 40% of the cases.Being a female (OR male vs female=0.37; 95%CI=0.10-1.09) and index patient (OR index vs relative=3.93; 95%CI=1.13-18.37) were independent predictors for distress after adjusting for personal history of cancer.Therisk perceptionwas highand no significant correlation with distress was observed with either DT orDRP(Spearman correlation coefficient0.05 in both).Conclusion:DRPis a new scale, easy to administer bytelephone, whichmeasures distress andrisk perceptioninBRCA1/2carriers.Gender and type of genetic screening(being an index patient or a relative)mayplay a role in the short-term emotional impact of a positiveBRCAtest result. , Introdução:ODistressidentificado emportadores demutaçõesBRCA1/2foi previamente associado ao período de tempo, decorrido desde o conhecimento do resultado do teste.Atendendo ao aumento da procura para realizartestes genéticossão necessáriosdados prospectivos sobreoDistresseapercepção de risconosportadores de variantes patogénicasBRCA1/2.Objetivo:Desenvolver evalidarum questionário dirigido para mediroDistresse a percepção de risco em portadores deBRCA1/2.Materiais e Métodos:Neste estudo, decaraterprospectivo, foi elaboradoe testado um instrumento(QuestionáriodeDistressePercepção deRisco-DPR)que avaliaoDistressea percepção de riscoem portadoresdeBRCA1/2.Foram também exploradosfactores preditivos paraoDistressclinicamente relevante.Resultados:Foram analisados cento e setenta portadores deBRCA1/2recém diagnosticados(21 na fase pré-testee149na fase teste),identificados de forma consecutiva. Mediu-se oDistresscom o termómetrodeDistress(DT) ecom oDPR, ambosaplicadosatravés de entrevistatelefónica, um mês após a comunicação dos resultadosdo teste genético. Em 40% dos casos observou-seDistressclinicamente relevante; sendo que o génerofeminino(ORmasculinovsfeminino=0,37; 95%CI=0.10-1.09) easituação de seroprimeiro familiar a ser testado(doenteíndex)(ORindexvsfamiliar=3.93; 95%CI=1.13-18.37)foram identificados como factorespredictoresindependentes paraoDistress.A percepção de risco individual e familiar foi alta e não se observouobservoucorrelação significativadestacomoDistress,medido tantocom DTcomo com o DPR(coeficiente de correlaçãoSpearman0,05 em ambos).Conclusão:OquestionárioDPRé uma escala nova, fácil de administrar por via telefónica, que medeoDistresseapercepçãode risco em portadores BCRA1/2.As doentes mulherese asituação de primeiro familiar a ser testado(doenteindex)são factores preditores do impacto emocional,acurto prazo, de um resultado positivo no teste genéticoBCRA1/2. 
- Published
- 2019
- Full Text
- View/download PDF
20. Human natural killer cell development in a xenogeneic culture system
- Author
-
Barão, Isabel, Vaz, Fátima, Almeida-Porada, Graça, Srour, Edward F., Zanjani, Esmail D., and Ascensão, João L.
- Published
- 2002
- Full Text
- View/download PDF
21. Challenges and Considerations on Risk-Reducing Surgery in BRCA1/2 Patients with Advanced Breast Cancer.
- Author
-
Vasconcelos de Matos, Leonor, Fernandes, Leonor, Louro, Pedro, Plácido, Ana, Barros, Manuel, and Vaz, Fátima
- Subjects
BREAST cancer ,METASTATIC breast cancer ,INCURABLE diseases ,OVARIAN cancer ,PATIENT preferences - Abstract
Cancer survivors harboring inherited pathogenic variants in the breast cancer (BC) susceptibility genes BRCA1 or BRCA2 are at increased risk of ovarian cancer (OC) and also of contralateral BC. For these women, risk-reducing surgery (RRS) may contribute to risk management. However, women with locally advanced or metastatic breast cancer (ABC) were excluded from clinical trials evaluating the benefit of these procedures in the BRCA1/2 carriers, and thus, current guidelines do not recommend RRS in this specific setting. Although ABC remains an incurable disease, recent advances in treatment have led to increased survival, which, together with improvement in RRS techniques, raise questions about the potential role of RRS in the management of BRCA1/2 ABC patients. When should RRS be discussed as an option for BRCA1/2 patients diagnosed with ABC? To address this issue, we report two clinical cases that reflect new challenges in routine oncology practice. Team experience and patient motivations may shape multidisciplinary decisions in the absence of evidence-based data. A wise rationale may be the analysis of the competing risks of death by a previous ABC against risk of death by a secondary BC or OC, tailored to patient preferences. [ABSTRACT FROM AUTHOR]
- Published
- 2021
- Full Text
- View/download PDF
22. Recurrent ovarian cancer: maintenance treatment with PARP inhibitors in clinical practice
- Author
-
Oliveira, Ines, Mira, Beatriz, Fragoso, Sofia, Opinião, Ana, Cardoso, Catarina, Guimarães, António, and Vaz, Fátima
- Published
- 2021
- Full Text
- View/download PDF
23. Prevalence study of BRCA1/2 mutations in Portuguese patients diagnosed with non-mucinous ovarian cancer, fallopian tube invasive neoplasia or peritoneal primary cancer (PADOC)
- Author
-
Cardoso, Catarina, Vaz, Fatima, Nabais, Henrique, Frutuoso, Cristina, Couto, M Rosario, Broco, Sofia, de Sousa, Rita Teixeira, Costa, Andreia, Gaspar, Hugo, Nave, Monica, Fragoso, Sofia, Peixoto, Ana, Pereira, Deolinda, and Teixeira, Manuel
- Published
- 2021
- Full Text
- View/download PDF
24. Evening and morning peroxiredoxin-2 redox/oligomeric state changes in obstructive sleep apnea red blood cells
- Author
-
Feliciano, Amélia, Vaz, Fátima, Torres, Vukosava M., Valentim-Coelho, Cristina, Silva, Rita, Prosinecki, Vesna, Alexandre, Bruno M., Carvalho, Ana S., Matthiesen, Rune, Malhotra, Atul, Pinto, Paula, Bárbara, Cristina, Penque, Deborah, Centre for Toxicogenomics and Human Health (ToxOmics), and NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
- Subjects
Molecular Medicine ,Peroxiredeoxin-2 ,Red blood cells ,Obstructive sleep apnea ,Molecular Biology ,Biomarkers - Abstract
Funding: Project partially supported by Harvard Medical School-Portugal Program (HMSPICJ/0022/2011), ToxOmics - Centre for Toxicogenomics and Human Health (FCT-UID/BIM/00009/2013), FCT/Poly-Annual Funding Program and FEDER/Saúde XXI Program (Portugal) and postdoctoral fellowship (SFRH/BPD/43365/2008) of Fundação para a Ciência e a Tecnologia (FCT), Portugal. We have examined the effects of Obstructive Sleep Apnea (OSA) on red blood cell (RBC) proteome variation at evening/morning day time to uncover new insights into OSA-induced RBC dysfunction that may lead to OSA manifestations. Dysregulated proteins mainly fall in the group of catalytic enzymes, stress response and redox regulators such as peroxiredoxin 2 (PRDX2). Validation assays confirmed that at morning the monomeric/dimeric forms of PRDX2 were more overoxidized in OSA RBC compared to evening samples. Six month of positive airway pressure (PAP) treatment decreased this overoxidation and generated multimeric overoxidized forms associated with chaperone/transduction signaling activity of PRDX2. Morning levels of overoxidized PRDX2 correlated with polysomnographic (PSG)-arousal index and metabolic parameters whereas the evening level of disulfide-linked dimer (associated with peroxidase activity of PRDX2) correlated with PSG parameters. After treatment, morning overoxidized multimer of PRDX2 negatively correlated with fasting glucose and dopamine levels. Overall, these data point toward severe oxidative stress and altered antioxidant homeostasis in OSA RBC occurring mainly at morning time but with consequences till evening. The beneficial effect of PAP involves modulation of the redox/oligomeric state of PRDX2, whose mechanism and associated chaperone/transduction signaling functions deserves further investigation. RBC PRDX2 is a promising candidate biomarker for OSA severity and treatment monitoring, warranting further investigation and validation. publishersversion published
- Published
- 2017
25. Editorial.
- Author
-
da Silva, Lucas FM, Kumar, Digavalli Ravi, Vaz, Fátima, and Carbas, Ricardo
- Published
- 2024
- Full Text
- View/download PDF
26. Occupational exposure to environmental tobacco smoke in hospitality venues: are genetic- or proteomics-based biomarkers predictive of respiratory diseases?
- Author
-
Silva, M.J., Vital, Nádia, Pacheco, Solange, Antunes, Susana, Neves, Sofia, Louro, Henriqueta, Torre, Vukosava M., Vaz, Fátima, James, Peter, Lopes, Carlos, Marçal, Nelson, Bugalho de Almeida, António, Simões, Tânia, and Penque, Deborah
- Subjects
Occupational Exposure ,Environmental Genotoxicity ,Biomonitoring ,Tobaco Smoke ,Genotoxicidade Ambiental - Abstract
Environmental tobacco smoke (ETS) is recognized as an occupational hazard in the hospitality industry. Although Portuguese legislation banned smoking in most indoor public spaces, it is still allowed in some restaurants/bars, representing a potential risk to the workers’ health, particularly for chronic respiratory diseases. The aims of this work were to characterize biomarkers of early genetic effects and to disclose proteomic signatures associated to occupational exposure to ETS and with potential to predict respiratory diseases development. A detailed lifestyle survey and clinical evaluation (including spirometry) were performed in 81 workers from Lisbon restaurants. ETS exposure was assessed through the level of PM 2.5 in indoor air and the urinary level of cotinine. The plasma samples were immunodepleted and analysed by 2D-SDSPAGE followed by in-gel digestion and LC-MS/MS. DNA lesions and chromosome damage were analysed innlymphocytes and in exfoliated buccal cells from 19 cigarette smokers, 29 involuntary smokers, and 33 non-smokers not exposed to tobacco smoke. Also, the DNA repair capacity was evaluated using an ex vivo challenge comet assay with an alkylating agent (EMS). All workers were considered healthy and recorded normal lung function. Interestingly, following 2D-DIGE-MS (MALDI-TOF/TOF), 61 plasma proteins were found differentially expressed in ETS-exposed subjects, including 38 involved in metabolism, acute-phase respiratory inflammation, and immune or vascular functions. On the other hand, the involuntary smokers showed neither an increased level of DNA/chromosome damage on lymphocytes nor an increased number of micronuclei in buccal cells, when compared to non-exposed non-smokers. Noteworthy, lymphocytes challenge with EMS resulted in a significantly lower level of DNA breaks in ETS-exposed as compared to non-exposed workers (P
- Published
- 2016
27. Proteomics of Red Blood Cells from Patients with Obstructive Sleep Apnea
- Author
-
Feliciano, Amelia, Bozanic, Vesna, Torres, Vukosava Milic, Matthiesen, Rune, Carvalho, Ana S., Almeida, Andreia, Alexandre, Bruno, Vaz, Fátima, Malhotra, Atul, Pinto, Paula, Bárbara, Cristina, and Penque, Deborah
- Subjects
Apneia Obstrutiva do Sono ,Proteómica ,Cardiovascular Disease ,Obstructive sleep Apnea ,Biomarkers ,Doenças Genéticas - Abstract
This work was approved by the Ethical Committee of INSA.I.P.-Lisboa, Centro Hospitalar Lisboa-Norte., Faculdade de Ciências Médicas da Universidade Nova de Lisboa and Comissão Nacional de Proteção de Dados, Portugal. DIGE images were obtained in ITQB. Obstructive sleep apnea (OSA) is a common public health concern causing metabolic and cardiovascular consequences. Although OSA is a systemic disease, the molecular mechanisms and specific genes/proteins associated with such processes remain poorly defined.To identify dysregulated proteins that could be useful as candidate biomarkers of diagnosis/prognosis of OSA., is the aim of this study Project - Obstructive sleep apnea and associated metabolic/cardiovascular disorders: understanding mechanisms towards early diagnosis and prognosis prediction. Work partially supported by Harvard Medical School-Portugal Program (HMSP-ICJ/0022/2011), FCT/Poly-Annual Funding Program and FEDER/Saúde XXI Program (Portugal)
- Published
- 2015
28. Obstructive Sleep Apnea: New insights into antioxidant activity and cellular response to stress
- Author
-
Vaz, Fátima, Feliciano, Amélia, Silva, Ana Rita, Coelho, Cristina, Torres, Vukosava Millic, Bozanic, Vesna, Malhotra, Atul, Pinto, Paula, Bárbara, Cristina, and Penque, Deborah
- Subjects
Proteomics ,Apneia Obstrutiva do Sono ,Antioxidant Activity ,Cardiometabolic Disorders ,Biomarkers ,respiratory tract diseases ,Red Blood Celol ,Obstructive Aleep Apneia ,Doenças Genéticas - Abstract
This work was approved by the Ethical Committee of INSA.I.P.-Lisboa, Centro Hospitalar Lisboa-Norte., Faculdade de Ciências Médicas da Universidade Nova de Lisboa and Comissão Nacional de Proteção de Dados, Portugal. DIGE images were obtained in ITQB. Obstructive sleep apnea (OSA) is a sleep¬related breathing disorder characterized by recurrent episodes of apnea/and hypopnea during sleep with resultant intermittent hypoxia and sleep fragmentation, leading to cardiometabolic diseases. OSA affects 3.7% to 26% of adult population, but frequently is underdiagnosed. By 2DIGE-proteomics approach, we have investigated red blood cells (RBC) in OSA to uncover new insights into putative chronic stress-induced RBC dysfunction that lead to inflammation and metabolic syndrome associated with OSA. A number of proteins as potential candidate biomarkers for OSA, such as the cytosolic antioxidant regulators, catalase (CAT) and peroxiredoxin2 (PRX2) was identified, needing additional biochemical research validation. Project - Obstructive sleep apnea and associated metabolic/cardiovascular disorders: understanding mechanisms towards early diagnosis and prognosis prediction. Work partially supported by Harvard Medical School-Portugal Program (HMSP-ICJ/0022/2011), FCT/Poly-Annual Funding Program and FEDER/Saúde XXI Program (Portugal).
- Published
- 2015
29. Male breast cancer: Specific biological characteristics and survival in a Portuguese cohort.
- Author
-
André, Saudade, Pereira, Teresa, Silva, Fernanda, Machado, Patrícia, Vaz, Fátima, Aparício, Mariana, Silva, Giovani L., and Pinto, António E.
- Subjects
BREAST cancer ,FLUORESCENCE in situ hybridization ,PROGESTERONE receptors ,PROTEIN-tyrosine kinases ,ESTROGEN receptors - Abstract
Male breast cancer (BC) represents an individual subtype of BC, with therapeutic procedures based on female BC therapy results. The present study evaluated the parameters currently used for the characterization and therapy of male BC, and their association with disease-free (DFS) and overall survival (OS), aiming to obtain a comprehensive basis to improve the personalized care of male BC. A total of 196 patients from March 1970 to March 2018 (mean follow-up, 84.9 months) were profiled, using clinicopathological review, molecular assessment [BRCA1/2, DNA repair associated (BRCA1/2) status, immunohistochemistry, fluorescence in situ hybridization and DNA flow cytometry] and Cox regression statistical analysis. The median age of patients was 66.5 years. At presentation, 39.2% of patients with invasive carcinomas were in anatomic stage (AS) I. Patients exhibited primarily invasive carcinomas of no special type, histological grade 2, estrogen receptor α-(ERα) and progesterone receptor (PR)-positive, receptor tyrosine kinase erbB-2-negative, high Ki-67, Luminal B-like and aneuploid tumors. A total of 13 of the 44 (29.5%) BRCA-evaluated patients exhibited BRCA2 mutations, significantly associated with family history (FH), bilaterality, high Ki-67 expression, absence of PR and Luminal B-like tumors. Bilaterality was associated with the occurrence of non-breast primary neoplasms (NBPN). The 5 and 10-year DFS rates, excluding patients with distant metastasis, NBPN and in situ carcinomas (n=145) were 65.9 and 58.2%, respectively, and the 5 and 10-year OS rates were 77.5 and 59.2%, respectively. In the univariate analysis, Luminal B-like subtype, BRCA2 mutations, high Ki-67 expression, and AS II and III were significantly associated with shorter DFS and OS. In addition, age >70 years was associated with low OS. In the multivariate analysis, FH, AS II and III, and Luminal B-like subtypes were associated with poorer OS. In conclusion, the data from the present study emphasize the high incidence of BRCA2 mutation in male BC, and its association with FH, bilaterality, high Ki-67 expression, negative PR expression and Luminal B-like subtypes, and with shorter DFS and OS in univariate analysis. [ABSTRACT FROM AUTHOR]
- Published
- 2019
30. Unexpected long-term survival in a BRCA2 patient with metastatic carcinosarcoma associated with tamoxifen
- Author
-
Clara, Ana, Fonseca, Isabel, Francisca, Ana, Bettencourt, António, and Vaz, Fátima
- Published
- 2013
- Full Text
- View/download PDF
31. 2-DIGE of Red Blood Cells from Sickle-Cell Disease Patients with Severe Vaso-Occlusion
- Author
-
Vaz, Fátima, Charro, Nuno, Morais, Anabela, Lavinha, João, and Penque, Deborah
- Subjects
Genómica Funcional e Estrutural ,Genómica Funcional ,Anemia - Published
- 2013
32. The Use of Sentinel Lymph Node Biopsy in BRCA1/2 Mutation Carriers Undergoing Prophylactic Mastectomy: A Retrospective Consecutive Case-Series Study.
- Author
-
Câmara, Sara, Pereira, Daniela, André, Saudade, Mira, Beatriz, Vaz, Fátima, Oom, Rodrigo, Marques, José Carlos, Leal de Faria, João, and Rodrigues dos Santos, Catarina
- Abstract
Introduction. Sentinel lymph node biopsy in prophylactic mastectomy is controversial. It avoids lymphadenectomy in occult carcinoma but is associated with increased morbidity. Women with BRCA mutations have a higher incidence of occult carcinoma and our objective was to assess the clinical utility of sentinel lymph node biopsy when these women undergo prophylactic mastectomy. Materials and Methods. Seven-year retrospective consecutive case-series study of women, with a BRCA deleterious mutation, admitted to prophylactic mastectomy, at our center. Breast MRI < 6 months before surgery was routine, unless contraindicated. Results. Fifty-seven patients (43% BRCA1; 57% BRCA2) underwent 80 prophylactic mastectomies. 72% of patients had had breast cancer treated before prophylactic mastectomy or synchronously to it. The occult carcinoma incidence was 5%, and half of the cases were invasive. SLNB was performed in 19% of the prophylactic mastectomies; none of these had tumor invasion. Women with invasive carcinoma who had not undergone sentinel lymph node biopsy were followed closely with axillary ultrasound. The median follow-up was 37 months, with no local recurrence; 1 patient died of primary tumor systemic relapse. Conclusions. Our data do not support this procedure for routine (in agreement with previous literature), in this high risk for occult carcinoma population. [ABSTRACT FROM AUTHOR]
- Published
- 2018
- Full Text
- View/download PDF
33. Optimizing the discovery of predictors of vaso-occlusion in sickle-cell disease by proteomics
- Author
-
Lavinha, João, Charro, Nuno, Vaz, Fátima, Morais, Anabela, and Penque, Deborah
- Subjects
Genómica Funcional e Estrutural ,congenital, hereditary, and neonatal diseases and abnormalities ,Sickle Cell Disease ,hemic and lymphatic diseases ,Plasma Proteome - Abstract
Painful crises are the major sickle-cell disease (SCD) clinical manifestation probably due to significant increase in dense red blood cells (RBC) and reduction of their ability to pass through capillaries. Using proteomic strategies (see figure below), we aimed to discover novel SCD prognosis biomarkers as early predictors of the transition from steady-state to vaso-occlusive crises thus, allowing a prompt and specific therapeutic intervention.
- Published
- 2012
34. Characterization of the ceramic Glazed tiles of the Palácio Almada (Lisboa)
- Author
-
Flor, Pedro, Carvalho, Ana Paula, Vaz, Fátima, Flor, Susana Varela, and Santos, Teresa
- Subjects
Lisboa ,Gabriel del Barco ,Ceramic glazed tiles - Abstract
This study reports the mineralogical and chemical characterization of the ceramic body of tiles signed by Gabriel del Barco, which belong to the Palácio Almada in Lisbon [1]. Nowadays, the tile panels are not in its original place and their appearance reflect the constant changes that they have been through. Gabriel del Barco was an important tile painter from the 17th century, who began his career as an oil painter, linked to the most relevant Portuguese baroque artists. The influent Almada family was the owner of the former palace near Rossio, one of the most significant and busy squares in 17th century Lisbon. Gabriel del Barco has been currently under investigation by the authors of this presentation through a FCT funded project [2]. In fact, the painter’s characteristics and his large amount of works (both signed and ascribed), make him a unique artist in the Portuguese tile’s panorama. Powder samples carefully removed from the two panels of the palace were analysed by X-ray diffraction (DRX) and energy-dispersive X-ray spectroscopy (EDS). The results revealed that the mineralogical and chemical compositions are almost the same for the two panels. Chloride is present only in one of the panels. A comparison with the present results is made with a recent work, where signed and nonsigned tiles attributed to the artist, was made [3]. We discuss the several factors that may affect the characteristics of old tiles, which may involve differences in the manufacturing process, or environmental factors as the precipitation of water info:eu-repo/semantics/publishedVersion
- Published
- 2012
35. Tobacco Smoke Occupational Exposure: Biomarkers of Biological Damage
- Author
-
Simões, Tânia, Milic, Vukosava D., Pacheco, S.A., Aguiar, Fátima, Gomes, Filomena, Louro, Henriqueta, Vital, Nádia, Antunes, Susana, Charro, Nuno, Bruno, Alexandre, Vaz, Fátima, Lopes, C., Marçal, N., Fragoso, E., Proença, C., Sekera, M., Hagenfeld, Manuela, Silva, Maria João, Almeida, A.B., Penque, Deborah, and Ruivo, P.
- Subjects
Ar e Saúde Ocupacional ,Indoor Air Quality ,Smoking ,Chronic Respiratory Diseases ,Genotoxicidade Ambiental ,Occupational exposure ,Environmental Tobbaco Smoke ,Biomarkers ,DNA Damage - Abstract
Work perfomed by Instituto Nacional Saúde Doutor Ricardo Jorge, Laboratório de Análises de Dopagem, Instituto do Desporto de Portugal, Clínica Universitária Pneumologia, Faculdade Medicina Lisboa, Hospital Santa Maria High concentration of toxic substances emanated from tobacco smoke in entertainment places such as restaurants, bars and nightclubs may compromise indoor air quality (IAQ) generating environments of likelihood health risk. Their employees, particularly those exposed to second-hand smoke, are at increased risk for developing chronic respiratory diseases such as chronic obstructive pulmonary disease (COPD), asthma and lung cancer. Objectives In this work, we aimed at evaluating relationships between occupational ETS exposure, biological damage (DNA or proteome alterations) and putative respiratory dysfunctions. Materials and Methods A group of restaurants located in Lisbon has been studied, in which fine particles (smaller than 2.5µm; PM2.5), indicative of environmental tobacco smoke (ETS) contamination, were measured. After informed consent, workers were evaluated for acute exposure to ETS based on cotinine levels in urine and clinically evaluated for their respiratory health by spirometry measurements and chestpiece auscultation. Effects of ETS exposure on genotoxic lesions were evaluated by measuring DNA/chromosomes breaks in peripheral blood lymphocytes and buccal mucosa cells. Effects of ETS exposure on plasma proteins is being studied using a 2D-DIGE-MALDI-TOF/TOF approach. To achieve that goal, global proteome characterization is being carried based on the same individual plasma samples collected for genotoxic studies and were pooled according to previous criteria. Results Results have confirmed higher respirable particle levels in smoking-designated areas of those entertainment places, indicating an ETS contamination. Leukocytes from ETS-exposed-workers presented lower levels of genotoxic-induced damage in comparison with non-exposed workers, suggesting an ETS-induced stress adaption response in exposed-workers. By proteomics, we are now to investigating those workers for putative alterations on their plasma proteome to provide additional insights on the adaptative response mechanisms that might be activated by ETS exposition. Conclusion Altogether, this study provides information on indoor air quality of Lisbon smoking entertainment places, in particular ETS contamination, and may provide biomarker candidates for occupational ETS-exposure which might precede respiratory diseases on their employees. Work supported by Fundação Calouste Gulbenkian, Administração Central do Sistema de Saúde, FCT/PolyAnnual Funding Program and FEDER/SaudeXXI Program, Portugal. VDM, SP,NC,BA and TS, are recipients of FCT fellowships.
- Published
- 2011
36. Chemical and mineralogical characterization of ancient Portuguese ceramic tiles of the first quarter of the XVIIIth century
- Author
-
Flor, Pedro, Carvalho, Ana Paula, Vaz, Fátima, Flor, Susana Varela, Esteves, Lurdes, and Carvalho, Rosário Salema de
- Subjects
Arqueometria ,Dispersive X-ray spectrometer ,Azulejo ,Scanning electron microscopy-energy ,Historical tiles ,X-ray diffraction - Abstract
Seminário Internacional de Conservação de Azulejos – Conservation of Glazed Ceramic Tiles – organizado pelo LNEC e realizado em Lisboa de 15-16 de abril de 2009. The main objective of the present work is to establish a correlation between the characteristics of the ceramic body of ancient tiles and the workshop where they were made. The work was carried out with tiles from the Museu Nacional do Azulejo collection, but the aim is to study the most important period of the history of tiles in Portugal, the first quarter of the 18th century, the so called Ciclo dos Mestres (Master’s Cycle). In the present work, we make use of SEM-EDS and DRX to determine the major constituents of the ceramic body, as well as to evaluate the procedure used to produce the tiles. Signed and unsigned tiles were used. The analysis of the chemical composition, mineralogical phases, shape and size of particles combined with historical information allowed to conclude that the tiles of the panel Vista de Lisboa (MNAz inv. 1) and Senhora dos Corações have identical global chemical composition but not the same mineralogical characteristics. Two other tiles featuring King Charles II (MNAz inv. 691) and his wife Queen Catherine of Braganza (MNAz inv. 690), present different properties, which indicate another provenience of the clay materials and, probably, another workshop and painter. info:eu-repo/semantics/publishedVersion
- Published
- 2009
37. Proteomics in the Assessment of the Therapeutic Response of Antineoplastic Drugs: Strategies and Practical Applications.
- Author
-
Torres, Vukosava Milic, Popovic, Lazar, Vaz, Fátima, and Penque, Deborah
- Published
- 2016
- Full Text
- View/download PDF
38. Evening and morning alterations in Obstructive Sleep Apnea red blood cell proteome
- Author
-
Feliciano, Amélia, Vaz, Fátima, Valentim-Coelho, Cristina, Torres, Vukosava M., Silva, Rita, Prosinecki, Vesna, Alexandre, Bruno M., Almeida, Andreia, Almeida-Marques, Catarina, Carvalho, Ana S., Matthiesen, Rune, Malhotra, Atul, Pinto, Paula, Bárbara, Cristina, and Penque, Deborah
- Published
- 2017
- Full Text
- View/download PDF
39. Evening and morning peroxiredoxin-2 redox/oligomeric state changes in obstructive sleep apnea red blood cells: Correlation with polysomnographic and metabolic parameters.
- Author
-
Feliciano, Amélia, Vaz, Fátima, Torres, Vukosava M, Valentim-Coelho, Cristina, Silva, Rita, Prosinecki, Vesna, Alexandre, Bruno M, Carvalho, Ana S, Matthiesen, Rune, Malhotra, Atul, Pinto, Paula, Bárbara, Cristina, and Penque, Deborah
- Subjects
- *
SLEEP apnea syndromes , *METABOLIC disorders , *POLYSOMNOGRAPHY , *PEROXIREDOXINS , *ERYTHROCYTES , *MOLECULAR chaperones , *DIAGNOSIS - Abstract
We have examined the effects of Obstructive Sleep Apnea (OSA) on red blood cell (RBC) proteome variation at evening/morning day time to uncover new insights into OSA-induced RBC dysfunction that may lead to OSA manifestations. Dysregulated proteins mainly fall in the group of catalytic enzymes, stress response and redox regulators such as peroxiredoxin 2 (PRDX2). Validation assays confirmed that at morning the monomeric/dimeric forms of PRDX2 were more overoxidized in OSA RBC compared to evening samples. Six month of positive airway pressure (PAP) treatment decreased this overoxidation and generated multimeric overoxidized forms associated with chaperone/transduction signaling activity of PRDX2. Morning levels of overoxidized PRDX2 correlated with polysomnographic (PSG)-arousal index and metabolic parameters whereas the evening level of disulfide-linked dimer (associated with peroxidase activity of PRDX2) correlated with PSG parameters. After treatment, morning overoxidized multimer of PRDX2 negatively correlated with fasting glucose and dopamine levels. Overall, these data point toward severe oxidative stress and altered antioxidant homeostasis in OSA RBC occurring mainly at morning time but with consequences till evening. The beneficial effect of PAP involves modulation of the redox/oligomeric state of PRDX2, whose mechanism and associated chaperone/transduction signaling functions deserves further investigation. RBC PRDX2 is a promising candidate biomarker for OSA severity and treatment monitoring, warranting further investigation and validation. [ABSTRACT FROM AUTHOR]
- Published
- 2017
- Full Text
- View/download PDF
40. Meningeal Carcinomatosis and Uterine Carcinoma.
- Author
-
Asensio, Nuria, Luis, Ana, Costa, Ilda, Oliveira, João, and Vaz, Fátima
- Abstract
Leptomeningeal carcinomatosis is a rare metastatic event in gynecological neoplasias, and most cases occur in ovarian cancer. It is extremely infrequent in cervical cancer, and so far, there are not any reports of this complication in association with endometrial cancer.We report a case of leptomeningeal carcinomatosis secondary to endometrial carcinoma and 2 complex cervix cancer cases. A MEDLINE search was done to review all published cases of this complication in gynecological cancer to identify predictive factors for this diagnosis.Leptomeningeal carcinomatosis is usually diagnosed late in the course of the disease, and most reports concern ovarian cancer patients. The number of cases describing this neurologic complication in cervix cancer is increasing. Gadolinium-enhanced magnetic resonance imaging may be necessary for this diagnosis, because cerebrospinal fluid analysis results may be negative. Most cervix cases had squamous cell (8/14) or neuroendocrine histologic subtype (3/14), and when reported, differentiation was usually poor. The case we report of endometrial carcinoma, unique in the literature, is a serous adenocarcinoma.A high index of suspicion is necessary, and leptomeningeal carcinomatosis should be considered in patients with unexplained neurologic symptoms whose gynecologic tumors are poorly undifferentiated or have a serous component. [ABSTRACT FROM AUTHOR]
- Published
- 2009
- Full Text
- View/download PDF
41. Minimal perimeter for N identical bubbles in two dimensions: calculations and simulations.
- Author
-
Cox, S. J., Graner, F., Vaz, FÁtima, Monnereau-Pittet, C., and Pittet, N.
- Subjects
VARIATIONAL principles ,BUBBLES ,MICROCLUSTERS - Abstract
Examines the minimal perimeter enclosing a cluster of N planar bubbles of identical areas in two dimensions. Topological classification of defect-free configurations; Clusters extracted from a honeycomb lattice; Conditions required for minimal configuration.
- Published
- 2003
- Full Text
- View/download PDF
42. Redox–Oligomeric State of Peroxiredoxin-2 and Glyceraldehyde-3-Phosphate Dehydrogenase in Obstructive Sleep Apnea Red Blood Cells under Positive Airway Pressure Therapy.
- Author
-
Valentim-Coelho, Cristina, Vaz, Fátima, Antunes, Marília, Neves, Sofia, Martins, Inês L., Osório, Hugo, Feliciano, Amélia, Pinto, Paula, Bárbara, Cristina, and Penque, Deborah
- Subjects
SLEEP apnea syndromes ,ERYTHROCYTES ,BODY mass index ,CYSTEINE ,SULFONIC acids ,CELL death ,PROTEOMICS - Abstract
In this study, we examined the effect of six months of positive airway pressure (PAP) therapy on Obstructive Sleep Apnea (OSA) red blood cell (RBC) proteome by two dimensional difference gel electrophoresis (2D-DIGE) - based proteomics followed by Western blotting (WB) validation. The discovered dysregulated proteins/proteoforms are associated with cell death, H
2 O2 catabolic/metabolic process, stress response, and protein oligomerization. Validation by nonreducing WB was performed for peroxiredoxin-2 (PRDX2) and glyceraldehyde-3-phosphate dehydrogenase (GAPDH) by using antibodies against the sulfinylated/sulfonylated cysteine of these proteins to better evaluate their redox–oligomeric states under OSA and/or in response to PAP therapy. The results indicated that the redox–oligomeric state of GAPDH and PRDX2 involving overoxidation by sulfinic/sulfonic acids were differentially modulated in OSA RBC, which might be compromising RBC homeostasis. PAP therapy by restoring this modulation induced a higher oligomerization of overoxidized GAPDH and PRDX2 in some patients that could be associated with eryptosis and the chaperone "gain" of function, respectively. This varied response following PAP may result from the complex interplay between OSA and OSA metabolic comorbidity. Hence, information on the redox status of PRDX2 and GAPDH in RBC will help to better recognize OSA subtypes and predict the therapeutic response in these patients. GAPDH monomer combined with body mass index (BMI) and PRDX2 S-S dimer combined with homeostatic model assessment for insulin resistance (HOMA-IR) showed to be very promising biomarkers to predict OSA and OSA severity, respectively. [ABSTRACT FROM AUTHOR]- Published
- 2020
- Full Text
- View/download PDF
43. 235 Nasopharyngeal cancer chemotherapy – before or after curative chemoradiation?
- Author
-
Magno, Sara, Freitas, Rita, Dunões, Inês, Vicente, Inês, Machado, Madalena, Pereira, Margarida, Vaz, Fátima, and Sargento, Isabel
- Subjects
- *
CANCER chemotherapy , *NASOPHARYNX cancer , *TERMINATION of treatment , *CHEMORADIOTHERAPY , *HEALTH facilities - Abstract
Nasopharyngeal carcinomas (NPC) are endemic in southeast Asia and rare in Europe with an incidence of 0.07/100.000 persons. Five-year survival is about 50%. Diagnosis is provided by histological findings and staging classification is done according to AJCC. EBV DNA serum levels should be determined before and after local treatment, carry prognostic significance and can be used in the active surveillance of cancer survivors. The best method for serum determination of EBV DNA is still under discussion. Advanced locoregional disease carries a greater risk of distant spread, highlighting the need of treatment intensification in higher risk patients. The best treatment plan is still under discussion: concurrent chemoradiation followed by adjuvant chemotherapy (ACT) or induction chemotherapy (ICT) followed by chemoradiation. ACT/ICT regimens should consist of two-/three-drug regimens, including a platinum agent and the best drug regimen is still under investigation. ACT carries great toxicity (50% require dose reductions, 60% complete treatment) and has a relatively low PFS and OS benefit. ICT is better tolerated, but may compromise cisplatin cumulative dose in concomitant chemoradiation and delay radiation start, possibly compromising the effectiveness of local treatment. Nonetheless, ICT improves PFS and OS when compared to chemoradiation alone, mostly because of better metastasis free survival (MFS), making this a promising strategy in properly selected high risk patients. Most NPC trials were conducted in countries where NPC is endemic, primarily non-queratinizing and EBV-related. Data in non-endemic countries are lacking. Our study aims to compare ACT and ICT in locally advanced and oligometastatic NPC patients treated in a European reference centre. Retrospective, observational study of patients with NPC diagnosis between January 2017 and September 2023 and disease stage III-IVb. Data were collected from patient records and included patient characteristics (gender, age, smoking history, ECOG performance status), tumor characteristics (T, N, staging, histology, EBV-status) and treatment characteristics (ACT, ICT, toxicities). PFS and OS were analyzed. Toxicity grading is according to CTCAE 5.0 and statistical analysis is descriptive. A total of 69 patients were included. Most patients were male (56.5%, n=39) with a median age of 53.0 years (18-75). Most patients had a good performance status (0 or 1 in 98.5%, n=68). Stage IVa was the most frequent initial staging (50.7%, n=35), with a majority of patients having T4 (33.3%, n=23) and N3 (39.1%, n=27) tumours. All tumours were undifferentiated queratinizing carcinomas and 86.9% (n=60) were EBV-positive. EBV DNA was rarely determined. [Display omitted] Until 2019 the most frequent treatment strategy was ACT with cisplatin-5FU (57.9%, n=40), after which ICT became more frequently used (15.9%, n=11), mostly with cisplatin-gemcitabin (45.4%, n=5). ICT had less acute toxicities that lead to treatment discontinuation (0.9% (n=1) versus 39.7% (n=23)). All patients completed radiotherapy after ICT, but in 4 patients optimal concomitant cisplatin dose (≥200mg/m2) was compromised. Both ICT and ACT showed good response rates, with a complete response in 63.6% versus 79.3%, respectively. Median follow up was 45 months in the ACT group (4-125) and 27 months (1-55) in the ICT group. PFS with ACT was 45.0 months (95%CI 34.8-55.2) and OS was 46.0 months (95%CI 38.5-53.4). The ICT group is small and has a short follow-up time; PFS and OS data will be determined in the future. [Display omitted] The best course of treatment of advanced NPC is still unclear - which patients and histologies benefit most from treatment intensification? What is the role of EBV DNA and what is the best method for its determination? Should ACT or ICT be preferred? Which chemotherapy regimen is better? Treatment center expertise and the ability to provide timely treatment may also play a role in treatment decisions. Our study presents the experience of a European reference centre where ACT was the preferred treatment for a longer period of time and therefore has a significantly larger patient population with longer follow-up time. ACT seems to provide good patient outcomes, despite a worse toxicity profile and more related treatment discontinuations, but group comparison is not yet possible since our centre only recently changed strategies in managing advanced NPC patients, preferring ICT over ACT. ICT patients are still underrepresented in this analysis, with fewer patients and shorter follow-up time. Moreover, the ICT patient group has more advanced disease, including IVb oligometastatic disease (that was not included in the intensification ACT and ICT studies), making head-to-head comparisons difficult. The management of advanced NPC is a clinical challenge and more data are needed to better select both patients and treatment strategies for treatment intensification, while taking into consideration the differences between endemic and non-endemic NPC. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
44. Men seeking counselling in a Breast Cancer Risk Evaluation Clinic.
- Author
-
Freitas, Ana Catarina, Opinião, Ana, Fragoso, Sofia, Nunes, Hugo, Santos, Madalena, Clara, Ana, Bento, Sandra, Luis, Ana, Silva, Jorge, Moura, Cecília, Filipe, Bruno, Machado, Patrícia, Santos, Sidónia, André, Saudade, Rodrigues, Paula, Parreira, Joana, and Vaz, Fátima
- Subjects
- *
HEREDITARY cancer syndromes , *GERM cells , *GENETIC counseling - Abstract
Background: Hereditary breast and ovary cancer syndrome affects both genders but little is known about the uptake of genetic services by men. The objective of this study is to characterise the male population counselled through a multidisciplinary breast/ovarian program. Methods: Descriptive analysis of male patients counselled from January 2000 to December 2015. Data in this analysis include new cancer diagnoses during prospective follow up. Results: From 4,320 families registered, 362 male patients were identified: 236 (65.2%) from hereditary cancer families (HCF) and 126 (34.8%) from non-HCF. In HCF, 121 patients (51.3%) were mutation carriers (MC): BRCA2 - 102 (84.3%), BRCA1 - 16 (13.2%), CHEK2 - 1 (0.8%) and TP53 - 2 (1.7%). Non-HCF included 126 patients: 85 (67.5%) belonged to families without pathogenic mutations or with variants of unknown clinical significance; 22 (17.5%) refused testing after counselling and 19 (15.0%) did not meet criteria for testing. Both HCF and non-HCF included patients with previous cancer diagnoses: HCF- Breast Cancer (BC) - 18; prostate cancer (PC) - 13; melanoma - 1; others - 7) and non-HCF (BC - 77; PC - 20; gastric cancer (GC) - 1; melanoma - 8; bladder cancer - 1; others - 22). From the 121 MC identified (including the TP53 and CHEK2 carriers), 97 patients (80.2%) adhered to prospective surveillance. With a median follow-up of 36.9 months, 17 cancers were diagnosed in 14 patients, PC being the most frequently diagnosed neoplasia (5 cases). Eleven patients (78.6%) are alive and three patients died of advanced cancer (2 with GC, 1 with disseminated adenocarcinoma). Conclusion: We observed a high adherence to counselling, genetic testing and active surveillance by men belonging to hereditary BC families. Male carriers of pathogenic DNA variants are at risk for several cancers and should be included in prospective follow-up studies. [ABSTRACT FROM AUTHOR]
- Published
- 2018
- Full Text
- View/download PDF
45. Characterization of the supramolecular structure of Bacillus subtilis aerobic respiratory chain
- Author
-
Silva, Sara T.N., Sousa, Pedro M.F., Vaz, Fátima, Gomes-Alves, Patrícia, Penque, Deborah, and Melo, Ana M.P.
- Published
- 2010
- Full Text
- View/download PDF
46. Supramolecular organizations in the aerobic respiratory chain of Escherichia coli
- Author
-
Sousa, Pedro M.F., Silva, Sara T.N., Hood, Brian L., Charro, Nuno, Carita, João N., Vaz, Fátima, Penque, Deborah, Conrads, Thomas P., and Melo, Ana M.P.
- Subjects
- *
ESCHERICHIA coli , *MICROBIAL respiration , *BIOENERGETICS , *OXIDOREDUCTASES , *MASS spectrometry , *PHENAZINE , *ETHYLENEDIAMINETETRAACETIC acid , *SULFONIC acids , *LIQUID chromatography , *DEHYDROGENASES - Abstract
Abstract: The organization of respiratory chain complexes in supercomplexes has been shown in the mitochondria of several eukaryotes and in the cell membranes of some bacteria. These supercomplexes are suggested to be important for oxidative phosphorylation efficiency and to prevent the formation of reactive oxygen species. Here we describe, for the first time, the identification of supramolecular organizations in the aerobic respiratory chain of Escherichia coli, including a trimer of succinate dehydrogenase. Furthermore, two heterooligomerizations have been shown: one resulting from the association of the NADH:quinone oxidoreductases NDH-1 and NDH-2, and another composed by the cytochrome bo 3 quinol:oxygen reductase, cytochrome bd quinol:oxygen reductase and formate dehydrogenase (fdo). These results are supported by blue native-electrophoresis, mass spectrometry and kinetic data of wild type and mutant E . coli strains. [Copyright &y& Elsevier]
- Published
- 2011
- Full Text
- View/download PDF
47. Complete Response With Trametinib in Advanced Low-Grade Serous Ovarian Carcinoma: A Case Report.
- Author
-
Antunes Meireles P, Mira B, and Vaz F
- Abstract
Low-grade serous ovarian carcinoma (LGSOC) is an uncommon subtype of ovarian cancer, and it is usually associated with reduced sensitivity to chemotherapy and worse outcomes. We present a case involving a 45-year-old female patient diagnosed with stage III-C low-grade serous ovarian carcinoma (LGSOC) in 2013. She achieved a complete response for 29 months after undergoing platinum-based chemotherapy and interval cytoreduction. However, in 2016, both local and distant relapses were observed. As there was no benefit from hormonal therapy and the patient refused chemotherapy, bevacizumab was initiated, resulting in disease stabilization for 30 months. At disease progression, trametinib was proposed, and the patient experienced an ongoing sustained complete response for over 36 months. To the best of our knowledge, this is the first report, outside of a clinical trial, regarding a complete response with single agent MEK inhibitor therapy in a patient with recurrent LGSOC, with unknown BRAF V600E mutation. We present the following case in accordance with the CAse REports (CARE) checklist., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, Antunes Meireles et al.)
- Published
- 2024
- Full Text
- View/download PDF
48. Hereditary breast cancer and ancestry in the Madeira archipelago: an exploratory study.
- Author
-
Miguel I, Rodrigues F, Fragoso S, Freixo J, Clara A, Luís A, Bento S, Fernandes M, Bacelar F, Câmara S, Parreira J, Duarte T, Rodrigues P, Santos S, and Vaz F
- Abstract
Access to genetic testing and counselling in remote areas such as the Madeira archipelago, in the Northern Atlantic Ocean, may be complex. Different counselling methods, including telegenetics, should be explored. In this study, we characterise the Hereditary Breast/Ovarian Cancer (HBOC) families with Madeira ancestry enrolled in our programme. Of a total of 3,566 index patients tested between January 2000 and June 2018, 68 had Madeira ancestry and 22 were diagnosed with a pathogenic germline variant (PV). As in the whole group, BRCA2 PV were more frequent in Madeira patients (68.4%: c.9382C>T (26.3%), c.658_659del (21%), c.156_157insAlu (10.5%), c.793+1G>A (5.3%) and c.298A>T (5.3%). However, the most frequently diagnosed PV in Madeira patients was the BRCA1 c.3331_3334del (31.6%). BRCA1/2 detection rates were 27.9% and 10.5% for Madeira and the whole group, respectively. This study is the first characterisation of HBOC patients with Madeira ancestry. A distinct pattern of BRCA1/2 variants was observed, and the geographic clustering of BRCA1 c.3331_3334del variant may support the possibility of a founder mutation previously described in Northern Portugal. The high detection rate observed reinforces the need to reduce gaps in access to genetic testing in Madeira and other remote areas. According to current guidelines, timely identification of HBOC patients can contribute to their ongoing care and treatment., Competing Interests: The authors declare that they have no conflict of interest., (© the authors; licensee ecancermedicalscience.)
- Published
- 2021
- Full Text
- View/download PDF
49. Environmental Tobacco Smoke in Occupational Settings: Effect and Susceptibility Biomarkers in Workers From Lisbon Restaurants and Bars.
- Author
-
Vital N, Antunes S, Louro H, Vaz F, Simões T, Penque D, and Silva MJ
- Subjects
- Biomarkers, Humans, Mouth Mucosa chemistry, Portugal epidemiology, Restaurants, Tobacco Smoke Pollution adverse effects
- Abstract
Environmental tobacco smoke (ETS) has been recognized as a major health hazard by environmental and public health authorities worldwide. In Portugal, smoke-free laws are in force for some years, banning smoking in most indoor public spaces. However, in hospitality venues such as restaurants and bars, owners can still choose between a total smoke-free policy or a partial smoking restriction with designated smoking areas, if adequate reinforced ventilation systems are implemented. Despite that, a previous study showed that workers remained continuously exposed to higher ETS pollution in Lisbon restaurants and bars where smoking was still allowed, comparatively to total smoke-free venues. This was assessed by measurements of indoor PM
2.5 and urinary cotinine, a biomarkers of tobacco smoke exposure, demonstrating that partial smoking restrictions do not effectively protect workers from ETS. The aim of the present work was to characterize effect and susceptibility biomarkers in non-smokers from those hospitality venues occupationally exposed to ETS comparatively to non-exposed ones. A group of smokers was also included for comparison. The sister chromatid exchange (SCE), micronucleus (MN) and comet assays in whole peripheral blood lymphocytes (PBLs) and the micronucleus assay in exfoliated buccal cells, were used as biomarkers of genotoxicity. Furthermore, a comet assay after ex vivo challenge of leukocytes with an alkylating agent, ethyl methanesulfonate (EMS), was used to analyze the repair capacity of those cells. Genetic polymorphisms in genes associated with metabolism and DNA repair were also included. The results showed no clear association between occupational exposure to ETS and the induction of genotoxicity. Interestingly, the leukocytes from non-smoking ETS-exposed individuals displayed lower DNA damage levels in response to the ex vivo EMS challenge, in comparison to those from non-exposed workers, suggesting a possible adaptive response. The contribution of individual susceptibility to the effect biomarkers studied was unclear, deserving further investigation., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Vital, Antunes, Louro, Vaz, Simões, Penque and Silva.)- Published
- 2021
- Full Text
- View/download PDF
50. ATM germline variants and male breast cancer.
- Author
-
Cunha R, Nejo P, Bento S, and Vaz F
- Subjects
- Breast Neoplasms, Male genetics, Humans, Male, Middle Aged, Ataxia Telangiectasia Mutated Proteins genetics, Biomarkers, Tumor genetics, Breast Neoplasms, Male diagnosis, Carcinoma, Ductal, Breast diagnosis, Carcinoma, Ductal, Breast genetics, Germ-Line Mutation
- Abstract
Male breast cancer is rare and has been frequently associated with cancer predisposing variants, particularly in BRCA 1 and BRCA 2 genes. ATM pathogenic variants may also increase risk for breast and other cancers. However, less than 10 cases relating ATM mutations and male breast cancer have been previously reported. Therefore, risk estimates and surveillance recommendations are not well established. We report a case of a male patient with breast cancer found to be heterozygous for a pathogenic ATM variant after multigene testing. We also review the literature regarding increased cancer risk associated with ATM germline variants, with emphasis on potential recommendations for surveillance and follow-up., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2021
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.