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1.
Eur J Med Genet ; 68: 104913, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38286305

RESUMO

BACKGROUND: Familial Adenomatous Polyposis (FAP) is a colorectal cancer (CRC) predisposition syndrome caused by germline APC mutations and characterised by an increased risk of CRC and colonic polyps and, in certain forms, of specific prominent extraintestinal manifestations, namely osteomas, soft tissue tumours and dental anomalies. Pachydysostosis of the fibula is a rare clinical entity defined by unilateral bowing of the distal portion of the fibula and elongation of the entire bone, without affectation of the tibia. CLINICAL REPORT: We report a 17-year-old male, who presented with a non-progressive bowing of the right leg detected at 18 months of age caused by a fibula malformation (later characterized as pachydysostosis) and a large exophytic osteoma of the left radius, noticed at the age of 15 years, without gastrointestinal symptoms. There was no relevant family history. Detailed characterisation revealed multiple osteomas, skin lesions and dental abnormalities, raising the hypothesis of FAP. This diagnosis was confirmed by genetic testing [c.4406_4409dup p.(Ala1471Serfs*17) de novo mutation in the APC gene] and endoscopic investigation (multiple adenomas throughout the colon, ileum and stomach). DISCUSSION: This case report draws attention to the phenotypic spectrum of skeletal manifestations of FAP: this patient has a congenital fibula malformation, not previously associated with this syndrome, but which is likely to have been its first manifestation in this patient. This clinical case also illustrates the challenges in the early diagnosis of FAP, especially without family history, and highlights the importance of a multidisciplinary approach and the adequate study of rare skeletal abnormalities.


Assuntos
Polipose Adenomatosa do Colo , Osteoma , Masculino , Humanos , Adolescente , Proteína da Polipose Adenomatosa do Colo/genética , Fíbula/diagnóstico por imagem , Fíbula/patologia , Polipose Adenomatosa do Colo/genética , Polipose Adenomatosa do Colo/diagnóstico , Genes APC , Mutação em Linhagem Germinativa , Osteoma/genética
2.
Am J Med Genet A ; 191(7): 1963-1967, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37134188

RESUMO

Neurofibromatosis type 1 (NF-1) is a multisystem genetic disorder affecting the NF1 tumor suppressor gene. Patients typically develop superficial (cutaneous) and internal (plexiform) neurofibromas. The latter may rarely involve the liver locating in the hilum and encasing the portal vessels, leading to portal hypertension. Vascular abnormalities (NF-I vasculopathy) are a well-recognized manifestation of NF-1. Although the pathogenesis is not well-known, NF-1 vasculopathy involves arteries of both peripheral and cerebral territories, with venous thrombosis being exceptionally reported. Portal venous thrombosis (PVT) is the leading cause of portal hypertension in childhood and has been associated with several risk factors. Nevertheless, predisposing conditions remain unknown in more than 50% of the cases. The treatment options are limited, and its management is nonconsensual in the pediatric age. We report the case of a 9-year-old boy with clinically and genetically confirmed NF-1, diagnosed with portal venous cavernoma after an episode of gastrointestinal bleeding. There were no identifiable risk factors for PVT and intrahepatic peri-hilar plexiform neurofibroma was excluded by MRI imaging. To the best of our knowledge, this is the first report of PVT in NF-1. We speculate that NF-1 vasculopathy may have been a pathogenic factor, or instead, it was a fortuitous association.


Assuntos
Hipertensão Portal , Neurofibromatose 1 , Doenças Vasculares , Trombose Venosa , Masculino , Humanos , Criança , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Hipertensão Portal/complicações , Veia Porta , Trombose Venosa/genética , Trombose Venosa/complicações , Doenças Vasculares/patologia
3.
PLoS One ; 18(2): e0279344, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36787313

RESUMO

BACKGROUND: Psychosocial stress and depressive disorder have been associated with cancer as putative contributors to worse prognosis. On the other hand, cancer diagnosis is a recognised life event that can contribute to distress and depressive states. Humoral and cellular inflammation can promote depressive disorder by means of decreased monoamine synthesis, glutamate neurotoxicity, neurogenesis and neuroplasticity, dysregulated hypothalamic-pituitary-adrenal axis, and glucocorticoid resistance. This protocol objectives are to observe the interactions between psychosocial variables and biochemical and immunological biomarkers in a longitudinal, prospective design; to identify inflammation-related depression endophenotypes in breast cancer patients and to understand if early diagnosed and treated depression in this population will translate in better inflammation status and better global prognosis. METHODS: Prospective observational cohort, composed by 100 consecutive premenopausal patients, diagnosed with non-distant metastatic breast carcinoma and with no history of major psychopathology or other organic illness. The participants will have an in-person assessment in three different moments, along illness treatment and follow-up, with respect to cytometric, immunologic, and psychosocial parameters and will be tested for depression vulnerability and resilience inflammation-related functional genetic polymorphisms. Additionally, at years 5 and 10 post enrollment, patients`medical records will be assessed. As a control cohort, all patients excluded due to psychiatric history or past psychiatric treatments will have their clinical records assessed at years 5 and 10 after admission. All the data will be managed with the SPSS® software. DISCUSSION AND CONCLUSION: This study is an original longitudinal cohort of breast cancer premenopausal patients, with a comprehensive approach to psychosocial, clinical, inflammatory, and genetic variables. It expects to provide evidence regarding the links between genetic, cytometric, immunologic, and psychosocial factors, their potential contribution to the pathophysiology of depressive disorder, breast cancer course, progression, and prognosis. It may further contribute with data to better efficacy of the psycho-oncological interventions. TRIAL REGISTRATION: National Commission of Data Protection (CNPD) 13413/2017; Ethics Committee of IPOP project code CI-IPOP81/2017.


Assuntos
Neoplasias da Mama , Depressão , Feminino , Humanos , Neoplasias da Mama/psicologia , Depressão/genética , Sistema Hipotálamo-Hipofisário , Inflamação/genética , Inflamação/complicações , Estudos Longitudinais , Estudos Observacionais como Assunto , Sistema Hipófise-Suprarrenal , Resiliência Psicológica
4.
Rev. bras. enferm ; 76(supl.4): e20210975, 2023. graf
Artigo em Inglês | LILACS-Express | LILACS, BDENF - Enfermagem | ID: biblio-1431558

RESUMO

ABSTRACT Objective: to elaborate and validate the content of a digital guide educational technology on Systematization of Nursing Care and Nursing Process. Methods: applied research of technological development, developed between 2020 and 2021, in three steps. First, a scoping review was carried out to elaborate the content. In the second step, the content was validated with 46 nurse judges selected for convenience. The minimum criterion of agreement among judges was 80%. The third step consisted of content organization and layout. Results: the guide content was elaborated from the Federal Nursing Council legislation, scientific articles and textbooks. Content was considered appropriate, relevant and organized by judges. Final considerations: the digital guide is an alternative that can contribute to the NP execution and implementation, supporting the planning and implementation of actions for quality of care.


RESUMEN Objetivo: desarrollar y validar el contenido de una tecnología educativa como guía digital sobre Sistematización de la Atención de Enfermería y del Proceso de Enfermería. Métodos: investigación aplicada de desarrollo tecnológico, desarrollada entre 2020 y 2021, en tres etapas. En primer lugar, se realizó una revisión de alcance para elaborar el contenido. En la segunda etapa, se validó el contenido con 46 jueces de enfermería seleccionados por conveniencia. El criterio mínimo de acuerdo entre los jueces fue del 80%. La tercera etapa consistió en la organización y maquetación del contenido. Resultados: el contenido de la guía fue elaborado a partir de la legislación del Consejo Federal de Enfermería, artículos científicos y libros de texto. El contenido fue considerado adecuado, pertinente y organizado por los jueces. Consideraciones finales: la guía digital es una alternativa que puede contribuir a la ejecución e implementación del PE, apoyando la planificación e implementación de acciones para la calidad de la atención.


RESUMO Objetivo: elaborar e validar o conteúdo de uma tecnologia educacional do tipo guia digital sobre Sistematização da Assistência de Enfermagem e Processo de Enfermagem. Métodos: pesquisa aplicada de desenvolvimento tecnológico, desenvolvida entre 2020 e 2021, em três etapas. Primeiramente, foi realizada uma revisão de escopo, para elaboração do conteúdo. Na segunda etapa, foi validado o conteúdo com 46 juízes enfermeiros selecionados por conveniência. O critério mínimo de concordância entre os juízes foi de 80%. A terceira etapa consistiu na organização e diagramação do conteúdo. Resultados: o conteúdo do guia foi elaborado a partir das legislações do Conselho Federal de Enfermagem, artigos científicos e livros textos. O conteúdo foi considerado adequado, pertinente e organizado pelos juízes. Considerações finais: o guia digital é uma alternativa que pode contribuir para a execução e implementação do PE, embasando o planejamento e a implementação de ações para a qualidade da assistência.

5.
BMJ Paediatr Open ; 6(1)2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-36053631

RESUMO

OBJECTIVE: To analyse the association of faecal calprotectin with the genetic and clinical characteristics of paediatric patients with cystic fibrosis (PwCF). In a subset of these patients, we aimed to associate histological inflammatory features of rectal mucosa to faecal calprotectin levels. METHODS: In a prospective study, faecal calprotectin levels were collected in all 23 PwCF attending our paediatric centre, together with demographic and clinical data. Associations between faecal calprotectin and clinical features were determined. In 11 of these patients, endoscopic rectal biopsies were obtained and the association between faecal calprotectin and histological inflammatory markers was analysed. Statistical analyses included Spearman's correlation coefficient, Mann-Whitney U test and Fisher's exact test. Sensitivity and specificity was calculated. RESULTS: Median age of PwCF was 12 years, 19 had pancreatic insufficiency (PI) (19/23). Seventeen (17/23) had elevated faecal calprotectin, and the median value was 88 µg/g (IQR=178 µg/g). Higher faecal calprotectin levels were observed in the PI group (101 vs 30 µg/g, p=0.027). No significant correlation between elevated faecal calprotectin level and body mass index z-score was found. Five patients (22%) reported abdominal pain, three (13%) complained of diarrhoea and three (13%) had constipation, but these symptoms were not associated with elevated faecal calprotectin.Unspecific focal rectal inflammation was found in four patients (4/11). An association between rectal mucosa inflammation and elevated faecal calprotectin was found (p=0.015). Sensitivity was 100% and specificity was 86%. CONCLUSIONS: In our PwCF, elevated faecal calprotectin was frequent, particularly if PI, and it was not related to gastrointestinal symptoms or malnutrition. Elevated faecal calprotectin was present in patients with histological evidence of rectal inflammation. Faecal calprotectin may be an indicator of asymptomatic rectal inflammation in PwCF.


Assuntos
Fibrose Cística , Complexo Antígeno L1 Leucocitário , Criança , Fibrose Cística/diagnóstico , Fezes/química , Humanos , Inflamação , Complexo Antígeno L1 Leucocitário/análise , Estudos Prospectivos
6.
Mol Ecol ; 31(18): 4797-4817, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35869812

RESUMO

Geologically recent radiations can shed light on speciation processes, but incomplete lineage sorting and introgressive gene flow render accurate evolutionary reconstruction and interpretation challenging. Independently evolving metapopulations of low dispersal taxa may provide an additional level of phylogeographic information, given sufficiently broad sampling and genome-wide sequencing. Evolution in the marine brown algal genus Fucus in the south-eastern North Atlantic was shaped by Quaternary climate-driven range shifts. Over this timescale, divergence and speciation occurred against a background of expansion-contraction cycles from multiple refugia, together with mating-system shifts from outcrossing (dioecy) to selfing hermaphroditism. We tested the hypothesis that peripheral isolation of range edge (dioecious) F. vesiculosus led to parapatric speciation and radiation of hermaphrodite lineages. Species tree methods using 876 single-copy nuclear genes and extensive geographic coverage produced conflicting topologies with respect to geographic clades of F. vesiculosus. All methods, however, revealed a new and early diverging hermaphrodite species, Fucus macroguiryi sp. nov. Both the multispecies coalescent and polymorphism-aware models (in contrast to concatenation) support sequential paraphyly in F. vesiculosus resulting from distinct evolutionary processes. Our results support (1) peripheral isolation of the southern F. vesiculosus clade prior to parapatric speciation and radiation of hermaphrodite lineages-a "low-latitude species pump". (2) Directional introgressive gene flow into F. vesiculosus around the present-day secondary contact zone (sympatric-allopatric boundary) between dioecious/hermaphrodite lineages as hermaphrodites expanded northwards, supported by concordance analysis and statistical tests of introgression. (3) Species boundaries in the extensive sympatric range are probably maintained by reproductive system (selfing in hermaphrodites) and reinforcement.


Assuntos
Fucus , Fluxo Gênico , Fucus/genética , Filogenia , Filogeografia , Reprodução/genética , Simpatria
7.
Ther Adv Chronic Dis ; 13: 20406223221098136, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35620188

RESUMO

Cystic fibrosis (CF), a life-limiting chronic disease caused by mutations in the cystic fibrosis transmembrane regulator (CFTR) gene, affects more than 90,000 people worldwide. Until recently, the only available treatments were directed to symptom control, but they failed to change the course of the disease. New drugs developed in the last decade have the potential to change the expression, function, and stability of CFTR protein, targeting the basic molecular defect. The authors seek to provide an update on the new drugs, with a special focus on the most promising clinical trials that have been carried out to date. These newly approved drugs that target specific CFTR mutations are mainly divided into two main groups of CFTR modulators: potentiators and correctors. New therapies have opened the door for potentially disease-modifying, personalized treatments for patients with CF.

8.
Sci Total Environ ; 835: 155349, 2022 Aug 20.
Artigo em Inglês | MEDLINE | ID: mdl-35461945

RESUMO

The present study aims to investigate the sources of particulate pollution in indoor and outdoor environments, with focus on determining their contribution to the exposure of children to airborne particulate matter (PM). To this end, parallel indoor and outdoor measurements were carried out for a selection of 40 homes and 5 schools between September 2017 and October 2018. PM2.5 and PM2.5-10 samples were collected during five days in each microenvironment (ME) and analysed by X-Ray Fluorescence (XRF), for the determination of elements, and by a thermal-optical technique, for the measurement of organic and elemental carbon. The source apportionment analysis of the PM composition data, by means of the receptor model SoFi (Source Finder) 8 Pro, resulted in the identification of nine sources: exhaust and non-exhaust emissions from traffic, secondary particles, heavy oil combustion, industry, sea salt, soil, city dust, and an indoor source characterized by high levels of organic carbon. Integrated daily exposure to PM2.5 was on average 21 µg/m3. The organic matter, resulting from cleaning, cooking, smoking and biological material, was the major source contributing by 31% to the PM2.5 exposure. The source city dust, which was highly influenced by the resuspension of dust in classrooms, was the second main source (26%), followed by traffic (24%). The major sources affecting the integrated exposure to PM10, which was on average 33 µg/m3, were the city dust (39%), indoor organics (24%) and traffic (16%). This study provides important information for the design of measures to reduce the exposure of children to PM.


Assuntos
Poluentes Atmosféricos , Poluição do Ar em Ambientes Fechados , Poluentes Atmosféricos/análise , Poluição do Ar em Ambientes Fechados/análise , Carbono/análise , Criança , Poeira/análise , Monitoramento Ambiental/métodos , Humanos , Tamanho da Partícula , Material Particulado/análise
9.
Cancer Treat Res Commun ; 31: 100526, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35114501

RESUMO

Introduction of EGFR-TKI has changed the treatment paradigm for NSCLC patient with activating mutations of EGFR exons 18-21, replacing chemotherapy as standard first line treatment. Given the delays in molecular study results we sometimes face the need to start treatment in very symptomatic patients with high tumor burden. The reason for this retrospective study is to analyze the survival impact of performing an induction cytotoxic therapy until obtaining the molecular profile (EGFR mutation), followed by targeted therapy. This is a retrospective analysis of 31 patients who did upfront chemotherapy (ChT) before switching to EGFR TKI upon the molecular profile result. The calculated survival endpoints were progression-free survival (PFS), duration of TKI response and overall survival (OS). All patients were treated with upfront chemotherapy with a median of one cycle (range 1-3) followed by a first generation EGFR-TKI. Median PFS was 13 months (95% CI, 6.6-19.4) and median OS 33 months (95% CI, 11.9-54.0). After first line progression 14 patients were treated with Osimertinib. In this subgroup median OS was 52 months (95% CI, 34.0-69.9). In the multivariable Cox model, only body mass index retained independent prognostic significance for progression-free survival (p = 0.045). Survival outcomes in this cohort are in line with published data regarding first generation EGFR-TKI, both in terms of PFS and OS. Despite the limitations of this study, starting with upfront chemotherapy doesn't seem detrimental in terms of survival outcomes, with the potential advantage of symptomatic control. To our knowledge, this is the first study to address this strategy, which requires further confirmation.


Assuntos
Carcinoma Pulmonar de Células não Pequenas , Neoplasias Pulmonares , Carcinoma Pulmonar de Células não Pequenas/tratamento farmacológico , Carcinoma Pulmonar de Células não Pequenas/genética , Carcinoma Pulmonar de Células não Pequenas/patologia , Receptores ErbB/genética , Humanos , Quimioterapia de Indução , Neoplasias Pulmonares/tratamento farmacológico , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/patologia , Mutação , Platina/uso terapêutico , Inibidores de Proteínas Quinases/farmacologia , Inibidores de Proteínas Quinases/uso terapêutico , Estudos Retrospectivos
10.
Psychotherapy (Chic) ; 59(2): 261-270, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-34990161

RESUMO

Fear of cancer recurrence (FCR) is a main concern for most cancer survivors and can bring significant distress impacting well-being and quality of life. Although other psychological approaches have been developed for dysfunctional FCR, based on previous research, emotion-focused therapy (EFT) might also be a relevant intervention for treating this concern. A total of 17 adults with a cancer diagnosis and presenting FCR among other cancer-related concerns were offered EFT, delivered in a regular practice in a cancer hospital (mean number of sessions = 13, range: 4-25). Outcome and process instruments were used to assess general psychological distress, client-generated outcome items, and helpful and hindering aspects of therapy. Significant pre-post outcome differences were found, both for client-generated (d = 1.53) and standard (d = .88) measures, with no cases of reliable deterioration, although most patients did not show clinically significant change by the end of therapy. The most frequent helpful in-session processes were client verbal expression of experience and work on parts of self; the most common immediate session impacts were positive feelings and self-realizations. EFT may be a useful alternative treatment for FCR. (PsycInfo Database Record (c) 2022 APA, all rights reserved).


Assuntos
Terapia Focada em Emoções , Adulto , Medo/psicologia , Hospitais , Humanos , Recidiva Local de Neoplasia/psicologia , Recidiva Local de Neoplasia/terapia , Avaliação de Resultados em Cuidados de Saúde , Qualidade de Vida/psicologia
11.
Front Oncol ; 11: 815772, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-35155205

RESUMO

Breast cancer (BC) is the most common malignancy and the second cause of cancer-specific death in women from high-income countries. Infectious agents are the third most important risk factor for cancer incidence after tobacco and obesity. Dysbiosis emerged as a key player that may influence cancer development, treatment, and prognosis through diverse biological processes. Metastatic BC has a highly variable clinical course, and more recently, immune checkpoint inhibitors (ICIs) have become an emerging therapy in BC. Even with standardised treatment protocols, patients do not respond similarly, reflecting each individual´s heterogeneity, unique BC features, and tumour microenvironment. However, there is insufficient data regarding predictive factors of response to available treatments for BC. The microbiota could be a crucial piece of the puzzle to anticipate better individual BC risk and prognosis, pharmacokinetics, pharmacodynamics, and clinical efficacy. In recent years, it has been shown that gut microbiota may modulate cancer treatments' efficacy and adverse effects, and it is also apparent that both cancer itself and anticancer therapies interact with gut microbiota bidirectionally. Moreover, it has been proposed that certain gut microbes may protect the host against inappropriate inflammation and modulate the immune response. Future clinical research will determine if microbiota may be a prognostic and predictive factor of response to ICI and/or its side effects. Also, modulation of microbiota can be used to improve outcomes in BC patients. In this review, we discuss the potential implications of metabolomics and pharmacomicrobiomics that might impact BC immunotherapy treatment.

12.
Front Psychol ; 11: 542444, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33101117

RESUMO

In patients with physical chronic diseases, the prevalence of major depressive disorder (MDD) is approximately 2- to 3-fold higher than in the general population, and it can reach up to 20-40%. The comorbidity of MDD with chronic medical diseases is associated with poorer quality of life, increased medical symptom burden, poor adherence to self-care regimens, increased risk of functional impairment, morbidity, and mortality, and also higher medical costs. Despite this evidence, in routine practice, psychological issues and concerns are frequently inadequately managed. This consensus document proposes that a proper diagnosis, a multidisciplinary approach, and a personalized treatment plan would allow patients with MDD and chronic comorbidities to be more compliant, to improve the outcomes, to reduce possible relapses in the long term, and to prevent or better manage complications and adverse events. This proposal might be useful for any health professionals who deal with patients with chronic diseases, as it can help to pay more attention to the emotional impact of these conditions, in particular in terms of depressive symptoms.

13.
Artigo em Inglês | MEDLINE | ID: mdl-32708187

RESUMO

Passive diffusion tubes for volatile organic compounds (VOCs) and carbonyls and low volume particulate matter (PM2.5) samplers were used simultaneously in kitchens and outdoor air of four dwellings. PM2.5 filters were analysed for their carbonaceous content (organic and elemental carbon, OC and EC) by a thermo-optical technique and for polycyclic aromatic hydrocarbon (PAHs) and plasticisers by GC-MS. The morphology and chemical composition of selected PM2.5 samples were characterised by SEM-EDS. The mean indoor PM2.5 concentrations ranged from 14 µg m-3 to 30 µg m-3, while the outdoor levels varied from 18 µg m-3 to 30 µg m-3. Total carbon represented up to 40% of the PM2.5 mass. In general, the indoor OC/EC ratios were higher than the outdoor values. Indoor-to-outdoor ratios higher than 1 were observed for VOCs, carbonyls and plasticisers. PAH levels were much higher in the outdoor air. The particulate material was mainly composed of soot aggregates, fly ashes and mineral particles. The hazard quotients associated with VOC inhalation suggested a low probability of non-cancer effects, while the cancer risk was found to be low, but not negligible. Residential exposure to PAHs was dominated by benzo[a]pyrene and has shown to pose an insignificant cancer risk.


Assuntos
Poluentes Atmosféricos/análise , Poluição do Ar em Ambientes Fechados/análise , Material Particulado/análise , Monitoramento Ambiental , Gases , Humanos , Tamanho da Partícula , Hidrocarbonetos Policíclicos Aromáticos/análise
14.
Neuropsychol Rev ; 30(3): 287-309, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32607817

RESUMO

This systematic review explored the neurobiological mechanisms underlying the clinical time course of cancer-related cognitive impairment (CRCI) in breast cancer patients through the review of longitudinal neuroimaging studies. Before chemotherapy, results reported no evidence for neuropsychological, structural (gray matter) and brain perfusion changes. However, functional brain alterations were evident and revealed a frontoparietal hyperactivation during working memory tasks. Fatigue and number of days since surgery were the two suggested confounding factors. Acutely after chemotherapy, this review found no evidence for neuropsychological changes while suggesting a pattern of frontal structural, perfusion and functional brain abnormalities. These findings seemed to be dependent on age, menopausal status at baseline, and fMRI task performed. Years after chemotherapy, results revealed evidence of partial neuropsychological, structural, and functional brain recovery. Regarding brain abnormality, this review suggested that it may begin quite early in the disease course, be more prominent shortly after chemotherapy and partially recover over time. Several hypotheses underlying these changes were discussed. The present review also provided important information for developing a time-specific treatment and prevention strategies and for the consideration of functional neuroimaging as a relevant tool for CRCI diagnosis, clinical monitoring, and intervention studies. The findings also suggested the need to implement studies with longitudinal designs, including a pre-treatment assessment, since cross-sectional studies were not able to detect this pattern of recovery over time, supporting only the theory of brain abnormalities, in breast cancer survivors.


Assuntos
Neoplasias da Mama/psicologia , Comprometimento Cognitivo Relacionado à Quimioterapia/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Adulto , Encéfalo/fisiopatologia , Disfunção Cognitiva/diagnóstico por imagem , Estudos Transversais , Feminino , Humanos , Estudos Longitudinais , Memória de Curto Prazo , Pessoa de Meia-Idade , Neuroimagem , Testes Neuropsicológicos
15.
Artigo em Inglês | MEDLINE | ID: mdl-32429196

RESUMO

The use of electronic cigarettes (e-cigarettes) and heat-not-burn tobacco (HNBT), as popular nicotine delivery systems (NDS), has increased among adult demographics. This study aims to assess the effects on indoor air quality of traditional tobacco cigarettes (TCs) and new smoking alternatives, to determine the differences between their potential impacts on human health. Measurements of particulate matter (PM1, PM2.5 and PM10), black carbon, carbon monoxide (CO) and carbon dioxide (CO2) were performed in two real life scenarios, in the home and in the car. The results indicated that the particle emissions from the different NDS devices were significantly different. In the home and car, the use of TCs resulted in higher PM10 and ultrafine particle concentrations than when e-cigarettes were smoked, while the lowest concentrations were associated with HNBT. As black carbon and CO are released by combustion processes, the concentrations of these two pollutants were significantly lower for e-cigarettes and HNBT because no combustion occurs when they are smoked. CO2 showed no increase directly associated with the NDS but a trend linked to a higher respiration rate connected with smoking. The results showed that although the levels of pollutants emitted by e-cigarettes and HNBT are substantially lower compared to those from TCs, the new smoking devices are still a source of indoor air pollutants.


Assuntos
Poluentes Atmosféricos , Sistemas Eletrônicos de Liberação de Nicotina , Poluentes Ambientais , Produtos do Tabaco , Poluição por Fumaça de Tabaco , Adulto , Poluentes Atmosféricos/análise , Poluição do Ar em Ambientes Fechados , Humanos , Material Particulado , Poluição por Fumaça de Tabaco/análise
16.
Int J Infect Dis ; 95: 153-156, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32311452

RESUMO

Herpes Simplex Virus (HSV) is the leading cause of genital ulcers worldwide. In Human Immunodeficiency Virus (HIV) co-infected individuals, rare hypertrophic pseudo-tumoral forms have been described as simulating squamous cell carcinoma or other viral infections such as those caused by Varicella zoster, Molluscum contagiosum and HPV induced lesions. Here, we report a case of hypertrophic genital herpes in an HIV-infected patient effectively treated with surgery and topical 5% imiquimod after the recurrence of lesions. A 45-year-old woman, HIV-positive for 17 years and on regular antiretroviral therapy, presented with a painful 2cm vulvar sessile lesion, a 1cm ulcerated lesion on the clitoral hood, and a slightly elevated lesion in the middle third of the tongue. Excisional biopsy and surgical removal of lesion were performed for histopathological exam. Histopathology of genital lesions showed evidence of chronic lymphoplasmacytic inflammation, intense ulcerated plasmacytosis, and squamous cells displaying HSV cytopathogenic effect. After three months, the patient presented with a new ulcerated perineal lesion. Histopathology showed evidence of chronic ulcerative-vegetative herpetic dermatitis. Consequently, topical 5% imiquimod was administered with successful results. Relapsing character and atypical genital disease evolution with an exophytic pseudotumoral injury have been noted in patients co-infected with HIV and HSV, necessitating anatomopathological recognition for diagnostic confirmation and exclusion of malignancy. Local immunotherapy should be considered as treatment approach.


Assuntos
Antivirais/uso terapêutico , Coinfecção , Infecções por HIV/complicações , Herpes Genital/tratamento farmacológico , Herpes Genital/patologia , Imiquimode/uso terapêutico , Feminino , Herpes Genital/complicações , Herpes Genital/diagnóstico , Humanos , Hipertrofia , Pessoa de Meia-Idade , Úlcera/patologia , Vulva/patologia
17.
DST j. bras. doenças sex. transm ; 32: 1-4, jan. 12, 2020.
Artigo em Inglês | LILACS | ID: biblio-1123230

RESUMO

Introduction: Syphilis and HIV infections are sexually transmitted infections whose diagnosis and treatment contribute toward preventing congenital transmission. Objective: To report a case of three sexually transmitted infections detected in a male partner during Couple Consultation and syphilis in the female partner during prenatal care. Case report: A 34-year-old black female G2P1 pregnant woman was referred to an outpatient clinic of sexually transmitted infections in Vitória, Brazil, reporting a 30-day evolution of painless papular lesions in the external genitalia, suggestive of condylomata lata. Nontreponemal tests were positive for syphilis and negative for HIV. The husband reported unprotected receptive anal intercourse and possessed anal condylomatous lesions and perianal condylomata lata. He was positive for both HIV and syphilis. Histopathological findings showed low-grade HPV lesions and the PCR test found 16, 39, and 53 HPV subtypes. Treatment with benzathine penicillin G was successful for both partners. Conclusion: This study emphasizes the need for Couple Consultation during pregnancy to identify and treat possible sexually transmitted infections.


Introdução: As infecções por sífilis e HIV são infecções sexualmente transmissíveis cujo diagnóstico e tratamento contribuem para a prevenção da transmissão congênita. Objetivo: Relatar um caso de três infecções sexualmente transmissíveis detectadas em um parceiro masculino durante a consulta do casal e sífilis na parceira durante o pré-natal. Relato de caso: Uma gestante, negra, G2P1, 34 anos, foi encaminhada a um ambulatório de infecções sexualmente transmissíveis em Vitória, Brasil, relatando uma evolução de 30 dias de lesões papulares indolores na genitália externa, sugestivas de condiloma lata. Os testes não treponêmicos foram positivos para sífilis e negativos para HIV. O marido relatou relação sexual anal receptiva desprotegida e possuía lesões condilomatosas anais e condiloma lata perianal. Ele testou positivo tanto para HIV quanto para sífilis. Os achados histopatológicos mostraram lesão de HPV de baixo grau e o teste de PCR encontrou subtipos de HPV 16, 39 e 53. O tratamento com penicilina benzatina G foi bem­sucedido em ambos os parceiros. Conclusão: Este estudo enfatiza a necessidade de consultas de casal durante a gravidez para identificar e tratar possíveis infecções sexualmente transmissíveis.


Assuntos
Humanos , Masculino , Feminino , Gravidez , Adulto , Infecções Sexualmente Transmissíveis/complicações , Penicilina G Benzatina/uso terapêutico , Cuidado Pré-Natal , Bissexualidade , Condiloma Acuminado/complicações , Condiloma Acuminado/patologia , Condiloma Acuminado/tratamento farmacológico , Sífilis/complicações , Sífilis/patologia , Sífilis/tratamento farmacológico , Infecções Sexualmente Transmissíveis/patologia , Infecções Sexualmente Transmissíveis/tratamento farmacológico , Infecções por HIV/complicações , Lesões Intraepiteliais Escamosas/patologia , Antibacterianos/uso terapêutico
18.
Front Oncol ; 10: 598508, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33425755

RESUMO

Ethical issues that arise during the care of a pregnant woman with cancer are challenging to physicians, policymakers, lawyers, and the bioethics community. The main purpose of this scoping review is to summarize existing literature regarding the bioethical dilemmas when a conflict arises in the maternal-fetus dyad, like the one related to cancer and pregnancy outcomes. Moreover, we illustrate the decision-making process of real-life case reports. Published data were searched through the PubMed and Google Scholar databases, as well as in grey literature, using appropriate controlled keywords in English and Portuguese. After identification, screening, eligibility and data extraction from the articles, a total of 50 was selected. There are several established ethical frameworks for conflict resolution and decision-making. Pragmatic theoretical approaches include case-based analysis, the ethics of care, feminist theory, and traditional ethical principlism that scrutinizes the framework of autonomy, justice, beneficence, and non-maleficence. In addition, society and practitioner values could mediate this complex ethical interplay. The physician must balance autonomy and beneficence-based obligations to the pregnant woman with cancer, along with beneficence-based obligations to the fetus. Ethical challenges have received less attention in the literature, particularly before the third trimester of pregnancy. Best, unbiased and balanced information must be granted both to the patient and to the family, regarding the benefits and harms for the woman herself as well as for the fetal outcome. Based on a previously validated method for analyzing and working up clinical ethical problems, we suggest an adaptation of an algorithm for biomedical decision-making in cancer during pregnancy, including recommendations that can facilitate counseling and help reduce the suffering of the patient and her family.

19.
Environ Pollut ; 249: 248-256, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30893637

RESUMO

People spend one third of their life sleeping, but the bedroom, as a specific micro-environment, is often neglected when assessing human exposure to air pollutants. However, exposure during sleep may be significant in the long-term to the integrated individual exposure. This study aimed to assess the exposure during sleep, focusing on a multi-pollutant approach (comfort parameters, carbon dioxide - CO2, carbon monoxide - CO, formaldehyde (CH2O), total volatile organic compounds (VOCs), particulate matter - PM2.5 and PM10 - and ultrafine particles, particle number concentrations - PNC - and lung deposited surface area - LDSA). For that, the air quality during sleep (in real conditions) was monitored using real-time devices in 12 bedrooms of urban (Lisbon and Vila Franca de Xira) and rural (Ponte de Sor) areas of Portugal for one night. Volunteers were smokers and non-smokers. Considering the Portuguese legislation for indoor air quality (IAQ), 67% of the bedrooms registered CO2 levels above the limit value, while CH2O, VOC, PM10 and PM2.5 thresholds were exceeded in 30, 100, 36, and 45% of cases, respectively. Regarding ultrafine parameters, LDSA and PNC ranged from 7.3 to 95.2 µm2/cm3 and from 0.6 to 4.8 × 103/cm3, respectively. Even with no smoking indoors, smokers' bedrooms were found to have significant higher levels of CO, CH2O, PM2.5, PM10 and LDSA than non-smokers' bedrooms, showing the effect of thirdhand smoke, exhalation of pollutants after smoking and infiltration on the degradation of the air quality in the bedroom. A recent new model of real-time monitor was also used for a wide set of IAQ parameters. Its performance to measure PM2.5 and CO2 was assessed, showing its applicability in real conditions. Although often neglected, these micro-environments should be considered in the integrated individual exposure to air pollutants and further studied. MAIN FINDINGS OF THE WORK: Several pollutants (CO2, PM, VOCs and CH2O) exceeded the guidelines during sleep; smokers are exposed to higher levels of CO, CH2O, PM, and LDSA than non-smokers while sleeping.


Assuntos
Poluição do Ar em Ambientes Fechados/análise , Monitoramento Ambiental , Poluentes Atmosféricos/análise , Poluição do Ar/análise , Poluição do Ar em Ambientes Fechados/estatística & dados numéricos , Dióxido de Carbono/análise , Monóxido de Carbono , Formaldeído/análise , Humanos , não Fumantes , Material Particulado/análise , Portugal , Fumantes , Compostos Orgânicos Voláteis/análise
20.
Molecules ; 24(4)2019 Feb 18.
Artigo em Inglês | MEDLINE | ID: mdl-30781675

RESUMO

The stabilization of G-Quadruplex DNA structures by ligands is a promising strategy for telomerase inhibition in cancer therapy since this enzyme is responsible for the unlimited proliferation of cancer cells. To assess the potential of a compound as a telomerase inhibitor, selectivity for quadruplex over duplex DNA is a fundamental attribute, as the drug must be able to recognize quadruplex DNA in the presence of a large amount of duplex DNA, in the cellular nucleus. By using different spectroscopic techniques, such as ultraviolet-visible, fluorescence and circular dichroism, this work evaluates the potential of a series of multicharged phthalocyanines, bearing four or eight positive charges, as G-Quadruplex stabilizing ligands. This work led us to conclude that the existence of a balance between the number and position of the positive charges in the phthalocyanine structure is a fundamental attribute for its selectivity for G-Quadruplex structures over duplex DNA structures. Two of the studied phthalocyanines, one with four peripheral positive charges (ZnPc1) and the other with less exposed eight positive charges (ZnPc4) showed high selectivity and affinity for G-Quadruplex over duplex DNA structures and were able to accumulate in the nucleus of UM-UC-3 bladder cancer cells.


Assuntos
DNA/química , Inibidores Enzimáticos/química , Corantes Fluorescentes/química , Quadruplex G/efeitos dos fármacos , Indóis/química , Linhagem Celular Tumoral , Complexos de Coordenação/química , Humanos , Isoindóis , Ligantes , Espectrometria de Fluorescência/métodos , Relação Estrutura-Atividade , Telomerase/antagonistas & inibidores , Zinco/química
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