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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.
Artigo em Inglês | MEDLINE | ID: mdl-37998292

RESUMO

Along with climate change, air pollution is one of the biggest environmental problems affecting everyone in the world today [...].


Assuntos
Poluentes Atmosféricos , Poluição do Ar , Humanos , Poluição do Ar/análise , Mudança Climática , Poluentes Atmosféricos/análise
3.
Sci Rep ; 13(1): 14278, 2023 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-37652978

RESUMO

Urban vegetable gardens are very often a feature of cities that want to offer their citizens a more sustainable lifestyle by producing their own food products. However, cities can have significant pollution levels (or pollution hotspots) due to specific sources of pollution, such as traffic. Among the various pollutants, microplastics (MPs) are emerging as a consensual concern due to the awareness of the environmental contamination, their bioaccumulation potential and human intake, and, consequently unknown human health impacts. The present study compared the content of MPs in lettuce plants cultivated in Lisbon urban gardens with those cultivated in a rural area, as well as samples bought in supermarkets. Microplastics were detected in all washed leaves, with mean levels ranging from 6.3 ± 6.2 to 29.4 ± 18.2 MPs/g. Lettuce grown in urban gardens from areas with high traffic density showed higher MPs levels. Weak positive Spearman's rank correlations were found between MPs content and concentrations of Cu and S (determined by Particle Induced X-Ray Emission, PIXE), suggesting a possible role of traffic contribution to MPs levels, as both elements are considered traffic-source tracers. These results contribute to shed light on the MP contamination of vegetables grown in such urban environments, that may represent a potential MP exposure route through the dietary intake, corresponding to a 70% increase in annual MP intake compared to lettuces bought in supermarkets.


Assuntos
Verduras , Humanos , Jardins , Plásticos , Microplásticos , Portugal
5.
Sci Total Environ ; 900: 165860, 2023 Nov 20.
Artigo em Inglês | MEDLINE | ID: mdl-37516189

RESUMO

This paper presents a source apportionment study performed on a dataset collected at a trafficked site in Coimbra (Portugal) during the period December 2018-June 2019. The novelty of this work consists in the methodological approach used and the sensitivity study carried out to give hints to potential future applications. Indeed, a multi-time resolution and multi-parameter study was performed joining together aerosol data from 24-h chemically characterized samples and high-time resolution multi-wavelength absorption coefficients retrieved by an Aethalometer. A detailed sensitivity study on the most suitable combination of time resolution and uncertainties was carried out to obtain reliable physical and stable solutions over all analyses. In parallel, a regular EPA-PMF source apportionment study using chemical and optical variables averaged on 24 h is presented and discussed in comparison to the more complex multi-time and multi-parameter approach. Apart from results pertaining to the identification and relevance of different sources in Coimbra, the methodological results shown here can give guidance for readers who want to implement optical variables jointly with chemical ones in the same model run.

6.
Rev Port Cardiol ; 42(8): 697-707, 2023 08.
Artigo em Inglês, Português | MEDLINE | ID: mdl-37271307

RESUMO

INTRODUCTION AND OBJECTIVES: This study reports the results of an online survey carried out by the Portuguese Society of Cardiology about its medical members' work characteristics before and during the COVID-19 pandemic, their job satisfaction, work motivation, and burnout. METHODS: A sample of 157 participants answered a questionnaire with demographic, professional, and health-related information, followed by questionnaires on job satisfaction and motivation designed and validated for this study and a Portuguese version of the Maslach Burnout Inventory. Data were analyzed through descriptive statistics, ANOVA, and MANOVA, considering gender, professional level, and sector of activity, respectively. Multiple regression was used to assess the impact of job satisfaction and motivation on burnout. RESULTS: The only variable that distinguished participants was sector of activity. Cardiologists working in the private sector worked fewer weekly hours during COVID-19, while those in the public sector worked more. The latter expressed more desire to reduce their working hours than those who worked in private medicine and in both sectors. There were no differences between sectors in work motivation, while job satisfaction was higher in the private sector. Moreover, job satisfaction negatively predicted burnout. CONCLUSIONS: Our findings point to a deterioration in working conditions during the COVID-19 pandemic, with its consequences being felt especially in the public sector, which may have contributed to the lower levels of satisfaction among cardiologists who worked exclusively in this sector, but also for those working in both public and private sectors.


Assuntos
Esgotamento Profissional , COVID-19 , Cardiologistas , Humanos , Portugal , Pandemias , Satisfação no Emprego , Esgotamento Profissional/epidemiologia , Inquéritos e Questionários
7.
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
8.
Artigo em Inglês | MEDLINE | ID: mdl-37107846

RESUMO

This study investigated the suitability of outdoor particulate matter data obtained from a fixed monitoring station in estimating the personal deposited dose. Outdoor data were retrieved from a station located within the urban area of Lisbon and simulations were performed involving school children. Two scenarios were applied: one where only outdoor data were used assuming an outdoor exposure scenario, and a second one where an actual exposure scenario was adopted using the actual microenvironment during typical school days. Personal PM10 and PM2.5 dose (actual exposure scenario) was 23.4% and 20.2% higher than the ambient (outdoor exposure scenario) PM10 and PM2.5 doses, respectively. The incorporation of the hygroscopic growth in the calculations increased the ambient dose of PM10 and PM2.5 by 8.8% and 21.7%, respectively. Regression analysis between the ambient and personal dose showed no linearity with R2 at 0.07 for PM10 and 0.22 for PM2.5. On the other hand, linear regression between the ambient and school indoor dose showed no linearity (R2 = 0.01) for PM10 but moderate (R2 = 0.48) for PM2.5. These results demonstrate that ambient data must be used with caution for the representativeness of a realistic personal dose of PM2.5 while for PM10 the ambient data cannot be used as a surrogate of a realistic personal dose of school children.


Assuntos
Poluentes Atmosféricos , Poluição do Ar em Ambientes Fechados , Humanos , Criança , Material Particulado/análise , Poluentes Atmosféricos/análise , Monitoramento Ambiental/métodos , Poluição do Ar em Ambientes Fechados/análise , Medição de Risco , Tamanho da Partícula , Exposição Ambiental/análise
9.
Rev Bras Enferm ; 76Suppl 4(Suppl 4): e20210975, 2023.
Artigo em Inglês, Português | MEDLINE | ID: mdl-37075359

RESUMO

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.


Assuntos
Cuidados de Enfermagem , Processo de Enfermagem , Humanos , Prática Profissional
10.
Artigo em Inglês | MEDLINE | ID: mdl-36900825

RESUMO

Air pollution is known to be one of the main causes of injuries to the respiratory system and even premature death. Gases, particles, and biological compounds affect not only the air we breathe outdoors, but also indoors. Children are highly affected by the poor quality of the air they breathe because their organs and immune systems are still in the developmental stages. To contribute to raising children's awareness to these concerns, this article presents the design, implementation, and experimental validation of an serious augmented reality game for children to playfully learn about air quality by interacting with physical sensor nodes. The game presents visual representations of the pollutants measured by the sensor node, rendering tangible the invisible. Causal knowledge is elicited by stimulating the children to expose real-life objects (e.g., candles) to the sensor node. The playful experience is amplified by letting children play in pairs. The game was evaluated using the Wizard of Oz method in a sample of 27 children aged between 7 and 11 years. The results show that the proposed game, in addition to improving children's knowledge about indoor air pollution, is also perceived by them as easy to use and a useful learning tool that they would like to continue using, even in other educational contexts.


Assuntos
Poluição do Ar em Ambientes Fechados , Poluição do Ar , Realidade Aumentada , Humanos , Criança , Escolaridade , Instituições Acadêmicas
11.
Artigo em Inglês | MEDLINE | ID: mdl-36901085

RESUMO

Air pollution is an important source of morbidity and mortality. It is essential to understand to what levels of air pollution citizens are exposed, especially in urban areas. Low-cost sensors are an easy-to-use option to obtain real-time air quality (AQ) data, provided that they go through specific quality control procedures. This paper evaluates the reliability of the ExpoLIS system. This system is composed of sensor nodes installed in buses, and a Health Optimal Routing Service App to inform the commuters about their exposure, dose, and the transport's emissions. A sensor node, including a particulate matter (PM) sensor (Alphasense OPC-N3), was evaluated in laboratory conditions and at an AQ monitoring station. In laboratory conditions (approximately constant temperature and humidity conditions), the PM sensor obtained excellent correlations (R2≈1) against the reference equipment. At the monitoring station, the OPC-N3 showed considerable data dispersion. After several corrections based on the k-Köhler theory and Multiple Regression Analysis, the deviation was reduced and the correlation with the reference improved. Finally, the ExpoLIS system was installed, leading to the production of AQ maps with high spatial and temporal resolution, and to the demonstration of the Health Optimal Routing Service App as a valuable tool.


Assuntos
Poluentes Atmosféricos , Poluição do Ar , Poluentes Atmosféricos/análise , Cidades , Reprodutibilidade dos Testes , Monitoramento Ambiental/métodos , Poluição do Ar/análise , Material Particulado/análise , Veículos Automotores
12.
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
13.
Urban Clim ; 49: 101446, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36820273

RESUMO

The lockdowns held due to the COVID-19 pandemic conducted to changes in air quality. This study aimed to understand the variability of PM2.5 levels and composition in an urban-industrial area of the Lisbon Metropolitan Area and to identify the contribution of the different sources. The composition of PM2.5 was assessed for 24 elements (by PIXE), secondary inorganic ions and black carbon. The PM2.5 mean concentration for the period (December 2019 to November 2020) was 13 ± 11 µg.m-3. The most abundant species in PM2.5 were BC (19.9%), SO4 2- (15.4%), NO3 - (11.6%) and NH4 + (5.3%). The impact of the restrictions imposed by the COVID-19 pandemic on the PM levels was found by comparison with the previous six years. The concentrations of all the PM2.5 components, except Al, Ba, Ca, Si and SO4 2-, were significantly higher in the winter/pre-confinement than in post-confinement period. A total of seven sources were identified by Positive Matrix Factorisation (PMF): soil, secondary sulphate, fuel-oil combustion, sea, vehicle non-exhaust, vehicle exhaust, and industry. Sources were greatly influenced by the restrictions imposed by the COVID-19 pandemic, with vehicle exhaust showing the sharpest decrease. Secondary sulphate predominated in summer/post-confinement. PM2.5 levels and composition also varied with the types of air mass trajectories.

14.
BJPsych Int ; 20(1): 13-17, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36812036

RESUMO

This paper compares across six nations the mental health systems available to prisoners with the highest acuity of psychosis and risk combined with the lowest level of insight into the need for treatment. Variations were observed within and between nations. Findings highlight the likely impact of factors such as mental health legislation and the prison mental health workforce on a nation's ability to deliver timely and effective treatment close to home for prisoners who lack capacity to consent to treatment for their severe mental illness. The potential benefits of addressing the resulting inequalities are noted.

15.
J Psychopharmacol ; 37(3): 279-288, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36377523

RESUMO

BACKGROUND: Generalized anxiety disorder (GAD) is commonly co-morbid with major depressive disorder (MDD) and is associated with greater functional impairment and poorer treatment outcomes than MDD alone. However, studies on treatment with drugs for depression in patients with MDD and co-morbid GAD are limited. AIMS: To examine the effectiveness of vortioxetine treatment in patients with MDD and co-morbid GAD in a subgroup analysis of the real-world RELIEVE study. METHODS: The analysis included outpatients diagnosed with MDD and co-morbid GAD who initiated vortioxetine treatment at their physician's discretion in the 24-week, observational RELIEVE study. Primary outcome was patient functioning (Sheehan Disability Scale (SDS)) after 12 and 24 weeks of vortioxetine treatment; secondary outcomes included depression severity (9-item Patient Health Questionnaire (PHQ-9)), cognitive symptoms (5-item Perceived Deficits Questionnaire - Depression (PDQ-D-5)) and cognitive performance (Digit Symbol Substitution Test (DSST)). RESULTS: Overall, 180 patients with MDD and co-morbid GAD were included in the analysis. Following vortioxetine initiation, clinically significant improvements in patient functioning (SDS total score) were observed at week 12 (least-squares (LS) mean reduction from baseline, 7.5 points), sustained through week 24 (9.2 points) (both p < 0.0001). LS mean PHQ-9, PDQ-D-5 and DSST scores improved by 7.9, 4.8 and 7.4 points at week 24, respectively (all p < 0.0001 vs baseline). Adverse events were reported by 33.9% of patients (most commonly nausea, 13.3%). CONCLUSIONS: In routine clinical practice, vortioxetine was associated with clinically meaningful, sustained improvements in functioning, and depressive and cognitive symptoms, in patients with MDD and co-morbid GAD. CLINICAL TRIALS REGISTRY NAME AND IDENTIFIER: Real-life Effectiveness of Vortioxetine in Depression (RELIEVE) (NCT03555136) https://clinicaltrials.gov/ct2/show/NCT03555136.


Assuntos
Transtorno Depressivo Maior , Humanos , Transtornos de Ansiedade/tratamento farmacológico , Cognição , Transtorno Depressivo Maior/psicologia , Método Duplo-Cego , Resultado do Tratamento , Vortioxetina/efeitos adversos
16.
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.

17.
Artigo em Inglês | MEDLINE | ID: mdl-36232060

RESUMO

This study aimed to understand the knowledge of Portuguese citizens about air quality and the extent to which the concerns about specific environmental problems can motivate their acquaintance of information. Moreover, this study also allowed to understand which information about air quality needs further dissemination to provide the citizens with all the available tools and the correct knowledge. For this, a national online survey about air quality perception was conducted, where 1131 answers were obtained and two different populations were compared: the general population and a sub-population from an urban-industrial area of Lisbon metropolitan area that had experienced frequent air pollution events in the past. Air pollution was considered the environmental topic of higher concern among this sub-population (61.4%), while in the general population it ranked thirdly (27.4%). Generally, the sub-population showed higher knowledge about air quality than the general population, with 61% being able to identify at least one air pollutant. The perception of the local air quality was also very different between populations, with 61% of the sub-population considering it poor or very poor, while only 14% of the general population had the same perception, which highlights the different levels of concern between populations. A weak knowledge about air pollutants (50% of the general population could not identify any air pollutant) and an erroneous perception of the contribution of the different pollution sources to air quality levels were found. More than 50% of the respondents of both populations were considered to not have enough information regarding the air quality in their area of residence, with the national air quality database being unknown to almost everyone. Overall, strong efforts should be made to increase the awareness about the importance of air quality, which may promote a higher acceptance of the implementation of future actions to improve air quality.


Assuntos
Poluentes Atmosféricos , Poluição do Ar , Poluentes Atmosféricos/análise , Poluição do Ar/análise , Poluição Ambiental , Humanos , Percepção , Portugal
18.
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
19.
J Control Release ; 350: 308-323, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-35995298

RESUMO

Oral sildenafil (SDF) is used to treat pulmonary arterial hypertension (PAH), and its bioavailability is approximately 40%. Several formulations of nano and microparticles (for pulmonary delivery) are being developed because it is possible to improve characteristics such as release time, bioavailability, dose, frequency, and even directly target the drug to the lungs. This review summarizes the latest SDF drug delivery systems for PAH and explains challenges related to the development, the preclinical, and the clinical studies. A scoping review was conducted by searching electronic databases including PubMed, Scopus, and Web of Science to identify studies published between 2001 and 2021. From 300 articles found, 31 met the inclusion criteria. This review identified colloidal formulations such as polymeric, lipid, and metal-organic framework nanoparticles. Strategies were determined to reach the deep airways such as polymeric microparticles, large porous microparticles, nanocomposites, and nano in microparticles. Finally, aspects related to toxicological, pharmacokinetics, and gaps in information for potential use in humans were discussed. SDF formulations are significant candidates for the treatment of PAH by inhalation. In summation, future preclinical studies are still required in large animals, as there is no particular formulation yet submitted to clinical studies.


Assuntos
Estruturas Metalorgânicas , Hipertensão Arterial Pulmonar , Administração por Inalação , Animais , Hipertensão Pulmonar Primária Familiar , Humanos , Lipídeos , Pulmão , Nanotecnologia , Citrato de Sildenafila
20.
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
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