Percorrer por autor "Moreira, Ana"
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- Assessment of immunotoxicity parameters in individuals occupationally exposed to leadPublication . García-Lestón, Julia; Roma-Torres, Joana; Mayan, Olga; Schroecksnadel, Sebastian; Fuchs, Dietmar; Moreira, Ana; Pásaro, Eduardo; Méndez, Josefina; Teixeira, João Paulo; Laffon, BlancaAlthough adverse health effects produced by lead (Pb) have long been recognized, studies regarding the immunotoxic effects of occupational exposure report conflicting results. In a previous study, alterations in some immunological parameters were noted in 70 Pb-exposed workers. In view of these results, it was of interest to extend this study comprising a larger population and increasing the number of immunological endpoints assessed. Accordingly, in this study the immunotoxic effects of occupational exposure to Pb were assessed by analyzing (1) percentages of lymphocyte subsets (CD3⁺, CD4⁺, CD8⁺, CD19⁺, and CD56⁺/16⁺); (2) concentration of plasma cytokines, namely, interleukin (IL) 2, IL4, IL6, IL10, tumor necrosis factor (TNF) α, and interferon (IFN) γ; and (3) plasma concentrations of neopterin, tryptophan (Trp), and kynurenine (Kyn). In addition, the possible influence of genetic polymorphisms in the vitamin D receptor (VDR) and δ-aminolevulinic acid dehydratase (ALAD) genes on immunotoxicity parameters was studied. Exposed workers showed significant decreases in %CD3⁺, %CD4⁺/%CD8⁺ ratio, IL4, TNFα, IFNγ, and Kyn to Trp ratio (Kyn/Trp), and significant increases in %CD8⁺, IL10, and Trp levels. All these parameters, except Trp, were significantly correlated with exposure biomarkers. No significant influence of genetic polymorphisms was observed. Significant correlation between Kyn/Trp and neopterin concentrations suggests an involvement of indoleamine 2,3-dioxygenase in the Trp metabolic alterations, which may contribute to some of the immune alterations observed. Results obtained suggest that occupational exposure to PB may influence the immune system by impairing several mechanisms, which might ultimately produce deregulation of the immune response and diminish immunosurveillance in exposed individuals.
- Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestationsPublication . Duarte, Marco; Afonso, Joana; Moreira, Ana; Antunes, Diana; Ferreira, Cristina; Correia, Hildeberto; Sequeira, SilviaLately, microdeletions of the 22q region, responsible for DiGeorge syndrome or velocardiofacial syndrome, have been increasingly related to neuropsychiatric disorders including schizophrenia and bipolar disorder. These manifestations seem to be related to certain genes located in the hemideleted region such as the proline dehydrogenase (PRODH) and the catechol-o-methyltransferase (COMT) genes. We describe a teenager who started his adolescent psychiatric care presenting cognitive impairment, irritable mood and aggressive behaviour with schizophrenia-like symptoms that scored 153 in the Positive and Negative Symptoms Scale (PANSS) assessment. Worsening of symptoms when the patient was treated with valproic acid, and plasma aminoacids showing an increase in alanine and proline, suggested a mitochondrial involvement of the proline metabolic pathway. Mild dysmorphic features also suggested a possible 22q11 deletion syndrome that was confirmed. A mutation for Hyperprolinemia type I was also detected. Knowledge of the correct diagnosis was crucial for an adequate treatment.
- Investigating the role of symptom valorisation in tuberculosis patient delay in urban areas in PortugalPublication . de Morais, Margarida; Sousa, Sofia; Marques, Jéssica; Moniz, Marta; Duarte, Raquel; Leite, Andreia; Soares, Patricia; Carreira, Mário; Pereira, Sofia; Alves, Catarina; Alves, Filipe; Rodrigues, Ana; Moreira, Ana; Cardoso, Márcia; Mota, Sandra; Gomes, Ana; Ferreira, Liliana; Lopes, Marta; Correia, Isabel; Rachadell, Juan; Gameiro, Maria; Dias, Ângela; Pereira, Manuel; Gonçalves, Jorge; Gonçalves, Maria; Taveira, Adriana; Neves, Celene; Silva, Lucinda; Mendes, Maria; Teixeira, Maria; Pereira, Maria; Piedade, Milena; Teixeira, Antónia; Carvalho, CarlosBackground: Diagnosis delay contributes to increased tuberculosis (TB) transmission and morbimortality. TB incidence has been decreasing in Portugal, but median patient delay (PD) has risen. Symptom valorisation may determine PD by influencing help-seeking behaviour. We aimed to analyse the association between symptom valorisation and PD, while characterising individuals who disregarded their symptoms. Methods: A cross-sectional study was conducted among TB patients in Lisbon and Oporto in 2019 - 2021. Subjects who delayed seeking care because they did not value their symptoms or thought these would go away on their own were considered to have disregarded their symptoms. PD was categorised using a 21-day cut-off, and a 30-day cut-off for sensitivity analysis. We estimated the effect of symptom valorisation on PD through a directed acyclic graph. Then, a multivariable regression analysis characterised patients that disregarded their symptoms, adjusting for relevant variables. We fitted Poisson regression models to estimate crude and adjusted prevalence ratios (PR). Results: The study included 75 patients. Median PD was 25 days (IQR 11.5-63.5), and 56.0% of participants had PD exceeding 21 days. Symptom disregard was reported by 38.7% of patients. Patients who did not value their symptoms had higher prevalence of PD exceeding 21 days compared to those who valued their symptoms [PR 1.59 (95% CI 1.05-2.42)]. The sensitivity analysis showed consistent point estimates but wider confidence intervals [PR 1.39 (95% CI 0.77-2.55)]. Being a smoker was a risk factor for symptom disregard [PR 2.35 (95% CI 1.14-4.82)], while living in Oporto [PR 0.35 (95% CI 0.16-0.75)] and having higher household incomes [PR 0.39 (95% CI 0.17-0.94)] were protective factors. Conclusions: These findings emphasise the importance of symptom valorisation in timely TB diagnosis. Patients who did not value their symptoms had longer PD, indicating a need for interventions to improve symptom recognition. Our findings also corroborate the importance of the socioeconomic determinants of health, highlighting tobacco as a risk factor both for TB and for PD.
- Multiple non-contiguous interstitial deletions in 5q21q22.1, including the CHD1 gene, identified in a boy with developmental delay and severe language impairmentPublication . Marques, Bárbara; Pedro, Sónia; Serafim, Sílvia; Tarelho, Ana Rita; Ferreira, Cristina; Catanho, Joana Adelaide; Moreira, Ana; Carvalho, Inês; Correia, HildebertoIntellectual disability (ID), developmental delay (DD), and behavioural disorders are complex neurodevelopmental conditions associated with multifactorial etiologies, including genetic factors. Chromosomal microarray analysis (CMA) is a valuable tool in identifying copy number variations (CNVs) contributing to neurodevelopmental disorders. Here we report a 4-year-old male with DD, severe language impairment, behavioral disturbances, macrocephaly, facial dysmorphisms, and delay walking (at 20 months). He was born to nonconsanguineous parents. Family history is significant for maternal intellectual disability and paternal neonatal hypoxic-ischemic encephalopathy, which resulted in hemiparesis and language impairment. CMA revealed three heterozygous interstitial deletions: 2.12Mb at 5q15q21.1(97929163-100045362), encompassing the CHD1 gene; 684Kb at 5q21.3(104580978-105264711), a gene-free region; and 3.69Mb at 5q21.3q22.1(107047547-110727429), including the SLC25A46 gene. Parental segregation studies revealed that all three deletions were maternally inherited. Although the identified non-contiguous losses may suggest a complex chromosomal rearrangement (CCR), no further studies were performed. Interstitial deletions of the middle region of the long arm of chromosome 5 are rare, and cases of CCR involving only this chromosome are even more rare. Most of the CCR are associated to intellectual disability. Missense variants in CHD1 have been associated with Pilarowski-Bjornsson syndrome, a neurodevelopmental disorder characterized by ID, DD, dysmorphic features, and apraxia of speech. However, deletion involving this gene are rare and may lead to speech abnormalities in the absence of intellectual disability (ID) or other major neurodevelopmental disorders. This phenotypic variability suggests that both CHD1 deletions and missense variants may exhibit variable expressivity or incomplete penetrance. This case highlights a possible link between CHD1 deletion and an autosomal dominant complex neurodevelopmental disorder and the diagnostic utility of cytogenetic studies in identifying complex genetic etiologies underlying CCR.