15 documents found, page 1 of 2
Assessing the efficacy of washing methods in reducing multi-pesticide residues ...
Carreiró, F; Barros, SC; Brites, C; Cazón, P; Torres, Duarte; Ramos, F; Silva, ASPesticides are vital for protecting crops from diseases but pose risks to human health and the environment, requiring careful evaluation. This study examines pesticide residues in rice and strategies for their removal. Brown, long-milled, and basmati-milled rice samples were spiked with 121 pesticides from different categories (e.g., carbamates, organophosphates, neonicotinoids, triazolobenzothiazoles) at 20 an...
How do hospital characteristics and ties relate to the uptake of second-generat...
Perelman, J; Duarte Ramos, F; Melo Gouveia, AM; Pinheiro, L; Ramos, F; Vogler, S; Mateus, CBackground There is limited evidence on within-country discrepancies in biosimilar uptake. This study analyzes differences in timing and diffusion of biosimilar uptake across Portuguese NHS hospitals and explores possible determinants. Research design and methods We analyzed publicly accessible consumption data of originator biologic and biosimilar drugs for adalimumab, etanercept, infliximab, rituximab, and tr...
Copy number variants prioritization after array-CGH analysis - a cohort of 1000...
Carreira, IM; Ferreira, SI; Matoso, E; Pires, LM; Ferrão, J; Jardim, A; Mascarenhas, A; Pinto, M; Lavoura, N; Pais, C; Paiva, P; Simões, L; Caramelo, FArray-based comparative genomic hybridization has been assumed to be the first genetic test offered to detect genomic imbalances in patients with unexplained intellectual disability with or without dysmorphisms, multiple congenital anomalies, learning difficulties and autism spectrum disorders. Our study contributes to the genotype/phenotype correlation with the delineation of laboratory criteria which help to ...
Osteomielite crónica multifocal recorrente: série de 4 casos clínicos tratados ...
Ferraria, N; Marques, JG; Ramos, F; Lopes, G; Fonseca, JG; Neves, MCAim: To report and describe a series of four cases of chronic recurrent multifocal osteomyelitis (CRMO) and to discuss therapeutic options, particularly bisphosphonate therapy. Methods: Retrospective review of four CRMO cases in two Pediatric Units in Lisbon, between 2005 and 2010. Results: Median age of first CRMO symptoms was 11.3 years (range 9-13). The more affected sites were the metaphysis of the long bon...
Using the Juvenile Arthritis Disease Activity Score based on erythrocyte sedime...
Mourão, AF; Santos, MJ; Melo-Gomes, J; Martins, FM; Costa, JA; Ramos, F; Brito, I; Duarte, C; Figueira, R; Figueiredo, G; Furtado, C; Lopes, AOur aims were to evaluate the correlation between Juvenile Arthritis Disease Activity Score 27-joint reduced count (JADAS27) with erythrocyte sedimentation rate (ESR) and JADAS27 with C-reactive protein (CRP) scores and to test the agreement of both scores on classifying each disease activity state. We also aimed at verifying the correlation of the 2 scores across juvenile idiopathic arthritis (JIA) categories ...
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia an...
Thomas, AC; Williams, H; Setó-Salvia, N; Bacchelli, C; Jenkins, D; O'Sullivan, M; Mengrelis, K; Ishida, M; Ocaka, L; Chanudet, E; James, C; Lescai, FIntellectual disability and cerebellar atrophy occur together in a large number of genetic conditions and are frequently associated with microcephaly and/or epilepsy. Here we report the identification of causal mutations in Sorting Nexin 14 (SNX14) found in seven affected individuals from three unrelated consanguineous families who presented with recessively inherited moderate-severe intellectual disability, ce...
Intellectual disability, coarse face, relative macrocephaly, and cerebellar hyp...
Sousa, SB; Ramos, F; Garcia, P; Pais, RP; Paiva, C; Beales, PL; Moore, GE; Saraiva, JM; Hennekam, RCWe report on two Portuguese sisters with a very similar phenotype characterized by severe intellectual disability, absent speech, relative macrocephaly, coarse face, cerebellar hypotrophy, and severe ataxia. Additional common features include increased thickness of the cranial vault, delayed dental eruption, talipes equino-varus, clinodactyly, and camptodactyly of the fifth finger. The older sister has retinal ...
Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with la...
Matoso, E; Ramos, F; Ferrão, J; Pires, LM; Mascarenhas, A; Melo, JB; Carreira, IMWe report a male patient with developmental delay carrying an interstitial 4p16.3 deletion of 287 kb, disclosed by oligo array-CGH and inherited from his father with a similar but milder phenotype. This deletion is distal to the Wolf-Hirschhorn syndrome critical regions, but includes the FGFRL1 gene proposed to be a plausible candidate for part of the craniofacial characteristics of Wolf-Hirschhorn syndrome pat...
Trends in the use of natural antioxidants in active food packaging: a review
Sanches-Silva, A.; Costa, D.; Albuquerque, T.G.; Buonocore, GG; Ramos, F; Castilho, MC; Machado, AV; Costa, H.S.The demand for natural antioxidant active packaging is increasing due to its unquestionable advantages compared with the addition of antioxidants directly to the food. Therefore, the search for antioxidants perceived as natural, namely those that naturally occur in herbs and spices, is a field attracting great interest. In line with this, in the last few years, natural antioxidants such as α-tocopherol, caffeic...
Description of an autosomal dominant form of Kabuki syndrome by mutation in MLL...
Santos, MI; Beleza-Meireles, A; Loureiro, S; Fonseca, M; Reis, CF; Rodrigues, F; Ramos, F; Ramos, L; Cardoso, E; Saraiva, JMAims: Although there are more than 400 cases of Kabuki syndrome described in the literature, it is believed that this syndrome is under-diagnosed. Most cases occur sporadically, despite cases with autosomal dominant familial transmission being described. Here we describe three cases identified in the same family. Cases description: A family (mother and two children) was diagnosed with Kabuki syndrome. The three...