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Browsing by Author "Monteiro, M"

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  • MÓDULO 2 - Reanimação, acessos vasculares e outras intervenções emergentes: 3º CURSO DE FORMAÇÃO PARA INTERNOS 2015 - 2016
    Publication . Bento, C; Rodrigues, F; Oliveira, G; Lopes, MF; Brito, MJ; Paiva, G; Santos, L; Conceição, V; Cardoso, P; Balacó, I; Maricato, F; Monteiro, M; Castela, G; Coelho, D; Lopes, C; Paiva, D
    2018Book Open access Show more
  • MÓDULO 4 - Cirurgia, Anestesiologia, Ortopedia, Neurocirurgia, Oftalmologia e ORL
    Publication . Brito, C; Rodrigues, F; Oliveira, G; Lopes, MF; Brito, MJ; Ribeiro, P; Neves, S; Cunha, C; Horta, P; Seabra, J; Conceição, V; Paiva, C; Monteiro, M; Silva, L
    2012Book Open access Show more
  • Multicentric Genome-Wide Association Study for Primary Spontaneous Pneumothorax
    Publication . Sousa, I; Abrantes, P; Francisco, V; Teixeira, G; Monteiro, M; Neves, J; Norte, A; Robalo-Cordeiro, C; Moura E Sá, J; Reis, E; Santos, P; Oliveira, M; Sousa, S; Fradinho, M; Malheiro, F; Negrão, L; Feijó, S; Oliveira, SA
    Despite elevated incidence and recurrence rates for Primary Spontaneous Pneumothorax (PSP), little is known about its etiology, and the genetics of idiopathic PSP remains unexplored. To identify genetic variants contributing to sporadic PSP risk, we conducted the first PSP genome-wide association study. Two replicate pools of 92 Portuguese PSP cases and of 129 age- and sex-matched controls were allelotyped in triplicate on the Affymetrix Human SNP Array 6.0 arrays. Markers passing quality control were ranked by relative allele score difference between cases and controls (|RASdiff|), by a novel cluster method and by a combined Z-test. 101 single nucleotide polymorphisms (SNPs) were selected using these three approaches for technical validation by individual genotyping in the discovery dataset. 87 out of 94 successfully tested SNPs were nominally associated in the discovery dataset. Replication of the 87 technically validated SNPs was then carried out in an independent replication dataset of 100 Portuguese cases and 425 controls. The intergenic rs4733649 SNP in chromosome 8 (between LINC00824 and LINC00977) was associated with PSP in the discovery (P = 4.07E-03, ORC[95% CI] = 1.88[1.22-2.89]), replication (P = 1.50E-02, ORC[95% CI] = 1.50[1.08-2.09]) and combined datasets (P = 8.61E-05, ORC[95% CI] = 1.65[1.29-2.13]). This study identified for the first time one genetic risk factor for sporadic PSP, but future studies are warranted to further confirm this finding in other populations and uncover its functional role in PSP pathogenesis.
    2016Journal article Open access Show more
  • PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency
    Publication . Lemos, MC; Gomes, L; Bastos, M; Leite, V; Limbert, E; Carvalho, D; Bacelar, C; Monteiro, M; Fonseca, F; Agapito, A; Castro, JJ; Regateiro, FJ; Carvalheiro, M
    OBJECTIVE: Mutations of the PROP1 gene lead to combined pituitary hormone deficiency (CPHD), which is characterized by a deficiency of GH, TSH, LH/FSH, PRL and, less frequently, ACTH. This study was undertaken to investigate the molecular defect in a cohort of patients with CPHD. DESIGN, PATIENTS AND MEASUREMENTS: A multicentric study involving 46 cases of CPHD (17 familial cases belonging to seven kindreds and 29 sporadic cases) selected on the basis of clinical and hormonal evidence of GH deficiency, central hypothyroidism and hypogonadotrophic hypogonadism, in the absence of an identified cause of hypopituitarism. Mutations of PROP1 were investigated by DNA sequencing. Clinical, hormonal and neuroradiological data were collected at each centre. RESULTS: PROP1 mutations were identified in all familial cases: five kindreds presented a c. 301-302delAG mutation, one kindred presented a c. 358C --> T (R120C) mutation and one presented a previously unreported initiation codon mutation, c. 2T --> C. Of the 29 sporadic cases, only two (6.9%) presented PROP1 germline mutations (c. 301-302delAG, in both). Phenotypic variability was observed among patients with the same mutations, particularly the presence and age of onset of hypocortisolism, the levels of PRL and the results of pituitary imaging. One patient presented a sellar mass that persisted into adulthood. CONCLUSIONS: This is the first report of a mutation in the initiation codon of the PROP1 gene and this further expands the spectrum of known mutations responsible for CPHD. The low mutation frequency observed in sporadic cases may be due to the involvement of other unidentified acquired or genetic causes
    2006Journal article Open access Show more
  • Retinopatia da Prematuridade numa Unidade de Cuidados Intensivos Neonatais: Experiência de Oito Anos
    Publication . Moinho, R; Morais, S; Monteiro, M; Mimoso, G
    Introdução: A retinopatia da prematuridade ocorre por inadequada vascularização da retina dos recém-nascidos prematuros. É uma doença multifatorial, com risco inversamente proporcional à idade gestacional e ao peso de nascimento. Objetivos: Caracterizar uma amostra de prematuros com critérios de observação oftalmológica e identificar os principais fatores de risco de retinopatia da prematuridade. Métodos: Estudo descritivo de análise retrospetiva. Consulta dos processos dos prematuros internados de 2005 a 2012 com critérios de observação oftalmológica e colheita de dados demográficos, fatores de risco, observação oftalmológica, estadio da retinopatia e tratamento. Análise estatística: SPSS®v21, significância: p<0,05. Resultados: Obtiveram-se 343 prematuros, 54% do sexo masculino. A incidência de retinopatia foi 15,5%, grave em 2,6%. O grupo com retinopatia teve média de idade gestacional de 27,5±1,9 semanas e peso de nascimento de 937±264 gramas e o grupo sem retinopatia teve, respetivamente, 29,8±1,9 semanas e 1216 ± 277 gramas (p<0,001). Os fatores com diferença entre os dois grupos foram: oxigenoterapia (p<0,001), ventilação invasiva (p=0,003) e sua duração (p<0,001), surfactante (p<0,001), dificuldade respiratória (p<0,001), sépsis tardia (p=0,019), persistência do canal arterial (p<0,001) e seu tratamento médico (p<0,001). A regressão logística mostrou que a idade gestacional é o fator de risco com maior repercussão na ocorrência de retinopatia (OR:0,542). O grau máximo de retinopatia foi 3 com doença plus, tendo 8 prematuros sido submetidos a cirurgia. Discussão e conclusão: A incidência de retinopatia foi inferior a outros estudos. Confirma-se a importância de alguns fatores de risco, sendo a idade gestacional o fator mais determinante.
    2015Journal article Open access Show more