Percorrer por autor "Peixoto, Ana"
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- Combined germline and tumor mutation signature testing identifies new families with NTHL1 tumor syndromePublication . Pinto, Carla; Guerra, Joana; Pinheiro, Manuela; Escudeiro, Carla; Santos, Catarina; Pinto, Pedro; Porto, Miguel; Bartosch, Carla; Silva, João; Peixoto, Ana; Teixeira, Manuel R.NTHL1 tumor syndrome is an autosomal recessive rare disease caused by biallelic inactivating variants in the NTHL1 gene and which presents a broad tumor spectrum. To contribute to the characterization of the phenotype of this syndrome, we studied 467 index patients by KASP assay or next-generation sequencing, including 228 patients with colorectal polyposis and 239 patients with familial/personal history of multiple tumors (excluding multiple breast/ovarian/polyposis). Three NTHL1 tumor syndrome families were identified in the group of patients with polyposis and none in patients with familial/personal history of multiple tumors. Altogether, we identified nine affected patients with polyposis (two of them diagnosed after initiating colorectal cancer surveillance) with biallelic pathogenic or likely pathogenic NTHL1 variants, as well as two index patients with one pathogenic or likely pathogenic NTHL1 variant in concomitance with a missense variant of uncertain significance. Here we identified a novel inframe deletion classified as likely pathogenic using the ACMG criteria, supported also by tumor mutational signature analysis. Our findings indicate that the NTHL1 tumor syndrome is a multi-tumor syndrome strongly associated with polyposis and not with multiple tumors without polyposis.
- Communication impact in health outcomes in the intensive care unit: A systematic reviewPublication . Mendes, Joana; Peixoto, AnaAs a direct result of critical illness and its management ICU patients and their caregivers are vulnerable to communication breakdowns and adverse events which is usually perceived as a source of frustration to both medical staff and patients. As a vital part of high quality care, the physician-patient relationship is critically important to patient outcomes.
- Dar voz a quem não fala: estudo de casoPublication . Alves, Catarina; Peixoto, AnaA Comunicação Aumentativa e Alternativa é uma área em evolução e ouvir os testemunhos dos seus utilizadores é fundamental (Beukelman & Light, 2020), para corrigir erros de práticas passadas e incrementar o uso de estratégias bem-sucedidas, no futuro. O estudo teve como objetivo analisar, através dos testemunhos, a experiência comunicativa e o processo de reabilitação dos utilizadores de Comunicação Aumentativa e Alternativa.
- Doente impossibilitado de falarPublication . Peixoto, AnaEste capítulo procura apoiar os profissional de saúde na comunicação com adultos cujas condições clínicas dificultam ou impedem a comunicação verbal. Embora não substitua o trabalho em equipa, pretende apetrechar os profissionais de saúde com alguns procedimentos e estratégias básicas que podem ter uma interferência positiva no processo comunicativo, especialmente desde o primeiro contacto. Para a maioria das pessoas com uma afeção grave da linguagem e da fala, o sucesso comunicativo depende sobretudo da capacidade do interlocutor se adaptar a ela.
- Frequency of CDH1, CTNNA1 and CTNND1 germline variants in families with diffuse and mixed gastric cancerPublication . Guerra, Joana; Pinto, Carla; Pinto, Pedro; Pinheiro, Manuela; Santos, Catarina; Peixoto, Ana; Escudeiro, Carla; Barbosa, Ana; Porto, Miguel; Francisco, Inês; Lopes, Paula; Isidoro, Ana Raquel; Cunha, Ana Luísa; Albuquerque, Cristina; Claro, Isabel; Oliveira, Carla; Silva, João; Teixeira, Manuel R.Hereditary diffuse gastric cancer (HDGC) is caused by germline pathogenic variants in the CDH1 and CTNNA1 genes and is characterized by a high prevalence of diffuse gastric cancer and lobular breast cancer. We aimed to evaluate the contribution of CTNNA1 and CTNND1 germline variants to HDGC, as well as to compare the frequencies of CDH1 and CTNNA1 (and eventually CTNND1) germline variants between patients with diffuse and mixed gastric carcinomas. In this study, we report a deleterious CTNNA1 germline variant and four CDH1 pathogenic variants in patients with criteria for genetic testing. None of the cases with mixed gastric cancer carried pathogenic variants in either the CDH1 or the CTNNA1 genes, so there is no evidence to use this tumor type in testing criteria.
- A intervenção do terapeuta da fala em meio aquáticoPublication . Neves, Rafaela; Peixoto, Ana; Alegria, RitaA Terapia da Fala em meio aquático é uma prática recentemente realizada nos Estados Unidos da América e em alguns países da Europa, sendo que na atualidade estão a ser realizados os primeiros estudos sobre esta temática. É com base nas propriedades físicas e sensoriais da água, que estes profissionais atuam sobre aspetos físicos (voz; motricidade orofacial), bem como psicossociais (comunicação).
- A novel deleterious variant and a founder effect in four new families of MBD4-Associated Neoplasia Syndrome recruited over a period of 20 YearsPublication . Querido, Inês; Pinto, Carla; Arinto, Patrícia; Brandão, Andreia; Santos, Catarina; Pinheiro, Manuela; Guerra, Joana; Silva, João; Peixoto, Ana; Teixeira, Manuel R.; Pinto, CarlaDNA glycosylases play a crucial role in DNA repair mediated by the base excision repair (BER) pathway, and alterations in these enzymes have been associated with hereditary cancer predisposition. Recently, germline biallelic loss-of-function variants in MBD4 were shown to be responsible for a novel autosomal recessive multi-tumor predisposition syndrome, provisionally denominated as MBD4-associated neoplasia syndrome and characterized by the association of adenomatous polyposis, colorectal cancer, and acute myeloid leukemia (AML). Here, we studied the MBD4 gene in five individuals from four families affected by adenomatous polyposis and AML, who had been referred for genetic counselling at a single institution over a period of approximately 20 years. All patients with this phenotype presented homozygous deleterious germline variants in MBD4, of which one is a founder variant recurrent in three of the families, and another variant has not been previously described in the literature. Our work allowed a molecular diagnosis for these families and significantly contributes to expanding the knowledge about this emerging syndrome caused by MBD4 constitutional deficiency.
- Nurses and Speech Therapist in Continuing Care Units: the relevance of working together with patients who have communication deficitPublication . Duarte, Diana; Peixoto, AnaThe difficulty of oral expression through verbal communication is a characteristic of patients admitted in the Continuing Care Units. In these situations the physical needs are mainly ensured by nurses. However communicative difficulties are not always considered essential to meet their needs or comfort. Studies carried out in the communication area describe the communicative process within the institutions as unidirectional, mostly controlled by caregivers and centralized in healthcare, which may be a consequence of little knowledge about the communication disorders. This literature review aims to understand the current communication difficulties among the nurses working in Continuing Care and patients with communication difficulties and define the relevance of the intervention of the Speech Therapist.