9 documents found, page 1 of 1
Transjugular liver biopsy: the key to a rare etiology of cholestatic hepatitis ...
Pestana, Inês; Pedro, Juliana; Simões, Carolina; Ferreira, Carlos; da Mata, Sara; Claro, IsabelIntroduction: Hematopoietic stem cell transplantation (HSCT) is associated with multiple complications, such as sinusoidal obstruction syndrome (SOS) (hepatomegaly, ascites, jaundice, and thrombocytopenia) and graft-versus-host disease (GVHD) (with the skin, gastrointestinal tract, and liver being the main targets). These entities may present overlapping clinical findings, being considered differential diagnose...
Frequency of CDH1, CTNNA1 and CTNND1 germline variants in families with diffuse...
Guerra, Joana; Pinto, Carla; Pinto, Pedro; Pinheiro, Manuela; Santos, Catarina; Peixoto, Ana; Escudeiro, Carla; Barbosa, Ana; Porto, MiguelHereditary 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 ...
Transmural remission improves clinical outcomes up to 5 years in Crohn's disease
Fernandes, Samuel; Serrazina, Juliana; Botto, Inês Ayala; Leal, Tiago; Guimarães, Andreia; Garcia, Joana Lemos; Rosa, Isadora; Prata, RitaIntroduction: Evidence supporting transmural remission (TR) as a long-term treatment target in Crohn's disease (CD) is still unavailable. Less stringent but more reachable targets such as isolated endoscopic (IER) or radiologic remission (IRR) may also be acceptable options in the long-term. Methods: Multicenter retrospective study including 404 CD patients evaluated by magnetic resonance enterography and colon...
Transmural remission improves clinical outcomes up to 5 years in Crohn's disease
Fernandes, Samuel Raimundo; Serrazina, Juliana; Botto, Inês Ayala; Leal, Tiago; Guimarães, Andreia; Garcia, Joana Lemos; Rosa, Isadora; Prata, RitaIntroductionEvidence supporting transmural remission (TR) as a long-term treatment target in Crohn's disease (CD) is still unavailable. Less stringent but more reachable targets such as isolated endoscopic (IER) or radiologic remission (IRR) may also be acceptable options in the long-term. MethodsMulticenter retrospective study including 404 CD patients evaluated by magnetic resonance enterography and colonosco...
Hyperplastic Polyp? Look Again... The Impact of the New Classification for Serr...
Fidalgo, Catarina; Santos, Liliana; Rosa, Isadora; Fonseca, Ricardo; Lage, Pedro; Claro, Isabel; Chaves, Paula; Dias Pereira, AntónioIntroduction: The World Health Organization reviewed the classification for serrated colonic polyps in 2010. A new entity, sessile serrated adenoma, was included with two variants: with and without cytological dysplasia. This lesion’s malignant potential has been recognized and according to the new classification, many polyps may be reclassified. The impact of this change is yet to be assessed.Objective: Analyz...
A Gastrenterologia e os Tumores Neuroendócrinos Digestivos
Claro, IsabelOs tumores neuroendócrinos (TNE) digestivos ou gastro-entero-pancreáticos, são entidades raras. Contudo, a sua incidência tem vindo a aumentar de forma significativa nas últimas décadas1,2. Adicionalmente, o desenvolvimento de novas tecnologias como a enteroscopia por cápsula e por duplo balão, bem como a maior acessibilidade aos meios complementares de diagnóstico, endoscópicos e imagiológicos, poderá contribu...
Familial colorectal cancer type X: clinical, pathological and molecular charact...
Ferreira, Sara; Lage, Pedro; Sousa, Rita; Claro, Isabel; Francisco, Inês; Filipe, Bruno; Suspiro, Alexandra; Chaves, Paula; Rodrigues, PaulaSome families fulfilling the Amsterdam Criteria (AC) differ from the Lynch syndrome (LS) in that colorectal cancers (CRC) do not present microsatellite instability (MSI) and DNA mismatch repair gene mutations are not found. These families have been designated as Familial Colorectal Cancer type X (XS) and their genetic basis remains unknown.In families fulfilling AC for LS: 1) To perform MSI testing in CRC and t...
Dysphagia and dysarthria: unusual presentation of Myasthenia Gravis.
Ferreira, Sara; Lage, Pedro; Claro, Isabel; Alcântara, João; Nunes, João; Nobre Leitão, CMyasthenia Gravis is an autoimmune disorder that generally presents with ocular symptoms, specially diplopia and ptosis. Dysphagia may be a manifestation of the generalised type of the disease, but rarely is its presenting feature. The authors describe a case of Myasthenia Gravis in an old patient complaining of dysphagia and dysarthria. Because Myasthenia Gravis is a potentially serious but treatable disease, ...
Need of new clinical criteria for the identification of genetic Lynch syndrome.
Sousa, Rita; Lage, Pedro; Ferreira, Sara; Claro, Isabel; Francisco, Inês; Filipe, Bruno; Albuquerque, Cristina; Suspiro, Alexandra; Rodrigues, PaulaSurveillance programs in families with Hereditary Non-Polyposis Colorectal Cancer (HNPCC), which is an autossomal dominant disease, decrease colorectal carcinoma mortality. There are multiple clinical criteria for the identification of these families, mainly: the Amsterdam Criteria (ACI), the modified Amsterdam Criteria (ACII) and the Bethesda Guidelines (BG).To correlate, in families with HNPCC, the clinical c...