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- Dysphagia in a young female patient: it’s not always that simplePublication . Carvão, Joana; Peixoto, Armando; Rios, Elisabete; Macedo, GuilhermeA 42-year- old female patient was referred to our gastroenterology department with a 4-month history of weekly symptoms of dysphagia for solids and liquids. The patient also reported occasional symptoms of food impaction and heartburn. She denied nausea, vomiting, weight loss or a recent change in bowel habits. The patient was not under any medication. Medical or surgical history was unremarkable. There was no family history of gastrointestinal cancer. Physical examination was normal, and laboratory tests did not reveal anaemia or other abnormalities. She underwent an oesophagogastroduodenoscopy, and the oesophagus is shown in figure 1. Biopsies were performed in the upper and lower parts of the oesophagus and the result is shown in figure 2. Macroscopically and histologically, the stomach was normal. On the same day, the patient underwent a high-resolution manometry (HRM) (Medtronic 36-channel solid-state catheter) with 10 supine liquid swallows (5 mL water each) with the following findings (figure 3).
- Hepatosplenic T-Cell Lymphoma: A Rare Complication of Monotherapy with Thiopurines in Crohn’s DiseasePublication . Carvão, Joana; Magno Pereira, Vítor; Jacinto, Fernando; Sousa Andrade, Carla; Jasmins, LuísHepatosplenic T-cell lymphoma (HSTCL) is an extremely rare and aggressive form of non-Hodgkin lymphoma associated with poor response to treatment and high mortality. There is an increased incidence among patients with inflammatory bowel disease, especially young male patients under 35 years old and on combination therapy (thiopurine and anti-TNF-α). We describe a case of HSTCL in a young male patient with stenosing ileal Crohn's disease on azathioprine monotherapy for 4.8 years admitted to our hospital with intra- abdominal sepsis. Despite chemotherapy, the patient eventually died 1 month after the diagnosis. Through a literature review, we identified 18 additional cases of HSTCL in Crohn's disease patients that had only been treated with thiopurine monotherapy. The authors intend to highlight the rarity of this diagnosis especially with azathioprine monotherapy and the diagnostic challenge in a case that presented with intra-abdominal sepsis.
- A Case of Unexplained Cutaneous Lesions, Cholestatic Hepatitis, and Noncirrhotic Portal Hypertension in a Female PatientPublication . Carvão, Joana; Pereira, Vítor Magno; Jasmins, LuísQuestion: A 57-year old woman with a previous history of contrast-related anaphylaxis was referred to the gastroenterology department with worsening liver function tests. She developed recurrent abdominal pain, diarrhea, significant weight loss, pruriginous generalized skin rash, and increased abdominal volume over 1 year. Physical examination revealed generalized small reddish monomorphic macules on the trunk and thighs (Figure A), hepatosplenomegaly, peripheral lymphadenopathy, and ascites. Blood tests showed normocytic normochromic anemia (hemoglobin 9.4 g/dL), monocytosis (1.3 103/mL), thrombocytopenia (97 103/mL), slight international normalized ratio prolongation, and a marked elevation of cholestasis parameters without jaundice (aspartate aminotransferase, 60 U/L; alanine aminotransferase, 56 U/L; gamma-glutamyl transferase, 324 U/L; and alkaline phosphatase, 1277 U/L). Abdominal Doppler ultrasound examination and a computed tomography scan revealed homogeneous hepatosplenomegaly (without signs of chronic liver disease), signs of portal hypertension without thrombosis of the splenoportal axis, moderate ascites, and intra-abdominal, axillary, and inguinal lymphadenopathies. Upper endoscopy showedesophageal varices and portal hypertensive gastropathy.Laboratory studies for chronic hepatopathy, infectious agents, and angiotensin-converting enzyme were negative. Bone marrow biopsy revealed granulomatous myelitis, and both lymphadenopathy and skin biopsies showed increased mononuclear cells.
- Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi∗Z Variant of AAT (Pi∗MZ vs Pi∗ZZ genotype) and NoncarriersPublication . Schneider, Carolin V.; Hamesch, Karim; Gross, Annika; Mandorfer, Mattias; Moeller, Linda S.; Pereira, Vitor; Pons, Monica; Kuca, Pawel; Reichert, Matthias C.; Benini, Federica; Burbaum, Barbara; Voss, Jessica; Gutberlet, Marla; Woditsch, Vivien; Lindhauer, Cecilia; Fromme, Malin; Kümpers, Julia; Bewersdorf, Lisa; Schaefer, Benedikt; Eslam, Mohammed; Bals, Robert; Janciauskiene, Sabina; Carvão, Joana; Neureiter, Daniel; Zhou, Biaohuan; Wöran, Katharina; Bantel, Heike; Geier, Andreas; Dirrichs, Timm; Stickel, Felix; Teumer, Alexander; Verbeek, Jef; Nevens, Frederik; Govaere, Olivier; Krawczyk, Marcin; Roskams, Tania; Haybaeck, Johannes; Lurje, Georg; Chorostowska-Wynimko, Joanna; Genesca, Joan; Reiberger, Thomas; Lammert, Frank; Krag, Aleksander; George, Jacob; Anstee, Quentin M.; Trauner, Michael; Datz, Christian; Gaisa, Nadine T.; Denk, Helmut; Trautwein, Christian; Aigner, Elmar; Strnad, PavelHomozygosity for the Pi∗Z variant of the gene that encodes the alpha-1 antitrypsin peptide (AAT), called the Pi∗ZZ genotype, causes a liver and lung disease called alpha-1 antitrypsin deficiency. Heterozygosity (the Pi∗MZ genotype) is a risk factor for cirrhosis in individuals with liver disease. Up to 4% of Europeans have the Pi∗MZ genotype; we compared features of adults with and without Pi∗MZ genotype among persons without preexisting liver disease.
- Letter to the Editor: Glomerular Filtration Rate Assessment in Liver Disease (GRAIL): Are We There Yet?Publication . Carvão, Joana; Jasmins, Luís
- Esophageal and Gastroduodenal Hemorrhagic Necrosis: A Unique Finding in the Setting of Septic Shock and Vasopressor UsePublication . Carvão, Joana; Faria, Maria Gorete; Magno Pereira, Vitor; Sousa Andrade, Carla; Fernandes, Nicodemos; Nóbrega, José Júlio; Jasmins, LuísEsophageal and gastroduodenal necrosis are rare conditions with poor prognosis. We describe a case that was diagnosed with upper endoscopy in the setting of severe septic shock. To our knowledge, this is the first case in which esophageal and gastroduodenal necrosis occurred simultaneously in this setting. We discuss the pathophysiology, diagnostic approach, and treatment options of this rare entity.