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  • Role of alpha-1 antitrypsin genotypes in the progression of adult liver disease
    Publication . Pereira, Vítor Magno; Gaspar, R; Simões, C; Maia, L.; Costa, C; Carvão, J; Oliveira, G; Serrão, G; Jesus, V; Sucena, M.C; Santos, C; Gomes, J; Lages, J; Abreu S, I; Freitas, S; Carvalhana, S; Mandorfer, M; Cortez-Pinto, H; Macedo, C; Trauner, M; Liberal, R; Jasmins, L.
  • Demystifying endoscopic retrograde cholangiopancreatography (ERCP)
    Publication . Magno Pereira, Vítor; Moutinho-Ribeiro, Pedro; Macedo, Guilherme
    Background: For many years, ERCP was avoided in pregnancy given the concerns regarding the adverse effects that, with special focus on radiation, could occur in the developing fetus. However, the postponement or rejection of ERCP in pregnant women, may lead to a higher risk for mother and fetus, especially when the indication is unequivocal, namely cholangitis, biliary pancreatitis and symptomatic choledocholithiasis. Summary and key messages: This review aims to summarize the scarce literature on the subject in order to plan ERCP in pregnancy with the highest safety. The use of techniques that reduce radiation and increase the protection of pregnant women allow radiation levels far below the safety limits. We also discuss the various alternatives of ERCP without radiation. EUS can eliminate the need for ERCP with doubtful choledocholithiasis and plan the best approach in those with previous evidence. The possibility of performing “ERCP” with a linear echoendoscope uniquely under ultrasound control has been described. Conversely, the two-step strategy (initial sphincterotomy with stent placement without fluoroscopy and after delivery, ERCP with lithiasis extraction) proved to be safe obviating fluoroscopy. In conclusion, ERCP can be performed in pregnancy safely and effectively with minimal radiation or even no-radiation at all.
  • Acute Pancreatitis and Posterior Reversible Encephalopathy Syndrome: A Case Report
    Publication . Pereira, Vítor Magno; Correia, Luís Marote; Rodrigues, Tiago; Faria, Gorete Serrão
    The posterior reversible encephalopathy syndrome is a neurological syndrome characterized by headache, confusion, visual disturbances and seizures associated with identifiable areas of cerebral edema on imaging studies. The authors report the case of a man, 33 years-old, leukodermic with a history of chronic alcohol and tobacco consumption, who is admitted to the emergency department for epigastric pain radiating to the back and vomiting with about six hours of evolution and an intense holocranial headache for two hours. His physical examination was remarkable for a blood pressure of 190/100 mmHg and tenderness in epigastrium. His analytical results revealed emphasis on amylase 193 U/L and lipase 934 U/L. During the observation in the emergency department, he presented a generalized tonic-clonic seizure. Abdominal ultrasonography was performed and suggestive of pancreatitis without gallstones signals. Head computed tomography showed subarachnoid haemorrhage and a small right frontal cortical haemorrhage. The brain magnetic resonance imaging done one week after admission showed areas of a bilateral and symmetrical T2 / FLAIR hyperintensities in the subcortical white matter of the parietal and superior frontal regions, suggesting a diagnosis of posterior reversible encephalopathy syndrome. Abdominal computed tomography (10 days after admission) demonstrated a thickened pancreas in connection with inflammation and two small hypodense foci in the anterior part of the pancreas body, translating small foci of necrosis. The investigation of a thrombophilic defect revealed a heterozygous G20210A prothrombin gene mutation. The patient was discharged without neurological sequelae and asymptomatic. The follow-up brain magnetic resonance imaging confirmed the reversal of the lesions, confirming the diagnosis.
  • A Case of Unexplained Cutaneous Lesions, Cholestatic Hepatitis, and Noncirrhotic Portal Hypertension in a Female Patient
    Publication . Carvão, Joana; Pereira, Vítor Magno; Jasmins, Luís
    Question: 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.
  • Rectovaginal Septum Nodule: The Key for an Unexpected Diagnosis
    Publication . Silva, Marco; Moutinho-Ribeiro, Pedro; Magno-Pereira, Vítor; Vilas-Boas, Filipe; Macedo, Guilherme
  • Risk Predictive Values of ACG Classification in a Cohort of Colon Ischemia: Redefining the Definition of Mild disease
    Publication . Pereira, Vítor Magno; Simões, Carolina; Silva, Marco; Carvão, Joana; Oliveira, António
    Introduction: Although most cases of colon ischemia (CI) are mild and self-limiting, when severe it implies high mortality rates. We aimed to evaluate the risk predictive value of the classi!cation proposed by American College of Gastroenterology (ACG) guidelines (2015), created to provide a management algorithm.
  • Portal Cavernoma Cholangiopathy Secondary to Polycythemia Vera: Case Report and Echoendoscopic Findings
    Publication . Pereira, Vítor Magno; Costa-Moreira, Pedro; Moutinho-Ribeiro, Pedro; Macedo, Guilherme
  • Plano de eliminação da Hepatite C da RAM
    Publication . Pereira, Vítor Magno
    conhecimento de saúde e sensibilização para a problemática ... número de rastreios e diagnósticos ... referenciação para as consultas de especialidade hospitalar ... número de tratamentos ativos ... prevenção de descompensação da doença hepática crónica, CHC e mortalidade ... prevenção de novas infeções e reinfeções
  • Infliximab-Induced Lupus: A Case Report
    Publication . Pereira, Vítor Magno; Andrade, Carla; Figueira, Ricardo; Faria, Goreti; Jasmins, Luís
    We report the case of a 48-year-old, leukodermic female diagnosed with ulcerative proctitis for 4 years and latent tuberculosis. She was allergic to salicylates and had a minor allergic reaction to infliximab (rash, vertigo, and headache). Thereafter, she started azathioprine (2.5 mg/kg/day). She maintained intravenous infliximab, together with prophylaxis with clemastine and hydrocortisone, due to the steroid-dependent proctitis. The therapy was continued every 8 weeks with anti-tumor necrosis factor for about 3 years. The analytical evaluation when she was diagnosed with ulcerative proctitis (February 2011) showed negative antinuclear antibodies (ANA), double-stranded-DNA antibodies (anti-dsDNA), antineutrophil cytoplasmic antibodies and anti-Saccharomyces cerevisiae antibodies, and a positive outer membrane protein antibody. About 2 years and 6 months after starting infliximab (November 2013), the patient complained of inflammatory symmetrical polyarthralgia (knee, shoulder, elbow, and wrist) without synovitis, which started every week before the administration of infliximab. Resolution of symptoms was observed after each infliximab infusion. In July 2014, the autoantibody re-evaluation showed positive ANA with a homogeneous pattern with a titer of 1:640, weak positive anti-dsDNA (30.2), and positive anti-histone with C3 decreased (80.3). She was then diagnosed with lupus induced by infliximab and initiated hydroxychloroquine 400 mg. Infliximab was suspended. On re-evaluation, the erythrocyte sedimentation rate was 25 mm/h (1st hour), C-reactive protein 0.5 mg/dL (previously erythrocyte sedimentation rate 15 mm/h and C-reactive protein 1.2 mg/dL), and endoscopically, the mucosa was scarred, with some atrophy and scarce mucus in the lower rectum. About 10 months after discontinuation of infliximab, repeated autoantibodies proved all negative, keeping only low C3 (87). The patient also reported complete resolution of the arthralgia.
  • Liver Fibrosis and Metabolic Alterations in Adults With alpha-1-antitrypsin Deficiency Caused by the Pi*ZZ Mutation
    Publication . Hamesch, Karim; Mandorfer, Mattias; Pereira, Vítor Magno; Moeller, Linda S.; Pons, Monica; Dolman, Grace E.; Reichert, Matthias C.; Schneider, Carolin V.; Woditsch, Vivien; Voss, Jessica; Lindhauer, Cecilia; Fromme, Malin; Spivak, Igor; Zoller, Heinz; Aigner, Elmar; Reiberger, Thomas; Wetzel, Martin; Siegmund, Britta; Simões, Carolina; Gaspar, Rui; Maia, Luís; Costa, Dalila; Bento-Miranda, Mário; van Helden, Josef; Yagmur, Eray; Bzdok, Danilo; Stolk, Jan; Gleiber, Wolfgang; Knipel, Verena; Windisch, Wolfram; Mahadeva, Ravi; Bals, Robert; Koczulla, Rembert; Barrecheguren, Miriam; Miravitlles, Marc; Janciauskiene, Sabina; Stickel, Felix; Lammert, Frank; Liberal, Rodrigo; Trautwein, Christian; Strnad, Pavel; European Alpha1-Liver Study Group
    BACKGROUND & AIMS: Alpha-1 antitrypsin deficiency (AATD) is among the most common genetic disorders. Severe AATD is caused by a homozygous mutation in the SERPINA1 gene that encodes the Glu342Lys substitution (called the Pi*Z mutation, Pi*ZZ genotype). Pi*ZZ carriers may develop lung and liver diseases. Mutation- associated lung disorders have been well studied, but less is known about the effects in liver. We assessed the liver disease burden and associated features in adults with this form of AATD. METHODS: We collected data from 554 Pi*ZZ adults (403 in an exploratory cohort, 151 in a confirmatory cohort), in 9 European countries, with AATD who were homozygous for the Pi*Z mutation, and 234 adults without the Pi*Z mutation (controls), all without pre-existing liver disease. We collected data on demographic parameters, comorbidities, lung- and liver-related health, and blood samples for laboratory analysis. Liver fibrosis was assessed non-invasively via the serum tests Aspartate Aminotransferase to Platelet Ratio Index and HepaScore and via transient elastography. Liver steatosis was determined via transient elastography-based controlled attenuation parameter. We performed histologic analyses of livers from transgenic mice that overexpress the AATD-associated Pi*Z variant. RESULTS: Serum levels of liver enzymes were significantly higher in Pi*ZZ carriers vs controls. Based on non-invasive tests for liver fibrosis, significant fibrosis was suspected in 20%–36% of Pi*ZZ carriers, whereas signs of advanced fibrosis were 9- to 20-fold more common in Pi*ZZ carriers compared to non-carriers. Male sex; age older than 50 years; increased levels of alanine aminotransferase, aspartate aminotransferase, or g-glutamyl transferase; and low numbers of platelets were associated with higher liver fibrosis burden. We did not find evidence for a relationship between lung function and liver fibrosis. Controlled attenuation parameter 280 dB/m, suggesting severe steatosis, was detected in 39% of Pi*ZZ carriers vs 31% of controls. Carriers of Pi*ZZ had lower serum concentrations of triglyceride and low- and very-lowdensity lipoprotein cholesterol than controls, suggesting impaired hepatic secretion of lipid. Livers from Pi*Zoverexpressing mice had steatosis and down-regulation of genes involved in lipid secretion. CONCLUSIONS: In studies of AATD adults with the Pi*ZZ mutation, and of Pi*Z-overexpressing mice, we found evidence of liver steatosis