Browsing by Author "Liberal, Rodrigo"
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- Clube Português do Pâncreas Recommendations for Chronic Pancreatitis: Etiology, Natural History, and Diagnosis (Part I)Publication . Rodrigues-Pinto, Eduardo; Caldeira, Ana; Soares, João Bruno; Antunes, Teresa; Carvalho, Joana Rita; Costa-Maia, José; Oliveira, Pedro; Azevedo, Richard; Liberal, Rodrigo; Bouça Machado, Tiago; Pereira, Vitor; Moutinho-Ribeiro, PedroChronic pancreatitis (CP) is a heterogeneous disease, with different causes and often a long delay between onset and full classic presentation. Clinical presentation depends on the stage of the disease. In earlier stages, recurrent episodes of acute pancreatitis are the major signs dominating clinical presentation. As the inflammatory process goes on, less acute episodes occur, and pain adopts different aspects or may even disappear. After 10-15 years from onset, functional insufficiency occurs. Then, a classic presentation with pain and pancreatic exocrine and endocrine insufficiency appears. Diagnosis remains challenging in the early stages of the disease, as its initial presentation is usually ill-defined and overlaps with other digestive disorders. Computed tomography and magnetic resonance cholangiopancreatography should be the first choice in patients with suspected CP. If the results are normal or equivocal but still there is a high suspicion of CP, the next option should be endoscopic ultrasound. Endoscopic retrograde cholangiopancreatography is mainly a therapeutic technique, and for the diagnostic purpose should only be used when all other imaging modalities and pancreatic function tests have been exhausted. Indirect tests are used to quantify the degree of insufficiency in already-established late CP. Recommendations on CP were developed by Clube Português do Pâncreas (CPP), based on literature review to answer predefined topics, subsequently discussed and approved by all members of CPP. Recommendations are separated in two parts: "chronic pancreatitis etiology, natural history, and diagnosis," and "chronic pancreatitis medical, endoscopic, and surgical treatment." This abstract pertains to part I.
- Clube Português do Pâncreas Recommendations for Chronic Pancreatitis: Medical, Endoscopic, and Surgical Treatment (Part II)Publication . Rodrigues-Pinto, Eduardo; Caldeira, Ana; Soares, João Bruno; Antunes, Teresa; Carvalho, Joana Rita; Costa-Maia, José; Oliveira, Pedro; Azevedo, Richard; Liberal, Rodrigo; Bouça Machado, Tiago; Magno-Pereira, Vitor; Moutinho-Ribeiro, PedroChronic pancreatitis (CP) is a complex disease that should be treated by experienced teams of gastroenterologists, radiologists, surgeons, and nutritionists in a multidisciplinary environment. Medical treatment includes lifestyle modification, nutrition, exocrine and endocrine pancreatic insufficiency correction, and pain management. Up to 60% of patients will ultimately require some type of endoscopic or surgical intervention for treatment. However, regardless of the modality, they are often ineffective unless smoking and alcohol cessation is achieved. Surgery retains a major role in the treatment of CP patients with intractable chronic pain or suspected pancreatic mass. For other complications like biliary or gastroduodenal obstruction, pseudocyst drainage can be performed endoscopically. The recommendations for CP were developed by Clube Português do Pâncreas (CPP), based on literature review to answer predefined topics, subsequently discussed and approved by all members of CPP. Recommendations are separated in two parts: "chronic pancreatitis etiology, natural history, and diagnosis," and "chronic pancreatitis medical, endoscopic, and surgical treatment." This abstract pertains to part II.
- Liver Fibrosis and Metabolic Alterations in Adults With alpha-1-antitrypsin Deficiency Caused by the Pi*ZZ MutationPublication . 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 GroupBACKGROUND & 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