Abstract A 51-year-old woman, clinically diagnosed with Xeroderma pigmentosum (XP), showed abnormalities in liver enzymes, high ferritin and transferrin saturation levels, with ultrasonographic features of chronic liver disease, in addition to skin hyperpigmentation. Genetic testing confirmed the clinical hypothesis of hereditary hemochromatosis (HH). Due to the known proximity of HFE (6p22.2) and POLH (6p21.1)...
Resumo: Introdução: A população de doentes com hemofilia (DCH) representa uma população com alta prevalência de infeção pelo vírus da hepatite C (VHC), atendendo à utilização passada de derivados sanguíneos contaminados. Apesar de os objetivos terapêuticos nesta população serem semelhantes aos da população geral, estudos de vida real com follow-up de longa data são ainda escassos. O nosso objetivo consistiu em ...
Abstract: Background and Aims: The impact of SARS-CoV-2 infection on the liver and the possibility of chronic liver disease (CLD) as a risk factor for COVID-19 severity is not fully understood. Our goal was to describe clinical outcomes of COVID-19 inpatients regarding the presence of abnormal liver tests and CLD. Methods: A retrospective analysis of patients with SARS-CoV-2 infection, hospitalized in a tertiar...
Abstract: Introduction: Non-variceal upper gastrointestinal bleeding (NVUGIB) is an important healthcare problem whose epidemiology and outcomes have been changing throughout the years. The main goal of this study was to characterize the current demographics, etiologies, and risk factors of NVUGIB. Methods: Analysis of clinical, endoscopic, and outcome data from patients who were admitted for NVUGIB between Jan...
Background: Direct-acting antivirals (DAA) have revolutionized hepatitis C treatment, with high sustained virological response (SVR) rates reported, even in historically difficult-to-treat groups. SVR is associated with a decreased risk of hepatocellular carcinoma (HCC), need for transplantation, and overall and liver-related mortality. Data from real-life cohorts on the medium- to long-term outcomes of patient...
Irritable bowel syndrome (IBS) is a functional gastrointestinal (GI) disorder, which can affect all members of a society, regardless of age, sex, race or socioeconomic status. Because of its high prevalence and chronic nature, it represents a significant economic burden. In fact, these patients have a relevant impairment of their quality of life, which limits their work productivity and daily social activities,...
Background: Rectal varices are portosystemic collaterals that arise as a complication of portal hypertension. Despite their significant prevalence among cirrhotic patients, clinically important bleeding occurs only in a minority. Various treatment options are available, with endoscopic therapies being widely used, and both interventional radiology and surgery being considered for refractory bleeding rectal vari...