Search results for "hepatology"
showing 10 items of 2737 documents
Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.
2011
Abetalipoproteinemia (ABL), or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia retinitis pigmentosa, progressive neuropathy and acanthocytosis from early infancy. We describe the clinical and molecular characterization of a 6-month-old infant born of consanguineous, apparently healthy parents from Iran. The patient was hospitalized because of failure to thrive, greasy stool and vomiting. The patient's serum lipid profile, the clinical phenotype and the duodenal histology suggested the clinical diagnosis of ABL. The MTP gene analysis by direct sequencing revealed a novel homozygous mutation (…
Carl Toldt Centennial, Surgeon and Anatomist
2021
Carl Florian Toldt was an Austrian anatomist who made meaningful contributions worldwide and defined what is one of the most important surgical landmarks in abdominal surgery. Through his research studies, the embryologic dissection plane known as the “White Line of Toldt” represents an important anatomical landmark that helps to mobilize either the ascending or descending colon. His career spanned over 45 years, beginning in Verona and continuing to Prague and Vienna. He was an author of several innovative books and scientific articles regarding micro- and macroscopic anatomy. In addition, he received numerous recognitions and prizes for his work, making him an essential figure in the med…
Methylenetetrahydrofolate reductase homozygosis and low-density lipoproteins in patients with genotype 1 chronic hepatitis C
2011
Summary. Methylenetetrahydrofolate reductase status, homocysteine and lipoproteins levels have been associated with severity of disease and both rapid and sustained virological response (SVR) in patients with genotype 1 chronic hepatitis C (CHC). We aimed to assess the association of homocysteine and MTHFR status with serum cholesterol levels and their potential links to both histological findings and virological response, in patients with genotype 1 hepatitis C virus (HCV). A total of 119 consecutive patients were evaluated by biopsy and metabolic measurements. A total of 103 healthy blood donors were used as controls. Serum homocysteine and MTHFR C677T mutation were also evaluated. All p…
Genetic variants in the MTHFR are not associated with fatty liver disease.
2020
The common missense sequence variants of methylenetetrahydrofolate reductase (MTHFR), rs1801131 (c.A1298C) and rs1801133 (c.C677T), favour the development of hyperhomocysteinemia and diminished DNA methylation. Previous studies, carried out in small series and with suboptimal characterization of the hepatic phenotype, tested the association of these genetic variants with fatty liver disease (FLD), with conflicting results. Here, we assessed the association of rs1801131 and rs1801133 with hepatic phenotype in the Liver Biopsy Cross-Sectional Cohort, a large cohort (n=1375 from Italy and 411 from Finland) of European individuals with suspect FLD associated with dysmetabolism. A total of 1786 …
Use of corticosteroids and immunosuppressive drugs in inflammatory bowel disease: Clinical practice guidelines of the Italian Group for the Study of …
2017
Abstract The two main forms of intestinal bowel disease, namely ulcerative colitis and Crohn’s disease, are not curable but can be controlled by various medical therapies. The Italian Group for the Study of Inflammatory Bowel Disease (IG-IBD) has prepared clinical practice guidelines to help physicians prescribe corticosteroids and immunosuppressive drugs for these patients. The guidelines consider therapies that induce remission in patients with active disease as well as treatment regimens that maintain remission. These guidelines complement already existing guidelines from IG-IBD on the use of biological drugs in patients with inflammatory bowel diseases.
Percutaneous Tibial Nerve Stimulation for Treatment of Idiopathic Faecal Incontinence: Mid-term Results from a Single Center
2016
Abstract Objective: Percutaneous tibial nerve stimulation is a recent and minimally invasive treatment for faecal incontinence (FI). The aim of this study is to evaluate the mid-term results in patients with idiopathic faecal incontinence (IFI). Methods: Fifty one patients (42 female and 9 male) were prospectively recruited. Patients were treated twice a week for 6 weeks as per study protocol. We have assessed the degree of fecal incontinence using the Cleveland Clinic faecal incontinence (CCF-FI) score at baseline, at 6 weeks, at 6 months and at 1 year. Also the anorectal manometric data (mean resting pressure (MRP), squeeze pressure (SP) and, rectal sensation) at baseline, at 6 weeks and …
Calprotectin and spondyloarthritis
2017
Perioperative chemotherapy versus surgery alone for resectable colorectal liver metastases: an international multicentre propensity score matched ana…
2021
Abstract Background There is still uncertainty regarding the role of perioperative chemotherapy (CTx) in patients with resectable colorectal liver metastases (CRLM), especially in those with a low-risk of recurrence. Methods Multicentre retrospective analysis of patients with CRLM undergoing liver resection between 2010–2015. Patients were divided into two groups according to whether they received perioperative CTx or not and were compared using propensity score matching (PSM) analysis. Then, they were stratified according to prognostic risk scores, including: Clinical Risk Score (CRS), Tumour Burden Score (TBS) and Genetic And Morphological Evaluation (GAME) score. Results The study includ…
Clinical implications of mucosal healing in the management of patients with inflammatory bowel disease
2013
AbstractThe natural history of Crohn's Disease and ulcerative colitis is characterized by repeated episodes of inflammation and ulceration of the bowel. This results in complications implying a worse quality of life and significant healthcare costs, due to hospitalization, surgery and an escalation of therapy.The main goal of the therapy in inflammatory bowel disease is to achieve and maintain disease remission, with an improved health-related quality of life, less hospitalization, and less surgery. The concept of remission has changed in the recent years. In fact the concept of clinical remission, where only the patients’ symptoms are in remission, has been replaced by the new concept of d…
Computed tomography of bowel obstruction: Tricks of the trade
2015
Bowel obstruction (BO) is a frequent cause of hospitalization and surgical consultation for acute abdominal pain. It is usually suspected at physical examination, but clinical and laboratory data are often nonspecific. Thus, computed tomography plays a crucial role in a correct diagnosis of BO. Indeed, computed tomography can confirm a diagnosis of BO, and identify the location and cause of the obstruction. In this review, the computed tomography appearances of common and uncommon causes of BO and pseudo-obstruction are reviewed.