Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilson's disease.

The authors report a 44-year-old man with a history of attention deficit and hyperactivity disorder, obsessive compulsive behaviour, vocal tics, depression, and anxiety, in whom a compound heterozygous ATP7B mutation was found, associated with hypoceruloplasminemia, but without clinical or pathological manifestation of Wilson's disease (WD). Genetic testing revealed a compound heterozygous ATP7B mutation already described in WD, p.Met645Arg (C1934TG/c.

Performance of computed tomographic colonography for the screening of colorectal polyp in acromegalic patients: a prospective study.

Context: Acromegalic patients have better chances to develop colorectal polyps and cancer and, considered a high-risk group, need to undergo frequent screening examinations. Moreover, in acromegalia, the increased bowel length and the intestinal loop complexity can lead to higher levels of technical difficulties and increase the risks of complications at conventional colonoscopy. Computed tomographic colonography, also known as virtual colonoscopy, is an innovative and secure technology which is revolutionizing the diagnosis of colon and rectum neoplasias.

[Correlation of Doppler ultrasound of the portal system with endoscopic changes caused by portal hypertension in cirrhotic patients].

Background: The portal hypertension in cirrhotic patients is the main cause of this illness complication, that are clinically translated to visible collateral circulation in the abdominal wall, ascites and esophageal varices.

Aim: To evaluate if the portal system echodoppler is able to estimate the presence of esophageal varices, gastric varices and congestive gastropathy in patients with hepatic cirrhosis.

Patients And Methods: One hundred and eighty six patients of the gastroenterology and hepatology ambulatory of the Clinical Hospital of the Federal University of Paraná, Curitiba, PR, Brazil, had been selected for evaluation.

Celiac disease prevalence in Brazilian dilated cardiomyopathy patients.

Celiac disease (CD) is a permanent condition of gluten intolerance and a number of autoimmune diseases have been associated with it. In the past few years, a relation between CD and dilated cardiomyopathy (CM) was described in Europe and United States. The aim of this study was to evaluate the prevalence of CD among south Brazilian precardiac transplant patients with advanced CM.

Prevalence of autoantibodies in patients with endemic pemphigus foliaceus (fogo selvagem).

Objective: The aim of the present study was to investigate a broad spectrum of autoantibodies in patients with endemic pemphigus foliaceus (EPF)-fogo selvagem-and to determine the possible association between EPF and other autoimmune diseases.

Materials And Methods: Indirect immunofluorescence was used to test 120 patients with EPF and 200 healthy controls for the presence of the following autoantibodies: anti-desmoglein-1 (APF), anti-neutrophil cytoplasmic (ANCA), anti-smooth muscle (SMA), anti-mitochondrial (AMA), anti-nuclear (ANA), anti-liver kidney microsomal (LKM), anti-gastric parietal cells (GPCA) and anti-thyroid microsome (TMA).

Results: APF antibodies were detected in 62.