Publications by authors named "Guldenschuh I"

Purpose: Familial adenomatous polyposis is an inherited colorectal cancer syndrome characterized by the presence of multiple adenomatous colorectal polyps. Molecular studies have revealed that germline mutations in the APC gene are the underlying cause of the disease. The nonsteroidal anti-inflammatory agent sulindac has been shown to reduce the number of colorectal adenomas.

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Background: There is little information on the effects of Helicobacter pylori eradication in patients with a primary diagnosis of gastro-oesophageal reflux disease (GORD). Our aim was to investigate the effect of H pylori eradication in this group of patients.

Methods: We did a double-blind, randomised, placebo-controlled study in 70 patients with GORD.

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At 6 years of age, a girl with tricuspid atresia underwent a Björk modified Fontan procedure with implantation of a Carpentier Edwards bioprosthesis between the right atrium and the right ventricle. Ten years later she developed increasing edema, ascites and pleural effusions. The work-up showed severe stenosis of the bioprosthesis and protein losing enteropathy with a massive decrease of the albumin level to 14 g/l (normal 40-50 g/l).

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A case of severe ECG abnormalities occurring during pre-eclampsia is presented. Although these electrocardiographic changes were indicative of severe alterations of coronary flow, neither structural nor functional abnormalities could be documented during subsequent diagnostic workup. The pathogenetic pathways potentially involved in this case including coronary spasms are briefly discussed.

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DNA methylation plays an important part in the regulation of gene expression. Alterations in DNA methylation in tumours have been reported and have been used to generate hypotheses about mutagenesis and silencing of tumour suppressor genes. However, the underlying mechanism is still poorly understood, and conflicting data on the levels of overexpression of 5'-cytosine DNA methyltransferase in sporadic colon carcinoma have been published.

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Spontaneous bacterial peritonitis (SBP) and varices bleeding are the most dangerous complications of liver cirrhosis. Symptoms of SBP are often nonspecific. SBP is diagnosed in the presence of more than 250 granulocytes/ml ascites and/or positive ascites cultures.

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Purpose: To evaluate dynamic magnetic resonance (MR) defecography performed with a superconducting, open-configuration system in diagnosis of defecation disorders.

Materials And Methods: Five healthy volunteers and 15 patients with defecation disorders were studied with MR defecography performed with a superconducting, open-configuration system; the patients also underwent fluoroscopic defecography. Before MR imaging, the rectum was filled with 300 mL of mashed potatoes mixed with 1.

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The APC gene was investigated in 31 unrelated polyposis coli families by SSCP analysis and the protein truncation test. Twenty-three germline mutations were identified which gave rise to a variety of different phenotypes. Some of these mutations have already been described; however we report six previously unpublished mutations.

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Although hyperviscosity syndrome may lead to cerebral hypoxia and produce some degree of dementia, this condition is rarely recognized. We report a patient in whom moderate dementia was the only manifestation of a hyperviscosity syndrome due to an IgG-κ myeloma. Dementia dramatically improved following plasmapheresis.

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