Diagnosis and Therapy of Microscopic Colitis with Presence of Foamy Macrophages in Children

We discuss the diagnosis of and efficacy 5-amino-2-hydroxybenzoic acid (5-ASA), Saccharomyces boulardii, or magnesium in therapy of microscopic colitis with presence of foamy macrophages. A basis for diagnosis and inclusion to the analysed group was presence of characteristic foamy macrophages in histopathological examination of hematoxylin and eosin-stained specimens collected from the large intestine, reviewed under ×200 or ×320 magnification. No statistically significant improvement was found following the use of 5-amino-2-dihydroxybenzoic acid in therapy of the disease. The use of Saccharomyces boulardii was associated with statistically significant improvement in clinical, endoscopic, and histopathological condition. Use of magnesium caused a histological, statistically significant improvement but failed to have any effect on the clinical and endoscopic presentation. In the group of children in whom no therapeutic intervention was provided, a statistically significant spontaneous clinical improvement was observed, but no statistically significant changes in endoscopic and microscopic condition were found

Mutations in the von Hippel-Lindau Tumour Suppressor Gene in Central Nervous System Hemangioblastomas

Central nervous system hemangioblastomas (cHAB) are rare tumours which most commonly arise in the cerebellum. Most tumours are sporadic, but as many as one third of cHABs occur in the course of the hereditary disorder - von Hippel-Lindau disease (VHL). In order to diagnose new VHL families in Poland we performed sequencing of the entire VHL gene in archival material (paraffin embedded hemangioblastoma tissues) in a large series of 203 unselected patients with cHAB. VHL gene mutations were detected in 70 (41%) of 171 tumour samples from which DNA of relatively good quality was isolated. We were able to obtain blood samples from 19 of mutation positive cases. Eight (42%) of these harboured germline mutations in persons from distinct undiagnosed VHL families

Chorzy trudni nietypowi Mikroropnie w tkance mięnia sercowego wykryte za pomocą biopsji endomiokardialnej u młodego chorego z kardiomiopatią rozstrzeniową i chorobą trzewną

A case of an 18-year-old male with a one-month history of progressive heart failure and suspected viral myocarditis is presented. Myocardial biopsy revealed mononuclear infiltration and the presence of granulocytes with micro-abscesses. Small bowel biopsy and autoimmunological examinations documented the presence of celiac disease. The patient’s condition gradually improved following antibiotics, standard heart failure treatment, dental caries therapy and introduction of gluten-free diet