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  • Author: V. Stefanovic x
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Abstract

The aim of this study is to demonstrate the clinical manifestations and diagnostic approach to liver hydatid disease and suggest its treatment. The prospective study was carried out on 30 patients with liver hydatidosis. Hepatologic examinations were based on: medical history, physical examination, biochemical and serological tests, ultrasonography and computed tomography scanning. Twenty-five (83.3 %) patients underwent radical cyst resection, while in 5 (16.7 %) cases liver resection with left lobectomy was also performed. Hydatid cyst was histopathologically verified in all the patients. Our results showed that the patients with multiple cysts had impaired functional liver tests significantly more often than patients with unilocular cyst. In addition, ultrasonography and computed tomography scans are the valid imaging procedures in diagnosis. Radical, surgical resection of hepatic hydatid cysts is the goal of treatment.

Abstract

BEN is a primary, chronic tubulointerstitial nephritis characterized with chronic anemia, absence of edema, xantoderma, normal blood pressure and normal findings on the fundus oculi. The disease is distributed in restricted areas in Bulgaria, Romania, Croatia, Bosnia, Former Yugoslavia. Despite numerous studies on genetic and environmental factors and their possible involvement in BEN, its etiopathogenesis still remains elusive.

Our recent study aim to elucidate the possible epigenetic component in BEN development. Whole genome DNA array methylation analysis was applied to compare the methylation profiles of male and female BEN patients from endemic regions in Bulgaria and Serbia and healthy controls.

All three most prominent candidate genes with aberrations in the epigenetic profile discovered with this study are involved in the inflammatory/immune processes and oncogenesis. These data are in concordance with the reported pathological alterations in BEN. This research supports the role of epigenetic changes in BEN pathology.

Exome sequencing of 22.000 genes with Illumina Nextera Exome Enrichment Kit revealed three mutant genes (CELA1, HSPG2, and KCNK5) in BEN patients which encode proteins involved in basement membrane/extracellular matrix and vascular tone, tightly connected to process of angiogenesis. We suggest that an abnormal process of angiogenesis plays a key role in the molecular pathogenesis of BEN.