Non-invasive vessel examinations in carriers of LDL-receptor defective gene versus non-carriers with newly detected asymptomatic severe hypercholesterolemia.

Unlabelled: The results of the research of early vascular alterations in LDL-R carriers in comparison with those in non-carriers with severe hypercholesterolemia are controversial.

Aim: To investigate the difference between severe hypercholesterolemia patients that carry LDL-R defective gene and those that do not have it, in their functional (flow-mediated vasodilation) and structural (intima-media thickness of carotid artery and ankle-brachial index) characteristics of arterial wall.

Patients And Methods: The study included 120 hypercholesterolemic patients.

Aged human thymus hassall's corpuscles are immunoreactive for IGF-I and IGF-I receptor.

Although Hassall's corpuscles have been proposed to act in both maturation of developing thymocytes and removal of apoptotic cells, their function remains an enigma. The involvement of insulin-like growth factor I (IGF-I) in the local autocrine and paracrine control of T-cell development in human thymus is still unclear. In this study, we investigated the structure and distribution of IGF-I and IGF-I receptor (IGF-IR)-immunopositive Hassall's corpuscles in aged human thymus using bright-field immunohistochemistry and immunoelectron microscopy.

Critical evaluation of environmental exposure agents suspected in the etiology of Balkan endemic nephropathy.

Balkan endemic nephropathy (BEN), a kidney disease that occurs in rural villages in Bosnia, Bulgaria, Croatia, Romania, and Serbia, is thought to be linked to an environmental toxin. The authors review literature on proposed environmental exposure agents, report the results of field sampling and analysis studies to evaluate potentials for exposure to proposed agents, and propose criteria for future testing. They used these criteria to evaluate the evidence for suggested hypotheses, concluding that several proposed agents can be eliminated or considered unlikely based on apparent inconsistencies between clinical or epidemiologic evidence related to BEN and toxicologic or exposure evidence related to the agents.

Evaluation of the hypothesis that Balkan endemic nephropathy is caused by drinking water exposure to contaminants leaching from Pliocene coal deposits.

Balkan endemic nephropathy (BEN) is a kidney disease that has been reported in only certain rural villages in Serbia, Bulgaria, Romania, Croatia and Bosnia. The cause of BEN remains a mystery, but researchers seem to agree that exposure to one or more environmental agents is at least partially responsible. The Pliocene lignite hypothesis suggests the disease is due to long-term exposure to polycyclic aromatic hydrocarbons (PAHs) or other toxic organic compounds that have leached into drinking water supplies from low-rank coals.

Balkan endemic nephropathy and genetic variants of glutathione S-transferases.

Background: Balkan endemic nephropathy (BEN) is a non-inflammatory, chronic, slow progressing kidney disease, frequently associated with urinary tract tumors. BEN displays familial clustering without an apparent Mendelian inheritance pattern. It has been suggested that environmental toxicants damage urothelial cells in genetically susceptible individuals, which could be the cause of BEN.

Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia.

Familial hypercholesterolemia (FH) is a common, autosomal dominant disorder of lipid metabolism, caused by defects in the receptor-mediated uptake of LDL (low-density lipoproteins) due to mutations in the LDL receptor gene ( LDLR). Mutations underlying FH in Bulgaria are largely unknown. The aim of the present study was to provide information about the spectrum of point mutations in LDLR in a sample of 45 Bulgarian patients with severe hypercholesterolemia.