Arch Med Sci
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Familial hypercholesterolaemia (FH) is a clinical syndrome characterised by elevated serum total cholesterol (TCHOL) levels due to an increase in low-density lipoprotein (LDL) cholesterol, by tendon xanthomata and clinical manifestations of ischaemic heart disease in early life. Typically, it results from mutations in the low-density lipoprotein receptor (LDLR) gene. So far, more than 800 mutations have been reported for the LDLR gene and account for FH. The nature of LDLR gene mutations varies among different ethnicities. Until now no mutations of LDLR have been reported in the Albanian population. ⋯ This report describes two LDLR gene mutations accounting for FH in Albania (1646G>A, 81T>C).
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The aim of the study was to evaluate left ventricular cardiac systolic and diastolic functions by echocardiography in multitransfused children and the possible risk of hepatitis C virus infection as an additional factor impairing cardiac functions in these patients. ⋯ Multitransfused children are more liable to left ventricular diastolic dysfunction suggested by impaired relaxation probably due to iron overload and anaemia. Hepatitis C virus infection is an additional factor which might share in impairing left ventricular systolic function. Left ventricular performance is better preserved when chelation treatment is adjusted to maintain serum ferritin at <1000 ng/ml.
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The treatment of hyperthyroidism is targeted at reducing the production of thyroid hormones by inhibiting their synthesis or suppressing their release, as well as by controlling their influence on peripheral tissue (conservative therapy, medical treatment). Radical treatment includes surgical intervention to reduce the volume of thyroid tissue or damage of the mechanisms of thyroid hormone synthesis by radioiodine ((131)|) administration. ⋯ The therapeutic effects of the isotope are obtained by the emission of β radiation. In the paper, the effects of administered drugs (antithyroid, glucocorticosteroids, lithium carbonate, inorganic iodine, β-blockers) on the final outcome of radioiodine therapy in patients with hyperthyroidism are discussed.
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To assess the effect of a comprehensive community-based programme for increasing physical activity (PA) after 2 years of interventions. ⋯ We suggest that the synergism resulting from community collaborations has been effective in improving some aspects of PA in our community. The ongoing changes in environmental factors and policies can help in increasing the worksite and transportation PA in later stages of this community-based programme.
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This study investigated the prevalence of transthoracic echocardiographic abnormalities in patients with ischemic stroke (IS), subarachnoid hemorrhage (SAH), and intracerebral hemorrhage (ICH) in sinus rhythm. ⋯ Transthoracic echocardiographic abnormalities are more prevalent in patients with IS than in patients with SAH or ICH.