Godine 1967. Crepaldi je prvi zapazio da se u mnogo ljudi istovremeno pojavljuju pretilost, dislipidemija, šećerna bolest i hipertenzija. Kasnih sedamdesetih godina dvadesetog stoljeća njemački su istraživači takvo nakupljanje stanja nazvali metaboličkim sindromom. Otada je taj sindrom opisivan pod nekoliko naziva kao "sindrom inzulinske rezistencije", "sindrom X", "plurimetabolički sindrom", te "metabolički sindrom". Sindrom zapravo predstavlja višekomponentnu bolest nastalu kombinacijom načina življenja i čimbenika okoline, s time da su neke populacije pokazale genetičku podložnost za razvoj tog sindroma. Metabolički sindrom povećava rizik za kardiovaskularnu bolest i šećernu bolest tipa 2. Nacionalni program obrazovanja o kolesterolu -Panel liječenja odraslih III (engl. National Cholesterol Education Program -Adult Treatment Panel III, NCEP-ATP III) prepoznao je metabolički sindrom kao skup abnormalnih stanja koja povećavaju rizik, kako za kardiovaskularnu bolest (KVB), tako i za šećernu bolest tipa 2. Smjernice NCEP-ATP III također su istaknule središnju ulogu abdominalne pretilosti u razvoju tog sindroma. Rastuća prevalencija sindroma ima važne zdravstvene implikacije. Svaka sastavnica metaboličkog sindroma predstavlja potvrđeni čimbenik rizika za KVB, no prisutnost mnogih komponenti rezultira većim rizikom nego zbroj rizika povezanih s pojedinačnim komponentama. Dokazano je, primjerice, da su muškarci s istodobnom prisutnošću hiperinzulinemije nakon gladovanja, s povišenim koncentracijama apolipoproteina B, te povišenim udjelom malih LDL-čestica imali 20 puta veći rizik razvijanja KVB tijekom petogodišnjeg razdoblja praćenja u studiji, nego muškarci bez tog skupa netradicionalnih biljega rizika. Usto, rizik za KVB povezan s tom aterogenom metaboličkom trojkom ostao je značajan čak i nakon prilagodbe za tradicionalne rizične čimbenike kao što su koncentracije LDL-kolesterola, triglicerida i HDL-kolesterola. Procjena rizika uključuje listu bioloških parametara u kojoj važnu ulogu imaju lipidi, posebice trigliceridi i HDL-čestice. Tradicionalni čimbenici povezani s metaboličkim sindromom su pretilost, inzulinska rezistencija, hiperglikemija, dislipemija, hipertenzija i mikroalbuminurija.
Genetic analysis was carried out in 37 Albanian patients with haemophilia A. The factor VIII intron 22 inversion was detected only in 2/19 (10.5%) apparently unrelated patients with severe haemophilia A, while the intron 1 inversion was absent. A total of 19 different gene mutations were identified. Ten mutations were novel: four null mutations in severe haemophilia A patients (Gln1090X, Cys1832X, 2374delT, 5676insT) and six missense mutations (five in severe haemophilia A) (Ile76Thr, Leu299Pro, Asp525Glu, Cys692Tyr, His1755Leu and Trp1835Cys). None of these novel mutations occurred at CpG hotspots. These results further emphasize the extreme heterogeneity of the molecular basis of haemophilia A. The low prevalence of intron 22 inversion in Albanian patients with severe haemophilia A should be addressed by further studies.
Summary Background: The clinical value and the interrelationship of HDL and the metabolic syndrome were studied using plasma levels of TNF-a, IL 6, IL 10, IL 8, IL 1beta, IL 2R in patients with cardiovascular stenosis. Methods: On the basis of exclusion criteria, we recruited 198 male and female patients aged 45 to 75 years with CVD and 43 patients with MS. Patients were subdivided into %stenosis according to the CASS guidelines. Lipids were measured on an Olympus AU640 analyzer. Ox-LDL was measured by the immunosorbent assay and MDA by HPLC. Cytokines were analysed with DPC Immulite 1000. Statistical tests were performed using SPSS for Windows, 14.0 & Medcalc. Results: Ox-LDL and apoB were significantly higher in the MS(+) patient group (88.7 U/L) compared to the MS(-) group (77.5 U/L). Ox-LDL showed a positive correlation (P=0.001) with LDL-C, apoB and MDA. There was a higher concentration of HDL in the patient group MS(-), which was confirmed by a non-significant (P=0.849) change of apoA(I) from 1.267 g/L in the MS(+) to 1.275 g/L in the MS(-) group. A light significant increase of IL 10 (P=0.05) in MS(+) patients was observed, and the other analysed inflammation markers were mostly unchanged. MS has no direct association with the cytokine production. Conclusions: Ox-LDL and apoB were significantly higher in the MS(+) patient group. In a multiple regression analysis for ox-LDL, apoB (P=0.003) emerged as a strong predictor of the ox-LDL concentration, independent of age, gender, BMI and smoking.
Background Nowadays over-the-counter (OTC) drugs and dietary supplements are widely used. Their use can have a significant impact on the validity of laboratory results. The aim of this multicenter European study was to determine the frequency of consumption of various dietary products and OTC drugs among patients and explore their level of knowledge and awareness about the potential impact of various products on laboratory test results. Methods Eighteen European countries participated in this study. The survey was carried out anonymously on a subsequent series of outpatients (n=200) in each participating country. Included were patients who were referred to the laboratory for blood sampling and who voluntarily agreed to participate in the study. The survey included questions about the frequency of consumption of various products, awareness of the importance of informing physicians and laboratory staff about it and information about influence of preanalytical factors in general on laboratory test results. Results In total, 68% of patients were regularly taking at least one OTC drug or dietary supplement. The frequency of patients consuming at least one OTC drug or dietary supplement differed between countries (p=0.001). Vitamins (38%), minerals (34%), cranberry juice (20%), acetylsalicylic acid (ASA) (17%) and omega fatty acids (17%) were the most commonly used in our study. Conclusions The use of various OTC drugs and dietary supplements is highly prevalent in Europe and patients are often not willing to disclose this information to the laboratory staff and ordering physician. The education of both patients and healthcare staff is needed.
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