The article presents a clinical case demonstrating the difficulties of timely diagnosis of hereditary hemochromatosis, presents data on modern diagnosis and approaches to the treatment of the disease according to existing clinical guidelines. The described clinical case of hereditary hemochromatosis is associated with a homozygous mutation of C282Y in HFE gene in a 58-year-old patient and his twin brother. Initially, signs of iron deposition in the liver were found on MRI of the abdominal cavity. In laboratory analyses, the patient was found to have an increased level of serum iron - 40 µmol/l and ferritin - 1340 ng/ml. Subsequently, the investigation of HFE gene mutations was carried out and a mutation of C282Y in homozygous form (genotype A/A) was found, which is a molecular genetic confirmation of hereditary hemochromatosis of type 1. At the same time, the patient's twin brother at the targeted examination had the serum iron level of 36 µmol/l, the ferritin level of 600 ng/ml, and also the mutation of HFE gene, the allelic variant of A/A. The results of liver fibroelastometry of the patient correlate with the degree of fibrosis F1 by Metavir scale. Timely started therapeutic phlebotomies led to improved clinical and laboratory parameters of iron metabolism while maintaining normal levels of red blood cells and hemoglobin.

Диагностика, контроль и лечение 1/2012Сахарный диабет жегодно количество пациентов с ожирением ка-тастрофически нарастает во всем мире. Метабо-лический синдром (МС) давно перешел из сферы интересов эндокринологов и кардиологов в общемедицин-скую проблему. Кроме общепризнанных критериев МС активно изучаются и другие его компоненты: синдром по-ликистозных яичников, неалкогольная жировая болезнь печени, гиперурикемия. Немалое влияние на качество жизни больных оказывают депрессивные расстройства и дегенеративно-дистрофические заболевания суставов.Несомненно, инсулинорезистентность -основа развития всех проявлений МС. В развитии инсулино-резистентности лежит абдоминальное ожирение, про-филактика и устранение которого может сократить количество больных с МС. Исследования показывают, что факторами риска перехода предиабета в явный са-харный диабет (СД) являются как раз компоненты МС: артериальная гипертензия (АГ), избыточная масса тела, нарушенная толерантность к глюкозе, отягощенная на-следственность, поликистоз яичников [1]. Как показы-вают исследования, не всегда абдоминальное ожирение является ранним компонентом МС; последовательность появления АГ, нарушений углеводного обмена (НУО), дислипидемии также различна. Согласно популяцион- Особенности развития метаболического синдрома у женщинСоловьева А.В., Дубинина И.И. ГБОУ ВПО

Aim. To compare the efficacy and safety of prasugrel, ticagrelor, or clopidogrel as part of dual antiplatelet therapy (DAPT) in patients undergoing percutaneous coronary intervention (PCI) due to myocardial infarction (MI).Material and methods. The observational study included 74 patients who underwent PCI due to MI within the first 24 hours after the onset. The patients were devided into 3 groups: group 1 — patients who received ticagrelor as part of DAPT; group 2 — clopidogrel, group 3 — prasugrel. The follow-up period was 28 days. To assess the efficacy and safety of therapy, a composite endpoint was assessed (death + nonfatal recurrent MI (and/or stent rethrombosis) + nonfatal ischemic stroke (IS). Additional secondary endpoints were any moderate and severe (major) bleeding according to the GUSTO and/or TIMI scales. We assessed the incidence of reperfusion arrhythmias, an opening of an infarct-related coronary artery (IRCA), and non-ST elevation myocardial infarction (non-STEMI).Results. The analysis showed no significant differences in the cumulative incidence of adverse outcomes in the study groups within 28 days. The prevalence of secondary endpoints over a 28-day follow-up period was 3,1% in the ticagrelor group and 5,9% in the clopidogrel group, while no moderate and life-threatening bleeding was recorded in the prasugrel group during. There were no significant differences in the incidence of reperfusion arrhythmias, opening of an IRCA, and non-STEMI between the groups.Conclusion. The obtained results suggest the comparable efficacy and safety profiles of prasugrel, ticagrelor and clopidogrel as a part of DAPT in patients undergoing PCI due to MI. There were no significant differences in endpoint event rates. In particular, prasugrel has been shown to be as effective and safe as ticagrelor.

The retrospective analysis of 22 patients’ clinical records with the verified pulmonary artery thromboembolism (PE) with various outcomes of a disease is carried out. Hypodiagnostics of PE at a pre-hospital stage is revealed, the predictive importance of Revised Geneva Score scale is shown, predictors of a lethal outcome at a PE are defined: arterial hypotension, tachycardia, McGinn-White syndrome (SI-QIII phenomenon).