A kinetic assay of total lipase activity for detecting lysosomal acid lipase deficiency (LAL-D) and the molecular characterization of 18 LAL-D patients from Russia.

Unlabelled: Laboratory diagnostics of lysosomal acid lipase deficiency (LAL-D), a rare disorder associated with alterations, are based on the evaluation of LAL activity. In dry blood spots (DBS) submitted for LAL-D diagnostics (the screening cohort) over a two-year period or obtained from a cohort of retrospective LAL-D patients, we measured: (1) LAL activity using a two-reaction assay with 4-methylumbelliferone palmitate (4-MU-Palm) and Lalistat-2, a specific LAL inactivator; (2) total lipase (TL) activity by a 1-hour kinetic 4-MU-Palm cleavage reaction (no Lalistat-2). The TL activity was expressed as the area under the kinetic curve after 1 hour (TL-AUC) of the reaction and presented as the median (min-max).

[Efficiency of medical versus endovascular treatment using drug-eluting stents in coronary heart disease patients with extensive lesion of the coronary bed].

The goal of the study was to assess the long-term results of endovascular treatment using drug-eluting stents in coronary heart disease patients with extensive coronary artery lesion. The study covered 478 patients with diffuse coronary artery lesion, including 220 patients receiving endovascular treatment and 258 having medical treatment (a comparison group). The immediate angiographic results and long-term clinical efficiency of endovascular treatment using rapamycin-eluting stents were studied.

[The hypothalamic-pituitary-adrenal axis and genetic variants affecting its reactivity].

The hypothalamic-pituitary-adrenal (HPA) axis plays a primary role in the body response to stresses. Activation of the HPA axis results in the production ofcorticosteroid hormones that influence a wide variety of body functions, including immunity, metabolism, ion exchange, and behavior. A well-balanced regulation of stress responses is pivotal for maintaining intrabody homeostasis.