REPLICATIVE ANALYSIS OF HEREDITARY THROMBOPHILIA FACTORS IN THE DEVELOPMENT OF PREECLAMPSIA IN THE YAKUT POPULATION
YAKUT MEDICAL JOURNAL
Authors: Serebrova, V. N.; Trifonova, E. A.; Pavlova, K. K.; Vorozhishcheva, A. Yu.; Kurtanov, Kh. A.; Pavlova, N. I.; Stepanov, V. A.
Abstract
The study of the contribution of hereditary thrombophilia to the etiopathogenesis of preeclampsia (PE) is of particular interest, since the formation of blood clots in the microvasculature vessels have affects to the processes of implantation and placentation, which subsequently leads to disorders of uteroplacental perfusion, which is a key link in the pathogenesis of this disease. The aim of this work was to conduct a replicative associations analysis of the single-nucleotide polymorphisms the four most significant genes of hereditary thrombophilia with the development of PE in the Yakut population: rs1801133 (C677T) in the MTHFR gene, rs1799963 (G20210A) in the F2, rs6025 (G999A) in the F5 gene and rs1799889 (-675 4G/5G) in the SERPINE1 gene. The results of this study indicate a statistically significant association of 4G allele of polymorphic variant rs1799889 (-675 4G/5G) in the SERPINE1 gene in formation of a hereditary predisposition to the development of this pregnancy complication in Yakuts, both in the general group of patients and in the subgroup of patients with severe PE.
The Topography of Visually Guided Grasping in the Premotor Cortex: A Dense-Transcranial Magnetic Stimulation (TMS) Mapping Study
JOURNAL OF NEUROSCIENCE
Authors: Lega, Carlotta; Pirruccio, Martina; Bicego, Manuele; Parmigiani, Luca; Chelazzi, Leonardo; Cattaneo, Luigi
Abstract
Visuomotor transformations at the cortical level occur along a network where posterior parietal regions are connected to homologous premotor regions. Grasping-related activity is represented in a diffuse, ventral and dorsal system in the posterior parietal regions, but no systematic causal description of a premotor counterpart of a similar diffuse grasping representation is available. To fill this gap, we measured the kinematics of right finger movements in 17 male and female human participants during grasping of three objects of different sizes. Single-pulse transcranial magnetic stimulation was applied 100 ms after visual presentation of the object over a regular grid of 8 spots covering the left premotor cortex (PMC) and 2 Sham stimulations. Maximum finger aperture during reach was used as the feature to classify object size in different types of classifiers. Classification accuracy was taken as a measure of the efficiency of visuomotor transformations for grasping. Results showed that transcranial magnetic stimulation reduced classification accuracy compared with Sham stimulation when it was applied to 2 spots in the ventral PMC and 1 spot in the medial PMC, corresponding approximately to the ventral PMC and the dorsal portion of the supplementary motor area. Our results indicate a multifocal representation of object geometry for grasping in the PMC that matches the known multifocal parietal maps of grasping representations. Additionally, we confirm that, by applying a uniform spatial sampling procedure, transcranial magnetic stimulation can produce cortical functional maps independent of a priori spatial assumptions.