Миф о "Братьях Карамазовых". Какой Достоевский нужен современной России?

В статье на основе текста романа «Братья Карамазовы» опровергается позиция И. Евлампиева, который видит в Ф.М. Достоевском по преимуществу гностического мыслителя, а также эксплицируются теоретические предпосылки тенденциозного подхода к творчеству русского писателя. Акцентируется внимание на связи романов Достоевского с православной традицией, а также значимости этой позиции для становления русского самосознания и истории России.У статті на основі тексту роману «Брати Карамазови» спростовується позиція І. Євлампієва, який вбачає у Ф.М. Достоєвському переважно гностичного мислителя, а також експлікуються теоретичні передумови тенденційного підходу до творчості російського письменника. Робиться акцент на зв’язку романів Достоєвського з православною традицією, а також на значимості цієї позиції для становлення російської самосвідомості та історії Росії.In the article the position of I. Evlampiev, who considers F.M. Dostoyevskiy, for the most part, as a gnostic thinker, is being disproved on the basis of the text of the novel “The Karamazov brothers”. Also, theoretical preconditions of tendentious understanding of the creative work of the Russian writer are being explicated. Besides, the relationship between Dostoyevskiy’s novels and orthodox tradition and the importance of this position for establishing Russian self-consciousness and the history of Russia are being indicated

Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patient

In this paper we present the detailed clinical and cytogenetic analysis of a prenatally detected complex Congenital Diaphragmatic Hernia (CDH) patient with a mosaic unbalanced translocation (5;12). High-resolution whole genome SNP array confirmed a low-level mosaicism (20%) in uncultured cells, underlining the value of array technology for identification studies. Subsequently, targeted Fluorescence In-Situ Hybridization in postmortem collected tissues demonstrated a similar low-level mosaicism, independently of the affected status of the tissue. Thus, a higher incidence of the genetic aberration in affected organs as lung and diaphragm cannot explain the severe phenotype of this complex CDH patient. Comparison with other described chromosome 5p and 12p anomalies indicated that half of the features presented in our patient (including the diaphragm defect) could be attributed to both chromosomal areas. In contrast, a few features such as the palpebral downslant, the broad nasal bridge, the micrognathia, microcephaly, abnormal dermatoglyphics and IUGR better fitted the 5p associated syndromes only. This study underlines the fact that low-level mosaicism can be associated with severe birth defects including CDH. The contribution of mosaicism to human diseases and specifically to congenital anomalies and spontaneous abortions becomes more and more accepted, although its phenotypic consequences are poorly described phenomena leading to counseling issues. Therefore, thorough follow-up of mosaic aberrations such as presented here is indicated in order to provide genetic counselors a more evidence based prediction of fetal prognosis in the future

Setting things straight: a comparison of measures of saccade trajectory deviation

In eye movements, saccade trajectory deviation has often been used as a physiological operationalization of visual attention, distraction, or the visual system’s prioritization of different sources of information. However, there are many ways to measure saccade trajectories and to quantify their deviation. This may lead to noncomparable results and poses the problem of choosing a method that will maximize statistical power. Using data from existing studies and from our own experiments, we used principal components analysis to carry out a systematic quantification of the relationships among eight different measures of saccade trajectory deviation and their power to detect the effects of experimental manipulations, as measured by standardized effect size. We concluded that (1) the saccade deviation measure is a good default measure of saccade trajectory deviation, because it is somewhat correlated with all other measures and shows relatively high effect sizes for two well-known experimental effects; (2) more generally, measures made relative to the position of the saccade target are more powerful; and (3) measures of deviation based on the early part of the saccade are made more stable when they are based on data from an eyetracker with a high sampling rate. Our recommendations may be of use to future eye movement researchers seeking to optimize the designs of their studies

Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula

Oesophageal atresia (OA) with or without tracheoesophageal fistula (TOF) are rare anatomical congenital malformations whose cause is unknown in over 90% of patients. A genetic background is suggested, and among the reported genetic defects are copy number variations (CNVs). We hypothesized that CNVs contribute to OA/TOF development. Quantifying their prevalence could aid in genetic diagnosis and clinical care strategies. Therefore, we profiled 375 patients in a combined Dutch, American and German cohort via genomic microarray and compared the CNV profiles with their unaffected parents and published control cohorts. We identified 167 rare CNVs containing genes (frequency<0.0005 in our in-house cohort). Eight rare CNVs - in six patients - were de novo, including one CNV previously associated with oesophageal disease. (hg19 chr7:g.(143820444-143839360)-(159119486-159138663)del) 1.55% of isolated OA/TOF patients and 1.62% of patients with additional congenital anomalies had de novo CNVs. Furthermore, three (15q13.3, 16p13.3 and 22q11.2) susceptibility loci were identified based on their overlap with known OA/TOF-associated CNV syndromes and overlap with loci in published CNV association case-control studies in developmental delay. Our study suggests that CNVs contribute to OA/TOF development. In addition to the identified likely deleterious de novo CNVs, we detected 167 rare CNVs. Although not directly disease-causing, these CNVs might be of interest, as they can act as a modifier in a multiple hit model, or as the second hit in a recessive condition

Signed reward prediction errors drive declarative learning

Reward prediction errors (RPEs) are thought to drive learning. This has been established in procedural learning (e.g., classical and operant conditioning). However, empirical evidence on whether RPEs drive declarative learning–a quintessentially human form of learning–remains surprisingly absent. We therefore coupled RPEs to the acquisition of Dutch-Swahili word pairs in a declarative learning paradigm. Signed RPEs (SRPEs; “better-than-expected” signals) during declarative learning improved recognition in a follow-up test, with increasingly positive RPEs leading to better recognition. In addition, classic declarative memory mechanisms such as time-on-task failed to explain recognition performance. The beneficial effect of SRPEs on recognition was subsequently affirmed in a replication study with visual stimuli

Confined placental mosaicism:Distribution of chromosomally abnormal cells over the term placenta

Objective: Non-invasive prenatal testing (NIPT) investigates placental DNA and may detect confined placental mosaicism (CPM). The aim of this study was to confirm CPM in the term placenta in cases with abnormal NIPT but normal follow-up cytogenetic studies of fetus and mother. Additionally we examined the distribution of abnormal cells over the placenta. Methods: Four chorionic villus (CV) biopsies from four placental quadrants were requested in cases where CPM was assumed. Both cell lineages of the CV, cytotrophoblast (CTB) and mesenchymal core (MC), were analyzed separately with SNP array. Results: The chromosome aberration was confirmed in 67 % of the placentas. Three quarters of the CTB and MC biopsies from these mosaic placentas were uniformly normal (57 %) or abnormal (20 %), and a minority showed mosaicism. Among 16 cases of CPM where first trimester CV were examined as well, 11 had chromosomally normal results during pregnancy. Discussion: Cytogenetic investigations of term placental biopsies suspected to be affected with CPM did not reveal the chromosome aberration in one third of the placentas. This is caused by the patchy pattern in which chromosomally abnormal cells are distributed over the placenta with the majority of the biopsies being uniformly normal. Further CPM research, including its clinical impact, requires the analysis of more than four biopsies to get insight into the extent of the affected part. Moreover, a subset of CPM type 1 and 3 seems to be only detectable with NIPT and not with first trimester CVS.</p

Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I—clinical impact

Objective: To evaluate the clinical impact of nationwide implementation of genome-wide non-invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13 (TRIDENT study). Method: Women with elevated risk based on first trimester combined testing (FCT ≥ 1:200) or medical history, not advanced maternal age alone, were offered NIPT as contingent screening test, performed by Dutch University Medical laboratories. We analyzed uptake, test performance, redraw/failure rate, turn-around time and pregnancy outcome. Results: Between 1 April and 1 September 2014, 1413/23 232 (6%) women received a high-risk FCT result. Of these, 1211 (85.7%) chose NIPT. One hundred seventy-nine women had NIPT based on medical history. In total, 1386/1390 (99.7%) women received a result, 6 (0.4%) after redraw. Mean turn-around time was 14 days. Follow-up was available in 1376 (99.0%) pregnancies. NIPT correctly predicted 37/38 (97.4%) trisomies 21, 18 or 13 (29/30, 4/4 and 4/4 respectively); 5/1376 (0.4%) cases proved to be false positives: trisomies 21 (n = 2), 18 (n = 1) and 13 (n = 2). Estimated reduction in invasive testing was 62%. Conclusion: Introduction of NIPT in the Dutch National healthcare-funded Prenatal Screening Program resulted in high uptake and a vast reduction of invasive testing. Our study supports offering NIPT to pregnant women at increased risk for fetal trisomy. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd

Pesticides: perception of environmental risk and quantification of glyphosate in atmospheric deposition (Entre Ríos, Argentina)

In Argentina there has been a growing conflict about the use of pesticides and their impacts, mainly with regard to the air compartment and areas with close proximity between agricultural and residential land uses. The present study focuses on this problem in Oro Verde (Entre Ríos, Argentina) using the case study methodology. The aim was to examine the use of agricultural pesticides in urban-rural interface areas as a factor considered problematic by the local population and that affects the air quality in the locality analyzed. The study was conducted in 2016/2018, with a mixed methodological approach. The analysis of perception of the urban population through surveys and interviews with inhabitants who consider themselves affected showed that a large proportion of them identify this problem, emphasizing impacts on the air, and consider it unresolved. Although interviewees mentioned the proximity of the houses to the spraying as an important factor, they also considered that there are other routes of entry of pesticides, for which other solutions are necessary. Determinations of the herbicide glyphosate (GLP) and its metabolite aminomethylphosphonic acid (AMPA) in atmospheric deposition (15 sites- three sampling periods) showed their presence in both urban and rural areas, in 60% of the sampling sites. The second sampling period showed higher amounts of GLP+AMPA than the first (11.82 μg/m²/15 days). The differences were not attributable to the proximity to agricultural areas, so other factors determining their emission and environmental dynamics should be discussed. The integration and analysis of the population’s viewpoints of and environmental measurements are considered necessary to address socio-environmental problems and generate knowledge that can contribute to local planning and development.En los últimos años se evidencia en Argentina una creciente conflictividad respecto al uso de plaguicidas y sus impactos, fundamentalmente en lo referido al compartimento aire y a las áreas de interfase urbano-rural con cercanía de usos del suelo agropecuario y residencial. Esta problemática fue analizada en la localidad de Oro Verde (Entre Ríos, Argentina) mediante la metodología de estudio de caso. El objetivo fue analizar el uso de plaguicidas agrícolas en las zonas de interfase urbano-rural como un factor que se constituye en un problema para la población y que afecta la calidad de aire en la localidad. Se llevó a cabo en el periodo 2016/2018 y presenta un enfoque metodológico mixto. El relevamiento y análisis de percepción a la población urbana mediante encuestas y entrevistas evidenció que una gran proporción identifica esta problemática, enfatizando los impactos en el aire e incluso consideran que la misma no se encuentra solucionada. Si bien el factor “cercanía de las viviendas con respecto a las pulverizaciones” se remarca como un importante riesgo, se considera que existen otras vías de ingreso de plaguicidas, para lo cual son necesarias otras soluciones. Las determinaciones del herbicida glifosato (GLP) y su metabolito aminomethylphosphonic acid (AMPA) en la depositación atmosférica (15 sitios-tres periodos de muestreo) mostraron su presencia en este compartimento en zonas urbanas y rurales, con un 60% de sitios con detección. El segundo periodo present mayor carga de GLP+AMPA respecto al primer periodo (11,82 μg/m²/15 días). Al no encontrarse diferencias atribuibles a la cercanía con zonas agrícolas, se abre la discusión respecto de otros factores que se encuentran determinando su emisión y dinámica ambiental y frente a lo cual adquieren relevancia los puntos de vistas expuestos por la población. La integración y análisis de estos aspectos se considera necesario al abordar problemáticas socioambientales, generando conocimientos que luego puedan aportar a la planificación y desarrollo local.EEA ParanáFil: Seehaus, Mariela. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Paraná; ArgentinaFil: Sasal, María Carolina. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Paraná; ArgentinaFil: Feito, María Carolina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Van Opstal, Natalia Veronica. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Paraná; ArgentinaFil: Gabioud, Emmanuel Adrian. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Paraná; ArgentinaFil: Beghetto, Stella. Ministerio de Economía de la Nación. Programa Cambio Rural; ArgentinaFil: Wingeyer, Ana Beatriz. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Paraná; ArgentinaFil: Wilson, Marcelo German. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Paraná; Argentina.Fil: Marino, D. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Centro de Investigaciones del Medio Ambiente; Argentin

Confined placental mosaicism detected with non-invasive prenatal testing: is there an association between mosaic ratio and pregnancy outcome?

ObjectiveConfined placental mosaicism (CPM) is associated with an increased risk for pregnancy complications, such as fetal growth restriction (FGR), preterm birth and hypertensive disorders. Pregnancies with possible CPM can be identified with non-invasive prenatal testing (NIPT). We performed a retrospective cohort study to investigate whether the mosaic ratio, as calculated with the Veriseq v2 used for NIPT, can predict adverse pregnancy outcomes in cases of CPM.MethodA mosaic ratio for trisomies detected by NIPT and obstetric data such as fetal growth, structural fetal anomalies and birthweight were retrospectively studied in a cohort of patients with CPM diagnosed between February 2021 and October 2023. Structural and sex chromosomal aberrations were not included in this study.ResultsOf 122 CPM cases, 52 cases (42.6%) showed adverse perinatal outcomes, including FGR, low birthweight, hypertensive disorders, or preterm birth. A significantly higher mosaic ratio was found in the adverse outcome group compared to those with normal outcome, but a clear-cut threshold could not be set, except potentially for trisomy 16.ConclusionThere is an association between the mosaic ratio and adverse pregnancy outcomes in cases of CPM. However, without a clear-cut threshold, it cannot be used for the individual patient for differentiation between CPM with and without clinical consequences.Genetics of disease, diagnosis and treatmen