73 research outputs found

    Аудит як процедура контролю за станом платіжної системи суб’єкта господарської діяльності

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    У статті розглядаються питання аудиту розрахункових операцій. Виділено різні види аудиторських процедур – аналітичні та альтернативні. Визначено порядок проведення аудиторської перевірки розрахунків.В статье рассматриваются вопросы аудита расчетных операций. Выделены различные виды аудиторских процедур – аналитические и альтернативные. Определен порядок проведения аудиторской проверки.In the article the issues of audit of payments are revealed. Various types of audit procedures – analytical and alternative are identified. The procedure for conducting the audit is stipulated

    The Mood and Resilience in Offspring (MARIO) project:a longitudinal cohort study among offspring of parents with and without a mood disorder

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    Background:One of the most robust risk factors for developing a mood disorder is having a parent with a mood disorder. Unfortunately, mechanisms explaining the transmission of mood disorders from one generation to the next remain largely elusive. Since timely intervention is associated with a better outcome and prognosis, early detection of intergenerational transmission of mood disorders is of paramount importance. Here, we describe the design of the Mood and Resilience in Offspring (MARIO) cohort study in which we investigate: 1. differences in clinical, biological and environmental (e.g., psychosocial factors, substance use or stressful life events) risk and resilience factors in children of parents with and without mood disorders, and 2. mechanisms of intergenerational transmission of mood disorders via clinical, biological and environmental risk and resilience factors. Methods: MARIO is an observational, longitudinal cohort study that aims to include 450 offspring of parents with a mood disorder (uni- or bipolar mood disorders) and 100-150 offspring of parents without a mood disorder aged 10-25 years. Power analyses indicate that this sample size is sufficient to detect small to medium sized effects. Offspring are recruited via existing Dutch studies involving patients with a mood disorder and healthy controls, for which detailed clinical, environmental and biological data of the index-parent (i.e., the initially identified parent with or without a mood disorder) is available. Over a period of three years, four assessments will take place, in which extensive clinical, biological and environmental data and data on risk and resilience are collected through e.g., blood sampling, face-to-face interviews, online questionnaires, actigraphy and Experience Sampling Method assessment. For co-parents, information on demographics, mental disorder status and a DNA-sample are collected.Discussion: The MARIO cohort study is a large longitudinal cohort study among offspring of parents with and without mood disorders. A unique aspect is the collection of granular data on clinical, biological and environmental risk and resilience factors in offspring, in addition to available parental data on many similar factors. We aim to investigate the mechanisms underlying intergenerational transmission of mood disorders, which will ultimately lead to better outcomes for offspring at high familial risk.</p

    The Mood and Resilience in Offspring (MARIO) project:a longitudinal cohort study among offspring of parents with and without a mood disorder

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    Background:One of the most robust risk factors for developing a mood disorder is having a parent with a mood disorder. Unfortunately, mechanisms explaining the transmission of mood disorders from one generation to the next remain largely elusive. Since timely intervention is associated with a better outcome and prognosis, early detection of intergenerational transmission of mood disorders is of paramount importance. Here, we describe the design of the Mood and Resilience in Offspring (MARIO) cohort study in which we investigate: 1. differences in clinical, biological and environmental (e.g., psychosocial factors, substance use or stressful life events) risk and resilience factors in children of parents with and without mood disorders, and 2. mechanisms of intergenerational transmission of mood disorders via clinical, biological and environmental risk and resilience factors. Methods: MARIO is an observational, longitudinal cohort study that aims to include 450 offspring of parents with a mood disorder (uni- or bipolar mood disorders) and 100-150 offspring of parents without a mood disorder aged 10-25 years. Power analyses indicate that this sample size is sufficient to detect small to medium sized effects. Offspring are recruited via existing Dutch studies involving patients with a mood disorder and healthy controls, for which detailed clinical, environmental and biological data of the index-parent (i.e., the initially identified parent with or without a mood disorder) is available. Over a period of three years, four assessments will take place, in which extensive clinical, biological and environmental data and data on risk and resilience are collected through e.g., blood sampling, face-to-face interviews, online questionnaires, actigraphy and Experience Sampling Method assessment. For co-parents, information on demographics, mental disorder status and a DNA-sample are collected.Discussion: The MARIO cohort study is a large longitudinal cohort study among offspring of parents with and without mood disorders. A unique aspect is the collection of granular data on clinical, biological and environmental risk and resilience factors in offspring, in addition to available parental data on many similar factors. We aim to investigate the mechanisms underlying intergenerational transmission of mood disorders, which will ultimately lead to better outcomes for offspring at high familial risk.</p

    AEROsol generic classification using a novel Satellite remote sensing Approach (AEROSA)

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    Numerous studies (hereafter GA: general approach studies) have been made to classify aerosols into desert dust (DD), biomass-burning (BB), clean continental (CC), and clean maritime (CM) types using only aerosol optical depth (AOD) and Ångström exponent (AE). However, AOD represents the amount of aerosol suspended in the atmospheric column while the AE is a qualitative indicator of the size distribution of the aerosol estimated using AOD measurements at different wavelengths. Therefore, these two parameters do not provide sufficient information to unambiguously classify aerosols into these four types. Evaluation of the performance of GA classification applied to AErosol Robotic NETwork (AERONET) data, at sites for situations with known aerosol types, provides many examples where the GA method does not provide correct results. For example, a thin layer of haze was classified as BB and DD outside the crop burning and dusty seasons respectively, a thick layer of haze was classified as BB, and aerosols from known crop residue burning events were classified as DD, CC, and CM by the GA method. The results also show that the classification varies with the season, for example, the same range of AOD and AE were observed during a dust event in the spring (20th March 2012) and a smog event in the autumn (2nd November 2017). The results suggest that only AOD and AE cannot precisely classify the exact nature (i.e., DD, BB, CC, and CM) of aerosol types without incorporating more optical and physical properties. An alternative approach, AEROsol generic classification using a novel Satellite remote sensing Approach (AEROSA), is proposed to provide aerosol amount and size information using AOD and AE, respectively, from the Terra-MODIS (MODerate resolution Imaging Spectroradiometer) Collection 6.1 Level 2 combined Dark Target and Deep Blue (DTB) product and AERONET Version 3 Level 2.0 data. Although AEROSA is also based on AOD and AE, it does not claim the nature of aerosol types, instead providing information on aerosol amount and size. The purpose is to introduce AEROSA for those researchers who are interested in the generic classification of aerosols based on AOD and AE, without claiming the exact aerosol types such as DD, BB, CC, and CM. AEROSA not only provides 9 generic aerosol classes for all observations but can also accommodate variations in location and season, which GA aerosol types do not.</jats:p

    Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency

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    Isolated aldosterone synthase deficiency is a rare autosomal recessive disorder caused by pathogenic variants in CYP11B2, resulting in impaired aldosterone synthesis. We report on a neonate with isolated aldosterone synthase deficiency caused by a novel homozygous CYP11B2 variant Chr8: NM_000498.3: c.400G>A p.(Gly134Arg). The patient presented shortly after birth with severe signs of aldosterone deficiency. Interestingly, segregation analysis revealed that the patient's asymptomatic father was also homozygous for the CYP11B2 variant. Biochemical evaluation of the father indicated subclinical enzyme impairment, characterized by elevated aldosterone precursors. Apparently, this homozygous variant led to different clinical phenotypes in two affected relatives. In this manuscript we elaborate on the biochemical and genetic work-up performed and describe potential pitfalls in CYP11B2 sequencing due to its homology to CYP11B1

    Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence

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    Intelligence is highly heritable(1) and a major determinant of human health and well-being(2). Recent genome-wide meta-analyses have identified 24 genomic loci linked to variation in intelligence3-7, but much about its genetic underpinnings remains to be discovered. Here, we present a large-scale genetic association study of intelligence (n = 269,867), identifying 205 associated genomic loci (190 new) and 1,016 genes (939 new) via positional mapping, expression quantitative trait locus (eQTL) mapping, chromatin interaction mapping, and gene-based association analysis. We find enrichment of genetic effects in conserved and coding regions and associations with 146 nonsynonymous exonic variants. Associated genes are strongly expressed in the brain, specifically in striatal medium spiny neurons and hippocampal pyramidal neurons. Gene set analyses implicate pathways related to nervous system development and synaptic structure. We confirm previous strong genetic correlations with multiple health-related outcomes, and Mendelian randomization analysis results suggest protective effects of intelligence for Alzheimer's disease and ADHD and bidirectional causation with pleiotropic effects for schizophrenia. These results are a major step forward in understanding the neurobiology of cognitive function as well as genetically related neurological and psychiatric disorders.Peer reviewe

    Comparative genetic architectures of schizophrenia in East Asian and European populations

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    Schizophrenia is a debilitating psychiatric disorder with approximately 1% lifetime risk globally. Large-scale schizophrenia genetic studies have reported primarily on European ancestry samples, potentially missing important biological insights. Here, we report the largest study to date of East Asian participants (22,778 schizophrenia cases and 35,362 controls), identifying 21 genome-wide-significant associations in 19 genetic loci. Common genetic variants that confer risk for schizophrenia have highly similar effects between East Asian and European ancestries (genetic correlation = 0.98 ± 0.03), indicating that the genetic basis of schizophrenia and its biology are broadly shared across populations. A fixed-effect meta-analysis including individuals from East Asian and European ancestries identified 208 significant associations in 176 genetic loci (53 novel). Trans-ancestry fine-mapping reduced the sets of candidate causal variants in 44 loci. Polygenic risk scores had reduced performance when transferred across ancestries, highlighting the importance of including sufficient samples of major ancestral groups to ensure their generalizability across populations

    Robust estimation of bacterial cell count from optical density

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    Optical density (OD) is widely used to estimate the density of cells in liquid culture, but cannot be compared between instruments without a standardized calibration protocol and is challenging to relate to actual cell count. We address this with an interlaboratory study comparing three simple, low-cost, and highly accessible OD calibration protocols across 244 laboratories, applied to eight strains of constitutive GFP-expressing E. coli. Based on our results, we recommend calibrating OD to estimated cell count using serial dilution of silica microspheres, which produces highly precise calibration (95.5% of residuals &lt;1.2-fold), is easily assessed for quality control, also assesses instrument effective linear range, and can be combined with fluorescence calibration to obtain units of Molecules of Equivalent Fluorescein (MEFL) per cell, allowing direct comparison and data fusion with flow cytometry measurements: in our study, fluorescence per cell measurements showed only a 1.07-fold mean difference between plate reader and flow cytometry data

    ATLAS Run 1 searches for direct pair production of third-generation squarks at the Large Hadron Collider

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