ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies

Renal cysts are clinically and genetically heterogeneous conditions. Polycystic kidney disease (PKD) is common and its characterization has paved the way for the identification of a growing number of cilia-related disorders (ciliopathies) of which most show cystic kidneys. While the recessive form of PKD (ARPKD) virtually always presents in childhood, early onset can, in some instances, also occur in the dominant form (ADPKD). Both ADPKD genes (PKD1 and PKD2) can also be inherited in a recessive way, making the story more complex with evidence for a dosage-sensitive network. Several phenocopies are known, and mutations in HNF1ß or genes that typically cause other ciliopathies, such as nephronophthisis, Bardet–Biedl, Joubert syndrome and related disorders, can mimic PKD. An accurate genetic diagnosis is crucial for genetic counseling, prenatal diagnostics, and the clinical management of patients and their families. The increasing number of genes that have to be considered in patients with cystic kidney disease is challenging to address by conventional techniques and largely benefits from next-generation sequencing-based approaches. The parallel analysis of targeted genes considerably increases the detection rate, allows for better interpretation of identified variants, and avoids genetic misdiagnoses

Calculation of the main characteristics of the flywheel by the parametric means of T-Flex

В статье представлен расчет основных характеристик маховика, таких как критическаяскорость вращения маховика и момент сопротивления. Была создана 3D-модель маховика, включающая параметрический расчет характеристик маховика. При изменении наружного радиуса маховика происходит перерасчет момента сопротивления.The article provides calculation of the main flywheel characteristics, such as the critical flywheel speed and the moment of resistance. A 3D flywheel model was created, including a parametric recalculation of its characteristics. The reduction of the outer radius of the flywheel takes place the recalculation of the moment of resistance

Improving Unsupervised Defect Segmentation by Applying Structural Similarity to Autoencoders

Convolutional autoencoders have emerged as popular methods for unsupervised defect segmentation on image data. Most commonly, this task is performed by thresholding a pixel-wise reconstruction error based on an $\ell^p$ distance. This procedure, however, leads to large residuals whenever the reconstruction encompasses slight localization inaccuracies around edges. It also fails to reveal defective regions that have been visually altered when intensity values stay roughly consistent. We show that these problems prevent these approaches from being applied to complex real-world scenarios and that it cannot be easily avoided by employing more elaborate architectures such as variational or feature matching autoencoders. We propose to use a perceptual loss function based on structural similarity which examines inter-dependencies between local image regions, taking into account luminance, contrast and structural information, instead of simply comparing single pixel values. It achieves significant performance gains on a challenging real-world dataset of nanofibrous materials and a novel dataset of two woven fabrics over the state of the art approaches for unsupervised defect segmentation that use pixel-wise reconstruction error metrics

Uninformed Students: Student-Teacher Anomaly Detection with Discriminative Latent Embeddings

We introduce a powerful student-teacher framework for the challenging problem of unsupervised anomaly detection and pixel-precise anomaly segmentation in high-resolution images. Student networks are trained to regress the output of a descriptive teacher network that was pretrained on a large dataset of patches from natural images. This circumvents the need for prior data annotation. Anomalies are detected when the outputs of the student networks differ from that of the teacher network. This happens when they fail to generalize outside the manifold of anomaly-free training data. The intrinsic uncertainty in the student networks is used as an additional scoring function that indicates anomalies. We compare our method to a large number of existing deep learning based methods for unsupervised anomaly detection. Our experiments demonstrate improvements over state-of-the-art methods on a number of real-world datasets, including the recently introduced MVTec Anomaly Detection dataset that was specifically designed to benchmark anomaly segmentation algorithms.Comment: Accepted to CVPR 202

Feasibility study of using integrated fiber optical sensors to monitor laser-assisted metal-polymer joining

The possibilities and challenges of using fiber optical sensors to monitor the laser-assisted joining of metal-polymer joints have been described in this article. Fundamental investigation proves the basic suitability of the measuring method for this application and studies the effect of essential influencing variables of the joining process - e.g., the clamping force - on the resulting sensor signals. In addition, the strain state (because of the process temperature and shrinkage of the polymer) of the parts to be joined can be traced as a function of the joining partners, the process parameters, and the material thicknesses. It is shown that the fiber optical method is suitable for process monitoring directly in the joining zone of metal-polymer hybrids and providing a tool for detailed strain measurements in the joint zone during subsequent component testing

Full-field optical coherence tomography-An educational setup for an undergraduate lab

Optical coherence tomography, or in short OCT, is a measurement technique established in the early 1990s for the non-invasive imaging of interfaces in the bulk of biological tissues or other samples. A full-field OCT setup is built from a microscope combined with a Michelson interferometer, where the mirror in one arm is replaced by the sample. Using white light, which is temporally partially coherent, interference fringes disclose the presence of an interface whenever the lengths of both interferometer arms are nearly equal. Scanning one arm allows for a volumetric reconstruction of all interfaces inside the sample. While the importance of OCT in medicine is indisputable, it is hard to teach students the basic aspects of such technology as most available setups tend to be rather complex. It is our purpose to present a fully functional full-field OCT setup that is stripped-down to its essential components and to promote its use in an undergraduate lab course. The contribution is complemented by a description of the basic theory necessary to understand the working principle of OCT

Program for sound generation based on image color spectrum with using the recurrent neural network

This work is devoted to development and approbation of the program for sound generation based on image color spectrum with using the recurrent neural network. The work contains a description of the transition between color and music characteristics, the rationale for choosing and the description of a recurrent neural network. The choices of the neural network implementation technology as well as the results of the experiment are described

Involvement of glutaredoxin-1 and thioredoxin-1 in -amyloid toxicity and Alzheimer's disease

25 páginas, 10 figuras.Strong evidence indicates oxidative stress in the pathogenesis of Alzheimer's disease (AD). Amyloid (A) has been implicated in both oxidative stress mechanisms and in neuronal apoptosis. Glutaredoxin-1 (GRX1) and thioredoxin-1 (TRX1) are antioxidants that can inhibit apoptosis signal-regulating kinase (ASK1). We examined levels of GRX1 and TRX1 in AD brain as well as their effects on A neurotoxicity. We show an increase in GRX1 and a decrease in neuronal TRX1 in AD brains. Using SH-SY5Y cells, we demonstrate that A causes an oxidation of both GRX1 and TRX1, and nuclear export of Daxx, a protein downstream of ASK1. Atoxicity was inhibited by insulin-like growth factor-I (IGF-I) and by overexpressing GRX1 or TRX1. Thus, A neurotoxicity might be mediated by oxidation of GRX1 or TRX1 and subsequent activation of the ASK1 cascade. Deregulation of GRX1 and TRX1 antioxidant systems could be important events in AD pathogenesis.This research was supported by grants from the following Swedish foundations: Hjärnfonden (Swedish Brain Foundation), Gun och Bertil Stohnes Stiftelse, Karolinska Institutets Foundation for geriatric research, Loo and Hans Ostermans Foundation, Åke Wiberg Foundation, Svenska Lundbeck-stiftelsen, Demensförbundet, Alzheimer Foundation; Sweden, Lars Hiertas minnesstiftelse, Gamla Tjänarinnor foundation, Insamlingsstiftelsen för Alzheimer och demenforskning (SADF) and Swedish Brain Power project. AM-V was supported by Swedish Medical Research Council (Projects 03P-14096, 03X-14041, and 13X-10370). AJ was supported by a postdoctoral fellowship EX2003-0390 from the Spanish Ministerio de Educacion, Cultura y Deporte.Peer reviewe

Роль компетентностного подхода при управлении профессиональными рисками

В статье рассмотрены соответствия между опасностью, вредом здоровью, профессиональным риском и компетентностью работников, которые могут послужить основой для системы выявления и управления профессиональными рисками, обусловленными человеческим фактором.In this article compliances between danger, harm to health, occupational risk and competence of employees are considered. They can serve as a basis for the system for the detection and management of occupational risks caused by human factors