Ataxia Telangiectasia

Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar degeneration, telangiectasias, immunodeficiency, recurrent sinopulmonary infections, cancer susceptibility, and radiation sensitivity. AT is a complex disorder, whose neurological symptoms most often first appear in early childhood when children begin to sit or walk. They have immunological abnormalities: immunoglobulin and antibody deficiencies and lymphopenia. AT patients have an increased predisposition for cancers, particularly of lymphoid origin. AT is caused by mutations in the ataxia telangiectasia mutated (ATM) gene, and the role of the ATM protein is the coordination of cellular signaling pathways in response to DNA double-strand breaks, oxidative stress, and other genotoxic stresses. The diagnosis of AT is usually supported by the combination of neurological clinical features and specific laboratory abnormalities (immunoglobulin A (IgA) deficiency, lymphopenia, and increased alpha-fetoprotein (AFP) levels). There are several other neurological and rare disorders that physicians must consider when diagnosing AT. Treatment of neurological symptoms in patients with AT is only symptomatic and supportive, as there are no known treatments that can slow or stop neurodegeneration. However, other symptoms of AT, such as antibody deficiency, lung disease, developmental disorders, diabetes, or cancer, can be effectively treated. Some hope is associated with the treatment of dexamethasone in the patient’s own blood cells, which relieves neurological symptoms

The hyperimmunoglobulin E syndrome - clinical manifestation diversity in primary immune deficiency

The hyper-IgE syndromes are rare, complex primary immunodeficiencies characterized by clinical manifestation diversity, by particular susceptibility to staphylococcal and mycotic infections as well as by a heterogeneous genetic origin. Two distinct entities - the classical hyper-IgE syndrome which is inherited in an autosomal dominant pattern and the autosomal recessive hyper-IgE syndrome have been recognized. The autosomal dominant hyper-IgE syndrome is associated with a cluster of facial, dental, skeletal, and connective tissue abnormalities which are not observable in the recessive type. In the majority of affected patients with autosomal dominant hyper-IgE syndrome a mutation in the signal transducer and the activator of the transcription 3 gene has been identified, leading to an impaired Th17 cells differentiation and to a downregulation of an antimicrobial response. A mutation in the dedicator of the cytokinesis 8 gene has been identified as the cause of many cases with autosomal recessive hyper-IgE syndrome and, in one patient, a mutation in tyrosine kinase 2 gene has been demonstrated. In this paper, the authors provide a review of the clinical manifestations in the hyper-IgE syndromes with particular emphasis on the diversity of their phenotypic expression and present current diagnostic guidelines for these diseases

Progressive bronchiectasis and CMC in a patient with STAT1 GOF — a rare case of primary immunodeficiency

Bronchiestasis is a common complication developing in patients with primary immunodeficiency disorders. AD GOF STAT1 defi-ciency is characterized by CMC, repeated infections, and autoimmunity. It is the most frequently diagnosed entity in a group of PIDs with CMC. Here, we present the first Polish case of a female patient with early-onset bronchiestasis accompanied by CMC and a severe course of infections who was genetically diagnosed with AD GOF1 STAT1 mutation at the age of 15

Approaches to Methods of Risk Analysis and Assessment Regarding the Gas Supply to a City

Analysis and assessment of the reliability and safety of a gas-supply system is a key issue, given its status as critical infrastructure. A gas-supply system is characterised by continuous operation and a consequent need to achieve a high level of operating reliability and safety. Such a system has its unique aspects, with particular elements having their different functions while also simultaneously interacting in the context of the integral whole. In such circumstances, risk analysis can prove useful in planning activity to prevent damage, and also in the devising of rescue scenarios. Thus, the purpose of the analysis presented here has been to supply the information that is necessary in decision-making relating to risk reduction. One of the most comprehensive assessment methods is based on the expected value of gas shortage. Basic formulae with which to determine a generalised indicator of system reliability are also presented, with risk viewed as synonymous with the unreliability of gas supply. This paper then proposes a method by which an indicator of the expected efficiency of operation may also be determined as the quotient of chance and absolute risk. The thinking in this article has been developed on the basis of data from a real gas-supply system, while the computational methods deployed allowed applications to draw conclusions regarding possible modification of the expected gas shortages method

Approaches to Failure Risk Analysis of the Water Distribution Network with Regard to the Safety of Consumers

Contemporary risk assessment makes reference to current world trends, whereby there is increased emphasis on safety. This paper has thus sought mainly to present new approaches to failure risk assessment where the functioning of a water distribution network (WDN) is concerned. The framework for the research involved here has comprised of: (a) an analysis of WDN failure in regard to an urban agglomeration in south-east Poland; (b) failure rate analysis, taking account of the type of a water pipe (mains, distribution, service connections (SC)) and months of the year, with an assessment of results in terms of criterion values for failure rate; (c) a determination—by reference to analyses performed previously—of the compatibility of experts’ assessments in terms of standards of failure and obtained results, through rank analysis; and (d) the proposing of a modified Multi-Criteria Decision Analysis with implementation of an Analytical Hierarchy Process, to allow failure risk assessment for the WDN to be performed, on the basis of the calculated additive value of obtained risk. The analysis in question was based on real operating data, as collected from the water distribution company. It deals with failures in the WDN over a period of 13 years in operation, from 2005 to 2017

Reliability-Oriented Design of a Solar-PV Deployments

Increasing restrictions on the emission of greenhouse gases by the standards and the European Union’s policy aims at increasing the share of renewable energy sources in the energy mix of the Member States. Subsequently, we observe a rapid increase in the installed capacity of the renewable energy sources. Renewable energy sources are currently the fastest growing sectors of energy generation, specifically the photovoltaic sector. In 2005, the total installed capacity in photovoltaic installations in the European Union was about 2.17 GW, while in 2019 it was already over 130 GW. Currently, due to many forms of incentive governmental measures the construction of photovoltaic installations is rapidly increasing with installations mounted on private houses and buildings. The article presents selected issues concerning the failure modes of photovoltaic installations and a comparative assessment of the estimated and the real measured electrical production of an operational photovoltaic installation. The Solar-PV power plant design approach proposed in the paper considers the failure modes to enhance the plant’s reliability