Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: Identification of 12 novel mutations

Cystic fibrosis (CF) is caused by mutations in the CFTR gene. The spectrum of CFTR mutations varies between populations and depends on different factors, such as ethnic background and geographical location. The extensive CFTR mutation screening of 129 patients with classical or atypical CF from the south-western region of Sweden revealed the presence of 37 CFTR mutations, including 12 novel alleles. The overall mutation detection rate in this study population was 92%, the highest among all tested regions in Sweden. Eight mutations with a frequency above 1% (ΔF508, 394delTT, R117C, 3659delC, E60X, 1112delT, R764X, and 621 + 1G → T) accounted for 78% of CF chromosomes and have been recommended for inclusion in the CFTR mutation screening panel for molecular diagnosis of CF in this region. The multiple occurrence of specific CFTR alleles less common than the predominant ΔF508 mutation (394delTT, R117C, 3659delC) allowed for genotype-phenotype comparisons and revealed consistent relationships between these mutations and disease severity.published_or_final_versio

Compensation of Threshold Voltage for Process and Temperature Variations in 28nm UTBB FDSOI

As technology scales down in order to meet demands of more computing power per area, a variety of challenges emerge. Devices with channel lengths of a few nano meters require atomic precision when they are manufactured. Small irregularities in the equipment and manufacturing environment can cause large process variations from die--to--die, but also within--die variations. Along with the increasing density of transistors per die which has led to severe performance issues due to temperature variations, these effects may seriously impact operation and cause large deviations in frequency and power across a the chip. This thesis will present the analysis and design of a circuit with the goal of compensating the threshold voltage, by means of body biasing, in order to mitigate process and temperature variations. The compensation circuit is designed to provide adaptive body biasing for a large number of equally matched devices within the chip, which may be useful in digital systems with many repetitive instances. Its functionality and effect will be tested by designing it to be used with a 13--stage inverter based ring oscillator operating at 65.5MHz, and observing the improvement in frequency variation across processing corners and a temperature range from -40 degrees Celsius to 80 degrees Celsius. All circuits were designed using a commercially available 28nm fdsoi transistor technology because of its excellent susceptibility to body biasing, and its promise as a competitive technology to continue Moore`s law. Results obtained by post--layout simulations on the ring oscillator show that frequency variations across processing corners and temperature has been reduced from 18.69% down to 0.632% by utilising adaptive body biasing provided by the compensation circuit. Ring oscillator frequency temperature sensitivity in a range from -40 degrees Celsius to 80 degrees Celsius for the typical corner is shown to be as little as 29.4ppm per degree Celsiu

Africa and the taxation of permanent establishments: Is the definition of "permanent establishment" as used in the double tax agreements of selected 'fishing rich' African countries sufficient to protect the taxing rights on those diminishing natural resources?

Includes bibliographical references (leaves 115-119).This thesis tests the sufficiency of the definition of permanent establishments (PE), as contained in the Double Tax Agreements (DTAs) of selected "fishing rich" African countries, in protecting their taxing rights over profits made by non-residents from fishing in the waters of their states. The concept and meaning of "fixed place of residence" and "any other place of extraction” of natural resources is analysed in the context of establishing a PE in the Source State, taking various rules of interpretation, commentaries, judicial and academic views into account. It is concluded that although there are strong arguments in support of the view that a fishing vessel can be considered a fixed place of business, a prudent approach should be adopted. A fishing vessel is not a PE, unless specifically included in the specific DTA of Contracting States

Stress in Business Relationships

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Perception Configurations in Business Relationships

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Dream catching

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The Mental Footprint of Marketing in the Boardroom

Special Issue: Back where we belong – Marketing as the organization’s core strategypeerReviewe

Geographical distribution of cystic fibrosis carriers as population genetic determinant of COVID-19 spread and fatality in 37 countries

COVID-19 has shown a relevant heterogeneity in spread and fatality among countries together with a sig-nificant variability in its clinical presentation, indicating that host genetic factors may influence COVID-19 pathogenicity. Indeed, subjects carrying single pathogenic variants of the Cystic Fibrosis (CF) Transmem-brane Conductance Regulator (CFTR) gene - i.e. CF carriers - are more susceptible to respiratory tract infections and are more likely to undergo severe COVID-19 with higher risk of 14-day mortality. Given that CF carrier prevalence varies among ethnicities and nations, an ecological study in 37 coun-tries was conducted, in order to determine to what extent the diverse CF carrier geographical distribution may have affected COVID-19 spread and fatality during the first pandemic wave. The CF prevalence in countries, as indicator of the geographical distribution of CF carriers, significantly correlated in a direct manner with both COVID-19 prevalence and its Case Fatality Rate (CFR). In a regres-sion study weighted for the number of tests performed, COVID-19 prevalence positively correlated with CF prevalence, while CFR correlated with population percentage older than 65-year, cancer and CF preva-lence. Multivariate regression model also confirmed COVID-19 CFR to be associated with CF prevalence, after adjusting for elderly, cancer prevalence, and weighting for the number of tests performed. This study suggests a putative contribution of population genetics of CFTR in understanding the spatial distribution of COVID-19 spread and fatality.(c) 2022 The Author(s). Published by Elsevier Ltd on behalf of The British Infection Association. This is an open access article under the CC BY license ( http://creativecommons.org/licenses/by/4.0/

Customer Needing: A Challenge for the Seller Offering

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