Genetic testing in dementia — utility and clinical strategies

Techniques for clinical genetic testing in dementia disorders have advanced rapidly but remain to be more widely implemented in practice. A positive genetic test offers a precise molecular diagnosis, can help members of an affected family to determine personal risk, provides a basis for reproductive choices and can offer options for clinical trials. The likelihood of identifying a specific genetic cause of dementia depends on the clinical condition, the age at onset and family history. Attempts to match phenotypes to single genes are mostly inadvisable owing to clinical overlap between the dementias, genetic heterogeneity, pleiotropy and concurrent mutations. Currently, the appropriate genetic test in most cases of dementia is a next-generation sequencing gene panel, though some conditions necessitate specific types of test such as repeat expansion testing. Whole-exome and whole-genome sequencing are becoming financially feasible but raise or exacerbate complex issues such as variants of uncertain significance, secondary findings and the potential for re-analysis in light of new information. However, the capacity for data analysis and counselling is already restricting the provision of genetic testing. Patients and their relatives need to be given reliable information to enable them to make informed choices about tests, treatments and data sharing; the ability of patients with dementia to make decisions must be considered when providing this information

International Consensus Statement on Rhinology and Allergy: Rhinosinusitis

Background: The 5 years since the publication of the first International Consensus Statement on Allergy and Rhinology: Rhinosinusitis (ICAR‐RS) has witnessed foundational progress in our understanding and treatment of rhinologic disease. These advances are reflected within the more than 40 new topics covered within the ICAR‐RS‐2021 as well as updates to the original 140 topics. This executive summary consolidates the evidence‐based findings of the document. Methods: ICAR‐RS presents over 180 topics in the forms of evidence‐based reviews with recommendations (EBRRs), evidence‐based reviews, and literature reviews. The highest grade structured recommendations of the EBRR sections are summarized in this executive summary. Results: ICAR‐RS‐2021 covers 22 topics regarding the medical management of RS, which are grade A/B and are presented in the executive summary. Additionally, 4 topics regarding the surgical management of RS are grade A/B and are presented in the executive summary. Finally, a comprehensive evidence‐based management algorithm is provided. Conclusion: This ICAR‐RS‐2021 executive summary provides a compilation of the evidence‐based recommendations for medical and surgical treatment of the most common forms of RS

Silicon nanoparticles produced by spark discharge

On the example of silicon, the production of nanoparticles using spark discharge is shown to be feasible for semiconductors. The discharge circuit is modelled as a damped oscillator circuit. This analysis reveals that the electrode resistance should be kept low enough to limit energy loss by Joule heating and to enable effective nanoparticle production. The use of doped electrodes results in a thousand-fold increase in the mass production rate as compared to intrinsic silicon. Pure and oxidised uniformly sized silicon nanoparticles with a primary particle diameter of 3–5 nm are produced. It is shown that the colour of the particles can be used as a good indicator of the oxidation state. If oxygen and water are banned from the spark generation system by (a) gas purification, (b) outgassing and (c) by initially using the particles produced as getters, unoxidised Si particles are obtained. They exhibit pyrophoric behaviour. This continuous nanoparticle preparation method can be combined with other processing techniques, including surface functionalization or the immediate impaction of freshly prepared nanoparticles onto a substrate for applications in the field of batteries, hydrogen storage or sensors.Chemical EngineeringApplied Science