0000000000202411
AUTHOR
Michele Pinelli
Concurrent optimization of size and switch-on priority of a multisource energy system for a commercial building application
Abstract In recent years, the governments of most nations have pledged to (i) limit carbon dioxide emissions, (ii) reduce primary energy consumption by increasing production, distribution and end-use efficiency and (iii) increase the utilization of renewable energy sources. In general, these goals are pursued separately by law, by subsidizing renewable energy technologies, reducing the demand or using high efficiency technologies. In this context, multi-source systems for the fulfillment of energy demands are highly advantageous because they are based on different technologies which use renewable, partially renewable and fossil energy sources. However, the main issues of multi-source system…
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant.
Almost half of all individuals affected by intellectual disability (ID) remain undiagnosed. In the Solve-RD project, exome sequencing (ES) datasets from unresolved individuals with (syndromic) ID (n = 1,472 probands) are systematically reanalyzed, starting from raw sequencing files, followed by genome-wide variant calling and new data interpretation. This strategy led to the identification of a disease-causing de novo missense variant in TUBB3 in a girl with severe developmental delay, secondary microcephaly, brain imaging abnormalities, high hypermetropia, strabismus and short stature. Interestingly, the TUBB3 variant could only be identified through reanalysis of ES data using a genome-wi…
Measurement and Prediction of Centrifugal Compressor Axial Forces During Surge—Part II: Dynamic Surge Model
The force acting on centrifugal compressors is an important parameter to be considered throughout the operating life of these turbomachines. When the compressor is operating in surge conditions, these forces can become highly dangerous for the mechanical and aerodynamic structures. This instability is usually avoided in industrial applications, but the antisurge system may not react in time when emergency shutdowns or power failures take place. During these rapid transients, surge can develop, generating unsteady forces which can harm the close clearance components of the compressor. Therefore, the capability to predict the characteristics and the dynamics of these surge forces would allow …
Numerical Investigation of a Wood-Chip Downdraft Gasifier
Biomass gasification is regarded as one of the most promising technology in the renewable energy field. The outcome of such operation, i.e. the synfuel, can be exploited in several ways, for example powering engines and turbines, and is considered more flexible than the biomass itself. For this reason, a careful analysis of the gasification performance is of paramount importance for the optimization of the process. One of the techniques that can be used for such a purpose, is the numerical analysis. CFD is indeed a tool that can be of great help in the design and study of the operation of the gasifier, allowing for an accurate prediction of the operating parameters. In this work, a downdraf…
Experimental Investigation of Stall and Surge in a Multistage Compressor
Flow instability conditions, in particular during surge and stall phenomena, have always influenced the operational reliability of turbo-compressors and have attracted significant interest resulting in extensive literature. Nowadays, this subject is still one of the most investigated because of its high relevance on centrifugal and axial compressor operating flow range, performance and efficiency. Many researchers approach this important issue by developing numerical models, whereas others approach it through experimental studies specifically carried out in order to better comprehend this phenomenon. The aim of this paper is to experimentally analyze the stable and unstable operating condit…
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
International audience; Purpose: Nontruncating variants in SMARCA2, encoding a catalytic subunit of SWI/SNF chromatin remodeling complex, cause Nicolaides-Baraitser syndrome (NCBRS), a condition with intellectual disability and multiple congenital anomalies. Other disorders due to SMARCA2 are unknown.Methods: By next-generation sequencing, we identified candidate variants in SMARCA2 in 20 individuals from 18 families with a syndromic neurodevelopmental disorder not consistent with NCBRS. To stratify variant interpretation, we functionally analyzed SMARCA2 variants in yeasts and performed transcriptomic and genome methylation analyses on blood leukocytes.Results: Of 20 individuals, 14 showed…