Comparative analysis and optimization of technical and weight parameters of turbo-electric propulsion systems

According to Flightpath 2050, the aviation industry is aiming to substantially reduce emissions over the coming decades. One possible solution to meet these ambitious goals is by moving to hybrid-electric drivetrain architectures which require the electric components to be extremely lightweight and efficient at the same time. It has been claimed in several publications that cryogenic and in particular superconducting components can help to fulfill such requirements that potentially cannot be achieved with non-cryogenic components. The purpose of this work was to make a fair comparison between a cryogenic turbo-electric propulsion system (CEPS) and a non-cryogenic turbo-electric propulsion system (TEPS) on a quantitative level. The results on the CEPS were presented in detail in a previous publication. The focus of this publication is to present the study on the TEPS, which in conclusion allows a direct comparison. For both systems the same top-level aircraft requirements were used that were derived within the project TELOS based on an exemplary mission profile and the physical measures of a 220-passenger aircraft. Our study concludes that a CEPS could be 10% to 40% lighter than a TEPS. Furthermore, a CEPS could have a total efficiency gain of up to 18% compared to a similar TEPS

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.

We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls (P = 0.0009, OR = 7.2) and replicated in a second series of 22 of 9,254 cases compared with 6 of 6,299 controls (P = 0.028, OR = 2.5). Most deletions were inherited, with carrier parents likely to manifest neuropsychiatric phenotypes compared to non-carrier parents (P = 0.037, OR = 6). Probands were more likely to carry an additional large copy-number variant when compared to matched controls (10 of 42 cases, P = 5.7 x 10(-5), OR = 6.6). The clinical features of individuals with two mutations were distinct from and/or more severe than those of individuals carrying only the co-occurring mutation. Our data support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications. Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls (P = 0.0009, OR = 7.2) and replicated in a second series of 22 of 9,254 cases compared with 6 of 6,299 controls (P = 0.028, OR = 2.5). Most deletions were inherited, with carrier parents likely to manifest neuropsychiatric phenotypes compared to non-carrier parents (P = 0.037, OR = 6). Probands were more likely to carry an additional large copy-number variant when compared to matched controls (10 of 42 cases, P = 5.7 × 10−5, OR = 6.6). The clinical features of individuals with two mutations were distinct from and/or more severe than those of individuals carrying only the co-occurring mutation. Our data support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications. Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease.Santhosh Girirajan... Eric Haan... Josef Gecz... et al