Search results for "PGT"
showing 6 items of 6 documents
A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report
2021
Abstract Hereditary ectodermal dysplasias are a complex group of inherited disorders characterised by abnormalities in two or more ectodermal derivatives (skin, nails, sweat glands, etc.). There are two main types of these disorders – hidrotic and hypohidrotic/anhidrotic ectodermal dysplasias. Hypohidrotic ectodermal dysplasia (HED) or Christ-Siemens-Touraine syndrome (OMIM: 305100 ) occurs in 1 out of 5000–10,000 births [19] and has an X-linked recessive inheritance pattern (X-linked hypohydrotic ectodermal dysplasia – XLHED) [2] . The main cause of XLHED is a broad range of pathogenic variants in the EDA gene (HGNC:3157, Xq12-13) which encodes the transmembrane protein ectodysplasin-A [4]…
CFD Simulation of Solid Liquid Suspensions in Baffled Stirred Vessels Below Complete Suspension Speed
2011
Suspension of solid particles into liquids within stirred vessels is a complex phenomenon encountered in several industrial applications. Most researchers have focused their attention on the assessment of the minimum impeller speed (Njs) able to guarantee the suspension of all particles. Actually, in a number of industrial cases an impeller speed N lower than Njs is chosen as typical operating condition (Oldshue, 1983) as the resulting energy savings well counterbalance the loss of active interfacial area. Therefore, the assessment of the amount of unsuspended particles at any given impeller speed represents the key to quantify the economical advantage/disadvantage of adopting an impeller s…