The authors report the natural history of three patients with late-diagnosed Classic Galactosemia (CG) (at 16, 19 and 28 years). This was due to a combination of factors: absence of neonatal screening, absence of some typical acute neonatal symptoms, and negative galactosemia screening. This report underlines the value of neonatal screening and the importance of further diagnostic testing in case of late-onset manifestations.
View Article and Find Full Text PDFBuilt structures, i.e. the patterns of settlements and transport infrastructures, are known to influence per-capita energy demand and CO emissions at the urban level.
View Article and Find Full Text PDFSocial psychological theory posits entities and mechanisms that attempt to explain observable differences in behavior. For example, dual process theory suggests that an agent's behavior is influenced by intentional (arising from reasoning involving attitudes and perceived norms) and unintentional (i.e.
View Article and Find Full Text PDFTargeted protein degradation is a promising therapeutic strategy, spearheaded by the anti-myeloma drugs lenalidomide and pomalidomide. These drugs stabilize very efficiently the complex between the E3 ligase Cereblon (CRBN) and several non-native client proteins (neo-substrates), including the transcription factors Ikaros and Aiolos and the enzyme Caseine Kinase 1α (CK1α,), resulting in their degradation. Although the structures for these complexes have been determined, there are no evident interactions that can account for the high efficiency of formation of the ternary complex.
View Article and Find Full Text PDFLeishmaniasis is a zoonosis caused by unicellular protozoans . The transmission can be zoonotic or anthroponotic, depending on the species, and the main vector is the phlebotomine sandfly. The disease is endemic in the tropics of Asia and Africa but is considered rare in Portugal, especially in immunocompetent hosts.
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