Neonatal Diagnosis of Prader-Willi Syndrome

A síndrome de Prader-Willi tem uma prevalência aproximada de 1:25000 nascimentos. No período neonatal há hipotonia severa, atraso de crescimento e dificuldade alimentar que persistem durante o primeiro ano de vida. O quadro clínico inicial contrasta com a bulimia que se evidencia mais tarde e que, não controlada, pode conduzir à obesidade mórbida. Descrevem-se as características clínicas, o diagnóstico genético e os cuidados específicos a ter na promoção da saúde a propósito de cinco crianças com síndrome de Prader Willi, cujo diagnóstico foi feito no período neonatal

Sickle cell disease

Female patient with past medical history of anaemia associated with multiple painful crises, characterized by severe skeletal pain and fever

Diets of the sole Solea vulgaris Quensel, 1806 and Solea senegalensis Kaup, 1858 in the lower estuary of the Guadiana River (Algarve, southern Portugal): Preliminary results

The feeding habits of two major species of sole, the common sole Solea vulgaris Quensel, 1806 and the Senegalese sole Solea senegalensis Kaup, 1858 were studied in the lower estuary of the Guadiana River (Algarve, southern Portugal). An evaluation of the number, weight, and feeding coefficient of prey types showed that S. vulgaris feed on a limited variety of prey (only Polychaeta and Tanaidacea) and present low-intensity feeding activity, with small differences in diet between seasons. S. senegalensis also have a low-diversity diet (with only one more taxa, Amphipoda), but exhibit more intense feeding activity which varies seasonally, although with little seasonal variation in the relative importance of the main preys. The diet composition of these two species suggests feeding specialization.Se han examinado los hábitos alimentarios de dos especies importantes de lenguado, Solea vulgaris Quensel, 1806 y Solea senegalensis Kaup, 1858, en el bajo estuario del río Guadiana (en el Algarve, sur de Portugal). La actividad depredadora de S. vulgaris es escasa y la variedad de sus presas limitada (únicamente poliquetos y tanaidaceos), con una ligera variación estacional de la dieta. S. senegalensis también se alimenta de una variedad reducida de presas, aunque con un taxón más (anfípodos), y tiene una actividad depredadora mayor, que varía estacionalmente, aunque no hay variaciones en la importancia relativa de la presa con la estación del año. La composición de la dieta de estas dos especies sugiere la especialización de su alimentación.Instituto Español de Oceanografí

Time resolved study of cell death mechanisms induced by amine-modified polystyrene nanoparticles

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Binding site plasticity in viral PPxY Late domain recognition by the third WW domain of human NEDD4

The recognition of PPxY viral Late domains by the third WW domain of the HECT-E3 ubiquitin ligase NEDD4 (hNEDD4-WW3) is essential for the completion of the budding process of numerous enveloped viruses, including Ebola, Marburg, HTLV1 or Rabies. hNEDD4-WW3 has been validated as a promising target for the development of novel host-oriented broad spectrum antivirals. Nonetheless, finding inhibitors with good properties as therapeutic agents remains a challenge since the key determinants of binding affinity and specificity are still poorly understood. We present here a detailed structural and thermodynamic study of the interactions of hNEDD4-WW3 with viral Late domains combining isothermal titration calorimetry, NMR structural determination and molecular dynamics simulations. Structural and energetic differences in Late domain recognition reveal a highly plastic hNEDD4-WW3 binding site that can accommodate PPxY-containing ligands with varying orientations. These orientations are mostly determined by specific conformations adopted by residues I859 and T866. Our results suggest a conformational selection mechanism, extensive to other WW domains, and highlight the functional relevance of hNEDD4-WW3 domain conformational flexibility at the binding interface, which emerges as a key element to consider in the search for potent and selective inhibitors of therapeutic interest.This research has been financed by grants BIO2009-13261-C02, BIO2012-39922-CO2 and BIO2016-78746-C2-1-R from the Spanish Ministry of Education and Science (I.L.) including AEI/FEDER EU funds, by CTQ2017-83810-R grant (F.J.B) and by BFU2014-53787-P, the IRB Barcelona and the BBVA Foundation (M.J.M)