A New Severe Congenital Neutropenia Syndrome Associated with Autosomal Recessive COPZ1 Mutations.

We have identified a new inherited bone marrow (BM) failure syndrome with severe congenital neutropenia (CN) caused by autosomal recessive mutations in the coatomer protein complex I (COPI) subunit zeta 1 (COPZ1) gene. A stop-codon COPZ1 mutation and a missense mutation were found in three patients from two unrelated families. While two affected siblings with a stop-codon COPZ1 mutation suffered from congenital neutropenia (CN) that involves other hematological lineages, and non-hematological tissues, the patient with a missense COPZ1 mutation had isolated neutropenia.

ImpENSA eHealthy Conversation Skills training for healthcare professionals aimed at improving micronutrient status during the first 1000 days in South Africa.

Individuals' lifestyle behaviours determine health. Improving Early Nutrition and Health in South Africa ("ImpENSA"), an EU Erasmus+ co-funded project, aims to tackle the triple burden of malnutrition in South Africa through equipping healthcare professionals (HCPs) with knowledge and skills to effectively support healthy nutritional choices among pregnant women and mothers/infant caregivers. Healthy Conversation Skills (HCS) is a behaviour change intervention utilising open discovery questions, active listening, reflection on practice and goal-setting support through SMARTER (Specific, Measured, Action-oriented, Realistic, Timed, Evaluated and Reviewed) planning as core competences.

Transcription Factor Deformed Wings Is an Atg8a-Interacting Protein That Regulates Autophagy.

LC3 (microtubule-associated protein 1 light chain 3, called Atg8 in yeast and ) is one of the most well-studied autophagy-related proteins. LC3 controls the selectivity of autophagic degradation by interacting with LIR (LC3-interacting region) motifs also known as AIM (Atg8-interacting motifs) on selective autophagy receptors that carry cargo for degradation. Although the function of Atg8 family proteins is primarily cytoplasmic, they are also enriched in the nucleus.

Fundamentals of Flexoelectricity, Materials and Emerging Opportunities Toward Strain-Driven Nanocatalysts.

Flexoelectricity, an intrinsic property observed in materials under nonuniform deformation, entails a coupling between polarization and strain gradients. Recent catalyst advancements have reignited interest in flexoelectricity, particularly at the nanoscale, where pronounced strain gradients promote robust flexoelectric effects. This paper comprehensively examines flexoelectricity, encompassing methodologies for precise measurement, elucidating its distinctions from related phenomena, and exploring its potential applications in augmenting catalytic properties.