"If you can’t go through the door, you go through the window" : three Gozitan women, their passions, and creativity

This article is based on fieldwork research conducted on the island of Gozo, part of the Republic of Malta, during the month of July, 2012. Whilst engaging with a group of local women, it was perceived that three important discourses were dominant in their life narratives: the idea that Gozitan women have a ‘hard life’ (in comparison to Maltese women), that gossip is an ever present menace which constrains life on Gozo, and the idea of ‘tradition’, which was divided between a nostalgic wish to preserve it and the yearning to challenge the conventions that fall beneath this category. This paper is supported by the data gathered from conversations with several women from this island (four of them regularly, as well as about twenty others with whom I spoke casually), yet it specifically focuses on the lives of three women who have challenged the role of the ‘typical Gozitan woman’ by exercising their passions through different creative and artistic channels. The premise underlying the research is that artistic and creative expression can both be a complement to and an escape from the professional lives led by these three individuals, but also a means through which personal selffulfilment can be achieved and exercised.peer-reviewe

“If you can’t go through the door, you go through the window”: Three Gozitan Women, their Passions, and Creativity

Francesca Vaghi (University of St Andrews) sheds light on the creative negotiations of traditional gender roles in the lives of three Gozitan women

Why Let the Dogs Out? An Exploration of Human-Animal-Human Relations in Turin, Italy

Francesca Vaghi considers relationships beyond the human through fieldwork among dogs and their owners in Turin

Re-examining the contested good: proceedings from a postgraduate workshop on good food

Following the 2017 postgraduate research workshop hosted by the SOAS Food Studies Centre, in collaboration with University of Warwick Food GRP, this article brings together nine research briefs written by various participants. Inspired by the workshop's provocative theme, “What Is Good Food?”, each author explores how food categories are shaped and negotiated in different contexts and across scales. In this multi-authored article, the question of “good” food is first presented as contingent upon nutritional, economic, political, ritual, or moral conditions. Each author then reveals how globally defined notions of food's goodness are often resisted on the ground by producers and consumers, beyond the notions of ethics or “alternative” food movements that have often been the emphasis of previous literature dealing with the topic of good food. Taken together, this article scrutinizes the effects of various hierarchies of power and invites readers to reassess why and how good food continues to be a contested category

Scottish Food Practices: Household food practices and the use of dietary information

© 2020 The Author(s). This an open access work distributed under the terms of the Creative Commons Attribution Licence (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.This report presents findings from The Scottish Food Practices study, designed to investigate what and how households across Scotland use dietary information (if at all) when cooking/eating at home, shopping for food and eating outside the home.The study aims to inform the work of Food Standards Scotland (FSS) as they develop new dietary guidance that is accessible and suitable for different population groups in Scotland. The study explores the extent to which dietary information was available, and how it was perceived and taken into account by households when cooking, eating and purchasing food, both in and outside of the home.The study adopted an in-depth qualitative approach with ten households, including those on low incomes, families with younger and older children, single-person households and older adults. Participants were recruited via networks of third sector and food advocacy organisations, as well as via NHS and FSS contacts. Fieldwork with participating households took place between January and March 2020; it ended earlier than planned, due to the social distancing restrictions put in place to control the COVID-19 outbreak.The research design comprised of three visits with each household.1. A semi-structured interview was carried out with the key participant (and other household members if they wished), followed by a photographic ‘kitchen tour’. Participants were asked about their typical patterns of cooking/eating at home, food shopping, and eating outside the home, with particular reference to dietary information.2. A video-recorded food shopping trip was conducted with the household member who was primarily responsible for food shopping in each household.3. An observation took place with one or more household members when ‘eating out of home’.Across households, participants reported having a good general understanding of dietary information. Nonetheless, this knowledge seemed to be inconsistently or rarely applied by households when purchasing food, or when eating in and out of the home. This was a consequence of participants’ apparent misunderstanding of some of the information available to them, contradictions in guidance as perceived by participants, and participants’ reliance on knowledge gained through their own lives or experiences (experiential knowledge). Price was the key deciding factor informing participants’ food purchasing decisions, except in cases where health conditions and/or special dietary requirements made it essential to pay closer attention to dietary information on food packaging.The research provides some pointers for FSS regarding the development of dietary guidance in terms of clarity of information required by consumers. This relates to addressing the interpretation of traffic light labelling and the incorporation of guidance into a healthy diet for those living with/shopping for specific health conditions, allergies, intolerances or preferences. Using price and ‘value for money’ could be a way to leverage healthier food choices in Scotland. Experiential, ‘common sense’ knowledge is important to households therefore an understanding and awareness of this, including among health care professionals, is important when considering the acceptability and efficacy of dietary guidance or information. COVID-19 has impacted on many aspects of food and eating for people in Scotland, perhaps especially so for those whose income, health or vulnerability has been affected in some way. Finding ways to support households to manage their physical and mental health and dietary preferences/needs, despite these ongoing challenges, therefore continues to be important.Final Published versio

Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors

We report a case of Klippel Trenaunay Syndrome that was monitored both clinically and molecularly over a period of 9 years. A somatic mosaic mutation of PIK3CA (p(E545G)) was identified using both cfDNA NGS liquid biopsy and tissue biopsy. At the age of 56, due to intervening clonal mutations in PIK3CA background, she developed a squamous cell carcinoma in the right affected leg which was treated surgically. Nine years later, lung bilateral adenocarcinoma arose on PIK3CA mutated tissues supported by different clonal mutations. One year later, the patient died from metastases led by a new FGFR3 clone unresponsive to standard-of-care, immunotherapy-based. Our results highlight the presence of a molecular hallmark underlying neoplastic transformation that occurs upon an angiodysplastic process and support the view that PIK3CA mutated tissues must be treated as precancerous lesions. Importantly, they remark the effectiveness of combining cfDNA NGS liquid and tissue biopsies to monitor disease evolution as well as to identify aggressive clones targetable by tailored therapy, which is more efficient than conventional protocols

Rac1 and Rac3 GTPases Control Synergistically the Development of Cortical and Hippocampal GABAergic Interneurons

The intracellular mechanisms driving postmitotic development of cortical γ-aminobutyric acid (GABA)ergic interneurons are poorly understood. We have addressed the function of Rac GTPases in cortical and hippocampal interneuron development. Developing neurons express both Rac1 and Rac3. Previous work has shown that Rac1 ablation does not affect the development of migrating cortical interneurons. Analysis of mice with double deletion of Rac1 and Rac3 shows that these GTPases are required during postmitotic interneuron development. The number of parvalbumin-positive cells was affected in the hippocampus and cortex of double knockout mice. Rac depletion also influences the maturation of interneurons that reach their destination, with reduction of inhibitory synapses in both hippocampal CA1 and cortical pyramidal cells. The decreased number of cortical migrating interneurons and their altered morphology indicate a role of Rac1 and Rac3 in regulating the motility of cortical interneurons, thus interfering with their final localization. While electrophysiological passive and active properties of pyramidal neurons including membrane capacity, resting potential, and spike amplitude and duration were normal, these cells showed reduced spontaneous inhibitory currents and increased excitability. Our results show that Rac1 and Rac3 contribute synergistically to postmitotic development of specific populations of GABAergic cells, suggesting that these proteins regulate their migration and differentiation

An explainable model of host genetic interactions linked to COVID-19 severity

We employed a multifaceted computational strategy to identify the genetic factors contributing to increased risk of severe COVID-19 infection from a Whole Exome Sequencing (WES) dataset of a cohort of 2000 Italian patients. We coupled a stratified k-fold screening, to rank variants more associated with severity, with the training of multiple supervised classifiers, to predict severity based on screened features. Feature importance analysis from tree-based models allowed us to identify 16 variants with the highest support which, together with age and gender covariates, were found to be most predictive of COVID-19 severity. When tested on a follow-up cohort, our ensemble of models predicted severity with high accuracy (ACC = 81.88%; AUCROC = 96%; MCC = 61.55%). Our model recapitulated a vast literature of emerging molecular mechanisms and genetic factors linked to COVID-19 response and extends previous landmark Genome-Wide Association Studies (GWAS). It revealed a network of interplaying genetic signatures converging on established immune system and inflammatory processes linked to viral infection response. It also identified additional processes cross-talking with immune pathways, such as GPCR signaling, which might offer additional opportunities for therapeutic intervention and patient stratification. Publicly available PheWAS datasets revealed that several variants were significantly associated with phenotypic traits such as "Respiratory or thoracic disease", supporting their link with COVID-19 severity outcome.A multifaceted computational strategy identifies 16 genetic variants contributing to increased risk of severe COVID-19 infection from a Whole Exome Sequencing dataset of a cohort of Italian patients

Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19

Thrombosis of small and large vessels is reported as a key player in COVID-19 severity. However, host genetic determinants of this susceptibility are still unclear. Congenital Thrombotic Thrombocytopenic Purpura is a severe autosomal recessive disorder characterized by uncleaved ultra-large vWF and thrombotic microangiopathy, frequently triggered by infections. Carriers are reported to be asymptomatic. Exome analysis of about 3000 SARS-CoV-2 infected subjects of different severities, belonging to the GEN-COVID cohort, revealed the specific role of vWF cleaving enzyme ADAMTS13 (A disintegrin-like and metalloprotease with thrombospondin type 1 motif, 13). We report here that ultra-rare variants in a heterozygous state lead to a rare form of COVID-19 characterized by hyper-inflammation signs, which segregates in families as an autosomal dominant disorder conditioned by SARS-CoV-2 infection, sex, and age. This has clinical relevance due to the availability of drugs such as Caplacizumab, which inhibits vWF-platelet interaction, and Crizanlizumab, which, by inhibiting P-selectin binding to its ligands, prevents leukocyte recruitment and platelet aggregation at the site of vascular damage

Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes

Carriers of single pathogenic variants of the CFTR (cystic fibrosis transmembrane conductance regulator) gene have a higher risk of severe COVID-19 and 14-day death. The machine learning post-Mendelian model pinpointed CFTR as a bidirectional modulator of COVID-19 outcomes. Here, we demonstrate that the rare complex allele [G576V;R668C] is associated with a milder disease via a gain-of-function mechanism. Conversely, CFTR ultra-rare alleles with reduced function are associated with disease severity either alone (dominant disorder) or with another hypomorphic allele in the second chromosome (recessive disorder) with a global residual CFTR activity between 50 to 91%. Furthermore, we characterized novel CFTR complex alleles, including [A238V;F508del], [R74W;D1270N;V201M], [I1027T;F508del], [I506V;D1168G], and simple alleles, including R347C, F1052V, Y625N, I328V, K68E, A309D, A252T, G542*, V562I, R1066H, I506V, I807M, which lead to a reduced CFTR function and thus, to more severe COVID-19. In conclusion, CFTR genetic analysis is an important tool in identifying patients at risk of severe COVID-19