Sylvie Mouysset, Jean-Pierre Bardet & François-Joseph Ruggiu (dir.), « Car c’est moy que je peins ». Écritures de soi, individu et liens sociaux (Europe, xve-xxe siècle)

Le but de ce volume, véritable prisme de questionnements et d’études de cas, est d’essayer de tracer, à travers les écritures de soi, les conditions d’émergence d’un moi, d’un ego, de la notion même d’individu. Nécessairement, ceux qui l’ont conçu ont dû ratisser large. Les différentes contributions analysent des cas dispersés sur plusieurs siècles, en tenant compte de plusieurs genres de récits de soi : livres de raison, journaux plus ou moins intimes, chroniques… Les présupposés sous-jacent..

Dominique PASQUIER, La culture des sentiments. L'expérience télévisuelle des adolescents, Editions de la Maison des Sciences de l'Homme, Paris, 1999, 236 p.

Adopter le regard des adolescents pour voir par leurs yeux comment ils apprennent à aimer par la médiation de la télévision, telle est l'expérience sociologique tentée par Dominique Pasquier. Elle s'est d'abord posé une question apparemment ponctuelle : comment comprendre le succès d'Hélène et les garçons chez les jeunes ? Quelle place a occupé dans leur vie, dans leur socialisation, cette série généralement jugée simpliste, critiquée par toute la presse de l'époque ­ entre 1992 et 199..

« Ma vie est un ouvrage à l’aiguille »

La couture et la broderie sont deux activités qui ont marqué, pendant des siècles, la présence féminine à l’intérieur de la famille. Parfois geste technique et nécessaire, parfois moment de formation et/ou d’évasion, la broderie a d’ailleurs constitué l’un des savoir-faire nécessaires pour la jeune fille bourgeoise vouée au mariage, nécessitant, pour l’affirmation de sa présence sociale, un trousseau. Par ailleurs, pendant ces derniers siècles, les femmes se sont emparées de l’écriture pour en faire à la fois un moment de réflexion, de gestion, de mémoire de soi et de la famille : en quoi ces pratiques se ressemblent-elles ? En quoi la solitude, le repli sur soi, le silence, la lenteur, la précision du geste, le marquage (du papier, du tissu) deviennent, tout le long du xixe siècle, les éléments communs de savoir-faire qui contribuent de façon analogue à forger, dans l’espace et dans le temps, l’identité individuelle féminine et son insertion sociale ? En quoi l’écriture de soi a accompagné, puis remplacé, le travail de l’aiguille ?Sewing and embroidery have long been women’s activities within families. Combining technical gestures, training and at times evasion embroidery was considered a necessary skill for young girls in bourgeois families who needed a trousseau for their marriage. Similarly, women used writing to reflect, to manage affaires and to consign personal and familial memories. The article explores the similarity of these practices, focusing on the way solitude, silence, the precision of gestures and the marking of paper or cloth became during the 19th century features that allowed an individual feminine identity to develop and acquire social status. To what extent did private writing gradually replace needlework

Dominique PASQUIER, La culture des sentiments. L'expérience télévisuelle des adolescents, Editions de la Maison des Sciences de l'Homme, Paris, 1999, 236 p.

Adopter le regard des adolescents pour voir par leurs yeux comment ils apprennent à aimer par la médiation de la télévision, telle est l'expérience sociologique tentée par Dominique Pasquier. Elle s'est d'abord posé une question apparemment ponctuelle : comment comprendre le succès d'Hélène et les garçons chez les jeunes ? Quelle place a occupé dans leur vie, dans leur socialisation, cette série généralement jugée simpliste, critiquée par toute la presse de l'époque ­ entre 1992 et 199..

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Peer reviewe

Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

Background: While SARS-CoV-2 similarly infects men and women, COVID-19 outcome is less favorable in men. Variability in COVID-19 severity may be explained by differences in the host genome. Methods: We compared poly-amino acids variability from WES data in severely affected COVID-19 patients versus SARS-CoV-2 PCR-positive oligo-asymptomatic subjects. Findings: Shorter polyQ alleles (≤22) in the androgen receptor (AR) conferred protection against severe outcome in COVID-19 in the first tested cohort (both males and females) of 638 Italian subjects. The association between long polyQ alleles (≥23) and severe clinical outcome (p = 0.024) was also validated in an independent cohort of Spanish men <60 years of age (p = 0.014). Testosterone was higher in subjects with AR long-polyQ, possibly indicating receptor resistance (p = 0.042 Mann-Whitney U test). Inappropriately low serum testosterone level among carriers of the long-polyQ alleles (p = 0.0004 Mann-Whitney U test) predicted the need for intensive care in COVID-19 infected men. In agreement with the known anti-inflammatory action of testosterone, patients with long-polyQ and age ≥60 years had increased levels of CRP (p = 0.018, not accounting for multiple testing). Interpretation: We identify the first genetic polymorphism that appears to predispose some men to develop more severe disease. Failure of the endocrine feedback to overcome AR signaling defects by increasing testosterone levels during the infection leads to the polyQ tract becoming dominant to serum testosterone levels for the clinical outcome. These results may contribute to designing reliable clinical and public health measures and provide a rationale to test testosterone as adjuvant therapy in men with COVID-19 expressing long AR polyQ repeats. Funding: MIUR project "Dipartimenti di Eccellenza 2018-2020" to Department of Medical Biotechnologies University of Siena, Italy (Italian D.L. n.18 March 17, 2020) and "Bando Ricerca COVID-19 Toscana" project to Azienda Ospedaliero-Universitaria Senese. Private donors for COVID-19 research and charity funds from Intesa San Paolo

Monogenic variants in dystonia: an exome-wide sequencing study

Background Dystonia is a clinically and genetically heterogeneous condition that occurs in isolation (isolated dystonia), in combination with other movement disorders (combined dystonia), or in the context of multisymptomatic phenotypes (isolated or combined dystonia with other neurological involvement). However, our understanding of its aetiology is still incomplete. We aimed to elucidate the monogenic causes for the major clinical categories of dystonia. Methods For this exome-wide sequencing study, study participants were identified at 33 movement-disorder and neuropaediatric specialty centres in Austria, Czech Republic, France, Germany, Poland, Slovakia, and Switzerland. Each individual with dystonia was diagnosed in accordance with the dystonia consensus definition. Index cases were eligible for this study if they had no previous genetic diagnosis and no indication of an acquired cause of their illness. The second criterion was not applied to a subset of participants with a working clinical diagnosis of dystonic cerebral palsy. Genomic DNA was extracted from blood of participants and whole-exome sequenced. To find causative variants in known disorder-associated genes, all variants were filtered, and unreported variants were classified according to American College of Medical Genetics and Genomics guidelines. All considered variants were reviewed in expert round-table sessions to validate their clinical significance. Variants that survived filtering and interpretation procedures were defined as diagnostic variants. In the cases that went undiagnosed, candidate dystonia-causing genes were prioritised in a stepwise workflow. Findings We sequenced the exomes of 764 individuals with dystonia and 346 healthy parents who were recruited between June 1, 2015, and July 31, 2019. We identified causative or probable causative variants in 135 (19%) of 728 families, involving 78 distinct monogenic disorders. We observed a larger proportion of individuals with diagnostic variants in those with dystonia (either isolated or combined) with coexisting non-movement disorder-related neurological symptoms (100 [45%] of 222;excepting cases with evidence of perinatal brain injury) than in those with combined (19 [19%] of 98) or isolated (16 [4%] of 388) dystonia. Across all categories of dystonia, 104 (65%) of the 160 detected variants affected genes which are associated with neurodevelopmental disorders. We found diagnostic variants in 11 genes not previously linked to dystonia, and propose a predictive clinical score that could guide the implementation of exome sequencing in routine diagnostics. In cases without perinatal sentinel events, genomic alterations contributed substantively to the diagnosis of dystonic cerebral palsy. In 15 families, we delineated 12 candidate genes. These include IMPDH2, encoding a key purine biosynthetic enzyme, for which robust evidence existed for its involvement in a neurodevelopmental disorder with dystonia. We identified six variants in IMPDH2, collected from four independent cohorts, that were predicted to be deleterious de-novo variants and expected to result in deregulation of purine metabolism. Interpretation In this study, we have determined the role of monogenic variants across the range of dystonic disorders, providing guidance for the introduction of personalised care strategies and fostering follow-up pathophysiological explorations

La face cachée de l'autobiographie

Raconter sa vie, la ressaisir par l’écriture passe aujourd’hui pour une décision qui engage l’autobiographe et lui seul. Confronté au silence, à l’oubli, à la censure, il se présente volontiers comme un héros de la vérité et de la sincérité. Un héros solitaire. En ce sens le genre autobiographique incarne toutes les facettes d’une mutation anthropologique profonde : le triomphe de la société des individus. Or, par un apparent paradoxe, écrire sa vie, ce comble de la singularité, est devenu, dès le XVIe siècle, une exigence ou une sollicitation qui émergent en divers points du monde social occidental. Dans quelles situations le sujet est-il poussé à dévoiler les événements, les expériences et les pensées qui l’ont construit ? Comment les institutions – religion, politique, justice, médecine, sciences de l’esprit et de l’homme social… – se sont-elles emparées du récit de vie comme instrument de connaissance et de contrôle ? L’enquête a réuni anthropologues et historiens. Elle conduit au troublant constat que l’acte autobiographique, loin d’exprimer la pure décision libre, est le plus souvent le résultat d’une injonction, impérative ou négociée, exigeante ou persuasive : « Raconte-moi ta vie »

« Salvare il possibile »

L’événement Après quelques jours de pluies torrentielles, le 4 novembre 1966 vers trois heures du matin, contre toute prévision – ou plutôt au-delà des pires hypothèses qui, la veille au soir, avaient alerté l’armée, la police et les sapeurs-pompiers –, l’Arno inonde Florence avec une violence inouïe. Le concours de circonstances qui conduisit à cette catastrophe est assez extraordinaire. Il y eut d’abord les pluies exceptionnelles qui s’étaient abattues sur tout le bassin de l’Arno et de ses..

Il senso della storia. Saperi diffusi e patrimonializzazione del passato

Cercare il senso della storia è una delle attività centrali dello spirito umano. Individualmente, ognuno di noi ripercorre il proprio passato cercando il filo rosso che lega gli eventi che ha attraversato e i sentimenti che lo hanno agito. Collettivamente, ogni comunità seleziona tappe dei propri trascorsi per legittimare, attraverso origini comuni ed eventi chiave, la propria identità attuale, e proiettarsi in un più o meno immediato futuro. Come se, nel caotico fluire degli avvenimenti, fosse umanamente insopportabile, e ontologicamente inammissibile, l’idea che la nostra storia, dunque la nostra vita, un senso non ce l’ha. Le memorie forti delle società a tempo ciclico, e le memorie deboli – costantemente ri-radicate in un passato remoto – delle società a tempo sagittale sono oggi lo strumento principale di gruppi che attraverso monumenti, narrazioni, commemorazioni, rievocazioni, valorizzazioni e patrimonializzazioni plasmano i propri confini identitari attingendo a piene mani da quella straordinaria risorsa che è il passato. In un simile quadro, vasto e variegato, questo volume indaga campi etnografici che vanno dall’Italia alla Norvegia, dalla Nuova Caledonia a Tahiti, dal Ghana all’Uganda concentrandosi su uno specifico tipo di “patrimonio”: la storia. E ci mostra come intere collettività, dal basso o dall’alto, individuano nella propria storia un patrimonio da condividere, da mettere in scena, da modellare giostrando abilmente sulle frontiere fra oralità e scrittura, fra passato e presente, fra memoria e oblio