A 5-year clinical follow-up study from the Italian National Registry for FSHD.

BACKGROUND: The natural history of facioscapulohumeral muscular dystrophy (FSHD) is undefined. METHODS: An observational cohort study was conducted in 246 FSHD1 patients. We split the analysis between index cases and carrier relatives and we classified all patients using the Comprehensive Clinical Evaluation Form (CCEF). The disease progression was measured as a variation of the FSHD score performed at baseline and at the end of 5-year follow-up (ΔFSHD score). FINDINGS: Disease worsened in 79.4% (112/141) of index cases versus 38.1% (40/105) of carrier relatives and advanced more rapidly in index cases (ΔFSHD score 2.3 versus 1.2). The 79.1% (38/48) of asymptomatic carriers remained asymptomatic. The highest ΔFSHD score (1.7) was found in subject with facial and scapular weakness at baseline (category A), whereas in subjects with incomplete phenotype (facial or scapular weakness, category B) had lower ΔFSHD score (0.6) p < 0.0001. CONCLUSIONS: The progression of disease is different between index cases and carrier relatives and the assessment of the CCEF categories has strong prognostic effect in FSHD1 patients

Efficacy of canakinumab in patients with Still's disease across different lines of biologic therapy: real-life data from the International AIDA Network Registry for Still's Disease

Introduction: The effectiveness of canakinumab may change according to the different times it is used after Still's disease onset. This study aimed to investigate whether canakinumab (CAN) shows differences in short- and long-term therapeutic outcomes, according to its use as different lines of biologic treatment.Methods: Patients included in this study were retrospectively enrolled from the AutoInflammatory Disease Alliance (AIDA) International Registry dedicated to Still's disease. Seventy-seven (51 females and 26 males) patients with Still's disease were included in the present study. In total, 39 (50.6%) patients underwent CAN as a first-line biologic agent, and the remaining 38 (49.4%) patients were treated with CAN as a second-line biologic agent or subsequent biologic agent.Results: No statistically significant differences were found between patients treated with CAN as a first-line biologic agent and those previously treated with other biologic agents in terms of the frequency of complete response (p =0.62), partial response (p =0.61), treatment failure (p &gt;0.99), and frequency of patients discontinuing CAN due to lack or loss of efficacy (p =0.2). Of all the patients, 18 (23.4%) patients experienced disease relapse during canakinumab treatment, 9 patients were treated with canakinumab as a first-line biologic agent, and nine patients were treated with a second-line or subsequent biologic agent. No differences were found in the frequency of glucocorticoid use (p =0.34), daily glucocorticoid dosage (p =0.47), or concomitant methotrexate dosage (p =0.43) at the last assessment during CAN treatment.Conclusion: Canakinumab has proved to be effective in patients with Still's disease, regardless of its line of biologic treatment

Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.

Facioscapulohumeral muscular dystrophy (FSHD) is a myopathy with prevalence of 1 in 20,000. Almost all patients affected by FSHD carry deletions of an integral number of tandem 3.3 kilobase repeats, termed D4Z4, located on chromosome 4q35. Assessment of size of D4Z4 alleles is commonly used for FSHD diagnosis. However, the extended molecular testing has expanded the spectrum of clinical phenotypes. In particular, D4Z4 alleles with 9-10 repeat have been found in healthy individuals, in subjects with FSHD or affected by other myopathies. These findings weakened the strict relationship between observed phenotypes and their underlying genotypes, complicating the interpretation of molecular findings for diagnosis and genetic counseling. In light of the wide clinical variability detected in carriers of D4Z4 alleles with 9-10 repeats, we applied a standardized methodology, the Comprehensive Clinical Evaluation Form (CCEF), to describe and characterize the phenotype of 244 individuals carrying D4Z4 alleles with 9-10 repeats (134 index cases and 110 relatives). The study shows that 54.5% of index cases display a classical FSHD phenotype with typical facial and scapular muscle weakness, whereas 20.1% present incomplete phenotype with facial weakness or scapular girdle weakness, 6.7% display minor signs such as winged scapula or hyperCKemia, without functional motor impairment, and 18.7% of index cases show more complex phenotypes with atypical clinical features. Family studies revealed that 70.9% of relatives carrying 9-10 D4Z4 reduced alleles has no motor impairment, whereas a few relatives (10.0%) display a classical FSHD phenotype. Importantly all relatives of index cases with no FSHD phenotype were healthy carriers. These data establish the low penetrance of D4Z4 alleles with 9-10 repeats. We recommend the use of CCEF for the standardized clinical assessment integrated by family studies and further molecular investigation for appropriate diagnosis and genetic counseling. Especially in presence of atypical phenotypes and/or sporadic cases with all healthy relatives is not possible to perform conclusive diagnosis of FSHD, but all these cases need further studies for a proper diagnosis, to search novel causative genetic defects or investigate environmental factors or co-morbidities that may trigger the pathogenic process. These evidences are also fundamental for the stratification of patients eligible for clinical trials. Our work reinforces the value of large genotype-phenotype studies to define criteria for clinical practice and genetic counseling in rare diseases

High Risk of Secondary Infections Following Thrombotic Complications in Patients With COVID-19

Background. This study’s primary aim was to evaluate the impact of thrombotic complications on the development of secondary infections. The secondary aim was to compare the etiology of secondary infections in patients with and without thrombotic complications. Methods. This was a cohort study (NCT04318366) of coronavirus disease 2019 (COVID-19) patients hospitalized at IRCCS San Raffaele Hospital between February 25 and June 30, 2020. Incidence rates (IRs) were calculated by univariable Poisson regression as the number of cases per 1000 person-days of follow-up (PDFU) with 95% confidence intervals. The cumulative incidence functions of secondary infections according to thrombotic complications were compared with Gray’s method accounting for competing risk of death. A multivariable Fine-Gray model was applied to assess factors associated with risk of secondary infections. Results. Overall, 109/904 patients had 176 secondary infections (IR, 10.0; 95% CI, 8.8–11.5; per 1000-PDFU). The IRs of secondary infections among patients with or without thrombotic complications were 15.0 (95% CI, 10.7–21.0) and 9.3 (95% CI, 7.9–11.0) per 1000-PDFU, respectively (P = .017). At multivariable analysis, thrombotic complications were associated with the development of secondary infections (subdistribution hazard ratio, 1.788; 95% CI, 1.018–3.140; P = .043). The etiology of secondary infections was similar in patients with and without thrombotic complications. Conclusions. In patients with COVID-19, thrombotic complications were associated with a high risk of secondary infections

I wanted to feel the way they did: Mimesis as a situational dynamic of peer mentoring by ex-offenders

This is an Accepted Manuscript of an article published by Taylor & Francis in Deviant Behavior on 10/10/2016, available online: http://www.tandfonline.com/doi/full/10.1080/01639625.2016.1237829Despite growing enthusiasm for peer mentoring as a criminal justice intervention, very little is known about what actually happens within these relationships. Drawing on an ethnographic study of peer mentoring in the North of England this article will foreground the concept of inspiration” in these settings. It will argue that Rene Girard’s theory of mimesis offers a framework with which to analyze role modeling in mentoring relationships and that a Girardian reading also offers interesting insights into the unresolved problem of the origins of personal change

Giochi sociologici. Conflitto, cultura, immaginazione

Gli autori indagano il fenomeno del gioco da un punto di vista nuovo: il gioco \ue8 l\u2019occasione per analizzare gli aspetti meno evidenti delle relazioni sociali. Sono presentati quattro giochi sociologici - \u201cTotem e trib\uf9\u201d, \u201cGreci e Persiani\u201d, \u201cAgor\ue0\u201d e \u201cIl crollo\u201d-, da fare insieme all\u2019interno di organizzazioni, \ue9quipe di ricerca, uffici. Sono giochi per creare occasioni di immaginazione, per governare l\u2019emergere di conflittualit\ue0 latenti. Sulla base degli studi sociologici pi\uf9 aggiornati, il testo valorizza la capacit\ue0 umana di mettersi in gioco, di partecipare alle dinamiche relazionali, evitando di nascondersi dietro l\u2019alibi dell\u2019imbarazzo o dell\u2019incompetenza

Sans r\ueave et sans merci. Il sacro oggi

Studio sul Sacr

Dizionario di sociologia per la persona

Il dizionario è un opera collettiva dedicata alla comprensione di categorie sociologiche e fenomeni sociali frutto di una precisa scelta di campo centrata sul concetto di persona.The dictionary is a collective work dedicated to the understanding of sociological categories and social phenomena resulting from a precise choice of field centered on the concept of person

Il risentimento e il desiderio mimetico. A partire da René Girard

In this article I aim to contribute to an investigation on René Girard’s Mimetic Theory analysis of ressentiment. René Girard recognized that Friedrich Nietzsche’s idea of ressentiment had a major role in many of analysis of the twentieth century. In particular, The Genealogy of Morals of Friedrich Nietzsche and the concept of ressentiment influenced Max Scheler interpretation of bourgeois morality and Max Weber perspective of sociology of religion. Nietzsche asserts that there is a complete and necessary coincidence between to take side of the victim and being part of a religion of ressentiment. The mimetic theory of René Girard provides us with a way to take the challenges that are made by The Genealogy of Morals and the Scheler’s, Weber’s following theoretical investigations. René Girard, more than anyone else, has wondered about the crucial node that Nietzsche has scrutinized for ressentiment, that is, the relationship between the foundations of social order and desire. By emphasizing the mimetic dimension of the human condition and searching it for the fundamental characteristics of the relationships that inform our social life, René Girard has thrown light on the social and anthropological warp and weft of the human condition in general and of the processes of affirmation of Judeo-Christian tradition