Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy

Because hyper-excitability has been shown to be a shared pathophysiological mechanism, we used the latest and largest genome-wide studies in amyotrophic lateral sclerosis (n = 36,052) and epilepsy (n = 38,349) to determine genetic overlap between these conditions. First, we showed no significant genetic correlation, also when binned on minor allele frequency. Second, we confirmed the absence of polygenic overlap using genomic risk score analysis. Finally, we did not identify pleiotropic variants in meta-analyses of the 2 diseases. Our findings indicate that amyotrophic lateral sclerosis and epilepsy do not share common genetic risk, showing that hyper-excitability in both disorders has distinct origins

Case studies of Walkerswood Community Development Foundation and August Town Community Council

This paper presents two case studies of the Walkerswood Community Development Foundation and the August Town Community Council. Data for this study were collected between the months of June and July and comprise essentially of interviews and documentary sources. The study does not pretend to be a comprehensive or an exhaustive one. Its intention is merely to examine some of the experiences of the two community councils over the years, with the aim of suggesting some plausible explanations for their various f allures and successes. Finally, arising out the analysis, the study puts forward some recommendations

L'ombra delle 'colonne infami'. La letteratura e l'ingiustizia del capro espiatorio

La letteratura moderna, in particolare nei capolavori, tra gli altri, di Manzoni, Camus, Steinbeck presi in considerazione nel presente volume, con la capacità di iscriversi nelle coscienze che è propria della grande narrativa, ha posto sotto gli occhi e dentro la mente del lettore le crudeli devastazioni della antica e perversa dinamica alla base della costruzione del capro espiatorio e dei riti sacrificali. Specie di quelli che rivestano le pratiche persecutorie col manto legittimo e rispettabile del diritto e del processo penale. Dinamica che in René Girard ha trovato uno dei suoi massimi diagnosti e di cui il libro invita a fare dolente ma salutare esperienza, calandosi negli abissi più oscuri dell’animo umano, non senza riemergerne con possibili prospettive di giustizia e antidoti culturali e regolativi idonei a portare alla luce, contrastare o almeno contenere la formidabile spinta alla ricerca di vittime su cui illusoriamente scaricare colpe e nodi irrisolti da individui, istituzioni e collettività. Nella Storia della colonna infame di Alessandro Manzoni, da cui non a caso si è tratta ispirazione per il titolo del volume, il meccanismo del capro espiatorio trova il suo unico punto di rottura nella figura di Gasparo Migliavacca che, come Cristo in Girard, rifiuta di espandere la furia sacrificale evitando ulteriori chiamate di correità. Senza il suo esempio – come si legge nel libro – l’uomo sarebbe costretto a negare la Provvidenza o ad accu¬sarla, cioè si troverebbe vincolato all’interno di un dualismo incapace di dare una risposta al problema dell’esistenza del male. [Risvolto di copertina

Cyclic vomiting syndrome in children. a nationwide survey of current practice on behalf of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP)

Cyclic Vomiting Syndrome (CVS) is a rare functional gastrointestinal disorder, which has a considerable burden on quality of life of both children and their family. Aim of the study was to evaluate the diagnostic modalities and therapeutic approach to CVS among Italian tertiary care centers and the differences according to subspecialties, as well as to explore whether potential predictive factors associated with either a poor outcome or a response to a specific treatment

Additional file 8 of Cyclic vomiting syndrome in children: a nationwide survey of current practice on behalf of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP)

Additional file 8: Supplementary Table 8. Long-term outcomes identified among patients with cyclic vomiting syndrome according to specific outpatient clinic

Additional file 3 of Cyclic vomiting syndrome in children: a nationwide survey of current practice on behalf of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP)

Additional file 3: Supplementary Table 3. Comorbidities recorded among patients with cyclic vomiting syndrome according to specific outpatient clinic

Additional file 1 of Cyclic vomiting syndrome in children: a nationwide survey of current practice on behalf of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP)

Additional file 1: Supplementary Table 1. Web-based Questionnaire [original language]

Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy

Because hyper-excitability has been shown to be a shared pathophysiological mechanism, we used the latest and largest genome-wide studies in amyotrophic lateral sclerosis (n = 36,052) and epilepsy (n = 38,349) to determine genetic overlap between these conditions. First, we showed no significant genetic correlation, also when binned on minor allele frequency. Second, we confirmed the absence of polygenic overlap using genomic risk score analysis. Finally, we did not identify pleiotropic variants in meta-analyses of the 2 diseases. Our findings indicate that amyotrophic lateral sclerosis and epilepsy do not share common genetic risk, showing that hyper-excitability in both disorders has distinct origins