The "rural houses" in Torviscosa (Udine, Italy): from construction to abandonment.

The paper provides a detailed study of the rural houses in the surroundings of Torviscosa, company-town of the XX century, a tool for possible processes of enhancement, restoration and retrofitting. | L'articolo fornisce uno studio dettagliato delle case agricolenei dintorni di Torviscosa, citt\ue0-societ\ue0 del XX secolo, strumento per possibili processi di valorizzazione, restauro e riqualificazione

Clinical features and lifestyle of patients with amyotrophic lateral sclerosis in Campania: brief overview of an Italian database

Background. Physical activity and occupational exposures appeared to play a relevant role in pathogenesis of amyotrophic lateral sclerosis (ALS), a neurodegenerative disease of unknown origin. Materials and methods. We aimed to make an overview of the clinical characteristics and life - style (occupation and sport) of a population of 395 patients with ALS from campania, in southern Italy. Results. ALS onset resulted anticipated of about 11 years in industry workers, whilst the more frequent site of onset among farmers was upper limbs. compared to non-athletes, athletes, particu- larly soccer players, showed a 7 years anticipation of ALS onset, with higher mortality after 5 years. Discussion and conclusions. We suggest that subjects genetically prone to abnormal response to hy - poxia during strenuous physical activity or exposed to neurotoxic agents, such as athletes, farmers or industry workers, might present increased risk to develop ALS. Future case-control and follow-up studies on our population should be implemented to deepen the present results. Riassunto (Caratteristiche cliniche e stile di vita di pazienti con sclerosi laterale amiotrofica in Campania: breve panoramica di un database italiano). Introduzione. Attivita fisica ed esposizione professionale a sostanze tossiche sembrano svolgere un ruolo rilevante nella patogenesi della sclerosi laterale amiotrofica (SLA), una malattia neurodegenerativa di origine sconosciuta. Materiali e metodi. ci siamo proposti di effettuare una panoramica delle caratteristiche cliniche e dello stile di vita (attivita lavorativa e sport) di una popolazione di 395 pazienti affetti da SLA provenienti dalla regione campania, in Italia meridionale. Risultati. L'insorgenza della SLA e risultata anticipata di circa 11 anni nei lavoratori dell'industria, mentre il sito piu frequente di insorgenza tra i contadini era caratterizzato dagli arti superiori. Rispetto ai non- sportivi, gli sportivi, soprattutto i calciatori, hanno mostrato un'anticipazione di 7 anni nell'insorgenza della SLA, con maggiore mortalita a 5 anni. Discussione e conclusioni. Abbiamo ipotizzato che i soggetti geneticamente predisposti a risposte anomale all'ipossia durante l'attivita fisica intensa o esposti ad agenti neurotossici, come gli sportivi, gli agricoltori o i lavoratori dell'industria, possano presentare un aumen - tato rischio di sviluppare la SLA. Futuri studi caso-controllo e di follow-up sulla nostra popolazione dovrebbero essere effettuati per approfondire i risultati attuali

Recognition of the early building elements characteristics in the company town of Torviscosa (NE Italy) outlining authenticity issues toward its preservation.

L'articolo tratta di una ricerca in corso volta a delineare aspetti relativi all'autenticit\ue0 del patrimonio edilizio della citt\ue0-fabbrica di Torviscosa (Italia NE), in relazione alle caratteristiche degli elementi costruttivi di primo impianto. Partendo dallo studio dei documenti d'archivio e da una campagna di sopralluoghi dettagliata, \ue8 stato intrapreso un lavoro di mappatura, con l'obiettivo di evidenziare gli elementi originali di una tipologia residenziale importante (Case dei lavoratori, M01) che, a seguito di ripetuti e incoerenti interventi di adeguamento, sono stati profondamente manomessi o, semplicemente, eliminati, ponendo le basi per la valutazione degli interventi di conservazione. | The paper deals about an ongoing research aiming in outlining authenticity issues of the company town of Torviscosa (NE Italy) built heritage, as related to the early building elements characteristics. Starting from the study of archive documents and detailed surveyed, a mapping work was undertaken with the aim of re-emerging the original elements of a relevant residential typology (Workers\u2019 Houses M01) that, following repeated and inconsistent retrofitting interventions, have been deeply tampered or just eliminated, putting the bases for the evaluation of preservation interventions to be

Il territorio costruito di Torviscosa: la citt\ue0-fabbrica e gli insediamenti agricoli.

I lavori di costruzione della citt\ue0 di Torviscosa, insediamento industriale per la produzione di cellulosa, iniziano nel 1937, diventando un simbolo della politica autarchica del Regime. In un'area di recente bonifica, l'azienda SNIA avvia, in pochi mesi, un'industria di trasformazione della canna gigante in fibre tessili artificiali. Franco Marinotti, responsabile dell'iniziativa, commissiona il progetto per la fabbrica, la citt\ue0 e gli insediamenti agricoli all'architetto Giuseppe De Min, che realizza "in the middle of nowhere" una serie di edifici industriali in mattoni rossi e grandi finestre, spazi comuni metafisici, edifici residenziali ripetuti per i lavoratori (impiegati, operai, ...), e insediamenti agricoli, che rimandano alla ricerca contemporanea sull'architettura rurale italiana di Pagano e Daniel. L'esame delle fonti bibliografiche e archivistiche, la letteratura e il rilievo degli "edifici seriali" contribuiscono a delineare un quadro di riferimento per la conoscenza del territorio costruito di Torviscosa, verso un uso culturale che, superando le barriere dell'immagine del regime fascista, permetta di valorizzare gli spazi, gli edifici, le tecniche e i materiali di un progetto sospeso tra architettura moderna e contemporanea. | The construction works of the Torviscosa company town, an industrial settlement far the production of cellulose, began in 1937, becoming a symbol o fthe Regime's autarchic policies. In an area of recent land reclamation, the SNIA company sets up, in just I O months, an industry far the transformation of giant cane into artificial textile fibres. Franco Marinotti, head of the initiative, commissioned the project far the factory, the town and the agricultural settlements to the architect Giuseppe De Min, who realised 'in the middle of nowhere' a series of industrial buildings in red brick and large windows, metaphysical common spaces, repeated residential buildings for the workers (clerks, labourers, .. .), and agricultural settlements which refer to the contemporary research on Italian rural architecture by Pagano and Daniel. The examination of bibliographic and archival sources, the literature, and the survey of serial buildings contribute to outline a reference framework far the knowledge of the built environment of Torviscosa, towards a cultural use which, overcoming the barriers of the image of fascist regime, allows to enhance the spaces, buildings, techniques and materials of a project suspended between Modern and contemporary architecture

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for ~40% of familial amyotrophic lateral sclerosis cases of European ancestry. The aim of the current article was to describe the phenotype of amyotrophic lateral sclerosis cases carrying the expansion by providing a detailed clinical description of affected cases from representative multi-generational kindreds, and by analysing the age of onset, gender ratio and survival in a large cohort of patients with familial amyotrophic lateral sclerosis. We collected DNA and analysed phenotype data for 141 index Italian familial amyotrophic lateral sclerosis cases (21 of Sardinian ancestry) and 41 German index familial amyotrophic lateral sclerosis cases. Pathogenic repeat expansions were detected in 45 (37.5%) patients from mainland Italy, 12 (57.1%) patients of Sardinian ancestry and nine (22.0%) of the 41 German index familial amyotrophic lateral sclerosis cases. The disease was maternally transmitted in 27 (49.1%) pedigrees and paternally transmitted in 28 (50.9%) pedigrees (P = non-significant). On average, children developed disease 7.0 years earlier than their parents [children: 55.8 years (standard deviation 7.9), parents: 62.8 (standard deviation 10.9); P = 0.003]. Parental phenotype influenced the type of clinical symptoms manifested by the child: of the 13 cases where the affected parent had an amyotrophic lateral sclerosis-frontotemporal dementia or frontotemporal dementia, the affected child also developed amyotrophic lateral sclerosis-frontotemporal dementia in nine cases. When compared with patients carrying mutations of other amyotrophic lateral sclerosis-related genes, those with C9ORF72 expansion had commonly a bulbar onset (42.2% compared with 25.0% among non-C9ORF72 expansion cases, P = 0.03) and cognitive impairment (46.7% compared with 9.1% among non-C9ORF72 expansion cases, P = 0.0001). Median survival from symptom onset among cases carrying C9ORF72 repeat expansion was 3.2 years lower than that of patients carrying TARDBP mutations (5.0 years; 95% confidence interval: 3.6-7.2) and longer than those with FUS mutations (1.9 years; 95% confidence interval: 1.7-2.1). We conclude that C9ORF72 hexanucleotide repeat expansions were the most frequent mutation in our large cohort of patients with familial amyotrophic lateral sclerosis of Italian, Sardinian and German ancestry. Together with mutation of SOD1, TARDBP and FUS, mutations of C9ORF72 account for ~60% of familial amyotrophic lateral sclerosis in Italy. Patients with C9ORF72 hexanucleotide repeat expansions present some phenotypic differences compared with patients with mutations of other genes or with unknown mutations, namely a high incidence of bulbar-onset disease and comorbidity with frontotemporal dementia. Their pedigrees typically display a high frequency of cases with pure frontotemporal dementia, widening the concept of familial amyotrophic lateral sclerosis

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.

It has been recently reported that a large proportion of patients with familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are associated with a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We have assessed 1757 Italian sporadic ALS cases, 133 from Sardinia, 101 from Sicily, and 1523 from mainland Italy. Sixty (3.7%) of 1624 mainland Italians and Sicilians and 9 (6.8%) of the 133 Sardinian sporadic ALS cases carried the pathogenic repeat expansion. None of the 619 regionally matched control samples (1238 chromosomes) carried the expansion. Twenty-five cases (36.2%) had behavioral FTD in addition to ALS. FTD or unspecified dementia was also detected in 19 pedigrees (27.5%) in first-degree relatives of ALS patients. Cases carrying the C9ORF72 hexanucleotide expansion survived 1 year less than cases who did not carry this mutation. In conclusion, we found that C9ORF72 hexanucleotide repeat expansions represents a sizeable proportion of apparent sporadic ALS in the Italian and Sardinian population, representing by far the most common mutation in Italy and the second most common in Sardinia