169,817 research outputs found
Soil carbon dynamics and Land Use Change assessment in a no-food Mediterranean cropping system
No full textThe understanding of soil carbon dynamics in perennial energy systems is crucial to maintain soil fertility and agro-ecosystem sustainability. The research aims to assess the performances of five agricultural managements on soil organic carbon dynamics in a Mediterranean cropping system of cardoon (LW and HI low and high rate of N fertilizer, LW-B: plus biochar; LW-C: plus cover crop and LW-CB: plus cover crop and biochar). In addition, the impacts in terms of Land Use Change (LUC) due to conversion from biannual (barley to field bean) to cardoon were evaluated. The study was conducted from 2014 to 2017. Soil parameters of Soil Organic Carbon (SOC) content and stock were determined. Furthermore, soil respiration, temperature and moisture were monitored weekly. The best performance was showed by LW-B and LW-C managements since the biochar incorporation provided an important stable C resource that might foster C sequestration contributing to climate change mitigation. N-fixing cover crop use (i.e. subterranean clover) in perennial energy systems might be a successful strategy in terms of soil fertility enhancing and consequently ecosystem services supply. LUC and agricultural management also influenced C dynamics. The conversion of food/feed cropping system to energy one can produced a C stock increase in the soil throughout the entire perennial crop cycle that might be an useful strategy in terms of climate change mitigation
EXOME SEQUENCING APPROACH TO IDENTIFY CAUSATIVE GENES FOR AMYOTROPHIC LATERAL SCLEROSIS
No full textIntroduzione: La Sclerosi laterale amiotrofica (SLA) è una malattia neurodegenerativa progressiva e fatale caratterizzata dalla perdita selettiva dei motoneuroni nella corteccia cerebrale, nel tronco cerebrale e midollo spinale. La maggior parte dei casi è costituita da forme sporadiche, mentre solo il 5-10% dei casi è rappresentato da forme familiari, causate da geni con modalità di trasmissione mendeliana, generalmente autosomica dominante. Sono stati identificati più di 20 geni causativi delle forme familiari, che hanno contribuito a comprendere meglio i meccanismi patogenetici coinvolti e sottolineano la grande eterogeneità genetica della malattia. Nonostante i numerosi progressi raggiunti, in circa il 40% dei casi familiari la causa genetica non è stata ancora identificata, mentre la componente genetica delle forme sporadiche è in gran parte sconosciuta.
L’ applicazione delle tecniche di sequenziamento di nuova generazione ed in particolare il sequenziamento della porzione codificante del genoma o esoma rappresenta un approccio innovativo e promettente per gli studi genetici sulla SLA. Lo scopo del presente progetto di ricerca di Dottorato è stato quello di identificare nuovi geni associati alle forme familiari e sporadiche di SLA mediante sequenziamento dell’esoma come metodo alternativo per superare i limiti delle tecniche genetiche tradizionali.
Metodi: Sono state utilizzate tre diverse strategie per l’identificazione di geni causativi: I) sequenziamento dell’esoma in combinazione con analisi di linkage in due grandi famiglie SLA a trasmissione dominante; II) analisi per varianti rare degli esomi di 363 casi familiari singoli; III) sequenziamento dell’esoma in 32 casi di SLA sporadica e dei loro genitori non affetti (approccio dei trios).
Risultati: I) Attraverso l’approccio combinato di sequenziamento dell’esoma ed analisi di linkage, abbiamo identificato il gene PFN1 (profilina-1), codificante per una proteina implicata nella regolazione dell’actina, come nuovo gene causativo di SLA. Mutazioni a carico del gene PFN1 sono state osservate nel 2,6% dei pazienti SLA familiari e gli studi funzionali condotti sui mutanti hanno dimostrato una maggiore tendenza all’aggregazione, una riduzione del legame all’actina ed un effetto inibitorio sulla crescita assonale.
II) L’analisi delle varianti rare tra casi e controlli, applicata su un totale di 12.495 geni, ha portato all’identificazione di TUBA4A (codificante per lalfa-tubulina 4a) come gene candidato caratterizzato da un eccesso significativo di varianti rare potenzialmente dannose nei 363 casi familiari analizzati. L’analisi funzionale ha dimostrato per i mutanti di TUBA4A una capacità ridotta di dimerizzazione con la beta-tubulina in vitro ed un’alterata incorporazione nei microtubuli in vivo. Inoltre, il mutante tronco TUBA4A p.W407X ha mostrato una maggiore tendenza all’aggregazione.
III) Infine, analizzando l’esoma di 32 pazienti con SLA sporadica e dei loro genitori non affetti, abbiamo identificato 25 mutazioni de novo in 16 dei 32 trios analizzati, con un tasso di mutazioni de novo pari a 0,78. Non sono stati identificati geni con molteplici mutazioni de novo nei trios sequenziati, ma le analisi bioinformatiche hanno mostrato possibili connessioni tra i geni candidati e la classificazione funzionale ha rilevato che le mutazioni de novo sono principalmente a carico di geni codificanti per trasportatori o per proteine con attività regolatoria sulle GTPasi.
Conclusioni: I risultati ottenuti hanno dimostrato che il sequenziamento dell’esoma, applicato con specifiche strategie di studio e di analisi, è un approccio efficace per l’identificazione di nuovi geni causativi nella SLA. La scoperta dei due geni PFN1 e TUBA4A, codificanti per proteine coinvolte nel processo di polimerizzazione dell’actina e dei microtubuli, fornisce ulteriori evidenze a supporto del coinvolgimento del citoscheletro nella patogenesi della SLA.Introduction: Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disorder caused by the loss of motor neurons in the cerebral cortex, brainstem and spinal cord. ALS occurs prevalently as sporadic forms (SALS), but a small proportion of cases (5-10%) displays a positive family history (FALS), generally with an autosomal dominant pattern of inheritance. To date, more than 20 causative genes have been identified in FALS, providing fundamental insights into the pathogenic mechanisms and underlying the great genetic heterogeneity of the disease. Despite these numerous advances, the genetic basis of nearly 40% of FALS remains to be identified, while the genetic component of SALS is largely unknown. A powerful and innovative tool for genetic studies in ALS is represented by next-generation sequencing and in particular by the targeted sequencing of the coding part of the genome or exome.
Aim of this research project was to identify novel genes associated to FALS and SALS by applying complementary approaches all based on exome sequencing, which overcomes the limitations of traditional genetic strategies.
Methods: Three different disease gene identification strategies were applied: I) exome sequencing associated to linkage analysis in two large ALS dominant pedigrees; II) exome-wide rare variant burden analysis on 363 unrelated index FALS cases; III) exome sequencing of 32 SALS and their unaffected parents (trio-design).
Results: I) By performing exome-sequencing in combination with linkage analysis, we identified PFN1 (profilin-1), encoding for a protein regulating actin dynamics, as a novel ALS-causative gene. Mutations in PFN1 were observed in ~2.6% of FALS and functional studies demonstrated aggregation propensity, reduction of actin binding ability and axonal outgrowth inhibition of mutant PFN1 proteins.
II) As a result of the unbiased case-control rare variant analysis, applied on a total 12.495 genes, we identified TUBA4A (Tubulin, Alpha 4a) as candidate gene showing a statistically significant excess of rare damaging variants in 363 index FALS cases sequenced. Functional analysis revealed that ALS-related mutants were defective in forming alpha/beta tubulin dimers in vitro and in incorporating into microtubules in vivo. In addition, the truncated mutant TUBA4A p.W407X showed aggregation propensities.
III) By sequencing the exomes of 32 SALS patients and their unaffected parents, we identified 25 de novo mutations (DNMs) in 16 of 32 trios, with an overall DNM rate of 0.78. Although we did not find recurrently mutated genes in our ALS trios, bionformatic analysis showed potential inter-connections between the candidate genes. Functional classification revealed that DNMs are enriched in genes encoding for proteins involved in transport and in GTPase regulatory activity.
Conclusions: Our findings indicate that exome-sequencing, combined with different strategies for study design and data analysis, is an effective and successful approach for the identification of novel ALS causative genes. The identification of PFN1 and TUBA4A genes, encoding for proteins implicated, respectively, in actin polymerization and microtubule formation, further supports a major role of cytoskeletal defects in ALS pathogenesis
Evaluation of Feasibility and Impact of Attacks against the 6top Protocol in 6TiSCH Networks
No full textThe 6TiSCH architecture has been gaining attraction as a promising solution to ensure reliability and security for communication in applications for the Industrial Internet of Things (IIoT). While many different aspects of the architecture have been investigated in literature, an in-depth analysis of the security features included in its design is still missing. In this paper, we assess the security vulnerabilities of the 6top protocol, a core component of the 6TiSCH architecture for enabling network nodes to negotiate communication resources. Our analysis highlights two possible attacks against the 6top protocol that can impair network performance and reliability in a significant manner. To prove the feasibility of the attacks in practice, we implemented both of them on the Contiki-NG Operating System and tested their effectiveness on a simple deployment with three Zolertia RE-Mote sensor nodes. Also, we carried out a set of simulations using Cooja in order to assess their impact on larger networks. Our results show that both attacks reduce reliability in the overall network and increase energy consumption of the network nodes
Italian debates, studies and experiences concerning reuse projects of dismissed religious heritage
No full textIl saggio inquadra il tema dell'uso e del riuso delle chiese "sovrabbondanti", dismesse, sottoutilizzate e a uso misto nel contesto culturale italiano, mediante una disamina sintetica dei processi storici di dismissione e riuso, della normativa canonica, ecclesiastica, civile e pattizia, del quadro proprietario e giuridico, per arrivare alla lettura di alcuni scenari sociali e socio-economici del rapporto tra patrimonio religioso a rischio di abbandono e territorio
Bryophyte Spores Tolerate High Desiccation Levels and Exposure to Cryogenic Temperatures but Contain Storage Lipids and Chlorophyll: Understanding the Essential Traits Needed for the Creation of Bryophyte Spore Banks
No full textUnderstanding the desiccation and freezing tolerance of bryophyte spores is vital to explain how plants conquered land and current species distribution patterns and help to develop efficient ex situ conservation methods. However, knowledge of these traits is scarce. We investigated tolerance to drying (at 15% relative humidity [RH] for two weeks) and freezing (1 h exposure to liquid nitrogen) on the spores of 12 bryophyte species (23 accessions) from the UK. The presence of storage lipids and their thermal fingerprint, and the levels of unfrozen water content, were determined by differential scanning calorimetry (DSC). The presence of chlorophyll in dry spores was detected by fluorescence microscopy. All species and accessions tested tolerated the drying and freezing levels studied. DSC suggested that 4.1–29.3% of the dry mass is storage lipids, with crystallization and melting temperatures peaking at around −30 °C. Unfrozen water content was determined <0.147 g H(2)O g(−1) dry weight (DW). Most of the spores investigated showed the presence of chlorophyll in the cytoplasm by red autofluorescence. Bryophyte spores can be stored dry at low temperatures, such as orthodox seeds, supporting the creation of bryophyte spore banks. However, the presence of storage lipids and chlorophyll in the cytoplasm may reduce spore longevity during conventional storage at −20 °C. Alternatively, cryogenic spore storage is possible
Loss of Parkin Protein causes abnormal intracellular calcium levels upon glutamatergic stimulation in neuronal cells
No full textThe influence of plantar vault shape on ankle sprain epidemiology in volleyball: preliminary results
No full textObjective.
Ankle sprain is the most common volleyball injury. The aim of this research is to examine the relation between plantar vault shape and the epidemiology of ankle sprain in volleyball players.
Materials and methods.
150 volleyball players (men and women), have been randomly enrolled from division athletes playing in Italy. Anthropometric data (body weight, stature, body mass index) have been collected. To obtain data about ankle sprain, training and competitive activities, a questionnaire has been completed by the athletes. Using a polarized light plantoscope a podoscopic exam has been performed on all the players. Digital images will be record in a database. Data will be analysed using Statistical Program for Social Sciences version 13 for Windows statistical software.
Results.
49% of volleyball players reported at least one ankle sprain injury; 48% of people with standard plantar vault suffered from ankle sprain injuries, while 80% of players with pes cavus, reported sprain injuries.
Conclusions.
Players with cavus plantar vault show almost a double risk of ankle sprain injury with respect to players with standard plantar vault.
References
Briner W, Kacmar L: “Common injuries in volleyball: Mechanisms of injury, prevention and rehabilitation. Sports Med, 24, 65-71, 1997.
Echarri JJ, Forriol F: The development in footprint morphology in 1851 in Congolese children from urban and rural areas, and the relationship between this and wearing shoes. J Pediatr Orthop B, 12, 141-6, 2003.
Verni E, Cucca G, Ensini A, Blasi A, Romagnoli M, Giannini S: I traumi di inversione della tibio/tarsica nello sportivo- Incidenza del morfotipo sulle recidive. Med Sport, 55, 29-37 2002
Calcific tendonitis of the shoulder: reflections upon diagnostic reliability of ultrasound examination in a group of volleyball players
No full textLa tendinopatia calcifica di spalla ha una patogenesi dinamica che si può
associare a sovraccarico funzionale. La diagnosi è in genere ecografica ma
la nota operatore dipendenza insita nella metodica e non univoci criteri
interpretativi possono comportare difformità nella individuazione di depositi
calcifici. In un gruppo di atleti overhead (pallavolisti) si confrontano e si
commentano i risultati diagnostici di due differenti operatori.Calcific Tendonitis has a dynamic pathogenesis, which can be associated
with the overuse of the limb. It is usually diagnosed by ultrasound examination,
but it is also known to be related to the ultrasound operator’s method
and non-univocal interpretation criteria, which may result in misidentification
of calcific deposits. Taking a sample of a overhead athletes’ (Volleyball players)
diagnostic results, obtained by two different operators, will be compared
and commented
A 10 year body composition case study of a 77 year old ultra marathoner
No full textObjective .
The aim of this study is to illustrate the body composition data collected during ten years monitoring of a now 77 years old endurance runner racing continuously in 42 - 100 km long distance race 6 times a year.
Materials and methods.
For 3 times at the distance of 5 years in the last 10 years, anthropometric, bioimpedance analysis, Dual-X absorptiometry data were taken.
Results:
In the first control time the percentage of fat mass decrease of 3%, and the loss of lean
mass is physiological. BCM and BCMI still result very elevated and remains from 10,9 to 9,2. In the second control time, et age 77 ,these values do not show meaningful variations.
The BMD it stays in the ranges of reference.
Conclusions.
Body composition, specifically Body Cell Mass Index appear to be substantially unchanged
BCMI seem to remain.
References.
Goodpaster BH, Costill DL,Trappe SW, Hughes GM: The relationship of sustained exercise training
and bone mineral density in aging male runner. Scand J Med Sci Sports, 6, 216-221, 1996.
Wiswell RA, Hawkins SA, Dreyer HC, Jaque V: Maintenance of BMD in older male runners is independent
of changes in traininig volume or vo2peak, J Gerontol Med Sci, 57, m203-8, 2002
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