A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state

Submicroscopic chromosomal anomalies play an important role in the etiology of craniofacial malformations, including midline facial defects with hypertelorism (MFDH). MFDH is a common feature combination in several conditions, of which Frontonasal Dysplasia is the most frequently encountered manifestation; in most cases the etiology remains unknown. We identified a parent to child transmission of a 6.2 Mb interstitial deletion of chromosome region 2q36.1q36.3 by array-CGH and confirmed by FISH and microsatellite analysis. The patient and her mother both presented an MFDH phenotype although the phenotype in the mother was much milder than her daughter. Inspection of haplotype segregation within the family of 2q36.1 region suggests that the deletion arose on a chromosome derived from the maternal grandfather. Evidences based on FISH, microsatellite and array-CGH analysis point to a high frequency mosaicism for presence of a deleted region 2q36 occurring in blood of the mother. The frequency of mosaicism in other tissues could not be determined. We here suggest that the milder phenotype observed in the proband's mother can be explained by the mosaic state of the deletion. This most likely arose by an early embryonic deletion in the maternal embryo resulting in both gonadal and somatic mosaicism of two cell lines, with and without the deleted chromosome. The occurrence of gonadal mosaicism increases the recurrence risk significantly and is often either underestimated or not even taken into account in genetic counseling where new mutation is suspected. (C) 2012 Elsevier Masson SAS. All rights reserved.

Development and optimization of biodegradable films based on achira flour

The influence of glycerol concentration (C-g), process temperature (T-p), drying temperature (T-s), and relative humidity (RH) on the properties of achira flour films was initially assessed. The optimized process conditions were C-g of 17g glycerol/100g flour, T-p of 90 degrees C, T-s of 44.8 degrees C, and RH of 36.4%. The films produced under these conditions displayed high mechanical strength (7.0 MPa), low solubility (38.3%). and satisfactory elongation values (14.6%). This study showed that achira flour is a promising source for the development of biodegradable films with good mechanical properties, low water vapor permeability, and solubility compared to films based on other tubers. (c) 2011 Elsevier Ltd. All rights reserved.

Cassava starch biodegradable films: Influence of glycerol and clay nanoparticles content on tensile and barrier properties and glass transition temperature

In this this study, glycerol content and its incorporation method on tensile and barrier properties of biodegradable films (BF) based on cassava starch were analyzed. ANOVA showed that the glycerol incorporation method did not influence the results (P > 0.05), however the glycerol content influenced significantly the tensile and barrier properties of the films (P < 0.05). Films prepared with lower glycerol content presented better tensile and barrier properties than films with higher content. Films were then prepared with addition of clay nanoparticles and their tensile and barrier properties and glass transition temperature were measured. ANOVA indicated that both glycerol and clay nanoparticles influenced significantly the tensile and barrier properties (P < 0.05), diminishing film permeability when clay nanoparticles were present, while the glass transition temperature was not influenced (P > 0.05). (C) 2011 Elsevier Ltd. All rights reserved.

Late clinical outcomes after implantation of drug-eluting stents coated with biodegradable polymers: 3-year follow-up of the PAINT randomised trial

Aims: The long-term clinical performance of drug-eluting stents (DES) coated with biodegradable polymers is poorly known. Methods and results: A total of 274 coronary patients were randomly allocated to paclitaxel-eluting stents, sirolimus-eluting stents, or bare metal stems (2:2:1 ratio). The two DES used the same biodegradable polymers and were identical except for the drug. At three years, the pooled DES population had similar rates of cardiac death or myocardial infarction (9.0% vs. 7.1; p=0.6), but lower risk of repeat interventions (10.0% vs. 29.9%; p<0.01) than controls with bare stents. The cumulative 3-year incidence of definite or probable stent thrombosis in the pooled DES group was 2.3% (first year: 1.8%; second year: 0.4%; third year: zero). There were no significant differences in outcomes between paclitaxel- and sirolimus-eluting stents. Conclusions: The biodegradable-polymer coated DES releasing either paclitaxel or sirolimus were effective in reducing the 3-year rate of re-interventions.

Differences in walking attainment ages between low-risk preterm and healthy full-term infants

Objective: To compare gross motor development of preterm infants (PT) without cerebral palsy with healthy full-term (FT) infants, according to Alberta Infant Motor Scale (AIMS); to compare the age of walking between PT and FT; and whether the age of walking in PT is affected by neonatal variables. Methods: Prospective study compared monthly 101 PT and 52 FT, from the first visit, until all AIMS items had been observed. Results: Mean scores were similarity in their progression, except from the eighth to tenth months. FT infants were faster in walking attainment than PT. Birth weight and length and duration of neonatal nursery stay were related to walking delay. Conclusion: Gross motor development between PT and FT were similar, except from the eighth to tenth months of age. PT walked later than FT infants and predictive variables were birth weight and length, and duration of neonatal intensive unit stay.

Electrophysiological study of hearing in full-term small-for-gestational-age newborns

PURPOSE: To describe the Brainstem Auditory Evoked Potential (BAEP) results of full-term small-for-gestational-age newborns, comparing them to the results of full-term appropriate-for-gestational-age newborns, in order to verify whether the small-for-gestational-age condition is a risk indicator for retrocochlear hearing impairment. METHODS: This multicentric prospective cross-sectional study assessed 86 full-term newborns - 47 small- (Study Group) and 39 appropriate-for-gestational-age (Control Group - of both genders, with ages between 2 and 12 days. Newborns with presence of transient evoked otoacoustic emissions and type A tympanometry were included in the study. Quantitative analysis was based on the mean and standard deviation of the absolute latencies of waves I, III and V and interpeak intervals I-III, III-V and I-V, for each group. For qualitative analysis, the BAEP results were classified as normal or altered by analyzing these data considering the age range of the newborn at the time of testing. RESULTS: In the Study Group, nine of the 18 (38%) subjects with altered BAEP results had the condition of small-for-gestational-age as the only risk factor for hearing impairments. In the Control Group, seven (18%) had altered results. Female subjects from the Study Group tended to present more central alterations. In the Control Group, the male group tended to have more alterations. CONCLUSION: Full-term children born small or appropriate for gestational age might present transitory or permanent central hearing impairments, regardless of the presence of risk indicators.

A model and an algebra for semi-structured and full-text queries

The need for a convergence between semi-structured data management and Information Retrieval techniques is manifest to the scientific community. In order to fulfil this growing request, W3C has recently proposed XQuery Full Text, an IR-oriented extension of XQuery. However, the issue of query optimization requires the study of important properties like query equivalence and containment; to this aim, a formal representation of document and queries is needed. The goal of this thesis is to establish such formal background. We define a data model for XML documents and propose an algebra able to represent most of XQuery Full-Text expressions. We show how an XQuery Full-Text expression can be translated into an algebraic expression and how an algebraic expression can be optimized.

Biometanazione della frazione organica di rifiuti solidi urbani da raccolta indifferenziata mediante codigestione con refluo zootecnico o addizione di solfuro di sodio

Il presente elaborato è stato finalizzato allo sviluppo di un processo di digestione anaerobica della frazione organica dei rifiuti solidi urbani (FORSU oppure, in lingua inglese OFMSW, Organic Fraction of Municipal Solid Waste) provenienti da raccolta indifferenziata e conseguente produzione di biogas da impiegarsi per il recupero energetico. Questo lavoro rientra nell’ambito di un progetto, cofinanziato dalla Regione Emilia Romagna attraverso il Programma Regionale per la Ricerca Industriale, l’Innovazione e il Trasferimento Tecnologico (PRRIITT), sviluppato dal Dipartimento di Chimica Applicata e Scienza dei Materiali (DICASM) dell’Università di Bologna in collaborazione con la Facoltà di Ingegneria dell’Università di Ferrara e con la società Recupera s.r.l. che applicherà il processo nell’impianto pilota realizzato presso il proprio sito di biostabilizzazione e compostaggio ad Ostellato (FE). L’obiettivo è stato la verifica della possibilità di impiegare la frazione organica dei rifiuti indifferenziati per la produzione di biogas, e in particolare di metano, attraverso un processo di digestione anaerobica previo trattamento chimico oppure in codigestione con altri substrati organici facilmente fermentabili. E’ stata inoltre studiata la possibilità di impiego di reattori con biomassa adesa per migliorare la produzione specifica di metano e diminuire la lag phase. Dalla sperimentazione si può concludere che è possibile giungere allo sviluppo di metano dalla purea codigerendola assieme a refluo zootecnico. Per ottenere però produzioni significative la quantità di solidi volatili apportati dal rifiuto non deve superare il 50% dei solidi volatili complessivi. Viceversa, l’addizione di solfuri alla sola purea si è dimostrata ininfluente nel tentativo di sottrarre gli agenti inibitori della metanogenesi. Inoltre, l’impiego di supporti di riempimento lavorando attraverso processi batch sequenziali permette di eliminare, nei cicli successivi al primo, la lag phase dei batteri metanogeni ed incrementare la produzione specifica di metano.

Spectral-Element and Adjoint 3D Full-Wave Tomography for the Lithosphere of Central Italy

The primary objective of this thesis is to obtain a better understanding of the 3D velocity structure of the lithosphere in central Italy. To this end, I adopted the Spectral-Element Method to perform accurate numerical simulations of the complex wavefields generated by the 2009 Mw 6.3 L’Aquila event and by its foreshocks and aftershocks together with some additional events within our target region. For the mainshock, the source was represented by a finite fault and different models for central Italy, both 1D and 3D, were tested. Surface topography, attenuation and Moho discontinuity were also accounted for. Three-component synthetic waveforms were compared to the corresponding recorded data. The results of these analyses show that 3D models, including all the known structural heterogeneities in the region, are essential to accurately reproduce waveform propagation. They allow to capture features of the seismograms, mainly related to topography or to low wavespeed areas, and, combined with a finite fault model, result into a favorable match between data and synthetics for frequencies up to ~0.5 Hz. We also obtained peak ground velocity maps, that provide valuable information for seismic hazard assessment. The remaining differences between data and synthetics led us to take advantage of SEM combined with an adjoint method to iteratively improve the available 3D structure model for central Italy. A total of 63 events and 52 stations in the region were considered. We performed five iterations of the tomographic inversion, by calculating the misfit function gradient - necessary for the model update - from adjoint sensitivity kernels, constructed using only two simulations for each event. Our last updated model features a reduced traveltime misfit function and improved agreement between data and synthetics, although further iterations, as well as refined source solutions, are necessary to obtain a new reference 3D model for central Italy tomography.

Modellazione di processo in impianti di depurazione urbana finalizzata allo sviluppo di linee guida progettuali. Simulazioni e confronti su dati HERA full - scale.

Gli impianti di depurazione rappresentano, nei contesti urbani, elementi di imprescindibile importanza nell’ambito di una corretta gestione e tutela della risorsa idrica e dell’ambiente. Il crescente grado di antropizzazione delle aree urbanizzate e parallelamente le sempre minori disponibilità in termini di spazi utilizzabili a fini depurativi comportano sempre di più la necessità di ottimizzare i processi di dimensionamento degli impianti. Inoltre, l’obiettivo di aumentare l’efficienza del ciclo depurativo andando a minimizzare i costi correlati alla gestione degli stessi indirizza verso una omogeneizzazione nei criteri di dimensionamento adottati. In questo senso, la normativa tecnica di settore risulta carente, andandosi a concentrare prevalentemente sul rispetto di fissati standard ambientali senza però fornire indicazioni precise sui criteri di progettazione da adottare per perseguire tali standard. La letteratura scientifica pur indicando range di possibili valori di riferimento da adottare, nel dimensionamento degli impianti, lascia un ampio margine di discrezionalità al progettista. La presente tesi si pone pertanto, a partire da tali valori di letteratura, di andare a definire da un lato le caratteristiche quali-quantitative del refluo in ingresso e dall’altro i valori di riferimento da adottare in sede di progettazione per perseguire gli obiettivi precedentemente indicati. La prima parte, di valenza generale, oltre alla caratterizzazione dell’influente descrive nel dettaglio le diverse fasi del processo e il loro dimensionamento che in tutte le sezioni, ad eccezione del biologico, viene effettuato attraverso equazioni semplificate mettendo a confronto e analizzando i parametri progettuali proposti da letteratura. Per quanto riguarda il comparto biologico la maggior complessità del fenomeno da descrivere rende difficile la valutazione delle grandezze che caratterizzano il funzionamento mediante l’utilizzo di equazioni semplificate. Per questo si è deciso di modellare questo comparto, unito a quello della sedimentazione, attraverso un software (WEST) che permette non solo di simulare il processo ma anche, attraverso le analisi di scenario, di determinare quelli che sono i valori progettuali puntuali che consentono di ottenere da un lato una minimizzazione dei costi dell’impianto, sia costruttivi che gestionali, e dall’altro la massimizzazione delle rese depurative. Nello specifico si è fatto riferimento ad impianto fanghi attivi a schema semplificato con potenzialità fissata pari a 10000 AE. Il confronto con i dati di esercizio di alcuni impianti di analoga tipologia ha evidenziato che una buona capacità dello strumento di modellazione utilizzato di descrivere i processi. E’ possibile quindi concludere che tali strumenti, affiancati ad una lettura critica dei risultati ottenuti possono essere ottimi strumenti di supporto sia in fase di progettazione che in prospettiva di gestione dell’impianto al fine di ottimizzare i processi e quindi i costi.