365 research outputs found

    2D-3D registration of CT vertebra volume to fluoroscopy projection: A calibration model assessment (doi:10.1155/2010/806094)

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    This study extends a previous research concerning intervertebral motion registration by means of 2D dynamic fluoroscopy to obtain a more comprehensive 3D description of vertebral kinematics. The problem of estimating the 3D rigid pose of a CT volume of a vertebra from its 2D X-ray fluoroscopy projection is addressed. 2D-3D registration is obtained maximising a measure of similarity between Digitally Reconstructed Radiographs (obtained from the CT volume) and real fluoroscopic projection. X-ray energy correction was performed. To assess the method a calibration model was realised a sheep dry vertebra was rigidly fixed to a frame of reference including metallic markers. Accurate measurement of 3D orientation was obtained via single-camera calibration of the markers and held as true 3D vertebra position; then, vertebra 3D pose was estimated and results compared. Error analysis revealed accuracy of the order of 0.1 degree for the rotation angles of about 1?mm for displacements parallel to the fluoroscopic plane, and of order of 10?mm for the orthogonal displacement.<br/

    MOLECULAR CHARACTERIZATION OF FACTORS WHICH CAN INFLUENCE THE REPRODUCTIVE SUCCESS OF CATTLE

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    My PhD project addressed the paternal and maternal contribution associated with correct early embryonic development, focusing on microRNAs (miRNAs, short non-coding RNAs regulating gene expression at post-transcriptional level) involved in controlling reproductive function in cattle. To this end, next generation sequencing (NGS) methods and bioinformatic analysis pipelines were set up and validated using low quantities of starting materials, e.g. blastocysts and oocytes. The role of miRNAs carried by spermatozoa during early embryogenesis was investigated by assessing in vitro produced blastocysts from semen of bulls with high and low blastocyst rates. Moreover, follicular fluid and oocyte miRNAs were analyzed in order to unravel molecular mechanisms involved in poor fertility cows. In particular, a model based on low and high antral follicle count ovaries was used to study the influence of ovarian function on oocyte developmental competence. The results indicated that: 1) sperm miRNAs may impact embryo developmental competence affecting the expression of gene networks involved in several cellular processes including cell adhesion, communication and metabolism of the blastocyst; 2) the different oocyte quality is associated with a different miRNA blueprint in both follicular fluids and oocytes through the mis-regulation of biological processes critical for oocyte competence. In conclusion, these studies contributed to improve our knowledge on the function of miRNAs in the sperm, oocytes and pre-implantation embryos. Several miRNAs were identified as potential biomarkers of blastocyst and oocyte competences, which will be valuable to optimize Reproductive Biotechnologies

    De novo 1q21.3q22 duplication revaluation in a “cold” complex neuropsychiatric case with syndromic intellectual disability

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    Syndromic intellectual disability often obtains a genetic diagnosis due to the combination of first and next generation sequencing techniques, although their interpretation may require revaluation over the years. Here we report on a composite neuropsychiatric case whose phenotype includes moderate intellectual disability, spastic paraparesis, movement disorder, and bipolar disorder, harboring a 1.802 Mb de novo 1q21.3q22 duplication. The role of this duplication has been reconsidered in the light of negativity of many other genetic exams, and of the possible pathogenic role of many genes included in this duplication, potentially configuring a contiguous gene-duplication syndrome

    Focusing on autism spectrum disorder in xia–gibbs syndrome: Description of a female with high functioning autism and literature review

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    Background: Xia–Gibbs syndrome (XGS) is a rare disorder caused by de novo mutations in the AT-Hook DNA binding motif Containing 1 (AHDC1) gene, which is characterised by a wide spectrum of clinical manifestations, including global developmental delay, intellectual disability, structural abnormalities of the brain, global hypotonia, feeding problems, sleep difficulties and apnoea, facial dysmorphisms, and short stature. Methods: Here, we report on a girl patient who shows a peculiar cognitive and behavioural profile including high-functioning autism spectrum disorder (ASD) without intellectual disability and provide information on her developmental trajectory with the aim of expanding knowledge of the XGS clinical spectrum. On the basis of the current clinical case and the literature review, we also attempt to deepen understanding of behavioural and psychiatric manifestations associated with XGS. Results: In addition to the patient we described, a considerable rate of individuals with XGS display autistic symptoms or have been diagnosed with an autistic spectrum disorder. Moreover, the analysis of the few psychopathological profiles of patients with XGS described in the literature shows a frequent presence of aggressive and self-injurious behaviours that could be either an expression of autistic functioning or an additional symptom of the ASD evolution. A careful investigation of the abovementioned symptoms is therefore required, since they could represent a “red flag” for ASD

    A Detailed Study of Rainbow Trout (Onchorhynchus mykiss) Intestine Revealed That Digestive and Absorptive Functions Are Not Linearly Distributed along Its Length

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    To increase the sustainability of trout farming,the industry requires alternatives to \ufb01sh-based meals that do not compromise animal health and growth performances. To develop new feeds, detailed knowledge of intestinal morphology and physiology is required. We performed histological, histochemical, immunohistochemical and morphometric analysis at typical time points of in vivo feeding trials (50, 150 and 500 g). Only minor changes occurred during growth whereas di\ufb00erences characterized two compartments, not linearly distributed along the intestine. The \ufb01rst included the pyloric caeca, the basal part of the complex folds and the villi of the distal intestine. This was characterized by a signi\ufb01cantly smaller number of goblet cells with smaller mucus vacuoles, higher proliferation and higher apoptotic rate but a smaller extension of fully di\ufb00erentiated epithelial cells and by the presence of numerous pinocytotic vacuolization. The second compartment was formed by the proximal intestine and the apical part of the posterior intestine complex folds. Here we observed more abundant goblet cells with bigger vacuoles, low proliferation rate, few round apoptotic cells, a more extended area of fully di\ufb00erentiated cells and no pinocytotic vacuoles. Our results suggest that rainbow trout intestine is physiologically arranged to mingle digestive and absorptive functions along its lengt

    Proteinuria in focal segmental glomerulosclerosis: role of circulating factors and therapeutic approach.

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    The clinical course of primary Focal Segmental Glomerulosclerosis (FSGS) is frequently complicated by nephrotic range proteinuria and progression to renal failure. The high recurrence rate of the disease in transplanted kidney suggests the hypothesis that such patients have a circulating factor that alters glomerular capillary permeability. In recent years some authors found that serum from patients with FSGS increases glomerular permeability to albumin and partially identified the permeability factor (PF) as a protein of 30-50 Kd m.w. The removal of this protein by means of Plasma Exchange (PE) or plasma Immunoadsorption by Protein A (IA) decreased proteinuria. In this report we provide preliminary data about the prevalence of PF and the therapeutic effect of its removal by IA, in 3 pts with recurrence in the transplanted kidney, and 4 with FSGS of the native kidneys. They were resistant to corticosteroids (CS) and immunosuppressive (IS) therapy. 10 IA sessions were performed in 4 weeks: if a remission was achieved IA was gradually tapered. The level of PF in the serum was measured by an in vitro assay to determine the glomerular permeability to albumin. The FSGS was histologically proven in all cases and the degree of evolution was evaluated. PF levels, serum creatinine, daily proteinuria and serum albumin were monitored. The 3 patients with recurrent FSGS had a normalization of the PF levels; 2 had a clinical remission. In FSGS of native kidneys PF was elevated in 3/4 cases; 1 had a clinical remission; 2 with extensive sclerohyalinosis and 1 without PF levels did not improve. Our results confirm that most patients with FSGS have high PF serum levels and suggest that its removal can be beneficial

    Implications of miRNA expression pattern in bovine oocytes and follicular fluids for developmental competence

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    Developmental competence determines the oocyte capacity to support initial embryo growth, but the molecular mechanisms underlying this phenomenon are still ill-defined. Changes in microRNA (miRNA) expression pattern have been described during follicular growth in several species. Therefore, aim of this study was to investigate whether miRNA expression pattern in cow oocyte and follicular fluid (FF) is associated with the acquisition of developmental competence. Samples were collected from ovaries with more than, or fewer than, 10 mid-antral follicles (H- and L-ovaries) because previous studies demonstrated that this parameter is a reliable predictor of oocyte competence. After miRNA deep sequencing and bioinformatic data analysis, we identified 58 miRNAs in FF and 6 in the oocyte that were differentially expressed between H- and L-ovaries. Overall, our results indicate that miRNA levels both in FF and in the ooplasm must remain within specific thresholds and that changes in either direction compromising oocyte competence. Some of the miRNAs found in FF (miR-769, miR-1343, miR-450a, miR-204, miR-1271 and miR-451) where already known to regulate follicle growth and their expression pattern indicate that they are also involved in the acquisition of developmental competence. Some miRNAs were differentially expressed in both compartments but with opposite patterns, suggesting that miRNAs do not flow freely between FF and oocyte. Gene Ontology analysis showed that the predicted gene targets of most differentially expressed miRNAs are part of a few signalling pathways. Regulation of maternal mRNA storage and mitochondrial activity seem to be the processes more functionally relevant in determining oocyte quality. In conclusion, our data identified a few miRNAs in the follicular fluid and in the ooplasm that modulate the oocyte developmental competence. This provides new insights that could help with the management of cattle reproductive efficiency

    Stochastic learning in a neural network with adapting synapses

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    We consider a neural network with adapting synapses whose dynamics can be analitically computed. The model is made of NN neurons and each of them is connected to KK input neurons chosen at random in the network. The synapses are nn-states variables which evolve in time according to Stochastic Learning rules; a parallel stochastic dynamics is assumed for neurons. Since the network maintains the same dynamics whether it is engaged in computation or in learning new memories, a very low probability of synaptic transitions is assumed. In the limit NN\to\infty with KK large and finite, the correlations of neurons and synapses can be neglected and the dynamics can be analitically calculated by flow equations for the macroscopic parameters of the system.Comment: 25 pages, LaTeX fil

    Molecular Coancestry and Classical Genetic Distances Depict Different Patterns of Relationship Among Sheep Breeds from Southern Italy

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    Several molecular-based parameters, such as similarity indexes, can be adopted to optimize the management of genetic diversity in conservation programmes. From simulated data, Oliehoek et al. (2006) showed that molecular coancestry (Toro et al., 2002) is, among the possible relatedness estimators, the one that performs better in structured populations, such as populations in need of conservation usually are. Several studies have, therefore, proposed the use of molecular coancestry coefficients as a measure of genetic variability and as a useful tool for conservation of endangered breeds (Ciampolini et al., 2007; Glowatzki-Mullis et al., 2009). Here we report the results obtained evaluating within- and between-breed molecular coancestry (Toro et al., 2002), together with other classical genetic parameters, for two insular sheep breeds (Sarda from Sardinia and Comisana from Sicily), recently spread almost all over Italy, and for five local rare sheep breeds from Southern Italy
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