Studi di metabonomica basata sull'NMR in medicina sulla sclerosi multipla negli adulti e sull'insufficienza renale neonatale

We present two metabonomic studies: first one is an innovative model to discriminate differents states of pathology in multiple sclerosis based on NMR spectra of cerobrospinal fluid. Second model proposes an NMR based classification of preterm newborn's urine in order to discriminate pathological states connected with kidney disaeses

Neuroimaging, Networking and Systems Biology: The New Way to Investigate Pathologies with Neurological System Implications. The Example of Tourette Syndrome as a Pilot Study

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Metabolomic analysis of plasma from GABAB(1) knock-out mice reveals decreased levels of elaidic trans-fatty acid

Mice lacking the GABAB(1) subunit of gamma-aminobutyric acid (GABA) type B receptors exhibit spontaneous seizures, hyperalgesia, hyperlocomotor activity, and memory impairment. Although mice lacking the GABAB(1) subunit are viable, they are sterile, and to generate knockout (KO) mice, it is necessary to cross heterozygous (HZ) mice. The aim of our study was to detect the metabolic differences between the three genotypes of GABAB(1) KO mice in order to further characterize this experimental animal model. Plasma samples were collected from wild-type (WT), HZ, and KO mice. Samples were analyzed by means of a gas chromatography-mass spectrometry (GC-MS) platform. Univariate t-test, and partial least square discriminant analysis (PLS-DA) were performed to compare the metabolic pattern of different genotypes. The metabolomic analysis highlighted differences between the three genotypes and identified some metabolites less abundant in KO mice, namely elaidic acid and other fatty acids, and chiro-inositol

Metabolomic profile of patients with left ventricular assist devices: a pilot study

Background: Metabolomic profiling has important diagnostic and prognostic value in heart failure (HF). We investigated whether left ventricular assist device (LVAD) support has an impact on the metabolomic profile of chronic HF patients and if specific metabolic patterns are associated with the development of adverse events. Methods: We applied untargeted metabolomics to detect and analyze molecules such as amino acids, sugars, fatty acids and other metabolites in plasma samples collected from thirty-three patients implanted with a continuous-flow LVAD. Data were analyzed at baseline, i.e., before implantation of the LVAD, and at long-term follow-up. Results: Our results reveal significant changes in the metabolomic profile after LVAD implant compared to baseline. In detail, we observed a pre-implant reduction in amino acid metabolism (aminoacyl-tRNA biosynthesis) and increased galactose metabolism, which reversed over the course of support [median follow-up 187 days (63–334 days)]. These changes were associated with improved patient functional capacity driven by LVAD therapy, according to NYHA functional classification of HF (NYHA class I-II: pre-implant =0% of the patients; post-implant =97% of the patients; P<0.001). Moreover, patients who developed adverse thromboembolic events (n=4, 13%) showed a pre-operative metabolomic fingerprint mainly associated with alterations of fatty acid biosynthesis and mitochondrial beta-oxidation of short-chain saturated fatty acids. Conclusions: Our data provide preliminary evidence that LVAD therapy is associated with changes in the metabolomic profile of HF and suggest the potential use of metabolomics as a new tool to stratify LVAD patients in regard to the risk of adverse events

Metabolomic approach to profile functional and metabolic changes in heart failure

Heart failure (HF) is characterized by a series of adaptive changes in energy metabolism. The use of metabolomics enables the parallel assessment of a wide range of metabolites. In this study, we appraised whether metabolic changes correlate with HF severity, assessed as an impairment of functional contractility, and attempted to interpret the role of metabolic changes in determining systolic dysfunction

Far UV responsivity of commercial silicon photodetectors

Abstract Responsivity measurements have been performed on commercial silicon photodetectors in the UV range 200–400 nm. The microstrip and pixel detectors have been reverse biased in fully depleted condition (more than 25 V reverse bias) and in partially depleted condition (5 V reverse bias). We have also performed measurements in back illumination geometry, of particular interest in most industrial applications. Promising results obtained with commercial photodetectors in the UV range in terms of photocurrent stability and sensitivity open a variety of applications

SINONASAL TUMOURS WITH ORBITAL INVOLVEMENT: THE COMBINED APPROACH

Advanced sinonasal tumours often present with orbital involvement. Surgical treatment and radical excision are also possible, preserving the eye. Oncological safety and functional outcome of the preserved eye are the counterpart in orbital preservation surgery. Irrespective of the orbital invasion, tumour histology influences the prognosis. Surgical approaches to the orbit in sinonasal tumour are divided in anterior and posterolateral procedures. The combined transfacial and trancranial surgical approaches have been well described in the literature for craniofacial resection, when the anterior or medium skull base are involved. Multidisciplinary collaboration with microscopic and/or endoscopic control have improved surgical technique to extirpate tumours extended to dura, spehenopalatine area and pterygomaxilmary fissure, infratemporal fossa, roof of nasopharynx and apex of orbit. We describe the multiphase combined surgical approach with maxillofacial, otolaryngology and neurosurgical collaboration in sinonasal tumour treatment

Neuroimaging, Networking and Systems Biology: The New Way to Investigate Pathologies with Neurological System Implications. The example of Tourette Syndrome as a Pilot Study

Purpose: Recently, many academic research groups have focused their attention on changes in human brain networks related to several kinds of pathologies and diseases, generating the new discipline termed “Network Medicine”. Purpose of this paper is to investigate the ability of the Network Medicine to give deeper insights in the functionality of brain activity. Material and Methods: In the proposed study of Tourette syndrome, we have investigated with the functional magnetic resonance imaging the possibility that the mechanisms associated with the monitoring and internal control of movements were compromised in individuals with Tourette syndrome; we enrolled 20 Tourette Syndrome patients in comparison with a healthy Controls group of 15 subjects matching for age and sex distribution. We proposed, for the fMRI analysis, a novel task based on the execution of switching between complex movements on demand. Results: The elementary activation model found that the effort related to the task in comparing Tourettic vs Controls mainly concerns the areas of the Gyrus of the Cingulum, the precuneus and the thalamic area of the ventral-lateral nucleus. In particular, the BA11 plays an essential role in the Tourette Patients related to the continue tentative to correct the TIC. Considering the status of the pilot study of this work, we remark the power of proposed methods to investigate the complex interaction of the brain networks. Conclusion: Alteration in brain activity for a population of Tourette Syndrome patients is evaluable by the use of complex indexes, results confirm the literature about this pathology and these medical physics methods can be applied to all neurological diseases investigation by opportune task-driven experiments or by resting state fc-MRI experiments

The Urine Metabolome of Young Autistic Children Correlates with Their Clinical Profile Severity

Autism diagnosis is moving from the identification of common inherited genetic variants to a systems biology approach. The aims of the study were to explore metabolic perturbations in autism, to investigate whether the severity of autism core symptoms may be associated with specific metabolic signatures; and to examine whether the urine metabolome discriminates severe from mild-to-moderate restricted, repetitive, and stereotyped behaviors. We enrolled 57 children aged 2–11 years; thirty-one with idiopathic autism and twenty-six neurotypical (NT), matched for age and ethnicity. The urine metabolome was investigated by gas chromatography-mass spectrometry (GC-MS). The urinary metabolome of autistic children was largely distinguishable from that of NT children; food selectivity induced further significant metabolic dierences. Severe autism spectrum disorder core deficits were marked by high levels of metabolites resulting from diet, gut dysbiosis, oxidative stress, tryptophan metabolism, mitochondrial dysfunction. The hierarchical clustering algorithm generated two metabolic clusters in autistic children: 85–90% of children with mild-to-moderate abnormal behaviors fell in cluster II. Our results open up new perspectives for the more general understanding of the correlation between the clinical phenotype of autistic children and their urine metabolome. Adipic acid, palmitic acid, and 3-(3-hydroxyphenyl)-3-hydroxypropanoic acid can be proposed as candidate biomarkers of autism severity