Congenital mirror movements in a new Italian family

Mirror movements (MMs) occur on the contralateral side of a limb being used intentionally. Because few families with congenital MMs and no other neurological signs have been reported, the underlying mechanisms of MMs are still not entirely clear. We report on the clinical, genetic, neurophysiological and neuroimaging findings of 10 of 26 living members of a novel four-generation family with congenital MMs. DCC and RAD51 were sequenced in affected members of the family. Five of the ten subjects with MMs underwent neurophysiological and neuroimaging evaluations. The neurophysiological evaluation consisted of electromyographic (EMG) mirror recordings, investigations of corticospinal excitability, and analysis of interhemispheric inhibition using transcranial magnetic stimulation techniques. The neuroimaging evaluation included functional MRI during finger movements. Eight (all females) of the ten members examined presented MMs of varying degrees at the clinical assessment. Transmission of MMs appears to have occurred according to an autosomal-dominant fashion with variable expression. No mutation in DCC or RAD51 was identified. EMG mirror activity was higher in MM subjects than in healthy controls. Short-latency interhemispheric inhibition was reduced in MM subjects. Ipsilateral motor-evoked potentials were detectable in the most severe case. The neuroimaging evaluation did not disclose any significant abnormalities in MM subjects. The variability of the clinical features of this family, and the lack of known genetic abnormalities, suggests that MMs are heterogeneous disorders. The pathophysiological mechanisms of MMs include abnormalities of transcallosal inhibition and corticospinal decussatio

Replica symmetry breaking in mean field spin glasses trough Hamilton-Jacobi technique

During the last years, through the combined effort of the insight, coming from physical intuition and computer simulation, and the exploitation of rigorous mathematical methods, the main features of the mean field Sherrington-Kirkpatrick spin glass model have been firmly established. In particular, it has been possible to prove the existence and uniqueness of the infinite volume limit for the free energy, and its Parisi expression, in terms of a variational principle, involving a functional order parameter. Even the expected property of ultrametricity, for the infinite volume states, seems to be near to a complete proof. The main structural feature of this model, and related models, is the deep phenomenon of spontaneous replica symmetry breaking (RSB), discovered by Parisi many years ago. By expanding on our previous work, the aim of this paper is to investigate a general frame, where replica symmetry breaking is embedded in a kind of mechanical scheme of the Hamilton-Jacobi type. Here, the analog of the "time" variable is a parameter characterizing the strength of the interaction, while the "space" variables rule out quantitatively the broken replica symmetry pattern. Starting from the simple cases, where annealing is assumed, or replica symmetry, we build up a progression of dynamical systems, with an increasing number of space variables, which allow to weaken the effect of the potential in the Hamilton-Jacobi equation, as the level of symmetry braking is increased. This new machinery allows to work out mechanically the general K-step RSB solutions, in a different interpretation with respect to the replica trick, and lightens easily their properties as existence or uniqueness.Comment: 24 pages, no figure

Biocompounds recovery from Spirulina by conventional and ohmic heating methodologies: chemical and biological properties

Extracting the totality of bio-compounds with industrial interest from Cyanobacterium is often prevented by the intrinsic rigidity of its cell wall. In this sense, the present study focuses on evaluating the influence thermal batch extraction (conventional extraction technologies) and ohmic heating (OH) assisted extraction (considered a greener alternative technology) in blue green microalgae Arthrospira platensis (Spirulina) cell disruption for bioactive fractions recovery. The proximal composition of Spirulina was initially determined. The maximum protein content (i.e., CPhycocyanin), total carbohydrates (TC) and total phenolic compounds (TPC) extracted in water at different times (30-120 min) and temperatures (30-51 ºC) was quantified after the conventional and OH- assisted extraction. The freeze-thawing process was used as control. The antioxidant activity (i.e., FRAP and DPPH assays) of the obtained extracts was assessed. Results showed that with the freeze-thawing process, traditionally used for the recovery of bio- compounds from Spirulina, the concentration of C-phycocyanin was approx. 42 mg/g of Spirulina, 26 mgGlcE/g Spirulina of TC and 9 mgGAE/g Spirulina of TPC. Using OH-assisted extraction, the maximum of C-Phycocyanin content obtained was 45 mg/g of Spirulina (obtained at 37 ºC, 30 min), the maximum carbohydrates content was 40 mgGlcE/g Spirulina and the maximum TPC was 10 mgGAE/g Spirulina. On the other hand, using conventional thermal treatment it can be observed that, under the same conditions, the bioactive compounds recovery decreased to 35 mg/g, 20 mgGlcE/g Spirulina for C-phycocyanin concentration and TC (p<0.05), respectively. The concentration in phenolic compounds is not so affected, but even so the ohmic heating potentiates the extraction of these secondary metabolites. The antioxidant activity of the extracts there was not different between conventional treatments andOH. Thus, the results indicated that OH is a good alternative to conventional methods aiming at the extraction of intracellular components with a decrease in processing time and energy costs associated with the extraction process, which together with an easy upscale make OH an interesting methodology for use in the industrial production of microalgae colorants and bioactive supplements.info:eu-repo/semantics/publishedVersio

Ferromagnetic models for cooperative behavior: Revisiting Universality in complex phenomena

Ferromagnetic models are harmonic oscillators in statistical mechanics. Beyond their original scope in tackling phase transition and symmetry breaking in theoretical physics, they are nowadays experiencing a renewal applicative interest as they capture the main features of disparate complex phenomena, whose quantitative investigation in the past were forbidden due to data lacking. After a streamlined introduction to these models, suitably embedded on random graphs, aim of the present paper is to show their importance in a plethora of widespread research fields, so to highlight the unifying framework reached by using statistical mechanics as a tool for their investigation. Specifically we will deal with examples stemmed from sociology, chemistry, cybernetics (electronics) and biology (immunology).Comment: Contributing to the proceedings of the Conference "Mathematical models and methods for Planet Heart", INdAM, Rome 201

Granzyme B expression in visceral adipose tissue associates with local inflammation and glyco-metabolic alterations in obesity

Granzyme B (GrB) is a serine protease produced by immune and non-immune cells, able to promote multiple processes, like apoptosis, inflammation, extracellular matrix remodeling and fibrosis. GrB expression in visceral adipose tissue (VAT) was associated with tissue damage, local inflammation and insulin resistance in obesity murine model, but there is no data in humans. Aim of this study was to explore the expression of GrB in VAT from obese subjects in relation to adipose tissue injury, inflammation, metabolic alterations and GrB circulating levels. For this purpose, 85 obese individuals undergoing bariatric surgery and 35 healthy subjects (as control) were recruited at Sapienza University, Rome, Italy. Study participants underwent clinical work-up and routine biochemistry. mRNA expression of GrB in VAT and of a panel of VAT inflammatory markers was analyzed by real-time PCR. Serum GrB levels were measured by Elisa Affymetrix EBIO. We observed that 80% of obese patients expressed GrB mRNA in VAT, and GrB VAT expression was associated with the presence of local inflammation and glucose homeostasis alterations. Moreover, GrB serum levels, which were higher in obese subjects compared to non-obese healthy individuals, were associated with GrB expression in VAT and glyco-metabolic impairment. Our data show, for the first time in humans, that obese subjects with “sick” fat and altered glucose tolerance exhibit GrB expression in VAT, and suggest that GrB might contribute to obesity-related VAT inflammatory remodeling and glucose homeostasis dysregulation. Moreover, increased circulating GrB levels might represent a possible peripheral marker of VAT dysfunction in metabolic diseases

Mean-field cooperativity in chemical kinetics

We consider cooperative reactions and we study the effects of the interaction strength among the system components on the reaction rate, hence realizing a connection between microscopic and macroscopic observables. Our approach is based on statistical mechanics models and it is developed analytically via mean-field techniques. First of all, we show that, when the coupling strength is set positive, the model is able to consistently recover all the various cooperative measures previously introduced, hence obtaining a single unifying framework. Furthermore, we introduce a criterion to discriminate between weak and strong cooperativity, based on a measure of "susceptibility". We also properly extend the model in order to account for multiple attachments phenomena: this is realized by incorporating within the model $p$-body interactions, whose non-trivial cooperative capability is investigated too.Comment: 25 pages, 4 figure

The Italian tremor Network (TITAN): rationale, design and preliminary findings.

INTRODUCTION: The recently released classification has revised the nosology of tremor, defining essential tremor (ET) as a syndrome and fueling an enlightened debate about some newly conceptualized entities such as ET-plus. As a result, precise information of demographics, clinical features, and about the natural history of these conditions are lacking. METHODS: The ITAlian tremor Network (TITAN) is a multicenter data collection platform, the aim of which is to prospectively assess, according to a standardized protocol, the phenomenology and natural history of tremor syndromes. RESULTS: In the first year of activity, 679 patients have been recruited. The frequency of tremor syndromes varied from 32% of ET and 41% of ET-plus to less than 3% of rare forms, including focal tremors (2.30%), task-specific tremors (1.38%), isolated rest tremor (0.61%), and orthostatic tremor (0.61%). Patients with ET-plus were older and had a higher age at onset than ET, but a shorter disease duration, which might suggest that ET-plus is not a disease stage of ET. Familial aggregation of tremor and movement disorders was present in up to 60% of ET cases and in about 40% of patients with tremor combined with dystonia. The body site of tremor onset was different between tremor syndromes, with head tremor being most commonly, but not uniquely, associated with dystonia. CONCLUSIONS: The TITAN study is anticipated to provide clinically relevant prospective information about the clinical correlates of different tremor syndromes and their specific outcomes and might serve as a basis for future etiological, pathophysiological, and therapeutic research

Artificial intelligence of imaging and clinical neurological data for predictive, preventive and personalized (P3) medicine for Parkinson Disease: the NeuroArtP3 protocol for a multi-center research study

Background The burden of Parkinson Disease (PD) represents a key public health issue and it is essential to develop innovative and cost-effective approaches to promote sustainable diagnostic and therapeutic interventions. In this perspective the adoption of a P3 (predictive, preventive and personalized) medicine approach seems to be pivotal. The NeuroArtP3 (NET-2018-12366666) is a four-year multi-site project co-funded by the Italian Ministry of Health, bringing together clinical and computational centers operating in the field of neurology, including PD. Objective The core objectives of the project are: i) to harmonize the collection of data across the participating centers, ii) to structure standardized disease-specific datasets and iii) to advance knowledge on disease’s trajectories through machine learning analysis. Methods The 4-years study combines two consecutive research components: i) a multi-center retrospective observational phase; ii) a multi-center prospective observational phase. The retrospective phase aims at collecting data of the patients admitted at the participating clinical centers. Whereas the prospective phase aims at collecting the same variables of the retrospective study in newly diagnosed patients who will be enrolled at the same centers. Results The participating clinical centers are the Provincial Health Services (APSS) of Trento (Italy) as the center responsible for the PD study and the IRCCS San Martino Hospital of Genoa (Italy) as the promoter center of the NeuroartP3 project. The computational centers responsible for data analysis are the Bruno Kessler Foundation of Trento (Italy) with TrentinoSalute4.0 –Competence Center for Digital Health of the Province of Trento (Italy) and the LISCOMPlab University of Genoa (Italy). Conclusions The work behind this observational study protocol shows how it is possible and viable to systematize data collection procedures in order to feed research and to advance the implementation of a P3 approach into the clinical practice through the use of AI models

Broadband Dielectric Spectroscopy on Human Blood

Dielectric spectra of human blood reveal a rich variety of dynamic processes. Achieving a better characterization and understanding of these processes not only is of academic interest but also of high relevance for medical applications as, e.g., the determination of absorption rates of electromagnetic radiation by the human body. The dielectric properties of human blood are studied using broadband dielectric spectroscopy, systematically investigating the dependence on temperature and hematocrit value. By covering a frequency range from 1 Hz to 40 GHz, information on all the typical dispersion regions of biological matter is obtained. We find no evidence for a low-frequency relaxation (alpha-relaxation) caused, e.g., by counterion diffusion effects as reported for some types of biological matter. The analysis of a strong Maxwell-Wagner relaxation arising from the polarization of the cell membranes in the 1-100 MHz region (beta-relaxation) allows for the test of model predictions and the determination of various intrinsic cell properties. In the microwave region beyond 1 GHz, the reorientational motion of water molecules in the blood plasma leads to another relaxation feature (gamma-relaxation). Between beta- and gamma-relaxation, significant dispersion is observed, which, however, can be explained by a superposition of these relaxation processes and is not due to an additional delta-relaxation often found in biological matter. Our measurements provide dielectric data on human blood of so far unsurpassed precision for a broad parameter range. All data are provided in electronic form to serve as basis for the calculation of the absorption rate of electromagnetic radiation and other medical purposes. Moreover, by investigating an exceptionally broad frequency range, valuable new information on the dynamic processes in blood is obtained.Comment: 17 pages, 9 figure