Deep learning: a turning point in acute neurology

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White Matter Microstructure Breakdown in the Motor Neuron Disease Spectrum: Recent Advances Using Diffusion Magnetic Resonance Imaging

Motor neuron disease (MND) is a fatal progressive neurodegenerative disorder characterized by the breakdown of the motor system. The clinical spectrum of MND encompasses different phenotypes classified according to the relative involvement of the upper or lower motor neurons (LMN) and the presence of genetic or cognitive alterations, with clear prognostic implications. However, the pathophysiological differences of these phenotypes remain largely unknown. Recently, magnetic resonance imaging (MRI) has been recognized as a helpful in-vivo MND biomarker. An increasing number of studies is applying advanced neuroimaging techniques in order to elucidate the pathophysiological processes and to identify quantitative outcomes to be used in clinical trials. Diffusion tensor imaging (DTI) is a non-invasive method to detect white matter alterations involving the upper motor neuron and extra-motor white matter tracts. According to this background, the aim of this review is to highlight the key role of MRI and especially DTI, summarizing cross-sectional and longitudinal results of different approaches applied in MND. Current literature suggests that DTI is a promising tool in order to define anatomical “signatures” of the different phenotypes of MND and to track in vivo the progressive spread of pathological proteins aggregates

Resting state functional connectivity alterations in primary lateral sclerosis

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Voxel-based morphometry and task functional magnetic resonance imaging in essential tremor: evidence for a disrupted brain network

The pathophysiology of essential tremor (ET) is controversial and might be further elucidated by advanced neuroimaging. Focusing on homogenous ET patients diagnosed according to the 2018 consensus criteria, this study aimed to: (1) investigate whether task functional MRI (fMRI) can identify networks of activated and deactivated brain areas, (2) characterize morphometric and functional modulations, relative to healthy controls (HC). Ten ET patients and ten HC underwent fMRI while performing two motor tasks with their upper limb: (1) maintaining a posture (both groups); (2) simulating tremor (HC only). Activations/deactivations were obtained from General Linear Model and compared across groups/tasks. Voxel-based morphometry and linear regressions between clinical and fMRI data were also performed. Few cerebellar clusters of gray matter loss were found in ET. Conversely, widespread fMRI alterations were shown. Tremor in ET (task 1) was associated with extensive deactivations mainly involving the cerebellum, sensory-motor cortex, and basal ganglia compared to both tasks in HC, and was negatively correlated with clinical tremor scales. Homogeneous ET patients demonstrated deactivation patterns during tasks triggering tremor, encompassing a network of cortical and subcortical regions. Our results point towards a marked cerebellar involvement in ET pathophysiology and the presence of an impaired cerebello-thalamo-cortical tremor network

A novel GRN mutation in an Italian patient with non-fluent variant of primary progressive aphasia at onset: a longitudinal case report

ObjectivesWe report the clinical presentation and evolution of a case with a novel Progranulin gene (GRN) mutation and non-fluent language disturbances at onset.Materials and methodsA 60 year-old, white patient was followed due to a history of language disturbances. Eighteen months after onset, the patient underwent FDG positron emission tomography (PET), and at month 24 was hospitalized to perform neuropsychological evaluation, brain 3 T MRI, lumbar puncture for cerebrospinal fluid (CSF) analysis, and genotyping. At month 31, the patient repeated the neuropsychological evaluation and brain MRI.ResultsAt onset the patient complained prominent language production difficulties, such as effortful speech and anomia. At month 18, FDG-PET showed left fronto-temporal and striatal hypometabolism. At month 24, the neuropsychological evaluation reported prevalent speech and comprehension deficits. Brain MRI reported left fronto-opercular and striatal atrophy, and left frontal periventricular white matter hyperintensities (WMHs). Increased CSF total tau level was observed. Genotyping revealed a new GRN c.1018delC (p.H340TfsX21) mutation. The patient received a diagnosis of non-fluent variant of primary progressive aphasia (nfvPPA). At month 31, language deficits worsened, together with attention and executive functions. The patient presented also with behavioral disturbances, and a progressive atrophy in the left frontal-opercular and temporo-mesial region.Discussion and conclusionThe new GRN p.H340TfsX21 mutation resulted in a case of nfvPPA characterized by fronto-temporal and striatal alterations, typical frontal asymmetric WMHs, and a fast progression toward a widespread cognitive and behavioral impairment, which reflects a frontotemporal lobar degeneration. Our findings extend the current knowledge of the phenotypic heterogeneity among GRN mutation carriers

Energy efficiency survey of the Ganado Advocates offices

The Green Energy Committee within GANADO Advocates has been working on a number of initiatives to enhance the energy efficiency of its office building in Valletta. Following major renovation to the law firm’s offices, it was deemed appropriate to carry out an energy audit to identify steps that can be taken to save on energy and enable the law firm to become ‘greener’. The audit was made possible thanks to the collaboration between the law firm and the Institute for Sustainable Energy of the University of Malta. A specific training activity under the auspices of the project entitled: “Renewable Energy Scenarios in Islands (R.E.S.I.), co-financed by the Operative Programme Italy-Malta 2007-2013, and led by the Province of Ragusa, Italy, has enabled the exchange of scientists, engineers and architects between Italy and the Institute in Malta. The energy audit was carried out in November 2012 and focused on the building envelope, energy consumption and lighting, as well as the potential of installing renewable energy systems. The study provided solutions to a number of issues that were identified during the survey, some of which have already been implemented.Bajada New Energy, General Membrane, EcoGroup, Econetique, Energy Investment, JMV Vibro Blocks, Solar Engineering, Solar Solutionspeer-reviewe

Sexual and Reproductive Health and Education of Adolescents during COVID-19 Pandemic, Results from “Come Te La Passi?”—Survey in Bologna, Italy

Social distancing measures adopted to face the COVID-19 pandemic had a detrimental impact on adolescent education and their interaction with peers and adults, secondary to the limitation of school and recreational activities, with repercussions on social and sexual life. The “Come te la passi?” (“How is it going?”) study, performed in the Metropolitan City of Bologna (Italy), aimed at investigating the type of information sources adopted by adolescents for their sexual and reproductive health (SRH) knowledge and education, the age of their sexual debut, and the way in which the COVID-19 pandemic affected their relationships and sexual life in order to help local health care professionals and educators designing SRH education programs. A purposely designed online survey was administered during the COVID-19 pandemic to 378 high school students (age > 14 yo) in July 2021. Based on the study results, the most common source of SRH education was the web, followed by peers (friends). A total of 61.3% of 17-year-olds already had sexual intercourse, and 90% of 15-year-olds had experienced romantic or sexual attraction. For 58.2% of the adolescents, the COVID-19 pandemic had negative effects on their relationships/sexual life. The current research emphasizes the need to involve health care professionals and educators in structured programs to promote SRH education tailored to adolescents’ needs and started from early ages