Toward cognitive digital twins using a BIM-GIS asset management system for a diffused university

The integrated use of building information modeling (BIM) and geographic information system (GIS) is promising for the development of asset management systems (AMSs) for operation and maintenance (O & M) in smart university campuses. The combination of BIM-GIS with cognitive digital twins (CDTs) can further facilitate the management of complex systems such as university building stock. CDTs enable buildings to behave as autonomous entities, dynamically reacting to environmental changes. Timely decisions based on the actual conditions of buildings and surroundings can be provided, both in emergency scenarios or when optimized and adaptive performances are required. The research aims to develop a BIM-GIS-based AMS for improving user experience and enabling the optimal use of resources in the O & M phase of an Italian university. Campuses are complex assets, mainly diffused with buildings spread across the territory, managed with still document-based and fragmented databases handled by several subjects. This results in incomplete and asymmetrical information, often leading to ineffective and untimely decisions. The paper presents a methodology for the development of a BIM-GIS web-based platform (i.e., AMS-app) providing the real-time visualization of the asset in an interactive 3D map connected to analytical dashboards for management support. Two buildings of the University of Turin are adopted as demonstrators, illustrating the development of an easily accessible, centralized database by integrating spatial and functional data, useful also to develop future CDTs. As a first attempt to show the AMS app potential, crowd simulations have been conducted to understand the buildings' actual level of safety in case of fire emergency and demonstrate how CDTs could improve it. The identification of data needed, also gathered through the future implementation of suitable sensors and Internet of Things networks, is the core issue together with the definition of effective asset visualization and monitoring methods. Future developments will explore the integration of artificial intelligence and immersive technologies to enable space use optimization and real-time wayfinding during evacuation, exploiting digital tools to alert and drive users or authorities for safety improvement. The ability to easily optimize the paths with respect to the actual occupancy and conditions of both the asset and surroundings will be enabled

Penicillamine-related lichenoid dermatitis and utility of zinc acetate in a wilson disease patient with hepatic presentation, anxiety and spect abnormalities

Wilson disease is an autosomal recessive disorder of hepatic copper metabolism with consequent copper accumulation and toxicity in many tissues and consequent hepatic, neurologic and psychiatric disorders. We report a case of Wilson disease with chronic liver disease; moreover, in our patient, presenting also with high levels of state anxiety without depression, 99mTc-ECD- SPECT showed cortical hypoperfusion in frontal lobes, more marked on the left frontal lobe. During the follow-up of our patient, penicillamine was interrupted after the appearance of a lichenoid dermatitis, and zinc acetate permitted to continue the successful treatment of the patient without side-effects. In our case the therapy with zinc acetate represented an effective treatment for a Wilson disease patient in which penicillamine-related side effects appeared. The safety of the zinc acetate allowed us to avoid other potentially toxic chelating drugs; this observation is in line with the growing evidence on the efficacy of the drug in the treatment of Wilson disease. Since most of Wilson disease penicillamine-treated patients do not seem to develop this skin lesion, it could be conceivable that a specific genetic factor is involved in drug response. Further studies are needed for a better clarification of Wilson disease therapy, and in particular to differentiate specific therapies for different Wilson disease phenotypes

Extradural Motor Cortex Stimulation might improve episodic and working memory in patients with Parkinson\u2019s disease

Electric Extradural Motor Cortex Stimulation (EMCS) is a neurosurgical procedure suggested for treatment of patients with advanced Parkinson\u2019s disease (PD). We report two PD patients treated by EMCS, who experienced worsening of motor symptoms and cognition 5 years after surgery, when EMCS batteries became discharged. One month after EMCS restoration, they experienced a subjective improvement of motor symptoms and cognition. Neuropsychological assessments were carried out before replacement of batteries (off-EMCS condition) and 6 months afterward (on-EMCS condition). As compared to off-EMCS condition, in on-EMCS condition both patients showed an improvement on tasks of verbal episodic memory and backward spatial short-term/working memory task, and a decline on tasks of selective visual attention and forward spatial short-term memory. These findings suggest that in PD patients EMCS may induce slight beneficial effects on motor symptoms and cognitive processes involved in verbal episodic memory and in active manipulation of information stored in working memory

Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration.

OBJECTIVE: To characterize clinically and molecularly an early-onset, variably progressive neurodegenerative disorder characterized by a cerebellar syndrome with severe ataxia, gaze palsy, dyskinesia, dystonia, and cognitive decline affecting 11 individuals from 3 consanguineous families. METHODS: We used whole-exome sequencing (WES) (families 1 and 2) and a combined approach based on homozygosity mapping and WES (family 3). We performed in vitro studies to explore the effect of the nontruncating SQSTM1 mutation on protein function and the effect of impaired SQSTM1 function on autophagy. We analyzed the consequences of sqstm1 down-modulation on the structural integrity of the cerebellum in vivo using zebrafish as a model. RESULTS: We identified 3 homozygous inactivating variants, including a splice site substitution (c.301+2T>A) causing aberrant transcript processing and accelerated degradation of a resulting protein lacking exon 2, as well as 2 truncating changes (c.875_876insT and c.934_936delinsTGA). We show that loss of SQSTM1 causes impaired production of ubiquitin-positive protein aggregates in response to misfolded protein stress and decelerated autophagic flux. The consequences of sqstm1 down-modulation on the structural integrity of the cerebellum in zebrafish documented a variable but reproducible phenotype characterized by cerebellum anomalies ranging from depletion of axonal connections to complete atrophy. We provide a detailed clinical characterization of the disorder; the natural history is reported for 2 siblings who have been followed up for >20 years. CONCLUSIONS: This study offers an accurate clinical characterization of this recently recognized neurodegenerative disorder caused by biallelic inactivating mutations in SQSTM1 and links this phenotype to defective selective autophagy

Tonotopic organization of human auditory cortex analyzed by SPET

Single photon emission tomography (SPET) was used to map blood flow increases in the temporal and parietal cortex of 16 normally-hearing subjects after auditory stimulation. Eight subjects were stimulated with a multifrequency 40 dB HL pure tone at 250, 500, 1000, 2000, 4000 Hz, each frequency varying every 30 s. Single 500 Hz pure tones at 40 dB HL were delivered to the remainder of the subjects. Five bilaterally deaf subjects were used as controls. Marked cerebral flow increase following acoustic stimulation with a significantly prevalent activation of the contralateral temporal cortex was achieved (p < 0.001). According to the tonotopic organization of the human auditory cortex, low monofrequency stimulation activated the most lateral sagittal tomograms (from 48.75 to 56.25 mm laterally to the brain midline) only, while multifrequency stimuli activated all sagittal tomograms (from 18.75 to 56.25 mm). On the basis of these results, it is likely that SPET is able to give real information on the cortical distribution of the auditory frequency range, taking into account the number and position of the activated slices. Further clinical investigations in order to define the relationships among blood flow cortical increases, stimulus intensity and auditory threshold, are in progress

Imaging studies on dopamine transporter and depression: A review of literature and suggestions for future research

We review the conflicting results from imaging studies of dopamine transporter availability in depressed patients and also discuss the heterogeneity of the variables involved. Major depression includes diverse clinical manifestations and in recent years there has been an increasing interest in the identification of homogeneous phenotypes and different clinical subtypes of depression, e.g. anhedonic depression, retarded depression, etc. In addition, the use of different radioligands and imaging techniques, diverse rating scales, together with the lack of control of clinical variables (clinical course, recent or past use of substances of abuse, etc.) make it difficult to clearly identify neuronal regions or networks with consistently abnormal structures or functions in major depressive disorder. It is probably necessary to build a shared approach between clinicians and researchers in order to identify standardized procedures to better understand the role of the dopamine transporter in depression. We outline a list of major issues and also suggest some standardized procedures in collecting clinical and imaging data on major depressed patients. Our aim is to delineate a possible "modus operandi" that would be a proposal for neuroreceptor studies on major depression. (C) 2013 Elsevier Ltd. All rights reserved

Tonotopic organization of human auditory cortex analyzed by SPET

Single photon emission tomography (SPET) was used to map blood flow increases in the temporal and parietal cortex of 16 normally-hearing subjects after auditory stimulation. Eight subjects were stimulated with a multifrequency 40 dB HL pure tone at 250, 500, 1000, 2000, 4000 Hz, each frequency varying every 30 s. Single 500 Hz pure tones at 40 dB HL were delivered to the remainder of the subjects. Five bilaterally deaf subjects were used as controls. Marked cerebral flow increase following acoustic stimulation with a significantly prevalent activation of the contralateral temporal cortex was achieved (p < 0.001). According to the tonotopic organization of the human auditory cortex, low monofrequency stimulation activated the most lateral sagittal tomograms (from 48.75 to 56.25 mm laterally to the brain midline) only, while multifrequency stimuli activated all sagittal tomograms (from 18.75 to 56.25 mm). On the basis of these results, it is likely that SPET is able to give real information on the cortical distribution of the auditory frequency range, taking into account the number and position of the activated slices. Further clinical investigations in order to define the relationships among blood flow cortical increases, stimulus intensity and auditory threshold, are in progress