SURVEY AND RESTORATION: NEW WAYS OF INTERACTION

The present paper analyses two cases exemplifying a possible use of survey and its elaborations in the field of conservation: the bell tower of the Basilica Santa Maria delle Vigne and the Chiesa di San Matteo, both situated in Genoa. In the first case, the threedimensional survey was used as a basis to build a model for the structural analysis. The need for an accurate database created with the three-dimensional survey allowed the research team to determine and highlight the critical points of the structure as the thickness of vaults and floors, the location of loads and the inclination of the walls. The data collected was used to create an accurate 3D model to be tested with simulations, in order to verify the stability of the bell tower when applying stress and limitations. In the second case, the three-dimensional survey was used as the basis for the collection, management and representation of the data derived from the survey on rising damp. The purpose was to test a dynamic data processing system that could be used as a tool to collect data on site as well as to access data remotely. By using software for three-dimensional representation and a node programming language, it was possible to define a system that offered dynamic viewing and was easy to use, through the use of chromatic scales and level curves, which can be generated starting from tables containing numerical data. Surveying, diagnostics, modelling and representation allow one to experiment with new ways of interaction within the common goal of conservation

Effect of slow-moving landslides on a vaulted masonry building: The case of San Carlo Borromeo church in Cassingheno (Genova)

This paper presents the structural analysis of San Carlo Borromeo church, a masonry building located in Cassingheno (Genoa, Italy) in an area affected by a slow-moving landslide. A deep knowledge of the building in terms of geometry, structural configuration, history and construction phases was acquired by means of on-site surveys and archival research. The crack patterns were surveyed in detail and the deformations were studied through a point cloud obtained from a LIDAR survey. The comparison between the landslide direction and the damage observed showed discrepancies and suggested the presence of foundation settlements due to other phenomena. To identify the actual causes of damage, a finite element model (FEM) of the building in its hypothetical undeformed configuration was created. The geometry of such configuration was reconstructed starting from the point cloud obtained from the LIDAR survey and removing geometrical defects such as leaning of walls, deformation of vaults and inclination of tie-rods. To simulate the effects produced by the landslide and the foundation settlements on the building over time, nonlinear analyses were performed by imposing different displacement fields at the foundation plane in multiple steps. The damage predicted numerically was then compared with the one experienced by the building, showing good agreement

How Can We Assess Positive Welfare in Ruminants?

Until now, most research has focused on the development of indicators of negative welfare, and relatively few studies provide information on valid, reliable, and feasible indicators addressing positive aspects of animal welfare. However, a lack of suffering does not guarantee that animals are experiencing a positive welfare state. The aim of the present review is to identify promising valid and reliable animal-based indicators for the assessment of positive welfare that might be included in welfare assessment protocols for ruminants, and to discuss them in the light of the five domains model, highlighting possible gaps to be filled by future research. Based on the existing literature in the main databases, each indicator was evaluated in terms of its validity, reliability, and on-farm feasibility. Some valid indicators were identified, but a lot of the validity evidence is based on their absence when a negative situation is present; furthermore, only a few indicators are available in the domains of Nutrition and Health. Reliability has been seldom addressed. On-farm feasibility could be increased by developing specific sampling strategies and/or relying on the use of video- or automatic-recording devices. In conclusion, several indicators are potentially available (e.g., synchronisation of lying and feeding, coat or fleece condition, qualitative behaviour assessment), but further research is required

Evaluation of Maine Coon cat behavior during three different management situations

Today, cats are one of the most widespread and beloved companion animals: they share their life with people and are perceived as social partners by their owner. The knowledge and understanding of cat-human communication and of the behavior exhibited in response to different emotions is essential to improve the management of housed cats. The aim of this study was to analyze and compare the behavior of cats in three different situations that can occur in house cats' lives. Ten Maine Coon cats, four males and six females, ranging in age from one to 13 years, belonging to a single private owner and managed under the same conditions, were exposed randomly to three different contexts for five minutes (waiting for food, isolation in unknown environment, and brushing). All the situations were video-recorded and subsequently analyzed. The behaviors oriented to environment, oriented to food bowl, locomotion, active interactions, yawning, lip licking and swallowing, and salivation mainly characterized waiting for food, while isolation appears principally characterized by behaviors such as hiding, scratching, worried positions, and exploration. Withdrawal, passive interactions, aggressive behaviors, facial discomfort, and purring characterized brushing. Vocalizations were significantly more frequent during isolation and brushing than during waiting for food, but it is possible that the characteristics of the vocalizations in these two situations are different. Our principal finding is that cats showed different behavioral patterns in the three situations and, in particular, their behavior during brushing was very different than in the two other situations. It can be hypothesized that these different behavioral responses are due to the different emotional states elicited by each of the three challenging and potentially stressful situations. Further investigation is being carried out to better understand cats' behaviors and emotions to improve cats' management in the household

Arginine : glycine amidinotransferase (AGAT) deficiency in a newborn: Early treatment can prevent phenotypic expression of the disease

Arginine:glycine amidinotransferase deficiency is a treatable inborn error of creatine synthesis, characterized by mental retardation, language impairment, and behavioral disorders. We describe a patient in whom arginine:glycine amidinotransferase was diagnosed at birth and treated at 4 months with creatine supplementation. In contrast with his 2 older sisters, he had normal psychomotor development at 18 months

Phenotypic definition and genotype-phenotype correlates in pmpca-related disease

Background: Peptidase mitochondrial processing alpha (PMPCA) biallelic mutations cause a spectrum of disorders ranging from severe progressive multisystemic mitochondrial encephalopathy to a milder non-progressive cerebellar ataxia with or without intellectual disability. Recently, we and others described an intermediate phenotype in two unrelated patients. Methods: We report a second Italian patient carrying novel PMPCA variants (p.Trp278Leu; p.Arg362Gly). Molecular modeling, dynamics simulation, RT-qPCR, and Western blotting were performed to predict the pathogenic impact of variants in the two Italian patients and attempt genotype-phenotype correlates. Results: In line with the two patients with intermediate phenotypes, our case presented global psychomotor delay with regression, intellectual disability, spastic-ataxic gait, and hyperkinetic movements, with cerebellar atrophy and bilateral striatal hyperintensities. However, blood lactate, muscle biopsy, and MRI spectroscopy were normal. PMPCA protein levels were significantly higher than controls despite normal cDNA levels. Dynamics simulation of several PMPCA missense variants showed a variable impact on the flexibility of the glycine rich loop and, for some cases, on the overall protein stability, without clear genotype-phenotype correlates. Conclusion: We confirm the expansion of PMPCA phenotypic spectrum including an intermediate phenotype of progressive encephalopathy without systemic involvement. The association of cerebellar atrophy with “Leigh-like” striatal hyperintensities may represent a “red flag” for this condition

Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants

SCV was supported by a Max Planck Research Group awarded by the Max Planck Gesellschaft, a Human Frontiers Science Program Grant (RGP0058/2016), and a UKRI Future Leaders Fellowship (MR/T021985/1). MA was supported by an International Max Planck Research School (IMPRS) PhD Fellowship from the Max Planck Institute for Psycholinguistics.Background:  Heterozygous variants in CNTNAP2 have been implicated in a wide range of neurological phenotypes, including intellectual disability (ID), epilepsy, autistic spectrum disorder (ASD), and impaired language. However, heterozygous variants can also be found in unaffected individuals. Biallelic CNTNAP2 variants are rarer and cause a well-defined genetic syndrome known as CASPR2 deficiency disorder, a condition characterised by ID, early-onset refractory epilepsy, language impairment, and autistic features. Case-report : A 7-year-old boy presented with hyperkinetic stereotyped movements that started during early infancy and persisted over childhood. Abnormal movements consisted of rhythmic and repetitive shaking of the four limbs, with evident stereotypic features. Additional clinical features included ID, attention deficit-hyperactivity disorder (ADHD), ASD, and speech impairment, consistent with CASPR2 deficiency disorder. Whole-genome array comparative genomic hybridization detected a maternally inherited 0.402 Mb duplication, which involved intron 1, exon 2, and intron 2 of CNTNAP2 (c.97 +?_209-?dup). The affected region in intron 1 contains a binding site for the transcription factor FOXP2, potentially leading to abnormal CNTNAP2 expression regulation. Sanger sequencing of the coding region of CNTNAP2 also identified a paternally-inherited missense variant c.2752C > T, p.(Leu918Phe). Conclusion : This case expands the molecular and phenotypic spectrum of CASPR2 deficiency disorder, suggesting that Hyperkinetic stereotyped movements may be a rare, yet significant, clinical feature of this complex neurological disorder. Furthermore, the identification of an in-frame, largely non-coding duplication in CNTNAP2 points to a sophisticated underlying molecular mechanism, likely involving impaired FOXP2 binding.Publisher PDFPeer reviewe

KNOWLEDGE-BASED MODELLING FOR AUTOMATIZING HBIM OBJECTS. THE VAULTED CEILINGS OF PALAZZO DUCALE IN URBINO

Vault modelling in HBIM poses a significant challenge due to the geometrical complexity and lack of standardization of those elements. Starting from the definition of an ontology able to describe and manage different typologies of Italian Renaissance vaults, this paper presents two methods for their representation in the context of Ducal Palace of Urbino HBIM implementation. The first method is a simplified semi-automated scan-to-BIM procedure relying on Revit adaptive families; the second is a more complex parametric scripting in Dynamo VPL. The paper proposes a library of suitable vault families for the parametric modelling of Renaissance architecture and offers a comparison between the models generated and their respective surveyed point-clouds, with the aim of assessing the procedure. Revit adaptive families appeared to be the easiest to implement and the most efficient solution, while Dynamo allowed for greatest complexity thought showing limitations and implementation difficulties

Clinical, molecular and glycophenotype insights in SLC39A8-CDG

Background: SLC39A8, a gene located on chromosome 4q24, encodes for the manganese (Mn) transporter ZIP8 and its detrimental variants cause a type 2 congenital disorder of glycosylation (CDG). The common SLC39A8 missense variant A391T is associated with increased risk for multiple neurological and systemic disorders and with decreased serum Mn. Patients with SLC39A8-CDG present with different clinical and neuroradiological features linked to variable transferrin glycosylation profile. Galactose and Mn supplementation therapy results in the biochemical and clinical amelioration of treated patients. Results: Here, we report clinical manifestations, neuroradiological features and glycophenotypes associated with novel SLC39A8 variants (c.1048G > A; p.Gly350Arg and c.131C > G; p.Ser44Trp) in two siblings of the same Italian family. Furthermore, we describe a third patient with overlapping clinical features harbouring the homozygous missense variant A391T. The clinical phenotype of the three patients was characterized by severe developmental disability, dystonic postural pattern and dyskinesia with a more severe progression of the disease in the two affected siblings. Neuroimaging showed a Leigh syndrome-like pattern involving the basal ganglia, thalami and white matter. In the two siblings, atrophic cerebral and cerebellum changes consistent with SLC39A8-CDG were detected as well. Serum transferrin isoelectric focusing (IEF) yielded variable results with slight increase of trisialotransferrin isoforms or even normal pattern. MALDI-MS showed the presence of hypogalactosylated transferrin N-glycans, spontaneously decreasing during the disease course, only in one affected sibling. Total serum N-glycome depicted a distinct pattern for the three patients, with increased levels of undergalactosylated and undersialylated precursors of fully sialylated biantennary glycans, including the monosialo-monogalacto-biantennary species A2G1S1. Conclusions: Clinical, MRI and glycosylation features of patients are consistent with SLC39A8-CDG. We document two novel variants associated with Leigh syndrome-like disease presentation of SLC39A8-CDG. We show, for the first time, a severe neurological phenotype overlapping with that described for SLC39A8-CDG in association with the homozygous A391T missense variant. We observed a spontaneous amelioration of transferrin N-glycome, highlighting the efficacy of MS-based serum glycomics as auxiliary tool for the diagnosis and clinical management of therapy response in patients with SLC39A8-CDG. Further studies are needed to analyse more in depth the influence of SLC39A8 variants, including the common missense variant, on the expression and function of ZIP8 protein, and their impact on clinical, biochemical and neuroradiological features