Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening

The possibility to identify patients with spinal muscular atrophy through neonatal screenings has highlighted the need for clinical assessments that may systematically evaluate the possible presence of early neurological signs. The aim of this study was to use the Hammersmith Neonatal Neurological Examination (HNNE) and a module specifically designed for floppy infants to assess the possible variability of neurological findings in infants identified through neonatal screening. The infants included in this study were identified as part of a pilot study exploring neonatal screening in two Italian regions. A neurological examination was performed using the HNNE and an additional module developed for the assessment of floppy infants. Seventeen infants were identified through the screening. One patient had 1 SMN2 copy, 9 had 2 copies, 3 had 3, and 4 had more than 3 copies. Nine of the 17 infants (53%) had completely normal results on both scales, 3 had minimal signs, and the other 5 had more obvious clinical signs. The number of SMN2 copies was related to the presence of abnormal neurological signs (p = 0.036) but two SMN2 copies were associated with variable clinical signs as they were found in some infants with respectively normal examination or obvious severe early signs. Conclusions: Our results suggest that the combination of both scales increases the possibility to detect neonatal neurological signs and to define different early patterns of involvement also identifying paucisymptomatic patients.What is Known:• The use of new therapeutic options in presymptomatic SMA patients leads to a dramatic reduction of the onset and severity of the diesease.• The already existing tools commonly used in Type I SMA (HINE and CHOP-intend) may not be suitable to identify minor neurological signs in the neonatal period.What is New:• Combining the HNNE and the floppy infant module, we were able to identify early neurological signs in SMA infants identified through newborn screening and may help to predict the individual therapeutic outcome of these patients.• Iinfants with 2 SMN2 copies identified through the screening had a more variable neonatal examination compared to those with three or more copies, in agreement with similar findings in older infants

Il colore nell’architettura storica della Sardegna: linguaggi e significati

The color, in its valences of language and meaning, is a topic not sufficiently considered in the vast and complex landscape of the settlements in Sardinia. A careful reading of studies made on historic Sardinian towns, following the line of studies of M. Le Lannou (1941) and O. Baldacci (1952), shows that investigation emphasizes the origins of urban spaces and housing typologies using standard parameters that consider the morphological appearance, the size and the distribution, often neglecting the color. Studying the architecture and the urban centers, often tend to ignore the color, which track a creative act in its multiple meanings (historical, cultural, perceptual), is an essential component of the architecture and of the built space, in all different scales of perception. Important cultural component in the configuration of the living space, color features and distinguishes different geographical areas of Sardinia. Through this study, we want to investigate the "regions of color" as an historical and environmental value. The color and the material components of the historic facades of the buildings show the first expression of the cultural identity of the different geographical sub-regions of Sardinia. The recognition and the cultural belonging are expressed using different techniques and different materials of local tradition, going to affect the whole town was built by determining the identifiability of the place. Interested in the colors of the historic architecture, it's responding to the need to reclaim the sites, identifying the color tones that still feature some traditional types and over time that have shaped the image and memory of the "built landscape". In this study, the analysis refers to certain urban areas of Sardinia, centers selected as sample for their specific evocative character. The research aims to survey the material evidence which still persist and are worthy of study, with a view to establish a repository of information on the color of the "historical space" in some cities and several villages. The analysis on the color of the urban built, stands out today in Sardinia as an urgent problem to be addressed in order to give identity to the chaotic urban areas attacked by colors: various design styles of contemporary architecture have enabled new models of color, who are opposed and dissonant compared to the traditional colors of the historic buildings. The colors of the "built environment" affected by the absence of careful planning which defines a "use of color" as an expression of order and of a collective psychological need. It is necessary to reactivate a congruence between architectural languages and meanings associated with them, through a general rule of color coordination and monitoring for the future changes in the urban scene. Parole chiave

Metodologie integrate per la conoscenza, la tutela e la rappresentazione dell’architettura militare storica. Sistemi costruttivi e percorsi voltati lungo i bastioni occidentali di Cagliari (Sardegna, Italia)

The integrated method is been applied in the meet point between the curtain of Santa Chiara and the curtain of de Cardona, in a limited area of the ancient walls of Cagliari (Sardinia, Italy). The sector consists of a bastion called “curtain of Santa Chiara” designed in 1575 and realized in the period 1575-1578 by the military engineer Giorgio Paleari and the “curtain of de Cardona”, a military work commissioned by the Viceroy in the 1930s of the same century and interested by modification until the seventeenth century. The archive documents offer a lot of informations on the presence of gunboats and vaulted passages designed and built in this area during this period. This source –accompanied by an architectural survey of the existing military work and the knowledge of the construction techniques used at the time and indicated in the military treaties– may direct a subsequent investigation with geophysical methods. To this aim, a first graphic representation of the study area in the sixteenth century is proposed

Chemical-physical agents and biodeteriogens in the alteration of limestones used in coastal historical fortifications

The alteration of rocks is usually due to the chemical-physical processes that are initially established on the outer surface of the stone and gradually proceed towards the inner matrix. The chemical alteration generated by the interaction with atmospheric agents (weathering) involves the transformation of the mineral phases constituting the rock that are less stable in the current climatic conditions. That often leads to the formation of new secondary phases more stable with respect to the alteration. However, among these phases are often present some very soluble and hygroscopic phases (i.e., soluble salts, clay minerals) that cause inner degradation of the rock, due to their physical-mechanical actions (inner crystallization pressure, hydration dilation). In the case of carbonate rocks (limestone, sandstone with carbonate cement, etc.), the dissolution is the more frequent process, especially when the monuments were located within the cities, due to the acid meteoric precipitations (with H2CO3, H2SO4) that lead to the sulfation of carbonate matrix with formation of gypsum, very harmful to the stone. When the rock (e.g., clay-arenaceous limestones) naturally contains hygroscopic phases inside the matrix (i.e., marine salts, phyllosilicates) and they are also porous (> 20%), the physical degradation is accelerated, with decohesion of the mineralogical matrix (between the crystalline granules) and consequent disintegration of the stone. In the rock-atmosphere interaction often occurs the presence of biodeteriogens (plants, fungi, lichens, microorganisms, etc.), which negatively participate and in various ways in the processes of rock alteration. The research aims to define the chemical-physical alteration factors on the limestones exposed to different bioclimatic and biogeographic contexts (Mediterranean and Atlantic), taking two study-case monuments located in the Italian and in the Portuguese coasts. In the study presented in this paper the preliminary results of the case-study of Cagliari fortifications have been discussed. In the study the different vascular plants present on stone surface and crevices and their different role in the degradation of limestone rocks have been also studied

Chemical-physical agents and biodeteriogens in the alteration of limestones used in coastal historical fortifications located in different climatic conditions

The alteration of rocks is usually due to the chemical-physical processes that are initially established on the outer surface of the stone and gradually proceed towards the inner matrix. The chemical alteration generated by the interaction with atmospheric agents (weathering) involves the transformation of the mineral phases constituting the rock that are less stable in the current climatic conditions. That often leads to the formation of new secondary phases more stable with respect to the alteration. However, among these phases are often present some very soluble and hygroscopic phases (i.e., soluble salts, clay minerals) that cause inner degradation of the rock, due to their physical-mechanical actions (inner crystallization pressure, hydration dilation). In the case of carbonate rocks (limestone, sandstone with carbonate cement, etc.), the dissolution is the more frequent process, especially when the monuments were located within the urban cities, due to the acid meteoric precipitations (with H2CO3, H2SO4) that lead to the sulfation of carbonate matrix with formation of gypsum, very harmful to the stone. When the rock (e.g., clay-arenaceous limestones) naturally contains hygroscopic phases inside the matrix (i.e., marine salts, phyllosilicates) and they are also porous (> 20%), the physical degradation is accelerated, with decohesion of the mineralogical matrix (between the crystalline granules) and consequent disintegration of the stone. In the rock-atmosphere interaction often occurs the presence of biodeteriogens (plants, fungi, lichens, micro-organisms, etc.), which negatively participate and in various ways in the processes of rock alteration. This paper aims to define the chemical-physical alteration factors on the limestones exposed to different climatic contexts (Mediterranean-Atlantic), taking two study-case monuments located in the Italian and in the Portuguese coasts. In this research the different presence of taxa present on stone surface (after their classification) and their different role in the degradation of limestone rocks have been also studied

Effect of Different Disease-Modifying Therapies on Humoral Response to BNT162b2 Vaccine in Sardinian Multiple Sclerosis Patients

Objectives: Vaccination against COVID-19 is highly recommended to patients affected by multiple sclerosis (MS); however, the impact of MS disease-modifying therapies (DMTs) on the immune response following vaccination has been only partially investigated. Here, we aimed to elucidate the effect of DMTs on the humoral immune response to mRNA-based anti-SARS-CoV-2 vaccines in MS patients. Methods: We obtained sera from 912 Sardinian MS patients and 63 healthy controls 30 days after the second dose of BNT162b2 vaccine and tested them for SARS-CoV-2 response using anti-Spike (S) protein-based serology. Previous SARS-CoV-2 infection was assessed by anti-Nucleocapsid (N) serology. Patients were either untreated or undergoing treatment with a total of 13 different DMTs. Differences between treatment groups comprised of at least 10 patients were assessed by generalized linear mixed-effects model. Demographic and clinical data and smoking status were analyzed as additional factors potentially influencing humoral immunity from COVID-19 vaccine. Results: MS patients treated with natalizumab, teriflunomide, azathioprine, fingolimod, ocrelizumab, and rituximab showed significantly lower humoral responses compared to untreated patients. We did not observe a statistically significant difference in response between patients treated with the other drugs (dimethyl fumarate, interferon, alemtuzumab and glatiramer acetate) and untreated patients. In addition, older age, male sex and active smoking were significantly associated with lower antibody titers against SARS-CoV-2. MS patients previously infected with SARS-CoV-2 had significantly higher humoral responses to vaccine than uninfected patients. Conclusion: Humoral response to BNT162b2 is significantly influenced by the specific DMTs followed by patients, as well as by other factors such as previous SARS-CoV-2 infection, age, sex, and smoking status. These results are important to inform targeted strategies to prevent clinically relevant COVID-19 in MS patients