Paroxysmal eye–head movements in Glut1 deficiency syndrome

Objective:To describe a characteristic paroxysmal eye–head movement disorder that occurs in infants with Glut1 deficiency syndrome (Glut1 DS).Methods:We retrospectively reviewed the medical charts of 101 patients with Glut1 DS to obtain clinical data about episodic abnormal eye movements and analyzed video recordings of 18 eye movement episodes from 10 patients.Results:A documented history of paroxysmal abnormal eye movements was found in 32/101 patients (32%), and a detailed description was available in 18 patients, presented here. Episodes started before age 6 months in 15/18 patients (83%), and preceded the onset of seizures in 10/16 patients (63%) who experienced both types of episodes. Eye movement episodes resolved, with or without treatment, by 6 years of age in 7/8 patients with documented long-term course. Episodes were brief (usually &lt;5 minutes). Video analysis revealed that the eye movements were rapid, multidirectional, and often accompanied by a head movement in the same direction. Eye movements were separated by clear intervals of fixation, usually ranging from 200 to 800 ms. The movements were consistent with eye–head gaze saccades. These movements can be distinguished from opsoclonus by the presence of a clear intermovement fixation interval and the association of a same-direction head movement.Conclusions:Paroxysmal eye–head movements, for which we suggest the term aberrant gaze saccades, are an early symptom of Glut1 DS in infancy. Recognition of the episodes will facilitate prompt diagnosis of this treatable neurodevelopmental disorder.</jats:sec

DEVELOPMENT POLICIES IN SOUTHERN ITALY BETWEEN GOVERNMENT AND GOVERNANCE

The paper has analysed outputs generated by the development policies implemented in last decades in the South of Italy, starting from the Extraordinary Intervention (since 1950, until 1992) to the European cohesion policy (since 1996). The first one was a high-centralized development policy. Differently, the European cohesion policy is based on multilevel governance, and follows a bottom-up approach oriented to stimulate local stakeholders’ participation. The analysis, exposed in previous paragraphs, has described these two different policy experiences, the related effects on local development and on convergence between North and South of Italy and among European regions. The paper has tried to answer to a fundamental question: what factors have negatively affected the implementation of these policies, generating unexpected effects

Bump start needed: linking guidelines, policy and practice in promoting physical activity during and beyond pregnancy

First paragraph: There is compelling evidence that regular physical activity (PA) during pregnancy benefits both mother and baby.1 2 Notably, physical and psychological benefits are evident in the literature, such as marked reductions in the development of gestational diabetes and hypertensive disorders, alongside improvements in depressive symptoms and cardiorespiratory fitness.1 2 The evidence base has been reflected by recent policy initiatives, for example, in 2017 (relaunched in 2019), the UK‘s chief medical officers (CMOs) published PA guidelines for pregnant women, which made substantial strides in unifying and translating the evidence into recommendations.1 The CMO guidelines are aimed at supporting health professionals to provide consistent, evidence-based PA messages to women throughout pregnancy.1 Recently, the Chartered Institute for the Management of Sport and Physical Activity have updated their professional standards for working with antenatal and postnatal clients to align with these CMO guidelines.3 However, not all women have access to professionals with this level of expertise and training, potentially limiting the impact of the CMO guidelines

Novo gênero para Loncheres grandis Wagner, 1845, com comentários taxonômicos sobre outros equimídeos arborícolas (Rodentia, Echimyidae)

A study of arboreal echimyids in Brazilian and European collections revealed a number of morphological traits supporting the recognition of Loncheres grandis Wagner, 1845, currently included in Makalata Husson, 1978, as a full genus. Our proposition of a new genus for L. grandis changed the species content of Makalata, what led us to reformulate the generic diagnosis for this genus and other arboreal echimyids as well. The new genus can be distinguished by several external characters including its color pattern, striking differences in tail pilosity, and palmar and plantar pad morphology. Osteological distinguishing traits includes the shape of nasals, the structure of the postorbital process of the zygomatic arch, petrosal morphology, the presence of a posterior maxillary foramen, the crown pattern of molariform teeth, and baculum morphology.O estudo de equimídeos arbóreos em coleções brasileiras e européias revelou diversas características morfológicas sustentando o reconhecimento de Loncheres grandis Wagner, 1845, atualmente incluído em Makalata Husson, 1978, como um gênero válido. Nossa proposta de um novo gênero para L. grandis alterou o conteúdo específico de Makalata, o que nos levou a reformular a diagnose genérica para este gênero, assim como para outros equimídeos arbóreos. O novo gênero pode ser distinguido através de várias características externas tais como seu padrão de coloração, uma notável distinção da pilosidade caudal e a morfologia das almofadas das patas anteriores e posteriores. Características osteológicas distintivas incluem a forma dos nasais, a estrutura do processo pós-orbital do arco zigomático, a morfologia do petroso, a presença de um foramen maxilar posterior, a morfologia da coroa dos dentes molariformes e a forma do báculo

Compositional variation and zoning of epidote supergroup minerals in the Campi Flegrei geothermal field, Naples, Italy

Authigenic epidote supergroups are an abundant accessory mineral in the calcium–aluminum silicate and thermometamorphic hydrothermal zones of the Campi Flegrei (Phlegraean Fields) geothermal field located west of Naples, Italy. Geothermal exploration for high-enthalpy fluid produced drill core and cuttings to ∼ 3 km depth in the Mofete (MF1, MF2, MF5) and San Vito (SV1, SV3) wells, where measured down-hole temperatures of epidote-bearing samples range from 270–350 ∘C and from 285–390 ∘C for the Mofete and San Vito areas, respectively. Two epidote group (epidote, clinozoisite), some rare earth element (REE)-bearing, and two allanite group (allanite-(Ce), ferriallanite-(Ce)) minerals were identified by electron microprobe. The allanite group is light rare earth element (LREE, La–Gd) enriched, Ce dominant, with REE + Y that varies from 30.59 wt %–14.32 wt %. Complex compositional variation such as oscillatory, sector, and complex (mixed) zoning is a ubiquitous feature observed in the epidote group, which occurs as veins, in vugs, as various size masses, and as isolated single crystals. Compositional zoning is caused by variable Fe ↔ Al3+ substitution and XFe [(Fe3+) / (Fe3++ Al)] ranges from 0.06–0.33 (Fe3+=0.185–0.967 apfu). XFe tends to decrease with increasing temperature in the Mofete wells, but its distribution is more complex in the San Vito wells, which records recent fault displacement. The variety and complexity of the epidote supergroup zoning suggest rapid fluid composition and/or intensive parameter fluctuations in the local hydrothermal system.</p

Le reti di impresa nella politica industriale. I contratti di rete e i contratti di sviluppo.

Le reti di impresa si sono affermate come un modello organizzativo e competitivo compiutamente alternativo sia al mercato sia alla gerarchia, superando una visione teorica che tendeva a confinarle come modello imperfetto o immaturo del capitalismo. I contributi raccolti nel volume, frutto di un lavoro di ricerca multidisciplinare, analizzano i presupposti teorici delle reti e si concentrano su due principali strumenti di politica industriale – i contratti di rete e i contratti di sviluppo – avvalendosi dei risultati emersi dai percorsi di attuazione di casi selezionati in quattro regioni italiane

Metric characterization of cluster dynamics on the Sierpinski gasket

We develop and implement an algorithm for the quantitative characterization of cluster dynamics occurring on cellular automata defined on an arbitrary structure. As a prototype for such systems we focus on the Ising model on a finite Sierpsinski Gasket, which is known to possess a complex thermodynamic behavior. Our algorithm requires the projection of evolving configurations into an appropriate partition space, where an information-based metrics (Rohlin distance) can be naturally defined and worked out in order to detect the changing and the stable components of clusters. The analysis highlights the existence of different temperature regimes according to the size and the rate of change of clusters. Such regimes are, in turn, related to the correlation length and the emerging "critical" fluctuations, in agreement with previous thermodynamic analysis, hence providing a non-trivial geometric description of the peculiar critical-like behavior exhibited by the system. Moreover, at high temperatures, we highlight the existence of different time scales controlling the evolution towards chaos.Comment: 20 pages, 8 figure