IDIOPATHIC PARTIAL EPILEPSY WITH AUDITORY FEATURES (IPEAF): A CLINICAL AND GENETIC STUDY OF 53 SPORADIC CASES

The purpose of our study was to describe the clinical characteristics of sporadic (S) cases of partial epilepsy with auditory features (PEAF) and pinpoint clinical, prognostic and genetic differences with respect to previously reported familial (F) cases of autosomal dominant partial epilepsy with auditory features (ADPEAF). We analysed 53 patients (24 females and 29 males) with PEAF diagnosed according to the following criteria: partial epilepsy with auditory symptoms, negative family history for epilepsy and absence of cerebral lesions on NMR study. All patients underwent a full clinical, neuroradiological and neurophysiological examination. Forty patients were screened for mutations in LGI1/epitempin, which is involved in ADPEAF. Age at onset ranged from 6 to 39 years (average 19 years). Secondarily generalized seizures were the most common type of seizures at onset (79%). Auditory auras occurred either in isolation (53%) or associated with visual, psychic or aphasic symptoms. Low seizure frequency at onset and good drug responsiveness were common, with 51% of patients seizure-free. Seizures tended to recur after drug withdrawal. Clinically, no major differences were found between S and F patients with respect to age at onset, seizure frequency and response to therapy. Analysis of LGI1/epitempin exons failed to disclose mutations. Our data support the existence of a peculiar form of non-lesional temporal lobe epilepsy closely related to ADPEAF but without a positive family history. This syndrome, here named IPEAF, has a benign course in the majority of patients and could be diagnosed by the presence of auditory aura. Although LGI1 mutations have been excluded, genetic factors may play an aetiopathogenetic role in at least some of these S cases

Obstetric care models in the Southern Region of Brazil and associated factors

The study sought to identify obstetric care models for low-risk pregnancies in the Southern Region of Brazil and to estimate factors associated with these models and maternal and neonatal outcomes. This is a cross-sectional, hospital-based study using data from the Birth in Brazil survey regarding puerperae and newborns. We identified 2,668 low-risk pregnant women. We carried out an exploratory analysis using the proportion of practices per hospital, among them inducing labor, presence of a companion, cesarean section and skin-to-skin contact, in order to obtain the care models we called Best Practice, Interventionist I and Interventionist II. We then carried out an inferential analysis of the associated characteristics. Results show that access to public or private funding, cultural factors and actions taken by health professional are associated with the care models. Public care had different contexts, one based on public policies and evidence-based practices; and another, that suggests the intentionality of vaginal delivery without considering humanization principles. Private care, on the other hand, is standardized and centered on the medical professional, with higher intervention levels. We conclude there is a predominance of interventionist obstetric care models in the Southern Region of Brazil, a type of care that goes against the best evidence, and that women who receive care in public hospitals have greater chances of benefiting from good practices

SOXS: a wide band spectrograph to follow up transients

SOXS (Son Of X-Shooter) will be a spectrograph for the ESO NTT telescope capable to cover the optical and NIR bands, based on the heritage of the X-Shooter at the ESO-VLT. SOXS will be built and run by an international consortium, carrying out rapid and longer term Target of Opportunity requests on a variety of astronomical objects. SOXS will observe all kind of transient and variable sources from different surveys. These will be a mixture of fast alerts (e.g. gamma-ray bursts, gravitational waves, neutrino events), mid-term alerts (e.g. supernovae, X-ray transients), fixed time events (e.g. close-by passage of minor bodies). While the focus is on transients and variables, still there is a wide range of other astrophysical targets and science topics that will benefit from SOXS. The design foresees a spectrograph with a Resolution-Slit product ~ 4500, capable of simultaneously observing over the entire band the complete spectral range from the U- to the H-band. The limiting magnitude of R~20 (1 hr at S/N~10) is suited to study transients identified from on-going imaging surveys. Light imaging capabilities in the optical band (grizy) are also envisaged to allow for multi-band photometry of the faintest transients. This paper outlines the status of the project, now in Final Design Phase.Comment: 12 pages, 14 figures, to be published in SPIE Proceedings 1070

Recent Advances in Synthetic Strategies to 2,3-Dihydrobenzofurans

This review gives an overview on recent developments in methods for the construction of compounds with the 2,3-dihydrobenzo furan core in the period 2012 to 2019. Interest in 2,3-dihydrobenzofurans is constantly increasing. The methods are divided into intermolecular and intramolecular approaches. Intermolecular approaches are subdivided according to the parent intermediate for the key reaction, while intermolecular approaches are subdivided according by which bond is formed in the key reaction. The transformation of benzofurans to dihydrobenzofurans and other miscellaneous methods are also discussed. Approaches useful for the synthesis of natural products are emphasized. 1 Introduction 2 Intermolecular Approaches 2.1 o -Quinone Methides and o -Quinones 2.2 p -Quinone Methides and p -Quinones 2.3 Nitrogen-Containing Phenols and Quinones 2.4 o -Hydroxyphenylcarbonyl Derivatives and Phenols 2.5 Miscellaneous 3 Intramolecular Approaches 3.1 O-C2 Bond Forming 3.2 C2-C3 Bond Forming 3.3 C3-Aryl Bond Forming 3.4 O-Aryl Bond Forming 4 From BF to DHB 5 Rearrangements and Aromatizations

Non-destructive approach to study the effects of gamma irradiation on wheat samples matrices

Questo studio esplora gli effetti dell’irraggiamento gamma su campioni di grano, con l’obiettivo di approfondire la comprensione della sua influenza sulla sicurezza alimentare, sulla qualità e sulla conservazione. Particolare attenzione è rivolta alle matrici alimentari ricche in polisaccaridi, come l’amido, che rappresentano componenti principali del grano. Il lavoro sperimentale è stato condotto presso la facility di irraggiamento gamma Calliope situata nel Centro Ricerche ENEA Casaccia (Roma), utilizzando una sorgente di cobalto-60. Impiegando tecniche non distruttive o in minima parte distruttive come le spettroscopie ATR-FTIR, Raman ed EPR, abbiamo analizzato i cambiamenti composizione, strutturali e del contenuto di radicali indotti da dosi gamma che vanno da 0.1 kGy a 10 kGy. Come tendenza generale, l’irraggiamento gamma fino a 10 kGy non produce una notevole degradazione o depolimerizzazione dei componenti del grano. Più nel dettaglio, le variazioni spettrali evidenziano cambiamenti molecolari dose-dipendenti, in particolare nelle strutture dei carboidrati e dell’amido, con implicazioni per la sicurezza alimentare e la percezione del consumatore. I risultati contribuiscono a promuovere l’irraggiamento gamma come metodo di conservazione non termico e sostenibile per diverse matrici alimentari, in linea con gli obiettivi globali di sicurezza e approvvigionamento alimentare. Questi approcci, che richiedono una preparazione minima dei campioni, possono essere estesi allo sviluppo di metodi di screening per una vasta gamma di polisaccaridi in diverse colture.This study explores the effects of gamma irradiation on wheat samples, with a focus on improving our understanding of its influence on food safety, quality, and preservation. Particular attention is given to food matrices rich in polysaccharides, such as starch, which are key components of wheat. The experimental work was conducted at the Calliope 60Co gamma irradiation facility at the ENEA Casaccia Research Centre (NUC-IRAD-GAM Laboratory, Rome). Employing non-destructive or minimally destructive techniques such as ATR-FTIR, Raman and EPR spectroscopies, we analysed compositional, structural, and radical content changes induced by gamma doses ranging from 0.1 kGy to 10 kGy. As a general trend, gamma irradiation up to 10 kGy does not produce remarkable degradation or depolymerization of wheat components. In more detail, variations in spectral data highlight dose-dependent molecular changes, particularly in carbohydrate and starch structures, with implications for food safety and consumer perception. The findings contribute to advancing gamma irradiation as a non-thermal, sustainable preservation method for diverse food matrices, aligning with global food security and safety goals. These approaches requiring minimal samples preparation can be extended in the development of screening methods for a wide range of polysaccharides in a variety of crops

Tailoring the chemical structure of cellulose nanocrystals by amine functionalization

The surface functionalization of cellulose nanocrystals is presently considered a useful and straightforward tool for accessing very reliable biocompatible and biodegradable nanostructures with tailored physical and chemical properties. However, to date the fine characterization of the chemical appendages introduced onto cellulose nanocrystals remains a challenge, due to the low sensitivity displayed by the most common techniques towards surface functionalization. In this paper, we demonstrate the easy functionalization of cellulose nanocrystals with aliphatic and aromatic amines, demonstrating the tunability of their properties in dependence on the selected functionality. Then, we apply to colloidal suspensions of modified nanocrystals 1H NMR analysis to elucidate their surface structure. To the best of our knowledge, this is the first report where such investigation was performed on cellulose nanocrystals presenting both surface and reducing end modification. These results involve interesting implications for the fields of cultural heritage and of materials chemistry

Impact of errors in recorded compressed breast thickness measurements on volumetric density classification using volpara v1.5.0 software

Purpose: Mammographic density has been demonstrated to predict breast cancer risk. It has been proposed that it could be used for stratifying screening pathways and recommending additional imaging. Volumetric density tools use the recorded compressed breast thickness (CBT) of the breast measured at the x-ray unit in their calculation, however the accuracy of the recorded thickness can vary. The aim of this study was to investigate whether inaccuracies in recorded CBT impact upon volumetric density classification and to examine whether the current quality control (QC) standard is sufficient for assessing mammographic density. Methods: Raw data from 52 digital screening mammograms were included in the study. For each image, the clinically recorded CBT was artificially increased and decreased to simulate measurement error. Increments of 1mm were used up to ±15% error of recorded CBT was achieved. New images were created for each 1mm step in thickness resulting in a total of 974 images which then had Volpara Density Grade (VDG) and volumetric density percentage assigned. Results: A change in VDG was recorded in 38.5% (n= 20) of mammograms when applying ±15% error to the recorded CBT and 11.5 % (n= 6) were within the QC standard prescribed error of ±5mm. Conclusion: The current QC standard of ±5mm error in recorded CBT creates the potential for error in mammographic density measurement. This may lead to inaccurate classification of mammographic density. The current QC standard for assessing mammographic density should be reconsidered

Optimization of paper characterization procedures for cultural heritage

La conservazione dei Beni Culturali è di importanza fondamentale per sostenere l’identità nazionale. Trattamenti con le radiazioni ionizzanti vengono utilizzati in tutto il mondo per la conservazione di opere d’arte costituite da materiali di origine naturale (carta, legno, pergamena) ma in Italia non sono ancora accettati del tutto, probabilmente a causa della non corretta conoscenza degli effetti indotti dalla radiazione sul manufatto. Da questo punto di vista, lo studio approfondito di questi effetti secondari e delle condizioni di irraggiamento che permettono di minimizzarli riveste un ruolo centrale. In questo report sono descritte procedure convalidate di caratterizzazione fisico chimica della carta, prima e dopo irraggiamento, con diverse tecniche sperimentali.Conservation and preservation of Cultural Heritage is of paramount importance to maintain the national identity. Ionizing radiation treatments are worldwide applied for conservation of artworks made from materials of organic origin (paper, wood, parchment, etc.) but in Italy they are not fully accepted probably due to the incorrect knowledge of the radiation induced effects on the artifacts. In this regard, the investigation of these secondary effects and of their minimization plays a key role. In this report, established procedures for the physico-chemical characterization of paper, before

Incidence trends of colorectal cancer in the early 2000s in Italy. Figures from the IMPATTO study on colorectal cancer screening

We utilised the IMPATTO study's archives to describe the 2000-2008 colorectal cancer (CRC) incidence rate trends in Italy, once screening programmes based on the faecal immunochemical test were implemented in different areas. Data on CRCs diagnosed in Italy from 2000 to 2008 in subjects aged 40-79 years were collected by 23 cancer registries. Incidence rate trends were evaluated as a whole and by macro-area (North-Centre and South-Islands), presence of a screening programme, sex, ten-year age class, anatomic site, stage at diagnosis, and pattern of diagnosis (screen-detected, non-screen-detected). The annual percent change (APC) of incidence rate trends, with 95% confidence intervals (95%CI), were computed. The study included 46,857 CRCs diagnosed in subjects aged 40-79 years, of which 2,806 were screendetected. The incidence rates in the North-Centre were higher than in the South and on the Islands. During the study period, screening programmes had been implemented only in the North-Centre and had a significant effect on incidence rates, with an initial sharp increase in incidence, followed by a decrease that started in the 3rd-4th years of screening. These incidence rate trends were exclusively due to modifications in the rates of stage I cases. After screening programmes started, incidence increased in all anatomic sites, particularly in the distal colon. The differential figures introduced by the implementation of screening programmes warrant a continuous surveillance of CRC incidence and mortality trends to monitor the impact of screening at a national level