Infantile cortical hyperostosis and COL1A1 mutation in four generations

Infantile cortical hyperostosis (ICH, OMIM 114000) is a rare familial disorder which affects infants. It spontaneously heals in the first years of life. The disease is characterized by regressive subperiosteal hyperosteogenesis mainly affecting long bones, mandible, clavicles, and ribs which are remarkably swollen and deformed on X-rays. But it is also important to take into consideration the autosomal dominant pattern of inheritance to detect it. In 2005 Gensure et al. detected 3040C→T mutation in COL1A1 gene in three unrelated ICH families. Four generations of patients belonging to the same family were examined in our study. Molecular testing has now disclosed a pathogenic mutation in nine of them. The patients spontaneously recovered. Although our paper shows a distinct correlation between R836C mutation and ICH, there is a certain interindividual and intra-familial variability

Empathy and perceived burden in caregivers of patients with schizophrenia spectrum disorders

Background Caregivers of patients load different kinds of burdens, including emotional distress. Aims of this study were to evaluate both burden and empathy of caregivers who assist patients with schizophrenia spectrum disorders. Methods We selected a sample of 60 caregivers (34 women and 26 men), who assisted patients with schizophrenia spectrum disorders treated in our local Community Mental Health Center for a 1-year minimum period. We administered two scales to our sample, Zarit Burden Interview (ZBI) and Balanced Emotional Empathy Scale (BEES), and collected data of caregivers and their assisted patients in a 3-month period. Data were statistically analyzed. Results We reported a mean ZBI score of 49.68 (±15.03 SD) and a mean BEES score of 14.35 (±9.05 SD), indicating the perception of moderate-severe burden and low level of empathy, respectively. The analysis of internal consistency confirmed the good reliability of both ZBI (Cronbach’s alpha = 0.90) and BEES (Cronbach’s alpha = 0.77). The correlation between the two scales was not statistically significant at Spearman test. At our multiple linear regression, many variables of both caregiver and patient showed a significant correlation with the ZBI score. In particular, not living with the assisted patient and female gender of caregiver potentially decreased the burden, whereas clinical severity of assisted patient and two caregiver conditions, middle school education and spouse relationship with patient, could worsen the burden. We highlighted two positive statistically significant correlations between the total score of BEES and caregiver characteristics: being spouse and not living with assisted patient. Conclusions Our study highlights that the caregiver burden of patients with severe psychiatric disorders is high and is associated with low emotional empathy experienced by caregivers, probably due to a defensive psychological mechanism. The conditions of spouse and cohabitation can concomitantly increase both empathy and burden in caregivers

ADHD Follow-Up in Adulthood among Subjects Treated for the Disorder in a Child and Adolescent Mental Health Service from 1995 to 2015

Background and Objectives: ADHD is a neurodevelopmental disorder characterized by inattention and hyperactivity/impulsivity and can persist in adulthood. The aim of this study is to deepen knowledge about adult ADHD follow-up. Materials and Methods: This observational study consists of one retrospective part aimed at collecting records of children and adolescents treated for ADHD in the Children and Adolescent Mental Health Service (CAMHS) from 1995 to 2015 and, successively, at identifying their adult follow-up in Adult Mental Health Service (AMHS); the second part consists of ADHD scale administration, Diagnostic Interview for ADHD in Adults (DIVA 2-0) and Adult Self Rating Scale (ASRSv1.1), for the subjects currently being treated at AMHS who agreed to participate in the study. Results: We observed that among the 55 patients treated at CAMHS between 1995 and 2015 for ADHD and subsequently at the AMHS, none presented a diagnosis of ADHD; instead, they were treated for Intellectual Dysfunction (33%), Borderline Personality Disorder (15%) and Anxiety Disorders (9%), and two individuals were also diagnosed with comorbid substance/alcohol abuse (4%). Of the 55 patients, only 25 (45%) were treated at AMHS during the study period. Though we asked for their informed consent to administer the questionnaires, we were able to test only seven patients. The ASRS-V1.1 score showed that 43% of patients reported symptoms of ADHD persistence in adulthood. For DIVA 2.0, 57% of individuals reported scores indicating the persistence of the ADHD inattention component, and 43% the persistence of both ADHD dimensions. Conclusions: ADHD cannot be considered a disorder confined to childhood/adolescence but instead is a chronic and complex condition that can persist into adulthood. The very small size of our final sample may account for both the high ADHD dropout rate over the long follow-up period and the difficult transition from child to adult health care in ADHD treatment. Our investigation suggests the need for specific training in the diagnosis and treatment of adult ADHD and the implementation of transition protocols between minor and adult services to improve long-term treatments

Chikungunya Virus in Aedes albopictus, Italy

Chikungunya Virus in Aedes albopictus, Ital

Use of a high sensitive nanofluidic array for the detection of rare copies of BCR-ABL1 transcript in patients with Philadelphia-positiveacute lymphoblastic leukemia in complete responseIlaria

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West Nile virus transmission. results from the integrated surveillance system in Italy, 2008 to 2015

IIn Italy a national Plan for the surveillance of imported and autochthonous human vector-borne diseases (chikungunya, dengue, Zika virus disease and West Nile virus (WNV) disease) that integrates human and veterinary (animals and vectors) surveillance, is issued and revised annually according with the observed epidemiological changes. Here we describe results of the WNV integrated veterinary and human surveillance systems in Italy from 2008 to 2015. A real time data exchange protocol is in place between the surveillance systems to rapidly identify occurrence of human and animal cases and to define and update the map of affected areas i.e. provinces during the vector activity period from June to October. WNV continues to cause severe illnesses in Italy during every transmission season, albeit cases are sporadic and the epidemiology varies by virus lineage and geographic area. The integration of surveillance activities and a multidisciplinary approach made it possible and have been fundamental in supporting implementation of and/or strengthening preventive measures aimed at reducing the risk of transmission of WNV trough blood, tissues and organ donation and to implementing further measures for vector control

Contributo al femminile all’educazione tecnica e scientifica per le materie STEM. Fare rete tra scienziate/i, enti, università, associazioni, media e portatori d’interesse

Questo “contributo al femminile” è stato realizzato da un gruppo di perso- ne che ambisce a contribuire al miglioramento dell’educazione scolastica; è destinato a donne, uomini, ragazze, ragazzi, bambine e bambini per mettere in luce potenzialità, diseguaglianze, specificità di vita e professionali e favorire la parità di genere soprattutto negli ambiti tecnico-scientifici, in particolar modo nelle discipline STEM (Science, Technology, Engineering, Mathematics)

Surgeons' perspectives on artificial intelligence to support clinical decision-making in trauma and emergency contexts: results from an international survey

Background Artificial intelligence (AI) is gaining traction in medicine and surgery. AI-based applications can offer tools to examine high-volume data to inform predictive analytics that supports complex decision-making processes. Time-sensitive trauma and emergency contexts are often challenging. The study aims to investigate trauma and emergency surgeons’ knowledge and perception of using AI-based tools in clinical decision-making processes. Methods An online survey grounded on literature regarding AI-enabled surgical decision-making aids was created by a multidisciplinary committee and endorsed by the World Society of Emergency Surgery (WSES). The survey was advertised to 917 WSES members through the society’s website and Twitter profile. Results 650 surgeons from 71 countries in five continents participated in the survey. Results depict the presence of technology enthusiasts and skeptics and surgeons' preference toward more classical decision-making aids like clinical guidelines, traditional training, and the support of their multidisciplinary colleagues. A lack of knowledge about several AI-related aspects emerges and is associated with mistrust. Discussion The trauma and emergency surgical community is divided into those who firmly believe in the potential of AI and those who do not understand or trust AI-enabled surgical decision-making aids. Academic societies and surgical training programs should promote a foundational, working knowledge of clinical AI

Multiwavelength observations of 3C 454.3. III. Eighteen months of AGILE monitoring of the "Crazy Diamond"

We report on 18 months of multiwavelength observations of the blazar 3C 454.3 (Crazy Diamond) carried out in July 2007-January 2009. We show the results of the AGILE campaigns which took place on May-June 2008, July-August 2008, and October 2008-January 2009. During the May 2008-January 2009 period, the source average flux was highly variable, from an average gamma-ray flux F(E>100MeV) > 200E-8 ph/cm2/s in May-June 2008, to F(E>100MeV)~80E-8 ph/cm2/s in October 2008-January 2009. The average gamma-ray spectrum between 100 MeV and 1 GeV can be fit by a simple power law (Gamma_GRID ~ 2.0 to 2.2). Only 3-sigma upper limits can be derived in the 20-60 keV energy band with Super-AGILE. During July-August 2007 and May-June 2008, RXTE measured a flux of F(3-20 keV)= 8.4E-11 erg/cm2/s, and F(3-20 keV)=4.5E-11 erg/cm2/s, respectively and a constant photon index Gamma_PCA=1.65. Swift/XRT observations were carried out during all AGILE campaigns, obtaining a F(2-10 keV)=(0.9-7.5)E-11 erg/cm2/s and a photon index Gamma_XRT=1.33-2.04. BAT measured an average flux of ~5 mCrab. GASP-WEBT monitored 3C 454.3 during the whole 2007-2008 period from the radio to the optical. A correlation analysis between the optical and the gamma-ray fluxes shows a time lag of tau=-0.4 days. An analysis of 15 GHz and 43 GHz VLBI core radio flux observations shows an increasing trend of the core radio flux, anti- correlated with the higher frequency data. The modeling SEDs, and the behavior of the long-term light curves in different energy bands, allow us to compare the jet properties during different emission states, and to study the geometrical properties of the jet on a time-span longer than one year.Comment: Accepted for publication in ApJ. Adapted Abstract. 17 pages, 19 Figures, 5 Table