The Italian registry for patients with Prader-Willi syndrome

Background: Prader-Willi syndrome (PWS) is a rare and complex genetic disease, with numerous implications on metabolic, endocrine, neuropsychomotor systems, and with behavioural and intellectual disorders. Rare disease patient registries are important scientific tools (1) to collect clinical and epidemiologic data, (2) to assess the clinical management including the diagnostic delay, (3) to improve patients' care and (4) to foster research to identify new therapeutic solutions. The European Union has recommended the implementation and use of registries and databases. The main aims of this paper are to describe the process of setting up the Italian PWS register, and to illustrate our preliminary results. Materials and methods: The Italian PWS registry was established in 2019 with the aims (1) to describe the natural history of the disease, (2) to determine clinical effectiveness of health care services, (3) to measure and monitor quality of care of patients. Information from six different variables are included and collected into this registry: demographics, diagnosis and genetics, patient status, therapy, quality of life and mortality. Results: A total of 165 patients (50.3% female vs 49.7% male) were included into Italian PWS registry in 2019-2020 period. Average age at genetic diagnosis was 4.6 years; 45.4% of patients was less than 17 years old aged, while the 54.6% was in adult age (> 18 years old). Sixty-one percent of subjects had interstitial deletion of the proximal long arm of paternal chromosome 15, while 36.4% had uniparental maternal disomy for chromosome 15. Three patients presented an imprinting centre defect and one had a de novo translocation involving chromosome 15. A positive methylation test was demonstrated in the remaining 11 individuals but the underlying genetic defect was not identified. Compulsive food-seeking and hyperphagia was present in 63.6% of patients (prevalently in adults); 54.5% of patients developed morbid obesity. Altered glucose metabolism was present in 33.3% of patients. Central hypothyroidism was reported in 20% of patients; 94.7% of children and adolescents and 13.3% of adult patients is undergoing GH treatment. Conclusions: The analyses of these six variables allowed to highlight important clinical aspects and natural history of PWS useful to inform future actions to be taken by national health care services and health professionals

Ketogenic dietary therapies in epilepsy: recommendations of the Italian League against Epilepsy Dietary Therapy Study Group

A stepwise increase in the utilization of ketogenic dietary therapies for drug-resistant epilepsy has been observed in Italy in the last decade, although it is still considered often underused in many centers when compared to other countries. The Dietary Therapy Study Group of the Italian League against Epilepsy proposes practical recommendations to improve shared knowledge and facilitate the application of ketogenic dietary therapies, optimizing its efficacy and tolerability. The experts involved (11 child neuropsychiatrists, two adult neurologists, one psychologist, one pharmacologist, one pediatric endocrinologist, one representative of patients' associations, and three dietitians and clinical nutritionists) responded to a survey on current clinical practice issues and were asked to discuss controversial topics related to supplementation, long-term maintenance, transition, and a multidisciplinary approach to ketogenic dietary therapies. Practical indications for patient selection, diet initiation, management, side effects prevention, and follow-up are provided

Serum Albumin Is Inversely Associated With Portal Vein Thrombosis in Cirrhosis

We analyzed whether serum albumin is independently associated with portal vein thrombosis (PVT) in liver cirrhosis (LC) and if a biologic plausibility exists. This study was divided into three parts. In part 1 (retrospective analysis), 753 consecutive patients with LC with ultrasound-detected PVT were retrospectively analyzed. In part 2, 112 patients with LC and 56 matched controls were entered in the cross-sectional study. In part 3, 5 patients with cirrhosis were entered in the in vivo study and 4 healthy subjects (HSs) were entered in the in vitro study to explore if albumin may affect platelet activation by modulating oxidative stress. In the 753 patients with LC, the prevalence of PVT was 16.7%; logistic analysis showed that only age (odds ratio [OR], 1.024; P = 0.012) and serum albumin (OR, -0.422; P = 0.0001) significantly predicted patients with PVT. Analyzing the 112 patients with LC and controls, soluble clusters of differentiation (CD)40-ligand (P = 0.0238), soluble Nox2-derived peptide (sNox2-dp; P < 0.0001), and urinary excretion of isoprostanes (P = 0.0078) were higher in patients with LC. In LC, albumin was correlated with sCD4OL (Spearman's rank correlation coefficient [r(s)], -0.33; P < 0.001), sNox2-dp (r(s), -0.57; P < 0.0001), and urinary excretion of isoprostanes (r(s), -0.48; P < 0.0001) levels. The in vivo study showed a progressive decrease in platelet aggregation, sNox2-dp, and urinary 8-iso prostaglandin F2 alpha-III formation 2 hours and 3 days after albumin infusion. Finally, platelet aggregation, sNox2-dp, and isoprostane formation significantly decreased in platelets from HSs incubated with scalar concentrations of albumin. Conclusion: Low serum albumin in LC is associated with PVT, suggesting that albumin could be a modulator of the hemostatic system through interference with mechanisms regulating platelet activation

Executive Functions and Adaptive Behaviour in Autism Spectrum Disorders with and without Intellectual Disability

Executive functions (EF) in autism spectrum disorders (ASD) have been often investigated, although results seem to be rather inconsistent. The first aim of this study was to detect which EF components are common to the ASD continuum (from high- to low-functioning ASD) and identify a possible EF profile for ASD people. Planning, mental flexibility, inhibition of response, generativity, and ecologic EF were investigated. This study was extended not only to high-functioning ASD, but also to ASD with intellectual disability (ID). The second aim was to find EF aspects correlating with adaptive skills in ASD. A total of 61 children participated in the study (27 ASD with and without ID and 34 controls). Results highlight an executive profile characterised by impaired flexibility and deficient planning; these deficits are associated with decreased adaptive ability, particularly socialization, and a deficient shifting in ecologic conditions. These features are present in all ASD subgroups with and without ID; for this reason, they might be assumed as being specific features in ASD

Lama Santo Stefano  parte di ISBN: 978-88-91091-88-8

Lo studio è concentrato sull'insediamento rupestre di lama santo stefano a Monopoli BA . E' stato preso in considerazione il rilievo dell'insediamento rupestre che ha fornito differenti notizie e informazioni sulle fasi di frequentazione del comprensorio esaminato. I dati emersi dalla ricerca sono stati messi a disposizione per lo studio del castello di Santo Stefan

Role of Macrophages in Brain Tumor Growth and Progression

The role of macrophages in the growth and the progression of tumors has been extensively studied in recent years. A large body of data demonstrates that macrophage polarization plays an essential role in the growth and progression of brain tumors, such as gliomas, meningiomas, and medulloblastomas. The brain neoplasm cells have the ability to influence the polarization state of the tumor associated macrophages. In turn, innate immunity cells have a decisive role through regulation of the acquired immune response, but also through humoral cross-talking with cancer cells in the tumor microenvironment. Neoangiogenesis, which is an essential element in glial tumor progression, is even regulated by the tumor associated macrophages, whose activity is linked to other factors, such as hypoxia. In addition, macrophages play a decisive role in establishing the entry into the bloodstream of cancer cells. As is well known, the latter phenomenon is also present in brain tumors, even if they only rarely metastasize. Looking ahead in the future, we can imagine that characterizing the relationships between tumor and tumor associated macrophage, as well as the study of circulating tumor cells, could give us useful tools in prognostic evaluation and therapy. More generally, the study of innate immunity in brain tumors can boost the development of new forms of immunotherapy

Serrated lesions of the colon and rectum: Emergent epidemiological data and molecular pathways

In 2010, serrated polyps (SP) of the colon have been included in the WHO classification of digestive tumors. Since then a large corpus of evidence focusing on these lesions are available in the literature. This review aims to analyze the present data on the epidemiological and molecular aspects of SP. Hyperplastic polyps (HPs) are the most common subtype of SP (70–90%), with a minimal or null risk of malignant transformation, contrarily to sessile serrated lesions (SSLs) and traditional serrated adenomas (TSAs), which represent 10–20% and 1% of adenomas, respectively. The malignant transformation, when occurs, is supported by a specific genetic pathway, known as the serrated-neoplasia pathway. The time needed for malignant transformation is not known, but it may occur rapidly in some lesions. Current evidence suggests that a detection rate of SP ≥15% should be expected in a population undergoing screening colonoscopy. There are no differences between primary colonoscopies and those carried out after positive occult fecal blood tests, as this screening test fails to identify SP, which rarely bleed. Genetic similarities between SP and interval cancers suggest that these cancers could arise from missed SP. Hence, the detection rate of serrated-lesions should be evaluated as a quality indicator of colonoscopy. There is a lack of high-quality longitudinal studies analyzing the long-term risk of developing colorectal cancer (CRC), as well as the cancer risk factors and molecular tissue biomarkers. Further studies are needed to define an evidence-based surveillance program after the removal of SP, which is currently suggested based on experts’ opinions

Misure critiche. Nuova serie. A. 9, n. 2 (2010)

N.S. A. 9, n. 2 (2010): Cardillo A., Ludovico Castelvetro: sul “traslatare”, P. 5 ; Falardo D., “Lezioni” sul “Perí ýpsous”: Ms. Campori 843 della Biblioteca Estense, P. 22 ; De Caprio V., Pascoli e i ritorni di Ulisse, P. 30 ; Troiano R., Tradizioni regionali dialettali nella critica letteraria di Antonio Piromalli, P. 54 ; Paglia L., Percorso metodologico di lettura e di scrittura critica su un testo poetico, P. 67 ; Iannaco D., Due antologie di poeti contemporanei, P. 88 ; Tuscano P., Alvaro negli anni di Gennaro Mercogliano, P. 97 ; Napoli A., Nata il settimo giorno della creazione: il “Canto dell’amore assente” di Sauro Damiani, P. 105 ; Acanfora N., Il calcio nell’immaginario letterario tra “short story” e “teatro”. Rassegna bibliografica (2005-2010), P. 111 ; Annalisa Pontis, recensione a, Paola Daniela Giovanelli, Goldoni a Bologna, Roma, Bulzoni 2008, P. 135 ; Leone G., recensione a, Valeria Giannantonio, Oltre Vico. L’identità del passato a Napoli e Milano fra ‘700 e ‘800, Lanciano, Carabba 2009, P. 138 ; Moliterni, F., recensione a, In un concerto di voci amiche. Studi di letteratura italiana dell’Otto e Novecento in onore di Donato Valli, a cura di Marinella Cantelmo e Antonio Lucio Giannone (I tomo); Antonio Lucio Giannone (II tomo), Galatina, Congedo 2008, P. 140 ; Ferreri D., recensione a, Lavinia Spalanca, I fiori del deserto. Sbarbaro tra poesia e scienza, con testimonianze inedite, Genova, San Marco dei Giustiniani 2008, P. 143 ; Lucia C., recensione a, Raffaele Viviani, Poesie, Napoli, Guida 2010, P. 148 ; Filieri E., Antonio Lucio Giannone, Modernità del Salento. Scrittori, critici e artisti del Novecento e oltre, Galatina, Congedo 2009, P. 151 ; Nuovo L., Madotta L., recensione a, Salvatore Di Pasqua, Letteratura “come” pedagogia. La natura di un’analogia, Trieste, Eut 2010, P. 154 ; Troiano R., recensione a, Francesca Malagnini, Storia della lingua italiana e Didattica. Percorso di educazione linguistica e analisi di alcuni testi in prosa, Lecce, Pensa MultiMedia 2010, P. 157 ; Annibaldis G., recensione a, Pietro Sisto, “Legato son, perch’io stesso mi strinsi”. Storie e immagini di animali nella letteratura italiana, Pisa-Roma, Fabrizio Serra 2010, P. 162 ; Albano V., recensione a, Alessandro Acquarone, Pratica ed etica del management teatrale, Milano, Franco Angeli 2009, P. 164 ; Albano V., recensione a, Rancesco Silvestri, Questo legno è ancora vivo, Ragusa, EdiArgo 2008, P. 165 ; Acanfora N., recensione a, Giancarlo Cauteruccio, Panza, crianza, ricordanza. Tre pezzi dalla solitudine, Firenze, Edizioni della Meridiana 2008, P. 167 ; Acanfora N., recensione a, Emma Dante, Via Castellana Bandiera, Milano, Rizzoli 2008, P. 171 ; Elia G. S., recensione a, Marco I. De Santis, Lettere dagli argonauti, Bari, La Vallisa 2007, P. 177 ; Iannaco D., recensione a, Franco Manzoni, In fervida assenza, Milano, Raccolto 2010, P. 178 ; Napoli A., recensione a, Giancarlo Pontiggia, Stazioni, Varese, NEM 2010, P. 180 ; Copioli R., recensione a, Adriano Napoli, Le api dell’invisibile. Poeti italiani 1968-2008, Milano, Medusa 2010, P. 181

Enteral Nutrition Tolerance and REspiratory Support (ENTARES) Study in preterm infants: Study protocol for a randomized controlled trial

Background: Respiratory distress syndrome (RDS) and feeding intolerance are common conditions in preterm infants and among the major causes of neonatal mortality and morbidity. For many years, preterm infants with RDS have been treated with mechanical ventilation, increasing risks of acute lung injury and bronchopulmonary dysplasia. In recent years non-invasive ventilation techniques have been developed. Showing similar efficacy and risk of bronchopulmonary dysplasia, nasal continuous positive airway pressure (NCPAP) and heated humidified high-flow nasal cannula (HHHFNC) have become the most widespread techniques in neonatal intensive care units. However, their impact on nutrition, particularly on feeding tolerance and risk of complications, is still unknown in preterm infants. The aim of the study is to evaluate the impact of NCPAP vs HHHFNC on enteral feeding and to identify the most suitable technique for preterm infants with RDS. Methods: A multicenter randomized single-blind controlled trial was designed. All preterm infants with a gestational age of 25-29 weeks treated with NCPAP or HHHFNC for RDS and demonstrating stability for at least 48 h along with the compliance with inclusion criteria (age less than 7 days, need for non-invasive respiratory support, suitability to start enteral feeding) will be enrolled in the study and randomized to the NCPAP or HHHFNC arm. All patients will be monitored until discharge, and data will be analyzed according to an intention-to-treat model. The primary outcome is the time to reach full enteral feeding, while parameters of respiratory support, feeding tolerance, and overall health status will be evaluated as secondary outcomes. The sample size was calculated at 141 patients per arm. Discussion: The identification of the most suitable technique (NCPAP vs HHHFNC) for preterm infants with feeding intolerance could reduce gastrointestinal complications, improve growth, and reduce hospital length of stay, thus improving clinical outcomes and reducing health costs. The evaluation of the timing of oral feeding could be useful in understanding the influence that these techniques could have on the development of sucking-swallow coordination. Moreover, the evaluation of the response to NCPAP and HHHFNC could clarify their efficacy as a treatment for RDS in extremely preterm infants. Trial registration: ClinicalTrials.gov, NCT03548324. Registered on 7 June 2018