Search results for "specialist"
showing 10 items of 798 documents
The AutoInflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases
2022
ObjectiveThe present manuscript aims to describe an international, electronic-based, user-friendly and interoperable patient registry for monogenic autoinflammatory diseases (mAIDs), developed in the contest of the Autoinflammatory Diseases Alliance (AIDA) Network.MethodsThis is an electronic platform, based on the Research Electronic Data Capture (REDCap) tool, used for real-world data collection of demographics, clinical, laboratory, instrumental and socioeconomic data of mAIDs patients. The instrument has flexibility, may change over time based on new scientific acquisitions, and communicate potentially with other similar registries; security, data quality and data governance are corner …
Development and implementation of the AIDA International Registry for patients with Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Ad…
2022
ObjectiveAim of this paper is to illustrate the methodology, design, and development of the AutoInflammatory Disease Alliance (AIDA) International Registry dedicated to patients with the Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Adenitis (PFAPA) syndrome.MethodsThis is a physician-driven, non-population- and electronic-based registry proposed to gather real-world demographics, clinical, laboratory, instrumental and socioeconomic data from PFAPA patients. Data recruitment is realized through the on-line Research Electronic Data Capture (REDCap) tool. This registry is thought to collect standardized information for clinical research leading to solid real-life evidence. Th…
Survey of neonatal respiratory support use in very preterm infants in Italy
2012
Background: Respiratory support in very preterm infants is often a life-saving procedure and several techniques are available. There is lack of data on the current use of these techniques. Methods and aim: We analyzed a cohort of infants <30 weeks gestation or < 1501 g birth weight, enrolled in the Italian Neonatal Network in 2009 and 2010 (n = 8297, mean gestation = 29.3 weeks, mean birth weight = 1089 g) to ascertain the use of several techniques. We also conducted a questionnaire survey of all neonatal units adhering to the Italian Neonatal Network, inquiring about preferred methods of respiratory support. Results: Conventional ventilation was used in 53% of these infants, high frequency…
Rapid evolutionary adaptation to elevated salt concentrations in pathogenic freshwater bacteria Serratia marcescens.
2014
Rapid evolutionary adaptions to new and previously detrimental environmental conditions can increase the risk of invasion by novel pathogens. We tested this hypothesis with a 133-day-long evolutionary experiment studying the evolution of the pathogenic Serratia marcescens bacterium at salinity niche boundary and in fluctuating conditions. We found that S. marcescens evolved at harsh (80 g/L) and extreme (100 g/L) salt conditions had clearly improved salt tolerance than those evolved in the other three treatments (ancestral conditions, nonsaline conditions, and fluctuating salt conditions). Evolutionary theories suggest that fastest evolutionary changes could be observed in intermediate sele…
PROGETTO DI SMART WORKING DURANTE LA PANDEMIA DI COVID-19: SMART CO-WORKING PER LA RETE ASSISTENZIALE FRA PEDIATRI DI LIBERA SCELTA E UN CENTRO DI RI…
2021
Obiettivi La pandemia di COVID-19 ha modificato le strategie assistenziali in modo radicale. Le necessità di distanziamento sociale hanno condizionato l’accesso alle cure ospedaliere, con il rischio che i pazienti cronici, più vulnerabili, venissero gestiti con inadeguata interazione con le famiglie e i pediatri di famiglia (PdF), con gravi ritardi diagnostici e terapeutici. Metodi Un questionario con 10 domande sulla gestione dei pazienti con ipotiroidismo congenito (IC) è stato inviato ai PdF della regione Sicilia (Palermo, Agrigento, Trapani, Enna, Caltanissetta, Siracusa). Risultati Hanno risposto 55 PdF che seguono da 2 a 3 pazienti con IC, con prevalenza più elevata in aree ad alta en…
Lifecycle of Polycystic Ovary Syndrome (PCOS): From In Utero to Menopause
2013
Context: Polycystic ovary syndrome (PCOS) is diagnosed during the reproductive years when women present with 2 of 3 of the following criteria: 1) irregular menstrual cycles or anovulation, 2) hyperandrogenism, and 3) PCO morphology. However, there is evidence that PCOS can be identified from early infancy to puberty based on predisposing environmental influences. There is also increasing information about the PCOS phenotype after menopause. The goal of this review is to summarize current knowledge about the appearance of PCOS at different life stages and the influence of reproductive maturation and senescence on the PCOS phenotype. Evidence: PubMed, the bibliography from the Evidence-Based …
Nuovi markers sierologici in corso di Malattia Infiammatoria Cronica Intestinale [New serological markers in IBD diagnosis]
2011
IBD diagnosis, in spite of clinically suspected form, lies on upper and lower endoscopy. Nevertheless endoscopic investigation is an invasive diagnostic tool especially in pediatric age. For this reason pediatricians are looking for mini invasive diagnostic algorithm in order to avoid unnecessary endoscopy. Up to date, while fecal calprotectin is a well established and confirmed intestinal inflammatory marker, on the other hand, new perspectives are opening on serological markers helpful in suspected diagnosis of IBD
Food selection of a generalist herbivore exposed to native and alien seaweeds
2018
Understanding which factors influence the invasion of alien seaweed has become a central concern in ecology. Increasing evidence suggests that the feeding preferences of native herbivores influence the success of alien seaweeds in the new community. We investigated food selection of a generalist native grazer Paracentrotus lividus, in the presence of two alien seaweeds (Caulerpa cylindracea and Caulerpa taxifolia var. distichophylla) and two native seaweeds (Dictyopteris membranacea and Cystoseira compressa). Sea urchins were fed with six experimental food items: C. cylindracea, C. taxifolia var. distichophylla, a mixture of C. cylindracea and C. taxifolia var. distichophylla, D. membranace…
Muscle Histopathological Abnormalities in a Patient With a CCT5 Mutation Predicted to Affect the Apical Domain of the Chaperonin Subunit.
2022
Recognition of diseases associated with mutations of the chaperone system genes, e.g., chaperonopathies, is on the rise. Hereditary and clinical aspects are established, but the impact of the mutation on the chaperone molecule and the mechanisms underpinning the tissue abnormalities are not. Here, histological features of skeletal muscle from a patient with a severe, early onset, distal motor neuropathy, carrying a mutation on the CCT5 subunit (MUT) were examined in comparison with normal muscle (CTR). The MUT muscle was considerably modified; atrophy of fibers and disruption of the tissue architecture were prominent, with many fibers in apoptosis. CCT5 was diversely present in the sarcolem…
I confini del sindacato del G.A. sulla discrezionalità tecnica nella materia dei beni culturali.
2011
The evolution of the legal category of the technical discretion of the public administration assumes a particular relevance in the field of the protection of cultural goods in which the question of the 'external limit' of the review of legality of the administrative judge It offers elements and materials to scientific reflection in order to frame the administrative procedure of identification / evaluation, through technical-specialized rules and historicization and certification paths, of the cultural value imprinted in the goods.