Search

Background Multiple sclerosis (MS) is characterized by phenotypical heterogeneity, partly resulting from demographic and environmental risk factors. Socio-economic factors and the characteristics of local MS facilities might also play a part. Methods This study included patients with a confirmed MS diagnosis enrolled in the Italian MS and Related Disorders Register in 2000–2021. Patients at first visit were classified as having a clinically isolated syndrome (CIS), relapsing–remitting (RR), primary progressive (PP), progressive-relapsing (PR), or secondary progressive MS (SP). Demographic and clinical characteristics were analyzed, with centers’ characteristics, geographic macro-areas, and Deprivation Index. We computed the odds ratios (OR) for CIS, PP/PR, and SP phenotypes, compared to the RR, using multivariate, multinomial, mixed effects logistic regression models. Results In all 35,243 patients from 106 centers were included. The OR of presenting more advanced MS phenotypes than the RR phenotype at first visit significantly diminished in relation to calendar period. Females were at a significantly lower risk of a PP/PR or SP phenotype. Older age was associated with CIS, PP/PR, and SP. The risk of a longer interval between disease onset and first visit was lower for the CIS phenotype, but higher for PP/PR and SP. The probability of SP at first visit was greater in the South of Italy. Discussion Differences in the phenotype of MS patients first seen in Italian centers can be only partly explained by differences in the centers’ characteristics. The demographic and socio-economic characteristics of MS patients seem to be the main determinants of the phenotypes at first referral.

BACKGROUND/OBJECTIVES: To investigate if the visual and anatomic response to the first dexamethasone implant (DEX) predicts the 12-month clinical outcome after shifting to fluocinolone acetonide (FAc) implant in patients with diabetic macular oedema (DMO). METHODS: Retrospective cohort study including pseudophakic patients with previously treated DMO, undergone one or more DEX injections before FAc. Functional and morphologic response to DEX was defined based on the best-corrected visual acuity (BCVA) and central macular thickness (CMT) changes after the first DEX, respectively. Steroid-response was defined as intraocular pressure (IOP) elevation ≥5 mmHg or IOP > 21 mmHg after any previous DEX exposure. Pairwise comparisons for BCVA, CMT, and IOP after FAc were performed with linear mixed models and a repeated-measure design. RESULTS: Forty-four eyes of 33 patients were included. Patients were shifted to FAc after a mean ± standard deviation of 4.6 ± 3.2 DEX injections. Overall, BCVA and CMT improved during the first 12 months after switching to FAc (p = 0.04 and p

The past decade has seen extraordinary increase in worldwide availability of and access to several large multiple sclerosis (MS) databases and registries. MS registries represent powerful tools to provide meaningful information on the burden, natural history, and long-term safety and effectiveness of treatments. Moreover, patients, physicians, industry, and policy makers have an active interest in real-world observational studies based on register data, as they have the potential to answer the questions that are most relevant to daily treatment decision-making. In 2014, the Italian MS Foundation, in collaboration with the Italian MS clinical centers, promoted and funded the creation of the Italian MS Register, a project in continuity with the existing Italian MS Database Network set up from 2001. Main objective of the Italian MS Register is to create an organized multicenter structure to collect data of all MS patients for better defining the disease epidemiology, improving quality of care, and promoting research projects in high-priority areas. The aim of this article is to present the current framework and network of the Italian MS register, including the methodology used to improve the quality of data collection and to facilitate the exchange of data and the collaboration among national and international groups. The past decade has seen extraordinary increase in worldwide availability of and access to several large multiple sclerosis (MS) databases and registries. MS registries represent powerful tools to provide meaningful information on the burden, natural history, and long-term safety and effectiveness of treatments. Moreover, patients, physicians, industry, and policy makers have an active interest in real-world observational studies based on register data, as they have the potential to answer the questions that are most relevant to daily treatment decision-making. In 2014, the Italian MS Foundation, in collaboration with the Italian MS clinical centers, promoted and funded the creation of the Italian MS Register, a project in continuity with the existing Italian MS Database Network set up from 2001. Main objective of the Italian MS Register is to create an organized multicenter structure to collect data of all MS patients for better defining the disease epidemiology, improving quality of care, and promoting research projects in high-priority areas. The aim of this article is to present the current framework and network of the Italian MS register, including the methodology used to improve the quality of data collection and to facilitate the exchange of data and the collaboration among national and international groups.

Background/Objectives: To investigate if the visual and anatomic response to the first dexamethasone implant (DEX) predicts the 12-month clinical outcome after shifting to fluocinolone acetonide (FAc) implant in patients with diabetic macular oedema (DMO). Methods: Retrospective cohort study including pseudophakic patients with previously treated DMO, undergone one or more DEX injections before FAc. Functional and morphologic response to DEX was defined based on the best-corrected visual acuity (BCVA) and central macular thickness (CMT) changes after the first DEX, respectively. Steroid-response was defined as intraocular pressure (IOP) elevation ≥5 mmHg or IOP > 21 mmHg after any previous DEX exposure. Pairwise comparisons for BCVA, CMT, and IOP after FAc were performed with linear mixed models and a repeated-measure design. Results: Forty-four eyes of 33 patients were included. Patients were shifted to FAc after a mean ± standard deviation of 4.6 ± 3.2 DEX injections. Overall, BCVA and CMT improved during the first 12 months after switching to FAc (p = 0.04 and p < 0.001, respectively). Only eyes with a good morphologic response to DEX had a significant CMT reduction after FAc (p < 0.001), while no significant relationship was found between BCVA improvement after DEX and after FAc. IOP elevation occurred in 9 eyes (20%) following DEX implant. These eyes carried a 20-fold increased risk of having an IOP rise after FAc (p < 0.001), with a non-linear relationship between the IOP increase after DEX and the one after FAc. Conclusion: The response to previous DEX may anticipate the morphologic response to subsequent FAc. Eyes with steroid-induced IOP elevation after DEX are at a high risk of IOP increase after FAc. The visual response after FAc was not associated with the visual response to previous steroids, indicating that FAc may have a role also in patients refractory to DEX implant. © 2021, The Author(s), under exclusive licence to The Royal College of Ophthalmologists.

Introduction Erectile dysfunction is a highly prevalent condition. Existing guidelines provide recommendations for diagnosis and treatment, but they are often disregarded in clinical practice in favor of a “patient-tailored” approach. Objectives We planned a Delphi consensus method to bridge the gap between evidence-based medicine and the real-life approach in daily practice. Materials and Methods The Advisory Board prepared 15 statements on debated topics in andrology, each including 4–6 items designed as a 5-point Likert scale. After a validation phase, the questionnaire was sent by e-mail to a panel of experts for a first round of voting; members of the panel were later invited to a second round of voting, preceded by discussion of the “hot topics” identified in the first round. Results The first round of the Delphi consensus involved 101 experts; 71 (70%) also took part in the second round of voting. The Advisory Board deemed 22 items to be worthy of debate, and these underwent the second round of voting. “Real-life” results from the survey proved quite different from evidence-based recommendations. Conclusion Although guidelines suggest the best approach for a “standard” patient, real-life settings require flexibility. Diagnostic and therapeutic approaches should be tailored to the patients’ needs. Phosphodiesterase type 5 inhibitors are recognized as the first-line therapy in both settings, including the newly introduced sildenafil orodispersible film. Indications from the panel might help close the gap between recommendations from guidelines and real-life practice in relation to the diagnosis and treatment of erectile dysfunction.

The Developmental Coordination Disorder Questionnaire 2007 (Wilson et al., 2007) is a parent-completed screening tool for motor coordination. It has been recently translated into Italian and adapted to the Italian culture (Caravale, Baldi, Gasparini & Wilson, 2014). This work presents an investigation conducted on 312 Italian subjects aged 5-12 years. The Italian version of DCDQ'07 revealed a good internal consistency. A good convergent validity was also proved analyzing the scores of 70 participants who were administered the Movement Assessment Battery for Children (Henderson & Sudgen, 1992) in addition to the DCDQ'07. Clinical and research applications of DCDQ'07 are discussed.

Aim This study was conducted to develop and validate a new self-report questionnaire for measuring quality of life (QoL), at school age, in children with a very low birthweight (VLBW). Method Through a focus group approach, children were involved directly in defining the questionnaire items, which were presented as illustrations rather than written questions. This preliminary validation of the questionnaire was conducted in 152 participants with VLBW (aged 7–11y) randomly selected from the five participating Italian centres. The questionnaire was completed by children and parents separately; data on children's demographic and medical history, and intellectual, adaptive, and behavioural functioning were collected using standardized scales. All the children also completed the Paediatric Quality of Life Inventory (PedsQL), another Italian-language measure of QoL in children. Results Our questionnaire was readily accepted and understood, and quick to complete. The Cronbach's alpha value showed it to be a reliable instrument. The child-compiled version correlated well with the PedsQL, whereas no correlations emerged with the other scales used, IQ, or degree of impairment. Conversely, these variables correlated significantly with the parent-compiled version. Children's and parents’ answers were divergent on practically all the items. Interpretation The results confirm the validity of the new instrument and highlight a poor overlap between parents’ and children's perspectives.

The huge amount of files of different types (from photos, personal documents, to accounting or fiscal documents) which everyone stores in his own personal computer or in other hardware device (such as internet virtual space, external hard drives, etc.) risk, with the passing of time, to go lost. The founding idea of the eSCI project (eStore of Captured Information) is just to avoid the accidental loss of files, proposing to develop a web portal which allows the user to safely store his own documents and to retrieve them whenever he wants through a simple internet connection. Within the scope of this research project, the reached objective was double: first to assist the user in the document indexing activity, leading him to define the right keywords able to univocally characterize each file; in this way the user doesn’t index the document only though its file name but also providing more precise information about its content. This allows to characterize the document according to a semantic meaning which will make its retrieval easier. At the same time, we would develop a software architecture that should be able to automatically generate the right data entry forms needed to index each particular class of documents, avoiding the expensive activities of the evolutive maintenance of the application. We made use of ontologies to express the real semantic value that each document could hide, simplifying their indexing and retrieval.

Nowadays the term “eLearning” is used interchangeably in so many contexts that it is critical to be clear what one means when one speaks of it, and it is gaining increasing momentum as a teaching approach, both for education and training. In the field of e-learning we focalize our research on the “collaborative learning” paradigm. In this paper, we advocate the necessity to intermingle the present e-Learning approach, mainly based on bi-dimensional multimedia presentation of the contents, with new types of eLearning, based on the exploitation of high-defined 3D representation, thus adding one dimension to the current way of thinking eLearning. To this end, we chose to start our research creating a 3D CVE system, based on a rendering engine borrowed by the serious game world. This class of engines brings up high-definition rendering features with an high engagement level during the game experience. To use this kind of applications in eLearning scenarios, we need to add specific multiuser capabilities (to enhance user-user collaboration) and the possibility to simply configure the learning session. To this end we present OpenWebTalk, a framework to support high performances and high resolution 3D collaborative experiences, that is based on the experience we have done with WebTalk, a 3D CVE system mainly used for collaborative educational aims, to support, in a flexible way, high performances real-time collaboration. The paper will show the framework’s capabilities to configure itself on the basis of an XML meta-model declaration language representing not only workspace, but also interaction rules shared within the 3D users during the collaborative experiences. This would allow the fast prototyping of a large number of 3D learning session in an easy way without spending much time in reprogramming the system. Moreover the use of photo-realistic graphics should enhance the level of engagement during the collaborative learning experiences conveying these virtual environments a high sense of virtual presence. The OpenWebTalk photo-realistic rendering capabilities will allow us to use this architecture in a large range of eLearning applications. After the in-detail framework description, we present the results of an early experimentation performed by two teams of students. This results will show how the framework’s performances scale with the scene complexity, and with the number of users concurrently connected.

The short stature homeobox-containing (SHOX) gene lies in the pseudoautosomal region 1 (PAR1) that comprises 2.6 Mb of the short-arm tips of both the X and Y chromosomes. It is known that its heterozygous mutations cause Leri-Weill dyschondrosteosis (LWD) (OMIM #127300), while its homozygous mutations cause a severe form of dwarfism known as Langer mesomelic dysplasia (LMD) (OMIM #249700). The analysis of 238 LWD patients between 1998 and 2007 by multiple authors shows a prevalence of deletions (46.4%) compared to point mutations (21.2%). On the whole, deletions and point mutations account for about 67% of LWD patients. SHOX is located within a 1000 kb desert region without genes. The comparative genomic analysis of this region between genomes of different vertebrates has led to the identification of evolutionarily conserved non-coding DNA elements (CNE). Further functional studies have shown that one of these CNE downstream of the SHOX gene is necessary for the expression of SHOX; this is considered to be typical "enhancer" activity. Including the enhancer, the overall mutation of the SHOX region in LWD patients does not hold in 100% of cases. Various authors have demonstrated the existence of other CNE both downstream and upstream of SHOX regions. The resulting conclusion is that it is necessary to reanalyze all LWD/LMD patients without SHOX mutations for the presence of mutations in the 5'- and 3'-flanking SHOX regions.

The Freight Management Systems are conditioned by complex problems, that strongly affect the quality of service and the supply costs. The conjoint planning among withdrawal and delivery, the shipment procedures, the ability calculation, the staff scheduling, the vehicle availability, the distance optimization are only some of the activities connected to the such management systems. In this scenario, arises the need to use platforms able to support the interoperability among heterogeneous systems and provide the multi-channel facilities to allow the use of diversified devices to access different services in reliable manner and to allow, so, a extended market towards partner with particular needs. In this paper we propose, on one hand, an integrated system (Dialog Project) for goods reception and delivery based on a Decision Support System able to manage all the movements flow in order to reduce, or eventually to eliminate, the cost of return fare of the empty vehicle and to optimize the carrier freight according to type and distribution route of goods; on the other, we propose also a B2B oriented framework able to support the interoperability among heterogeneous systems developed according to the ebXML reference model for the business messages interchange. This system is suitable to any B2B marketplace that foresees the commercial interaction among partners with different roles and profiles (including channel and device).