Biomechanical Strengthening of the Human Cornea Induced by Nanoplatform-Based Transepithelial Riboflavin/UV-A Corneal Cross-Linking

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Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

Complex chromosome rearrangements are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. These are rarely seen in the general population but their frequency should be much higher due to balanced states with no phenotypic presentation. These abnormalities preferentially occur de novo during spermatogenesis and are transmitted in families through oogenesis

179. Correcting the Bleeding Phenotype in Hemophilia Ausing Lentivirally FVIII-Corrected Endothelial Cells Differentiated from Hemophilic Induced Pluripotent Stem Cell (iPSC)

Hemophilia A (HA) is a bleeding disorder caused by factor VIII (FVIII) gene mutations.Somatic cells can be reprogrammed to generate autologous, disease-free iPSCs, then differentiated into cell targetsrelevant for gene and cell therapy. Our aim is to develop a novel HA treatment strategy generating FVIII-corrected patient-specific iPSCs from peripheral blood cells anddifferentiating them into functional endothelial cells (ECs), secreting FVIII after transplantation

Skin homing of Sézary cells involves SDF-1-CXCR4 signaling and down-regulation of CD26/dipeptidylpeptidase IV

AbstractSézary syndrome (SS) is a rare form of cutaneous T-cell lymphoma (CTCL) characterized by a distinct metastatic pattern mainly involving blood and skin. Chemokines and their receptors play a critical role in cellular recruitment and homing to tissues and in the metastatic process of several tumors including non-Hodgkin T-cell lymphomas (NHLs). Here we report that SS cells express a functionally active CXCR4 and that its ligand SDF-1 is abundantly produced in the skin, which represents the main destination of SS cell spreading. SDF-1 is normally inactivated by proteolytic cleavage by the CD26/dipeptidylpeptidase IV (DPPIV). The lack of CD26 from the cell surface is a hallmark of circulating SS cells. We also show that the CD26- phenotype is maintained also in skin-infiltrating neoplastic T lymphocytes and that SS-affected individuals exhibit a reduced activity of plasma soluble CD26. Finally, we observe that the addition of soluble CD26 reduces the migratory response of SS cells to SDF-1 whereas the inhibition of the CD26 peptidase activity in Hut78, a CD26+ CTCL cell line, enhances the SDF-1-induced migration of these cells. Our findings suggest that the SDF-1-CXCR4 axis could play an important role in skin homing of SS through the regulatory activity of CD26

Use of information and communication technologies (ICTs) in cancer multidisciplinary team meetings: an explorative study based on EU healthcare professionals

Objectives: Multidisciplinary teams in cancer care are increasingly using information and communication technology (ICT), hospital health information system (HIS) functionalities and ICT-driven care components. We aimed to explore the use of these tools in multidisciplinary team meetings (MTMs) and to identify the critical challenges posed by their adoption based on the perspective of professionals representatives from European scientific societies. Design: This qualitative study used discussion of cases and focus group technique to generate data. Thematic analysis was applied. Setting: Healthcare professionals working in a multidisciplinary cancer care environment. Participants: Selection of informants was carried out by European scientific societies in accordance with professionals' degree of experience in adopting the implementation of ICT and from different health systems. Results: Professionals representatives of 9 European scientific societies were involved. Up to 10 ICTs, HIS functionalities and care components are embedded in the informational and decision-making processes along three stages of MTMs. ICTs play a key role in opening MTMs to other institutions (eg, by means of molecular tumour boards) and information types (eg, patient-reported outcome measures), and in contributing to the internal efficiency of teams. While ICTs and care components have their own challenges, the information technology context is characterised by the massive generation of unstructured data, the lack of interoperability between systems from different hospitals and HIS that are conceived to store and classify information rather than to work with it. Conclusions: The emergence of an MTM model that is better integrated in the wider health system context and incorporates inputs from patients and support systems make traditional meetings more dynamic and interconnected. Although these changes signal a second transition in the development process of multidisciplinary teams, they occur in a context marked by clear gaps between the information and management needs of MTMs and the adequacy of current HIS

Management of motor rehabilitation in individuals with muscular dystrophies. : 1st Consensus Conference report from UILDM – Italian Muscular Dystrophy Association (Rome, January 25-26, 2019)

Muscular dystrophy (MD) is a group of neuromuscular diseases characterized by progressive muscle weakness due to various mutations in several genes involved in muscle structure and function. The age at onset, evolution and severity of the different forms of MD can vary and there is often impairment of motor function and activities of daily living. Although there have been important scientific advances with regard to pharmacological therapies for many forms of MD, rehabilitation management remains central to ensuring the patient’s psychophysical well-being. Here we report the results of an Italian consensus conference promoted by UILDM (Unione Italiana Lotta alla Distrofia Muscolare, the Italian Muscular Dystrophy Association) in order to establish general indications and agreed protocols for motor rehabilitation of the different forms of MD

Positive effects of physical activity in autism spectrum disorder: how influences behavior, metabolic disorder and gut microbiota

Autism spectrum disorder is a neurodevelopmental disorder characterized by social interactions and communication skills impairments that include intellectual disabilities, communication delays and self-injurious behaviors; often are present systemic comorbidities such as gastrointestinal disorders, obesity and cardiovascular disease. Moreover, in recent years has emerged a link between alterations in the intestinal microbiota and neurobehavioral symptoms in children with autism spectrum disorder. Recently, physical activity and exercise interventions are known to be beneficial for improving communication and social interaction and the composition of microbiota. In our review we intend to highlight how different types of sports can help to improve communication and social behaviors in children with autism and also show positive effects on gut microbiota composition