Lysosomal storage disorders: molecular basis andlaboratory testing.

Lysosomal storage disorders (LSDs) are a large group of more than 50 different inherited metabolic diseases which, in the great majority of cases, result from the defective function of specific lysosomal enzymes and, in cases, of non-enzymatic lysosomal proteins or non-lysosomal proteins involved in lysosomal biogenesis. The progressive lysosomal accumulation of undegraded metabolites results in generalised cell and tissue dysfunction, and, therefore, multi-systemic pathology. Storage may begin during early embryonic development, and the clinical presentation for LSDs can vary from an early and severe phenotype to late-onset mild disease. The diagnosis of most LSDs--after accurate clinical/paraclinical evaluation, including the analysis of some urinary metabolites--is based mainly on the detection of a specific enzymatic deficiency. In these cases, molecular genetic testing (MGT) can refine the enzymatic diagnosis. Once the genotype of an individual LSD patient has been ascertained, genetic counselling should include prediction of the possible phenotype and the identification of carriers in the family at risk. MGT is essential for the identification of genetic disorders resulting from non-enzymatic lysosomal protein defects and is complementary to biochemical genetic testing (BGT) in complex situations, such as in cases of enzymatic pseudodeficiencies. Prenatal diagnosis is performed on the most appropriate samples, which include fresh or cultured chorionic villus sampling or cultured amniotic fluid. The choice of the test--enzymatic and/or molecular--is based on the characteristics of the defect to be investigated. For prenatal MGT, the genotype of the family index case must be known. The availability of both tests, enzymatic and molecular, enormously increases the reliability of the entire prenatal diagnostic procedure. To conclude, BGT and MGT are mostly complementary for post- and prenatal diagnosis of LSDs. Whenever genotype/phenotype correlations are available, they can be helpful in predicting prognosis and in making decisions about therapy

Effectiveness of moving on: an Australian designed generic self-management program for people with a chronic illness

Background: This paper presents the evaluation of “Moving On”, a generic self-management program for people with a chronic illness developed by Arthritis NSW. The program aims to help participants identify their need for behavior change and acquire the knowledge and skills to implement changes that promote their health and quality of life. Method: A prospective pragmatic randomised controlled trial involving two group programs in community settings: the intervention program (Moving On) and a control program (light physical activity). Participants were recruited by primary health care providers across the north-west region of metropolitan Sydney, Australia between June 2009 and October 2010. Patient outcomes were self-reported via pre- and post-program surveys completed at the time of enrolment and sixteen weeks after program commencement. Primary outcomes were change in self-efficacy (Self-efficacy for Managing Chronic Disease 6-Item Scale), self-management knowledge and behaviour and perceived health status (Self-Rated Health Scale and the Health Distress Scale). Results: A total of 388 patient referrals were received, of whom 250 (64.4%) enrolled in the study. Three patients withdrew prior to allocation. 25 block randomisations were performed by a statistician external to the research team: 123 patients were allocated to the intervention program and 124 were allocated to the control program. 97 (78.9%) of the intervention participants commenced their program. The overall attrition rate of 40.5% included withdrawals from the study and both programs. 24.4% of participants withdrew from the intervention program but not the study and 22.6% withdrew from the control program but not the study. A total of 62 patients completed the intervention program and follow-up evaluation survey and 77 patients completed the control program and follow- up evaluation survey. At 16 weeks follow-up there was no significant difference between intervention and control groups in self-efficacy; however, there was an increase in self-efficacy from baseline to follow-up for the intervention participants (t=−1.948, p=0.028). There were no significant differences in self-rated health or health distress scores between groups at follow-up, with both groups reporting a significant decrease in health distress scores. There was no significant difference between or within groups in self-management knowledge and stage of change of behaviours at follow-up. Intervention group attenders had significantly higher physical activity (t=−4.053, p=0.000) and nutrition scores (t=2.315, p= 0.01) at follow-up; however, these did not remain significant after adjustment for covariates. At follow-up, significantly more participants in the control group (20.8%) indicated that they did not have a self-management plan compared to those in the intervention group (8.8%) (X2=4.671, p=0.031). There were no significant changes in other self-management knowledge areas and behaviours after adjusting for covariates at follow-up. Conclusions: The study produced mixed findings. Differences between groups as allocated were diluted by the high proportion of patients not completing the program. Further monitoring and evaluation are needed of the impact and cost effectiveness of the program. Trial registration: Australian New Zealand Clinical Trials Registry: ACTRN1260900029821

MoGeo, a Mobile Application to Promote Geotourism in Molise Region (Southern Italy)

Geotourism represents a powerful and new form of sustainable tourism that has rapidly expanded worldwide over the last decades. To promote it, the use of digital and geomatic tools is becoming of increasing importance. Especially mobile information represents one of the most efficient and smart ways to bring geotourism closer to a wide audience. This applies in particular to rural and inner areas, where the exploitation of geoheritage can represent a crucial resource for eco-friendly and sustainable tourism development. With the aim to promote geotourism on a regional scale, we have implemented a mobile devise application for Molise region, tested in the Alto Molise area. This application, called MoGeo App, aims at providing diversified geotourism information that combines geologic attractions (geosites and geologic itineraries) with other possible tourist attractions (other sites of natural and cultural interest), to respond to differentiated interests and needs of a wide audience. Besides geotourism purposes, the structure of MoGeo App can be used also for other purposes such as educational targets, by adapting contents and language. It appears to be a flexible, easily updatable digital tool, adaptable to various target groups, as well as other regional contexts, both inside and outside of Italy

Absence of severe complications from SARS-CoV-2 infection in children with rheumatic diseases treated with biologic drugs

We read with interest the Editorial by Cron and Chatam (1) suggesting a cytokine storm syndrome (CSS) occurring in response to SARS-CoV-2 infection and, consequently, a possible role for targeted approaches to blocking inflammatory cytokines

Quaternary evolution of the lower calore and middle volturno valleys (Southern Italy)

The lower Calore and middle Volturno valleys preserve stratigraphical and morphological evidence and tephrostratigraphic markers particularly suitable for reconstructing the long-term geomorphological evolution of the central-southern Apennines. Aim of our study is to identify the main steps of the Quaternary landscape evolution of these valley systems and to improve knowledge about the relationships between fluvial processes and tectonics, volcanic activity, climatic and human influences. To this purpose, we carried out an integrated geomorphological and chronostratigraphical analysis of identified fluvial landforms and related deposits, integrated by230Th/234U datings on travertines from the Telese Plain area. The study highlighted in particular: (1) fluvial sedimentation started in the Middle Pleistocene (~650 ka) within valleys that originated in the lower Pleistocene under the control of high-angle faults; (2) extensional tectonics acted during the Middle and Upper Pleistocene, driving the formation of the oldest fluvial terraces and alluvial fans, and persisted beyond the emplacement of the Campanian Ignimbrite pyroclastic deposits (~39 ka); and (3) from the late Upper Pleistocene onwards (<15 ka), the role of tectonics appears negligible, while climatic changes played a key role in the formation of three orders of valley floor terraces and the youngest alluvial fans

Serious Games for Wrist Rehabilitation in Juvenile Idiopathic Arthritis

Rehabilitation is a painful and tiring process involving series of exercises that patients must repeat over a long period. Unfortunately, patients often grow bored, frustrated, and lose motivation making rehabilitation less effective. In the recent years video games have been widely used to implement rehabilitation protocols so as to make the process more entertaining, engaging and to keep patients motivated. In this paper, we present an integrated framework we developed for the wrist rehabilitation of patients affected by Juvenile Idiopathic Arthritis (JIA) following a therapeutic protocol at the Clinica Pediatrica G. e D. De Marchi. The framework comprises four video games and a set modules that let the therapists tune and control the exercises the games implemented, record all the patients actions, replay and analyze the sessions. We present the result of a preliminary validation we performed with four poliarticular JIA patients at the clinic under the supervision of the therapists. Overall, we received good feedback both from the young patients, who enjoyed performing known rehabilitation exercises using video games, and therapists who were satisfied with the framework and its potentials for engaging and motivating the patients