Retinitis pigmentosa and ocular motility alterations: new frontiers, review

Purpose: To carry out a review of the literature on alterations in extraocular motility in Retinitis Pigmentosa (RP), focusing on the possible genetic basis of ocular alterations. Design: Systematic review Methods: The search of publications was carried out using the databases: Scopus, PubMed, Google Scholar, Web of Science, considering clinical cases, case reports, and systematic reviews of ocular motility alterations in the Retinitis Pigmentosa in the literature. The words: “ocular motility alterations, Retinitis Pigmentosa, orthoptic evaluation, case reports, clinical cases, systematic reviews” were used. Results: A total of 2 articles from 2006–2022 were retrieved: No other ocular motility alterations clinical cases linked to RP were found before. Particularly, a study conducted on patients affected by typical RP showed that there was an impaired motility in 50% of them. Since RP is a genetically determined disease, in reference to the studies analyzed, the absence of eye movement disorders in a percentage of the sample could be related to the different penetrance of the disease that determines the existence of healthy carriers. Conclusion: Therefore, it would be important to search for a possible correlation between the genetic mutations involved in this hereditary disorder and the deficits in extraocular motility, in order to make an early diagnosis of RP in genetically predisposed subjects. The existence of alterations of extraocular motility in subjects with RP, indicates that a careful orthoptic screening can allow a further contribution to an early diagnosis of this disease, especially in subjects with positive family history and healthy carriers

enabling access to astronomical databases through the grid a case study

In recent years great efforts have been spent in the astronomical community to allow a global and seamless electronic access to distributed astronomical data repositories, and to enable scientific analysis on them. A system capable of providing these services over distributed databases and computer resources is called a Virtual Observatory (VO). VOs are still in the study phase, with many projects around the world now delivering their first prototype implementations. In the meanwhile grid technologies have started to emerge and consolidate and are now expected to play a fundamental role in the development of Astrophysical Virtual Observatories. We report here about our activities aimed at integrating in the grid environment a system, developed in Padova, specifically designed for accessing very large astronomical catalogues. We evaluated several possible solutions, including the use of a tool for accessing databases developed by the European Data Grid (EDG) project, but finally we decided to adopt a web services based architecture, retaining the security infrastructure provided by the EDG software. We plan to evolve towards an implementation fully compliant with the latest Open Grid Service Architecture specification, but without loosing compatibility with the grid middleware adopted in our project. This work is being conducted in the framework of Grid.it, a project, funded by the Italian Ministry for Education, University and Research, aimed at studying a grid infrastructure for scientific research in Italy and developing specific software tools and protype applications that run on it. This catalogue access system will eventually become one of the first building blocks of the Italian Virtual Observatory, currently under development in the framework of a closely-related project, named DRACO. To this end, starting from the design phase of our system, and where applicable, we adopted the standards set forth by the International Virtual Observatory Alliance (IVOA)

Psychosocial and biological determinants of ill health in relation to deprivation

Background: Despite public health campaigns and improvements in healthcare, socioeconomic gradients in health and life expectancy persist, and in many cases are becoming more marked – the gradient in coronary heart disease being a prime example. Classic cardiovascular risk factors (e.g. smoking, cholesterol and blood pressure) only partially explain the deprivation effect, and attempts to narrow the health gap by focussing on such risk factors do not appear to be succeeding. There also appear to be socioeconomic differences in uptake of healthy lifestyle advice. The work described in this thesis aimed to expand current understanding of the deprivation-based gap in health and life expectancy, focussing particularly on the socioeconomic gradient in cardiovascular risk. Methods: Using a cross-sectional, population-based study design based in the Greater Glasgow area, 666 participants were selected on the basis of area-level social deprivation (Scottish Index for Multiple Deprivation ranking). The study was designed to include approximately equal numbers from most deprived and least deprived areas; equal numbers of male and female participants and equal numbers of participants from each age group studied (35-44; 45-54 and 55-64 years). Participants completed an extensive questionnaire on health, lifestyle and early life experiences. Anthropometric measures (height, leg length, weight, waist, hip and thigh circumferences) were recorded. Blood pressure, heart rate and parameters of lung function (Forced Expiratory Volume in 1 second [FEV1] and Forced Vital Capacity [FVC]) were recorded. Psychological assessments (General Health Questionnaire-28, Generalised Self-Efficacy Scale, Sense of Coherence Scale, Beck Hopelessness Scale, Eysenck Personality Scale and Rosenberg Self-Esteem Scale) and assessments of cognitive function (Auditory Verbal Learning Test, Choice Reaction Time and Stroop Test) were undertaken. Fasting blood samples were obtained for classic and emerging cardiovascular risk factors including lipid profile, glucose, insulin, leptin, adiponectin, C-reactive protein, interleukin-6, soluble intercellular adhesion molecule-1, von Willebrand Factor, fibrinogen, D-dimer and tissue plasminogen activator antigen. Carotid ultrasound assessment of intima-media thickness (cIMT), plaque score and arterial stiffness was performed. Results: Total and low density lipoprotein cholesterol were significantly higher in the least deprived group (both p<0.0001). Triglycerides were higher and high density lipoprotein cholesterol lower in the most deprived group (both p<0.0001). Fasting glucose, insulin and leptin were higher in the most deprived group. C-reactive protein, interleukin-6 and soluble intercellular adhesion molecule-1 were higher in the most deprived group (all p<0.0001). Von Willebrand factor, fibrinogen and D-dimer were higher in the most deprived group. Age- and sex-adjusted cIMT was significantly higher in the most deprived group, but on subgroup analysis this difference was only apparent in the highest age tertile in males (>56.3 years). Plaque score showed a much more highly significant deprivation difference in the group as a whole (p<0.0001). No differences in parameters of arterial stiffness were found between the most deprived and least deprived groups. Neither adjustment for classic nor emerging cardiovascular risk factors, either alone or in combination, abolished the area-level deprivation-based difference in plaque presence or cIMT. Adjustment for early life markers of socioeconomic status in addition to classic cardiovascular risk factors abolished the deprivation-based difference in plaque presence. Further associations between early life factors and health outcomes were noted: lung function (FEV1) and cognitive performance appeared to be influenced by father’s occupation, whether the parents/guardians were owner-occupiers or tenants, and by degree of overcrowding; cIMT was modestly related to father’s occupation and carotid plaque was related strongly to father’s occupation and parental home status. Socioeconomic differences were noted in the impact of personality in determining mental wellbeing, and also in relation to the health behaviours of fruit and vegetable consumption and smoking cessation. Conclusions: The relationship between social deprivation and health is complex and multifactorial and appears to involve the interplay of early life factors, biological mediators, psychological parameters such as personality and cognitive function, health behaviours and outcomes such as atherosclerosis. Approaches aiming to narrow the deprivation gap in health will need to be designed to take into account this complexity, addressing factors such as early life experiences and personality, as well as the more classically recognised factors such as smoking, cholesterol and blood pressure, if they are to have a chance of succeeding in improving the health of those most in need.EThOS - Electronic Theses Online ServiceGBUnited Kingdo

Large-scale spatial distribution of virioplankton in the adriatic sea: Testing the trophic state control hypothesis

Little is known concerning environmental factors that may control the distribution of virioplankton on large spatial scales. In previous studies workers reported high viral levels in eutrophic systems and suggested that the trophic state is a possible driving force controlling the spatial distribution of viruses. In order to test this hypothesis, we determined the distribution of viral abundance and bacterial abundance and the virus-to-bacterium ratio in a wide area covering the entire Adriatic basin (Mediterranean Sea). To gather additional information on factors controlling viral distribution on a large scale, functional microbial parameters (exoenzymatic activities, bacterial production and turnover) were related to trophic gradients. At large spatial scales, viral distribution was independent of autotrophic biomass and all other environmental parameters. We concluded that in contrast to what was previously hypothesized, changing trophic conditions do not directly affect virioplankton distribution. Since virus distribution was coupled with bacterial turnover times, our results suggest that viral abundance depends on bacterial activity and on host cell abundance

Large-Scale Spatial Distribution of Virioplankton in the Adriatic Sea: Testing the Trophic State Control Hypothesis

Little is known concerning environmental factors that may control the distribution of virioplankton on large spatial scales. In previous studies workers reported high viral levels in eutrophic systems and suggested that the trophic state is a possible driving force controlling the spatial distribution of viruses. In order to test this hypothesis, we determined the distribution of viral abundance and bacterial abundance and the virus-to-bacterium ratio in a wide area covering the entire Adriatic basin (Mediterranean Sea). To gather additional information on factors controlling viral distribution on a large scale, functional microbial parameters (exoenzymatic activities, bacterial production and turnover) were related to trophic gradients. At large spatial scales, viral distribution was independent of autotrophic biomass and all other environmental parameters. We concluded that in contrast to what was previously hypothesized, changing trophic conditions do not directly affect virioplankton distribution. Since virus distribution was coupled with bacterial turnover times, our results suggest that viral abundance depends on bacterial activity and on host cell abundance