| Name | Paolo |
| Surname | Melillo |
| Institution | Università degli Studi della Campania Luigi Vanvitelli |
| paolo.melillo@unicampania.it | |
| Address | Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy |
To evaluate differences in the visual phenotype and natural history of Usher syndrome caused by mutations in MYO7A or USH2A, the most commonly affected genes of Usher syndrome Type I (USH1) and Type II (USH2), respectively.
To evaluate the functional recovery of patients with symptomatic vitreomacular traction (VMT) after Ocriplasmin treatment.
We investigated the progression of Stargardt disease (STGD1) over a multiyear follow-up by evaluating the macular lesion area as computed by an automatic algorithm from spectral-domain optical coherence tomography (SD-OCT).
Gene therapy clinical trials with gene augmentation therapy for Leber Congenital Amaurosis have shown partial reversal of retinal dysfunction. Most studies described the effect of treatment in a single eye and limited evidence is reported in literature about patients treated in both eyes. In this chapter, we present the findings of a young patient treated in both eyes. Efficacy of the treatment was assessed with Best Corrected Visual Acuity, Goldman Visual Field testing, Esterman computerized binocular visual field and Microperimetric testing. Post-treatment results showed improvement of visual function in both eyes, in particular, a strong amelioration was observed after the first injection, by using conventional monocular tests. Moreover, the treatment in the second eye resulted in a further improvement of binocular visual functionality, as easily detected by computerized binocular visual field. In conclusion, our data suggest that gene therapy can inhibit retinal degeneration and can be safe and effective in restoring visual functionality in young subjects treated in both eyes. Finally, new outcome measurements, in particular binocular computerized visual field parameters, can therefore be useful to quantify overall visual gain in patients undergoing gene therapy in both eyes.
To assess whether and to what extent macro- and/or microstructural modifications are present in the brain of patients with selective central visual loss due to a juvenile macular degeneration, Stargardt's disease (STGD), taking advantage of the complementary information provided by voxel-based morphometry (VBM) and diffusion tensor imaging (DTI).
Previous studies described cases of Ocriplasmin injections in patients with vitreo-macular traction and reduced central visual acuity. We describe the first case of a patient with 20/20 visual acuity and vitreo-macular traction treated with Ocriplasmin, and, for the first time in literature, we evaluated the functional changes of the macula in response to pharmacological treatment through multifocal-electroretinogram.
The aim of this paper is to describe the design and the preliminary validation of a platform developed to collect and automatically analyze biomedical signals for risk assessment of vascular events and falls in hypertensive patients. This m-health platform, based on cloud computing, was designed to be flexible, extensible, and transparent, and to provide proactive remote monitoring via data-mining functionalities. A retrospective study was conducted to train and test the platform. The developed system was able to predict a future vascular event within the next 12 months with an accuracy rate of 84 % and to identify fallers with an accuracy rate of 72 %. In an ongoing prospective trial, almost all the recruited patients accepted favorably the system with a limited rate of inadherences causing data losses (<20 %). The developed platform supported clinical decision by processing tele-monitored data and providing quick and accurate risk assessment of vascular events and falls.
Accidental falls are a major problem of later life. Different technologies to predict falls have been investigated, but with limited success, mainly because of low specificity due to a high false positive rate. This Letter presents an automatic classifier based on heart rate variability (HRV) analysis with the goal to identify fallers automatically. HRV was used in this study as it is considered a good estimator of autonomic nervous system (ANS) states, which are responsible, among other things, for human balance control. Nominal 24 h electrocardiogram recordings from 168 cardiac patients (age 72 ± 8 years, 60 female), of which 47 were fallers, were investigated. Linear and nonlinear HRV properties were analysed in 30 min excerpts. Different data mining approaches were adopted and their performances were compared with a subject-based receiver operating characteristic analysis. The best performance was achieved by a hybrid algorithm, RUSBoost, integrated with feature selection method based on principal component analysis, which achieved satisfactory specificity and accuracy (80 and 72%, respectively), but low sensitivity (51%). These results suggested that ANS states causing falls could be reliably detected, but also that not all the falls were due to ANS states.
There is consensus that Heart Rate Variability is associated with the risk of vascular events. However, Heart Rate Variability predictive value for vascular events is not completely clear. The aim of this study is to develop novel predictive models based on data-mining algorithms to provide an automatic risk stratification tool for hypertensive patients.
Single-access laparoscopic surgery is not used routinely for the treatment of colorectal disease. The aim of this retrospective cohort study is to compare the results of single-access laparoscopic rectal resection (SALR) versus multiaccess laparoscopic rectal resection with a mean follow-up of 24 months.