on Ophthalmic genetics
by Testa F, Di Iorio V, Gallo B, Marchese M, Nesti A, De Rosa G, Melillo P, Simonelli F
: Currently there is no medical treatment for X-linked retinoschisis (XLRS). In many retinal dystrophies, carbonic anhydrase inhibitors (CAIs) are effectively used to reduce cystoid macular edema. Prospective studies investigating the effect of CAIs in patients with XLRS are needed for the evaluation of their efficacy in this disease. The purpose of our work is to investigate the effects on macular morphology and function of oral CAIs used for the treatment of foveal lesions in patients with XLRS. : Nineteen patients with a clinical diagnosis of XLRS were enrolled and prescribed oral CAIs for six months. We evaluated the therapeutic effect of CAIs with: best-corrected visual acuity (BCVA), spectral-domain optical coherence tomography, microperimetry (MP) and multifocal electroretinography (mfERG). : We observed a significant improvement of BCVA (p-value = 0.013), central retinal thickness (p-value = 0.004) and macular sensitivity (p-value<0.001). Moreover, in regards to mfERG responses, an increase of P1 wave amplitude was observed in three of the six rings. : Our data supports the efficacy of oral CAIs for the treatment of macular cyst-like lesions in XLRS patients. The recovery of a normal retinal anatomy by means of oral CAIs could be useful to create the optimal circumstances for gene therapy. The increase in macular sensitivity and in P1 wave amplitude confirmed that MP and mfERG provide with an unbiased and more sensitive understanding of how macular function may respond to the use of CAIs. Therefore, we recommend the use of MP and mfERG to assess the effect of therapy in XLRS.
on Investigative ophthalmology & visual science
by Di Iorio V, Esposito G, De Falco F, Boccia R, Fioretti T, Colucci R, De Rosa G, Melillo P, Salvatore F, Simonelli F, Testa F
To evaluate the disease progression in patients with clinical and genetic diagnoses of choroideremia during a long-term follow-up and to investigate the relationship between pathogenic variants in the CHM/REP1 gene and disease phenotypes.
on BMC medical informatics and decision making
by Castaldo R, Montesinos L, Melillo P, James C, Pecchia L
This paper suggests a method to assess the extent to which ultra-short Heart Rate Variability (HRV) features (less than 5 min) can be considered as valid surrogates of short HRV features (nominally 5 min). Short term HRV analysis has been widely investigated for mental stress assessment, whereas the validity of ultra-short HRV features remains unclear. Therefore, this study proposes a method to explore the extent to which HRV excerpts can be shortened without losing their ability to automatically detect mental stress.
on International journal of surgery (London, England)
by Bracale U, Melillo P, Piaggio D, Pecchia L, Cuccurullo D, Milone M, De Palma GD, Cavallaro G, Campanelli G, Merola G, Stabilini C
Current guidelines state that the Shouldice technique has lower recurrence rates than other suture repairs and therefore is strongly recommended in non-mesh inguinal hernia repair. Recently a new tissue repair technique has been proposed by Desarda and studied in trials against Lichtenstein technique.
on Retina (Philadelphia, Pa.)
by Di Iorio V, Orrico A, Esposito G, Melillo P, Rossi S, Sbordone S, Auricchio A, Testa F, Simonelli F
To investigate the natural history of Stargardt disease over a multiyear follow-up.
on Healthcare technology letters
by Pecchia L, Castaldo R, Montesinos L, Melillo P
Ultra-short heart rate variability (HRV) analysis refers to the study of HRV features in excerpts of length <5 min. Ultra-short HRV is widely growing in many healthcare applications for monitoring individual's health and well-being status, especially in combination with wearable sensors, mobile phones, and smart-watches. Long-term (nominally 24 h) and short-term (nominally 5 min) HRV features have been widely investigated, physiologically justified and clear guidelines for analysing HRV in 5 min or 24 h are available. Conversely, the reliability of ultra-short HRV features remains unclear and many investigations have adopted ultra-short HRV analysis without questioning its validity. This is partially due to the lack of accepted algorithms guiding investigators to systematically assess ultra-short HRV reliability. This Letter critically reviewed the existing literature, aiming to identify the most suitable algorithms, and harmonise them to suggest a standard protocol that scholars may use as a reference in future studies. The results of the literature review were surprising, because, among the 29 reviewed papers, only one paper used a rigorous method, whereas the others employed methods that were partially or completely unreliable due to the incorrect use of statistical tests. This Letter provides recommendations on how to assess ultra-short HRV features reliably and proposes an inclusive algorithm that summarises the state-of-the-art knowledge in this area.
on Investigative ophthalmology & visual science
by Melillo P, Prinster A, Di Iorio V, Olivo G, D'Alterio FM, Cocozza S, Orrico A, Quarantelli M, Testa F, Brunetti A, Simonelli F
Primary visual cortex (PVC) contains a retinotopic map in which the central visual field (CVF) is highly magnified compared to the peripheral field. Several studies have used functional magnetic resonance imaging (fMRI) in patients with macular degeneration to assess the reorganization of visual processing in relationship with the development of extrafoveal preferred retinal locus (PRL). We evaluated the functional response in PVC and its correlation with retinal parameters in patients with Stargardt disease due to ABCA4 mutations (STGD1).
on Ophthalmic genetics
by Testa F, Melillo P, Rossi S, Marcelli V, de Benedictis A, Colucci R, Gallo B, Brunetti-Pierri R, Donati S, Azzolini C, Marciano E, Simonelli F
To investigate the prevalence of macular abnormalities in patients affected by Usher syndrome (USH), by comparing the clinical findings between two types (i.e., USH1 and USH2).
on IEEE journal of translational engineering in health and medicine
by Melillo P, Riccio D, Di Perna L, Sanniti Di Baja G, De Nino M, Rossi S, Testa F, Simonelli F, Frucci M
Color vision deficiency (CVD) is an extremely frequent vision impairment that compromises the ability to recognize colors. In order to improve color vision in a subject with CVD, we designed and developed a wearable improved vision system based on an augmented reality device. The system was validated in a clinical pilot study on 24 subjects with CVD (18 males and 6 females, aged 37.4 ± 14.2 years). The primary outcome was the improvement in the Ishihara Vision Test score with the correction proposed by our system. The Ishihara test score significantly improved ([Formula: see text]) from 5.8 ± 3.0 without correction to 14.8 ± 5.0 with correction. Almost all patients showed an improvement in color vision, as shown by the increased test scores. Moreover, with our system, 12 subjects (50%) passed the vision color test as normal vision subjects. The development and preliminary validation of the proposed platform confirm that a wearable augmented-reality device could be an effective aid to improve color vision in subjects with CVD.
on PloS one
by Melillo P, Orrico A, Chirico F, Pecchia L, Rossi S, Testa F, Simonelli F
To develop and validate a tool aiming to support ophthalmologists in identifying, during routine ophthalmologic visits, patients at higher risk of falling in the following year.