No abstract

The article presents preliminary findings from a family survey about children's experiences during the COVID-19 lockdown, which was administered through the pediatric network SICuPP (Italian Society of Primary Care Pediatricians-Lombardy) in Northern Italy. The study involved 3443 parents with children aged from 1 to 5 years and from 6 to 10 years living in Lombardy region, the earliest and most severely affected by the COVID-19 emergency. All participants completed an online questionnaire and provided informed consent. Respondents generally displayed confidence and a sense of self-efficacy in relation to how they had coped with the COVID-19 emergency, despite the many difficulties encountered during the lockdown. They reported having observed some unexpected improvements and resources (e.g. parent/child and sibling relationships, adaptiveness and autonomy on the part of children). Parent-to-parent solidarity was commonly reported, although a small percentage of parents had experienced a greater sense of isolation and anxiety. Finally, the study indicated 'key areas of vulnerability' (concerning, for example, eating, rules, sleeping, use of technological devices, fears …) that should be monitored in future by strengthening the territorial network linking families, educational services, and health services.

PurposeTo study the correlation of the local ganglion cell layer-inner plexiform layer (GCL-IPL) thickness with corresponding retinal sensitivity as studied with microperimetry in patients with Type 2 diabetes and no signs of diabetic retinopathy.Patients and methodsWe analyzed 35 healthy subjects (68 eyes) and 26 Type 2 diabetic patients (48 eyes) with no signs of diabetic retinopathy. We tested best corrected visual acuity (BCVA), monocular and binocular constrast sensitivity (CS, Pelli - Robson chart) and retinal sensitivity with microperimetry, and acquired dense macular SD-OCT scans. We then studied the correlation between local GCL-IPL thickness and local sensitivity.ResultsMean BCVA was 1.09 (±1.03) decimals in diabetic subjects and 1.02 (±0.15) decimals in healthy subjects. Only binocular CS was significantly higher in healthy subjects (1.18±0.42 for healthy subjects, 1.62±0.63 for diabetic subjects). In both local and global analysis we observed higher GCL-IPL thickness and higher sensitivity in normal compared with diabetic subjects, but no difference reached significance (p<0.05). Using a mixed multivariate linear model, we found a significant correlation between retinal sensitivity and the correspondent GCL-IPL thickness in diabetic subjects (0.022±0.006 dB/μm, p=0.0007) but not in healthy subjects (-0.002±0.006 dB/μm, p=0.77).Conclusiondespite close similarities between the two groups, we found a significant difference in the structure-function relationship in diabetic subjects without diabetic retinopathy, suggesting that diabetes might act as an additional effect in the normal deterioration of the visual function related to the inner retina.

Purpose To describe the molecular epidemiology of nonsyndromic retinitis pigmentosa (RP) and Usher syndrome (US) in Italian patients. Methods A total of 591 probands (315 with family history and 276 sporadics) were analyzed. For 155 of them, we performed a family segregation study, considering a total of 382 relatives. Probands were analyzed by a customized multigene panel approach. Sanger sequencing was used to validate all genetic variants and to perform family segregation studies. Copy number variants of selected genes were analyzed by multiplex ligation-dependent probe amplification. Four patients who tested negative to targeted next-generation sequencing analysis underwent clinical exome sequencing. Results The mean diagnostic yield of molecular testing among patients with a family history of retinal disorders was 55.2% while the diagnostic yield including sporadic cases was 37.4%. We found 468 potentially pathogenic variants, 147 of which were unpublished, in 308 probands and 66 relatives. Mean ages of onset of the different classes of RP were autosomal dominant RP, 19.3 ± 12.6 years; autosomal recessive RP, 23.2 ± 16.6 years; X-linked RP, 13.9 ± 9.9 years; and Usher syndrome, 18.9 ± 9.5 years. We reported potential new genotype-phenotype correlations in three probands, two revealed by TruSight One testing. All three probands showed isolated RP caused by biallelic variants in genes usually associated with syndromes such as PERCHING and Senior-Loken or with retinal dystrophy, iris coloboma, and comedogenic acne syndrome. Conclusions This is the largest molecular study of Italian patients with RP in the literature, thus reflecting the epidemiology of the disease in Italy with reasonable accuracy.

Telespirometry, performed in a GP's office, can aid the diagnosis of obstructive airway diseases and could help GPs to better manage airway obstruction.

Telespirometry was well accepted by Italian GPs, who obtained acceptable screening traces in a large percentage of subjects. Therefore it might be considered a useful alternative to office spirometry in improving the management of chronic airway diseases by GPs.

ABSTRACT. Mutations in more than 60 different genes have been associated with non-syndromic and syndromic retinitis pigmentosa (RP), a heterogeneous group of inherited retinal dystrophies. To increase the understanding of the molecular epidemiology of the disease in Italy, we analyzed 56 patients with syndromic and non-syndromic forms of RP attending the Retinitis Pigmentosa Center of San Paolo Hospital (Milan, Italy). Patients underwent detailed clinical examination. Genomic DNA isolated from peripheral blood samples was screened for mutations in different genes according to RP form by direct sequencing analysis. The impact of novel missense mutations on protein functions was predicted by in silico analysis and protein sequence alignment. Cosegregation analysis was performed between available family members. Forty-one of the 56 probands analyzed had non-syndromic and 15 had syndromic RP forms. Putative disease-causing mutations were identified in 19 of 56 unrelated RP probands. Mutation screening identified a total of 22 different heterozygous variants. Notably, 12 of these putative pathogenic mutations have not been previously reported. New variants were found to be located on the USH2A, RPGR, EYS, and RHO genes. All 3 new variants detected in X-linked RP probands were confirmed in other affected family members. We found a positivity rate of 24.4% and 60% for probands with non-syndromic and syndromic RP, respectively. This is the first report of RPGR X-linked RP proband-ORF15 mutations in Italian patients with X-linked (XL)-RP. In addition, this is the first report of data regarding the association between EYS mutations and non-syndromic RP forms in the Italian population.

BackgroundTo evaluate functional visual parameters using photocromic and selective blue-violet light filtering spectacle lenses in patients affected by central or peripheral scotoma due to retinal diseases.Sixty patients were enrolled in this study: 30 patients affected by central scotoma, group 1, and 30 affected by peripheral scotoma, group 2.Black on White Best Corrected Visual Acuity (BW-BCVA), White on Black Best Corrected Visual Acuity (WB-BCVA), Mars Contrast Sensitivity (CS) and a Glare Test (GT) were performed to all patients.Test results with blue-violet filter, a short-pass yellow filter and with no filters were compared.ResultsAll scores from test results increased significantly with blue-violet filters for all patients.The mean BW-BCVA increased from 0.30 ± 0.20 to 0.36 ± 0.21 decimals in group 1 and from 0.44 ± 0.22 to 0.51 ± 0.23 decimals in group 2 (Mean ± SD, p < 0.0001 in both cases).The mean WB-BCVA increased from 0.31 ± 0.19 to 0.38 ± 0.23 decimals in group 1 and from 0.46 ± 0.20 to 0.56 ± 0.22 decimals in group 2 (Mean ± SD, p < 0.0001 in both cases).The letter count for the CS test increased from 26.7 ± 7.9 to 30.06 ± 7.8 in group 1 (Mean ± SD, p = 0.0005) and from 31.5 ± 7.6 to 33.72 ± 7.3 in group 2 (Mean ± SD, p = 0.031).GT was significantly reduced: the letter count increased from 20.93 ± 5.42 to 22.82 ± 4.93 in group 1 (Mean ± SD, p < 0.0001) and from 24.15 ± 5.5 to 25.97 ± 4.7 in group 2 (Mean ± SD, p < 0.0001).Higher scores were recorded with the Blue filter compared to Yellow filter in all tests (p < 0.05).No significant differences in any test results could be detected between the Yellow filter and the No filter condition.ConclusionsThe use of a combination of photocromic lens with a selective blue-violet light filter showed functional benefit in all evaluated patients.