PRPH2 gene mutations are frequently found in inherited retinal dystrophies (IRD) and are associated with a wide spectrum of clinical phenotypes. We studied 28 subjects affected by IRD carrying pathogenic PRPH2 mutations, belonging to 11 unrelated families. Functional tests (best-corrected visual acuity measurement, chromatic test, visual field, full-field, 30 Hz flicker, and multifocal electroretinogram), morphological retino-choroidal imaging (optical coherence tomography, optical coherence tomography angiography, and fundus autofluorescence), and clinical data were collected and analyzed. Common primary complaints, with onset in their 40s, were visual acuity reduction and abnormal dark adaptation. Visual acuity ranged from light perception to 20/20 Snellen. Visual field peripheral constriction and central scotoma were found. Chromatic sense was reduced in one third of patients. Electrophysiological tests were abnormal in most of the patients. Choroidal neovascular lesions were detected in five patients. Three novel PRPH2 variants were found in four different families. Based on the present multimodal study, we identified seven distinct PRPH2 phenotypes in 11 unrelated families carrying either different mutations or the same mutation, both within the same family or among them. Fundus autofluorescence modality turned out to be the most adequate imaging method for early recognition of this dystrophy, and the optical coherence tomography angiography was highly informative to promptly detect choroidal neovascularization, even in the presence of the extensive chorioretinal atrophy phenotype.
Lymphedema is a chronic inflammatory disorder caused by ineffective fluid uptake by the lymphatic system, with effects mainly on the lower limbs. Lymphedema is either primary, when caused by genetic mutations, or secondary, when it follows injury, infection, or surgery. In this study, we aim to assess to what extent the current genetic tests detect genetic variants of lymphedema, and to identify the major molecular pathways that underlie this rather unknown disease. We recruited 147 individuals with a clinical diagnosis of primary lymphedema and used established genetic tests on their blood or saliva specimens. Only 11 of these were positive, while other probands were either negative (63) or inconclusive (73). The low efficacy of such tests calls for greater insight into the underlying mechanisms to increase accuracy. For this purpose, we built a molecular pathways diagram based on a literature analysis (OMIM, Kegg, PubMed, Scopus) of candidate and diagnostic genes. The PI3K/AKT and the RAS/MAPK pathways emerged as primary candidates responsible for lymphedema diagnosis, while the Rho/ROCK pathway appeared less critical. The results of this study suggest the most important pathways involved in the pathogenesis of lymphedema, and outline the most promising diagnostic and candidate genes to diagnose this disease.
Distribuzione dei genotipi dell'HCV nei pazienti afferenti al Servizio di Immunoematologia eTrasfusionale dell' Azienda Ospedaliera S. Maria di Terni nell'anno 2012 SUMMARY Background. The diffusion of Hepatitis C Virus genotypes in a specific geographical area plays a crucial role in public health defense management. Objectives. In this study we evaluated the prevalence and distribution of the HCV genotypes in 204 HCV-RNA positive samples of outcoming and incoming patients of the Molecular Biology Laboratory of the Immuno-Haematology and Blood Transfusion Unit, AO "S. Maria", Terni, from Jenaury to December 2012. Study Design. We have analized HCV genotypes prevalence and distribution in relation to qualitative variables such as sex, age, in-or out-coming. Results. The results show that during the year 2012 the most prevalence genotype was genotype 1 (53.9%). As far as the HCV subgenotypes, 1a and 3a were prevalent within males (25% and 20.1%, respectively) and subgenotype 1b was most prevalent within females (9.3%). In addition we observed also an increase in genotype 4 (10.3%), probably due to the continuous migration of population from Northen-Africa and Middle-Eastern countries where such variant 4 is endemic. In regards to age, our data show that patients between the age of 30 and 50 years old, presented mainly HCV genotypes 3a (27%) and 4c (12.7%) whereas over 50 years old patients harboured more frequently genotypes 1b (25.3%) and 2a (23.9%). Conclusions. The high frequency of isolation of genotypes 1a and 3a agrees with previous observation made in patients from Northen and Central Italy where the infection with this viral variant is characteristic of young patients and is often associated with drug abuse. On the contrary, genotypes 1b and 2a seems to be more associated to community-acquired infections predominantly in blood transfused patients.
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