Search

De Marco EV, Annesi G, Tarantino P, Nicoletti G, Civitelli D, Messina D, Annesi F, Arabia G, Salsone M, Condino F, Novellino F, Provenzano G, Rocca FE, Colica C, Morelli M, Scornaienchi V, Greco V, Giofrè L, Quattrone A. DJ-1 is a Parkinson's disease susceptibility gene in southern Italy. Mutations in the gene DJ-1 have been shown to be a rare cause of early-onset Parkinson's disease (EOPD). Since DJ-1 mutations have been found in patients with Parkinson's disease (PD) from southern Italy, we aimed to investigate whether polymorphisms within the DJ-1 gene could represent a risk factor for sporadic PD. First, we genotyped 294 patients with PD and 298 controls coming from southern Italy to assess the distribution of the insertion/deletion (Ins/Del) polymorphism. In a second phase, we identified five single-nucleotide polymorphisms (SNPs) useful to delimit a region potentially involved and genotyped all patients and controls for these markers. All the markers analyzed were significantly associated with PD at both allelic and genotypic level. The most significant association with the disease was found at the Ins/Del polymorphism (p = 0.0001; adjusted odds ratio (OR ) = 2.05; confidence interval (CI ) = 1.36–3.08). When we considered a three-marker sliding window, we found a highly significant association between the disease and the haplotypes including markers rs17523802, Ins/Del, and rs3766606 (p = 0.0007) and markers Ins/Del, rs3766606 and rs7517357 (p = 0.0054). Our results indicate that polymorphisms located in a region spanning 3535 bp from the promoter to the intron 2 of the DJ-1 gene confer risk to sporadic PD in southern Italy. [ABSTRACT FROM AUTHOR]

Dermatologists' burnout is a growing phenomenon. During the last years, an important role on medical stress is played by the ever-increasing use of common technological devices (smartphones, smartwatches, PCs and tablets). The aim of the study was to investigate whether digital technology use causes burnout among Italian dermatologists, using a survey conducted among a group of Italian dermatologists. The final sample contained 194 responses valid for analysis. A positive and significant relationship between technostress, assessed through Technostress Inventory and burnout, assessed through Maslach Burnout Inventory, among Italian dermatologists was found. Our data seems suggesting a close relationship between technostress and dermatologist burnout., (© 2024 Australasian College of Dermatologists.)

Background/objectives: Melanoma may develop de novo or naevus associated (NAM). The exact prevalence and features of NAM are not fully elucidated., Methods: A 15-year cross-sectional retrospective study was performed of all melanoma cases diagnosed and treated at the skin cancer centre of the University of Naples Federico II from September 2003 to August 2018. Data collected included patient's age, gender, melanoma anatomic site, Breslow thickness, and histolopathology including melanoma-associated lesion characteristics., Results: A total of 1986 melanomas were included in the study. Based on histolopathogical examination, NAM represented 8.4% (n = 167) with de novo melanoma representing the great majority of the melanomas (91.6%). NAM was significantly more common in younger age compared to de novo melamoma (mean age 48 ± 14.9 vs 54.3 ± 15.9 years, P < 0.001), and more frequently involved the trunk (62.3% vs 51.8% P = 0.01). Mean Breslow thickness was significantly higher in de novo melanoma  compared to NAM (0.97 ± 1.48 mm vs 0.83 ± 0.95, P < 0.001). However, in situ melanoma was more commonly observed in de novo melanoma (n = 640, 35.2%) rather than NAM (n = 41, 24.5%; P < 0.01) whereas invasive melanoma represented 75.5% (n = 126) of NAM and 64.8% (n = 1179) of de novo melanoma, P < 0.01., Conclusions: NAM represent a small percentage of melanomas (8.4%) compared to de novo melanoma. NAM appeared to be significantly more common in younger age and more frequently involved the trunk, being associated with an overall better prognosis, due to a lower mean Breslow thickness respect to de novo melanoma., (© 2019 The Australasian College of Dermatologists.)

Understanding DNA variation within the human genome is fundamental to the identification and interpretation of genetic components underlying complex traits and diseases. Despite their role in many crucial cellular pathways and their reported involvement in many complex diseases no data are available on the molecular variability of the genes coding for Heat Shock Proteins 90Kda (HSP90). Towards this purpose we have used DHPLC methodology to survey, a sample of Caucasians for genetic polymorphisms in the exons and exon-flanking regions of the expressed genes of human HSP90 gene families, HSP90alpha (HSPCAL4, 14q31.3) and HSP90beta (HSPCB, 6p12). A total of 18 and 11 variants were found in the HSP90-alpha and -beta genes respectively, providing an initial view of human genetic variation in these important genes. Only three of the observed mutations altered the genic product. Interestingly, one of the variations observed was a missense mutation leading to the impairment of the hsp90alpha protein., (Copyright 2003 Wiley-Liss, Inc.)