Clinical and genetic characteristics of xeroderma pigmentosum in Nepal.

BACKGROUND: Little is known about xeroderma pigmentosum (XP) in Himalayan countries. OBJECTIVE: To describe clinical characteristics of XP in Nepal and investigate its genetic bases. METHODS: This study was carried out on all consecutive patients referred for XP to a Nepalese tertiary referral centre in 2014-2015. Clinical data were collected using a standardized questionnaire. DNA was extracted from salivary samples, and next-generation sequencing (NGS) was conducted using a panel covering all 8 known XP genes (classical XP (XP-A to XP-G) and XP variant) and a skin cancer modifier gene, the melanocortin 1 receptor gene (MC1R). RESULTS: Seventeen patients (median age: 15 years; range: 1-32) were included. Twelve had skin cancers (including a total of 8 squamous cell carcinomas, 60 basal cell carcinomas, ocular carcinomas requiring an orbital exenteration in 3 patients, but no melanoma). Fifteen patients carried the same homozygous non-sense XPC mutation c.1243C>T, p.R415X. A homozygous non-sense XPA mutation (p.W235X) was found in the only patient with a history of early severe sunburn reaction and associated neurological symptoms. Associated genetic alterations included heterozygous missense variants in XPD/ERCC2 gene and the presence of MC1R variant R163Q in 5 and 9 patients, respectively. CONCLUSION: Although not previously reported, XP seems frequent in Nepal. Patients often presented with a very severe phenotype after a long history of excessive sun exposure without knowledge of the disease. Fifteen of 17 had the same p.R415X XPC mutation, which seems very specific of XP in Nepal, suggesting a founder effect. NGS analyses frequently revealed associated genetic alterations which could play a modifier role in the clinical expression of the disease.

Long term variations measurement of electromagnetic field exposures in Alcalá de Henares (Spain).

Electromagnetic radiowave exposure is a major concern in most countries due to possible adverse health effects. Over the last 10years, many technological changes (digital television, mobile technologies, wireless networks…) have led to variations in the electromagnetic field (EMF) levels. A large number of studies devoted to the analysis of EMF levels with personal dosimeters or computer models of the exposure of mobile stations have been conducted. However, the study of the exposure values, taking into account all the existing sources, and their evolution in a wide area, using measurements, has rarely been performed. In this paper, we provide a comparison of the EMF exposure levels for the city of Alcalá de Henares (Spain) over a ten-year period using a broadband isotropic probe in the range from 100kHz to 3GHz. A statistical and spatial analysis of the measurements and their variations are also presented for the study of the global and local variations. The measured values in the period from 2006 to 2015 were ranging from 0.02 to 2.05V/m. Our global results show a moderate increase from 2006 to 2010 and they are almost invariant from 2010 to 2015. Although the whole dataset does not have relevant statistical difference, we have found marked local differences. In the city areas where the population density has remained unaltered, we have measured lower exposure levels. Conversely, new urban and industrial developments have demanded new resources, which have potentially contributed to the observed increase in the measured electric field levels within these areas.