Κυριακή, 17 Φεβρουαρίου 2019

NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes

Autosomal dominant Dandy‐Walker malformation and occipital cephalocele (ADDWOC) is a rare, congenital, and incompletely penetrant malformation that is considered to be part of the Dandy‐Walker spectrum of disorders. Affected individuals often present with an occipital cephalocele with a bony skull defect, but typically have normal neurological development. Here, we report on a three‐generation family in which individuals have variable phenotypes that are consistent with the ADDWOC spectrum: arachnoid cysts in the proband and his maternal grandfather, an occipital cephalocele in the proband and his brother, and a small bony defect in the proband's mother. Whole exome sequencing identified a rare heterozygous variant in NID1 (NM_002508.2:c.1162C>T, (p.Gln388Ter)) in the proband, his brother, and his mother. Sanger sequencing confirmed the presence of this variant in the maternal grandfather. The identical c.1162C>T variant was previously identified in variably affected members of a three‐generation family with ADDWOC. This case report provides further evidence that variants in NID1 may be clinically relevant for the development of a phenotype that is consistent with ADDWOC, and extends the phenotype of NID1‐associated ADDWOC to include arachnoid cysts. Given that the Dandy‐Walker malformation itself is not a pre‐requisite to this spectrum of phenotypes, we also suggest a novel term for the NID1‐associated disorder in order to give emphasis to this phenotypic variability: "Autosomal Dominant Posterior Fossa Anomalies with Occipital Cephaloceles."



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Integrating radon and thoron flux data with gamma radiation mapping in radon-prone areas. The case of volcanic outcrops in a highly-urbanized city (Roma, Italy)

Publication date: June 2019

Source: Journal of Environmental Radioactivity, Volume 202

Author(s): Carlo Lucchetti, Alessandra Briganti, Mauro Castelluccio, Gianfranco Galli, Simone Santilli, Michele Soligo, Paola Tuccimei

Abstract

An integration of laboratory radon and thoron exhalation data with gamma radiation mapping is applied to assess the geogenic radon and the exposure of people to natural radiation in a highly-urbanized city (Roma, Italy). The study area is a protected territory where ignimbrites from Colli Albani volcano and alluvial sediments largely crop out. A map of total gamma radiation, a gamma transect across Caffarella valley and 9 vertical gamma profiles have been carried out, showing that the main control of gamma levels is, of course, the lithological nature, without neglecting the simultaneous effect of other parameters such as slope morphology, erosion/weathering processes, occurrence of sinkholes or underground tunnels. The surveys allowed to distinguish the medians of ignimbrites (from 816 ± 16 cps to 936 ± 19 cps) from that of alluvial materials (611 ± 14) cps), but showed also that alluvial sediments with anomalously high radioactivity (769 ± 14 cps) can be locally recognized, providing valuable information on the interaction between sedimentation and erosion in fluvial valleys. Total gamma activity was converted into absorbed gamma dose rate ranging from 0.33 to 0.38 μSv/hr. Outdoor Annual Effective Dose Equivalents were also estimated between 0.58 and 0.67 mSv y−1.

Laboratory radon and thoron exhalation rates of collected material are positively correlated with gamma radiation. Volcanic and alluvial sediments are well-discriminated. The correlation between the two variables is evident, but not robust because of the variable concentration of 40 K, which is not contributing to radon and thoron exhalation rates. Anomalous data of soil samples located at the foot of a slope can be interpreted as due to reworking and accumulation processes. Similar gamma radiation data documents analogous concentration of radon and thoron parent-nuclides, but coexisting different radon and thoron exhalation rates provides an additional information on different grain size distributions which can be considered as a proxy for soil gas permeability.

The integration of gamma mapping and radon and thoron exhalation measurements is a very useful tool to assess people exposure to natural radiation, in terms of dose rates and potential indoor radon. Gamma mapping, which provides data on the radiation source (the bedrock) is fast and not expensive. It allows to obtain very detailed pictures of a study area, but it needs to be combined with laboratory determination of radon and thoron release in order to definitely and correctly interpret variations of gamma signal. Furthermore, laboratory determination of soil radon exhalation gives information on the release of radon and is a good proxy for soil gas permeability. It has the great advantage over in-situ measurements of gas flow not to be influenced by seasonal pedoclimatic parameters and is affected by lower analytical uncertainties. These data are thus reproducible and precise and can be used to estimate potential radon hazard, which is the main source of exposure and thus the most important parameter for human protection from environmental radioactivity.



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Editorial Board

Publication date: May 2019

Source: Journal of Environmental Radioactivity, Volume 201

Author(s):



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The comet assay in animal models: From bugs to whales – (Part 1 Invertebrates)

Publication date: Available online 16 February 2019

Source: Mutation Research/Reviews in Mutation Research

Author(s): Goran Gajski, Bojana Žegura, Carina Ladeira, Bertrand Pourrut, Cristian Del Bo', Matjaž Novak, Monika Sramkova, Mirta Milić, Kristine Bjerve Gutzkow, Solange Costa, Maria Dusinska, Gunnar Brunborg, Andrew Collins

Abstract

The comet assay, also called single cell gel electrophoresis, is a sensitive, rapid and low-cost technique for quantifying and analysing DNA damage and repair at the level of individual cells. The assay itself can be applied on virtually any cell type derived from different organs and tissues of eukaryotic organisms. Although it is mainly used on human cells, the assay has applications also in the evaluation of DNA damage in yeast, plant and animal cells. Therefore, the purpose of this review is to give an extensive overview on the usage of the comet assay in animal models from invertebrates to vertebrates, covering both terrestrial and water biota. The comet assay is used in a variety of invertebrate species since they are regarded as interesting subjects in ecotoxicological research due to their significance in ecosystems. Hence, the first part of the review (Part 1) will discuss the application of the comet assay in invertebrates covering protozoans, platyhelminthes, planarians, cnidarians, molluscs, annelids, arthropods and echinoderms. Besides a large number of animal species, the assay is also performed on a variety of cells, which includes haemolymph, gills, digestive gland, sperm and embryo cells. The mentioned cells have been used for the evaluation of a broad spectrum of genotoxic agents both in vitro and in vivo. Moreover, the use of invertebrate models and their role from an ecotoxicological point of view will also be discussed as well as the comparison of the use of the comet assay in invertebrate and human models. Since the comet assay is still developing, its increasing potential in assessing DNA damage in animal models is crucial especially in the field of ecotoxicology and biomonitoring at the level of different species, not only humans.



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