Epidemiology of pertussis in Italy: disease trends over the last century.

Binary file ES_Abstracts_Final_ECDC.txt matche

A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report

Background Malan syndrome (MALNS) is a recently described ultrarare syndrome lacking guidelines for diagnosis, management and monitoring of evolutive complications. Less than 90 patients are reported in the literature and limited clinical information are available to assure a proper health surveillance. Results A multidisciplinary team with high expertise in MALNS has been launched at the "Ospedale Pediatrico Bambino Gesu", Rome, Italy. Sixteen Italian MALNS individuals with molecular confirmed clinical diagnosis of MALNS were enrolled in the program. For all patients, 1-year surveillance in a dedicated outpatient Clinic was attained. The expert panel group enrolled 16 patients and performed a deep phenotyping analysis directed to clinically profiling the disorder and performing critical revision of previously reported individuals. Some evolutive complications were also assessed. Previously unappreciated features (e.g., high risk of bone fractures in childhood, neurological/neurovegetative symptoms, noise sensitivity and Chiari malformation type 1) requiring active surveillance were identified. A second case of neoplasm was recorded. No major cardiovascular anomalies were noticed. An accurate clinical description of 9 new MALNS cases was provided. Conclusions Deep phenotyping has provided a more accurate characterization of the main clinical features of MALNS and allows broadening the spectrum of disease. A minimal dataset of clinical evaluations and follow-up timeline has been proposed for proper management of patients affected by this ultrarare disorder

Illuminating hydrological processes at the soil-vegetation-atmosphere interface with water stable isotopes

Funded by DFG research project “From Catchments as Organised Systems to Models based on Functional Units” (FOR 1Peer reviewedPublisher PDFPublisher PD

Combined carbonate carbon isotopic and cellular ultrastructural studies of individual benthic foraminifera : method description

Author Posting. © American Geophysical Union, 2010. This article is posted here by permission of American Geophysical Union for personal use, not for redistribution. The definitive version was published in Paleoceanography 25 (2010): PA2211, doi:10.1029/2009PA001846.Carbon isotopes of foraminiferal tests provide a widely used proxy for past oceanographic environmental conditions. This proxy can be calibrated using live specimens, which are reliably identified with observations of cell ultrastructure. Observations of ultrastructures can also be used for studies of biological characteristics such as diet and presence of symbionts. Combining biological and isotopic studies on individual foraminifera could provide novel information, but standard isotopic methods destroy ultrastructures by desiccating specimens and observations of ultrastructure require removal of carbonate tests, preventing isotope measurements. The approach described here preserves cellular ultrastructure during isotopic analyses by keeping the foraminifera in an aqueous buffer (Phosphate Buffered Saline (PBS)). The technique was developed and standardized with 36 aliquots of NBS-19 standard of similar weight to foraminiferal tests (5 to 123 μg). Standard errors ranged from ± 0.06 to ± 0.85‰ and were caused by CO2 contaminants dissolved in the PBS. The technique was used to measure δ13C values of 96 foraminifera, 10 of which do not precipitate carbonate tests. Calcareous foraminiferal tests had corrected carbon isotope ratios of −8.5 to +3.2‰. This new technique allows comparisons of isotopic compositions of tests made by foraminifera known to be alive at the time of collection with their biological characteristics such as prey composition and presence or absence of putative symbionts. The approach may be applied to additional biomineralizing organisms such as planktonic foraminifera, pteropods, corals, and coccolithophores to elucidate certain biological controls on their paleoceanographic proxy signatures.Support was provided by NSF grants OCE‐0550396 (to J.B.M.), OCE‐0551001 (to J.M.B.), and OCE‐ 0550401 (to A.E.R.)

Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic

During the COVID-19 outbreak, the European Reference Network on Rare Bone Diseases (ERN BOND) coordination team and Italian rare bone diseases healthcare professionals created the "COVID-19 Helpline for Rare Bone Diseases" in an attempt to provide high-quality information and expertise on rare bone diseases remotely to patients and healthcare professionals. The present position statement describes the key characteristics of the Helpline initiative, along with the main aspects and topics that recurrently emerged as central for rare bone diseases patients and professionals. The main topics highlighted are general recommendations, pulmonary complications, drug treatment, trauma, pregnancy, children and elderly people, and patient associations role. The successful experience of the "COVID-19 Helpline for Rare Bone Diseases" launched in Italy could serve as a primer of gold-standard remote care for rare bone diseases for the other European countries and globally. Furthermore, similar COVID-19 helplines could be considered and applied for other rare diseases in order to implement remote patients' care

Isotope tracing of submarine groundwater discharge offshore Ubatuba, Brazil : results of the IAEA–UNESCO SGD project

Author Posting. © Elsevier B.V., 2008. This is the author's version of the work. It is posted here by permission of Elsevier B.V. for personal use, not for redistribution. The definitive version was published in Journal of Environmental Radioactivity 99 (2008): 1596-1610, doi:10.1016/j.jenvrad.2008.06.010.Results of groundwater and seawater analyses for radioactive (3H, 222Rn, 223Ra, 224Ra, 226Ra, 228Ra) and stable (2H, 18O) isotopes are presented together with in situ spatial mapping and time-series 222Rn measurements in seawater, direct seepage measurements using manual and automated seepage meters, pore water investigations using different tracers and piezometric techniques, and geoelectric surveys probing the coast. This study represents first time that such a new complex arsenal of radioactive and non-radioactive tracer techniques and geophysical methods have been used for simultaneous submarine groundwater discharge (SGD) investigations. Large fluctuations of SGD fluxes were observed at sites situated only a few meters apart (from 0 cm d-1 to 360 cm d-1; the unit represents cm3/cm2/day), as well as during a few hours (from 0 cm d-1 to 110 cm d-1), strongly depending on the tidal fluctuations. The average SGD flux estimated from continuous 222Rn measurements is 17±10 cm d-1. Integrated coastal SGD flux estimated for the Ubatuba coast using radium isotopes is about 7x103 m3 d-1 per km of the coast. The isotopic composition (δ2H and δ18O) of submarine waters was characterised by significant variability and heavy isotope enrichment, indicating that the contribution of groundwater in submarine waters varied from a small percentage to 20%. However, this contribution with increasing offshore distance became negligible. Automated seepage meters and time-series measurements of 222Rn activity concentration showed a negative correlation between the SGD rates and tidal stage. This is likely caused by sea level changes as tidal effects induce variations of hydraulic gradients. The geoelectric probing and piezometric measurements contributed to better understanding of the spatial distribution of different water masses present along the coast. The radium isotope data showed scattered distributions with offshore distance, which imply that seawater in a complex coast with many small bays and islands was influenced by local currents and groundwater/seawater mixing. This has also been confirmed by a relatively short residence time of 1-2 weeks for water within 25 km offshore, as obtained by short-lived radium isotopes. The irregular distribution of SGD seen at Ubatuba is a characteristic of fractured rock aquifers, fed by coastal groundwater and recirculated seawater with small admixtures of groundwater, which is of potential environmental concern and has implications on the management of freshwater resources in the region.This research was supported by IAEA and UNESCO (IOC and IHP) in the framework of the joint SGD project. Science support for some U.S. investigators was provided by grants from the National Science Foundation (OCE03-50514 to WCB and OCE02-33657 to WSM)

The impact of neogene grassland expansion and aridification on the isotopic composition of continental precipitation

The late Cenozoic was a time of global cooling, increased aridity, and expansion of grasslands. In the last two decades numerous records of oxygen isotopes have been collected to assess plant ecological changes, understand terrestrial paleoclimate, and to determine the surface history of mountain belts. The δ¹⁸(O) values of these records, in general, increase from the mid-Miocene to the Recent. We suggest that these records record an increase in aridity and expansion of grasslands in midlatitude continental regions. We use a nondimensional isotopic vapor transport model coupled with a soil water isotope model to evaluate the role of vapor recycling and transpiration by different plant functional types. This analysis shows that increased vapor recycling associated with grassland expansion along with biomechanistic changes in transpiration by grasses themselves conspires to lower the horizontal gradient in the δ¹⁸(O) of atmospheric vapor as an air mass moves into continental interiors. The resulting signal at a given inland site is an increase in δ¹⁸(O) of precipitation with the expansion of grasslands and increasing aridity, matching the general observed trend in terrestrial Cenozoic δ¹⁸(O) records. There are limits to the isotopic effect that are induced by vapor recycling, which we refer to here as a “hydrostat.” In the modern climate, this hydrostatic limit occurs at approximately the boundary between forest and grassland ecosystems

Isotopic, geophysical and biogeochemical investigation of submarine groundwater discharge : IAEA-UNESCO intercomparison exercise at Mauritius Island

Author Posting. © The Author(s), 2011. This is the author's version of the work. It is posted here by permission of Elsevier B.V. for personal use, not for redistribution. The definitive version was published in Journal of Environmental Radioactivity 104 (2012): 24-45, doi:10.1016/j.jenvrad.2011.09.009.Submarine groundwater discharge (SGD) into a shallow lagoon on the west coast of Mauritius Island (Flic-en-Flac) was investigated using radioactive (3H, 222Rn, 223Ra, 224Ra, 226Ra, 228Ra) and stable (2H, 18O) isotopes and nutrients. SGD intercomparison exercises were carried out to validate the various approaches used to measure SGD including radium and radon measurements, seepage-rate measurements using manual and automated meters, sediment bulk conductivity and salinity surveys. SGD measurements using benthic chambers placed on the floor of the Flic-en-Flac Lagoon showed discharge rates up to 500 cm/day. Large variability in SGD was observed over distances of a few meters, which were attributed to different geomorphological features. Deployments of automated seepage meters captured the spatial and temporal variability of SGD with a mean seepage rate of 10 cm/day. The stable isotopic composition of submarine waters was characterized by significant variability and heavy isotope enrichment and was used to predict the contribution of fresh terrestrially derived groundwater to SGD (range from a few % to almost 100 %). The integrated SGD flux, estimated from seepage meters placed parallel to the shoreline, was 35 m3/m day, which was in a reasonable agreement with results obtained from hydrologic water balance calculation (26 m3/m day). SGD calculated from the radon inventory method using in situ radon measurements were between 5 and 56 m3/m per day. Low concentrations of radium isotopes observed in the lagoon water reflected the low abundance of U and Th in the basalt that makes up the island. High SGD rates contribute to high nutrients loading to the lagoon, potentially leading to eutrophication. Each of the applied methods yielded unique information about the character and magnitude of SGD. The results of the intercomparison studies have resulted a better understanding of groundwater-seawater interactions in coastal regions. Such information is an important pre-requisite for the protection management of coastal freshwater resources.The financial support provided by the IOC and IHP of UNESCO for travel arrangements, and by the IAEA’s Marine Environment Laboratories for logistics is highly acknowledged. MAC and MEG were supported in part by the US National Science Foundation (OCE-0425061 and OCE-0751525). PPP acknowledges a support provided by the EU Research & Development Operational Program funded by the ERDF (project No. 26240220004), and the Slovak Scientific Agency VEGA (grant No. 1/108/08). The International Atomic Energy Agency is grateful to the Government of the Principality of Monaco for support provided to its Marine Environment Laboratories

Assessment of Renal Function by the Stable Oxygen and Hydrogen Isotopes in Human Blood Plasma

Water (H2O) is the most abundant and important molecule of life. Natural water contains small amount of heavy isotopes. Previously, few animal model studies have shown that the isotopic composition of body water could play important roles in physiology and pathophysiology. Here we study the stable isotopic ratios of hydrogen (δ2H) and oxygen (δ18O) in human blood plasma. The stable isotopic ratio is defined and determined by δsample = [(Rsample/RSTD)−1] * 1000, where R is the molar ratio of rare to abundant, for example, 18O/16O. We observe that the δ2H and the δ18O in human blood plasma are associated with the human renal functions. The water isotope ratios of the δ2H and δ18O in human blood plasma of the control subjects are comparable to those of the diabetes subjects (with healthy kidney), but are statistically higher than those of the end stage renal disease subjects (p<0.001 for both ANOVA and Student's t-test). In addition, our data indicate the existence of the biological homeostasis of water isotopes in all subjects, except the end stage renal disease subjects under the haemodialysis treatment. Furthermore, the unexpected water contents (δ2H and δ18O) in blood plasma of body water may shed light on a novel assessment of renal functions