Analysis and hindcast simulations of an extreme rainfall event in the Mediterranean area: The Genoa 2011 case

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Ambient Metals, Elemental Carbon, and Wheeze and Cough in New York City Children through 24 Months of Age

Rationale: The effects of exposure to specific components of ambient fine particulate matter (PM2.5), including metals and elemental carbon (EC), have not been fully characterized in young children. Objectives: To compare temporal associations among PM2.5; individual metal constituents of ambient PM2.5, including nickel (Ni), vanadium (V), and zinc (Zn); and EC and longitudinal reports of respiratory symptoms through 24 months of age. Methods: Study participants were selected from the Columbia Center for Children's Environmental Health birth cohort recruited in New York City between 1998 and 2006. Respiratory symptom data were collected by questionnaire every 3 months through 24 months of age. Ambient pollutant data were obtained from state-operated stationary monitoring sites located within the study area. For each subject, 3-month average inverse-distance weighted concentrations of Ni, V, Zn, EC, and PM2.5 were calculated for each symptom-reporting period based on the questionnaire date and the preceding 3 months. Associations between pollutants and symptoms were characterized using generalized additive mixed effects models, adjusting for sex, ethnicity, environmental tobacco smoke exposure, and calendar time. Measurements and Main Results: Increases in ambient Ni and V concentrations were associated significantly with increased probability of wheeze. Increases in EC were associated significantly with cough during the cold/flu season. Total PM2.5 was not associated with wheeze or cough. Conclusions: These results suggest that exposure to ambient metals and EC from heating oil and/or traffic at levels characteristic of urban environments may be associated with respiratory symptoms among very young children

Climatic, Ecophysiological, and Phenological Controls on Plant Ecohydrological Strategies in Seasonally Dry Ecosystems

Large areas in the tropics and at mid-latitudes experience pronounced seasonality and inter-annual variability in rainfall and hence water availability. Despite the importance of these seasonally dry ecosystems (SDEs) for the global carbon cycling and in providing ecosystem services, a unifying ecohydrological framework to interpret the effects of climatic variability on SDEs is still lacking. A synthesis of existing data about plant functional adaptations in SDEs, covering some 400 species, shows that leaf phenological variations, rather than physiological traits, provide the dominant control on plant-water-carbon interactions. Motivated by this result, the combined implications of leaf phenology and climatic variability on plant water use strategies are here explored with a minimalist model of the coupled soil water and plant carbon balances. The analyses are extended to five locations with different hydroclimatic forcing, spanning seasonally dry tropical climates (without temperature seasonality) and Mediterranean climates (exhibiting out of phase seasonal patterns of rainfall and temperature). The most beneficial leaf phenology in terms of carbon uptake depends on the climatic regime: evergreen species are favoured by short dry seasons or access to persistent water stores, whereas high inter-annual variability of rainy season duration favours the coexistence of multiple drought-deciduous phenological strategies. We conclude that drought-deciduousness may provide a competitive advantage in face of predicted declines in rainfall totals, while reduced seasonality and access to deep water stores may favour evergreen species. This article has been contributed to by US Government employees and their work is in the public domain in the USA

Study of the γ decay of high-lying states in 208Pb via inelastic scattering of 17O ions

High-lying states in 208Pb nucleus were populated via inelastic scattering of a 17O beam at bombarding energy of 20 MeV/u. Their subsequent gamma decay was measured with the detector system AGATA Demonstrator based on HPGe detectors, coupled to an array of large volume LaBr3:Ce scintillators. Preliminary results in comparison with (γ,γ′) data, for states in the 5–8 MeV energy interval, seem to indicate that in that region the states belong to two different groups one with a isoscalar character and the other with a isovector nature. This is similar to what was observed in other stable nuclei with (α,α′γ) experiments. The multipolarity of the observed gamma transitions is determined with remarkable sensitivity thanks to angular distribution measurements. Data aiming at studying the neutron decay of the Giant Quadrupole Resonance in the 208Pb by the high resolution measurement of the following gamma decay are also presented in their preliminary form

Convective-scale perturbation growth across the spectrum of convective regimes

Convection-permitting ensembles have led to improved forecasts of many atmospheric phenomena. However, to fully utilize these forecasts the dependence of predictability on synoptic conditions needs to be understood. In this study, convective regimes are diagnosed based on a convective timescale which identifies the degree to which convection is in equilibrium with the large-scale forcing. Six convective cases are examined in a convection-permitting ensemble constructed using the Met Office Unified Model. The ensemble members were generated using small-amplitude buoyancy perturbations added into the boundary layer, which can be considered to represent turbulent fluctuations close to the gridscale. Perturbation growth is shown to occur on different scales with an order of magnitude difference between the regimes (O(1 km) for cases closer to non-equilibrium convection and O(10 km) for cases closer to equilibrium convection). This difference reflects the fact that cell locations are essentially random in the equilibrium events after the first 12 h of the forecast, indicating a more rapid upscale perturbation growth compared to the non-equilibrium events. Furthermore, large temporal variability is exhibited in all perturbation growth diagnostics for the nonequilibrium regime. Two boundary condition driven cases are also considered and show similar characteristics to the non-equilibrium cases, implying that caution is needed to interpret the timescale when initiation is not within the domain. Further understanding of perturbation growth within the different regimes could lead to a better understanding of where ensemble design improvements can be made beyond increasing the model resolution and could improve interpretation of forecasts

Clinical pregenetic screening for stroke monogenic diseases: Results from lombardia GENS registry

BACKGROUND AND PURPOSE: Lombardia GENS is a multicentre prospective study aimed at diagnosing 5 single-gene disorders associated with stroke (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Fabry disease, MELAS [mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes], hereditary cerebral amyloid angiopathy, and Marfan syndrome) by applying diagnostic algorithms specific for each clinically suspected disease METHODS: We enrolled a consecutive series of patients with ischemic or hemorrhagic stroke or transient ischemic attack admitted in stroke units in the Lombardia region participating in the project. Patients were defined as probable when presenting with stroke or transient ischemic attack of unknown etiopathogenic causes, or in the presence of <3 conventional vascular risk factors or young age at onset, or positive familial history or of specific clinical features. Patients fulfilling diagnostic algorithms specific for each monogenic disease (suspected) were referred for genetic analysis. RESULTS: In 209 patients (57.4\ub114.7 years), the application of the disease-specific algorithm identified 227 patients with possible monogenic disease. Genetic testing identified pathogenic mutations in 7% of these cases. Familial history of stroke was the only significant specific feature that distinguished mutated patients from nonmutated ones. The presence of cerebrovascular risk factors did not exclude a genetic disease. CONCLUSIONS: In patients prescreened using a clinical algorithm for monogenic disorders, we identified monogenic causes of events in 7% of patients in comparison to the 1% to 5% prevalence reported in previous series

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function

Context: Steroidogenic factor 1 ( SF1/AdBP4/FTZF1, NR5A1) is a nuclear receptor transcription factor that plays a key role in regulating adrenal and gonadal development, steroidogenesis, and reproduction. Targeted deletion of Nr5a1 ( Sf1) in the mouse results in adrenal and gonadal agenesis, XY sex-reversal, and persistent Mullerian structures in males. Consistent with the murine phenotype, human mutations in SF1 were described initially in two 46, XY individuals with female external genitalia, Mullerian structures ( uterus), and primary adrenal failure.Objective: Given recent case reports of haploinsufficiency of SF1 affecting testicular function in humans, we aimed to identify SF1 mutations in a cohort of individuals with a phenotypic spectrum of 46, XY gonadal dysgenesis/impaired androgenization ( now termed 46, XY disorders of sex development) with normal adrenal function.Methods and Patients: The study included mutational analysis of NR5A1 in 30 individuals with 46, XY disorders of sex development, followed by functional studies of SF1 activity.Results: Heterozygous missense mutations in NR5A1 were found in four individuals ( four of 30, 13%) with this phenotype. These mutations ( V15M, M78I, G91S, L437Q) were shown to impair transcriptional activation through abnormal DNA binding ( V15M, M78I, G91S), altered subnuclear localization ( V15M, M78I), or disruption of the putative ligand-binding pocket ( L437Q). Two mutations appeared to be de novo or germline changes. The other two mutations appeared to be inherited in a sex-limited dominant manner because the mother is heterozygous for the change.Conclusions: These studies demonstrate that SF1 mutations are more frequent than previously suspected causes of impaired fetal and postnatal testicular function in 46, XY individuals

Use of eHealth platforms and apps to support monitoring and management of home-quarantined patients with COVID-19 in the province of Trento, Italy: app development and implementation

Background: Italy was the first country to largely experience the COVID-19 epidemic among other Western countries during the so-called first wave of the COVID-19 pandemic. Proper management of an increasing number of home-quarantined individuals created a significant challenge for health care authorities and professionals. This was especially true when considering the importance of remote surveillance to detect signs of disease progression and consequently regulate access to hospitals and intensive care units on a priority basis. Objective: In this paper, we report on an initiative promoted to cope with the first wave of the COVID-19 epidemic in the Spring/Summer of 2020, in the Autonomous Province of Trento, Italy. A purposefully built app named TreCovid19 was designed to provide dedicated health care staff with a ready-to-use tool for remotely monitoring patients with progressive symptoms of COVID-19, who were home-quarantined during the first wave of the epidemic, and to focus on those patients who, based on their self-reported clinical data, required a quick response from health care professionals. Methods: TreCovid19 was rapidly developed to facilitate the monitoring of a selected number of home-quarantined patients with COVID-19 during the very first epidemic wave. The app was built on top of an existing eHealth platform, already in use by the local health authority to provide home care, with the following functionalities: (1) to securely collect and link demographic and clinical information related to the patients and (2) to provide a two-way communication between a multidisciplinary health care team and home-quarantined patients. The system supported patients to self-assess their condition and update the multidisciplinary team on their health status. The system was used between March and June 2020 in the province of Trento. Results: A dedicated multidisciplinary group of health care professionals adopted the platform over a period of approximately 3 months (from March-end to June 2020) to monitor a total of 170 patients with confirmed COVID-19 during home quarantine. All patients used the system until the end of the initiative. The TreCovid19 system has provided useful insights of possible viability and impact of a technological–organizational asset to manage a potentially critical workload for the health care staff involved in the periodic monitoring of a relevant number of quarantined patients, notwithstanding its limitations given the rapid implementation of the whole initiative. Conclusions: The technological and organizational model adopted in response to the COVID-19 pandemic was developed and finalized in a relatively short period during the initial few weeks of the epidemic. The system successfully supported the health care staff involved in the periodic monitoring of an increasing number of home-quarantined patients and provided valuable data in terms of disease surveillance

Footprint of Positive Selection in Treponema pallidum subsp. pallidum Genome Sequences Suggests Adaptive Microevolution of the Syphilis Pathogen

In the rabbit model of syphilis, infection phenotypes associated with the Nichols and Chicago strains of Treponema pallidum (T. pallidum), though similar, are not identical. Between these strains, significant differences are found in expression of, and antibody responses to some candidate virulence factors, suggesting the existence of functional genetic differences between isolates. The Chicago strain genome was therefore sequenced and compared to the Nichols genome, available since 1998. Initial comparative analysis suggested the presence of 44 single nucleotide polymorphisms (SNPs), 103 small (≤3 nucleotides) indels, and 1 large (1204 bp) insertion in the Chicago genome with respect to the Nichols genome. To confirm the above findings, Sanger sequencing was performed on most loci carrying differences using DNA from Chicago and the Nichols strain used in the original T. pallidum genome project. A majority of the previously identified differences were found to be due to errors in the published Nichols genome, while the accuracy of the Chicago genome was confirmed. However, 20 SNPs were confirmed between the two genomes, and 16 (80.0%) were found in coding regions, with all being of non-synonymous nature, strongly indicating action of positive selection. Sequencing of 16 genomic loci harboring SNPs in 12 additional T. pallidum strains, (SS14, Bal 3, Bal 7, Bal 9, Sea 81-3, Sea 81-8, Sea 86-1, Sea 87-1, Mexico A, UW231B, UW236B, and UW249C), was used to identify “Chicago-“ or “Nichols -specific” differences. All but one of the 16 SNPs were “Nichols-specific”, with Chicago having identical sequences at these positions to almost all of the additional strains examined. These mutations could reflect differential adaptation of the Nichols strain to the rabbit host or pathoadaptive mutations acquired during human infection. Our findings indicate that SNPs among T. pallidum strains emerge under positive selection and, therefore, are likely to be functional in nature

Shape evolution in the neutron-rich osmium isotopes:Prompt γ-ray spectroscopy of Os 196

The shape transition in the neutron-rich Os isotopes is studied by investigating the neutron-rich 196Os nucleus through in-beam γ-ray spectroscopy using a two-proton transfer reaction from a 198Pt target to a 82Se beam. The beam-like recoils were detected and identified with the large-acceptance magnetic spectrometer PRISMA, and the coincident γ rays were measured with the advanced gamma tracking array (AGATA) demonstrator. The de-excitation of the low-lying levels of the yrast-band of 196Os were identified for the first time. The results are compared with state-of-the-art beyond-mean-field calculations, performed for the even-even 188-198Os isotopes. The new results suggest a smooth transition in the Os isotopes from a more axial rotational behavior towards predominately vibrational nuclei through triaxial configurations. An almost perfect γ-unstable/triaxial rotor yrast band is predicted for 196Os which is in agreement with the experimentally measured excited state