Infantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A

AbstractEpilepsies can be caused by specific genetic anomalies or by non-genetic factors, but in many cases the underlying cause is unknown.Mutations in the SCN1A and SCN2A genes are reported in childhood epilepsies; in particular SCN1A was found mutated in patients with Dravet syndrome and with generalized epilepsy with febrile seizures plus (GEFS+).In this paper we report a patient presenting with an atypical epileptic syndrome whose phenotype partially overlaps both Dravet syndrome and benign familial neonatal-infantile seizures (BFNIS).Array-CGH analysis suggested the presence of a mosaic duplication (about 12Mb) at the level of chromosome 2q23.3q24.3 involving SCN2A and SCN3A genes. Additional analyses (radiolabeled RFLP and quantitative PCR) confirmed the mosaicism of the duplication.We suggest that the array-CGH analysis is mandatory for children presenting with epilepsy and psycho-motor retardation even without dysmorphisms or other clinical features suggesting a specific genetic/epileptic syndrome. The analysis must nevertheless be performed taking into account the possibility of a mosaicism

Multimorbidity and Hospital Admissions in High-Need, High-Cost Elderly Patients

Objective: The aim was to clarify which pairs or clusters of diseases predict the hospital-related events and death in a population of patients with complex health care needs (PCHCN). Method: Subjects classified in 2012 as PCHCN in a local health unit by ACG\uae (Adjusted Clinical Groups) System were linked with hospital discharge records in 2013 to identify those who experienced any of a series of hospital admission events and death. Number of comorbidities, comorbidities dyads, and latent classes were used as exposure variable. Regression analyses were applied to examine the associations between dependent and exposure variables. Results: Besides the fact that larger number of chronic conditions is associated with higher odds of hospital admission or death, we showed that certain dyads and classes of diseases have a particularly strong association with these outcomes. Discussion: Unlike morbidity counts, analyzing morbidity clusters and dyads reveals which combinations of morbidities are associated with the highest hospitalization rates or death

Private equity and venture capital in Italy

This paper examines private equity and venture capital in Italy. The first part looks at the main features of the Italian market and its recent evolution; the second part considers the results of a survey of firms and intermediaries designed to gather information regarding contract features and the characteristics of investee firms and investing intermediaries. Finally, the paper discusses the main obstacles to the development of the sector using information from the survey of intermediaries.private equity, venture capital

WATZON: the Italian network of ecohydrology and critical zone observatories

The Italian initiative WATZON (WATer mixing in the critical ZONe) is a network of instrumented sites, bringing together six pre-existing long-term research observatories monitoring different compartments of the Critical Zone - the Earth's permeable near-surface layer from the tops of the trees to the bottom of the groundwater. These observatories cover different climatic and physiographic characteristics over the country, providing information over a climate and eco-hydrologic transect connecting the Mediterranean to the Alps. With specific initial scientific questions, monitoring strategies, databases, and modeling activities, the WATZON observatories and sites is well representative of the heterogeneity of the critical zone and of the scientific communities studying it. Despite this diversity, all WATZON sites share a common eco-hydrologic monitoring and modelling program with three main objectives: 1) assessing the description of water mixing process across the critical zone by using integrated high-resolution isotopic, geophysical and hydrometeorological measurements from point to catchment scale, under different physiographic conditions and climate forcing; 2) testing water exchange mechanisms between subsurface reservoirs and vegetation, and assessing ecohydrological dynamics in different environments by coupling the high-resolution data set from different critical zone study sites of the initiative with advanced ecohydrological models at multiple spatial scales; 3) developing a process-based conceptual framework of ecohydrological processes in the critical zone to translate scientific knowledge into evidence to support policy and management decisions concerning water and land use in forested and agricultural ecosystems. This work provides an overview of the WATZON network, its objectives, scientific questions, and data management, with a specific focus on existing initiatives for linking data and models based on WATZON data

Assessing root water uptake transit time by simulating isotope transport in Hydrus-1D

Stable isotopes (2H and 18O) are common natural tracers for the investigation of water transport in the soil-plant-atmosphere continuum. Isotopic data can be coupled with soil water content data to inversely estimate soil hydraulic and transport parameters. The calibration of a hydrological model by inverse modelling is a prerequisite to determine the temporal origin of xylem water taken by roots. In this study, we used isotopic data to calibrate Hydrus-1D via inverse modelling to simulate one-dimensional water flow and isotope transport in a controlled soil-plant-atmosphere system. We propose the following protocol i) to estimate root water uptake transit time of irrigation water, and ii) to assess the sensitivity of the transit time distribution to the variation in the water available for root uptake. The dataset was obtained from an isotope-tracing experiment carried out between May and July 2018 on an olive tree placed in a pot inside a glasshouse. Meteorological variables and sap flow were monitored at 5-minute intervals, whereas shallow soil moisture (0-6 cm depth) was measured manually with an impedance probe at the daily timescale. The olive tree was irrigated with water of known isotopic composition. The pot surface was covered by a plastic sheet to avoid evaporation. Soil at different depths, twigs, wood cores and root samples were collected weekly for isotopic analyses. Water from soil and the xylem tissues was extracted by cryogenic vacuum distillation. Based on the results of a previous study carried out on the same dataset, we considered that no isotopic fractionation occurred during the water uptake and the transport within the olive tree. We used soil water content and δ18O data at different soil depths to optimize flow (soil hydraulic and root water uptake parameters) and transport (longitudinal dispersivity) parameters. Numerical simulations of isotope transport were validated with sap flow data (compared to actual transpiration) and δ18O in xylem water. Given that the timing of irrigation water for plant transpiration is fundamental for assessing the vulnerability of olive trees to drought, we will be proposing various scenarios based on different irrigation events to mimic drought periods. Based on these scenarios, we will be evaluating the sensitivity of the root water uptake transit time to the different water availability in the soil profile. Afterwards, the same protocol will be exploited to determine the root water uptake transit time for different tree species under various environmental conditions

Preservation of Auditory P300-Like Potentials in Cortical Deafness

The phenomenon of blindsight has been largely studied and refers to residual abilities of blind patients without an acknowledged visual awareness. Similarly, “deaf hearing” might represent a further example of dissociation between detection and perception of sounds

Robust estimation of bacterial cell count from optical density

Optical density (OD) is widely used to estimate the density of cells in liquid culture, but cannot be compared between instruments without a standardized calibration protocol and is challenging to relate to actual cell count. We address this with an interlaboratory study comparing three simple, low-cost, and highly accessible OD calibration protocols across 244 laboratories, applied to eight strains of constitutive GFP-expressing E. coli. Based on our results, we recommend calibrating OD to estimated cell count using serial dilution of silica microspheres, which produces highly precise calibration (95.5% of residuals <1.2-fold), is easily assessed for quality control, also assesses instrument effective linear range, and can be combined with fluorescence calibration to obtain units of Molecules of Equivalent Fluorescein (MEFL) per cell, allowing direct comparison and data fusion with flow cytometry measurements: in our study, fluorescence per cell measurements showed only a 1.07-fold mean difference between plate reader and flow cytometry data

Comorbid depression in elderly with type 2 diabetes

Aim: To evaluate the potential correlation between depression and type 2 diabetes mellitus (DM2) in patients aged 65 years and over accessing primary health care (PHC) units. Methods: During the last semester of 2008, 109 elderly patients with DM2 (mean age 74.86, sd = 5.72) were examined by GP trainees in PHC practices. Demographics, BMI, waist circumference, fasting blood glucose (FBG), HbA1c and medicine treatment were queried. Dietary and drug therapy compliance and weekly physical activity in recreational time were investigated; expended energy was measured using Metabolic Equivalents (METs). Depression was assessed with the 15-item Geriatric Depression Scale (GDS-15) and mental health was evaluated with the General Health Questionnaire – 12 (GHQ-12). For comparison purposes, a short interview comprising the GDS-15 and GHQ-12 was performed in 52 non diabetic, randomly selected patients. The two groups were properly adjusted for sex and age. Results: Moderate (GDS-15 scores 6–8) and severe depression (GDS-15 >9) were found in 33.9% and 17.4% of the diabetics respectively. Female patients seemed to have better FBG values (r = 0.33, p = 0.006) and more controlled HbA1c (<7%, r = 0.37, p = 0.003). However, only males with regular HbA1c showed significantly lower BMI (Mdn = 27.72, U = 128.00, p <0.001) and waist circumference (Mean = 91.84 cm, t = 3.32, p = 0.002). Diabetics without depression signs were triply likely to do moderate weekly exercise compared with depressed ones (OR = 3.01, 95%CI = 1.36–6.57). Lower GDS-15 and GHQ-12 scores were correlated with more scarce therapy compliance (r = 0.46, p <0.001; r = 0.43, p <0.001 respectively). Diabetics seemed to be 2.83 times more likely to suffer from moderate depression compared with the control patients (95%CI = 1.19–6.68). Conclusions: The findings of our study suggest that moderate depression is a common underlying comorbidity in DM2, affecting aspects of its management such as the physical activity and compliance of medical therapy