Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town

Introduction: Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease due to the peripheral resistance to aldosterone. Its clinical spectrum includes neonatal salt loss syndrome with hyponatremia and hypochloraemia, hyperkalemia, metabolic acidosis and increased plasmatic levels of aldosterone. Two genetically distinct forms of disease, renal and systemic, have been described, showing a wide clinical expressivity. Mutations in the genes encoding for the subunits of the epithelial sodium channels (ENaC) are responsible for generalized PHA1. Patients’ presentation: We hereby report on two Italian patients with generalized PHA1, coming from the same small town in the center of Sicily. The first patient is a male child, born from the first pregnancy of healthy consanguineous Sicilian parents. A novel SCNN1A (sodium channel epithelial subunit alpha) gene mutation, inherited from both heterozygous parents, was identified by next generation sequencing (NGS) in the homozygous child (and later, also in the heterozygous maternal aunt). A more detailed family history disclosed a possible related twenty-year-old girl, belonging to the same Sicilian small town, with referred neonatal salt loss syndrome associated to hyperkalemia, and subsequent normal growth and neurodevelopment. This second patient had a PHA1 clinical diagnosis when she was about 1 year old. The genetic investigation was, then, extended to her and to her family, revealing the same mutation in the homozygous girl and in the heterozygous parents. Conclusions: The neonatologist should consider PHA1 diagnosis in newborns showing hyponatremia, hyperkalemia and metabolic acidosis, after the exclusion of a salting-loss form of adrenogenital syndrome. The increased plasmatic levels of aldosterone and aldosterone/renin ratio, associated to a poor response to steroid administration, confirmed the diagnosis in the first present patient. An accurate family history may be decisive to identify the clinical picture. A multidisciplinary approach and close follow-up evaluations are requested, in view of optimal management, adequate growth and development of patients. Next generation sequencing (NGS) techniques allowed the identification of the SCNN1A gene mutation either in both patients or in other heterozygous family members, enabling also primary prevention of disease. Our report may broaden the knowledge of the genetic and molecular bases of PHA1, improving its clinical characterization and providing useful indications for the treatment of patients. Clinical approach must be personalized, also in relation to long-term survival and potential multiorgan complications

The Embioptera from the Strait of Sicily Islands: first records from Pantelleria and Lampedusa and new data from Lampione (Sicily, Italy)

The occurrence of Embioptera in the Strait of Sicily islands was up to date known only from Lampione (the smallest of the Pelagie islands), where the only species reported was provisionally assigned to Embia ramburi Rimski-Korsakow, 1905. Based on material recently collected by the authors, the presence of Embioptera is here reported for the first time in the Islands of Pantelleria (Sicily, Trapani) and Lampedusa (Sicily, Agrigento). In the Island of Pantelleria the occurrence of the typical small silky tunnels produced by Embioptera has been verified in many sites, from sea level to Montagna Grande (836 m). In many of these sites, several juveniles and some adult or subadult specimens were collected and reared, obtaining an adult male belonging to Cleomia guareschii Stefani, 1953. Moreover, a single adult male of E. ramburi was collected in Lampedusa, the largest of the Pelagian Islands. Finally, the fauna of Embioptera from Lampione remains still poorly known, as it was possible to examine only two females recently collected in the island, and identified as Embia sp

Influence of distance from the host on parasitisation by Psyttalia concolor (Szépligeti) (Hymenoptera: Braconidae)

The olive fruit fly, Bactrocera oleae, is considered the main olive pest worldwide, and has been the target of biological control programmes through the release of the braconid parasitoid Psyttalia concolor. Laboratory tests were performed to evaluate the influence of distance from the host on parasitisation, placing larvae of the substitute host Ceratitis capitata at seven distances (0, 0.5, 1, 1.5, 2, 2.5, 3 mm) and four different time periods (7, 15, 30, 60 min). Moreover, field collected olives of Ogliarola Barese cultivar infested by B. oleae were exposed to P. concolor females to confirm its ability to parasitise B. oleae in small olives. Psyttalia concolor oviposition was inhibited at 2.5 and 3 mm due to the ovipositor length of the parasitoid females (2.7 mm). Hosts were easily parasitised at distances between 0 and 1.5 mm. The thin fruit pulp (up to 3.5 mm) of field collected olives allowed the parasitisation to occur also in mature fruits. At the best combination distance/time (0 mm, 30 min), tests performed with different larvae/parasitoid female ratio showed an increasing emergence of P. concolor (from 20% to 57%) with larvae/parasitoid ratio increasing from 0.11 to 0.74. The results of the present study might optimise the mass rearing of P. concolor, through a proper setting of its parameters, such as the host/parasitoid ratio, exposure distances, and interaction time

Radiative decays of the (0+,1+)(0^+,1^+) strange-bottom mesons

In this article, we assume that the $(0^+,1^+)$ strange-bottom mesons are the conventional $b\bar{s}$ mesons, and calculate the electromagnetic coupling constants $d$, $g_1$, $g_2$ and $g_3$ using the light-cone QCD sum rules. Then we study the radiative decays $B_{s0}\to B_s^* \gamma$, $B_{s1}\to B_s \gamma$, $B_{s1}\to B_s^* \gamma$ and $B_{s1}\to B_{s0} \gamma$, and observe that the widths are rather narrow. We can search for the $(0^+,1^+)$ strange-bottom mesons in the invariant $B_s \pi^0$ and $B^*_s \pi^0$ mass distributions in the strong decays or in the invariant $B_s^*\gamma$ and $B_s\gamma$ mass distributions in the radiative decays.Comment: 16 pages, 4 figures, revised versio

Isocurvature modes and Baryon Acoustic Oscillations

The measurement of Baryonic Acoustic Oscillations from galaxy surveys is well known to be a robust and powerful tool to constrain dark energy. This method relies on the knowledge of the size of the acoustic horizon at radiation drag derived from Cosmic Microwave Background Anisotropy measurements. In this paper we quantify the effect of non-standard initial conditions in the form of an isocurvature component on the determination of dark energy parameters from future BAO surveys. In particular, if there is an isocurvature component (at a level still allowed by present data) but it is ignored in the CMB analysis, the sound horizon and cosmological parameters determination is biased, and, as a consequence, future surveys may incorrectly suggest deviations from a cosmological constant. In order to recover an unbiased determination of the sound horizon and dark energy parameters, a component of isocurvature perturbations must be included in the model when analyzing CMB data. Fortunately, doing so does not increase parameter errors significantly.Comment: 23 pages, 3 figure

Do Grapholita funebrana Infestation Rely on Specific Plum Fruit Features?

The effective control of the plum fruit moth, Grapholita funebrana (Lepidoptera: Tortricidae) still represents a difficult challenge for organic plum farming. Little information is available on the susceptibility of plum cultivars to this moth pest. We investigated the roles of several fruit parameters (i.e., shape, volume, hardness, fruit colour, and physiochemical properties) on the susceptibility of four different plum cultivars (Angeleno, Friar, President and Stanley) to G. funebrana attack. Field data demonstrated the importance of some fruit parameters (i.e., elongation index, sugar degree, titratable acidity, cover colour percentage) on susceptibility to G. funebrana infestation. Under laboratory conditions, colour and shape had a significant role in determining the time spent on false fruits, i.e., female moths preferred yellow and rounded fruits over elongated red or green fruits. Angeleno (yellow and rounded fruits) and Stanley (green and elongated fruits) were the most and least susceptible cultivars, respectively. Overall, this study adds useful knowledge about plum cultivar susceptibility to G. funebrana. Information reported here may be useful to improve integrated pest management strategies both in conventional and organic orchards because the use of less susceptible cultivars may reduce insecticidal treatments, limiting the development of resistance in target insects and the harmful side effects on beneficial species

Neoadjuvant eribulin mesylate following anthracycline and taxane in triple negative breast cancer: Results from the HOPE study

Background Eribulin mesylate (E) is indicated for metastatic breast cancer patients previously treated with anthracycline and taxane. We argued that E could also benefit patients eligible for neoadjuvant chemotherapy. Methods Patients with primary triple negative breast cancer 2 cm received doxorubicin 60 mg/m2 and paclitaxel 200 mg/m2 x 4 cycles (AT) followed by E 1.4 mg/m2 x 4 cycles. Primary endpoint was pathological complete response (pCR) rate; secondary and explorative endpoints included clinical/metabolic response rates and safety, and biomarker analysis, respectively. Using a two-stage Simon design, 43 patients were to be included provided that 4 of 13 patients had achieved pCR in the first stage of the study. Results In stage I of the study 13 women were enrolled, median age 43 years, tumor size 2–5 cm in 9/13 (69%), positive nodal status in 8/13 (61%). Main grade 3 adverse event was neutropenia (related to AT and E in 4 and 2 cases, respectively). AT followed by E induced clinical complete + partial responses in 11/13 patients (85%), pCR in 3/13 (23%). Median measurements of maximum standardized uptake value (SUVmax) resulted 13, 3, and 1.9 at baseline, after AT and E, respectively. Complete metabolic response (CMR) occurred after AT and after E in 2 and 3 cases, respectively. Notably, 2 of the 5 (40%) patients with CMR achieved pCR at surgery. Immunostaining of paired pre-/post-treatment tumor specimens showed a reduction of β-catenin, CyclinD1, Zeb-1, and c-myc expression, in the absence of N-cadherin modulation. The study was interrupted at stage I due to the lack of the required patients with pCR. Conclusions Despite the early study closure, preoperative E following AT showed clinical and biological activity in triple negative breast cancer patients. Furthermore, the modulation of β-catenin pathway core proteins, supposedly outside the domain of epithelial–mesenchymal transition, claims for further investigation. Trial registration EU Clinical Trial Register, EudraCT number 2012-004956-12

First Year Wilkinson Microwave Anisotropy Probe (WMAP) Observations: Implications for Inflation

We confront predictions of inflationary scenarios with the WMAP data, in combination with complementary small-scale CMB measurements and large-scale structure data. The WMAP detection of a large-angle anti-correlation in the temperature--polarization cross-power spectrum is the signature of adiabatic superhorizon fluctuations at the time of decoupling. The WMAP data are described by pure adiabatic fluctuations: we place an upper limit on a correlated CDM isocurvature component. Using WMAP constraints on the shape of the scalar power spectrum and the amplitude of gravity waves, we explore the parameter space of inflationary models that is consistent with the data. We place limits on inflationary models; for example, a minimally-coupled lambda phi^4 is disfavored at more than 3-sigma using WMAP data in combination with smaller scale CMB and large scale structure survey data. The limits on the primordial parameters using WMAP data alone are: n_s(k_0=0.002 Mpc^{-1})=1.20_{-0.11}^{+0.12}, dn/dlnk=-0.077^{+0.050}_{- 0.052}, A(k_0=0.002 Mpc}^{-1})=0.71^{+0.10}_{-0.11} (68% CL), and r(k_0=0.002 Mpc^{-1})<1.28 (95% CL).Comment: Accepted by ApJ; 49 pages, 9 figures. V2: Gives constraints from WMAP data alone. Corrected approximation which made the constraints in Table 1 to shift slightly. Corrected the Inflation Flow following the revision to Kinney, astro-ph/0206032. No conclusions have been changed. For a detailed list of changes see http://www.astro.princeton.edu/~hiranya/README.ERRATA.tx

Analysis of an atom laser based on the spatial control of the scattering length

In this paper we analyze atom lasers based on the spatial modulation of the scattering length of a Bose-Einstein Condensate. We demonstrate, through numerical simulations and approximate analytical methods, the controllable emission of matter-wave bursts and study the dependence of the process on the spatial dependence of the scattering length along the axis of emission. We also study the role of an additional modulation of the scattering length in time.Comment: Submitted to Phys. Rev.

Prospects in Constraining the Dark Energy Potential

We generalize to non-flat geometries the formalism of Simon et al. (2005) to reconstruct the dark energy potential. This formalism makes use of quantities similar to the Horizon-flow parameters in inflation, can, in principle, be made non-parametric and is general enough to be applied outside the simple, single scalar field quintessence. Since presently available and forthcoming data do not allow a non-parametric and exact reconstruction of the potential, we consider a general parametric description in term of Chebyshev polynomials. We then consider present and future measurements of H(z), Baryon Acoustic Oscillations surveys and Supernovae type 1A surveys, and investigate their constraints on the dark energy potential. We find that, relaxing the flatness assumption increases the errors on the reconstructed dark energy evolution but does not open up significant degeneracies, provided that a modest prior on geometry is imposed. Direct measurements of H(z), such as those provided by BAO surveys, are crucially important to constrain the evolution of the dark energy potential and the dark energy equation of state, especially for non-trivial deviations from the standard LambdaCDM model.Comment: 22 pages, 7 figures. 2 references correcte