Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome.

KBG syndrome is a rare genetic disorder caused by heterozygous pathogenic variants in ANKRD11. Affected individuals have developmental delay, short stature, characteristic facial features, and other dysmorphic findings. To date, a spectrum of unspecific neuroradiological defects has been reported in KBG patients, such as cortical defects, white matter abnormalities, corpus callosum, and cerebellar vermis hypoplasia.Deep clinical and neuroradiological phenotyping and genotype of a patient presenting with mild cognitive and behavioral problems were obtained after written informed consent.We herein describe the first KBG patient presenting with cerebellar heterotopia, a heterogeneous malformation characterized by the presence of clusters of neurons within the white matter of cerebellar hemispheres.This novel association broadens the neuroradiological spectrum of KBG syndrome, and further prompts to investigate the potential functions of ANKRD11 in cerebellar development.

A genetic algorithm-based strategic planning framework for optimising accessibility and costs of general practices in Northland, New Zealand.

Shortage of general practitioners (GP) is a challenge worldwide, not only in Europe, but also in countries like New Zealand. Providing primary care in rural areas is especially challenging. In order to support decision makers, it is necessary to first assess the current GP coverage and then to determine different scenarios and plans for the future. In this paper, we first present a thorough overview of related literature on locating GP practices. Second, we propose an approach for assessing the GP coverage and determining future GP locations based on a genetic algorithm framework. As a use case, we have chosen the rural New Zealand region of Northland. We also perform a sensitivity analysis for the main input parameters.

Production of Hydronium Ion (H3O)+ and Protonated Water Clusters (H2O)nH+ after Energetic Ion Bombardment of Water Ice in Astrophysical Environments.

Water ice exists on many objects in space. The most abundant icy species, among them water, are present in the icy satellites of the outer Solar System giant planets. The nuclei of comets, which are mainly composed of water ice, give another example of its abundance. In the interstellar medium (ISM), ice mantles, formed by molecular species sticking on dust grains, consist mainly of water ice. All these objects are exposed to ionizing radiation like ions, UV photons, and electrons. Sputtering of atoms, molecules, ions, and radicals from icy surfaces may populate and maintain exospheres of icy objects in the Solar System. In other respects, ionized hydrides such as OH+, H2O+, and H3O+ have been detected in the gas phase in star-forming regions. Interactions with cosmic rays could be an additional explanation to the current models for the formation of those species. In fact, laboratory simulations showed that the main components of the sputtered ionic species from water ice are oxygen hydrides. In this work, water ice targets were irradiated at several temperatures (10-200 K) by 90 keV O6+ ions, yielding an electronic stopping power of about 12 eV/Å, when the nuclear stopping power is comparable to the electronic stopping power. Sputtering of secondary ions after bombardment of the ice target was analyzed by time-of-flight mass spectrometry (TOF-SIMS). Besides hydrogen ions (H+, H2+, H3+), also O+, O2+, OH+, (H2O)+, and clusters of (H2O)nH+ with n = 1-8 are emitted. Our results show a progressive yield decrease with increasing temperature of all of the detected species. This is related to the structure of the ice: the ionic sputtering yield for crystalline ice is much lower than for an amorphous ice. For instance, amorphous ice at 10 K exhibits a yield of the order of 2 × 10-6 secondary (H2O)nH+ hydride ions/projectile (with n = 1-8). As the temperature is increasing toward the phase transition to crystalline ice, the yields decrease by about one order of magnitude.

Mid-IR band strength, density, refractive index, and thermal evolution study for solid CH2DOH pure and in astrophysical relevant mixtures.

We present a novel experimental study on solid CH2DOH pure and in astrophysical relevant mixtures. Solid samples were accreted under ultra high vacuum conditions at 17 K and were analyzed by mid-infrared transmission spectroscopy. Refractive index, density, and mid-IR band strength values were measured for pure solid CH2DOH. The refractive index was also measured for CH2DOH:H2O, CH2DOH:CO, and CH2DOH:CH3OH mixtures. For all samples, the thermal evolution of the main band profile was studied. We used the interference laser technique (HeNe laser, λ = 543.5 nm) to measure the samples thickness and a numerical method to measure the refractive index starting from the amplitude of the interference curve. We obtained the ice density through the Lorentz-Lorenz relation. To calculate the band strength values we used the linear fit of the integrated band intensities with respect to the column densities. Samples deposited at 17 K were warmed up to their sublimation temperature. Spectra were taken at selected temperatures to study their thermal evolution. The results are discussed in view of their relevance for the interpretation of astronomical IR spectra.

Novel measurements of refractive index, density and mid-infrared integrated band strengths for solid O(2), N(2)O and NO(2):N(2)O(4) mixtures.

We present novel measurements of the refractive index, density and integrated band strengths of mid-infrared features of solid N(2)O at 16K and of NO(2) and N(2)O(4) in two frozen NO(2):N(2)O(4) mixtures deposited at 16 and 60K. The refractive index and density measurements were performed also for frozen O(2) deposited at 16K. In this case, the integrated band strength values could not be determined since O(2) is a homonuclear molecule and therefore its fundamental mode is not infrared active. The solid samples were analysed by infrared spectroscopy in the 8000/800cm(-1) range. The sample thickness was measured by the interference curve obtained using a He-Ne laser operating at 543nm. The refractive index at this laser wavelength was obtained, by numerical methods, from the measured amplitude of the interference curve. The density values were obtained using the Lorentz-Lorenz relation. Integrated band strength values were then obtained by a linear fit of the integrated band intensities plotted versus column density values. The astrophysical relevance of these novel measurements is briefly discussed.