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Anorexia Nervosa (AN) is a chronic psychiatric disorder whose pathophysiology is largely unknown but has a significant genetic component. The objective of this work was to identify rare genetic variants of predisposition for anorexia nervosa. We studied 10 families of 15 affected women, 11 cases of restrictive ANR (ANR) and 4 cases of binge-purging AN, and analyzed in trio by new generation sequencing. The variants were filtered by quality controls (blanket, IGV viewer), segregation in familial forms, deleterious in silico prediction of variants (Cadd> 15), and absence or rarity in unaffected controls and in the databases (Gnomad, "Déjà vu" Paris Descartes) (< 1%). The analysis of the de novo variants did not make it possible to identify deleterious candidate variants (with the exception of p.L206 V, deleterious in the LUMAN/CREB3 gene) and recurrent ones. In index cases of familial forms, potential de novo variants have been identified. Dominant model analysis identified 349 potential variants distributed in 110 genes. Analysis of this list of genes by String, David and GeneOntology has identified several biological pathways that may be altered. Three major KEGG pathways could be identified: "neuroactive ligand-receptor interaction" 9 genes, "cholinergic synapse" 6 genes, and "dopaminergic synapse" 6 genes. In addition, the literature analysis identified 24 variants in genes contributing to neuropsychiatric disorders. We identified specific damaging variant in several genes than can play a role in AN. Targeted analyzes of a large cohort of patients should be conducted to confirm our results. This study was supported by Fondation Maladies Rares (#11632) Program high throughput sequencing and rare diseases. [ABSTRACT FROM AUTHOR]

The heat capacity of maltitol has been measured with an adiabatic calorimeter for the crystal from 100 K to 425 K ( T m = 420 K), for the glass from 249 K to T g (around 311 K) and for the liquid from T g to 400 K. The heat of melting is 55.068 kJ/mol. The calorimetric glass transition occurs at about T g = 311 K with a sudden jump of the heat capacity Δ C p ( T g ) of about 243.6 J/(K mol). The excess entropy between the undercooled liquid and the crystal was calculated from the heat capacity data and was used to estimate the Kauzmann temperature T K which was found 50 K below T g . Δ C p ( T g ) and T K for maltitol were compared to other compounds like sugars, polyol and hydrogen bonded liquids. It has been found that the glass former maltitol is a "fragile" liquid on the thermodynamic point of view. [ABSTRACT FROM AUTHOR]

The liquid-solid phase transitions of 1:2 HNO[SUB3]/H[SUB2]O solutions were investigated in bulk samples. Two forms of nitric acid dihydrate (NAD) (denoted further NAD(I) and NAD(II) can precipitate. After cooling down to 200 K, NAD(I) crystallizes and melts congruently at 238 K. On cooling down to 173 K, NAD(I) first crystallizes and a polymorphic form NAD(II) appears on heating at about 210 K, which is governed by a nucleation process at temperatures below 200 K. NAD(II) then transforms into nitric acid trihydrate at 235 K via a peritectic reaction. The existence of the two forms is confirmed by Raman studies. Our infrared experiments on bulk samples are in good agreement with those reported in the literature leading to the conclusion that the NAD(I) studied here is also observed in polar-stratospheric-cloud (PSC) particles. In stratospheric conditions, NAD(II) probably cannot freeze in the PSC particles. [ABSTRACT FROM AUTHOR]

X-ray powder diffraction experiments are performed to prove the possible crystallization of nitric acid dihydrate (HNO3·2H2O, further denoted NAD) and to determine the best thermal conditions for growing a single crystal. It is shown that the kinetic behaviour of NAD strongly depends on the preliminary thermal treatment. One good single crystal obtained by an in situe adapted Bridgman method procedure enabled determination of the crystal structure. The intensities of diffracted lines with h odd are all very weak. The H atom of nitric acid is delocalized to one water molecule leading to an association of equimolar nitrate (NO3−) and an H5O2− ionic group. The asymmetric unit contains two such molecules. These two molecules are related by a pseudo a/2 translation (with a 0.3 Å mean atomic distance difference), except for one H atom of the water molecules (0.86 Å) because of their different orientations in the two molecules. The two molecules, linked by very strong hydrogen bonds, are arranged in layers. Two layers which are linked by weaker hydrogen bonds are approximately oriented along the c axis. The structure may be described by translations of this set of two layers along the c axis without hydrogen bonds leaxding to a two-dimensional hydrogen-bond network. The structures of the monohydrate (NAM) and trihydrate (NAT) are redescribed for comparisons. These structures may be described by one- and three-dimensional hydrogen-bond networks, respectively.