On the variational limits of lattice energies on prestrained elastic bodies

We study the asymptotic behaviour of the discrete elastic energies in presence of the prestrain metric $G$, assigned on the continuum reference configuration $\Omega$. When the mesh size of the discrete lattice in $\Omega$ goes to zero, we obtain the variational bounds on the limiting (in the sense of $\Gamma$-limit) energy. In case of the nearest-neighbour and next-to-nearest-neibghour interactions, we derive a precise asymptotic formula, and compare it with the non-Euclidean model energy relative to $G$

Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders

BACKGROUND:Mutations in mediator of RNA polymerase II transcription subunit 12 homolog (MED12, OMIM 300188) cause X-linked intellectual disability (XLID) disorders including FG, Lujan, and Ohdo syndromes. The Gli3-dependent Sonic Hedgehog (SHH) signaling pathway has been implicated in the original FG syndrome and Lujan syndrome. How are SHH-signaling defects related to the complex clinical phenotype of MED12-associated XLID syndromes are not fully understood. METHODS:Quantitative RT-PCR was used to study expression levels of three SHH-signaling genes in lymophoblast cell lines carrying four MED12 mutations from four unrelated XLID families. Genotype and phenotype correlation studies were performed on these mutations. RESULTS:Three newly identified and one novel MED12 mutations in six affected males from four unrelated XLID families were studied. Three mutations (c.2692A>G; p.N898D, c.3640C>T; p.R1214C, and c.3884G>A; p.R1295H) are located in the LS domain and one (c.617G>A; p.R206Q) is in the L domain of MED12. These mutations involve highly conserved amino acid residues and segregate with ID and related congenital malformations in respective probands families. Patients with the LS-domain mutations share many features of FG syndrome and some features of Lujan syndrome. The patient with the L-domain mutation presented with ID and predominant neuropsychiatric features but little dysmorphic features of either FG or Lujan syndrome. Transcript levels of three Gli3-dependent SHH-signaling genes, CREB5, BMP4, and NEUROG2, were determined by quantitative RT-PCR and found to be significantly elevated in lymphoblasts from patients with three mutations in the MED12-LS domain. CONCLUSIONS:These results support a critical role of MED12 in regulating Gli3-dependent SHH signaling and in developing ID and related congenital malformations in XLID syndromes. Differences in the expression profile of SHH-signaling genes potentially contribute to variability in clinical phenotypes in patients with MED12-related XLID disorders.Siddharth Srivastava, Tejasvi Niranjan, Melanie M. May, Patrick Tarpey, William Allen ... Jozef Gecz ... et al

Polarized Light Imaging of the Myoarchitecture in Tetralogy of Fallot in the Perinatal Period

International audienceBackground: The pathognomonic feature of tetralogy of Fallot (ToF) is the antero-cephalad deviation of the outlet septum in combination with an abnormal arrangement of the septoparietal trabeculations

More on: asymptomatic thrombophilia--a family affair.

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High mobility electron-conducting thin-film transistors by organic vapor phase deposition

In this letter, we report on the growth of thin films of N,N-'-ditridecylperylene-3,4,9,10-tetracarboxylic diimide (PTCDI-C13H27) by organic vapor phase deposition (OVPD). Uniform films are deposited with a material utilization efficiency of 59 +/- 4% and deposition rates up to 15 angstrom/s. Top-contact transistors based on OVPD-grown PTCDI-C13H27 show high n-type mobilities (up to 0.3 cm(2)/V s) and reproducible characteristics. The influence of deposition parameters on electrical properties is discussed. (C) 2008 American Institute of Physics

Fetal lung volume in congenital diaphragmatic hernia

In a retrospective study of 22 neonates with congenital diaphragmatic hernia, fetal lung volume (FLV) measured by magnetic resonance imaging was associated with survival; the best FLV ratio cut‐off to predict mortality was 30% of expected FLV. This study supports a correlation between FLV and the chances of survival

Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene

International audienceHoloprosencephaly (HPE) is the most common forebrain defect in humans. It results from incomplete midline cleavage of the prosencephalon and can be caused by environmental and genetic factors. HPE is usually described as a continuum of brain malformations from the most severe alobar HPE to the middle interhemispheric fusion variant or syntelencephaly. A microform of HPE is limited to craniofacial features such as congenital nasal pyriform aperture stenosis and single central maxillary incisor, without brain malformation. Among the heterogeneous causes of HPE, point mutations and deletions in the SHH gene at 7q36 have been identified as well as extremely rare chromosomal rearrangements in the long-range enhancers of this gene. Here, we report a boy with an HPE microform associated with a Currarino syndrome. Array CGH detected a de novo 2.7-Mb deletion in the 7q36.3 region including the MNX1 gene, usually responsible for the Currarino triad but excluding SHH, which is just outside the deletion. This new case provides further evidence of the importance of the SHH long-range enhancers in the HPE spectrum