The Mode of Inheritance of Scheuermann’s Disease

The mode of Scheuermann’s disease inheritance and its phenotypic traits in probands and their relatives were studied in 90 pedigrees (90 probands and 385 relatives). The disorder was identified as a genetically related pathology inherited by autosomal dominant type, controlled by a mutant major gene, as a kyphotic deformity without signs of vertebral bodies’ anomaly and torsion. Morphological and biochemical studies showed disturbance in the structure of vertebral growth plate anterior aspects at the level of deformity, defects in proliferation and differentiation of chondrocytes, and change in proteoglycan spectrum in cells and matrix. Twelve candidate genes were studied in chondrocytes isolated from vertebral growth plates of patients with Scheuermann’s disease. The study results included disorder in the IHH gene expression and preservation of the expression of PAX1, two aggrecan isoforms, link protein, types I and II collagen, lumican, versican, growth hormone and growth factor receptor genes, and proliferation gene. Preservation of the SOX9 gene (transcription gene) probably indicates posttranscriptional genetic disorders. The study is under way

Measurement of the nucleon spin structure functions for 0.01<Q2<10.01<Q^2<1~GeV2^2 using CLAS

International audienceThe spin structure functions of the proton and the deuteron were measured during the EG4 experiment at Jefferson Lab in 2006. Data were collected for longitudinally polarized electron scattering off longitudinally polarized NH$_3$ and ND$_3$ targets, for $Q^2$ values as small as 0.012 and 0.02 GeV$^2$, respectively, using the CEBAF Large Acceptance Spectrometer (CLAS). This is the archival paper of the EG4 experiment that summaries the previously reported results of the polarized structure functions $g_1$, $A_1F_1$, and their moments $\overline \Gamma_1$, $\overline \gamma_0$, and $\overline I_{TT}$, for both the proton and the deuteron. In addition, we report on new results on the neutron $g_1$ extracted by combining proton and deuteron data and correcting for Fermi smearing, and on the neutron moments $\overline \Gamma_1$, $\overline \gamma_0$, and $\overline I_{TT}$ formed directly from those of the proton and the deuteron. Our data are in good agreement with the Gerasimov-Drell-Hearn sum rule for the proton, deuteron, and neutron. Furthermore, the isovector combination was formed for $g_1$ and the Bjorken integral $\overline \Gamma_1^{p-n}$, and compared to available theoretical predictions. All of our results provide for the first time extensive tests of spin observable predictions from chiral effective field theory ($\chi$EFT) in a $Q^2$ range commensurate with the pion mass. They motivate further improvement in $\chi$EFT calculations from other approaches such as the lattice gauge method

Measurement of the nucleon spin structure functions for 0.01<Q2<10.01<Q^2<1~GeV2^2 using CLAS

International audienceThe spin structure functions of the proton and the deuteron were measured during the EG4 experiment at Jefferson Lab in 2006. Data were collected for longitudinally polarized electron scattering off longitudinally polarized NH$_3$ and ND$_3$ targets, for $Q^2$ values as small as 0.012 and 0.02 GeV$^2$, respectively, using the CEBAF Large Acceptance Spectrometer (CLAS). This is the archival paper of the EG4 experiment that summaries the previously reported results of the polarized structure functions $g_1$, $A_1F_1$, and their moments $\overline \Gamma_1$, $\overline \gamma_0$, and $\overline I_{TT}$, for both the proton and the deuteron. In addition, we report on new results on the neutron $g_1$ extracted by combining proton and deuteron data and correcting for Fermi smearing, and on the neutron moments $\overline \Gamma_1$, $\overline \gamma_0$, and $\overline I_{TT}$ formed directly from those of the proton and the deuteron. Our data are in good agreement with the Gerasimov-Drell-Hearn sum rule for the proton, deuteron, and neutron. Furthermore, the isovector combination was formed for $g_1$ and the Bjorken integral $\overline \Gamma_1^{p-n}$, and compared to available theoretical predictions. All of our results provide for the first time extensive tests of spin observable predictions from chiral effective field theory ($\chi$EFT) in a $Q^2$ range commensurate with the pion mass. They motivate further improvement in $\chi$EFT calculations from other approaches such as the lattice gauge method