Short 4th toes in rett-syndrome - a biological indicator

Classic Rett syndrome is now well-known as a non-dysmorphic developmental disorder almost certainly of genetic origin. Short 4th toe (uni- or bi-lateral) is inherited as an autosomal dominant with 27 % penetrance and is found also in certain dysmorphic syndromes. Having observed the anomaly in several Rett cases, we examined a cohort of classic Rett people at advisory clinics and all the residents in an adult learning disabled hospital in order to determine the significance of the association. Among the Rett clinic group 28 of 137 showed the anomaly (20 %). Among the heterogeneous hospital group it was found in 19 of 526 people, 9 of 206 females (4 %) and 10 of 320 males (3 %). Rett syndrome was present in 7 % of all the women (14 of 206 women). Four of the Rett women showed the toe anomaly (28 % of the Rett cases). The anomaly was found in 4 men and 4 women with Down syndrome, representing 16 % (8 of 49). Diagnoses in other men with the anomaly included foetal alcohol syndrome, toxoplasmosis, 18/2 translocation and birth injury. The only other woman with the anomaly was profoundly disabled with short limbs. The strong positive association of the anomaly with Rett syndrome and Down syndrome throws new light on the developmental processes affected by these diseases

Measurement of the eta(c)(1S) production cross-section in p p collisions at root s=13TeV

Using a data sample corresponding to an integrated luminosity of 2.0 fb-1, collected by the LHCb experiment, the production of the \u3b7c(1 S) state in proton\u2013proton collisions at a centre-of-mass energy of s=13TeV is studied in the rapidity range 2.0 < y< 4.5 and in the transverse momentum range 6.5<14.0GeV. The cross-section for prompt production of \u3b7c(1 S) mesons relative to that of the J/ \u3c8 meson is measured using the pp\uaf decay mode and is found to be \u3c3\u3b7c(1S)/\u3c3J/\u3c8=1.69\ub10.15\ub10.10\ub10.18. The quoted uncertainties are, in order, statistical, systematic and due to uncertainties on the branching fractions of the J/\u3c8\u2192pp\uaf and \u3b7c\u2192pp\uaf decays. The prompt \u3b7c(1 S) production cross-section is determined to be \u3c3\u3b7c(1S)=1.26\ub10.11\ub10.08\ub10.14\u3bcb, where the last uncertainty includes that on the J/ \u3c8 meson cross-section. The ratio of the branching fractions of b-hadron decays to the \u3b7c(1 S) and J/ \u3c8 states is measured to be Bb\u2192\u3b7cX/Bb\u2192J/\u3c8X=0.48\ub10.03\ub10.03\ub10.05, where the last uncertainty is due to those on the branching fractions of the J/\u3c8\u2192pp\uaf and \u3b7c\u2192pp\uaf decays. The difference between the J/ \u3c8 and \u3b7c(1 S) masses is also determined to be 113.0\ub10.7\ub10.1MeV, which is the most precise single measurement of this quantity to date