The Growth Response to Growth Hormone (GH) Treatment in Children with Isolated GH Deficiency Is Independent of the Presence of the Exon 3-Minus Isoform of the GH Receptor

International audienceAbstract Context: A variant of the human GH receptor (GHR) lacks a 22-amino-acid sequence derived from exon 3 (d3-GHR). It was reported that pediatric patients, born small for gestational age or with idiopathic short stature who were homozygous or heterozygous for this variant responded better to GH treatment than those homozygous for the full-length allele (fl-GHR). Objective: The objective was to study the impact of the GHR genotype on the phenotype and growth response in patients with isolated GH deficiency (IGHD) treated with GH. Design: This was a retrospective, multinational, multicenter observational study. Patients: Patients with IGHD (n = 107) were recruited. Interventions: All patients received GH treatment at replacement doses. The GHR genotype (fl-GHR/fl-GHR, fl-GHR/d3-GHR, or d3-GHR/d3-GHR) was determined by PCR amplification. Main Outcome Measures: Measures included height sd score, height velocity, height velocity sd score at baseline and 1 yr of GH treatment, and their changes. Results: There was no statistically significant difference of the main outcome measures between patients with the d3-GHR allele (n = 48) and patients who were homozygous for the fl-GHR allele (n = 59). Moreover, the genotype group did not contribute significantly to the growth prediction in multiple linear regression models. Conclusions: Our results indicate that the d3-GHR allele does not affect response to GH treatment or contribute to growth predictions in patients with IGHD who received replacement doses of GH aiming to restore a normal GH status. We did not confirm the previously reported data obtained in patients small for gestational age or with idiopathic short stature who received supraphysiological GH doses

Test operation of a 100 kW pilot plant for solar hydrogen production from water on a solar tower

The present work describes the realisation and successful test operation of a 100 kW pilot plant for two-step solar thermo-chemical water splitting on a solar tower at the Plataforma Solar de Almerı´a, which aims at the demonstration of the feasibility of the process on a solar tower platform under real conditions. The process applies multi-valent iron based mixed metal oxides as reactive species which are coated on honeycomb absorbers inside a receiver–reactor. By the introduction of a two-chamber reactor it is possible to run both process concepts in parallel and thus, the hydrogen production process in a quasi-continuous mode. In summer 2008 an exhaustive thermal qualification of the pilot plant took place, using uncoated ceramic honeycombs as absorbers. Some main aspects of these tests were the development and validation of operational and measurement strategy, the gaining of knowledge on the dynamics of the system, in particular during thermal cycling, the determination of the controllability of the whole system, and the validation of practicability of the control concept. The thermal tests enabled to improve, to refine and finally to prove the process strategy and showed the feasibility of the control concept implemented. It could be shown that rapid changeover between the modules is a central benefit for the performance of the process. In November of 2008 the absorber was replaced and honeycombs coated with redox material were inserted. This allowed carrying out tests of hydrogen production by water splitting. Several hydrogen production cycles and metal oxide reduction cycles could be run without problems. Significant concentrations of hydrogen were produced with a conversion of steam of up to 30%

Three Novel Missense Mutations within the LHX4 Gene Are Associated with Variable Pituitary Hormone Deficiencies

Context: The LHX4 LIM-homeodomain transcription factor has essential roles in pituitary gland and nervous system development. Heterozygous mutations in LHX4 are associated with combined pituitary hormone deficiency