Copy number variants in short children born small for gestational age.

Background/aims: In addition to genome-wide association studies (GWAS), height-associated genes may be uncovered by studying individuals with extreme short or tall stature.

Methods: Genome-wide analysis for copy number variants (CNVs), using single nucleotide polymorphism (SNP) arrays, was performed in 49 index cases born small for gestational age with persistent short stature. Segregation analysis was performed, and genes in CNVs were compared with information from GWAS, gene expression in rodents' growth plates, and published information.

Alu-mediated recombination defect in IGF1R: haploinsufficiency in a patient with short stature.

Background: The insulin-like growth factor (IGF) receptor (IGF1R) is essential for normal development and growth. IGF1R mutations cause IGF-1 resistance resulting in intrauterine and postnatal growth failure. The phenotypic spectrum related to IGF1R mutations remains to be fully understood.

The use of bone age in clinical practice - part 1.

This review examines the role of skeletal maturity ('bone age', BA) assessment in clinical practice. BA is mainly used in children with the following conditions: short stature (addressed in part 1 of this review), tall stature, early or late puberty, and congenital adrenal hyperplasia (all addressed in part 2). Various manual and automatic methods of BA assessment have been developed.

Association between head circumference and body size.

Background/aims: Studies on the association between head circumference (HC) and height or weight have shown variable results.

Methods: Using data from the Dutch nationwide survey performed in 1997 (n = 14,500), we calculated correlations for different ages, and fitted a regression model for the estimation of HC. HC versus height charts were created for different age groups.

The Auxological and Biochemical Continuum of Short Children Born Small for Gestational Age (SGA) or with Normal Birth Size (Idiopathic Short Stature).

Objective. Retrospective single-centre analysis of growth characteristics in 182 healthy short children born small for gestational age (SGA) or appropriate for gestational age (idiopathic short stature, ISS). Methods.

Network of European studies of genes in growth (NESTEGG).

The network of European studies of genes in growth (NESTEGG) is an international growth genomics project, focusing on the birth size phenotypes of small for gestational age (SGA) and idiopathic short stature. Seven hundred controls and 1,275 cases with their parents have been recruited. Detailed clinical histories and auxological measurements are recorded in a clinical database.

Material-dependent levels of heat-shock protein 70 (hsp70) in human plasma following contact of blood with artificial surfaces.

Recently, it has been shown that heat-shock protein 70 (hsp70) functions in a dual role as a chaperone and a cytokine. However, no information is available on the occurrence of hsp70 in the extracellular milieu or on its ability to modulate cellular immune response. This study shows a material-dependent increase of hsp70 levels in plasma following contact of fresh heparinized whole human blood with three different biomaterials (PVC, heparin-coated PVC, Silicone).