Failure of ossification of the occipital bone in mandibuloacral dysplasia type B.

Mandibuloacral dysplasia with type B lipodystrophy is a rare autosomal recessive disease characterized by atrophic skin, lipodystrophy, and skeletal features. It is caused by mutations in ZMPSTE24, a gene encoding a zinc metalloproteinase involved in the post-translational modification of lamin. Nine distinct pathogenic variants have been identified in 11 patients from nine unrelated families with this disorder.

Comparison of three enzyme-linked immunosorbent assays for serologic diagnosis of contagious agalactia in sheep.

Serologic diagnosis of ovine contagious agalactia (Mycoplasma agalactiae) with the enzyme-linked immunosorbent assay (ELISA) developed by Agence Française de Sécurité Sanitaire des Aliments (AFSSA) may produce a few false-positive (FP) and false-negative (FN) results. When the prevalence of disease is low, these erroneous results may generate problems for eradication schemes. To prevent this, 2 commercial ELISAs were compared with the AFSSA ELISA.