A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report.

Background: Multiple acyl-CoA dehydrogenase deficiency (MADD) or glutaric aciduria type II is an extremely rare autosomal recessive inborn error of fatty acid beta oxidation and branched-chain amino acids, secondary to mutations in the genes encoding the electron transfer flavoproteins A and B (ETFs; ETFA or ETFB) or ETF dehydrogenase (ETFDH). The clinical manifestation of MADD are heterogeneous, from severe neonatal forms to mild late-onset forms.

Case Presentation: We report the case of a preterm newborn who died a few days after birth for a severe picture of untreatable metabolic acidosis.

[Histogenic characterization of the cells forming RA pannus].

Objective: This work aims to clarify the histogenesis of the cells forming RA pannus: the pannocytes.

Methods: 15 patients with seropositive RA; 5 controls with post-traumatic knee effusion and 5 with OA knee effusion were included in the study. Synovial tissues and fluids, collected during diagnostic arthrocentesis, were used as a source of cells to be cultured.