Squamous cell carcinoma complicating epidermolysis bullosa in a 6-year-old girl

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare form of epidermolysis bullosa (EB) that presents with generalized blistering since birth. Squamous cell carcinoma (SCC) is the most common cutaneous malignancy seen in RDEB, starting from second decade onwards. We report a case of SCC complicating RDEB in a 6-year-old girl.     

Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening

The isobutyryl-CoA dehydrogenase (IBD) enzyme is involved in the degradation of valine. IBD deficiency was first reported in 1998 and subsequent genetic investigations identified acyl-CoA dehydrogenase (ACAD) 8, now IBD, as the gene responsible for IBD deficiency. Only three individuals homozygous or compound heterozygous for variations in the IBD gene have been reported. We present IBD deficiency in an additional four newborns with elevated C(4)-carnitine identified by tandem mass spectrometry (MS/MS) screening in Denmark and the United States. Three showed urinary excretions of isobutyryl-glycine, and in vitro probe analysis of fibroblasts from two newborns indicated enzymatic IBD defect. Molecular genetic analysis revealed seven new rare variations in the IBD gene (c.348C>A, c.400G>T, c.409G>A, c.455T>C, c.958G>A, c.1000C>T and c.1154G>A). Furthermore, sequence analysis of the short-chain acyl-CoA dehydrogenase (SCAD) gene revealed heterozygosity for the prevalent c.625G>A susceptibility variation in all newborns and in the first reported IBD patient. Functional studies in isolated mitochondria demonstrated that the IBD variations present in the Danish newborn (c.409G>A and c.958G>A) together with a previously published IBD variation (c.905G>A) disturbed protein folding and reduced the levels of correctly folded IBD tetramers. Accordingly, low/no IBD residual enzyme activity was detectable when the variant IBD proteins were overexpressed in Chang cells.     

Paraffin tissue block radiography: adjunct to breast specimen radiography

Radiography of specimens is an essential step in confirming excision of nonpalpable breast lesions. On occasion, however, the pathologist may not identify the lesion histologically. The authors report five cases in which suspicious microcalcifications were included in the excised tissue but were not identified by the pathologist. In all five, paraffin tissue block radiography enabled identification of the specific blocks containing the microcalcifications. The correct tissue blocks were then sectioned again, and the microcalcifications were identified histopathologically. In one case, the initial diagnosis of intraductal hyperplasia was changed to intraductal carcinoma with focal invasion. When the pathologist cannot identify the calcifications on initial histopathologic sections, this technique may assist in identification of the mammographic abnormality.     

Recent data on the mechanism of action of theophylline

Since Sutherland's work simply based on the inhibition of phosphodiesterase was questioned, other researches have been carried out, indicating that many mechanisms located in the nervous system, the smooth muscle, and the immunity system interfere. The participation of receptors to adenosine, intracellular calcium ions, regulating calciproteins and autacoids such as prostaglandins was the purpose of numerous experimental researches that allow today to fill up the gap left by the fact that the inhibitor of phosphodiesterase was questioned. However, there are not sufficient but there are many seducing research and hypotheses.