Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry.

Background: Oligosaccharidoses, which belong to the lysosomal storage diseases, are inherited metabolic disorders due to the absence or the loss of function of one of the enzymes involved in the catabolic pathway of glycoproteins and indirectly of glycosphingolipids. This enzymatic deficiency typically results in the abnormal accumulation of uncompletely degraded oligosaccharides in the urine. Since the clinical features of many of these disorders are not specific for a single enzyme deficiency, unambiguous screening is critical to limit the number of costly enzyme assays which otherwise must be performed.

Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia.

The role of a secondary respiratory chain deficiency as an additional mechanism to intoxication, leading to development of long-term energy-dependent complications, has been recently suggested in patients with propionic acidemia (PA). We show for the first time a coenzyme Q(10) (CoQ(10)) functional defect accompanied by a multiple organ oxidative phosphorylation (OXPHOS) deficiency in a child who succumbed to acute heart failure in the absence of metabolic stress. Quinone-dependent activities in the liver (complex I+III, complex II+III) were reduced, suggesting a decrease in electron transfer related to the quinone pool.

A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene.

Mutations within the mitochondrially encoded cytochrome b (MTCYB) gene are heteroplasmic and lead to severe exercise intolerance. We describe an unusual clinical presentation secondary to a novel homoplasmic mutation within MTCYB. The m.

Effects of age, malnutrition and refeeding on the expression and secretion of ghrelin.

Background & Aims: Anorexia is frequent in the malnourished elderly. We studied the effects of age, nutritional status and refeeding on the expression and secretion of the orexigenic peptide ghrelin.

Methods: Four groups were prospectively enrolled: 11 undernourished elderly (80+/-6 y, BMI: 17.

[Chronic TVT infection: mechanisms and consequences].

Despite the simplicity and efficacy of TVT, this technique, like all surgical treatments, is nevertheless associated with sometimes very serious complications. The authors report a case of chronic infection of a polypropylene implant presenting with cutaneous fistula of a retropubic abscess without an associated septic syndrome, ten months after TVT insertion. The TVT was removed by mini-laparotomy after failure of three weeks of adapted antibiotics and local wound care.