Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease.

Mitochondrial disease (MD) is a group of rare inherited disorders with clinical heterogeneous phenotypes. Recent advances in next-generation sequencing (NGS) allow for rapid genetic diagnostics in patients who experience MD, resulting in significant strides in determining its etiology. This, however, has not been the case in many patient populations.

The dilemma of diagnosing coenzyme Q deficiency in muscle.

Background: Coenzyme Q (CoQ) is an important component of the mitochondrial respiratory chain (RC) and is critical for energy production. Although the prevalence of CoQ deficiency is still unknown, the general consensus is that the condition is under-diagnosed. The aim of this study was to retrospectively investigate CoQ deficiency in frozen muscle specimens in a cohort of ethnically diverse patients who received muscle biopsies for the investigation of a possible RC deficiency (RCD).

A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.

Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD type I) is an autosomal recessive disorder of the electron transfer flavoprotein function characterized by a severe clinical and biochemical phenotype, including congenital abnormalities with unresponsiveness to riboflavin treatment as distinguishing features. From a retrospective study, relying mainly on metabolic data, we have identified a novel mutation, c.1067G>A (p.

Plasma catecholamines and selective slow wave sleep deprivation.

The present study evaluated the effect of slow wave sleep (SWS) deprivation on plasma levels of catecholamines in healthy male volunteers. Eleven volunteers spent 4 nights in the sleep laboratory (2 nights of habituation and 2 further nights); during the latter, 1 night served as control, and in the other, SWS deprivation was performed. Blood was drawn at 30-min intervals.

Ionomeric cement implants in the middle ear of the baboon (Papio ursinus) as a primate model.

Faced with an inadequate supply of autogenous materials, the otologic surgeon may have to utilize various alloplastic materials to reconstruct bony middle ear structures. Allogenic materials have fallen into disfavor clinically because of the possible spread of infections. Implantation of the hybrid bone substitute ionomeric cement in viscous or hardened physical states into the middle ears of a primate animal model was undertaken in order to be able to approximate as closely as possible conditions found clinically.