New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiencies are rare fatal disorders of fatty acid ß-oxidation with no apparent genotype-phenotype correlation. The measurement of acylcarnitines by MS/MS is a current diagnostic workup in these disorders. Nevertheless, false-positive and false-negative results have been reported, highlighting a necessity for more sensitive and specific biomarkers. This study included 54 patients with LCHAD/MTP deficiency that has been confirmed by biochemical and molecular methods. The analysis of acylcarnitines in dried blood spots was performed using ESI-MS/MS. The established "HADHA ratio" = (C16OH + C18OH + C18:1OH)/C0 was significantly elevated in all 54 affected individuals in comparison to the control group. Apart from 54 LCHAD deficiency patients, the "HADHA ratio" was calculated in 19 patients with very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. As VLCAD-deficient patients did not show increased "HADHA ratio", the results emphasized the high specificity of this new ratio. Therefore, the "HADHA ratio" was shown to be instrumental in improving the overall performance of MS/MS-based analysis of acylcarnitine levels in the diagnostics of LCHAD/MTP deficiencies. The ratio was demonstrated to increase the sensitivity and specificity of this method and reduce the chances of false-negative results.

Impact of Appendectomy on Gut Microbiota.

Background: Considered vestigial from the classic point of view, the vermiform appendix has long been the subject of intensive studies. The recent understanding of appendix function in the context of unique architecture and bacterial complexity and density allows considering it as a safehouse for intestinal biodiversity. Methods: This review analyzes and assesses the current state of scientific knowledge regarding the role of the vermiform appendix in normal gut microbiota maintenance as a crucial factor of host homeostasis. It also highlights the difference in microbial composition between the large bowel and the appendix, as well as the association between the surgical excision, appendectomy, and dysbiosis-induced diseases. In addition, the review discusses the results of epidemiologic studies on appendectomy as a risk factor for the initiation of gastrointestinal carcinogenesis. It also highlights the association between appendectomy and a series of chronic inflammatory and neurologic disorders, including inflammatory bowel disease.