Corcia P.,University of Tours |
Bensimon G.,University Pierre and Marie Curie |
Pieroni L.,Biochimie Metabolique
PLoS ONE | Year: 2012
Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder caused by the loss of motor neurons. Its etiology remains unknown, but several hypothesis have been raised to explain motor neuron death, including oxidative stress. Dysregulation of cellular iron metabolism can lead to increased oxidative stress, and existing data argue for a role of iron metabolism in ALS pathophysiology. Methods: We performed a retrospective analysis of iron metabolism (IM) variables (serum levels of iron, transferrin, ferritin, and TSC for Transferrin Saturation Coefficient) in a cohort of 694 ALS patients and 297 healthy controls. Results: Serum ferritin levels and TSC were higher, whereas serum transferrin levels were lower in ALS patients than controls. In addition, patients with a high level serum ferritin had a shorter survival time compared to those with low level serum ferritin (618 days versus 921 days for men subgroup; p =. 007). Site of onset and ALS-FRS score were not associated with IM variables. Conclusion: This study suggests that ALS patients may have increased iron storage, as measured by increased serum ferritin and TSC. Elevated serum ferritin may also have a deleterious impact on survival in ALS. © 2012 Nadjar et al.
Boutron A.,Hopitaux Universitaires Paris Sud |
Labarthe F.,Pediatrie metabolique |
Lamireau D.,Reanimation Pediatrique |
de Villemeur T.B.,Neuropediatrie |
And 3 more authors.
Molecular Genetics and Metabolism | Year: 2011
Background: Deficiency of mitochondrial trifunctional protein (MTP) is caused by mutations in the HADHA and HADHB genes, which have been mostly delineated at the genomic DNA level and have not been always elucidated. Aim: To identify mutations in a French cohort of 52 MTP deficient patients and the susceptibility of mutations generating premature termination codons (PTCs) to the nonsense mRNA mediated decay (NMD). Methods: Mutation screening in fibroblasts was performed at the cDNA level and real-time RT-PCR was used to compare the levels of the different PTC-bearing mRNAs before and after a treatment of fibroblasts by emetine, a translation inhibitor. Results: A mutation detection rate of 100% was achieved. A total of 22 novel mutations were identified, including a large-sized genomic deletion in HADHB gene. A high proportion of all identified mutations were non-sense, frameshift and splicing mutations, generating (PTCs), distributed essentially on HADHA coding regions. We could demonstrate that the majority of mutations resulting in PTCs conform to the established rules governing the susceptibility to NMD. Conclusion: Our results emphasize the value of cDNA analysis in the characterization of HADHA and HADHB mutations and further strengthen the model of haploinsufficiency as a major pathomechanism in MTP defects. © 2011 Elsevier Inc.
Tajir M.,Mohammed V University |
Tajir M.,Institute National dHygiene |
Boutron A.,Biochimie metabolique |
Elalaoui S.C.,Institute National dHygiene |
And 3 more authors.
European Journal of Medical Genetics | Year: 2012
Pyruvate dehydrogenase deficiency is one of the genetic defects of mitochondrial energy metabolism. Clinical features are heterogeneous, ranging from fatal lactic acidosis in the newborn period to chronic neurodegenerative abnormalities. Most cases have mutations in the gene for the E1alpha subunit of the pyruvate dehydrogenase complex. Primary defects of the E3 binding protein component of the pyruvate dehydrogenase complex are rarier. We describe two unrelated Moroccan patients with the same new mutation c.1182 + 2T > C in the E3 binding protein gene PDHX and different clinical forms. © 2012 Elsevier Masson SAS.
Evaluation of the methodological quality of the Rémic (microbiology guidelines - bacteriology and mycology) of the Société Française of Microbiologie [Évaluation de la qualité méthodologique du Rémic (référentiel en microbiologie médicale - bactériologie et mycologie)* de la Société Française de Microbiologie]
Augereau C.,Biochimie |
Couaillac J.-P.,Biologie |
de Mouy D.,Biologiste liberale |
Fonfrede M.,Biochimie Metabolique |
And 3 more authors.
Bio Tribune Magazine | Year: 2011
We have evaluated the methodological quality of the Rémic (microbiology guidelines - bacteriology and mycology) of the Société Française de Microbiologie 2007, using to AGREE criteria, which are consensual at an international level, in particular at the the WHO (World Health Organisation) and at the European Union. The methodological quality of the Rémic is sub-optimal. These shortcomings in quality are mainly observed in AGREE domain n° 5 (applicability), in AGREE item n° 5 (patients' opinions were not considered), and in AGREE item n° 23 (conflicts of interest were not declared). The users of the Rémic must be aware of these few methodological shortcomings in order for them to be careful before they put its recommendation in practice. In conclusion, we advise the editors of the Rémic to insert at least a methodological chapter in their next édition. © 2011 Springer Verlag France.
PubMed | Biologie polyvalente, Biochimie, Biochimie Metabolique and Directeur Medical
Type: Journal Article | Journal: EJIFCC | Year: 2016
Medical practice guidelines (GLs) being tools that are mainly designed to evaluate medical professionals, it sounds logical, and fair, that professionals should in turn evaluate GLs. Microbiology being a medical discipline, we used the AGREE instrument, i.e. an established evaluation tool for GLs, in order to evaluate the quality of two major microbiology guidelines, i.e. the SFM GLs and the ASM GLs). Both guidelines remain sub-optimal in their levels of quality, and obtain scores that are not very different from the average scores obtained by many other guidelines in various medical disciplines. We therefore believe that both guidelines need to be modified before they can be recommended without provisos. A higher degree of multi-disciplinary work, including a more formal implication of methodologists, as well as of infectious disease clinicians, and of economists, might perhaps enable future editions of these guidelines to reach higher levels of quality.