La Formation de Jupille, nouvelle formation dans le Dévonien inférieur de la Haute-Ardenne (Belgique)

The Jupille Formation, new formation in the lower Devonian of the High-Ardenne (Belgium). A new formation named Jupille is proposed to better characterize in the High-Ardenne area the rocks interbedded between the La Roche (or Villé if La Roche is missing) and Pèrnelle Formations, at the transition between the Pragian/Emsian stages (Lower Devonian). This formation is made up of series of grey, blue grey or greenish grey sandstone layers interbedded in blue grey siltstones and slates similar to those of the La Roche Formation. Locally, the sandstones grades to quartzites. Tool marks, current ripples, lenticular and oblique or hummocky cross-stratifications and load casts (pseudonodules) are present in the sandstone layers

Maladies héréditaires du métabolisme et apports de la métabolomique

Les maladies héréditaires du métabolisme ou erreurs innées du métabolisme sont des maladies rares, mais très diverses, puisqu’on estime leur nombre à 500. Ce chiffre explique les difficultés rencontrées dans les diagnostics et les traitements. Ces maladies sont dues à des mutations de gènes codant pour des protéines impliquées dans les voies métaboliques. Les maladies héréditaires du métabolisme les plus fréquentes sont dues à l’accumulation de certains intermédiaires ou métabolites, ou correspondent à des déficits énergétiques, par exemple les déficits de la chaîne respiratoire, de l’oxydation des acides gras ou du métabolisme glucidique, ou encore à des perturbations du métabolisme de molécules complexes. Les biochimistes apportent une aide souvent essentielle au diagnostic et au suivi du traitement nutritionnel ou médicamenteux. Les diagnostics biochimiques reposent principalement sur des dosages de métabolites et des mesures d’activités enzymatiques, plus rarement sur la recherche de mutations. Une meilleure prise en charge des patients concernés impose une amélioration du dépistage néonatal et l’accroissement de l’efficacité de laboratoires de biochimie spécialisée. C’est pour cela que se développe la métabolomique, qui regroupe l’ensemble des approches technologiques permettant de doser un très grand nombre de métabolites. Parmi ces approches, la spectrométrie de masse en tandem constitue une méthode de choix.Both hope and illusion, the recent progress in biology has raised our expectations that one day it will be possible to introduce a biological sample into an apparatus which will then deliver in a few minutes thousands of qualitative and quantitative data concerning the genome, transcriptome, proteome and metabolome, thereby contributing to diagnosis and follow-up of diseases which are now difficult to identify. Such machines do not exist yet and, in any case, should be associated with the appropriate and adequate clinical work on the disease and with the patient. This « total » approach is of course being pushed by the recent decoding of the genomes of several species (genomics), the development of high throughput analysis of mRNAs (transcriptomics), and the efforts to identify the protein products on a large scale (proteomics). Wide sectors of medicine are waiting for the results of these new medium and high throughput technological approaches, for example, in order to identify early markers of diseases. The object of this article is to present a biochemist’s point of view on hereditary metabolic diseases (also referred to as inborn errors of metabolism), a field of medicine and research covering very diverse clinical and biochemical aspects. Significant advances will be made possible by improving the present methods of analysis of the metabolome which establishes a link between genotypes and phenotypes, an area now called metabolomics. The contribution of proteomics will be important as well but will still require some time

Compte-rendu de l'ouvrage de Fr. Jacques, Aux origines du diocèse de Namur, 1988

peer reviewe

Caso problema: retardo mental como secuela de enfermedad neurometabólica

Los errores innatos del metabolismo representan un grupo paradigmático en el contexto de las enfermedades poco conocidas, aunque son más de 500 perfectamente definidas. Gracias a los avances de la biología molecular y la bioquímica, muchas de estas enfermedades no caracterizadas se han ido adicionando al grupo de errores innatos del metabolismo. El conocimiento de las bases moleculares de estas patologías, ha mejorado las posibilidades de diagnóstico prenatal y neonatal en la población a riesgo, lo que permite la posibilidad de implementar programas de manejo preventivo, así como, la aplicación del tratamiento y un consejo genético precoz. Se reporta el caso de un adolescente de 17 años con retardo mental y epilepsia mioclónica progresiva degenerativa, con hallazgos en neuroimágenes de enfermedad de sustancia blanca asociado a alteraciones metabólicas, lo cual es compatible con una impresión diagnóstica de Aciduria Glutárica tipo 1; lo cual es sustentado en el paciente, por la favorable respuesta terapéutica. Además del presente reporte, se busca analizar a través de una revisión de la literatura, el enfoque diagnóstico y terapéutico que permite considerar los errores innatos del metabolismo, como aquellas patologías cada vez más comunes en la práctica médica, que precisan de un manejo multidisciplinario. (MÉD.UIS. 2014;27(1):69-74)Inborn errors of metabolism represent a paradigmatic group in the context of little known diseases, although more than 500 well-defined. Thanks to advances in molecular biology and biochemistry, many of these diseases have been characterized not adding to the group of inborn errors of metabolism. Knowledge of the molecular basis of these diseases, enhanced the possibilities of prenatal diagnosis and neonatal risk in the population, allowing the possibility of implementing preventive management programs, as well as the implementation of early treatment and genetic counseling. The case of a 17 -year mental retardation and myoclonic epilepsy progressive degenerative with findings in neuroimaging disease white matter associated with metabolic abnormalities are reported, which is consistent with a picture of glutaric aciduria type 1, this diagnosis is supported in the patient, by the favorable therapeutic response. In addition to this report, seeks to analyze through a review of literature, the diagnostic and therapeutic approach that allows considering the inborn errors of metabolism, such as those increasingly common diseases in medical practice, which require a multidisciplinary approach. (MÉD.UIS. 2014;27(1):69-74

The role of pharmacotherapy, rehabilitation and nutrition in the treatment of children with West syndrome

West syndrome is classified as an epileptic encephalopathy. This syndrome is diagnosed in children aged 4-6 months. Its unsuccessful prognosis and complicated aetiology affects the delay of psychomotor development and cognitive functions of children. Repeated attacks inhibit the realization of next tasks assigned to the children’s age. Properly conducted treatment of West syndrome should be interdisciplinary and include pharmacological treatment, diet and rehabilitation. Pharmacological treatment of West syndrome includes: the ACTH hormone, corticosteroids (prednisolone), vigabatrin, valproic acid, nitrazepam, pyridoxine, zonisamide, topiramide. The therapy includes also a ketogenic diet which assumes changes in the proportion of nutrients. Predominant ingredient in the diet are fats (80-90% of daily intake of nutrients). Further, children with West syndrome require neuropsychological and motor rehabilitation (Vojta therapy, NDT- Bobath therapy). Cooperation of therapeutic experts with parents of the children makes it possible to achieve therapeutic benefits through improvement of the children's quality of life. Mental disability and cognitive impairment associated with the syndrome result in the loss of skills already acquired by children, therefore motivation and support of the children's parents is a significant task assigned to therapeutic team members

On the trail of the wolf in Wallonia in the Belgian press (1821-1914)

peer reviewedS’il est unanimement reconnu que le loup disparaît totalement du paysage ardennais au début du 20e siècle, en revanche, l’évolution de sa population tout au long du 19e siècle reste encore méconnue. En l’absence de sources d’informations scientifiques pour cette période, ce ne sont souvent que des anecdotes locales qui rapportent quelques faits marquants, difficilement vérifiables, comme les revendications de la destruction du « dernier loup » aux quatre coins du pays. Pour tenter d’étoffer la documentation sur le sujet, nous avons entrepris d’explorer la presse belge du 19e siècle pour y répertorier et analyser les articles traitant de faits impliquant le loup. L’intention est d’apporter des éclaircissements sur la distribution géographique de sa population, son évolution, ses effectifs, ses comportements, son image auprès des populations, et sur les circonstances qui ont conduit à sa disparition.Although it is unanimously recognised that the wolf disappeared completely from the Ardenne landscape at the beginning of the 20th century, the evolution of its population throughout the 19th century remains unknown. In the absence of scientific sources of information for this period, it is often only local anecdotes that report a few significant events, which are difficult to verify, such as the claims of the destruction of the "last wolf" in the four corners of the country. To improve the documentation on the subject, we have undertaken an exploration of the Belgian press of the 19th century in order to compile and analyse the articles dealing with incidents involving the wolf. The intention is to shed light on the geographical distribution of its population, its evolution, its numbers, its behaviour, its image in the eyes of the public, and on the circumstances that led to its disappearance

In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency.

Contains fulltext : 88083.pdf (publisher's version ) (Closed access)Adenylosuccinate lyase (ADSL) deficiency is an inherited metabolic disorder affecting predominantly the central nervous system. The disease is characterized by the accumulation of succinylaminoimidazolecarboxamide riboside and succinyladenosine (S-Ado) in tissue and body fluids. Three children presented with muscular hypotonia, psychomotor delay, behavioral abnormalities, and white matter changes on brain MRI. Two of them were affected by seizures. Screening for inborn errors of metabolism including in vitro high resolution proton MRS revealed an ADSL deficiency that was confirmed genetically in all cases. All patients were studied by in vivo proton MRS. In vitro high resolution proton MRS of patient cerebrospinal fluid showed singlet resonances at 8.27 and 8.29 ppm that correspond to accumulated S-Ado. In vivo proton MRS measurements also revealed a prominent signal at 8.3 ppm in gray and white matter brain regions of all patients. The resonance was undetectable in healthy human brain. In vivo proton MRS provides a conclusive finding in ADSL deficiency and represents a reliable noninvasive diagnostic tool for this neurometabolic disorder.1 juni 201