[Bilateral nephrocalcinosis: primary hyperoxaluria involved]. / Néphrocalcinose bilatérale : l'hyperoxalurie primitive en cause.

Primary hyperoxaluria type 1 is a rare autosomal recessive disorder leading to oxalate overproduction by deficiency in the liver-specific enzyme alanine-glyoxylate transaminase (AGT). Oxalate is a poorly soluble molecule that binds calcium and deposits in the entire organism leading to oxalosis. Its elimination is mainly carried out by kidneys. Hence the first manifestations are frequently of urinary concern and whitout any early care, progression of the disease to end-stage renal failure cannot be avoided. The only etiological treatment has long been combined liver-kidney transplantation because it restaures enzymatic function and replaces pathological kidneys. However, for a few years now, numerous studies are carried out on this subject and promising results have already been published with a new drug, lumasiran. From a clinical case, we describe the different options for the therapeutic management of primary hyperoxaluria type 1.

L'hyperoxalurie primitive de type 1 (HP1) est une maladie autosomale récessive rare entraînant une hyperproduction d'oxalate par déficit d'une enzyme hépatique : l'alanine-glyoxylate aminotransférase. L'oxalate est une petite molécule peu soluble qui se lie au calcium et forme des dépôts d'oxalate calcique dans l'ensemble de l'organisme : c'est l'oxalose. Son élimination est principalement rénale. Dès lors, les premières manifestations sont souvent d'ordre urinaire et, en l'absence de traitement précoce, la maladie évolue inévitablement vers l'insuffisance rénale terminale. Le seul traitement étiologique a longtemps été la transplantation combinée hépatique et rénale qui restaure une activité enzymatique et remplace les reins défaillants. Cependant, depuis quelques années, de nombreuses recherches sont réalisées à ce sujet et des résultats prometteurs ont déjà vu le jour avec le lumasiran. à partir d'un cas clinique, nous décrivons les différentes options de la prise en charge thérapeutique de l'HP1.

Distribution of SV2C mRNA and protein expression in the mouse brain with a particular emphasis on the basal ganglia system.

Synaptic vesicle 2 proteins (SV2), SV2A, SV2B and SV2C, are integral proteins localized on the surface of synaptic vesicles in all neurons. SV2 proteins appear to play an important, but not yet fully understood role in synaptic vesicle exocytosis and neurotransmitter release. Moreover, SV2 seems to be the receptor of the botulinum neurotoxin A. In the present study, using single and double-labeling fluorescent immunohistochemistry and in situ hybridization we have identified the brain pattern of SV2C mRNA and protein expression in mice. Our results indicated that SV2C protein was expressed in a small subset of brain regions including the olfactory bulb, olfactory tubercle, nucleus accumbens, caudate-putamen, ventral pallidum, globus pallidus, substantia nigra and the ventral tegmental area. These results were confirmed by means of in situ hybridization, except for the globus pallidus and the substantia nigra pars reticulata, in which no labeling was found, suggesting that SV2C-positive fibers in these areas are terminals of striatal projecting neurons. In the striatum, we found that, in addition to its presence in the projection neurons, SV2C was densely expressed in a fraction (around 45%) of cholinergic interneurons. In addition, our data also showed that SV2C was densely expressed in most dopaminergic neurons in the substantia nigra pars compacta and the ventral tegmental area (more than 70% of the dopaminergic neurons analyzed were SV2C-positive). Altogether, our results suggest that SV2C may contribute to the regulation of neurotransmitter release and synaptic transmission in the basal ganglia including cholinergic striatal interneurons and nigro-striatal/mesolimbic dopamine neurons.

Phylogenetic relationships within the Mysidae (Crustacea, Peracarida, Mysida) based on nuclear 18S ribosomal RNA sequences.

Species of the order Mysida (Crustacea, Peracarida) are shrimp-like animals that occur in vast numbers in coastal regions of the world. The order Mysida comprises 1,053 species and 165 genera. The present study covers 25 species of the well-defined Mysidae, the most speciose family within the order Mysida. 18S rRNA sequence analysis confirms that the subfamily Siriellinae is monophyletic. On the other hand the subfamily Gastrosaccinae is paraphyletic and the subfamily Mysinae, represented in this study by the tribes Mysini and Leptomysini, consistently resolves into three independent clades, and hence is clearly not monophyletic. The tribe Mysini is not monophyletic either, and forms two clades of which one appears to be closely related to the Leptomysini. Our results are concordant with a number of morphological differences urging a taxonomic revision of the Mysidae.

Integrating images into a central medical information system.

Of the information items that must be easily available to the different actors involved in the care process, radiological images are not the least important. While until recently it was not feasible to include these into the medical information system, this situation has changed. Still, emphasis in PACS (Picture Archiving and Communication Systems) is primarily on the technological aspects. In this paper, in contrast, we stress the importance of integration of images into the overall workflow and into the overall medical record. We do so using illustrations from the PACS project of the University Hospitals Leuven. We briefly indicate that tight integration at the user interface level is needed, and that this requires more than standardized communication between subsystems.

The assessment of dose and image quality of storage phosphor systems: an overview of the different tasks.

The assessment of the dose-image quality relation using storage phosphor systems requires a series of tasks. In the text, the main aspects are summarized and the differences with the measurements for X ray equipment using film-screen cassettes are indicated. Standards of testing are becoming available for quality control measurements of the equipment. The global analysis is, however, less standardised. Large scale trials concerning dose and image quality are missing. In particular, guidelines about the appropriate use of post processing parameters and image visualisation are scarce. In this regard, a newly proposed method to evaluate image quality as a function of post-processing parameters for particular types of clinical images is mentioned. It is concluded that a thorough analysis may be very time consuming, but if the properties of the digital detectors are exploited, many tasks can be automated.

Confrontation of mammography systems in flanders with the European Guidelines for Quality Assurance in mammography screening. Analysis of initial results.

From May 1997 to April 98, 30 radiological centers made an agreement with the Leuvens Universitair Centrum voor Kankerpreventie (LUCK) for the work out of physical and technical quality control in mammography screening. A protocol was used based on the European Guidelines for Quality Assurance. The reports of all 30 acceptance tests were retrospectively reviewed. The following parts showed to be most critical: alignment of radiation field and film in the bucky, tube voltage precision, automatic exposure controller, average optical density of a standard exposure, dark room and its safe lights. The mean film gradient was in the majority of the centers higher than what is prescribed in the European document. This is acceptable and even desirable whenever daily quality control shows that the development system is sufficiently stable. Although it is difficult to compare the scores for the specific tests with results in other countries, there is evidence that the tendencies are very similar.