Diamond-Blackfan anemia (DBA) is a constitutional disease characterized by a specific maturation defect in cells of erythroid lineage. We have assembled a registry of 229 DBA patients, which includes 151 patients from France, 70 from Germany, and eight from other countries. Presence of malformations was significantly and independently associated with familial history of DBA, short stature at presentation (before any steroid therapy), and absence of hypotrophy at birth. Two hundred twenty-two patients were available for long-term follow-up analysis (median, 111.5 mo). Of these individuals, 62.6% initially responded to steroid therapy. Initial steroid responsiveness was found significantly and independently associated with older age at presentation, familial history of DBA, and a normal platelet count at the time of diagnosis. Severe evolution of the disease (transfusion dependence or death) was significantly and independently associated with a younger age at presentation and with a history of premature birth. In contrast, patients with a familial history of the disease experienced a better outcome. Outcome analysis revealed the benefit of reassessing steroid responsiveness during the course of the disease for initially nonresponsive patients. Bone marrow transplantation was successful in 11/13 cases; HLA typing of probands and siblings should be performed early if patients are transfusion dependent, and cord blood should be preserved. Incidence of DBA (assessed for France over a 13-y period) is 7.3 cases per million live births without effect of seasonality on incidence of the disease or on malformative status. Similarly, no parental imprinting effect or anticipation phenomenon could be documented in families with dominant inheritance.

Spatial distribution of macrozooplankton was studied during spring in Lake of Geneva to evaluate the influence of abiotic (water temperature and stability, nutrients) and biotic (bacteria, chlorophyll a, fish biomass) factors on macrozooplankton distribution. Mapping and spatial analyses revealed that abiotic factors, as well as crustacean abundances, were structured along a gradient in the great lake basin. Chlorophyll a biomass, bacteria density, cyclopoid abundance, and fish biomass showed more patchy or inshore-offshore distribution patterns. Using canonical analyses, we determined the relative contribution of the spatial and environmental factors to the distribution of macrozooplankton species and of trophic groups based on herbivory and omnivory/carnivory. The distribution of macrozooplankton can be explained by small-scale variations and lake gradients in abiotic and biotic factors, with a dominant contribution of the abiotic factors. Water temperature and stability, as well as ammonium, are the main factors related to macrozooplankton distribution in Lake of Geneva during spring. Chlorophyll a biomass was also related to the distribution of cyclopoids. The canonical models explained 35-72% of the variance in the distribution of total crustaceans, species, and trophic groups. However, 28-65% of the macrozooplankton variance remained unexplained, which may be due to fine-scale variations in other environmental factors.Résumé : La distribution spatiale du macrozooplancton dans le Lac Léman (ou Lac de Genève) a été étudiée au printemps pour déterminer l'influence des facteurs abiotiques (température et stabilité de la colonne d'eau, nutriments) et biotiques (bactéries, chlorophylle a, biomasse des poissons) sur la distribution du macrozooplancton. La cartographie et l'analyse spatiale ont révélé que les facteurs abiotiques, ainsi que l'abondance des crustacés, étaient structurés selon un gradient dans le grand lac. La biomasse en chlorophylle a, la densité des bactéries, l'abondance des cyclopoïdes et les biomasses de poissons présentaient des patrons de distribution plus agrégés ou des gradients rive-large. À l'aide d'analyses canoniques, nous avons évalué l'influence relative des facteurs environnementaux et des structures spatiales dans la distribution des espèces de macrozooplancton et des groupes trophiques basés sur les catégories d'herbivores et d'omnivores/carnivores. La distribution du macrozooplancton s'explique à la fois par les variations locales à petite échelle et les gradients à grande échelle des facteurs abiotiques et biotiques, avec une contribution plus importante des facteurs abiotiques. La température et la stabilité de la masse d'eau ainsi que les concentrations en ammoniaque sont les principaux facteurs reliés à la distribution spatiale du macrozooplancton dans le grand basin du Lac de Genève. La biomasse en chlorophylle a est aussi reliée à la répartition des cyclopoïdes. Les modèles canoniques expliquent 35 à 72% de la variabilité dans la distribution des crustacés totaux, des espèces...