Deciphering the natural history of SCA7 in children.

BACKGROUND AND PURPOSE: Childhood-onset autosomal dominant cerebellar ataxia type 7 (SCA7) is a severe disease which leads to premature loss of ambulation and death. Early diagnosis of SCA7 is of major importance for genetic counselling and still relies on specific genetic testing, driven by clinical expertise. However, the precise phenotype and natural history of paediatric SCA7 has not yet been fully described. Our aims were to describe the natural history of SCA7 in a large multicentric series of children of all ages, and to find correlates to variables defining this natural history. METHODS: We collected and analysed clinical data from 28 children with proven SCA7. All had clinical manifestations of SCA7 and either a definite number of CAG repeats in ATXN7 or a long expansion > 100 CAG. RESULTS: We identified four clinical presentation patterns related to age at onset. Children of all age groups had cerebellar atrophy and retinal dystrophy. Our data, combined with those in the literature, suggest that definite ranges of CAG repeats determine paediatric SCA7 subtypes. The number of CAG repeats inversely correlated to all variables of the natural history. Age at gait ataxia onset correlated accurately to age at loss of walking ability and to age at death. CONCLUSION: SCA7 in children has four presentation patterns that are roughly correlated to the number of CAG repeats. Our depiction of the natural history of SCA7 in children may help in monitoring the effect of future therapeutic trials.

Responses of a free-living marine nematode community to mercury contamination: results from microcosm experiments.

A microcosm experiment was used to examine the effects of mercury contamination on a free-living nematode community in a Tunisian lagoon. Sediments were contaminated with three mercury concentrations (low, 0.084 ppm; medium, 0.167 ppm; and high, 0.334 ppm), and effects were examined after 60 days. Results from multiple-comparison tests showed significant differences between nematode assemblages from undisturbed control and those from mercury treatments. Most univariate measures decreased significantly with increasing level of Hg contamination. Results from multivariate analyses of the species abundance data demonstrated that responses of nematode species to mercury contamination were varied: Araeolaimus bioculatus was eliminated at all the mercury doses tested and seemed to be an intolerant species to mercury contamination; Marylynnia stekhoveni increased at low and medium concentrations and appeared to be an "opportunistic" species at these doses, whereas Prochromadorella neapolitana, which increased at all doses tested (0.084, 0.167, and 0.334 ppm), seemed to be a "mercury-resistant" species.

[The place of neuropathy in the early diagnosis of Cockayne syndrome: Report on two siblings]. / Place de la neuropathie dans le diagnostic précoce du syndrome de Cockayne : à propos de deux cas dans une fratrie.

Two siblings affected with Cockayne syndrome (CS) are described: this diagnosis was suggested by the finding of a demyelinating neuropathy on electromyography in both children and consistent clinical features. CS is a rare genetic disorder with severe prognosis and a highly varied phenotype, making early diagnosis difficult. Taking into account these two cases and the literature, the current diagnosis criteria are insufficiently specific and appear late: the diagnosis may be delayed because multi-organ involvement and sensorial impairment suggests more frequent neurometabolic disorders. Neuroradiologic abnormalities are suggestive but may occur later. The finding of a demyelinating peripheral neuropathy seems to be a more useful marker to suspect this disorder in the presence of other clinical features. Further studies are required to better define the chronology of the symptoms, not only for adequate genetic counseling and eventual prenatal diagnosis, but also to assess the efficacy of future therapies.

Effects of two lubricant oils on marine nematode assemblages in a laboratory microcosm experiment.

The effects of two lubricating oils on nematode assemblages of a Tunisian lagoon were investigated in a microcosm experiment. Sediment from a pristine site in Ghar El Melh lagoon (Western Mediterranean) was treated with either mineral oil (Mobil 20 W-50), a synthetic lubricant (Mobil 0 W-40), the same two lubricants after use in a vehicle, and effects were examined after 5 weeks. Univariate analysis showed significant differences between most univariate indices of the nematode assemblages in all the lubricant treatments as compared to the control. Total nematode abundance (I), species richness (d) and number of species (S) decreased significantly in all lubricant contaminated microcosms. However, evenness was not affected in all treated replicates except in used mineral lubricant treatment where it was significantly higher than in the control. Diversity (H') was only altered in synthetic lubricant treatments. Results from multivariate analyses of the species abundance data demonstrated that responses of nematode species to the two lubricants treatments were varied: Daptonema trabeculosum was eliminated in all lubricant treatments and seemed to be an intolerant species to oil contamination. Spirinia gerlachi increased in mineral lubricant treatments ("clean" and used) but was eliminated in all synthetic lubricant treatments. This species could be categorized as "resistant" to mineral oil contamination and intolerant to synthetic lubricant contamination. Terschellingia longicaudata increased only in synthetic lubricant treatments ("clean" and used) and appeared to be a "synthetic oil-resistant" species.

[A neonatal case of immunoallergic acute interstitial nephritis]. / Néphropathie interstitielle aiguë immunoallergique néonatale : à propos d'un cas.

Acute interstitial nephritis accounts for about 10 % of the cases of acute renal failure. An adverse drug reaction caused by an immunoallergic mechanism is suggested when fever, skin rash, eosinophilia, and eosinophiluria are associated. The outcome is favorable after withdrawal of drug therapy in most cases. We report a case of acute interstitial nephritis induced by immunoallergic drug mechanisms, in a 3-week-old infant who presented with acute renal failure associated with eosinophilia and hepatitis and who had received cefotaxime and gentamicin. The patient's progression was favorable with normalization of renal and liver function 1 week after suspension of antibiotic drugs.

Individual and combined effects of cadmium and diesel on a nematode community in a laboratory microcosm experiment.

A microcosm experiment was carried out to study the influence of cadmium and diesel, individually and in a mixture, on a free living nematode community of a Tunisian lagoon. Sediments were contaminated with cadmium that ranged in concentration from 0.54 to 1.40 mg Cd kg(-1) (dry weight (dw)), by diesel at 0.25 mg kg(-1) (dw), by a cadmium-diesel mixture (Cd at 1.40 mg kg(-1)+Diesel at 0.25 mg kg(-1)) and effects were examined after 90 days. Univariate analysis showed that all univariate indices did not change significantly neither at all the levels of cadmium contamination nor at 0.25 mg kg(-1) (dw) diesel concentration. But, at the cadmium-diesel mixture, significant differences were recorded between nematode assemblages from uncontaminated sediment control microcosm and those from cadmium-diesel mixture amended sediment treatments. Total nematode abundance (I), mean individual weight (bi), Shannon-Weaver index H', species richness (d), evenness (J') and number of species (S) decreased significantly in microcosms contaminated with both cadmium and diesel. Results from multivariate analyses of the species abundance data demonstrated that responses of nematode species to the cadmium-diesel treatments were varied: Marylynnia stekhoveni, Calomicrolaimus honestus and Oncholaimellus mediterraneus were significantly affected at the cadmium-diesel contamination but they were not eliminated. These species could be categorized as "cadmium-diesel sensitive". Enoploides sp. and Oncholaimus campylocercoides, characterized by increased abundances in cadmium-diesel amended sediment, seemed to be "cadmium-diesel resistant" species. All these species, "cadmium-diesel sensitive" or "cadmium-diesel resistant", were not affected by either cadmium or diesel alone.