Carpobrotus spp. patches as trap for litter: Evidence from a Mediterranean beach.

Dunal plants may affect the patterns of deposition of beach litter. In this study, we aimed at evaluating if Carpobrotus spp. patches may act as a litter trap in coastal dune systems. To do so, we counted the number of macrolitter occurring in both Carpobrotus and control (embryo dune vegetation) patches classifying each item into categories according to the Marine Strategy. Totally, we observed a significant difference between litter trapped in Carpobrotus (331 items, representing 62.4% of the total beach litter) and control (199, 37.6%). Plastic fragments were the most trapped items by both Carpobrotus (46.2%) and control patches (47.2%). We also calculated the item co-occurrence, obtaining a random aggregated 'litter community'. The main emerging output is that Carpobrotus patches act as filter in respect to different anthropogenic materials (overall plastics), suggesting that alien plant management actions may contribute to solve beach litter issues as well.

[Management of renal cell carcinoma associated with an extensive inferior vena cava tumor thrombus]. / Prise en charge d'un carcinome rénal associé à un thrombus tumoral cave étendu.

Each main kind of cancer has rather typical or atypical clinical presentations, depending upon several factors related to histopathology or staging. The diagnosis of renal cell carcinoma associated with an extensive inferior vena cava tumor thrombus usually implies prognostic, workup, and surgical management issues. The incidental discovery of this rare clinical entity presented as deep vein thrombosis is narrated, with some therapeutic elements, including an example of alternative surgical treatment. The importance of preoperative assessment - particularly local regarding operability, is emphasized as well.

Chaque grand type de cancer se présente via différents tableaux cliniques typiques et atypiques selon des facteurs anatomo-pathologiques ou encore liés au stade d'évolution. La découverte d'un thrombus tumoral cave étendu associé à un carcinome rénal pose d'emblée des difficultés à la fois pronostiques ainsi qu'au niveau de la mise au point, afin de déterminer les gestes chirurgicaux possibles. Un cas révélé par une thrombose veineuse profonde est rapporté avec des éléments thérapeutiques comprenant un exemple d'alternative chirurgicale, et l'importance du bilan-préopératoire, notamment locorégional, pour l'opérabilité, est soulignée.

Evaluation of brain apoptosis in a CADASIL postmortem case.

OBJECTIVE: To evaluate the role of apoptosis in the pathogenesis of brain lesions in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary microangiopathy leading to cognitive decline and dementia, caused by mutations in the NOTCH3 gene. MATERIALS AND METHODS: Detection of apoptotic nuclei in temporal lobe, brain stem, medulla oblongata, hippocampus and basal ganglia from one young CADASIL patient was performed by terminal deoxynucleotidyl transferase (TdT)-mediated dUTP nick end-labeling (TUNEL). RESULTS: Our results showed a great involvement of glial cells in apoptotic cell death in the majority of the brain regions examined; neuronal apoptosis was significantly present only in the brain stem region. CONCLUSIONS: We hypothesized that in the early stages of the disease neuronal involvement of apoptosis is limited to the cells of the brain stem, sparing the cortical area which is involved in neuronal apoptosis and cognitive decline later.

Acute vestibular syndrome in a patient with cerebral autosomal dominant leukoencephalopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary form of small vessel disease in which the pons may show lacunar infarcts and leukoaraiosis. Acute pure vestibular syndrome may be due to caudal pontine lesions and is probably underestimated. We describe a case of CADASIL with acute vestibular syndrome mimicking peripheral vestibulopathy, and evidence of focal infarction in the ponto-medullary junction at gadolinium-enhanced MRI including diffusion-weighted imaging, involving the area of the right vestibular nucleus and root entry zone of the ipsilateral vestibular nerve bundle. In CADASIL, both focal brainstem lesions and leukoaraiosis may parallel supratentorial white matter changes and may be related to poor outcome. Their actual extent should be evaluated in longitudinal studies that might predict clinical outcome and progression of disability.

Co-circulation of distinct genetic lineages of astroviruses in turkeys and guinea fowl.

Viruses belonging to the genus Astrovirus have been increasingly associated with enteritis in mammalian and avian species, including turkeys. More recently, astroviruses have also been detected in diseased guinea fowl. In turkeys, two genetically distinct types of astrovirus have been reported, namely turkey astrovirus 1 and 2 (TAstV1 and TAstV2). The prevalence and the pathogenesis of astrovirus infections in this species is currently unknown, with the exception of data generated in the USA. In the present report, we have demonstrated the co-circulation of distinct genetic lineages of astroviruses infecting turkeys and guinea fowl. The predominant lineage infecting turkeys is genetically related to the American TAstV2, but genetic variability within this lineage was demonstrated. Other isolates appeared to be either TastV1-related or unrelated to any other known isolate. Astroviruses infecting guinea fowl were more closely related to TAstV2, and interspecies transmissions between turkeys and guinea fowl is suggested as a possible mechanism by which these viruses may have evolved, based on the genetic data available. This investigation provides genetic and epidemiological information contributing to a better understanding of enteric viral infections in turkeys and guinea fowl.

A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies.

Short-chain-acyl-CoA-dehydrogenase (SCAD) deficiency is an inborn error of mitochondrial fatty acid metabolism caused by rare mutations as well as common susceptibility variations in the SCAD gene. We describe the case of a 23-year-old male patient who had growth and mental retardation, recurrent vomiting, fever and seizures since infancy. Urinary gas chromatography and (1)H-nuclear magnetic resonance showed elevated levels of ethylmalonic acid. Serum concentrations of acylcarnitine, especially butyrylcarnitine (C4), were abnormally high. A homozygous variant allele of the SCAD gene, 625G>A, was detected. The patient broadens the clinical phenotype of SCAD deficiency and underlines the difficulty of diagnosis. The limited number of patients described may be the result of underdiagnosis.

[Antenatal screening for congenital heart disease: a retrospective analysis of 20 years of experience]. / Dépistage anténatal des cardiopathies foetales: une étude rétrospective sur 20 ans.

BACKGROUND: Congenital heart disease is often severe and outcome remains uncertain. In some cases, early intervention at birth can improve the prognosis. Prenatal detection of congenital heart disease by ultrasound may improve outcome for foetuses with congenital heart disease but today, results are not convincing. The purpose of this review was to describe the detection of congenital heart disease in a non selected population. METHODS: A retrospective study was undertaken to evaluate the prenatal detection of congenital heart disease in our department from 1984 to 2003. RESULTS: Incidence of congenital heart disease was 4.9. Sensitivity of detection was 60%, specificity was 99.9%. Most cases were severe heart diseases. In 57 fetuses (40%), congenital heart disease was not detected. Thirty-seven fetuses (65%) presented minor disease; in 20 fetuses (35%), congenital heart disease was found to be severe. Effectiveness of detection of major congenital heart diseases has increased since 2000. CONCLUSION: Large-scale fetal heart screening is necessary for early detection of congenital heart disease and improved outcome.

Human fibroblasts undergo oxidative stress-induced apoptosis without internucleosomal DNA fragmentation.

In order to evaluate the reliability of fibroblasts as a cell model for studying apoptosis, we tested the response of normal human fibroblasts to the oxidative stress inducers H(2)O(2) and 2-deoxy-D-ribose (dRib). Our results showed that fibroblasts treated with dRib and H(2)O(2) are induced to undergo apoptosis as demonstrated by reduction in total cell number, chromatin condensation, phosphatidylserine (PS) exposure, activation of caspase-3 and 7, changes in mitochondrial membrane potential and increase in the number of terminal deoxynucleotidyl transferase-mediated dUTP nick end-labeling (TUNEL)-positive nuclei. However we only found a slight increase in the percentage of cells in the sub-G1 region evaluated by flow cytometry, and we did not observe DNA fragmentation by agarose gel electrophoresis. Early in apoptosis, DNA cleavage generates high molecular weight (HMW) fragments which can be detected by TUNEL assay; successively followed by a pronounced DNA brake down into low molecular weight (LMW) fragments, detected as a "DNA ladder" by conventional agarose gel electrophoresis and as an hypodiploid peak by propidium iodide (PI) flow cytometry assay. Our results thus suggest that only HMW fragmentation occurs in fibroblasts exposed to dRib or H(2)O(2) and the lack of internucleosomal DNA fragmentation may depend on the peculiar characteristics of human fibroblasts themselves, irrespective of the apoptotic stimulus used. The existence of distinct events leading to cell death in different cell types makes it necessary to use a combination of strategies and techniques to evaluate the occurrence of apoptosis.

Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage.

Progressive lung infiltration is a major cause of death in Niemann-Pick disease type A and B (NPA, NPB) and in the recently defined type C2. In type C1 (NPC1), the main manifestations are neurological. We report a patient with a classic, neurological, late infantile form of NPC1 disease, carrying the mutation P474L and the variant I642M in the NPC1 gene, who suffered recurrent respiratory manifestations. Bronchoalveolar lavage of a lung segment due to deteriorating respiratory condition revealed many foamy macrophages and was followed by an improvement in symptoms. Pneumopathy may therefore be considered a feature of NPC1 disease for which a partial bronchoalveolar lavage could be a useful treatment.

Cell response to oxidative stress induced apoptosis in patients with Leber's hereditary optic neuropathy.

OBJECTIVES: Leber's hereditary optic neuropathy (LHON) is a maternally inherited disease in which acute or subacute bilateral visual loss occurs preferentially in young men. Over 95% of LHON cases are associated with one of three mitochondrial DNA (mtDNA) point mutations, but only 50% of men and 10% of women who harbour a pathogenetic mtDNA mutation develop optic neuropathy. This incomplete penetrance and preference for men suggests that additional genetic (nuclear or mitochondrial) and/or environmental factors must modulate phenotype expression in LHON. A role for reactive oxygen species (ROS) in mitochondrial diseases, secondary to mtDNA mutations, or as a result of the direct effect of ROS cytotoxicity, has been implicated in many mitochondrial disorders, including LHON. The purpose of this study was to investigate the role of oxidative stress induced apoptosis in LHON. METHODS: The 2-deoxy-D-ribose induced apoptotic response of peripheral blood lymphocytes from six patients with LHON and six healthy subjects was investigated using light microscopy, flow cytometry, agarose gel electrophoresis, and the measurement of mitochondrial membrane potential. RESULTS: Cells of patients with LHON had a higher rate of apoptosis than those of controls and there was evidence of mitochondrial involvement in the activation of the apoptotic cascade. CONCLUSIONS: These differences in oxidative stress induced apoptosis are in line with the hypothesis that redox homeostasis could play a role in the expression of genetic mutations in different individuals and could represent a potential target in the development of new therapeutic strategies.

DNA end labelling (TUNEL) in a 3 year old girl with Leigh syndrome and prevalent cortical involvement.

Neuropathological study of a 3 1/2 year old girl with familial Leigh syndrome who also harboured a rare ATPase gene mutation disclosed extensive and unusual lesions in the cerebral cortex, despite a typical histological pattern. Early lesions in the periacqueductal grey matter of the brainstem, characterised by capillary congestion and initial regressive neuronal changes, were also observed, along with TUNEL reactive neuronal cells showing morphological signs typical of apoptosis in cortical areas with neuronal cell loss. The finding of lesions in atypical brain areas and for the first time, very early regressive neuronal phenomena, suggest that early changes in crucial brain areas may have been a cause of death. The abundance of TUNEL positive nuclei in cortical areas in the present case suggests that the apoptosis may be involved in the mechanism of neuronal death in Leigh syndrome.