Second case of hepatoblastoma in a young patient with Simpson-Golabi-Behmel syndrome

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth syndrome associated with multiple congenital anomalies caused by a mutant X-linked recessive trait. The authors report on a 14-month-old male patient affected by hepatoblastoma. As far as is known, this is the second patient reported with SGBS and hepatoblastoma. The observations emphasize that an increased risk of neoplasia in SGBS must be kept in mind, especially in young patients.     

The collagen superfamily: from the extracellular matrix to the cell membrane

The collagen superfamily is highly complex and shows a remarkable diversity in molecular and supramolecular organization, tissue distribution and function. However, all its members share a common structural feature, the presence of at least one triple-helical domain, which corresponds to a number of (Gly-X-Y)n repeats (X being frequently proline and Y hydroxyproline) in the amino acid sequence. Several sub-families have been determined according to sequence homologies and to similarities in the structural organization and supramolecular assembly. In the present review, we focus on the newly described fibrillar collagens, fibrillar-associated collagens with interrupted triple helix, membrane collagens and multiplexins. Recent advances in the characterization of proteins containing triple-helical domains but not referred to as collagens are also discussed.     

Effects of 0.2 T static magnetic field on human skin fibroblasts

Human skin fibroblasts were exposed to 0.2 T static magnetic field generated by a magnetic resonance tomograph. After 1h exposure, cell morphology was modified in association with a concomitant decrease in the expression of some sugar residues of glycoconjugates. Study of cell proliferation and mitogenic signal transduction showed a decrease of thymidine incorporation and of second messenger formation. However, cell viability, assessed by colony forming assay, was unaffected. These results demonstrate that the static magnetic field generated by routinely used magnetic resonance tomograph induces alterations on human skin fibroblasts.     

Estimating respiratory system compliance during mechanical ventilation using artificial neural networks

In this study we evaluated whether a technology based on artificial neural networks (ANN) could estimate the static compliance (C(RS)) of the respiratory system, even in the absence of an end-inspiratory pause, during continuous mechanical ventilation. A porcine model of acute lung injury was used to provide recordings of different respiratory mechanics conditions. Each recording consisted of 10 or more consecutive breaths in volume-controlled mechanical ventilation, followed by a breath having an end-inspiratory pause used to calculate C(RS) according to the interrupter technique (IT). The volume-pressure loop of the breath immediately preceding the one with pause was given to the ANN for the training, together with the C(RS) separately calculated by the IT. The prospective phase consisted of giving only the loops to the trained ANN and comparing the results yielded by it to the compliance separately calculated by the investigators. Determination of measurement agreement between ANN and IT methods showed an error of -0.67 +/- 1.52 mL/cm H(2)O (bias +/- SD). We could conclude that ANN, during volume-controlled mechanical ventilation, can extract C(RS) without needing to stop inspiratory flow. IMPLICATIONS: We studied the application of artificial neural networks (ANN) to the estimation of respiratory compliance during mechanical ventilation. The study was performed on an animal model of acute lung injury, testing the performance of ANN in both healthy and diseased conditions of the lung.     

Malignant retroperitoneal paraganglioma: case report and review of the literature

Paraganglioma is a rare neuroendocrine neoplasm observed in patients of all ages but it has not been characterized in children. The authors describe a retroperitoneal paraganglioma diagnosed by chance in an 11-year-old boy. Many aspects of retroperitoneal paraganglioma are still under investigation. The treatment of choice is radical resection. Surgery may be possible following chemotherapeutic debulking with cyclophosphamide, vincristine, and dacarbazine. 131I-MIBG radiotherapy has proved increasingly useful in reducing the pain associated with disseminated disease and also in facilitating surgical resection in cases that appear inoperable. Conventional radiotherapy is purely palliative and used to reduce the pain of bone metastases.     

Bioavailability and toxicity of pentachlorophenol in contaminated soil evaluated on coelomocytes of Eisenia andrei (Annelida: Lumbricidae).

Pentachlorophenol (PCP) is widely distributed and highly persistent in soil, and represents a threat to the health of ecosystems. The present study aimed to assess the toxicity and bioavailability of PCP in soils as a function of different aging periods with the attempt to select a good toxicological assay for Eisenia andrei Bouché (Annelida: Lumbricidae). The experiments were performed on soil contaminated with PCP at 15 and 150ppm. After different aging periods (20, 60 and 120 days from spiking), bioavailability and toxicity were evaluated on E. andrei kept for 7 and 14 days in treated soils. The actual bioavailability decreased in relation to the aging for both PCP concentrations. No membrane damage was observed on coelomocytes collected by ethanol extrusion. Modifications in distribution of coelomocyte subpopulations were detected by flow cytometry on samples aged for 60 and 120 days at 150ppm PCP contamination. The reduction of lysosomal membrane stability, measured by neutral red retention time, was observed in all treatments. Worm mortality increased with aging in soils spiked with 150ppm of PCP. In conclusion, aging did not seem to reduce PCP cytotoxicity. This is the first report on in vivo toxicity of PCP evaluated on coelomocytes of E. andrei using different assays.     

Treatment with angiotensin-converting enzyme inhibitors is associated with a reduction in short-term mortality in older patients with acute ischemic stroke

BACKGROUND: Stroke is the third cause of death in older people living in Western countries. We tested the hypothesis that angiotensin-converting enzyme inhibitors (A-I) might affect short-term (30 day) mortality in older persons with severe acute ischemic stroke. METHODS: We analyzed data from a retrospective study including 475 consecutive older patients hospitalized for acute ischemic stroke. Mean age was 78.4 +/- 9.2 years; 58.2% were female. Stroke type was classified according to the Oxford Community Stroke Project (OCSP). RESULTS: Mortality rate was 28%. Thirty-two percent of patients were treated with A-I; mortality was 16.5% in patients treated compared with 33.3% in those not treated (chi(2) p =.001). The odds ratio for mortality in treated patients was: 0.47 (0.25-0.89) after full adjustment (age, sex, mean diastolic and systolic blood pressure, previous stroke and/or transient ischemic attack, congestive heart failure, atrial fibrillation, diabetes, hypertension, coronary heart disease, and previous treatment with A-I); 0.29 (0.09-0.89) in patients with altered level of consciousness after full adjustment; 0.60 (0.33-1.12) after adjustment for OCSP classification, age, and sex; and 0.30 (0.08-0.97) in total anterior circulation infarction stroke type after full adjustment. CONCLUSIONS: Our data suggest that treatment with A-I might reduce short-term mortality in older patients with acute ischemic stroke. Randomized clinical trials should confirm this possible specific effect of A-I.     

Brain effects of chronic IBD in areas abnormal in autism and treatment by single neuropeptides secretin and oxytocin

Recent research points to the connection between behavioral and gut disorders. Early adverse events are associated with inflammatory bowel disease (IBD). In animal models, maternal deprivation and social isolation predispose to gastric erosion and brain pathology. This study examined (1) brain effects of chronic gastrointestinal inflammation in a rat model of acquired IBD and (2) whether such changes are resolved by individual secretin (S) or oxytocin (OT) peptide treatment. Neurological manifestations of IBD were mapped by c-fos gene expression in male Sprague-Dawley rats (n=10) with trinitrobenzene sulfonic acid (TNBS)-induced IBD vs controls (n=11). IBD was characterized by moderate/severe infiltration of inflammatory cells 10 d after TNBS infusion. Age-matched pairs were processed for immunocytochemical detection of Fos, expressed when neurons are stimulated. S or OT (100 μg/250 μL saline) or equivolume saline was administered iv by Alzet pump for 20 d after disease onset. Degree of resolution of colitis-induced brain activation was assessed by c-fos expression, and mean numbers of Fos-immunoreactive nuclei for each group were compared using Independent Samples T-test. Chronic IBD activated periventricular gray, hypothalamic/visceral thalamic stress axes and cortical domains, and septal/preoptic/amygdala, brain areas abnormal in autism. Single peptide treatment with S or OT did not alter the effects of inflammation on the brain. Brain areas concomitantly activated by visceral inflammation are those often abnormal in autism, suggesting that IBD could be a model for testing treatments of autism. Other single and combined peptide treatments of IBD should be tested. The clinical implications for treating autism, IBD, and concomitant sickness behaviors with peptide therapy, with or without maternal nurturing as a natural equivalent, are presented.