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Background: Extracellular matrix molecular components, previously linked to multisystem syndromes include collagens, fibrillins and laminins. Recently, we described a novel multisystem syndrome caused by the c.9418G>A p.(V3140M) mutation in the laminin alpha-5 (LAMA5) gene, which affects connective tissues of all organs and apparatus in a three generation family. In the same family, we have also reported a myopic trait, which, however, was linked to the Prolyl 4-hydroxylase subunit alpha-2 (P4HA2) gene. Results of investigation on vitreous changes and their pathogenesis are reported in the present study.Materials and Methods: Nineteen family individuals underwent complete ophthalmic examination including best-corrected visual acuity (BCVA), fundus examination, fundus photography, intraocular pressure measurement, axial length measurement using ocular biometry, Goldmann visual field examination, standard electroretinogram, SD-OCT. Segregation analysis of LAMA5 and P4HA2 mutations was performed in enrolled members.Results: The vitreous alterations fully segregated with LAMA5 mutation in both young and adult family members. Slight reduction of retinal thickness and peripheral retinal degeneration in only two patients were reported.Conclusions: In this work we showed that PVD is a common trait of LAMA5 multisystem syndrome, therefore occurring as an age-unrelated trait. We hypothesize that the p.(V3140M) mutation results in a reduction of retinal inner limiting membrane (ILM) stability, leading to a derangement in the macromolecular structure of the vitreous gel, and PVD. Further investigations will be necessary to elucidate the role of wild type and mutated LAMA5 in the pathogenesis of PVD.  相似文献   
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Even if the relationships between nutrition and inflammatory bowel disease (IBD) remain underexplored, the current literature is providing, day by day, much more evidence on the effects of various diets in both prevention and treatment of such illnesses. Wrong dietary habits, together with other environmental factors such as pollution, breastfeeding, smoke, and/or antibiotics, are among the theoretical pathogenetic causes of IBD, whose multifactorial aetiology has been already confirmed. While some of these risk factors are potentially reversible, some others cannot be avoided, and efficient treatments become necessary to prevent IBD spread or recurrence. Furthermore, the drugs currently available for treatment of such disease provide low-to-no effect against the symptoms, making the illnesses still strongly disabling. Whether nutrition and specific diets will prove to effectively interrupt the course of IBD has still to be clarified and, in this sense, further research concerning the applications of such dietary interventions is still needed.  相似文献   
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OBJECTIVE: The aim of the current study was to test the impact of dentin powder on the antimicrobial efficacy of bioactive glass S53P4 (BAG). STUDY DESIGN: BAG was suspended (preincubated) in saline at 37 degrees C for different time periods with or without human dentin powder, hydroxylapatite, or decalcified dentin. Subsequently, Enterococcus faecalis ATCC 29212 cells were added to these suspensions and bacterial recovery measured with and without the use of gentle sonication. Furthermore, survival of bacteria in test and control suspensions was assessed over time. Supernatants of suspensions were analyzed for their element contents using atomic absorption spectrophotometry. The effects of pH, silica, and osmolarity on E faecalis viability were assessed using specifically prepared solutions. RESULTS: BAG preincubated with dentin powder caused a significant (P < .05) decrease in viability compared to pure BAG suspensions. This was not based on adherence of bacteria to solid particles or agglutination of the cells, because sonication did not increase bacterial yields. Hydroxylapatite and decalcified dentin did not increase BAG killing efficacy. The additive effect of BAG + dentin powder was dose dependent, occurred only with solids in suspension, and increased with suspension time. An augmented dissolution of glass components, especially silicon, was measured in BAG + dentin powder compared to pure BAG suspensions or counterparts containing hydroxylapatite or decalcified dentin. High osmolarity per se did not affect E faecalis viability, whereas high pH and silica levels did. CONCLUSION: The observed phenomenon was related to an increased BAG dissolution triggered by dentin powder, causing elevated local pH and silica levels.  相似文献   
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Antibody-mediated rejection (AMR) frequently causes refractory graft dysfunction. This randomized controlled trial was designed to evaluate whether immunoadsorption (IA) is effective in the treatment of severe C4d-positive AMR. Ten out of 756 kidney allograft recipients were included. Patients were randomly assigned to IA with protein A (N = 5) or no such treatment (N = 5) with the option of IA rescue after 3 weeks. Enrolled recipients were subjected to tacrolimus conversion and, if indicated, 'anti-cellular' treatment. All IA-treated patients responded to treatment. One death unrelated to IA occurred after successful reversal of rejection. Four control subjects remained dialysis-dependent. With the exception of one patient who developed graft necrosis, non-responders were subjected to rescue IA, however, without success. Because of a high graft loss rate in the control group the study was terminated after a first interim analysis. Even though limited by small patient numbers, this trial suggests efficiency of IA in reversing severe AMR.  相似文献   
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Cultured brain cells from rat fetuses of ethanol-treated mothers demonstrated more than 2-fold elevations in choline acetyltransferase (ChAT) activity relative to those of control (saline-exposed) fetal brain cells. When cells from control animals were incubated in vitro for 5 days with 0.1% ethanol, ChAT activity was found to increase more than 4-fold. Brain cells from in utero ethanol-treated animals further exposed to ethanol in vitro for 5 days demonstrated significantly higher ChAT activity compared to cells exposed to ethanol only in vivo. These levels were more than 6 times greater than those of central nervous system cells never exposed to ethanol. Acetylcholinesterase (AChE) activity was significantly elevated (greater than 4-fold) in fetal brain cells when ethanol was present both in vivo and in vitro, but neither treatment alone resulted in any significant changes in AChE. These effects of ethanol on enzymes involved in acetylcholine metabolism may contribute to the different developmental neurologic abnormalities associated with fetal alcohol exposure.  相似文献   
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Summary. A survey of a representative sample of 5508 births in France in 1981 permitted the study of social characteristics of pregnant women, the medical care they received during their pregnancy and their pregnancy outcome, as a function of their marital status and whether or not they lived with the father of the child. Unmarried women living with the father (n = 412) like unmarried women living alone (n = 171), were more often younger, having their first baby and had a lower educational level than did married women living with the father (n = 4590). However, among the unmarried women, those living alone were in a more unfavourable position than those living with the father; in particular, they were more often less than 20 years old, had the minimum educational level required and were unemployed. Both groups of unmarried women had a higher preterm delivery rate than did married women, even after taking other risk factors into account in a logistic regression. The odds ratios (95% confidence interval) for pre-term delivery among unmarried mothers living without the father was 1.9 (1.0–3.4) and that for the unmarried cohabiting with the father was 1.6 (1.0–2.4). Thus, to fully appreciate the perinatal risks and medical needs during pregnancy, both the marital and cohabitational status of the women should be considered.  相似文献   
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