As some factors associated with the tropical environment can modify the expression of atopie disease, various indicators of allergic reactivity were compared between allergic and non-allergic subjects of different socio-economic level in Caracas, Venezuela (Lat. 10°N). The socio-economic levels considered were high (HSEL), medium-high (MSEL) or low (LSEL). As generally found in temperature climates, in the HSEL the total serum IgE levels of allergic patients were significantly greater than those of nonallergic individuals (geometric means of 274 vs 126 IU/ml, respectively), as were also the specific serum IgE antibody levels (55-6 vs 23-8% positive, respectively, for house dust). These results correlated closely with the skin-test reactivity of these subjects (60-3 vs 17-5% positive for house dust). In this group, the degree of intestinal helminthic infection was low (5-6% positive for Ascaris). In contrast, for the MSEL where the degree of parasitic infection was higher (13-0%), the total serum IgE levels were elevated in both allergic and non-allergic subjects (602 vs 363 IU/ml). Similarly, positivity for specific IgE antibody was high, and comparable between allergies and non-allergies of this group (61-5 vs 54-2%), as was also the case for skin-test reactivity (71-9 vs 60-4%). In the LSEL, parasitic infection was prevalent (47-6%), and the total serum IgE levels were markedly elevated, with little difference occurring between allergic and non-allergic individuals (2269 vs 1981 IU/ml). The positivity for specific IgE antibody was high, and effectively independent of the allergic state (75-6 vs 53-7%), but in contrast the skin test reactivity was relatively low (22-0 vs 9-8%). The lack of correlation between skin test and specific IgE results in this group appeared to have Correspondence: Dr Neil R. Lynch, Instituto de Biomedicina, Aptdo. 4043, Caracas lOlOA, Venezuela. N. R. Lynch et al. two causes. Firstly, although the frequency of positivity in specific IgE was high, only low grade antibody activity was detected. Secondly, studies ofskin reactivity indicated that some form of interference to target cell sensitization was occurring. The possible participation of helminth-induced polyclonally-increased IgE synthesis in the modification of allergic reactivity is discussed.

No abstract

Monitoring fish assemblages is needed to assess whether Marine Protected Areas (MPAs) are meeting their conservation and fisheries management goals, as it allows one to track the progress of recovery of exploited species and associated communities. Underwater Visual Census techniques (UVC) are used to monitor fish assemblages in MPAs. UVCs should be adapted to fish abundance, body-size and behaviour, which can strongly affect fish detectability. In Mediterranean subtidal habitats, however, UVC strip transects of one surface area (25x5 m2) are commonly used to survey the whole fish assemblage, from large shy fish to small crypto-benthic fish. Most high trophic level predators (HTLPs) are large shy fish which rarely swim close to divers and, consequently, their abundance may be under-estimated with commonly used transects. Here, we propose an improvement to traditional transect surveys to better account for differences in behaviour among and within species. First, we compared the effectiveness of combining two transect surface areas (large: 35x20 m2; medium: 25x5 m2) in quantifying large, shy fish within and outside Mediterranean MPAs. We identified species-specific body-size thresholds defining a smaller and a larger size class better sampled by medium and large transects respectively. Combining large and medium transects provided more accurate biomass and species richness estimates for large, shy species than using medium transects alone. We thus combined the new approach with two other transect surface areas commonly used to survey crypto-benthic (10x1 m2) and necto-benthic (25x5 m2) species in order to assess how effectively MPAs protection the whole fish assemblage. We verified that MPAs offer significant protection for HTLPs, their response in terms of biomass and density increase in MPAs was always higher in magnitude than other functional groups. Inside MPAs, the contribution of HTLP reached >25% of total fish biomass, against < 2% outside MPAs. Surveys with multiple transect surface areas allow for a more realistic assessment of the structure of the whole fish assemblage and better assessment of potential recovery of HTLPs within reserves of HTLP.

Rett syndrome (RTT) is a neurodevelopmental disorder, affecting 1 in 10,000 girls. Intellectual disability, loss of speech and hand skills with stereotypies, seizures and ataxia are recurrent features. Stringent diagnostic criteria distinguish classical Rett, caused by a MECP2 pathogenic variant in 95% of cases, from atypical girls, 40–73% carrying MECP2 variants, and rarely CDKL5 and FOXG1 alterations. A large fraction of atypical and RTT-like patients remain without genetic cause. Next Generation Sequencing (NGS) targeted to multigene panels/Whole Exome Sequencing (WES) in 137 girls suspected for RTT led to the identification of a de novo variant in STXBP1 gene in four atypical RTT and two RTT-like girls. De novo pathogenic variants—one in GABRB2 and, for first time, one in GABRG2—were disclosed in classic and atypical RTT patients. Interestingly, the GABRG2 variant occurred at low rate percentage in blood and buccal swabs, reinforcing the relevance of mosaicism in neurological disorders. We confirm the role of STXBP1 in atypical RTT/RTT-like patients if early psychomotor delay and epilepsy before 2 years of age are observed, indicating its inclusion in the RTT diagnostic panel. Lastly, we report pathogenic variants in Gamma-aminobutyric acid-A (GABAa) receptors as a cause of atypical/classic RTT phenotype, in accordance with the deregulation of GABAergic pathway observed in MECP2 defective in vitro and in vivo models.

Abstract. Marine Protected Areas (MPAs) have spread across the Mediterranean to protect its rich biodiversity and manage human activities for a more sustainable coastal development. Within MPAs, traditional artisanal fishing is competing for space and resources with increasing recreational fishing, likely leading to interacting ecological effects. Such effects are difficult to unravel, given the multispecies character of both fisheries and the complexity of the food webs upon which they both impact. To address these issues, we developed an Ecopath and EcoTroph trophic model for the Portofino MPA case study (NW Mediterranean), in particular to (1) identify keystone species and assess fishing impact on them; (2) analyze the interacting impact of artisanal and recreational fishing on ecosystem biomass and trophic structure; and (3) assess the impact of recreational fishing on artisanal fishing catches. Two high trophic level predator (HTLP) groups coupled important keystone roles with high sensitivity to fishing pressure and should thus be regarded as "sentinels" to be prioritized for the definition of management actions. Recreational fishing had the widest impact on the food web, strongly impacting HTLP. Simulation of different mortality scenarios for each fishery highlighted that the ecosystem is far from its carrying capacity for HTLP. Forbidding recreational fishing allowed a 24% increase in HTLP biomass and benefited artisanal fishing by increased availability of HTLP catches. Artisanal fishing alone could instead be maintained with a moderate impact on the food web. Overall, Ecopath and EcoTroph modeling is a valuable tool to advise MPA management, but it is essential to increase data availability and quality by developing long-term monitoring programs on key species and on artisanal and recreational fishing.

This study evaluates the fishing pressure exerted by the most common recreational and professional, small-scale fishing practices on vulnerable target and bycatch species in coastal and offshore waters of the western Mediterranean. By combining multiple data sources, we assembled a unique dataset on catches at multiple sites in these areas by recreational (RF) and small-scale fisheries (SSF), covering the period from 1997 to 2015. Furthermore, a framework with which to identify the vulnerable species among all the species caught is provided; it is based on the IUCN Red List, international conventions for the protection of flora and fauna, the Habitats Directive and the intrinsic vulnerability index of marine fish. Overall, about a quarter of exploited species targeted by SSF and RF in coastal waters were vulnerable, making up nearly 50% of the total SSF catch and nearly 20% of the total recreational catch. In offshore waters, 100% of the RF and SSF catch was made up of vulnerable species. Among the species caught as bycatch in both areas by SSF and RF, there was a total of 27 vulnerable vertebrate species, which included birds, cetaceans, elasmobranchs and sea turtles. Our results highlight the need to differentiate between different fishing methods or gears when studying the fishing impacts on vulnerable species. The results also indicate that, although RF and SSF are often considered to have a relatively low ecological impact, a range of different fishing methods are affecting vulnerable species in coastal or offshore waters in the western Mediterranean Sea, be they targeted or taken unintentionally as bycatch.

No abstract

Epilepsy is the most common comorbidity in patients with brain tumors. Study Aims: To define characteristics of brain tumor-related epilepsy (BTRE) patients and identify patterns of care. Nationwide, multicenter retrospective cohort study. Medical records of BTRE patients seen from 1/1/2010 to 12/31/2011, followed for at least one month were examined. Information included age, sex, tumor type/treatments, epilepsy characteristics, antiepileptic drugs (AEDs). Time to modify first AED due to inefficacy and/or toxicity was assessed with the Kaplan-Meier method and Cox proportional hazard models were used to identify predictors of treatment outcome. Enrolled were 808 patients (447 men, 361 women) from 26 epilepsy centers. Follow-up ranged 1 to 423 months (median 18 months). 732 patients underwent surgery, 483 chemotherapy (CT), 508 radiotherapy. All patients were treated with AEDs. Levetiracetam was the most common drug. 377 patients (46.7%) were still on first drug at end of follow-up, 338 (41.8%) needed treatment modifications (uncontrolled seizures, 229; side effects, 101; poor compliance, 22). Treatment discontinuation for lack of efficacy was associated with younger age, chemotherapy, and center with <20 cases. Treatment discontinuation for side effects was associated with female sex, enzyme-inducing drugs and center with > 20 cases. About one-half of patients with BTRE were on first AED at end of follow-up. Levetiracetam was the most common drug. A non enzyme-inducing AED was followed by a lower risk of drug discontinuation for SE.