55 research outputs found
Integrazioni alla flora vascolare dell’Isola di Capri (Campania, sud Italia)
In the present work new data of vascular plant species (Atriplex prostrata Boucher ex DC., Bidens subalternans DC., Cyrtomium falcatum (L.f.) C.Presl, Lantana camara L. subsp. glandulosissima (Hayek) R.W.Sanders, Oloptum thomasii (Duby) Banfi & Galasso) and confirms (Anacamptis morio (L.) R.M.Bateman, Pridgeon & M.W.Chase, Neotinea maculata (Desf.) Stearn, Salvia clandestina L., Schoenus nigricans L., Viola riviniana Rchb.) are reported for Island of Capri
Myoimaging in the NGS era: The discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features -a case report
Background: Myosin heavy chain 7 related myopathies are rare disorders characterized by a wide phenotypic spectrum and heterogeneous pathological features. In the present study, we performed clinical, morphological, genetic and imaging investigations in three relatives affected by autosomal dominant distal myopathy. Whilst earlier traditional Sanger investigations had pointed to the wrong gene as disease causative, next-generation sequencing allowed us to obtain the definitive molecular genetic diagnosis in the family.Case presentation: The proposita, being found to harbor a novel heterozygous mutation in the RYR1 gene (p. Glu294Lys), was initially diagnosed with core myopathy. Subsequently, consideration of muscle magnetic resonance imaging (MRI) features and extension of family study led this diagnosis to be questioned. Use of next-generation sequencing analysis identified a novel mutation in the MYH7gene (p.Ser1435Pro) that segregated in the affected family members.Conclusions: This study identified a novel mutation in MYH7 in a family where the conclusive molecular diagnosis was reached through a complicated path. This case report might raise awareness, among clinicians, of the need to interpret NGS data in combination with muscle MRI patterns so as to facilitate the pinpointing of the main molecular etiology in inherited muscle disorders
Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report
Myosin heavy chain 7 related myopathies are rare disorders characterized by a wide phenotypic spectrum and heterogeneous pathological features. In the present study, we performed clinical, morphological, genetic and imaging investigations in three relatives affected by autosomal dominant distal myopathy. Whilst earlier traditional Sanger investigations had pointed to the wrong gene as disease causative, next-generation sequencing allowed us to obtain the definitive molecular genetic diagnosis in the family
Conserving plant diversity in Europe: outcomes, criticisms and perspectives of the Habitats Directive application in Italy
Habitat Directive is the core strategy of nature conservation in Europe aiming at halting biodiversity loss. In this study the results of the third Italian assessment regarding the conservation status (CS) of plants listed in the Habitat Directive (Flora of community interest—FCI) was presented. Data was collected from several sources related to plant distribution, population data, habitats and pressures. Following the official European procedure, all parameters were evaluated and combined to give the CS of each taxon in each biogeographical region of presence. A comparison between the recent Italian IUCN and Reporting assessments was performed in order to evaluate the consistency between these two assessments. The official EU checklist comprises 113 Italian plant taxa, 107 of which were examined in this study. Our results showed a critical situation with only 34% of favourable CS, while 50% were unfavourable (40% inadequate plus 10% bad) and 16% unknown, in particular in the Mediterranean bioregion, where the unfavourable assessments reach the 65%. The results of the Report were consistent with those of the IUCN assessment, in which 41.9% of plants were threatened with extinction. This report highlighted some benefits and criticisms at national level, but it may have a wider significance. Although a general advance of knowledge, a great effort is needed to reach the Habitats Directive goals. Despite the limited resources, monitoring activities needs to be improved in order to close information gaps for several plants. A positive outcome was the development of a specific national project funded by the Italian Ministry of Environment, with the ambitious target to set future monitoring activities for FCI and optimize monitoring efforts
The species-specific monitoring protocols for plant species of Community interest in Italy.
The results of a project for the identification of species-specific monitoring protocols for the Italian plant species protected under the Habitats Directive (Annexes II/IV/V) are presented. The project led to the development of 118 monitoring factsheets, providing an operational guidance for 107 vascular taxa, 10 bryophytes and 1 lichen taxon. Each factsheet includes information on the species (distribution, biology, ecology, conservation status, threats, etc.) and the description of field methodologies for the detection of the two main reporting parameters, i.e. population size and habitat quality. Practical information to plan field activities are also given. Protocols were designed to address the requirements of the European reporting system with the aim to standardize future monitoring activities, optimize efforts at national scale and overcome some current problems related to data heterogeneity and discrepancies from the EC standards. More than 60 botanists collaborated to identify the best practices and to design an operational field survey format through several stages of discussion and sharing. The protocols, developed by ISPRA and Scientific Societies and shared with the Italian institutions responsible for the Directive application, were published in a dedicated National handbook. The work provides a first uniform technical basis for future national monitoring plans
Kosteletzkya pentacarpos (L.) Ledeb.
Viene definita la distribuzione in Italia di Kosteletzkya pentacarpos e discusso il suo stato di conservazione
"I know that you know that I know": neural substrates associated with social cognition deficits in DM1 patients
Myotonic dystrophy type-1 (DM1) is a genetic multi-systemic disorder involving several organs including the brain. Despite the heterogeneity of this condition, some patients with non-congenital DM1 can present with minimal cognitive impairment on formal testing but with severe difficulties in daily-living activities including social interactions. One explanation for this paradoxical mismatch can be found in patients' dysfunctional social cognition, which can be assessed in the framework of the Theory of Mind (ToM). We hypothesize here that specific disease driven abnormalities in DM1 brains may result in ToM impairments. We recruited 20 DM1 patients who underwent the "Reading the Mind in the Eyes" and the ToM-story tests. These patients, together with 18 healthy controls, also underwent resting-state functional MRI. A composite Theory of Mind score was computed for all recruited patients and correlated with their brain functional connectivity. This analysis provided the patients' "Theory of Mind-network", which was compared, for its topological properties, with that of healthy controls. We found that DM1 patients showed deficits in both tests assessing ToM. These deficits were associated with specific patterns of abnormal connectivity between the left inferior temporal and fronto-cerebellar nodes in DM1 brains. The results confirm the previous suggestions of ToM dysfunctions in patients with DM1 and support the hypothesis that difficulties in social interactions and personal relationships are a direct consequence of brain abnormalities, and not a reaction symptom. This is relevant not only for a better pathophysiological comprehension of DM1, but also for non-pharmacological interventions to improve clinical aspects and impact on patients' success in life
Conserving plant diversity in Europe: outcomes, criticisms and perspectives of the Habitats Directive application in Italy
Additions to the vascular flora of the islands of Procida and Vivara (Campania, Southern Italy).
Additions to the vascular flora of the islands of Procida and Vivara (Campania, southern Italy). In the present work new data of vascular plant species (Amaranthus graecizans subsp. silvestris, Amaranthus viridis, Antirrhinum siculum, Araujia sericifera, Catapodium pauciflorum, Diospyros kaki, Galinsoga quadriradiata, Gamochaeta pensylvanica, Oxalis debilis, Oxalis latifolia, Portulaca granulatostellulata, Stenotaphrum secundatum) and confirmation of previous findings (Foeniculum vulgare subsp. vulgare, Posidonia oceanica) are reported for the islands of Procida and Vivara. Furthermore, Kalanchoë ×houghtonii (casual) and Opuntia microdasys (naturalized) are new for the alien flora of the region (Campania), while Gazania rigens and Syringa vulgaris are reported for the first time in the province of Naples. The results obtained show the extensive presence of widely distributed and alien species. This may be due to progressive urbanization of the study areas and the increasing number of exotic species used in(and escaping from) artificial green areas
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