Audio-vestibular symptoms in systemic autoimmune diseases

Immune-mediated inner ear disease can be primary, when the autoimmune response is against the inner ear, or secondary. The latter is characterized by the involvement of the ear in the presence of systemic autoimmune conditions. Sensorineural hearing loss is the most common audiovestibular symptom associated with systemic autoimmune diseases, although conductive hearing impairment may also be present. Hearing loss may present in a sudden, slowly, rapidly progressive or fluctuating form, and is mostly bilateral and asymmetric. Hearing loss shows a good response to corticosteroid therapy that may lead to near-complete hearing restoration. Vestibular symptoms, tinnitus, and aural fullness can be found in patients with systemic autoimmune diseases; they often mimic primary inner ear disorders such as Menière’s disease and mainly affect both ears simultaneously. Awareness of inner ear involvement in systemic autoimmune diseases is essential for the good response shown to appropriate treatment. However, it is often misdiagnosed due to variable clinical presentation, limited knowledge, sparse evidence, and lack of specific diagnostic tests. The aim of this review is to analyse available evidence, often only reported in the form of case reports due to the rarity of some of these conditions, of the different clinical presentations of audiological and vestibular symptoms in systemic autoimmune diseases

Nine ideas to improve the clinical management of HIV infected patients during the COVID-19 pandemic

Globally, in 2019, HIV infection was still responsible for 1.7 million new infections 2.2 and for 690,000 deaths in the same year. Tailored and new antiretroviral therapy (ART) regimens, individualised follow-up and new technologies to support data-sharing between health—care professional caring for people living with HIV (PLHIV) and to deliver ART to patients are desperately needed to reach the 90-90-90-90 ambitious goals. The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus, responsible for the Coronavirus-19 (COVID-19) pandemic that spread globally in 2020, posed a huge challenge for PLHIV and HIV physicians worldwide in terms of continuum of care.In this paper we encourage “up-to-date patient-centred HIV medicine” and we give nine ideas to improve HIV management in clinical practice during the COVID-19 pandemic

Distribution of the brown bear (Ursus arctos marsicanus) in the Central Apennines, Italy, 2005-2014

Despite its critical conservation status, no formal estimate of the Apennine brown bear (Ursus arctos marsicanus) distribution has ever been attempted, nor a coordinated effort to compile and verify all recent occurrences has ever been ensured. We used 48331 verified bear location data collected by qualified personnel from 20052014 in the central Apennines, Italy, to estimate the current distribution of Apennine brown bears. Data sources included telemetry relocations, scats and DNA-verified hair samples, sightings, indirect signs of presence, photos from camera traps, and damage to properties. Using a grid-based zonal analysis to transform raw data density, we applied ordinary kriging and estimated a 4923 km2 main bear distribution, encompassing the historical stronghold of the bear population, and including a smaller (1460 km2) area of stable occupancy of reproducing female bears. National and Regional Parks cover 38.8% of the main bear distribution, plus an additional 19.5% encompassed by the Natura 2000 network alone. Despite some methodological and sampling problems related to spatial and temporal variation in sampling effort at the landscape scale, our approach provides an approximation of the current bear distribution that is suited to frequently update the distribution map. Future monitoring of this bear population would benefit from estimating detectability across a range on environmental and sampling variables, and from intensifying the collection of bear presence data in the peripheral portions of the distribution

Relevant but neglected habitat types by the Directive 92/43 EEC in southern Italy

The 92/43/EEC Habitats Directive is the main European Union legal tool concerning nature conservation. The habitat types listed in Annex I to the Directive are phytosociology-based. It is widely acknowledged that phytosociological analysis is a crucial approach for habitats characterization and for monitoring their conservation status. Based on bibliographic investigations and new field survey campaigns, a list of habitat types neglected by the Habitats Directive is here presented and described for southern Italy. In this paper, 8 new habitat types and 13 subtypes are proposed. For each of these proposed new habitat types, a wide range of information, including ecology, chorology, species composition, syntaxonomy, threats, and conservation status, is here provided. To supply more detailed phytogeographical and coenological information about the proposed new habitat types, distribution maps based on 10 x 10 km reference grids and phytosociological tables including unpublished releves were carried out

SARS-CoV-2 Infection Incidence and Outcome Before and After Full Vaccination in Patients With Monoclonal Gammopathy of Undetermined Significance

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Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)

Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the GAA gene encoding lysosomal alpha-glucosidase; its loss causes glycogen storage in lysosomes, mainly in the muscular tissue. The genotype-phenotype correlation has been extensively discussed, and caution is recommended when interpreting the clinical significance of any mutation in a single patient. As there is no evidence that environmental factors can modulate the phenotype, the observed clinical variability in PD suggests that genetic variants other than pathogenic GAA mutations influence the mechanisms of muscle damage/repair and the overall clinical picture. Genes encoding proteins involved in glycogen synthesis and catabolism may represent excellent candidates as phenotypic modifiers of PD. The genes analyzed for glycogen synthesis included UGP2, glycogenin (GYG1-muscle, GYG2, and other tissues), glycogen synthase (GYS1-muscle and GYS2-liver), GBE1, EPM2A, NHLRC1, GSK3A, and GSK3B. The only enzyme involved in glycogen catabolism in lysosomes is alpha-glucosidase, which is encoded by GAA, while two cytoplasmic enzymes, phosphorylase (PYGB-brain, PGL-liver, and PYGM-muscle) and glycogen debranching (AGL) are needed to obtain glucose 1-phosphate or free glucose. Here, we report the potentially relevant variants in genes related to glycogen synthesis and catabolism, identified by whole exome sequencing in a group of 30 patients with late-onset Pompe disease (LOPD). In our exploratory analysis, we observed a reduced number of variants in the genes expressed in muscles versus the genes expressed in other tissues, but we did not find a single variant that strongly affected the phenotype. From our work, it also appears that the current clinical scores used in LOPD do not describe muscle impairment with enough qualitative/quantitative details to correlate it with genes that, even with a slightly reduced function due to genetic variants, impact the phenotype

Notulae to the Italian flora of algae, bryophytes, fungi and lichens: 11

In this contribution, new data concerning bryophytes, fungi, and lichens of the Italian flora are presented. It includes new records and confirmations for the bryophyte genera Aneura, Aulacomnium, Dumortiera, Fossombronia, Hennediella, Hygrohypnella, Pohlia, Porella, Riccardia, Tortella, and Tortula, the fungal genera Cortinarius, Mycena, Naucoria, Trichoglossum, and Tubaria and the lichen genera Agonimia, Blastenia, Chaenotheca, Cladonia, Endocarpon, Gyalecta, Lecanographa, Parmeliella, Porpidia, Stenhammarella, and Thelidium