RESUMO
Research into various bacterial pathogens that can be transmitted between different animals and may have zoonotic potential has led to the discovery of different strains of Bartonella sp. in bats and their associated ectoparasites. Despite their enormous species diversity, only a few studies have focussed on the detection of bacterial pathogens in insectivorous bats of boreal forests and their associated Macronyssidae and Spinturnicidae mites. We collected and molecularly analysed mite samples from forest-dwelling bat species distributed all along the boreal belt of the Palearctic, from Central Europe to Far East. Ectoparasitic mites were pooled for DNA extraction and DNA amplification polymerase chain reaction (PCRs) were conducted to detect the presence of various bacterial (Anaplasmataceae, Bartonella sp., Rickettsia sp., Mycoplasma sp.) and protozoal (Hepatozoon sp.) pathogens. Bartonella sp. DNA was detected in four different mite species (Macronyssidae: Steatonyssus periblepharus and Spinturnicidae: Spinturnix acuminata, Sp. myoti and Sp. mystacinus), with different prevalences of the targeted gene (gltA, 16-23S ribosomal RNA intergenic spacer and ftsZ). Larger pools (>5 samples pooled) were more likely to harbour Bartonella sp. DNA, than smaller ones. In addition, cave-dwelling bat hosts and host generalist mite species are more associated with Bartonella spp. presence. Spinturnicidae mites may transmit several distinct Bartonella strains, which cluster phylogenetically close to Bartonella species known to cause diseases in humans and livestock. Mites with ubiquitous presence may facilitate the long-term maintenance (and even local recurrence) of Bartonella-infestations inside local bat populations, thus acting as continuous reservoirs for Bartonella spp in bats.
RESUMO
Movement disorders such as bradykinesia, tremor, dystonia, chorea, and myoclonus most often arise in several neurodegenerative diseases with basal ganglia and white matter involvement. While the pathophysiology of these disorders remains incompletely understood, dysfunction of the basal ganglia and related brain regions is often implicated. The VPS13D gene, part of the VPS13 family, has emerged as a crucial player in neurological pathology, implicated in diverse phenotypes ranging from movement disorders to Leigh syndrome. We present a clinical case of VPS13D-associated disease with two variants in the VPS13D gene in an adult female. This case contributes to our evolving understanding of VPS13D-related diseases and underscores the importance of genetic screening in diagnosing and managing such conditions.
Assuntos
Ataxias Espinocerebelares , Humanos , Feminino , Ataxias Espinocerebelares/genética , Ataxias Espinocerebelares/diagnóstico , Ataxias Espinocerebelares/congênito , Proteínas de Transporte Vesicular/genética , Adulto , Fenótipo , Mutação , Genes Recessivos , Linhagem , ProteínasRESUMO
In recent years, attention to the realization of a distributed fiber-optic microphone for the detection and recognition of the human voice has increased, whereby the most popular schemes are based on φ-OTDR. Many issues related to the selection of optimal system parameters and the recognition of registered signals, however, are still unresolved. In this research, we conducted theoretical studies of these issues based on the φ-OTDR mathematical model and verified them with experiments. We designed an algorithm for fiber sensor signal processing, applied a testing kit, and designed a method for the quantitative evaluation of our obtained results. We also proposed a new setup model for lab tests of φ-OTDR single coordinate sensors, which allows for the quick variation of their parameters. As a result, it was possible to define requirements for the best quality of speech recognition; estimation using the percentage of recognized words yielded a value of 96.3%, and estimation with Levenshtein distance provided a value of 15.