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Santaniello, A.

Publications and source records attributed to Santaniello, A..

3 recordsLinked to original sources

First report of Photobacterium damselae subspecies damselae in Razorbill (Alca torda)

A razorbill (Alca torda) was found dead in Bacoli, Italy, on January 16, 2023, during an exceptional irruptive event. The bird, a young female weighing 800 g with a moderate nutritional status and no external traumatic injuries underwent a post-mortem examination, which revealed coelomitis with severe congestion of the liver, lungs, kidneys, and myocardium. Lung, liver, kidney, and heart samples were collected for microbiological and histopathological analyses. Bacterial isolation on blood agar showed the growth of spherical/ovoid colonies after 48 hours, consistent with the Photobacterium genus. Identification by MALDI-TOF MS and PCR confirmed the presence of Photobacterium damselae subsp. damselae (Pdd), supported by 16S gene sequencing and detection of the ureC gene. PCR screening for virulence factors identified the hlyAch gene in lung samples, suggesting a potentially pathogenic strain in avian species. Histopathological examination showed severe, inflammatory infiltrates and widespread hemorrhages in the liver, the lung tissue and kidneys. In the myocardium, mild and multifocal lymphocytic infiltrates were present. These findings suggest a significant role of P. damselae subsp. damselae in the observed lesions. The results of the study revealed a new cross-species transmission of this potential zoonotic bacterium and the need for further research in this field. ImportanceWith this study we revealed the first isolation of Photobacterium damselae subsp. damselae in a razorbill but especially the first in a migratory bird. We documented a new cross-species transmission of P. damselae subsp. damselae and the need for further research, highlighting its zoonotic potential and therefore raising concerns about potential implications for marine wildlife, aquaculture and human health. Considering the role of migratory birds in the spread of infectious diseases even over long distances and the effect of climate change on marine ecosystems, and consequently on the circulation of pathogens, it is essential to adopt a preventive approach to mitigate this potential zoonotic risks.

microbiology↗

MHConstructor: A high-throughput, haplotype-informed solution to the MHC assembly challenge

The extremely high levels of genetic polymorphism within the human major histocompatibility complex (MHC) limit the usefulness of reference-based alignment methods for sequence assembly. We incorporate a short read de novo assembly algorithm into a workflow for novel application to the MHC. MHConstructor is a containerized pipeline designed for high-throughput, haplotype-informed, reproducible assembly of both whole genome sequencing and target-capture short read data in large, population cohorts. To-date, no other self-contained tool exists for the generation of de novo MHC assemblies from short read data. MHConstructor facilitates wide-spread access to high quality, alignment-free MHC sequence analysis.

bioinformatics↗

The Multiple Sclerosis Genomic Map: Role of peripheral immune cells and resident microglia in susceptibility

AbstractWe assembled and analyzed genetic data of 47,351 multiple sclerosis (MS) subjects and 68,284 control subjects and establish a reference map of the genetic architecture of MS that includes 200 autosomal susceptibility variants outside the major histocompatibility complex (MHC), one chromosome X variant, and 32 independent associations within the extended MHC. We used an ensemble of methods to prioritize up to 551 potentially associated MS susceptibility genes, that implicate multiple innate and adaptive pathways distributed across the cellular components of the immune system. Using expression profiles from purified human microglia, we do find enrichment for MS genes in these brain - resident immune cells. Thus, while MS is most likely initially triggered by perturbation of peripheral immune responses the functional responses of microglia and other brain cells are also altered and may have a role in targeting an autoimmune process to the central nervous system.\n\nOne Sentence SummaryWe report a detailed genetic and genomic map of multiple sclerosis, and describe the role of putatively affected genes in the peripheral immune system and brain resident microglia.

genetics↗