Search Results (335)

Neurodegenerative diseases (NDDs) are a group of progressive diseases affecting neuronal cells in specific areas of the brain, causing cognitive decline and movement impairment. Nowadays, NDDs play a significant role in the global burden of disease, and their incidence is increasing, particularly due to population aging. NDD onset is multi-factorial; based on the current knowledge, genetic, environmental, and cellular factors are believed to contribute to their occurrence and progression. Taking into account that at an early stage, the symptoms are not clearly defined, and diagnosis may be delayed, the development of innovative and non-invasive methodological approaches for early diagnosis of NDDs is strategic for timely and tailored disease management, as well as for the overall improvement of patients’ quality of life. The present review aims to provide, in the first part, an overview based on the current level of knowledge on the environmental risk factors that can explicate a role in the onset of the most common NDDs and on the main pathogenic mechanisms involved in disease initiation and progression. The second part aims to define the current state of the art regarding the significance of Volatile Organic Compounds (VOCs) in the volatome of different human biological matrices (exhaled breath, feces, and skin sebum) as candidate biomarkers of specific NDDs, with the aim of developing non-invasive diagnostic approaches for the early diagnosis and personalized management of the patients. A critical synthesis and discussion on the applied methodological approaches and on the relevant outcomes obtained across the studies is reported. Full article

Sphagneticola trilobata (L.) Pruski has been introduced to many countries due to its ornamental and economic value. However, it has been listed in the world’s 100 worst alien invasive species due to its invasive nature. This species easily escapes cultivation and forms dense ground covers. It reproduces asexually through ramet formation from stem fragments. It also produces a large number of viable seeds that establish extensive seed banks. The movement of stem fragments and the dispersal of seeds, coupled with human activity, contribute to its short- and long-distance distribution. S. trilobata grows rapidly due to its high nutrient absorption and photosynthetic abilities. It exhibits high genetic and epigenetic variation. It can adapt to the different habitats and tolerate various adverse environmental conditions, including cold and high temperatures, low and high light irradiation, low nutrient levels, waterlogging, drought, salinity and global warming. S. trilobata has powerful defense systems against herbivory and pathogen infection. These systems activate the jasmonic acid signaling pathway, producing several defensive compounds. This species may also acquire more resources through allelopathy, which suppresses the germination and growth of neighboring plants. These life history traits and defensive abilities likely contribute to its invasive nature. This is the first review to focus on the mechanisms of its invasiveness in terms of growth, and reproduction, as well as its ability to adapt to different environmental conditions and defend itself. Full article

Pythium-like organism species are widespread soilborne oomycetes known to cause root diseases in a wide range of plant hosts. However, their involvement in the decline of woody species in historical and urban gardens has received limited attention. This study reports the isolation and identification of a Pythium-like organism from declining Quercus ilex specimens in a historical garden, where affected trees showed symptoms of root rot and sucker dieback. Integration of morphological observations and molecular analyses of ITS, LSU, and Cox II sequences confirmed the identity of the isolates as Globisporangium glomeratum (formerly Pythium glomeratum). Pathogenicity tests confirmed the aggressiveness of these isolates on Q. ilex seedlings, resulting in significant reductions in plant height and shoot and root biomass. The detection of G. glomeratum in the soil of a historical garden underscores the risk of its unintentional dissemination through nursery stock or soil movement, particularly in urban settings where plant replacement is frequent. This is the first report of G. glomeratum as a pathogen of Q. ilex, emphasizing the importance of phytosanitary monitoring in culturally and ecologically valuable green spaces. Full article

Cattle fever ticks, Rhipicephalus microplus and Rhipicephalus annulatus, transmit Babesia pathogens, the causative agents of cattle fever worldwide. Although eradicated from the United States, increasing incursions of cattle fever ticks in Texas have put considerable strain on the Cattle Fever Tick Eradication Program (CFTEP). The movement of ticks between wildlife and cattle along the Texas–Mexico border complicates control efforts. Here, we used habitat suitability models, the literature, and quantitative survey data to project the distributions of native and introduced ungulates in Texas. Specifically, we used habitat suitability models and downscaling to estimate potential overlap between cattle and free-ranging white-tailed deer (Odocoileus virginianus) and nilgai (Boselaphus tragocamelus) that may carry cattle fever ticks and generate maps of estimated tick exposure risk. Our findings suggest that the introduction and spread of exotic ungulates, such as the nilgai antelope, may facilitate the expansion of cattle fever ticks within and beyond the historical quarantine zone established in 1943. The increasing range of nilgai populations could enhance landscape connectivity for cattle fever ticks in sensitive areas along the Texas–Mexico border. By combining these models with cattle inventory data, we provide tools to help the CFTEP better allocate resources, monitor tick populations, prevent incursions, and implement early interventions. Full article

N-methyl-D-aspartate receptors (NMDARs) are ionotropic glutamate channels that play a pivotal role in brain development and the regulation of learning and memory processes. De novo pathogenic variants in four genes encoding NMDA receptor subunits (GRIN1, GRIN2A, GRIN2B, and GRIN2D) have been implicated in a broad spectrum of neurodevelopmental disorders, including developmental delay, intellectual disability, autism spectrum disorders, epilepsy, and movement disorders. Mutations in the GRIN1 and GRIN2B genes, which encode the GluN1 and GluN2B subunits, respectively, are strongly associated with malformations of cortical development, including diffuse dysgyria, bilateral polymicrogyria, hippocampal dysplasia, corpus callosum hypoplasia, and other findings such as ventricular enlargement and basal ganglia abnormalities. Conversely, GRIN2A mutations are associated with heterogeneous and less specific neuroimaging patterns. We reviewed the existing literature on the neuroradiological features associated with GRIN gene mutations, also providing pictorial representations from our patient cohort. The analysis revealed a more consistent association of malformations of cortical development with GRIN1 and GRIN2B variants, likely reflecting the critical role of these genes in neuronal migration and proper development of cortical structures. In comparison, GRIN2A mutations are associated with milder brain abnormalities. An integrated assessment of neuroimaging patterns and GRIN gene variants provides valuable insights for differential diagnosis and supports targeted genetic screening in patients presenting with epileptic encephalopathy, global developmental delay, and autism spectrum disorders. Full article

A major cause of lameness in turkeys is reoviral arthritis, driven by turkey reovirus (TRV) infection. In the U.S., TRV was first isolated in the 1980s but re-emerged as a significant pathogen causing arthritis in 2011. Since then, TRV outbreaks have spread nationwide across turkey-producing regions and have occasionally resulted in hepatitis-associated pathotypes. The absence of a consistently effective commercial vaccine continues to hinder disease control efforts. To better understand TRV’s evolutionary trajectory and transmission dynamics, we analyzed 211 complete TRV genome sequences collected across the U.S. from 2007 to 2021. Bayesian time-scaled phylogenetic and phylogeographic analyses were conducted for all ten genome segments to estimate gene flow among geographic regions, client groups, and pathotypes. The results reconstructed a coherent, decades-long history of TRV evolution, which revealed segment-specific differences in the evolutionary rates—particularly in S1c (σC protein coding region of S1) and M2—suggesting reassortment with other avian reoviruses during the 2011 emergence. Nationwide spread patterns indicated dominant transmission routes from the Eastern U.S. to Minnesota and from breeder to smallholder flocks, likely driven by inter-regional animal or feed movement via the multi-stage turkey production cycle. Pathotype transitions were more frequently observed from arthritis-associated strains to those causing hepatitis or cardiac lesions. These findings provide crucial insights to support national TRV control strategies and long-term monitoring by industry stakeholders. Full article

Background: Paroxysmal dyskinesias (PDs) are rare, episodic movement disorders characterized by sudden and involuntary hyperkinetic motor events. In paediatric populations, their diagnosis is often complicated by clinical overlap with epilepsy and other neurological conditions. Genetic underpinnings have increasingly been recognized as key to understanding phenotypic heterogeneity and guiding treatment. Objectives: This systematic review aims to provide a comprehensive overview of paediatric PD, with a focus on genetic aetiologies, clinical features, subtype classification, and therapeutic approaches, including genotype–treatment correlations. Methods: We systematically reviewed the literature from 2014 to 2025 using PubMed. Inclusion criteria targeted paediatric patients (aged 0–18 years) with documented paroxysmal hyperkinetic movements and genetically confirmed or clinically suggestive PD. Data were extracted regarding demographics, dyskinesia subtypes, age at onset, genetic findings, and treatment efficacy. Gene categories were classified as PD-specific or pleiotropic based on functional and clinical features. Results: We included 112 studies encompassing 605 paediatric patients. The most common subtype was Paroxistic Kinesigenic Dyskinesia (PKD). Male sex was more frequently reported. The mean onset age was 5.99 years. A genetic diagnosis was confirmed in 505 patients (83.5%), involving 38 different genes. Among these, PRRT2 was the most frequently implicated gene, followed by SLC2A1 and ADCY5. Chromosomal abnormalities affecting the 16p11.2 region were identified in ten patients, including deletions and duplications. Among the 504 patients with confirmed monogenic variants, 390 (77.4%) had mutations in PD-specific genes, while 122 (24.2%) carried pleiotropic variants. Antiseizure drugs—particularly sodium channel blockers such as carbamazepine and oxcarbazepine—were the most frequently reported treatment, with complete efficacy documented in 59.7% of the studies describing their use. Conclusions: Paediatric PDs exhibit significant clinical and genetic heterogeneity. While PRRT2 remains the most common genetic aetiology, emerging pleiotropic genes highlight the need for comprehensive diagnostic strategies. Sodium channel blockers are effective in a subset of genetically defined PD, particularly PRRT2-positive cases. Patients with pathogenic variants in other genes, such as ADCY5 and SLC2A1, may benefit from specific therapies that can potentially change their clinical course and prognosis. These findings support genotype-driven management approaches and underscore the importance of genetic testing in paediatric movement disorders. Full article

The aim of this comprehensive review is to synthesize current knowledge on bovine respiratory disease (BRD), enhance diagnostic strategies, and support effective prevention and management practises. BRD remains a leading cause of morbidity and mortality in cattle, driven by a complex interplay of viral and bacterial pathogens, host factors, environmental stressors, and management conditions. Its prevalence (2.1% to 20.2%) varies across geographical regions, age groups, and diagnostic methods. BRD leads to significant economic losses through direct impacts such as mortality, reduced growth rates, and lighter carcass weights, as well as indirect costs like market restrictions and long-term productivity declines. Diagnosing BRD is challenging due to its non-specific clinical signs and frequent subclinical presentations. Traditional diagnostic tools like clinical respiratory scoring (CRS) systems provide structure but suffer from low sensitivity and subjectivity. Behavioural monitoring shows promise by detecting early changes in feeding, movement, and social behaviours. Thoracic auscultation is widely used but limited in accuracy. Thoracic ultrasonography (TUS) stands out as a more sensitive method for detecting subclinical disease and correlating with growth outcomes. Combining CRS with TUS enhances early and accurate detection. Advancing diagnostic approaches is critical for improving animal health and minimizing economic losses in cattle production systems. Full article

Skeletal muscle, constituting ~40% of body mass, serves as a primary effector for movement and a key metabolic regulator through myokine secretion. Hereditary myopathies, including dystrophinopathies (DMD/BMD), limb–girdle muscular dystrophies (LGMD), and metabolic disorders like Pompe disease, arise from pathogenic mutations in structural, metabolic, or ion channel genes, leading to progressive weakness and multi-organ dysfunction. Gene therapy has emerged as a transformative strategy, leveraging viral and non-viral vectors to deliver therapeutic nucleic acids. Adeno-associated virus (AAV) vectors dominate clinical applications due to their efficient transduction of post-mitotic myofibers and sustained transgene expression. Innovations in AAV engineering, such as capsid modification (chemical conjugation, rational design, directed evolution), self-complementary genomes, and tissue-specific promoters (e.g., MHCK7), enhance muscle tropism while mitigating immunogenicity and off-target effects. Non-viral vectors (liposomes, polymers, exosomes) offer advantages in cargo capacity (delivering full-length dystrophin), biocompatibility, and scalable production but face challenges in transduction efficiency and endosomal escape. Clinically, AAV-based therapies (e.g., Elevidys^® for DMD, Zolgensma^® for SMA) demonstrate functional improvements, though immune responses and hepatotoxicity remain concerns. Future directions focus on AI-driven vector design, hybrid systems (AAV–exosomes), and standardized manufacturing to achieve “single-dose, lifelong cure” paradigms for muscular disorders. Full article

Migratory birds play a key role in the ecology of tick-borne pathogens, serving as both hosts for ticks and as potential carriers of a wide range of infectious agents that can affect wildlife, domestic animals, and humans. Their long-distance movements contribute to the dispersal of ticks and the pathogens they harbor, with potential implications for the emergence and spread of zoonotic disease. This study focuses on the prevalence of Rickettsia spp. and Babesia/Theileria spp. in ticks collected from migratory birds in Sardinia, Italy, during two consecutive migration seasons (April–May and October–November 2021), corresponding to the spring and autumn migratory periods. A total of 961 ticks, primarily Ixodes ricinus, was collected from various bird species. Molecular analyses using polymerase chain reaction (PCR) and sequencing enabled the detection and identification of multiple Rickettsia species, with R. helvetica, R. monacensis, and R. aeschlimannii being the most frequently identified. Protozoan pathogens, including B. venatorum and Theileria ovis, were also detected in the tick samples. These findings underscore the diversity of pathogens in bird-associated ticks and the role of migratory birds in the geographical spread of these diseases. These results also provide valuable insights into pathogen transmission dynamics and stress the importance of monitoring migratory birds to assess and mitigate the risks of zoonotic diseases. Further research is needed to clarify the ecological interactions among birds, ticks, and pathogens across different geographic regions. Full article

Dystonia-myoclonus syndrome is a rare neurological condition characterized by involuntary muscle contractions and myoclonic jerks, significantly impairing daily functioning. Pharmacological management is often ineffective, prompting consideration of alternative therapeutic interventions such as deep brain stimulation (DBS). This report describes a novel clinical case involving a 38-year-old female with severe dystonic and myoclonic symptoms associated with a pathogenic mutation in the KCNN2 gene (DYT34). Bilateral DBS targeting the internal segment of the globus pallidus (GPi) resulted in marked and sustained symptom improvement, notably reducing dystonic posturing and myoclonic movements over the 24-month follow-up period. Neuropsychological and neurologopedic assessments revealed no adverse effects on cognition or speech. This represents the first sufficient effect of GPi-DBS in a patient with a genetically confirmed KCNN2 mutation, highlighting its potential efficacy and underscoring the need for genetic testing in patients presenting with dystonia-myoclonus syndromes. Full article

Pantoea stewartii subsp. stewartii (Pss) is a Gram-negative bacterium first documented in North America, and is the causal agent of Stewart’s disease in maize (Zea mays), especially in sweet corn. First identified in North America, it is primarily spread by insect vectors like the corn flea beetle (Chaetocnema Pulicaria) in the United States. However, Pss has since spread globally—reaching parts of Africa, Asia, the Americas, and Europe—mainly through the international seed trade. Although this trade is limited, it has still facilitated the pathogen’s global movement, as evidenced by numerous phytosanitary interceptions. Recent studies in Italy, as indicated in the EFSA journal, reported that potential alternative vectors were identified, including Phyllotreta spp. and the invasive Asian brown marmorated stink bug (Halyomorpha halys); the latter tested positive in PCR screenings, raising concerns due to its broad host range and global distribution. This information has prompted studies to verify the ability of Halyomorpha halys to vector Pss to assess the risk and prevent the further spread of Pss in Europe. In this study, we explored the potential transmission of Pss by the brown marmorated stink bugs in maize plants, following its feeding on Pss-inoculated maize, as well as the presence of Pss within the insect’s body. Full article

The European honey bee (Apis mellifera) significantly contributes to Australian agriculture, especially in honey production and the pollination of key crops. However, managed bee populations are declining due to pathogens, agrochemicals, poor forage, climate change, and habitat loss. Major threats include bacteria, fungi, mites, and pests. With the increasing demand for pollination and the movement of bee colonies, monitoring these threats is essential. It has been demonstrated that honey constitutes an easily accessible source of environmental DNA. Environmental DNA in honey comes from all organisms that either directly or indirectly aid in its production and those within the hive environments. In this study, we extracted eDNA from 135 honey samples and tested for the presence of DNA for seven key honey bee pathogens and pests—Paenibacillus larvae, Melissococcus plutonius (bacterial pathogens), Nosema apis, Nosema ceranae (microsporidian fungi), Ascosphaera apis (fungal pathogen), Aethina tumida, and Galleria mellonella (arthropod pests) by using end-point singleplex and multiplex PCR assays. N. ceranae emerged as the most prevalent pathogen, present in 57% of the samples. This was followed by the pests A. tumida (40%) and G. mellonella (37%), and the pathogens P. larvae (21%), N. apis (19%), and M. plutonius (18%). A. apis was detected in a smaller proportion of the samples, with a prevalence of 5%. Additionally, 19% of the samples tested negative for all pathogens and pests analysed. The data outlines essential information about the prevalence of significant arthropod, fungal, and bacterial pathogens and pests affecting honey bees in Australia, which is crucial for protecting the nation’s beekeeping industry. Full article

Viral infections and their vector dynamics pose a major threat to potatoes (Solanum tuberosum L.) worldwide, urgently needing an integrated understanding of the molecular and ecological interactions in this tripartite system. This review describes the major potato viruses, namely potato virus Y (PVY), the potato leafroll virus (PLRV), and potato virus X (PVX), with an emphasis on their infection and replication strategies in plants, as well as their movement within them. It also discusses plant responses to these viruses by uncovering RNA silencing, resistance (R) genes, and hormonal signaling. The complex dynamics of virus–vector interactions are discussed, considering the modes of transmission-persistent, non-persistent and semi-persistent—the role of viral proteins such as HC-Pro in determining vector specificity and adaptations in vectors that facilitate virus dissemination. This article discusses how vectors select potato plants, with an emphasis on the role played by plant-excreted volatiles and vector-applied saliva in plant defense. It also discusses host genes that contribute to vector resistance. This review provides an overview of the interactions between potato plants, viruses, and vectors and shows how viruses influence plant–vector interactions, the molecular pathways shared, and the altered gene expression profiles due to these interactions. The review offers an integrated perspective essential for developing sustainable and precise control strategies against potato viral pathogens under changing climatic conditions. Full article

Nitric oxide and reactive nitrogen species are key signalling molecules with pleiotropic effects in plants. They are crucial elements of the redox regulation of plant stress responses to abiotic and biotic stresses. Nitric oxide is known to enhance photosynthetic efficiency under abiotic stress, and reactive nitrogen species-mediated alterations in photosynthetic metabolism have been shown to confer resistance to abiotic stresses. However, knowledge about the role of reactive nitrogen species in plant immune responses remains limited. In this review, we highlight recent advancements in understanding the role of NO in regulating stomatal movement, which contributes to resistance against pathogens. We will examine the involvement of NO in the regulation of photosynthesis, which provides energy, reducing equivalents and carbon skeletons for defence, as well as the significance of protein S-nitrosylation in relation to immune responses. The role of NO synthesis induced in pathogenic organisms during plant–pathogen interactions, along with S-nitrosylation of pathogen effectors to counteract their pathogenesis-promoting activity, is also reported. We will discuss the progress in understanding the interactions between reactive nitrogen species and photosynthetic metabolism, focusing on enhancing crop plants’ productivity and resistance in challenging environmental conditions. Full article