Tics and Swearing: a review of recent genetic data concerning Tourette Syndrome

Gilles de la Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by a series of vocal and motor tics. It usually appears on childhood and affects 0.3-0.9% of the population, with the incidence ratio of boys: girls being 4:1. TS has a complex pathogenic basis, including genetic, epigenetic and environmental factors. It shows great heritability, but the underlying genetic etiology remains unclear. The purpose of this study was the review of the most important recent genetic discoveries concerning TS. The research was conducted mainly through studies and scientific articles dating 2010 and after. Over the last few years, genetic research over TS has linked the disease with SNPs (single nucleotide polymorphisms) and CNVs (copy number variants) of specific genes, mainly involved in the dopaminergic and serotoninergic path. Many genes have been associated with the disease, including DRD2 and D4 (dopamine receptors D2 and D4), DAT1 (dopamine transporter 1), TPH2 (tryptophan hydroxylase), MAO-A (monoamine oxidase -Α), with more recent studies pointing towards NRXN1 (neurexin 1) and CNTN6 (contactin 6) genes. A mutation of a gene leading to insufficiency of histamine decarboxylase has been named as a risk factor for the syndrome. In other studies, CNVs in AADAC (arylacetamide deacetylase) gene have also showed possible involvement in the onset and course of TS. Moreover, a recent genome-wide study associated an SNP in gene COL27A1 (collagen type ΧΧVΙΙ, alpha 1) with the disease. The recent genetic data in this field has led to the establishment of experimental genetically targeted therapies. Further scientific research over the genetics of TS is deemed necessary, as it can potentially lead to a personalized gene-targeted therapy to TS

Beyond Lipoprotein(a) plasma measurements:Lipoprotein(a) and inflammation

Genome wide association, epidemiological, and clinical studies have established high lipoprotein(a) [Lp(a)] as a causal risk factor for atherosclerotic cardiovascular disease (ASCVD). Lp(a) is an apoB100 containing lipoprotein covalently bound to apolipoprotein(a) [apo(a)], a glycoprotein. Plasma Lp(a) levels are to a large extent determined by genetics. Its link to cardiovascular disease (CVD) may be driven by its pro-inflammatory effects, of which its association with oxidized phospholipids (oxPL) bound to Lp(a) is the most studied. Various inflammatory conditions, such as rheumatoid arthritis (RA), systemic lupus erythematosus, acquired immunodeficiency syndrome, and chronic renal failure are associated with high Lp(a) levels. In cases of RA, high Lp(a) levels are reversed by interleukin-6 receptor (IL-6R) blockade by tocilizumab, suggesting a potential role for IL-6 in regulating Lp(a) plasma levels. Elevated levels of IL-6 and IL-6R polymorphisms are associated with CVD. Therapies aimed at lowering apo(a) and thereby reducing plasma Lp(a) levels are in clinical trials. Their results will determine if reductions in apo(a) and Lp(a) decrease cardiovascular outcomes. As we enter this new arena of available treatments, there is a need to improve our understanding of mechanisms. This review will focus on the role of Lp(a) in inflammation and CVD

T Helper Cells: The Modulators of Inflammation in Multiple Sclerosis

Multiple sclerosis (MS) is a chronic neurodegenerative disease characterized by the progressive loss of axonal myelin in several areas of the central nervous system (CNS) that is responsible for clinical symptoms such as muscle spasms, optic neuritis, and paralysis. The progress made in more than one decade of research in animal models of MS for clarifying the pathophysiology of MS disease validated the concept that MS is an autoimmune inflammatory disorder caused by the recruitment in the CNS of self-reactive lymphocytes, mainly CD4+ T cells. Indeed, high levels of T helper (Th) cells and related cytokines and chemokines have been found in CNS lesions and in cerebrospinal fluid (CSF) of MS patients, thus contributing to the breakdown of the blood-brain barrier (BBB), the activation of resident astrocytes and microglia, and finally the outcome of neuroinflammation. To date, several types of Th cells have been discovered and designated according to the secreted lineage-defining cytokines. Interestingly, Th1, Th17, Th1-like Th17, Th9, and Th22 have been associated with MS. In this review, we discuss the role and interplay of different Th cell subpopulations and their lineage-defining cytokines in modulating the inflammatory responses in MS and the approved as well as the novel therapeutic approaches targeting T lymphocytes in the treatment of the disease

Blood parasites in endangered wildlife - Trypanosomes discovered during a survey of haemoprotozoa from the Tasmanian devil

The impact of emerging infectious diseases is increasingly recognised as a major threat to wildlife. Wild populations of the endangered Tasmanian devil, Sarcophilus harrisii, are experiencing devastating losses from a novel transmissible cancer, devil facial tumour disease (DFTD); however, despite the rapid decline of this species, there is currently no information on the presence of haemoprotozoan parasites. In the present study, 95 Tasmanian devil blood samples were collected from four populations in Tasmania, Australia, which underwent molecular screening to detect four major groups of haemoprotozoa: (i) trypanosomes, (ii) piroplasms, (iii) Hepatozoon, and (iv) haemosporidia. Sequence results revealed Trypanosoma infections in 32/95 individuals. Trypanosoma copemani was identified in 10 Tasmanian devils from three sites and a second Trypanosoma sp. was identified in 22 individuals that were grouped within the poorly described T. cyclops clade. A single blood sample was positive for Babesia sp., which most closely matched Babesia lohae. No other blood protozoan parasite DNA was detected. This study provides the first insight into haemoprotozoa from the Tasmanian devil and the first identification of Trypanosoma and Babesia in this carnivorous marsupial

Cross-species transmission of canine distemper virus—an update

AbstractCanine distemper virus (CDV) is a pantropic morbillivirus with a worldwide distribution, which causes fatal disease in dogs. Affected animals develop dyspnea, diarrhea, neurological signs and profound immunosuppression. Systemic CDV infection, resembling distemper in domestic dogs, can be found also in wild canids (e.g. wolves, foxes), procyonids (e.g. raccoons, kinkajous), ailurids (e.g. red pandas), ursids (e.g. black bears, giant pandas), mustelids (e.g. ferrets, minks), viverrids (e.g. civets, genets), hyaenids (e.g. spotted hyenas), and large felids (e.g. lions, tigers). Furthermore, besides infection with the closely related phocine distemper virus, seals can become infected by CDV. In some CDV outbreaks including the mass mortalities among Baikal and Caspian seals and large felids in the Serengeti Park, terrestrial carnivores including dogs and wolves have been suspected as vectors for the infectious agent. In addition, lethal infections have been described in non-carnivore species such as peccaries and non-human primates demonstrating the remarkable ability of the pathogen to cross species barriers. Mutations affecting the CDV H protein required for virus attachment to host-cell receptors are associated with virulence and disease emergence in novel host species. The broad and expanding host range of CDV and its maintenance within wildlife reservoir hosts considerably hampers disease eradication

Urban recreational fisheries in the Australian coastal zone:The sustainability challenge

Recreational fishing is an important wildlife harvesting activity in urban coastal areas, and recreational harvest in these areas can frequently exceed the commercial harvest. Recreational fishing is a key way that many members of the public experience the environment. The activity enhances social capital, promotes respect for nature, provides health benefits and can provide economic benefits to coastal communities. It is also an important driver of the science on aquatic animals and habitats, and an important tangible reason for many members of the public to conserve and protect aquatic resources. Overall, there has been little specific consideration of urban recreational fisheries management in Australia, despite the paramount importance of urban areas as a focus of recreational fishing activity. This paper identifies that in order to maximize individual and societal benefits from recreational fishing, there needs to be a refocussing of management with the aim of being more holistic. Historically, fisheries management in Australia has focused on maximum sustainable yield (MSY) or maximum economic yield (MEY) which is relevant for the commercial fishing sector, but neither of these is directly relevant to recreational fisheries. This paper identifies that Urban Fisheries Management Plans are required that recognize the specific issues associated with urban recreational fisheries. These plans need to coordinate within and between levels of government and have clear management objectives relevant to urban recreational fisheries. Enhanced opportunities for meaningful citizen science can be incorporated at multiple levels within these plans and this can engender public support for environmental stewardship, as well as fill a very important gap in the knowledge base necessary for managing the activity. As urban recreational fisheries are often occurring in highly modified or degraded habitats, a central element of these plans needs to be habitat restoration and this can have broader benefits for aquatic health. Other management tools include habitat creation (e.g., artificial reefs), optimization of coastal infrastructure as fisheries habitat, and stock enhancement. Overall, Urban Fisheries Management Plans represent a necessary evolution of fisheries management to better address the specific challenges of urban recreational fisheries management, and to best ensure that benefits are optimised

Axial Spondyloarthritis: Reshape the Future—From the “2022 GISEA International Symposium”

The term “axial spondyloarthritis” (axSpA) refers to a group of chronic rheumatic diseases that predominantly involve the axial skeleton and consist of ankylosing spondylitis, reactive arthritis, arthritis/spondylitis associated with psoriasis (PsA) and arthritis/spondylitis associated with inflammatory bowel diseases (IBD). Moreover, pain is an important and common symptom of axSpA. It may progress to chronic pain, a more complicated bio-psychosocial phenomena, leading to a significant worsening of quality of life. The development of the axSpA inflammatory process is grounded in the complex interaction between genetic (such as HLA B27), epigenetic, and environmental factors associated with a dysregulated immune response. Considering the pivotal contribution of IL-23 and IL-17 in axSpA inflammation, the inhibition of these cytokines has been evaluated as a potential therapeutic strategy. With this context, here we discuss the main pathogenetic mechanisms, therapeutic approaches and the role of pain in axSpA from the 2022 International GISEA/OEG Symposium

Axial Spondyloarthritis: Reshape the Future-From the "2022 GISEA International Symposium"

The term "axial spondyloarthritis" (axSpA) refers to a group of chronic rheumatic diseases that predominantly involve the axial skeleton and consist of ankylosing spondylitis, reactive arthritis, arthritis/spondylitis associated with psoriasis (PsA) and arthritis/spondylitis associated with inflammatory bowel diseases (IBD). Moreover, pain is an important and common symptom of axSpA. It may progress to chronic pain, a more complicated bio-psychosocial phenomena, leading to a significant worsening of quality of life. The development of the axSpA inflammatory process is grounded in the complex interaction between genetic (such as HLA B27), epigenetic, and environmental factors associated with a dysregulated immune response. Considering the pivotal contribution of IL-23 and IL-17 in axSpA inflammation, the inhibition of these cytokines has been evaluated as a potential therapeutic strategy. With this context, here we discuss the main pathogenetic mechanisms, therapeutic approaches and the role of pain in axSpA from the 2022 International GISEA/OEG Symposium