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Transcriptome Analysis Reveals Altered Inflammatory Pathway in an Inducible Glial Cell Model of Myotonic Dystrophy Type 1.

Myotonic dystrophy type 1 (DM1), the most frequent inherited muscular dystrophy in adults, is caused by the CTG repeat expansion in the 3'UTR of the DMPK gene. Mutant DMPK RNA accumulates in nuclear foci altering diverse cellular functions including alternative splicing regulation. DM1 is a multisystemic condition, with debilitating central nervous system alterations. Although a defective neuroglia communication has been described as a contributor of the brain pathology in DM1, the specific cellular and molecular events potentially affected in glia cells have not been totally recognized. Thus,

Paraneoplastic Neuropathies: What's New Since the 2004 Recommended Diagnostic Criteria.

The diagnostic criteria published by the PNS (Paraneoplastic Neurological Syndromes) Euronetwork in 2004 provided a useful classification of PNS, including paraneoplastic neuropathies. Subacute sensory neuronopathy (SSN) was the most frequently observed peripheral PNS, whereas other forms of neuropathy, as sensory polyneuropathy, sensorimotor polyneuropathy, demyelinating neuropathies, autonomic neuropathies, and focal nerve or plexus lesions, were less frequent. At the time of publication, the main focus was on onconeural antibodies, but knowledge regarding the mechanisms has since expanded.

Расширенный полиглутамин в ATAXIN1 приводит к потере функции, которая усугубляет остроту множественного склероза в модели мыши EAE.

Ataxin-1 (ATXN1) — белок, в котором расширение его полиглутаминового тракта вызывает нервно-дегенеративное расстройство спинномозговой системы 1 (SCA1) в результате повышения функциональности. Недавно было продемонстрировано, что АТXN1 дикая порода играет защитную роль в регулировании жесткости экспериментального аутоиммунного энцефаломиелита (EAE) — хорошо зарекомендовавшей себя модели мыши для мультиклероза (MS). В этом исследовании дополнительно изучается роль ATXN1 с расширенным полиглутаминым трактом в контексте MS с использованием модели мыши EAE.МЕТОДЫ: Гемизигиозные мыши Atxn1 (Atxn12Q

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… The interaction between the activated glial cells and CD3-positive T cells in the cerebellum of SCA1 mice reflects the involvement of T cells in the neuroinflammatory response associated with the disease, indicating a potential link between immune activation and the degeneration of Purkinje cells. …

Diagnosis and treatment of cardiac amyloidosis: an interdisciplinary consensus statement.

The prevalence and significance of cardiac amyloidosis have been considerably underestimated in the past; however, the number of patients diagnosed with cardiac amyloidosis has increased significantly recently due to growing awareness of the disease, improved diagnostic capabilities and demographic trends. Specific therapies that improve patient prognosis have become available for certain types of cardiac amyloidosis. Thus, the earliest possible referral of patients with suspicion of cardiac amyloidosis to an experienced center is crucial to ensure rapid diagnosis, early initiation of treatmen

Cardiac amyloidosis: From diagnosis to therapeutics breakthroughs.

Cardiac amyloidosis (CA) is a progressive infiltrative cardiomyopathy resulting from the deposition of misfolded amyloid fibrils in the myocardium and heart valves, with the main forms being amyloid light-chain (AL), transthyretin-related (ATTR) (wild-type or hereditary), and amyloid A amyloidosis. Although historically underdiagnosed, recent advances in non-invasive imaging techniques such as cardiac magnetic resonance imaging and bone scintigraphy have significantly improved its recognition. This review outlines the current diagnostic approaches and therapeutic advancements in CA, emphasizin

Anti-cancer effects of nitrogen-containing bisphosphonates on human cancer cells.

Zoledronic acid, a potent nitrogen-containing bisphosphonate (NBP), has been extensively used to limit bone turnover in a various diseases including tumors. Recent clinical studies have demonstrated direct anti-cancer effects of zoledronic acid, in addition to its clinical benefits for skeletal-related events. Here we investigated the effects of 4 clinically available NBPs on human tumor cell proliferation. Our data demonstrate a potent anti-proliferative effect of zoledronic acid against glioblastoma (GBM) cell lines, breast cancer cells and GBM patient-derived lines. Zoledronic acid also eff

LAPTM proteins in neurological disorders - Autophagy-lysosome dysfunction and therapeutic targets: A review.

Lysosomal-associated protein transmembrane (LAPTM) family members-LAPTM4A, LAPTM4B, and LAPTM5-regulate lysosomal integrity, autophagy-lysosome flux, lipid homeostasis, and immune signaling, pathways increasingly implicated in neurological disease. This review synthesizes structure-function evidence for LAPTM proteins and examines how their dysregulation contributes to Alzheimer's and Parkinson's disease, ischemia-reperfusion injury, and gliomas. Based on a targeted narrative analysis of primary and translational studies, we highlight that LAPTM proteins influence lysosomal acidification and m

Доказательства потенциала гуанидов против Leishmania (Viannia) braziliensis: исследование витро эффективности, токсичности и влияния на ответ иммунной системы.

Лейшманиаз — это сложная группа инфекционных и паразитарных заболеваний, которая поражает десятки тысяч людей на пяти континентах. Лечение лейшманиаза остается сложной задачей, так как оно зависит от лекарств, известных своей высокой токсичностью и ограниченной эффективностью, что делает необходимым поиск новых молекул, которые обеспечивали бы большую эффективность и безопасность. Настоящее исследование посвящено изучению влияния семи синтетических гуанидиновых производных (LQOF-G1, LQOF-G2, LQOF-G6, LQOF-G7, LQOF-G32, LQOF-G35 и LQOF-G36) на паразита Leishmania (Viannia) braziliensis и витроп

Терапевтический потенциал кетогенного диета в лечении прогрессивного множественного склероза

До недавнего времени множественный склероз рассматривался как полностью подстрекательское заболевание без признания значительного нейродегенеративного компонента, ответственного за прогрессирование заболеваний и инвалидность. Этому аспекту мешают наблюдения о диссоциации между воспалением и нейродегенерацией, когда нейродегенеративный компонент может играть более важную роль в прогрессии заболеваний. В этом обзоре мы изучаем взаимосвязь между митохондриальной дисфункцией и нейродегенерацией при множественном склерозе. Мы анализируем доказательства того, что кетогенная диета может улучшить функ

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… A ketogenic diet increases succinic dehydrogenase (SDH) activity and recovers age-related decrease in numeric density of SDH-positive mitochondria in cerebellar Purkinje cells of late-adult rats Micron 2010 41 2 143 148 10.1016/j.micron.2009.08.010 2-s2.0-70649089277 19879153 77 Scarpulla R. C. …

Extraglandular Manifestations of Sjögren’s Syndrome (SS): Dermatologic, Arthritic, Endocrine, Pulmonary, Cardiovascular, Gastroenterology, Renal, Urology, and Gynecologic Manifestations

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Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.

O1 The metabolomics approach to autism: identification of biomarkers for early detection of autism spectrum disorder A. K. Srivastava, Y. Wang, R. Huang, C. Skinner, T. Thompson, L. Pollard, T. Wood, F. Luo, R. Stevenson O2 Phenome-wide association study for smoking- and drinking-associated genes in 26,394 American women with African, Asian, European, and Hispanic descents R. Polimanti, J. Gelernter O3 Effects of prenatal environment, genotype and DNA methylation on birth weight and subsequent postnatal outcomes: findings from GUSTO, an Asian birth cohort X. Lin, I. Y. Lim, Y. Wu, A. L. Teh, L

Review of Paraneoplastic Syndromes in Children with Malignancy.

A paraneoplastic syndrome (PNS) is a set of symptoms and signs that can accompany the formation of a cancer but is not due to its direct infiltration or metastasis. PNS results from the secretion of peptides or hormones by tumor cells or from an immunological cross-reaction between the tumor antigens and host antigens. In the adult population, PNS affects up to 15% of patients with cancer, but data on pediatric patients remain lacking. The remarkable fact is that PNS can precede an oncology diagnosis, even by months or years. PNS can involve virtually any organ of the human body. In children,

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… Ocular symptoms in OMS are associated with the presence of antinuclear antibodies type 1 and 2 and damage to Purkinje cells in the cerebellum and pontine neurons [ 96 ]. …

Interpreting clinical assays for histone deacetylase inhibitors.

As opposed to genetics, dealing with gene expressions by direct DNA sequence modifications, the term epigenetics applies to all the external influences that target the chromatin structure of cells with impact on gene expression unrelated to the sequence coding of DNA itself. In normal cells, epigenetics modulates gene expression through all development steps. When "imprinted" early by the environment, epigenetic changes influence the organism at an early stage and can be transmitted to the progeny. Together with DNA sequence alterations, DNA aberrant cytosine methylation and microRNA deregulat

Роль микроглии в синаптогенезе, синаптической и синаптической пластичности в физиологических условиях и в нарушениях центральной нервной системы.

Микроглии являются постоянными иммунными клетками мозга, которые были широко изучены для их иммунного наблюдения и фагоцитоза. В последние годы постепенно признается важная роль микроглии в синапсовом образовании, ликвидации и пластичности. Синапсы являются основным режимом связи между нейронами. Они постоянно меняются в количестве и пластичности на протяжении всего жизненного цикла, который является основой обучения и памяти. Микроглии являются сильно мотилированными, ветковыми формами, которые осуществляют мониторинг микроокружающей среды центральной нервной системы (КНС) и поощряют синапсов

An update on malignant tumor-related stiff person syndrome spectrum disorders: clinical mechanism, treatment, and outcomes.

Stiff person syndrome (SPS) is a rare central nervous system disorder associated with malignancies. In this review, we retrieved information from PubMed, up until August 2023, using various search terms and their combinations, including SPS, stiff person syndrome spectrum disorders (SPSSDs), paraneoplastic, cancer, and malignant tumor. Data from peer-reviewed journals printed in English were organized to explain the possible relationships between different carcinomas and SPSSD subtypes, as well as related autoantigens. From literature searching, it was revealed that breast cancer was the most

Cardiac amyloidosis: evolving pathogenesis, multimodal diagnostics, and principles of treatment.

Amyloidosis is a protein deposition disorder in which insoluble fibril structures accumulate in the bodily tissues damaging the organ function. Cardiac amyloidosis is a severe but under-reported medical condition characterized by the accumulation of amyloid in the extracellular area of the myocardium, which results in thickening and stiffening of ventricular walls. Cardiac amyloidosis has recently gained much attention with its slowly surging incidence. With this study, we seek to comprehensively compile the pathophysiology and clinical picture of cardiac amyloidosis subtypes, extending a clin

Ремонт тканей в центральной нервной системе: эпигенетическое программирование регуляторных Т клеток.

Регулирующие Т клетки хорошо известны своей иммуномодуляционной ролью, но также их регенеративная функция все чаще признается в различных типах тканей, включая скелетные мышцы, легкие и центральную нервную систему (ЦНС). В CNS Tregs, как было показано, поощряют дифференциацию олигодендроцитов в прекурсорных клетках, и их взаимодействие с микроглией поддерживает стимулирующую регенеративную микроокружную среду в мозгу. Подавляющая функция Tregs в значительной степени зависит от эпигенетической сигнатуры, в частности метилации ДНК, определенной сети связанных с Treg генов, включая FOXP3, CTLA4,

Neurology

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… As such, hypoplasia of the granule layer and disorganization of the Purkinje cells results ( Figure 27-4 ), leading to varying degrees of impairment. 34 Clinical signs become evident as soon as the animal is able to walk and include a base-wide stance, coarse whole body tremors, intention tremors, cerebellar …

Voltage-gated sodium channel as a target for metastatic risk reduction with re-purposed drugs.

ObjectiveTo determine the exact role of sodium channel proteins in migration, invasion and metastasis and understand the possible anti-invasion and anti-metastatic activity of repurposed drugs with voltage gated sodium channel blocking properties.Material and methodsA review of the published medical literature was performed searching for pharmaceuticals used in daily practice, with inhibitory activity on voltage gated sodium channels. For every drug found, the literature was reviewed in order to define if it may act against cancer cells as an anti-invasion and anti-metastatic agent and if it w

Standard Poster Abstracts for the 17th Asia Pacific Heart Rhythm Society (APHRS) Scientific Sessions

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