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Fabry Disease in a Female: A Unique Case Highlighting the Variability in Clinical Presentation.

Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient activity of the enzyme alpha-galactosidase A. This enzyme deficiency results in the accumulation of globotriaosylceramide (Gb3) in various tissues, causing multi-systemic manifestations. This case report presents a rare instance of Fabry disease in a 32-year-old female patient, highlighting the unique clinical presentation with multisystem involvement. Fabry disease is an X-linked lysosomal storage disorder that primarily affects males, while females are often considered asympt

Tetrameric assembly disruption impairs CXCL4 chaperon ability for DNA and type I interferon immune amplification.

Chemokine (C-X-C motif) ligand 4 (CXCL4), an antimicrobial chemokine with multiple effector functions, is a known biomarker in systemic sclerosis (SSc), but it also plays important roles in inflammatory bowel diseases, atopic dermatitis, psoriasis, systemic lupus erythematosus and other chronic inflammatory diseases. In SSc, the presence of CXCL4 correlates with severe disease progression: CXCL4 contributes to the interferon-(IFN)-I signature by forming pro-inflammatory liquid crystalline complexes with self-DNA, which have the capacity to activate TLR9 in a multivalent manner and potently ind

Microglial Dysfunction Induced by C9ORF72 Dipeptide Repeat Proteins: Biomarker and Therapeutic Perspectives.

The GGGGCC hexanucleotide repeat expansion (HRE) in C9ORF72 was recognized as the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Repeat-associated non-AUG (RAN) translation of the expanded repeat generated dipeptide repeat proteins (DPRs), which disrupted multiple cellular processes and contributed to neurodegeneration. Emerging evidence indicated that disease pathogenesis involved both gain-of-function (GOF) and loss-of-function (LOF) mechanisms. DPR-mediated GOF toxicity induced ribosomal dysfunction, nucleolar stress, proteostatic impairm

Deubiquitinase USP7 stabilizes the histone demethylase KDM5B and promotes the progression of renal fibrosis through the TSC1/mTOR axis.

Ubiquitin-specific protease 7 (USP7) is a deubiquitinase that plays critical regulatory roles in multiple signaling pathways by preventing the ubiquitin-mediated degradation of its substrates. Dysregulated expression of USP7 is implicated in tumor progression; however, its role in renal fibrosis remains unclear. In the present study, USP7 was observed to be significantly upregulated in the kidneys of patients with chronic kidney disease (CKD), which correlated with fibrotic lesions and renal dysfunction. Both genetic depletion and pharmacological blockade of USP7 significantly attenuated fibro

Targeted Drug Delivery in Animal Models of Demyelination: The Role of Plant-Based Nanoparticles with a Focus on Multiple Sclerosis.

Demyelinating diseases disrupt neural signaling through immune-mediated myelin damage, leading to sensory, motor, and cognitive deficits, particularly in multiple sclerosis (MS). The blood-brain barrier (BBB) limits drug delivery to the central nervous system (CNS), restricting therapies like fingolimod, which manage inflammation but do not support remyelination. Plant-based nanoparticles (NPs) with phytochemicals offer biocompatible, anti-inflammatory, antioxidant, and neuroprotective advantages, presenting alternatives for treatment. This review explores the therapeutic potential of plant-ba…

Multiple Sclerosis With Migraine and Pyoderma Gangrenosum Treated With Ofatumumab and Erenumab.

Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease of the central nervous system. Migraine is a common comorbidity in MS, with primary headache syndromes frequently observed. Ofatumumab, a high-efficacy anti-cluster of differentiation 20 (CD20) monoclonal antibody, and erenumab, a calcitonin gene-related peptide (CGRP) receptor antagonist, are available as subcutaneously administered monoclonal antibody agents. Despite their independent efficacy, there is limited evidence regarding the concurrent use of these two agents in patients with MS and migraine, especially in those…

Association of anti-inflammatory microglia interleukins with clinical and radiological parameters in patients with multiple sclerosis - a single-centre study in a Polish population.

INTRODUCTION: Multiple sclerosis (MS) is a chronic inflammatory disorder of the central nervous system characterized by immune-mediated demyelination and neurodegeneration. Currently, the prevailing concept emphasizes autoimmune mechanisms, with recent studies highlighting a critical role of microglial cytokines. STUDY OBJECTIVE: To determine the association between the anti-inflammatory microglial cytokines (IL-10, IL-4, IL-13) and selected clinical and radiological parameters of MS patients. MATERIAL AND METHODS: The study included 96 MS patients undergoing immunomodulatory therapy and 73 …

Psychosis in multiple sclerosis-a narrative review of an underestimated, but clinically significant problem.

Multiple sclerosis (MS) is a chronic autoimmune inflammatory disease of the central nervous system characterized by immune-mediated demyelination and subsequent axonal injury and neurodegeneration. Traditionally, the pathogenesis of MS has been attributed primarily to autoreactive immune responses targeting myelin sheaths antigens. However, growing evidence highlights the role of neurotransmitter dysregulation, particularly involving glutamate, acetylcholine, and dopamine pathways, in the development and progression of MS. These alterations in neurotransmitter systems may be especially relevan…

Modulation of the immunological and neuroinflammatory microenvironment in older people with multiple sclerosis.

Life expectancy and the age at onset of multiple sclerosis (MS) are increasing, and a growing proportion of people with MS (pwMS) are now older than 55-60 years. Aging modifies MS pathobiology, with the dominant disease mechanisms moving from focal, relapse-driven inflammation to chronic, compartmentalized neuroinflammation and neurodegeneration. In this narrative review, we summarize current knowledge on the relationship between brain aging and MS, integrating clinical, radiological, pathological and therapeutic evidence. We first discuss mechanisms of immunosenescence and "inflammaging", inc…

MiR-124 и MIR-155 в качестве терапевтических целей в Microglia-Mediated Inflammation in Multi-Sclerosis.

Множественный склероз (MS) — хроническое воспалительное заболевание, связанное с обезвоживанием и микроглиальной активацией. В последнее время был достигнут значительный прогресс в разработке стратегий лечения НР с уделением особого внимания микроглиальным ячейкам. В ответ на травму микроглия, население моноядерных фигоцитных клеток, переходит от умиротворения к активации. M1 микроглии производят провоспалительные цитокины, которые причиняют дополнительные повреждения, и поэтому они считаются нейротоксичными микроглией. М2 микроглиа высвобождает антивоспалительные факторы, которые ведут к пода

Совпадение в аннотации оригинала
Multiple sclerosis (MS) is a chronic inflammatory disease associated with demyelination and microglial activation. Significant progress has recently been made in the development of strategies to treat MS with a focus on microglial cells. In response to injury, microglia, a population of mononuclear phagocytic cells, change from quiescent to activated. M1 mic…

Молекулярный механизм и основные сигнальные пути развития и развития множественных склерозов.

Множественный склероз (MS) является хроническим, подстрекательским расстройством центральной нервной системы (CNS), которое часто приводит к значительной инвалидности, особенно у молодых людей. Считается, что его патогенез связан со сложным взаимодействием между генетической предрасположенностью и экологическими факторами, кульминацией которого является воспаление CNS. Несмотря на обширные исследования, варианты лечения MS остаются ограниченными и зачастую лишь частично эффективными. В настоящем обзоре рассматриваются ключевые сигнальные пути, связанные с продвижением НР, с уделением особого в

Совпадение в аннотации оригинала
Multiple sclerosis (MS) is a chronic, inflammatory central nervous system (CNS) disorder that often leads to significant disability, particularly in younger individuals. Its pathogenesis is thought to involve a complex interplay between genetic predispositions and environmental factors, culminating in CNS inflammation. Despite extensive research, treatment o…

Каннабиноиды в хронической боли: клинические результаты, неблагоприятные последствия и правовые проблемы.

Каннабиноиды приобретают все большее значение как потенциальные терапевтические агенты в борьбе с хронической болью. Их механизмы действий при посредничестве рецепторов CB1 и CB2 обеспечивают фармакологическую альтернативу традиционным анальгетикам. Улики сильны в нейропатической боли и множественной склерозовой спастисти, в то время как результаты фибромиалгии, остеоартрита и мускулоскелетной боли остаются непоследовательными. Средний показатель уменьшения боли является скромным и зачастую не превышает 0,5-1,0 пункта по шкале из 10 пунктов, а терапевтические выгоды компенсируются соображениям

Совпадение в аннотации оригинала
Cannabinoids have gained increasing attention as potential therapeutic agents in chronic pain management. Their mechanisms of action, mediated through CB1 and CB2 receptors, provide a pharmacological alternative to conventional analgesics. The evidence is strongest for neuropathic pain and multiple sclerosis-related spasticity, while the results for fibromya…

Повреждённая временная обработка в множестве склерозов.

Множественный склероз (MS) — хроническое аутоиммунное заболевание центральной нервной системы, которое повреждает серую и белую материю и снижает эффективность нейронной передачи. По данным исследований МРТ, ранние нейродегенерации в субкортических структурах, включая базальную ганглию (БГ), с микроструктурными повреждениями и изменчивой анизотропией тканей, о которых сообщается по всем подтипам MS, влияют на функциональную связь BG, а также связаны с усталостью. Учитывая центральную роль BG во временной обработке, мы предположили, что у людей с MS (PwMS) будет нарушено восприятие и двигательн

Совпадение в аннотации оригинала
Multiple sclerosis (MS) is a chronic autoimmune disease of the central nervous system that damages grey and white matter and reduces neural transmission efficiency. Volumetric MRI studies indicate early neurodegeneration in subcortical structures, including the basal ganglia (BG), with microstructural damages and altered tissue anisotropy reported across all…

Воздействие перорального кладрифина на повреждения парамагнитного обода пациентов с множественным склерозом.

ИСТОРИЯ ВОПРОСА: Повреждения парамагнитного обода (ПЗК), характеризующиеся хроническим воспалением и загруженной железом микроглией, связаны с сильными заболеваниями при множестве склерозов (МС). Воздействие кладрибина, иммунной реконструкции, на ПБД по-прежнему недостаточно изучено. ЦЕЛЬ: Оценка воздействия кладрибинных таблеток на PRL у пациентов, вновь выделяющих MS (RRMS), и изучение связи между динамикой PRLs и атрофией мозга. МЕТОДЫ: В период с 2018 по 2021 год в Буэнос-Айресе мы провели ретроспективный анализ 52 пациентов, прошедших курс лечения кладрибином. МРТ мозга были проанализиров

Совпадение в аннотации оригинала
BACKGROUND: Paramagnetic rim lesions (PRLs), marked by chronic inflammation and iron-loaded microglia, are linked to severe disease progression in multiple sclerosis (MS). The impact of cladribine, an immune reconstitution therapy, on PRLs remains underexplored. OBJECTIVE: To evaluate the effect of cladribine tablets on PRLs in relapsing-remitting MS (RRMS)…

Иммуномодулирующий потенциал токсоплазмы гонди лизата в C57BL/6 модели мыши аутоиммунного энцефаломиелита.

Множественный склероз (MS) — изнурительное аутоиммунное заболевание, характеризующееся хроническим воспалением и обезвоживанием в центральной нервной системе. Иммунотерапия является одним из важнейших элементов борьбы с симптомами и прогрессированием MS. Цель этого исследования состояла в том, чтобы оценить иммуномуляторное воздействие токсоплазмы гонди лизат антигенов (ТЛА) в модели мыши C57BL/6 экспериментального аутоиммунного энцефаломиелита (EAE). Восемнадцать мышей были произвольно отнесены к трем группам: здоровый контроль, мыши, вызванные EAE, и мыши, вызванные EAE, обработанные TLA. Еж

Совпадение в аннотации оригинала
Multiple sclerosis (MS) is a debilitating autoimmune disease characterized by chronic inflammation and demyelination within the central nervous system. Immunotherapy is an essential part of managing MS symptoms and progression. This study aimed to evaluate the immunomodulatory effects of Toxoplasma gondii lysate antigens (TLA) in a C57BL/6 mouse model of exp…

Autoimmune demyelination alters hypothalamic transcriptome and endocrine function.

The hypothalamus is a brain structure that is deputed to maintain organism homeostasis by regulating autonomic function and hormonal production as part of the neuroendocrine system. Dysfunction in hypothalamic activity results in behavioral alterations, depression, metabolic syndromes, fatigue, and infertility. Remarkably, many of these symptoms are associated with multiple sclerosis (MS), a chronic autoimmune disorder of the central nervous system (CNS) characterized by focal demyelination, immune cell infiltration into the brain parenchyma, and neurodegeneration. Furthermore, altered hormona…

Exploring Factors Associated with Falls in Multiple Sclerosis: Insights from a Scoping Review.

Multiple sclerosis (MS) is a chronic inflammatory condition that causes demyelination of the central nervous system accompanied by a wide range of symptoms. The high prevalence of falls among patients diagnosed with MS within the initial six months highlights the importance of this issue. The objective of this study is to identify factors associated with falls in MS patients in order to increase awareness and reduce the risk of falls. This scoping review used specific Mesh terms to formulate the literature search around falls and MS using Medline, Google Scholar, Scopus, and Embase search engi…

The Lung Microbiome: A New Frontier for Lung and Brain Disease.

Due to the limitations of culture techniques, the lung in a healthy state is traditionally considered to be a sterile organ. With the develo … hronic lung diseases and, in particular, we summarize the recent progress of the lung microbiome in multiple sclerosis, as well as the lung-brain axis.

Extracting Phonetic Posterior-Based Features for Detecting Multiple Sclerosis From Speech.

Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system which, in addition to affecting motor and cognitive functions, may also lead to specific changes in the speech of patients. Speech production, comprehension, repetition and naming tasks, as well as structural and content changes in narratives, might indicate a limitation of executive functions. In this study we present a speech-based machine learning technique to distinguish speakers with relapsing-remitting subtype MS and healthy controls (HC). We exploit the fact that MS might cause a motor speech disorde…

The Role and Clinical Relevance of Osteopontin in Allergic Airway Diseases.

The airway epithelium is exposed to numerous external irritants including infectious agents, environmental allergens, and atmospheric pollut … rotein, is a key mediator involved in Th1-related diseases, including systemic lupus erythematosus, multiple sclerosis, inflammatory bowel disease, and rheumatoid arthritis. Emerging evidence, including ours, indicates that epithelial-cell-derived OPN also plays an essential role in Th2-skewed airway diseases, including CRSwNP, AR, and allergic asthma involving the …