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Abstract

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Engineering precision nanoparticles for drug delivery.

In recent years, the development of nanoparticles has expanded into a broad range of clinical applications. Nanoparticles have been developed to overcome the limitations of free therapeutics and navigate biological barriers - systemic, microenvironmental and cellular - that are heterogeneous across patient populations and diseases. Overcoming this patient heterogeneity has also been accomplished through precision therapeutics, in which personalized interventions have enhanced therapeutic efficacy. However, nanoparticle development continues to focus on optimizing delivery platforms with a one-

Subventricular Zone Microstructure in Pediatric-Onset Multiple Sclerosis.

OBJECTIVE: The aim of this study was to explore the microstructural dynamics of the subventricular zone (SVZ) with aging and their associations with clinical disability and brain structural damage in pediatric-onset multiple sclerosis (MS) patients. METHODS: One-hundred and forty-one pediatric-onset MS patients (67 pediatric and 74 adults with pediatric-onset) and 233 healthy controls (HC) underwent neurological and 3.0 T MRI assessment. Fractional anisotropy (FA) and mean diffusivity (MD) were extracted from the SVZ and the thalamus (as control region). RESULTS: In HC, SVZ FA was higher unt

Геномический диагноз детских расстройств: революция и эволюция.

Мощные, последние достижения в технологиях анализа генома оказали глубокое воздействие на практику медицинской генетики как в лаборатории, так и в клинике. Более широкое использование общегеномных тестов, таких, как анализ хромосомных микроарра и последовательность экзомов, привело к переходу к "генотипному" подходу. В настоящее время имеются многочисленные методы диагностики конкретного синдрома или фенотипа, и, хотя традиционные методы остаются эффективными инструментами в некоторых ситуациях, технологии с более высокой производительностью фактически стали лабораторным инструментом диагности

Pluripotent Stem Cells for Disease Modeling and Drug Discovery in Niemann-Pick Type C1.

The lysosomal storage disorders Niemann-Pick disease Type C1 (NPC1) and Type C2 (NPC2) are rare diseases caused by mutations in the NPC1 or NPC2 gene. Both NPC1 and NPC2 are proteins responsible for the exit of cholesterol from late endosomes and lysosomes (LE/LY). Consequently, mutations in one of the two proteins lead to the accumulation of unesterified cholesterol and glycosphingolipids in LE/LY, displaying a disease hallmark. A total of 95% of cases are due to a deficiency of NPC1 and only 5% are caused by NPC2 deficiency. Clinical manifestations include neurological symptoms and systemic

Review of the Current Knowledge on the Role of Stem Cell Transplantation in Neurorehabilitation.

The management involving stem cell (SC) therapy along with physiotherapy offers tremendous chance for patients after spinal cord injury (SCI), traumatic brain injury (TBI), stroke, etc. However, there are still only a limited number of reports assessing the impact of stem cells (SCs) on the rehabilitation process and/or the results of the simultaneous use of SC and rehabilitation. Additionally, since there is still not enough convincing evidence about the effect of SCT on humans, e.g., in stroke, there have been no studies conducted concerning rehabilitation program formation and expected outc

Неврология Андрогенса и Андродогенных добавок.

ЦЕЛЬ ОБЗОРА: В этой статье рассматривается сложная взаимосвязь между индрогенами, индрогенными рецепторами и центральной нервной системой. Мы изучаем роль физиологически производных ирогенов и андрогенных добавок в нейроразвитии и нейропластике и вникаем в участие индрогенных путей в патогенезе различных неврологических расстройств. ПОСЛЕДНИЕ ВЫВОДЫ: В настоящем обзоре обращается внимание на растущее признание тестостеронного и индрогенного сигналов в различных неврологических условиях, при этом имеются свидетельства как защитного, так и вредного воздействия в зависимости от дозы и контекста.

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

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Терапевтический потенциал и проблемы мезенхимальных стволовых клеток в неврологических расстройствах: краткий анализ.

Неврологические заболевания представляют собой широкий спектр заболеваний, затрагивающих как центральную, так и периферийные нервные системы. Нейродегенеративные заболевания включают группу изнурительных и зачастую фатальных неврологических расстройств, для лечения которых в настоящее время не хватает эффективных методов лечения. Клетки стволовых клеток признаются за их замечательную способность к распространению, многолинейной дифференциации и самовосстановлению. Пересадка стволовых клеток представляет собой значительный прогресс в терапевтических стратегиях лечения неврологических расстройст

Managing emotional and physical stress in sickle cell anemia: a review of effective strategies and approaches.

Sickle cell anemia (SCA) is a genetic blood disorder characterized by recurrent pain episodes, chronic complications, and significant emotional and physical stress. This review article explores effective strategies for managing both the emotional and physical aspects of stress in SCA patients. A comprehensive literature search was conducted across multiple databases, including PubMed, Scopus, and Google Scholar, using keywords such as "sickle cell anemia", "stress management", "psychological support", and "pain management". Emotional stress in SCA arises from chronic pain, frequent hospitaliza

Spatiotemperal Dynamics of Osteoarthritis: Преобразование значений от стенда до Бедсайда.

Остеоартрит (OA) представляет собой многогранное дегенеративное совместное расстройство, вызванное различными факторами риска, такими, как возраст, механический стресс, воспаление и метаболическое воздействие. Эти элементы способствуют его разнообразным фенотипам и эндотипам, что подчеркивает имманентную сложность болезни. Участие нескольких тканей и их взаимодействие еще больше осложняет расследование ОА. Нынешние ограничения в области технологий пространственного фенотификации в сочетании со сложной сетью многофакторных взаимодействий препятствуют обнаружению надежных ранних диагностических

Facial expression deep learning algorithms in the detection of neurological disorders: a systematic review and meta-analysis.

BackgroundNeurological disorders, ranging from common conditions like Alzheimer's disease that is a progressive neurodegenerative disorder and remains the most common cause of dementia worldwide to rare disorders such as Angelman syndrome, impose a significant global health burden. Altered facial expressions are a common symptom across these disorders, potentially serving as a diagnostic indicator. Deep learning algorithms, especially convolutional neural networks (CNNs), have shown promise in detecting these facial expression changes, aiding in diagnosing and monitoring neurological condition

Резюме докладов 51st Конференция Европейского общества генетики человека: плакаты

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Резюме докладов 53rd Конференция Европейского общества генетики человека: интерактивные электронные постеры.

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Совпадение в полном тексте источника
… In prenatal diagnosis decreased fetal movement is observed, the most severe forms being lethal in utero or after birth. … We report a case of a male fetus at 22 gestational weeks with evidence of AMC on ultrasound, presenting fixed extended legs and flexed arms, bilateral clubfoot and absent fetal movements. Frontal oedema was also observed. After amniocentesis, karyotype and SNParray resulted normal. …

Methamphetamine induces transcriptional changes in cultured HIV-infected mature monocytes that may contribute to HIV neuropathogenesis.

HIV-associated neurocognitive impairment (HIV-NCI) persists in 15-40% of people with HIV (PWH) despite effective antiretroviral therapy. HIV-NCI significantly impacts quality of life, and there is currently no effective treatment for it. The development of HIV-NCI is complex and is mediated, in part, by the entry of HIV-infected mature monocytes into the central nervous system (CNS). Once in the CNS, these cells release inflammatory mediators that lead to neuroinflammation, and subsequent neuronal damage. Infected monocytes may infect other CNS cells as well as differentiate into macrophages,

Proceedings of the CIMAGO Meeting - Challenges in Oncobiology Coimbra, 31st january 2020.

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Thalidomide upper limb embryopathy - pathogenesis, past and present management and future considerations.

This review article provides a comprehensive overview of thalidomide upper limb embryopathy including updates about its pathogenesis, a historical account of the management of the paediatric thalidomide patient, experience with management of the adult patient, as well as creating awareness about early onset age-related changes associated with limb differences. Despite its withdrawal from the market in November 1961, novel discoveries have meant thalidomide is licensed again and currently still in use to treat a variety of conditions, including inflammatory disorders and some cancers. Yet, if n

Peripheral inflammatory T cell subsets are effective predictive factors in the development of heterotopic ossification after posttraumatic elbow surgery.

Heterotopic ossification refers to the pathological formation of extra-skeletal bone. It is a common complication of trauma or surgery that can cause disability and has no definitive cure. Furthermore, the mechanisms underlying chronic inflammation during ossification remain unclear. Therefore, this study aimed to elucidate the systemic immune microenvironment status of heterotopic ossification and identify biomarkers of therapeutic efficacy and recurrence. A combination of stereoarthrolysis with prophylactic radiotherapy and non-steroidal anti-inflammatory drugs was used to treat patients wit

Concomitant Use of Neuroprotective Drugs in Neuro Rehabilitation of Multiple Sclerosis.

We provide an overview of rehabilitation in neurological diseases. A large amount of literature available on neurorehabilitation is based from the rehabilitative work on stroke and spinal cord injuries. After a brief description of rehabilitation, the potential application of neurorehabilitation in neurodegenerative diseases specifically multiple sclerosis (MS) is summarized. Since MS causes a wide variety of symptoms, the rehabilitation in MS patients may benefit from an interdisciplinary approach that encloses physiotherapy, cognitive rehabilitation, psychological therapy, occupational thera

Abstracts - IANCON 2024

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