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Topic Review
Vascular Alterations in Alzheimer’s Disease Brains
Alzheimer’s disease (AD) is the most common degenerative disorder in the elderly in developed countries. Growing evidence is pointing at endothelial dysfunction as a key player in the cognitive decline course of AD. As a main component of the blood–brain barrier (BBB), the dysfunction of endothelial cells driven by vascular risk factors associated with AD allows the passage of toxic substances to the cerebral parenchyma, producing chronic hypoperfusion that eventually causes an inflammatory and neurotoxic response.
  • 897
  • 06 Apr 2023
Topic Review
Executive Functions and Theory of Mind in Aging
Social cognition is essential for maintaining relationships throughout life, with Theory of Mind (ToM) as its central component. ToM encompasses both cognitive and affective processes, enabling individuals to decipher concealed social cues and make moral judgments within various social contexts. ToM is a current topic of interest investigated in diverse age-related conditions, such as Mild Cognitive Impairment (MCI), a transitional stage between healthy and pathological aging. Recognizing ToM difficulties is crucial, as they can significantly impact decision-making and social interactions while also serving as valuable indicators for tracking disease progression. However, assessing ToM poses challenges, given the variety of available tests and the ongoing debate about its connection with other cognitive abilities. Existing literature suggests that executive functions (EF) can influence ToM performance, but only a few studies have delved into this aspect deeply. Improving the understanding of the dynamics of ToM, its interaction with age-related changes, and its possible variations in MCI is critical to promoting social well-being and cognitive health in older people.
  • 896
  • 25 Oct 2023
Topic Review
Patients with Juvenile Myoclonic Epilepsy
Juvenile myoclonic epilepsy (JME) appears in adolescence with myoclonic, absence, and generalized tonic clonic (GTC) seizures with paroxysmal activity of polyspike and slow wave (PSW), or spike and wave (SW) complexes in EEG.
  • 895
  • 28 Dec 2021
Topic Review Peer Reviewed
Traumatic Optic Neuropathy: Update on Management
Traumatic optic neuropathy is one of the causes of visual loss caused by blunt or penetrating head trauma and is classified as both direct and indirect. Clinical history and examination findings usually allow for the diagnosis of traumatic optic neuropathy. There is still controversy surrounding the management of traumatic optic neuropathy; some physicians advocate observation alone, while others recommend steroid therapy, surgery, or both. In this entry, researchers tried to highlight traumatic optic neuropathy’s main pathophysiologic mechanisms with the most available updated treatment. Recent research suggests future therapies that may be helpful in traumatic optic neuropathy cases.
  • 895
  • 13 Jan 2023
Topic Review
Parkinson’s Disease and Cardiac 123I-MIBG
Cardiac sympathetic denervation, as documented on 123I-metaiodobenzylguanidine (MIBG) myocardial scintigraphy, is relatively sensitive and specific for distinguishing Parkinson’s disease (PD) from other neurodegenerative causes of parkinsonism. 
  • 894
  • 30 Oct 2023
Topic Review
GAN-Based Applications in Parkinson’s Disease Diagnosis and Treatment
Data scarcity in the healthcare domain is a major drawback for most state-of-the-art technologies engaging artificial intelligence. The unavailability of quality data due to both the difficulty to gather and label them as well as due to their sensitive nature create a breeding ground for data augmentation solutions. Parkinson’s Disease (PD) which can have a wide range of symptoms including motor impairments consists of a very challenging case for quality data acquisition. Generative Adversarial Networks (GANs) can help alleviate such data availability issues.
  • 894
  • 22 Nov 2023
Topic Review
Amyloid Precursor Protein Gene Mutations
Mutations in the gene encoding amyloid precursor protein (APP) cause autosomal dominant inherited Alzheimer’s disease (AD). 
  • 893
  • 23 Dec 2021
Topic Review
STIM1 for Intracellular Calcium Handling
Stromal interacting molecule 1 (STIM1), a single transmembrane-spanning domain protein mainly residing in the endoplasmic reticulum (ER), is the unique ER Ca2+sensor deputed to ER Ca2+refilling. STIM1 was identified in 2005 by RNA interference-based screening of proteins with known signaling motifs. Molecularly, STIM1, residing into the organelle, senses luminal Ca2+ concentration by its N-terminus with a low affinity with an apparent dissociation constant (Kd) of ~0.2–0.6 mM and interferes with several plasma membrane ionic proteins. In this way, STIM1 coordinates the  complex Ca2+ entry mechanism called store-operated calcium entry (SOCE) deputed to ER Ca2+ recharge.
  • 893
  • 03 Mar 2022
Topic Review
Bioprinting of Hydrogel-Based Drug Delivery Systems
Globally, thousands of people are affected by severe nerve injuries or neurodegenerative disorders. These conditions cannot always be cured because nerve tissue either does not regenerate or does so at a slow rate. Therefore, tissue engineering has emerged as a potential treatment approach. The combination of bioprinting, hydrogels, and drug delivery effectively addresses key issues in nerve tissue regeneration.
  • 893
  • 28 Feb 2024
Topic Review
Antioxidant Intervention and Aging Brain
Both physiological and pathological aging processes induce brain alterations especially affecting the speed of processing, working memory, conceptual reasoning and executive functions. As aging is partly contributed by free radical reactions, it has been proposed that exogenous antioxidants could have a positive impact on both aging and its associated manifestations.
  • 892
  • 03 Jan 2023
Topic Review
Skeletal Muscle Pathogenesis in Polyglutamine Diseases
Polyglutamine diseases are characterized by selective dysfunction and degeneration of specific types of neurons in the central nervous system. In addition, nonneuronal cells can also be affected as a consequence of primary degeneration or due to neuronal dysfunction. Skeletal muscle is a primary site of toxicity of polyglutamine-expanded androgen receptor, but it is also affected in other polyglutamine diseases, more likely due to neuronal dysfunction and death. Nonetheless, pathological processes occurring in skeletal muscle atrophy impact the entire body metabolism, thus actively contributing to the inexorable progression towards the late and final stages of disease. 
  • 891
  • 28 Jul 2022
Topic Review
Digital Biomarkers in Multiple Sclerosis
Multiple sclerosis (MS) is a complex and chronic neurological disease of the central nervous system (CNS) that is characterized by a pathophysiological combination of neuroinflammation and neurodegeneration. As the inflammatory and neurodegenerative process can involve a variety of different neuroanatomical locations in the CNS, many functional neurological systems can be affected, ranging from visual, motor, cerebellar and sensory problems to complex cognitive symptoms. Since MS already occurs early in adulthood, accompanied by only a mildly reduced life expectancy, the highly heterogeneous disease, lasting over several decades, offers numerous inter-individually and intra-individually differences as well as different disease phenotypes evident in different disease stages. Each of these individual differences and disease phenotypes must be addressed when it comes to treating MS as well as MS-related symptoms (e.g., spasticity, pain and gait problems). 
  • 890
  • 24 Nov 2021
Topic Review
Association of Inflammatory Cytokine Genes with Depression
Depressive disorders are a heterogeneous group of diseases. The etiology, precise pathophysiological mechanisms, response to treatment, and outcome of depressive disorders are still poorly understood. The cytokine hypothesis of depression proposes that pro-inflammatory cytokines acting as neuromodulators are a key factor mediating behavioral, neuroendocrine, and neurochemical changes in this disease.
  • 890
  • 03 Aug 2023
Topic Review
Microglia and Alzheimer’s Disease
Microglia play a critical role in both homeostasis and disease, displaying a wide variety in terms of density, functional markers and transcriptomic profiles along the different brain regions as well as under injury or pathological conditions, such as Alzheimer’s disease (AD). The generation of reliable models to study into a dysfunctional microglia context could provide new knowledge towards the contribution of these cells in AD. In this work, we included an overview of different microglial depletion approaches. We also reported unpublished data from our genetic microglial depletion model, Cx3cr1CreER/Csf1rflx/flx, in which we temporally controlled microglia depletion by either intraperitoneal (acute model) or oral (chronic model) tamoxifen administration. Our results reported a clear microglial repopulation, then pointing out that our model would mimic a context of microglial replacement instead of microglial dysfunction. Next, we evaluated the origin and pattern of microglial repopulation. Additionally, we also reviewed previous works assessing the effects of microglial depletion in the progression of Aβ and Tau pathologies, where controversial data are found, probably due to the heterogeneous and time-varying microglial phenotypes observed in AD. Despite that, microglial depletion represents a promising tool to assess microglial role in AD and design therapeutic strategies
  • 888
  • 09 Oct 2021
Topic Review
Insulin/Insulin-like Growth Factor 1
Insulin (MW: 5.8 kDa) and insulin-like growth factor-1 (IGF1; also known as somatostatin C; MW: 7.65 kDa) are peptide hormones sharing significant structural homology with significant contributions to the regulation of whole-body metabolism and promotion of growth/cell renewal.
  • 888
  • 09 Dec 2022
Topic Review
Intracranial Aneurysms
Intracranial aneurysms represent a major global health burden. Rupture of an intracranial aneurysm is a catastrophic event. Without access to treatment, the fatality rate is 50% in the first 30 days. Over the last three decades, treatment approaches for intracranial aneurysms have changed dramatically. There have been improvements in the medical management of aneurysmal subarachnoid haemorrhage, and there has been an evolution of treatment strategies. Endovascular therapy is now the mainstay of the treatment of ruptured intracranial aneurysms based on robust randomised controlled trial data. 
  • 888
  • 16 Jan 2024
Topic Review
Cerebellar Neuropathology in Classical Scrapie
Classical scrapie is a naturally transmissible spongiform neurodegenerative disease that originally affected sheep, goats and mouflons and that has been observed for several centuries.  It is a “strange” disease that cannot be classified as a classical bacterial or viral infectious disease and does not follow the pathogenic patterns identified by infectious or neurodegenerative disease research.
  • 887
  • 10 May 2021
Topic Review
Link of Microbiome–Gut–Brain Axis and Brain Disorders
Neuropsychiatric diseases cover a wide spectrum of diseases affecting the brain, behaviour, and mood, affecting people of any age. Disruptions in microbial compositions have been implicated in diseases such as asthma, diabetes, inflammatory bowel disease, obesity, and autism. The microbiota–gut–brain axis (MGBA) is a bidirectional communication pathway between the gut bacteria and the central nervous system (CNS). It is an extension of the gut–brain axis, in which the enteric nervous system (ENS), CNS, and the GI-tract work together to affect physiological aspects of the gut: motility, secretion, and acid and mucus production. The bacteria may influence the brain via the production of neurotransmitters and bacterial metabolites via stimulation of the vagal nerve, the immune system, or the hypothalamic–pituitary–adrenal axis (HPA-axis). On the other hand, the brain’s effects on the gut in terms of secretion, peristalsis, and sensory are mainly transferred via the vagus nerve.
  • 886
  • 05 Sep 2022
Topic Review
Spinal Muscular Atrophy Diagnosis and Dried Saliva Spots
Spinal muscular atrophy (SMA) is a lower motor neuron disease, once considered incurable. The main symptoms are muscle weakness and muscular atrophy. More than 90% of cases of SMA are caused by homozygous deletion of survival motor neuron 1 (SMN1). Emerging treatments, such as splicing modulation of SMN2 and SMN gene replacement therapy, have improved the prognoses and motor functions of patients. However, confirmed diagnosis by SMN1 testing is often delayed, suggesting the presence of diagnosis-delayed or undiagnosed cases. To enable patients to access the right treatments, a screening system for SMA is essential. Even so, the current newborn screening system using dried blood spots is still invasive and cumbersome. Here, we developed a completely non-invasive screening system using dried saliva spots (DSS) as an alternative DNA source to detect SMN1 deletion. In this study, 60 DSS (40 SMA patients and 20 controls) were tested. The combination of modified competitive oligonucleotide priming-polymerase chain reaction and melting peak analysis clearly distinguished DSS samples with and without SMN1. In conclusion, these results suggest that our system with DSS is applicable to SMA patient detection in the real world.
  • 885
  • 29 Oct 2021
Topic Review
Tumor Necrosis Factor-α-Stimulated Gene 6
Tumor necrosis factor (TNF)-α-stimulated gene 6 (TSG-6), the first soluble chemokine-binding protein to be identified in mammals, inhibits chemotaxis and transendothelial migration of neutrophils and attenuates the inflammatory response of dendritic cells, macrophages, monocytes, and T cells. This immunoregulatory protein is a pivotal mediator of the therapeutic efficacy of mesenchymal stem/stromal cells (MSC) in diverse pathological conditions, including neuroinflammation.
  • 883
  • 29 Jan 2023
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