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Topic Review
Genetics and Pathophysiology of Neuronal Ceroid Lipofuscinosis
The term neuronal ceroid lipofuscinoses (NCL) refers to a group of autosomal recessive neurodegenerative disorders, presenting with myoclonic epilepsy, psychomotor delay, progressive loss of vision, and early death.
  • 399
  • 31 May 2022
Topic Review
Appropriate Vestibular Stimulation in Children and Adolescents
The structural development of the vestibular part of the inner ear is completed by birth but its central connections continue to develop until adolescence. Their development is dependent on vestibular stimulation—vestibular experience. Studies have shown that vestibular function, modulated by experience and epigenetic factors, is not solely an instrument for body position regulation, navigation, and stabilization of the head and images but also influences cognition, emotion, the autonomous nervous system and hormones. 
  • 398
  • 27 Dec 2023
Topic Review
Optical Coherence Tomography in Multiple Sclerosis
Multiple sclerosis (MS) is an inflammatory and neurodegenerative, potentially disabling disease of the central nervous system. OCT (Optical Coherence Tomography) and OCT-A (Optical Coherence Tomography with Angiography) are imaging techniques for the retina and choroid that are used in the diagnosis and monitoring of ophthalmological conditions. 
  • 393
  • 10 Aug 2022
Topic Review
Parkinson’s Disease, SARS-CoV-2 and Frailty
Literature has long established the association between aging and frailty, with emerging evidence pointing to a relationship between frailty and SARS-CoV-2 contagion. The possible neurological consequences of SARS-CoV-2 infection, associated with physical and cognitive frailty, could lead to a worsening of Parkinson’s disease (PD) in infected patients or—more rarely—to an increase in the Parkinsonian symptomatology. A possible link between those clinical pictures could be identified in vitamin D deficiency, while the whole process would appear to be associated with alterations in the microbiota–intestine–brain axis that fall within the α-Synuclein Origin site and Connectome (SOC) model, and allow for the identification of a body-first PD and a brain-first PD. The model of care for this condition must consider intrinsic and extrinsic variables so that care by a multidisciplinary team can be successfully predicted. 
  • 383
  • 14 Apr 2023
Topic Review
Methods of Muscle Tone Diagnosis
“Muscle tone” is a clinically important and widely used term and palpation is a crucial skill for its diagnosis. However, the term is defined rather vaguely, and palpation is not measurable objectively. Therefore, several methods have been developed to measure muscle tone objectively, in terms of biomechanical properties of the muscle. 
  • 379
  • 29 Aug 2023
Topic Review
Synergic Effect of Robot-Assisted Rehabilitation and Antispasticity Therapy
Stroke and spinal cord injury are neurological disorders that cause disability and exert tremendous social and economic effects. Robot-assisted training (RAT), which may reduce spasticity, is widely applied in neurorehabilitation. The combined effects of RAT and antispasticity therapies, such as botulinum toxin A injection therapy, on functional recovery remain unclear. Combined therapy improves functional recovery in the lower limbs but does not reduce spasticity in the upper or lower limbs.
  • 373
  • 02 Mar 2023
Topic Review
Brain Health and Cognition in Older Adults
Defined by the WHO as dynamic and adaptable across life stages, it emphasizes the importance of cognitive function in aging and the need to prevent cognitive decline. Subjective Cognitive Decline (SCD) emerges as a precursor to cognitive decline, with potential markers for progression identified. Preventive strategies target modifiable risk factors like diabetes, depression, and lifestyle choices, with multidomain personalized interventions showing promise in preserving cognitive function. The approach should also extends beyond high-risk individuals to a universal preventive model, stressing societal and political changes to promote brain health globally.
  • 365
  • 12 Jan 2024
Topic Review
Cold-Stimulus Headache in Children and Adolescents
Cold-stimulus headache (CSH) is a primary headache disorder brought on by a cold stimulus applied externally to the head, ingested, or inhaled. The literature on CSH is relatively sparse compared to other primary headache disorders, as it is a difficult condition to study, mostly because of its short-lasting duration. Moreover, works on the pediatric population are very limited and none of these consider children under 8 years of age. CSH has a higher lifetime prevalence in the pediatric population than in the adult one. Differently to the adult population in which women have a higher prevalence of CSH than men, there is no significant gender-specific prevalence in children.
  • 359
  • 23 Apr 2023
Topic Review
Genetics of Primary Familial Brain Calcification
Primary familial brain calcification (PFBC), also known as Fahr’s disease, is a rare inherited disorder characterized by bilateral calcification in the basal ganglia according to neuroimaging. Other brain regions, such as the thalamus, cerebellum, and subcortical white matter, can also be affected. Among the diverse clinical phenotypes, the most common manifestations are movement disorders, cognitive deficits, and psychiatric disturbances. Although patients with PFBC always exhibit brain calcification, nearly one-third of cases remain clinically asymptomatic.
  • 352
  • 12 Jul 2023
Topic Review
Common and Troublesome Symptoms of Multiple Sclerosis Management
It is known that MS commonly causes a range of symptoms such as fatigue, depression, urinary symptoms, spasticity, impairment of gait, and sexual dysfunction. This may affect multiple aspects of physical and psychological functioning with impacts ranging from distressing to disabling. Researchers present here the best practices as per Saudi consensus recommendations for recognizing and addressing these symptoms to improve the quality of life of patients. 
  • 349
  • 11 May 2023
Topic Review
Potential Targets for Conservative Interventions for Acute Concussions
The conservative paradigm is applicable to pain management for sports injuries. While pain is an injury symptom in the acute period, it can become uncoupled in the sub-acute phase from the injury that first caused it, evolving into its own distinct disease state. Classic examples of this in sports are when acute neck or back injuries transition into chronic low back pain (CLBP) or whiplash-associated disorders (WADs).
  • 337
  • 05 Feb 2024
Topic Review
S100B for Management of Mild Traumatic Brain Injury
(S100 calcium-binding protein B) S100B protein has emerged as the most widely studied and used biomarker for clinical decision making in patients with mTBI. In addition to its use as a diagnostic biomarker, S100B plays an active role in the molecular pathogenic processes accompanying acute brain injury.
  • 334
  • 12 Apr 2023
Topic Review
Therapeutic Strategies in Children with Epilepsy
Children with epilepsy are affected by several factors, including clinical and social variables. Among these variables, cognitive decline and behavioral disturbances, perceptions of stigma, and fatigue can lead to reductions in quality of life (QOL). Epileptic activities, including seizure severity, frequent seizures, and status epilepticus (SE), have been identified as important predictors of QOL. In addition, the frequency of interictal epileptiform discharges (IEDs) on electroencephalogram (EEG) may also be an important predictor of QOL, because IEDs can lead to cognitive decline and behavioral disturbances. Moreover, frequent seizures and/or IEDs may play a role in emotional mediators, such as stigma and fatigue, in childhood epilepsy. Seizure severity and/or IEDs are, therefore, important QOL-related factors in childhood epilepsy. 
  • 334
  • 15 Jan 2024
Topic Review
Lipid Abnormalities in Cerebrotendinous Xanthomatosis
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder caused by pathogenic variants in CYP27A1, leading to a deficiency in sterol 27-hydroxylase. This defect results in the accumulation of cholestanol and bile alcohols in various tissues, including the brain, tendons, and peripheral nerves. Elevated levels of cholestanol are consistently observed. Most patients present normal or low serum cholesterol levels. The decrease in chenodeoxycholic acid (CDCA) leads to increased synthesis of cholesterol metabolites such as bile alcohols 23S-pentol and 25-tetrol 3-glucuronide, which may serve as surrogate follow-up markers in patients with CTX. Lipid abnormalities in CTX have clinical implications. Cholestanol deposition in tissues contributes to the clinical manifestations, including neurological symptoms and tendon xanthomas. Dyslipidemia and abnormal cholesterol metabolism may also contribute to the increased risk of atherosclerosis and cardiovascular complications observed in some CTX patients.
  • 333
  • 27 Jun 2023
Topic Review
Potential of Antimicrobials in Multiple Sclerosis Treatment
Multiple sclerosis (MS) is a chronic, autoimmune, demyelinating disease of the central nervous system (CNS). Microbes, including bacteria and certain viruses, particularly Epstein–Barr virus (EBV), have been linked to the pathogenesis of MS. While there is currently no cure for MS, antibiotics and antivirals have been studied as potential treatment options due to their immunomodulatory ability that results in the regulation of the immune process. 
  • 326
  • 01 Dec 2023
Topic Review
Salivary Biomarkers for Alzheimer’s Disease
Alzheimer’s Disease (AD) is the most common neurodegenerative disease which manifests with progressive cognitive impairment, leading to dementia. Potential biomarkers include mainly proteins, metabolites and even miRNAs. Based on meta-analysis, in AD patients, salivary levels of beta-amyloid42 and p-tau levels were significantly increased, and t-tau and lactoferrin were decreased at borderline statistical significance.
  • 321
  • 29 Jan 2024
Topic Review
Acute Exercise and Your Brain
While the physical improvements from exercise have been well documented over the years, the impact of physical activity on mental health has recently become an object of interest. Physical exercise improves cognition, particularly attention, memory, and executive functions. However, the mechanisms underlying these effects have yet to be fully understood. 
  • 308
  • 07 Jul 2023
Topic Review
Dysferlinopathy
Dysferlinopathy is a disease caused by a dysferlin deficiency due to mutations in the DYSF gene. Dysferlin is a membrane protein in the sarcolemma and is involved in different functions, such as membrane repair and vesicle fusion, T-tubule development and maintenance, Ca2+ signalling, and the regulation of various molecules. Miyoshi Myopathy type 1 (MMD1) and Limb–Girdle Muscular Dystrophy 2B/R2 (LGMD2B/LGMDR2) are two possible clinical presentations, yet the same mutations can cause both presentations in the same family. They are therefore grouped under the name dysferlinopathy. 
  • 306
  • 26 Sep 2023
Topic Review
Sporadic Inclusion Body Myositis
Sporadic inclusion body myositis (sIBM) is the most common muscle disease of older people and is clinically characterized by slowly progressive asymmetrical muscle weakness, predominantly affecting the quadriceps, deep finger flexors, and foot extensors. 
  • 300
  • 12 Mar 2024
Topic Review
Therapies to Treat Neonatal Hypoxic-Ischemic Encephalopathy
Neonatal hypoxic-ischemic encephalopathy (HIE) is a condition that results in brain damage in newborns due to insufficient blood and oxygen supply during or after birth. HIE is a major cause of neurological disability and mortality in newborns, with over one million neonatal deaths occurring annually worldwide. The severity of brain injury and the outcome of HIE depend on several factors, including the cause of oxygen deprivation, brain maturity, regional blood flow, and maternal health conditions. HIE is classified into mild, moderate, and severe categories based on the extent of brain damage and resulting neurological issues. The pathophysiology of HIE involves different phases, including the primary phase, latent phase, secondary phase, and tertiary phase. The primary and secondary phases are characterized by episodes of energy and cell metabolism failures, increased cytotoxicity and apoptosis, and activated microglia and inflammation in the brain. 
  • 295
  • 30 Oct 2023
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