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Topic Review
Spinal Muscular Atrophy Molecular Biomarkers
Spinal muscular atrophy (SMA) is a progressive degenerative illness that affects 1 in every 6 to 11,000 live births. This autosomal recessive disorder is caused by homozygous deletion or mutation of the SMN1 gene (survival motor neuron). As a backup, the SMN1 gene has the SMN2 gene, which produces only 10% of the functional SMN protein. Nusinersen and risdiplam, the first FDA-approved medications, act as SMN2 pre-mRNA splicing modifiers and enhance the quantity of SMN protein produced by this gene. The emergence of new therapies for SMA has increased the demand for good prognostic and pharmacodynamic (response) biomarkers in SMA.
  • 284
  • 14 Aug 2023
Topic Review
Loss of Consciousness Predicts Development of mTBI Symptoms
Traumatic brain injury (TBI) is a condition caused by a blow or jolt to the head. TBI may be classified as mild, moderate, or severe based on several criteria, including the duration of loss of consciousness (LOC), when present. While the majority of mild TBI (mTBI) patients recover without intervention, a subset of patients experience persistent and debilitating symptoms. Therefore, prediction of symptom development in mTBI patients remains an ongoing research goal. LOC is associated with adverse outcomes after mTBI, such as cognitive and memory deficits; psychiatric disorders; physical symptoms; and brain abnormalities associated with the aforementioned impairments.
  • 276
  • 16 May 2023
Topic Review
Management of Large-Core Infarct Ischemic Stroke
The volume of infarcted tissue in patients with ischemic stroke is consistently associated with increased morbidity and mortality. Initial studies of endovascular thrombectomy for large-vessel occlusion excluded patients with established large-core infarcts, even when large volumes of salvageable brain tissue were present, due to the high risk of hemorrhagic transformation and reperfusion injury. 
  • 272
  • 25 Oct 2023
Topic Review
Management and Treatment for Dysphagia in Neurodegenerative Disorders
Patients with neurodegenerative disorders (NDDs) often experience functional dysphagia, which may involve dysfunction in a specific phase of swallowing or in the entire process. Distinguishing the etiology of dysphagia can be difficult, and it is important to always look out for signs pointing to NDD as the cause. Thorough diagnostic work-up is essential, and it includes a comprehensive history and physical examination, alongside swallowing function tests, such as fiberoptic endoscopic evaluation of swallowing, videofluoroscopic swallowing study, and high-resolution manometry. Management requires a multidisciplinary approach with a treatment plan tailored to each patient. 
  • 257
  • 16 Jan 2024
Topic Review
Cases of Neurosarcoidosis
Sarcoidosis is a chronic granulomatous disease of unknown cause characterized by the presence of non-caseating granulomas. The disease can affect any organ including the nervous system. Neurosarcoidosis occurs in about 5% patients with sarcoidosis. The clinical presentation of neurosarcoidosis is varied, and it can involve the brain, spinal cord and peripheral nervous system, separately or in different combinations. The diagnosis of neurosarcoidosis is challenging, as biopsies from the nervous system are not readily available. Anti-TNFα agents are becoming one of the cornerstone treatments for neurosarcoidosis. 
  • 254
  • 22 Jan 2024
Topic Review
Diagnostic and Therapeutic Management of Atrial Fibrillation
Atrial fibrillation (AF) is the most prevalent cardiac arrhythmia worldwide and is a major cause of morbidity and mortality. It has a global prevalence of approximately 0.51%, increasing to 10–17% in those over age 80. AF is characterised by ectopic depolarisations, which lead to asynchronous atrial contractions and irregular ventricular activity
  • 253
  • 15 Nov 2023
Topic Review
Monogenic Parkinson’s Disease in Populations of Non-European Ancestry
Existing data reveal a pronounced heterogeneity in the genetic background of parkinson’s disease (PD). A number of common variants in populations of European ancestry appeared to be absent or scarce in patients of diverse ethnic backgrounds. Large-scale studies that include genetic screening in African, Asian or Latin American populations are underway. The outcomes of such efforts will facilitate further clinical studies and will possibly contribute to the identification of either new pathogenic mutations in already described genes or novel PD-related genes.
  • 251
  • 22 Jan 2024
Topic Review
Cell Therapy for Intervertebral Discs
An important mechanism for the development of intervertebral disc degeneration (IDD) is an imbalance between anti-inflammatory and pro-inflammatory cytokines. Therapeutic and non-therapeutic approaches for cytokine imbalance correction in IDD either do not give the expected result, or give a short period of time. This explains the relevance of high-tech medical care, which is part of specialized care and includes the use of new resource-intensive methods of treatment with proven effectiveness. 
  • 249
  • 15 Sep 2023
Topic Review
Pain and Disorders of Consciousness Patients
Pain assessment and management in patients with disorders of consciousness (DOC) is a challenging and important aspect of care, with implications for detecting consciousness and promoting recovery.
  • 233
  • 10 Aug 2023
Topic Review
Sonothrombolysis for Ischemic Stroke
Stroke is a major cause of death and disability globally, with ischemic stroke being the predominant mechanism. While spontaneous recanalization may occur, significant neuronal injury would have occurred in the interim. Intravenous thrombolysis administered within the first 4.5 h after stroke onset and endovascular thrombectomy within 24 h in patients with a salvageable penumbra improves functional independence. Ultrasound has been shown in both in vivo and in vitro models to enhance clot lysis, even more-so in the presence of thrombolytic agents. The use of transcranial Doppler and transcranial color-coded Doppler ultrasound in acute IS has been reported in case series, case-controlled studies, and clinical trials. While ultrasound at a frequency of 300 kHz increases the risk of intracranial hemorrhage, the 2 MHz range ultrasound aids thrombolysis and improves recanalization without significantly increasing the risk of symptomatic intracranial hemorrhage. Despite this, functional independence was not increased in clinical trials, nor was a benefit shown with the adjunctive use of microbubbles or microspheres. Nonetheless, newer technologies such as endovascular ultrasound, endovascular delivery of microbubbles, and thrombolytic-filled microbubbles await clinical trials. More evidence is needed before sonothrombolysis can be routinely used in the hyperacute management of ischemic stroke.
  • 210
  • 07 Mar 2024
Topic Review
Environmental Determinants in Emerging Stroke Risk
Up to 14% of all stroke-associated mortality is attributed to air pollution and is more pronounced in developing countries. Fine particulate matter and other air pollutants contribute to an increased stroke risk, and this risk appears to increase with higher levels and duration of exposure. Short term air pollution exposure has also been reported to increase the stroke risk. High altitudes have been associated with erythrocytosis and cerebrovascular sinus thrombosis, but several studies have reported an increased risk of thrombosis and ischemic stroke at high altitudes, typically above 3000 m. All these emerging risk factors are modifiable, and interventions to address them could potentially reduce stroke incidence.
  • 199
  • 14 Mar 2024
Topic Review
Invasive Treatments of Laryngeal Dystonia
Laryngeal dystonia (LD), known or termed as spasmodic dysphonia, is a rare movement disorder with an unknown cause affecting the intrinsic laryngeal muscles. Neurophysiological studies point to perturbed inhibitory processes, while conventional genetic studies reveal fragments of genetic architecture in LD. 
  • 191
  • 22 Nov 2023
Topic Review
Mechanisms of Cognitive Impairment in Chronic Kidney Disease
A notable feature of dementia in chronic kidney disease (CKD) patients is the high frequency of vascular dementia, making its prevention through the management of classical risk factors such as hypertension, diabetes mellitus, dyslipidemia, smoking, etc., associated with atherosclerosis and arteriosclerosis. Other effective measures, including the use of renin–angiotensin system inhibitors, addressing anemia, exercise therapy, and lifestyle improvements, have been reported. The incidence and progression of cognitive impairment (CI) may also be influenced by the type of kidney replacement therapy, with reports suggesting that long-duration dialysis, low-temperature hemodialysis, peritoneal dialysis, and kidney transplantation can have a preferable effect on the preservation of cognitive function. In conclusion, patients with CKD are at a higher risk of developing CI, with brain atrophy being a contributing factor. 
  • 189
  • 12 Mar 2024
Topic Review
Deep Brain Stimulation of Subcallosal Cingulate against Depression
Major depression contributes significantly to the global disability burden. Since the first clinical study of deep brain stimulation (DBS), over 446 patients with depression have now undergone this neuromodulation therapy, and 29 animal studies have investigated the efficacy of subgenual cingulate DBS for depression. 
  • 173
  • 21 Feb 2024
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