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Cureus Feb 2023Age-related macular degeneration (AMD) is a highly prevalent macular condition that primarily affects the older population. It is the primary cause of blindness amongst... (Review)
Review
Age-related macular degeneration (AMD) is a highly prevalent macular condition that primarily affects the older population. It is the primary cause of blindness amongst the elderly population. It is an inflammatory disease that characteristically shows choroidal neovascularization and geographic atrophy. The exact pathomechanism of developing AMD is not known. However, certain factors such as increased age, smoking, genetic factors and certain environmental factors are usually associated with the development of the disease. AMD also involves oxidative stress-mediated destruction of retinal pigment epithelial cells and, consequently, that of retinal photoreceptors. Alzheimer's disease (AD) is a degenerative disorder involving the nervous system that usually affects people aged 65 and over. Both AMD and AD are age-related, degenerative conditions that have several similarities and share many of the same risk factors such as vascular conditions like arteriosclerosis, high blood pressure and obesity. It is believed that the early emergence of the clinical manifestations of AMD and AD may also be significantly influenced by oxidative stress and genetic polymorphism in complement factor H. A common pathogenic pathway between AD and AMD is quite likely. Amyloid-β is an aberrant protein that accumulates within the brains of Alzheimer's patients and appears as plaques on magnetic resonance imaging (MRI). These plaques are a pathognomonic sign of Alzheimer's disease. Similar to this, amyloid-β deposits are reported to build up beneath the retina of AMD patients, which appear as tiny clusters of protein-lipid substances known as drusen. It has also been found that individuals suffering from AMD exhibit an increased chance of developing AD than those with no AMD.
PubMed: 36938233
DOI: 10.7759/cureus.34920 -
Quantitative Imaging in Medicine and... Dec 2020Despite the growing use of computed tomography (CT) and magnetic resonance imaging (MRI) in the study of spinal disorders, radiography still plays an important role in... (Review)
Review
Despite the growing use of computed tomography (CT) and magnetic resonance imaging (MRI) in the study of spinal disorders, radiography still plays an important role in many conditions affecting the spine. However, the study and interpretation of spine radiograph is receiving less attention and radiologists are increasingly unfamiliar with the typical findings in normal and pathologic conditions of the spine. The aim of this article is to review the radiologic indications of radiograph in different pathologic conditions that affect the spine, including congenital, traumatic, degenerative, inflammatory, infectious and tumour disorders, as well as their main radiographic manifestations.
PubMed: 33269230
DOI: 10.21037/qims-20-1014 -
Journal of Cardiothoracic and Vascular... Jan 2022Hemophilia is an X-linked, recessive bleeding disorder. Improvements in factor replacement therapy and overall approach to hemophilia management have increased the... (Review)
Review
Hemophilia is an X-linked, recessive bleeding disorder. Improvements in factor replacement therapy and overall approach to hemophilia management have increased the lifespan and quality of life for patients with hemophilia. Thus, they are presenting for cardiac surgery related to age-related atherosclerosis, vascular disorders, and degenerative valvular disease. Although challenging, cardiac surgery can be performed safely with appropriate planning, using a multidisciplinary approach. This article provides a narrative review and framework for the perioperative management of patients with hemophilia A and B undergoing cardiac surgery.
Topics: Cardiac Surgical Procedures; Factor VIII; Hemophilia A; Humans; Quality of Life
PubMed: 33082094
DOI: 10.1053/j.jvca.2020.09.118 -
Brain Sciences Jul 2021Parkinson's disease (PD) is a progressive, degenerative disorder that affects 10 million people worldwide. More than 90% of individuals with PD develop hypokinetic... (Review)
Review
Parkinson's disease (PD) is a progressive, degenerative disorder that affects 10 million people worldwide. More than 90% of individuals with PD develop hypokinetic dysarthria, a motor speech disorder that impairs vocal communication and quality of life. Despite the prevalence of vocal deficits in this population, very little is known about the pathological mechanisms underlying this aspect of disease. As such, effective treatment options are limited. Rat models have provided unique insights into the disease-specific mechanisms of vocal deficits in PD. This review summarizes recent studies investigating vocal deficits in 6-hydroxydopamine (6-OHDA), alpha-synuclein overexpression, , and rat models of PD. Model-specific changes to rat ultrasonic vocalization (USV), and the effects of exercise and pharmacologic interventions on USV production in these models are discussed.
PubMed: 34356159
DOI: 10.3390/brainsci11070925 -
Parkinsonism & Related Disorders Jan 2021Infantile- and childhood-onset parkinsonism is mainly due to genetic alterations and is an exceedingly rare condition, unlike Parkinson's disease (PD), which is one of... (Review)
Review
Infantile- and childhood-onset parkinsonism is mainly due to genetic alterations and is an exceedingly rare condition, unlike Parkinson's disease (PD), which is one of the most common neurologic disorders in adulthood. The clinical characterization of parkinsonism during early stages of neuromotor development is controversial due to the lack of consensus regarding the clinical criteria of PD or parkinsonism in the immature brain. The classification here proposed is based on a review of conditions that emerge during infancy and childhood, with key symptoms evocative of adult parkinsonism. The proposed nosography is based on age at presentation, clinical features, outcome, and etiological background. It includes developmental parkinsonism, infantile degenerative parkinsonism, parkinsonism in the setting of neurodevelopmental disorders, parkinsonism in the setting of multisystem brain diseases, juvenile parkinsonism and dystonia-parkinsonism, and acquired parkinsonism. The subgroups denoting peculiar clinical presentations as a consequence of disease impact on the immature brain are developmental parkinsonism due to monoamine metabolic disorders and infantile degenerative parkinsonism caused by DAT and WASR2 defects. More tardive parkinsonisms occur in genetic conditions that cause a generalized derangement of neurodevelopmental processes, such as those due to MECP2, NR4A2, SCN1A, and RAB39B. Some conditions presenting with neurodevelopmental disorder can progress later, disclosing their neurodegenerative nature (i.e. WDR45 and KCND3). Finally, new emerging conditions with childhood-onset parkinsonism arise from the cumulative effect of multiple genetic lesions.
Topics: Adolescent; Child; Child, Preschool; Humans; Infant; Parkinsonian Disorders
PubMed: 33109474
DOI: 10.1016/j.parkreldis.2020.10.002 -
Journal of Cerebral Blood Flow and... Aug 2021Alzheimer's disease (AD) is a devastating neurological degenerative disorder and is the most common cause of dementia in the elderly. Clinically, AD manifests with... (Review)
Review
Alzheimer's disease (AD) is a devastating neurological degenerative disorder and is the most common cause of dementia in the elderly. Clinically, AD manifests with memory and cognitive decline associated with deposition of hallmark amyloid beta (Aβ) plaques and neurofibrillary tangles (NFTs). Although the mechanisms underlying AD remains unclear, two hypotheses have been proposed. The established amyloid hypothesis states that Aβ accumulation is the basis of AD and leads to formation of NFTs. In contrast, the two-hit vascular hypothesis suggests that early vascular damage leads to increased accumulation of Aβ deposits in the brain. Multiple studies have reported significant morphological changes of the cerebrovasculature which can result in severe functional deficits. In this review, we delve into known structural and functional vascular alterations in various mouse models of AD and the cellular and molecular constituents that influence these changes to further disease progression. Many studies shed light on the direct impact of Aβ on the cerebrovasculature and how it is disrupted during the progression of AD. However, more research directed towards an improved understanding of how the cerebrovasculature is modified over the time course of AD is needed prior to developing future interventional strategies.
Topics: Alzheimer Disease; Amyloid beta-Peptides; Animals; Cerebral Amyloid Angiopathy; Cerebrovascular Circulation; Disease Models, Animal; Mice, Transgenic; Neurofibrillary Tangles; Phenotype
PubMed: 33557692
DOI: 10.1177/0271678X21992462 -
Current Treatment Options in... 2021Valvular heart disease is prevalent in older athletes with primarily degenerative valvular disorders and younger athletes with congenital or genetic syndromes. Limited...
Valvular heart disease is prevalent in older athletes with primarily degenerative valvular disorders and younger athletes with congenital or genetic syndromes. Limited data exist on the risks and benefits of exercise for athletes with underlying valvular disorders, so current guidelines are primarily based upon expert consensus. This review focuses on the current data, guideline recommendations, and emerging clinical conundrums for athletes with common valvular heart conditions including aortic stenosis, bicuspid aortic valve (BAV), mitral regurgitation (MR), mitral valve prolapse (MVP), and thoracic aortic aneurysms.
PubMed: 35356384
DOI: 10.1007/s11936-021-00950-1 -
Methods in Molecular Biology (Clifton,... 2023Retinitis pigmentosa (RP) is the name for a group of phenotypically-related heritable retinal degenerative disorders. Many genes have been implicated as causing variants...
Retinitis pigmentosa (RP) is the name for a group of phenotypically-related heritable retinal degenerative disorders. Many genes have been implicated as causing variants of RP, and while the clinical phenotypes are remarkably similar, they may differ in age of onset, progression, and severity. Common inheritance patterns for specific genes connected with the development of the disorder include autosomal dominant, autosomal recessive, and X-linked. Modeling the disease in animals and other preclinical systems offers a cost-conscious, ethical, and time-efficient method for studying the disease subtypes. The history of RP models is briefly examined, and both naturally occurring and transgenic preclinical models of RP in many different organisms are discussed. Syndromic forms of RP and models thereof are reviewed as well.
Topics: Humans; Health Status; Retinitis Pigmentosa
PubMed: 36481897
DOI: 10.1007/978-1-0716-2651-1_19 -
International Journal of Environmental... Jul 2021Temporomandibular disorders (TMD) are a common reason for patients to present at dental offices. The majority of people with TMD are women between the age of 20 and 40...
BACKGROUND
Temporomandibular disorders (TMD) are a common reason for patients to present at dental offices. The majority of people with TMD are women between the age of 20 and 40 years. The purpose of this study was to assess the types and prevalence of temporomandibular disorders in female patients of reproductive age with menstrual disorders.
MATERIALS AND METHODS
The study involved 65 females of reproductive age (18-40 years, an average of 28.00 ± 6.27 years). The women who qualified for the study were patients of the University Center for Maternal and Newborn's Health hospitalized because of infertility or menstrual cycle disorders. Women with confirmed estrogen metabolism disorders participated in a clinical study with the use of Diagnostic Criteria for Temporomandibular Disorders (DC/TMD).
RESULTS
In the studied female patients with menstrual disorders, temporomandibular disorders (92.3%) were frequent occurrences. The most common type was intra-articular joint disorders (68%). Other reported complaints included masticatory muscle pain (44.62%), and degenerative joint diseases (12.3%).
CONCLUSIONS
1. In women with menstrual disorders, TMD may exist. 2. In women with TMD symptoms, their medical history should be extended to include the diagnosis of female hormone disorders.
Topics: Adult; Facial Pain; Female; Humans; Infant, Newborn; Male; Masticatory Muscles; Menstruation Disturbances; Myalgia; Prevalence; Temporomandibular Joint Disorders; Young Adult
PubMed: 34299715
DOI: 10.3390/ijerph18147263 -
Handbook of Clinical Neurology 2021This chapter brings the powerful conceptual tools of the science of parallel distributed processing (PDP) to bear on the cognitive neuroscience of emotions discussed in... (Review)
Review
This chapter brings the powerful conceptual tools of the science of parallel distributed processing (PDP) to bear on the cognitive neuroscience of emotions discussed in this book. Cerebral representations are encoded as patterns of activity involving billions of neurons. PDP across these neuronal populations provides the basis for a number of emergent properties: (1) processing occurs and knowledge (long term memories) is stored (as synaptic connection strengths) in exactly the same networks; (2) networks have the capacity for setting into stable attractor states corresponding to concepts, symbols, implicit rules, or data transformations; (3) networks provide the scaffold for the acquisition of knowledge, but knowledge is acquired through experience; (4) PDP networks are adept at incorporating the statistical regularities of experience as well as frequency and age of acquisition effects; (5) networks enable content-addressable memory; (6) because knowledge is distributed throughout networks, they exhibit the property of graceful degradation; (7) networks intrinsically provide the capacity for inference. With this perspective, I propose a new model of emotional function that reasonably accounts for the effects of focal lesions at various points (insula, orbitofrontal cortex, convexity cortex, and intervening white matter) due to stroke, trauma, surgery, and degenerative disease, as reflected in disorders of affective prosody, facial emotional comprehension and expression, emotional behavior, and personality. I consider a modification of the James Lange theory that takes into account the role of a lifetime of subjective knowledge acquisition by the orbitofrontal cortex. Alexithymia is conceptualized as a disorder of the insula/orbitofrontal cortex/dorsolateral prefrontal cortex (DL-PFC) system, the function of which can be disrupted by degradation of knowledge at a number of different locations. Finally, I consider the possibility that depression reflects pathological learning involving the medial and lateral orbitofrontal cortices such that there is a pathologic engagement of the two regions, as suggested by Rolls. I conclude with a consideration of the peculiar responsivity of depression to serotonergic and noradrenergic agents, as well as to surgical orbitofrontal undercutting, and what that might be telling us about the mechanisms of depression and its treatment.
Topics: Affective Symptoms; Brain Mapping; Depression; Emotions; Humans; Magnetic Resonance Imaging; Prefrontal Cortex
PubMed: 34389124
DOI: 10.1016/B978-0-12-822290-4.00014-1