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Current Neurology and Neuroscience... Jul 2019In this review, we aim to describe the main sleep disorders observed in patients with different forms of hereditary ataxias and discuss the main pathophysiological... (Review)
Review
PURPOSE OF REVIEW
In this review, we aim to describe the main sleep disorders observed in patients with different forms of hereditary ataxias and discuss the main pathophysiological mechanisms.
RECENT FINDINGS
Several pathological studies have demonstrated that the degenerative process in patients with hereditary ataxias may involve not only the cerebellum, but also other areas of the nervous system, and explain noncerebellar symptoms, such as sleep disorders. Hereditary ataxias are neurodegenerative disorders with heterogeneous genetic and clinical presentation. This group of diseases usually affects other areas of the nervous system, besides the cerebellum, and noncerebellar signs and symptoms may occur, such as sleep disorders. The main sleep disorders related to hereditary ataxias include REM sleep behavior disorder, insomnia, excessive daytime sleepiness, obstructive and central sleep apnea, periodic leg movement in sleep, and restless legs syndrome.
Topics: Cerebellum; Humans; REM Sleep Behavior Disorder; Restless Legs Syndrome; Sleep; Sleep Initiation and Maintenance Disorders; Sleep Wake Disorders; Spinocerebellar Degenerations
PubMed: 31342187
DOI: 10.1007/s11910-019-0968-1 -
Biomedicine & Pharmacotherapy =... Oct 2023Lipid metabolism is a complex process that maintains the normal physiological function of the human body. The disorder of lipid metabolism has been implicated in various... (Review)
Review
Lipid metabolism is a complex process that maintains the normal physiological function of the human body. The disorder of lipid metabolism has been implicated in various human diseases, such as cardiovascular diseases and bone diseases. Intervertebral disc degeneration (IDD), an age-related degenerative disease in the musculoskeletal system, is characterized by high morbidity, high treatment cost, and chronic recurrence. Lipid metabolism disorder may promote the pathogenesis of IDD, and the potential mechanisms are complex. Leptin, resistin, nicotinamide phosphoribosyltransferase (NAMPT), fatty acids, and cholesterol may promote the pathogenesis of IDD, while lipocalin, adiponectin, and progranulin (PGRN) exhibit protective activity against IDD development. Lipid metabolism disorder contributes to extracellular matrix (ECM) degradation, cell apoptosis, and cartilage calcification in the intervertebral discs (IVDs) by activating inflammatory responses, endoplasmic reticulum (ER) stress, and oxidative stress and inhibiting autophagy. Several lines of agents have been developed to target lipid metabolism disorder. Inhibition of lipid metabolism disorder may be an effective strategy for the therapeutic management of IDD. However, an in-depth understanding of the molecular mechanism of lipid metabolism disorder in promoting IDD development is still needed.
Topics: Humans; Intervertebral Disc Degeneration; Lipid Metabolism; Lipid Metabolism Disorders; Adiponectin; Apoptosis
PubMed: 37651799
DOI: 10.1016/j.biopha.2023.115401 -
Seminars in Cell & Developmental Biology Jul 2018Split gene architecture of most human genes requires removal of intervening sequences by mRNA splicing that occurs on large multiprotein complexes called spliceosomes.... (Review)
Review
Split gene architecture of most human genes requires removal of intervening sequences by mRNA splicing that occurs on large multiprotein complexes called spliceosomes. Mutations compromising several spliceosomal components have been recorded in degenerative syndromes and haematological neoplasia, thereby highlighting the importance of accurate splicing execution in homeostasis of assorted adult tissues. Moreover, insufficient splicing underlies defective development of craniofacial skeleton and upper extremities. This review summarizes recent advances in the understanding of splicing factor function deduced from cryo-EM structures. We combine these data with the characterization of splicing factors implicated in hereditary or somatic disorders, with a focus on potential functional consequences the mutations may elicit in spliceosome assembly and/or performance. Given aberrant splicing or perturbations in splicing efficiency substantially underpin disease pathogenesis, profound understanding of the mis-splicing principles may open new therapeutic vistas. In three major sections dedicated to retinal dystrophies, hereditary acrofacial syndromes, and haematological malignancies, we delineate the noticeable variety of conditions associated with dysfunctional splicing and accentuate recurrent patterns in splicing defects.
Topics: Animals; Cryoelectron Microscopy; Disease; Humans; Mutation; Protein Conformation; RNA Precursors; RNA Splicing; Ribonucleoproteins, Small Nuclear; Spliceosomes
PubMed: 29037818
DOI: 10.1016/j.semcdb.2017.10.011 -
The British Journal of Radiology Feb 2017Ankle impingement syndromes encompass a broad spectrum of post-traumatic and chronic degenerative changes that present with pain on specific movements about the ankle... (Review)
Review
Ankle impingement syndromes encompass a broad spectrum of post-traumatic and chronic degenerative changes that present with pain on specific movements about the ankle joint. Both amateur and professional athletes are disproportionately affected by these conditions, and while conservative measures can potentially treat an impingement syndrome, definitive therapy is often alleviated surgically. Imaging (including conventional radiography, ultrasound, CT and MRI) plays an invaluable role in the diagnosis and pre-surgical work-up. An anatomically based classification system is useful in these syndromes, as the aetiology, sites of pathology and preferred treatment methods are similarly based on anatomic locations about the ankle. This review focuses on the anatomic locations, pathophysiology, imaging considerations and brief discussion of therapies for each of the major anatomic ankle impingement syndromes.
Topics: Adult; Ankle Injuries; Ankle Joint; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Range of Motion, Articular; Syndrome; Tomography, X-Ray Computed; Ultrasonography; Young Adult
PubMed: 27885856
DOI: 10.1259/bjr.20160735 -
Zeitschrift Fur Orthopadie Und... Jun 2016Gluteal tendinopathy as well as partial and full-thickness tears of gluteal tendons (gluteus minimus and/or medius tendon) were underestimated as a cause of chronic pain... (Review)
Review
Gluteal tendinopathy as well as partial and full-thickness tears of gluteal tendons (gluteus minimus and/or medius tendon) were underestimated as a cause of chronic pain in the past, and treatment was most commonly based on the diagnosis of trochanteric bursitis. Tendinous pathologies can either stay asymptomatic or cause pain and muscular dysfunction, not necessarily being associated with osteoarthritis of the hip 1. As the terminus "rotator cuff tear of the hip" was published in 1997 2, its aetiopathogenesis was reconsidered, resulting in improvements in diagnosis and treatment. Nevertheless the adoption of those findings into clinical daily routine took time 3. Ultrasound and magnetic resonance imaging (MRI) as well as histopathologic examination questioned the relevance of acute bursitis being the only cause of greater trochanteric pain 4, 5, 6, while emphasizing degenerative tendinopathy causing those symptoms 6, 7, 8. The terminus "greater trochanteric pain syndrome" (GTPS) should hereby also include further pathologies, e.g. calcific tendinitis 1, 5. GTPS affects about 10-25 % of the adult population 5. Ultrasound and MRI are reliable, non-invasive methods for detecting tendinous and bursal pathologies 7, 8, 9; in 88 % of all patients with trochanteric pain, MRI gives pathological findings 10. Nevertheless, in 50 % of suspicious pertrochanteric pathologies, patients are free of symptoms 1, 10. In patients undergoing total hip arthroplasty, the incidence of intraoperative macroscopically identified gluteal tendon tears reaches up to 22 % 2, 11, 12, 13. Tendinous tears cause pain and constrained muscular function. Sole traumatic tears are rare, most commonly they are based on pre-existing defects. Tendinosis and partial tears are primarily treated conservatively. Hereby, therapeutic options are similar to those for rotator cuff pathologies of the shoulder. Topical infiltration of corticosteroids and physical therapy offer good results especially in early stages. The effectiveness of extracorporeal shock wave therapy has also been proven 14. Surgical intervention is necessary in case of non-responsiveness to treatment or loss of gluteal muscular function. Hereby, the open gluteal repair always represented the method of choice, whereas recently, users of endoscopic systems reported similar or even better outcomes 15, 16, 17, 18, 19, 20, 21.
Topics: Adrenal Cortex Hormones; Buttocks; Combined Modality Therapy; Evidence-Based Medicine; Humans; Injections, Intramuscular; Physical Therapy Modalities; Syndrome; Tendinopathy; Tendon Injuries; Tenotomy; Treatment Outcome
PubMed: 27351165
DOI: 10.1055/s-0042-105401 -
Biomedicine & Pharmacotherapy =... Dec 2023Degenerative musculoskeletal disorders are a group of age-related diseases of the locomotive system that severely affects the patient's ability to work and cause adverse... (Review)
Review
Degenerative musculoskeletal disorders are a group of age-related diseases of the locomotive system that severely affects the patient's ability to work and cause adverse sequalae such as fractures and even death. The incidence and prevalence of degenerative musculoskeletal disorders is rising owing to the aging of the world's population. The Notch signaling pathway, which is expressed in almost all organ systems, extensively regulates cell proliferation and differentiation as well as cellular fate. Notch signaling shows increased activity in degenerative musculoskeletal disorders and retards the progression of degeneration to some extent. The review focuses on four major degenerative musculoskeletal disorders (osteoarthritis, intervertebral disc degeneration, osteoporosis, and sarcopenia) and summarizes the pathophysiological functions of Notch signaling in these disorders, especially its role in stem/progenitor cells in each disorder. Finally, a conclusion will be presented to explore the research and application of the perspectives on Notch signaling in degenerative musculoskeletal disorders.
Topics: Humans; Intervertebral Disc Degeneration; Signal Transduction; Osteoarthritis; Aging; Osteoporosis
PubMed: 37981460
DOI: 10.1016/j.biopha.2023.115884 -
Clinical Neuroradiology Mar 2016Internal derangement is the most common temporomandibular joint disorder. Degenerative osteoarthritis and trauma are next in frequency. Less common pathology includes... (Review)
Review
Internal derangement is the most common temporomandibular joint disorder. Degenerative osteoarthritis and trauma are next in frequency. Less common pathology includes rheumatoid arthritis, synovial chondromatosis, calcium pyrophosphate dehydrate deposition disease, pigmented villonodular synovitis, tumors, infection, and osteonecrosis. We provide a systematic approach to facilitate interpretation based on major anatomic structures: disc-attachments, joint space, condyle, and lateral pterygoid muscle. Relevant graphic anatomy and state of the art imaging are discussed in correlation with current clinical and therapeutic highlights of pathologic entities affecting the joint.
Topics: Arthrography; Evidence-Based Medicine; Humans; Image Enhancement; Magnetic Resonance Imaging, Cine; Patient Positioning; Temporomandibular Joint; Temporomandibular Joint Disorders; Tomography, X-Ray Computed
PubMed: 26374243
DOI: 10.1007/s00062-015-0465-0 -
Nursing TimesWhile dementia is an umbrella term for a range of degenerative brain disorders, many share similar presentations. Nurses are ideally placed to identify those at risk and... (Review)
Review
While dementia is an umbrella term for a range of degenerative brain disorders, many share similar presentations. Nurses are ideally placed to identify those at risk and empower them to access treatment and plan and prepare for their future needs--as such, they need up-to-date knowledge of the signs and symptoms of the different types of dementia to identify risk factors and make an informed diagnosis. This article, the third in a four-part series on dementia, examines the risk factors, signs, symptoms and diagnosis of dementia, as well as outlining lifestyle factors such as diet and exercise that may help to prevent the development of the condition.
Topics: Alcohol Amnestic Disorder; Alzheimer Disease; Dementia; Dementia, Vascular; Early Diagnosis; Educational Status; Exercise; Feeding Behavior; Humans; Risk Factors; Risk Reduction Behavior; Smoking Cessation
PubMed: 27544960
DOI: No ID Found -
Regenerative Therapy Dec 2020Osteoarthritis () is the most common chronic musculoskeletal disorder. It can affect any joint and is the most frequent single cause of disability in older adults. is a... (Review)
Review
Osteoarthritis () is the most common chronic musculoskeletal disorder. It can affect any joint and is the most frequent single cause of disability in older adults. is a progressive degenerative disease involving the entire joint structure in a vicious circle that includes the capsule-bursa tissue inflammation, synovial fluid modifications, cartilage breakdown and erosions, osteochondral inflammatory damage leading to bone erosion and distortion. Research has identified the initial inflammatory-immunologic process that starts this vicious cycle leading to so-called Research has also identified the role played in the disease advancement by synoviocytes and , chondrocytes, extracellular matrix, local immune-inflammatory mediators and proteases. This article investigates the joint-resident that play an essential local homeostatic role and regulate cell turn over and tissue repair. Resident establish and maintain a local . The understanding of physiopathology clarifies the core mechanisms by which minimally invasive interventions might be able to halt and reverse the course of early stage . Interventions employing , and are considered in this article.
PubMed: 33426213
DOI: 10.1016/j.reth.2020.07.007 -
Handbook of Clinical Neurology 2021Degenerative dementias such as Alzheimer's disease and frontotemporal dementia result in distinct alterations in emotional processing, emotional experiences, and mood.... (Review)
Review
Degenerative dementias such as Alzheimer's disease and frontotemporal dementia result in distinct alterations in emotional processing, emotional experiences, and mood. The neuropathology of these dementias extends to structures involved in emotional processing, including the basolateral limbic network (orbitofrontal cortex, anterior temporal lobe, amygdala, and thalamus), the insula, and ventromedial frontal lobe. Depression is the most common emotion and mood disorder affecting patients with Alzheimer's disease. The onset of depression can be a prodromal sign of this dementia. Anxiety can also be present early in the course of Alzheimer's disease and especially among patients with early-onset forms of the disease. In contrast, patients with behavioral variant frontotemporal dementia demonstrate hypoemotionality, deficits in the recognition of emotion, and decreased psychophysiological reactivity to emotional stimuli. They typically have a disproportionate impairment in emotional and cognitive empathy. One other unique feature of behavioral variant frontotemporal dementia is the frequent occurrence of bipolar disorder. The management strategies for these alterations of emotion and mood in degenerative dementias primarily involve the judicious use of the psychiatric armamentarium of medications.
Topics: Alzheimer Disease; Emotions; Empathy; Frontotemporal Dementia; Humans; Magnetic Resonance Imaging; Mood Disorders; Neuropsychological Tests
PubMed: 34389121
DOI: 10.1016/B978-0-12-822290-4.00012-8