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Current Neurology and Neuroscience... Jul 2023Apraxia of speech (AOS) is a motor speech disorder that has long been recognized to occur secondary to acute neurologic insults and, more recently, to neurodegenerative... (Review)
Review
PURPOSE OF REVIEW
Apraxia of speech (AOS) is a motor speech disorder that has long been recognized to occur secondary to acute neurologic insults and, more recently, to neurodegenerative diseases as a harbinger for progressive supranuclear palsy and corticobasal syndrome. This article reviews recent findings regarding the clinic phenotypes of AOS, neuroimaging correlates, and the underlying disease processes.
RECENT FINDINGS
Two clinical subtypes of AOS map onto two underlying 4-repeat tauopathies. New imaging techniques have recently been applied to the study of progressive AOS. There is no data on the impact of behavioral intervention, although studies of nonfluent/agrammatic primary progressive aphasia that include patients with AOS suggest some benefit in speech intelligibility and maintenance. While recent findings suggest subtypes of AOS exist that are linked to molecular pathology and have important implications for disease progression, further research is needed to assess outcome of behavioral and other types of intervention.
Topics: Humans; Speech; Apraxias; Supranuclear Palsy, Progressive; Neuroimaging; Neurodegenerative Diseases
PubMed: 37269450
DOI: 10.1007/s11910-023-01275-1 -
Archives of Medical Research Jul 2023In humans, aging is characterized by a gradual decline of physical and psychological functions, with the concomitant onset of chronic-degenerative diseases, which... (Review)
Review
In humans, aging is characterized by a gradual decline of physical and psychological functions, with the concomitant onset of chronic-degenerative diseases, which ultimately lead to death. The study of Hutchinson-Gilford progeria syndrome (HGPS), a premature aging disorder that recapitulates several features of natural aging, has provided important insights into deciphering the aging process. The genetic origin of HGPS is a de novo point mutation in the LMNA gene that drives the synthesis of progerin, mutant version of lamin A. Progerin is aberrantly anchored to the nuclear envelope disrupting a plethora of molecular processes; nonetheless, how progerin exerts a cascade of deleterious alterations at the cellular and systemic levels is not fully understood. Over the past decade, the use of different cellular and animal models for HGPS has allowed the identification of the molecular mechanisms underlying HGPS, paving the way towards the development of therapeutic treatments against the disease. In this review, we present an updated overview of the biology of HGPS, including its clinical features, description of key cellular processes affected by progerin (nuclear morphology and function, nucleolar activity, mitochondrial function, protein nucleocytoplasmic trafficking and telomere homeostasis), as well as discussion of the therapeutic strategies under development.
Topics: Animals; Humans; Progeria; Aging; Mitochondria
PubMed: 37390702
DOI: 10.1016/j.arcmed.2023.06.002 -
Journal of Clinical Medicine Jun 2023Temporomandibular disorders (TMDs) encompass a diverse array of conditions affecting both the structure and function of the jaw. The aetiology of TMDs is multifactorial... (Review)
Review
Temporomandibular disorders (TMDs) encompass a diverse array of conditions affecting both the structure and function of the jaw. The aetiology of TMDs is multifactorial and may arise from muscular and joint disorders, degenerative processes, or a combination of various symptoms. The objective of this review was to analyse the physiotherapy treatment techniques used for the management of temporomandibular disorders. This review also aimed to compare the effectiveness of the differenttreatment methods used and identify the dysfunctions for which physiotherapy interventions are applied as the main treatment. A systematic literature review was conducted using the PubMed, ScienceDirect, Dialnet, and PEDro databases. After applying the inclusion criteria, 15 out of 656 articles were included. The application of different physiotherapy techniques, both alone and in combination, is effective in controlling the primary symptoms of TMD in patients. These symptoms include pain, functionality, and quality of life. The use of physiotherapy as a conservative intervention method for TMDs is supported by sufficient scientific evidence. The combination of different therapies within physiotherapy achieves the best results in treatment. Therapeutic exercise protocols, in combination with manual therapy techniques, are the most commonly utilized method for addressing TMDs and thus provide the best results according to the analysed studies.
PubMed: 37373852
DOI: 10.3390/jcm12124156 -
Retina (Philadelphia, Pa.) Mar 2024The aim of this literature review was to summarize novel optical coherence tomography (OCT) imaging biomarkers that have recently been described in the literature and... (Review)
Review
PURPOSE
The aim of this literature review was to summarize novel optical coherence tomography (OCT) imaging biomarkers that have recently been described in the literature and are frequently encountered clinically.
METHODS
The literature was reviewed to identify novel OCT biomarkers reported to date. A descriptive summary of all terms and representative illustrations were provided to highlight the most relevant features.
RESULTS
Thirty-seven OCT terminologies were identified. The vitreomacular interface disorder group included the four stages of epiretinal membrane, macular pseudohole, tractional lamellar hole (LH), degenerative LH, cotton ball sign, and foveal crack sign. The age-related macular degeneration group included outer retinal tubulation, multilayered pigment epithelial detachment, prechoroidal cleft, onion sign, double-layer sign, complete outer retinal atrophy, complete retinal pigment epithelium and outer retinal atrophy, and reticular pseudodrusen. The uveitic disorder group consisted of bacillary layer detachment, syphilis placoid, rain-cloud sign, and pitchfork sign. The disorders relating to the toxicity group included flying saucer sign and mitogen-activated protein kinase (MEK) inhibitor-associated retinopathy. The disorders associated with the systemic condition group included choroidal nodules and needle sign. The pachychoroid spectrum group included pachychoroid and brush border pattern. The vascular disorder group included pearl necklace sign, diffuse retinal thickening, disorganization of retinal inner layers, inner nuclear layer microcysts, hyperreflective retinal spots, paracentral acute middle maculopathy, and acute macular neuroretinopathy. The miscellaneous group included omega sign (ω), macular telangiectasia (type 2), and omega sign (Ω).
CONCLUSIONS
Thirty-seven OCT terminologies were summarized, and detailed illustrations consolidating the features of each biomarker were included. A nuanced understanding of OCT biomarkers and their clinical significance is essential because of their predictive and prognostic value.
Topics: Humans; Tomography, Optical Coherence; Epiretinal Membrane; Uveitis; Retinal Drusen; Biomarkers; Atrophy; Retrospective Studies
PubMed: 37903455
DOI: 10.1097/IAE.0000000000003974 -
Drug Design, Development and Therapy 2023Degenerative eye conditions such as age-related macular degeneration (AMD), diabetic retinopathy, and retinal vein occlusion are major contributors to significant vision... (Review)
Review
Degenerative eye conditions such as age-related macular degeneration (AMD), diabetic retinopathy, and retinal vein occlusion are major contributors to significant vision loss in developed nations. The primary therapeutic approach for managing complications linked to these diseases involves the intravitreal delivery of anti-vascular endothelial growth factor (VEGF) treatments. Faricimab is a novel, humanised, bispecific antibody that simultaneously binds all VEGF-A isoforms and Angiopoietin-2, which has been approved by regulatory agencies, such as the US Food and Drug Administration (FDA), the UK Medicines and Healthcare products Regulatory Agency (MHRA) and the European Medicines Agency (EMA), for the treatment of neovascular AMD and diabetic macular oedema (DMO). Intravitreal faricimab holds the promise of reducing the treatment burden for patients with these conditions by achieving comparable or superior therapeutic outcomes with fewer clinic visits. The scope of faricimab's application includes addressing complex macular conditions such as DMO. This review intends to elucidate the distinctive pharmacological characteristics of faricimab and provide an overview of the key clinical trials and real-world studies that assess its effectiveness and safety in treating degenerative macular diseases.
Topics: Humans; Vascular Endothelial Growth Factor A; Ranibizumab; Angiogenesis Inhibitors; Bevacizumab; Receptors, Vascular Endothelial Growth Factor; Visual Acuity; Wet Macular Degeneration; Macular Edema; Diabetic Retinopathy; Intravitreal Injections
PubMed: 37746113
DOI: 10.2147/DDDT.S427416