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International Journal of Molecular... Oct 2023The use of animal models of human disease is critical for furthering our understanding of disease mechanisms, for the discovery of novel targets for treatment, and for...
The use of animal models of human disease is critical for furthering our understanding of disease mechanisms, for the discovery of novel targets for treatment, and for translational research. This Special Topic entitled "Animal Models of Human Disease" aimed to collect state-of-the-art primary research studies and review articles from international experts and leading groups using animal models to study human diseases. Submissions were welcomed on a wide range of animal models and pathologies, including infectious disease, acute injury, regeneration, cancer, autoimmunity, degenerative and chronic disease. Seven participating MDPI journals supported the Special Topic, namely: , , , , , the , and the . In total, 46 papers were published in this Special Topic, with 37 full length original research papers, 2 research communications and 7 reviews. These contributions cover a wide range of clinically relevant, translatable, and comparative animal models, as well as furthering understanding of fundamental sciences, covering topics on physiological processes, on degenerative, inflammatory, infectious, autoimmune, neurological, metabolic, heamatological, hormonal and mitochondrial disorders, developmental processes and diseases, cardiology, cancer, trauma, stress, and ageing.
Topics: Animals; Humans; Publications; Translational Research, Biomedical; Mitochondrial Diseases; Models, Animal; Communicable Diseases; Neoplasms
PubMed: 37958801
DOI: 10.3390/ijms242115821 -
BMC Musculoskeletal Disorders Oct 2019Degenerative lumbar spine disorders are common among musculoskeletal disorders. When disabling pain and radiculopathy persists after adequate course of rehabilitation... (Randomized Controlled Trial)
Randomized Controlled Trial
Effects of pre-surgery physiotherapy on walking ability and lower extremity strength in patients with degenerative lumbar spine disorder: Secondary outcomes of the PREPARE randomised controlled trial.
BACKGROUND
Degenerative lumbar spine disorders are common among musculoskeletal disorders. When disabling pain and radiculopathy persists after adequate course of rehabilitation and imaging confirms compressive pathology, surgical decompression is indicated. Prehabilitation aiming to augment functional capacity pre-surgery may improve physical function and activity levels pre and post-surgery. This study aims to evaluate the effect and dose-response of pre-surgery physiotherapy on quadriceps femoris strength and walking ability in patients with degenerative lumbar spine disorders compared to waiting-list controls and their association with postoperative physical activity level.
METHOD
In this single blinded, 2-arm randomised controlled trial, 197 patients were consecutively recruited. Inclusion criteria were: MRI confirmed diagnosis and scheduled for surgery due to disc herniation, lumbar spinal stenosis, degenerative disc disease or spondylolisthesis, ages 25-80 years. Patients were randomised to 9 weeks of pre-surgery physiotherapy or to waiting-list. Patient reported physical activity level, walking ability according to Oswestry Disability Index item 4, walking distance according to the SWESPINE national register and physical outcome measures including the timed ten-meter walk test, maximum voluntary isometric quadriceps femoris muscle strength, patient-rated were collected at baseline and follow-up. Parametric or non-parametric within and between group comparisons as well as multivariate regression was performed.
RESULTS
Patients who received pre-surgery physiotherapy significantly improved in all variables from baseline to follow-up (p < 0.001 - p < 0.05) and in comparison to waiting-list controls (p < 0.001 - p < 0.028). Patients adhering to ≥12 treatment sessions significantly improved in all variables (p < 0.001 - p < 0.032) and those receiving 0-11 treatment session in only normal walking speed (p0.035) but there were no significant differences when comparing dosages. Physical outcome measures after pre-surgery physiotherapy together significantly explain 27.5% of the variation in physical activity level 1 year after surgery with pre-surgery physical activity level having a significant multivariate association.
CONCLUSION
Pre-surgery physiotherapy increased walking ability and lower extremity strength in patients with degenerative lumbar spine disorders compared to waiting-list controls. A clear treatment dose-response response relationship was not found. These results implicate that pre-surgery physiotherapy can influence functional capacity before surgical treatment and has moderate associations with maintained postoperative physical activity levels mostly explained by physical activity level pre-surgery.
TRIAL REGISTRATION
NCT02454400 . Trial registration date: August 31st 2015, retrospectively registered.
Topics: Adult; Aged; Aged, 80 and over; Exercise Therapy; Female; Humans; Lower Extremity; Lumbar Vertebrae; Male; Middle Aged; Muscle Strength; Neurodegenerative Diseases; Physical Therapy Modalities; Preoperative Care; Single-Blind Method; Treatment Outcome; Walking
PubMed: 31651299
DOI: 10.1186/s12891-019-2850-3 -
Psychiatria Polska Oct 2022Dementia affects a significant portion of the population of elderly people and thus has become one of the most important health problems. At the same time, people with... (Review)
Review
Dementia affects a significant portion of the population of elderly people and thus has become one of the most important health problems. At the same time, people with dementia are more likely to be also affected by concomitant diseases. Cardiovascular factors seem to be of particular importance. It has been shown that problems regarding blood pressure as well as lipid and carbohydrate metabolism play a crucial role for the rate of cognitive deterioration in elderly individuals in both vascular cognitive impairments and primary degenerative impairments (e.g., Alzheimer's disease). A clear relationship is observed between vascular pathology and degenerative processes in the brain. The period of life in which the exposure to cardiovascular factors occurs seems to be key, and these relationships are best documented in middle age. With aging, their importance as factors accelerating the progression of cognitive impairments seems to diminish, especially in Alzheimer-type dementia. Research on the importance of comorbidity in dementia processes may be crucial for the development of prevention and therapy programs for dementia.
Topics: Middle Aged; Humans; Aged; Alzheimer Disease; Cognition Disorders; Cognitive Dysfunction; Brain; Comorbidity
PubMed: 37074852
DOI: 10.12740/PP/150052 -
Brain : a Journal of Neurology Dec 2023Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive neurodegenerative disease, usually caused by biallelic AAGGG repeat...
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive neurodegenerative disease, usually caused by biallelic AAGGG repeat expansions in RFC1. In this study, we leveraged whole genome sequencing data from nearly 10 000 individuals recruited within the Genomics England sequencing project to investigate the normal and pathogenic variation of the RFC1 repeat. We identified three novel repeat motifs, AGGGC (n = 6 from five families), AAGGC (n = 2 from one family) and AGAGG (n = 1), associated with CANVAS in the homozygous or compound heterozygous state with the common pathogenic AAGGG expansion. While AAAAG, AAAGGG and AAGAG expansions appear to be benign, we revealed a pathogenic role for large AAAGG repeat configuration expansions (n = 5). Long-read sequencing was used to characterize the entire repeat sequence, and six patients exhibited a pure AGGGC expansion, while the other patients presented complex motifs with AAGGG or AAAGG interruptions. All pathogenic motifs appeared to have arisen from a common haplotype and were predicted to form highly stable G quadruplexes, which have previously been demonstrated to affect gene transcription in other conditions. The assessment of these novel configurations is warranted in CANVAS patients with negative or inconclusive genetic testing. Particular attention should be paid to carriers of compound AAGGG/AAAGG expansions when the AAAGG motif is very large (>500 repeats) or the AAGGG motif is interrupted. Accurate sizing and full sequencing of the satellite repeat with long-read sequencing is recommended in clinically selected cases to enable accurate molecular diagnosis and counsel patients and their families.
Topics: Humans; Bilateral Vestibulopathy; Cerebellar Ataxia; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Syndrome; Vestibular Diseases
PubMed: 37450567
DOI: 10.1093/brain/awad240 -
Neural Regeneration Research Mar 2023Vision is an ability that depends on the precise structure and functioning of the retina. Any kind of stress or injury can disrupt the retinal architecture and leads to... (Review)
Review
Vision is an ability that depends on the precise structure and functioning of the retina. Any kind of stress or injury can disrupt the retinal architecture and leads to vision impairment, vision loss, and blindness. Immune system and immune response function maintain homeostasis in the microenvironment. Several genetic, metabolic, and environmental factors may alter retinal homeostasis, and these events may initiate various inflammatory cascades. The prolonged inflammatory state may contribute to the initiation and development of retinal disorders such as glaucoma, age-related macular degeneration, diabetic retinopathy, and retinitis pigmentosa, which pose a threat to vision. In the current review, we attempted to provide sufficient evidence on the role of inflammation in these retinal disorders. Moreover, this review paves the way to focus on therapeutic targets of the disease, which are found to be promising.
PubMed: 36018156
DOI: 10.4103/1673-5374.350192 -
Animals : An Open Access Journal From... Jan 2021Musculoskeletal injuries and chronic degenerative diseases commonly affect both athletic and sedentary horses and can entail the end of their athletic careers. The... (Review)
Review
Musculoskeletal injuries and chronic degenerative diseases commonly affect both athletic and sedentary horses and can entail the end of their athletic careers. The ensuing repair processes frequently do not yield fully functional regeneration of the injured tissues but biomechanically inferior scar or replacement tissue, causing high reinjury rates, degenerative disease progression and chronic morbidity. Regenerative medicine is an emerging, rapidly evolving branch of translational medicine that aims to replace or regenerate cells, tissues, or organs to restore or establish normal function. It includes tissue engineering but also cell-based and cell-free stimulation of endogenous self-repair mechanisms. Some regenerative medicine therapies have made their way into equine clinical practice mainly to treat tendon injures, tendinopathies, cartilage injuries and degenerative joint disorders with promising results. However, the qualitative and quantitative spatiotemporal requirements for specific bioactive factors to trigger tissue regeneration in the injury response are still unknown, and consequently, therapeutic approaches and treatment results are diverse. To exploit the full potential of this burgeoning field of medicine, further research will be required and is ongoing. This review summarises the current knowledge of commonly used regenerative medicine treatments in equine patients and critically discusses their use.
PubMed: 33477808
DOI: 10.3390/ani11010234