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1.
Front Pediatr ; 12: 1385938, 2024.
Article in English | MEDLINE | ID: mdl-38742240

ABSTRACT

Purpose: Camptodactyly, clasped thumbs, and windblown hands are distinctive features of distal arthrogryposis (DA). Current therapeutic interventions often yield suboptimal effects, predisposing patients to relapses and complications. This study explicates a corrective approach involving a progressive extension brace for the management of DA and evaluates its clinical outcomes. Methods: Between 2015 and 2023, progressive extension braces were used in 32 DA patients, with an average follow-up of 4.8 years. Patients were stratified by age into four groups: 0-1, 1-3, 3-7, and above 7 years. The correction of camptodactyly was assessed based on the total active movement (TAM) of metacarpophalangeal joints (MPJ) and proximal interphalangeal joints (PIPJ), as well as the extensor lag of PIPJ. Clasped thumb correction was evaluated by measuring the thumb-to-index finger metacarpal angle (M1M2 angle) and the degree of deviation at the first MPJ (M1P1 angle). The quality of life for the children was measured using PedsQL 4.0, while parental satisfaction was gauged using the FACE questionnaire. Results: Earlier intervention with a progressive extension brace yielded superior corrective results. Infants aged 0-1 year and toddlers aged 1-3 years achieved average TAM scores of 152° and 126° after correction; however, patients older than 3 years experienced a significant decrease in TAM with the same treatment. Infants and toddlers with DA showed improvement in the average extensor lag from 46° to 6°. The M1M2 angle increased from an average of 38° to 65°, with the M1P1 angle decreasing from an average of 43° to 5°. After the treatment, average PedsQL scores of 94.7 (parent-reported) and 89.3 (child-reported) were achieved. Among the 32 parents, 24 expressed high satisfaction, 5 expressed moderate satisfaction, and 3 expressed fair satisfaction. Conclusion: The early, progressive, and consistent use of an extension brace significantly improved joint mobility and corrected camptodactyly and clasped thumbs. It can be an effective approach to addressing hand deformities in patients with DA.

2.
Neurochem Int ; 157: 105342, 2022 07.
Article in English | MEDLINE | ID: mdl-35461975

ABSTRACT

Stress Granules (SGs) are RNA granules composed of untranslated mRNA and associated proteins, which are related to the cytoplasmic metabolism of mRNA in response to cellular stress and certain drug stimuli. Physiological SGs are dynamic structures that protect cells from the effects of stress, and continuous stress ripens the SGs into more stable complexes. Numerous studies have found that dysregulation of RNA metabolism in stress response led to misfolded protein aggregation in the pathophysiology of neurodegenerative diseases. For example, in neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), Alzheimer's disease (AD), and Parkinson's disease (PD), SGs aggregation is mainly due to up-regulation of SGs formation and down-regulation of SGs clearance. Recent studies have revealed the role of SGs in the pathogenesis and pathology of AD, especially the interaction of SGs and RNA-binding proteins with Tau and autophagy. Aggregation of SGs and increased RNA-binding proteins, especially TIA1, can facilitate Tau misfolding and propagation, and vice versa. Autophagy dysfunction disrupts the normal pathway of SGs clearance. In this review, we summarized the regulation of SGs and their relationship with Tau protein and autophagy, as well as the pathological mechanisms of AD such as RNA splicing, microglial cell proliferation and phagocytosis.


Subject(s)
Alzheimer Disease , Neurodegenerative Diseases , Alzheimer Disease/metabolism , Autophagy/physiology , Cytoplasmic Granules/genetics , Cytoplasmic Granules/metabolism , Cytoplasmic Granules/pathology , Humans , Neurodegenerative Diseases/metabolism , Phagocytosis , RNA, Messenger/metabolism , RNA-Binding Proteins/metabolism , Stress Granules , Stress, Physiological , tau Proteins/metabolism
3.
Int J Gen Med ; 14: 6201-6213, 2021.
Article in English | MEDLINE | ID: mdl-34616175

ABSTRACT

BACKGROUND: Metabolic syndrome (MS) has grown in recognition to contribute to the pathogenesis of osteoarthritis (OA), which is the most prevalent arthritis characterized by joint dysfunction. However, the specific mechanism between OA and MS remains unclear. METHODS: The gene expression profiles and clinical information data of OA and MS were retrieved from the Gene Expression Omnibus (GEO) database. The genes in the key module of MS were identified by weighted gene co-expression network analysis (WGCNA), which intersected with the differentially expressed genes (DEGs) between control and MS samples to obtain hub genes for MS. The potential functions and pathways of hub genes were detected through the Gene Ontology (GO) and Kyoto Encyclopedia of Gene and Genome (KEGG) analyses. The genes involved in the different KEGG pathways between the control and OA samples overlapped with the DEGs between the two groups via the Venn analysis to gain the hub genes for OA affected by MS (MOHGs). Additionally, the least absolute shrinkage and selection operator (LASSO) was performed on the MOHGs to establish a diagnostic model for each disease. RESULTS: A total of 61 hub genes for MS were identified that significantly enriched in platelet activation, complement and coagulation cascades, and hematopoietic cell lineage. Besides, 4 candidate genes (ELOVL7, F2RL3, GP9, and ITGA2B) were screened among the 6 MOHGs to construct a diagnostic model, showing good performance for distinguishing controls from patients with MS and OA. GSEA suggested that these diagnostic genes were closely associated with immune response, adipocytokine signaling, fatty acid metabolism, cell cycle, and platelet activation. CONCLUSION: Taken together, we identified 4 potential gene biomarkers for diagnosing MS and OA patients, providing a theoretical basis and reference for the diagnostics and treatment targets of MS and OA.

4.
Pak J Pharm Sci ; 30(5(Special)): 1899-1903, 2017 Sep.
Article in English | MEDLINE | ID: mdl-29084664

ABSTRACT

In recent years, the antioxidant efficacy of puerarin has been recognized. However, there is less research on Puerarin used in diabetes. This paper analyzes the effect of puerarin on type II diabetes mellitus induced by streptozotocin combined with orthopaedic footwear. In this study, 80 Sprague Dawley (SD) rats were fed with high fat and high sucrose diet for one month, and 1% streptozotocin (STZ) was used to induce type II diabetes mellitus. After 6 weeks aerobic exercise and puerarin intervention in rats, the effect of aerobic exercise and puerarin intervention on antioxidant ability in diabetic rats was investigated. The results showed that aerobic exercise and puerarin intervention can improve the insulin resistance in rats. Meanwhile, the annual incidence of foot ulcers in diabetic patients is 2%, while orthopaedic footwear can reduce the probability of diabetic foot ulcers. In general, exercise and puerarin intervention can really play a role in the prevention and treatment of diabetes, such as improving the metabolic status of diabetic patients and reducing their dependence on drugs.


Subject(s)
Diabetes Mellitus, Experimental/complications , Diabetes Mellitus, Experimental/drug therapy , Diabetic Foot/complications , Insulin Resistance , Isoflavones/therapeutic use , Orthopedics , Animals , Antioxidants , Blood Glucose/drug effects , Diabetic Foot/therapy , Diet, Carbohydrate Loading/adverse effects , Diet, High-Fat/adverse effects , Drugs, Chinese Herbal/therapeutic use , Insulin/blood , Malondialdehyde/blood , Physical Conditioning, Animal , Rats , Streptozocin , Superoxide Dismutase/blood
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