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Acta Bio-medica : Atenei Parmensis Jun 2022Alkaptonuria is a rare disease characterized by the accumulation of homogentisic acid (HGA). Over time, these patients may develop disabling ochronotic arthropathy. We...
BACKGROUND AND OBJECTIVE
Alkaptonuria is a rare disease characterized by the accumulation of homogentisic acid (HGA). Over time, these patients may develop disabling ochronotic arthropathy. We present 2 cases of patients with end-stage arthropathy treated with total knee arthroplasty (TKA).
METHODS
Both patients complained of disabling knee pain and reported limited walking distance (200-300 m). One had a history of osteotomy for medial knee arthtritis and ignored his underlying condition. The other presented with valgus gonoarthrosis and diagnosis of alkaptonuria.
RESULTS
Intraoperatively, the characteristic dark-blue color in the joint was observed. Both patients evolved favorably after TKA with excellent results according to the Knee Society Scores (KSS) at three years of follow-up.
CONCLUSION
We believe TKA is the right treatment for patients with end-stage disease because it offers considerable relief from pain and allows patients to recover function.
Topics: Alkaptonuria; Arthroplasty, Replacement, Knee; Humans; Joint Diseases; Ochronosis; Pain
PubMed: 35671127
DOI: 10.23750/abm.v92iS1.10439 -
BMC Musculoskeletal Disorders Jul 2022Arthrofibrosis, or rigid contracture of major articular joints, is a significant morbidity of many neurodegenerative disorders. The pathogenesis depends on the mechanism... (Review)
Review
Arthrofibrosis, or rigid contracture of major articular joints, is a significant morbidity of many neurodegenerative disorders. The pathogenesis depends on the mechanism and severity of the precipitating neuromuscular disorder. Most neuromuscular disorders, whether spastic or hypotonic, culminate in decreased joint range of motion. Limited range of motion precipitates a cascade of pathophysiological changes in the muscle-tendon unit, the joint capsule, and the articular cartilage. Resulting joint contractures limit functional mobility, posing both physical and psychosocial burdens to patients, economic burdens on the healthcare system, and lost productivity to society. This article reviews the pathophysiology of arthrofibrosis in the setting of neuromuscular disorders. We describe current non-surgical and surgical interventions for treating arthrofibrosis of commonly affected joints. In addition, we preview several promising modalities under development to ameliorate arthrofibrosis non-surgically and discuss limitations in the field of arthrofibrosis secondary to neuromuscular disorders.
Topics: Contracture; Fibrosis; Humans; Joint Capsule; Joint Diseases; Joints; Knee Joint; Range of Motion, Articular
PubMed: 35906570
DOI: 10.1186/s12891-022-05677-z -
Clinical and Experimental Rheumatology 2018Musculoskeletal symptoms are among the most common manifestations in patients with systemic lupus erythematosus (SLE), being reported in up to 95% of patients; joint and... (Review)
Review
Musculoskeletal symptoms are among the most common manifestations in patients with systemic lupus erythematosus (SLE), being reported in up to 95% of patients; joint and tendon involvement can range from arthralgia to severe deforming arthropathy; while myositis a rare manifestation, comorbid fibromyalgia is reported in up to 40% of SLE patients. All these manifestations have a significant impact on the patients' quality of life, possibly leading to disability and functional impairment in daily living activities. In recent years, thanks to the availability of new imaging techniques for the assessment of tendon and joint pathologies, the approach to the definition and characterisation of these manifestations in SLE is constantly evolving. In this review we will therefore illustrate the state of the art of imaging techniques in the assessment of joint involvement in SLE, focusing on ultrasounds (US) and magnetic resonance (MRI), discussing their advantages, drawbacks and possible future developments. The main findings that emerge from the recent literature is that imaging studies may allow a more accurate definition of disease subtypes revealing an unexpected higher prevalence of joint and tendon involvement with respect to what known by clinical evaluation and standard radiography. Indeed, US and MRI also made possible the identification of joints and tendons pathologies in patients with no or very mild clinical symptoms. On the other hand, the interpretation of some findings remains uncertain, as well as the validity and feasibility of this analysis in clinical practice. Thus, further studies should clarify the clinical meaning of subclinical abnormalities detected in US and MRI scans and their impact on the long-term outcomes.
Topics: Humans; Joint Diseases; Joints; Lupus Erythematosus, Systemic; Magnetic Resonance Imaging; Predictive Value of Tests; Prognosis; Reproducibility of Results; Rheumatology; Severity of Illness Index; Ultrasonography
PubMed: 30296972
DOI: No ID Found -
Annals of the Rheumatic Diseases Nov 1985
Topics: Amyloid; Amyloidosis; Humans; Joint Diseases; Renal Dialysis
PubMed: 4062385
DOI: 10.1136/ard.44.11.727 -
Orthopaedics & Traumatology, Surgery &... Dec 2017Antero-lateral ankle impingement syndrome (ALAIS) is a well-established clinical entity that is a common consequence of ankle sprains. Injury to the anterior... (Review)
Review
Antero-lateral ankle impingement syndrome (ALAIS) is a well-established clinical entity that is a common consequence of ankle sprains. Injury to the anterior talo-fibular ligament plays a key role in the genesis of ALAIS. Arthroscopic antero-lateral synovectomy is the standard of care. However, this treatment approach may deserve to be challenged, as it does not include any procedure on the ligaments, despite the presence in some patients of lateral rotational micro-instability of the ankle, without objective laxity. Consequently, we reviewed current data on ALAIS and its links to ankle instability, from the dual perspective of diagnosis and treatment.
Topics: Ankle Injuries; Ankle Joint; Arthroscopy; Humans; Joint Diseases; Joint Instability; Lateral Ligament, Ankle; Rotation; Synovectomy
PubMed: 28893616
DOI: 10.1016/j.otsr.2017.09.004 -
Cellular Physiology and Biochemistry :... 2018Exosomes are a subset of small, membrane-bound extracellular vesicles that are important for communication among cells. They originate from the cell membrane during... (Review)
Review
Exosomes are a subset of small, membrane-bound extracellular vesicles that are important for communication among cells. They originate from the cell membrane during endocytic internalization, and are stable in biological fluids, including blood and synovial fluids. Increasing knowledge is emerging about exosomes in joint diseases, including osteoarthritis, rheumatoid arthritis, osteonecrosis of the femoral head, and others. Exosomes in synovial fluid can lead to inflammation, degeneration of cartilage, and destruction of joints. Exosomes in blood have diagnostic value in the early disease stage or for complicated conditions of joint diseases. Exosomes from stem cells could delay diseases and repair joints. For a comprehensive understanding about the emerging role of exosomes in joint diseases, we introduced the isolation and verification of exosomes from synovial fluid, reviewed the physiological and pathological effects of exosomes on joints, and discussed the diagnostic value and therapeutic potential of exosomes in joint diseases. In the future, immunologically active exosomes and engineered exosomes will of interest in the joint diseases. Challenges in the field of exosomes in joint-disease research include complex and expensive isolation, detection of contributing molecular, effectiveness and safety evaluation. In summary, challenges remain, but the field of exosomes in joint diseases has potential, including in mechanisms, diagnoses and therapies.
Topics: Animals; Exosomes; Humans; Joint Diseases; Synovial Fluid
PubMed: 29969758
DOI: 10.1159/000491469 -
Experimental & Molecular Medicine Aug 2020As an essential nutrient and trace element, selenium is required for living organisms and its beneficial roles in human health have been well recognized. The role of... (Review)
Review
As an essential nutrient and trace element, selenium is required for living organisms and its beneficial roles in human health have been well recognized. The role of selenium is mainly played through selenoproteins synthesized by the selenium metabolic system. Selenoproteins have a wide range of cellular functions including regulation of selenium transport, thyroid hormones, immunity, and redox homeostasis. Selenium deficiency contributes to various diseases, such as cardiovascular disease, cancer, liver disease, and arthropathy-Kashin-Beck disease (KBD) and osteoarthritis (OA). A skeletal developmental disorder, KBD has been reported in low-selenium areas of China, North Korea, and the Siberian region of Russia, and can be alleviated by selenium supplementation. OA, the most common form of arthritis, is a degenerative disease caused by an imbalance in matrix metabolism and is characterized by cartilage destruction. Oxidative stress serves as a major cause of the initiation of OA pathogenesis. Selenium deficiency and dysregulation of selenoproteins are associated with impairments to redox homeostasis in cartilage. We review the recently explored roles of selenium metabolism and selenoproteins in cartilage with an emphasis on two arthropathies, KBD and OA. Moreover, we discuss the potential of therapeutic strategies targeting the biological functions of selenium and selenoproteins for OA treatment.
Topics: Animals; Cartilage; Homeostasis; Humans; Joint Diseases; Models, Biological; Selenium; Selenoproteins
PubMed: 32788658
DOI: 10.1038/s12276-020-0408-y -
Clinical Orthopaedics and Related... May 2021
Topics: Biomechanical Phenomena; Congresses as Topic; Hip Joint; Humans; Joint Diseases; Orthopedic Procedures; Range of Motion, Articular; Recovery of Function; Treatment Outcome
PubMed: 33844666
DOI: 10.1097/CORR.0000000000001760 -
European Journal of Pharmaceutical... Sep 2022Bone and joint diseases are prevalent and often fatal conditions in elderly individuals. Additionally, bone-derived cells may release exosomes that package and... (Review)
Review
Bone and joint diseases are prevalent and often fatal conditions in elderly individuals. Additionally, bone-derived cells may release exosomes that package and distribute a range of active substances, such as proteins, miRNAs, and numerous active factors, thereby facilitating material and information interchange between cells. Exososmes generated from bone may be utilized to manage bone production and resorption balance or even as biological or gene therapy carriers, depending on their properties and composition. In this review, we will discuss the composition, secretion, and uptake theory of exososmes, the role of exososmes in bone metabolism regulation, the pathogenesis and diagnosis of bone and joint diseases, and the application of exososmes in regenerative medicine. The findings will expand our understanding of the potential research and application space regarding exososmes.
Topics: Aged; Exosomes; Humans; Joint Diseases; MicroRNAs
PubMed: 35850174
DOI: 10.1016/j.ejps.2022.106262 -
BMC Musculoskeletal Disorders Sep 2023Multicentric osteolysis nodulosis and arthropathy (MONA) is a rare autosomal recessive disorder characterized by marked progressive bone loss and joint destruction...
BACKGROUND
Multicentric osteolysis nodulosis and arthropathy (MONA) is a rare autosomal recessive disorder characterized by marked progressive bone loss and joint destruction resulting in skeletal deformities. MONA is caused by MMP2 deficiency. Here we report clinical and molecular analyses of four patients in two families from Pakistan and Finland.
METHODS
Clinical analyses including radiography were completed and blood samples were collected. The extracted DNA was subjected to whole-exome analysis or target gene sequencing. Segregation analyses were performed in the nuclear pedigree. Pathogenicity prediction scores for the selected variants and conservation analyses of affected amino acids were observed.
RESULTS
The phenotype in the four affected individuals was consistent with multicentric osteolysis or MONA, as the patients had multiple affected joints, osteolysis of hands and feet, immobility of knee joint and progressive bone loss. Long-term follow up of the patients revealed the progression of the disease. We found a novel MMP2 c.1336 + 2T > G homozygous splice donor variant segregating with the phenotype in the Pakistani family while a MMP2 missense variant c.1188 C > A, p.(Ser396Arg) was homozygous in both Finnish patients. In-silico analysis predicted that the splicing variant may eventually introduce a premature stop codon in MMP2. Molecular modeling for the p.(Ser396Arg) variant suggested that the change may disturb MMP2 collagen-binding region.
CONCLUSION
Our findings expand the genetic spectrum of Multicentric osteolysis nodulosis and arthropathy. We also suggest that the age of onset of this disorder may vary from childhood up to late adolescence and that a significant degree of intrafamilial variability may be present.
Topics: Adolescent; Humans; Child; Hajdu-Cheney Syndrome; Matrix Metalloproteinase 2; Joint Diseases; Osteolysis
PubMed: 37710205
DOI: 10.1186/s12891-023-06856-2