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In Vivo (Athens, Greece) 2021The aim of the review was to describe a complex microstructure and biomechanical properties of the articular cartilage as well as a current review of its pathologies... (Review)
Review
The aim of the review was to describe a complex microstructure and biomechanical properties of the articular cartilage as well as a current review of its pathologies encountered in veterinary practice. The articular cartilage with its unique features: complex microarchitecture, significant mechanical durability and elasticity, lacking blood, lymphatic vessels, and innervation, seems to stand in contradiction to the laws of biology. It can be involved in a vast majority of diseases, from osteoarthrosis as a result of natural aging process to more complex in nature like osteochondromatosis. The primary role of articular cartilage is to provide the surface for movement in any single joint in the body. Therefore, its diseases lead to physical impairment and deterioration of the quality of life. Treatment of articular cartilage poses a formidable challenge in both modern human and animal medicine.
Topics: Animals; Biomechanical Phenomena; Cartilage, Articular; Elasticity; Humans; Osteoarthritis; Quality of Life
PubMed: 33910813
DOI: 10.21873/invivo.12388 -
Orthopedic Research and Reviews 2019Hereditary multiple exostoses (HME), also called hereditary multiple osteochondromas, is a rare genetic disorder characterized by multiple osteochondromas that grow near... (Review)
Review
Hereditary multiple exostoses (HME), also called hereditary multiple osteochondromas, is a rare genetic disorder characterized by multiple osteochondromas that grow near the growth plates of bones such as the ribs, pelvis, vertebrae and especially long bones. The disease presents with various clinical manifestations including chronic pain syndromes, restricted range of motion, limb deformity, short stature, scoliosis and neurovascular alteration. Malignant transformation of exostosis is rarely seen. The disease has no medical treatment and surgery is only recommended in symptomatic exostoses or in cases where a malignant transformation is suspected. HME is mainly caused by mutations and functional loss of the EXT1 and EXT2 genes which encode glycosyltransferases, an enzyme family involved in heparan sulfate (HS) synthesis. However, the peculiar molecular mechanism that leads to the structural changes of the cartilage and to osteochondroma formation is still being studied. Basic science studies have recently shown new insights about altering the molecular and cellular mechanism caused by HS deficiency. Pediatricians, geneticists and orthopedic surgeons play an important role in the study and treatment of this severe pathology. Despite the recent significant advances, we still need novel insights to better specify the role of HS in signal transduction. The purpose of this review was to analyze the most relevant aspects of HME from the literature review, give readers an important tool to understand its clinical features and metabolic-pathogenetic mechanism, and to identify an effective treatment method. We focused on the aspects of the disease related to clinical management and surgical treatment in order to give up-to-date information that could be useful for following best clinical practice.
PubMed: 31853203
DOI: 10.2147/ORR.S183979 -
Frontiers in Genetics 2021Hereditary multiple exostoses (HMEs) syndrome, also known as multiple osteochondromas, represents a rare and severe human skeletal disorder. The disease is characterized... (Review)
Review
Hereditary multiple exostoses (HMEs) syndrome, also known as multiple osteochondromas, represents a rare and severe human skeletal disorder. The disease is characterized by multiple benign cartilage-capped bony outgrowths, termed exostoses or osteochondromas, that locate most commonly in the juxta-epiphyseal portions of long bones. Affected individuals usually complain of persistent pain caused by the pressure on neighboring tissues, disturbance of blood circulation, or rarely by spinal cord compression. However, the most severe complication of this condition is malignant transformation into chondrosarcoma, occurring in up to 3.9% of HMEs patients. The disease results mainly from heterozygous loss-of-function alterations in the or genes, encoding Golgi-associated glycosyltransferases, responsible for heparan sulfate biosynthesis. Some of the patients with HMEs do not carry pathogenic variants in those genes, hence the presence of somatic mutations, deep intronic variants, or another genes/loci is suggested. This review presents the systematic analysis of current cellular and molecular concepts of HMEs along with clinical characteristics, clinical and molecular diagnostic methods, differential diagnosis, and potential treatment options.
PubMed: 34956317
DOI: 10.3389/fgene.2021.759129 -
Archivos Argentinos de Pediatria Jun 2022Hereditary osteochondromatosis is an uncommon, autosomal, dominant condition characterized by the presence of multiple bone growths.
INTRODUCTION
Hereditary osteochondromatosis is an uncommon, autosomal, dominant condition characterized by the presence of multiple bone growths.
OBJECTIVE
To analyze factors associated with health-related quality of life (HRQoL) among children > 2 years and adults receiving follow-up at a tertiary care children's hospital in Argentina.
POPULATION AND METHODS
Cross-sectional study of a follow-up cohort. HRQoL was measured using the Pediatric Quality of Life Inventory® (PedsQL) and the Short Form Health Survey (SF- 36). Sex, age, sociodemographic characteristics, height, radiology, axis alteration and limb function, presence of pain, and malignant change were recorded. Severity was classified as per Pedrini et al. Parametric and non-parametric tests and regression analysis were done.
RESULTS
A total of 66 cases (47 children and 19 adults) were included. Male/female ratio: 1.7/1. Median age: 13.4 years (r: 2.21-55.3). Pain was observed in 30/47 children and in 17/19 adults. Considering the adult bone age (or epiphyseal closure) as the cutoff point to define adult status, 11/37 children and 18/27 adults had a severe disease and 2/38 children and 9/27 adults had short stature. The average value of the physical component of HRQoL in children was 65.9 (SD: 22.5) and, in adults, 27.2 (IQR: 18.5- 34.7). The presence of pain and clinical severity were significantly associated with a lower HRQoL, both in children and adults.
CONCLUSIONS
This study found that pain and disease severity had a negative effect on HRQoL.
Topics: Adolescent; Adult; Child; Cross-Sectional Studies; Female; Humans; Male; Osteochondromatosis; Pain; Quality of Life; Severity of Illness Index; Surveys and Questionnaires
PubMed: 35533120
DOI: 10.5546/aap.2022.eng.180 -
Maedica Dec 2022Synovial osteochondromatosis is a rare benign pathology arising from the synovial membrane of the joints, synovial sheaths or uncommonly the bursae around the joints....
Synovial osteochondromatosis is a rare benign pathology arising from the synovial membrane of the joints, synovial sheaths or uncommonly the bursae around the joints. Baker's cysts are fluid filled, synovium-lined lesions arising in popliteal fossa. Synovial chondromatosis involving the Baker`s cyst is extremely rare. The aim of this case report is to document this exceedingly rare extra articular synovial pathology involving Baker's cysts of bilateral knees and to emphasize the importance of radiographs and sonography in the diagnosis.
PubMed: 36818241
DOI: 10.26574/maedica.2022.17.4.999 -
Orphanet Journal of Rare Diseases Dec 2019Rare bone diseases account for 5% of all birth defects yet very few have personalised treatments. Developments in genetic diagnosis, molecular techniques and treatment... (Review)
Review
BACKGROUND
Rare bone diseases account for 5% of all birth defects yet very few have personalised treatments. Developments in genetic diagnosis, molecular techniques and treatment technologies however, are leading to unparalleled therapeutic advance. This review explores the evolving therapeutic landscape of genetic skeletal disorders (GSDs); the key conditions and there key differentials.
METHODS
A retrospective literature based review was conducted in December 2018 using a systematic search strategy for relevant articles and trials in Pubmed and clinicaltrials.gov respectively. Over 140 articles and 80 trials were generated for review.
RESULTS
Over 20 personalised therapies are discussed in addition to several novel disease modifying treatments in over 25 GSDs. Treatments discussed are at different stages from preclinical studies to clinical trials and approved drugs, including; Burosumab for X-linked hypophosphatemia, Palovarotene for Hereditary Multiple Exostoses, Carbamazepine for Metaphyseal Chondrodysplasia (Schmid type), Lithium carbonate and anti-sclerostin therapy for Osteoporosis Pseudoglioma syndrome and novel therapies for Osteopetrosis. We also discuss therapeutic advances in Achondroplasia, Osteogenesis Imperfecta (OI), Hypophosphotasia (HPP), Fibrodysplasia Ossificans Progressiva, and RNA silencing therapies in preclinical studies for OI and HPP.
DISCUSSION
It is an exciting time for GSD therapies despite the challenges of drug development in rare diseases. In discussing emerging therapies, we explore novel approaches to drug development from drug repurposing to in-utero stem cell transplants. We highlight the improved understanding of bone pathophysiology, genetic pathways and challenges of developing gene therapies for GSDs.
Topics: Animals; Bone Diseases; Female; Humans; Male; Myositis Ossificans; Osteogenesis Imperfecta; Osteopetrosis; Rare Diseases
PubMed: 31888683
DOI: 10.1186/s13023-019-1222-2 -
Journal of Ultrasonography Nov 2019High-resolution ultrasonography has many advantages in the imaging of the musculoskeletal system, when compared to other imaging methods, particularly in superficial,... (Review)
Review
High-resolution ultrasonography has many advantages in the imaging of the musculoskeletal system, when compared to other imaging methods, particularly in superficial, easily accessible parts of the body. It is a perfect diagnostic tool for visualizing the most common pathologies of the musculoskeletal system, including the bursae. Inflammation of bursae is frequent, and it can mimic other diseases of the musculoskeletal system. Therefore, knowledge of normal ultrasound anatomy of the bursae, their exact location in the human body, and the sonographic signs of their most common pathologies is essential for establishing a quick and accurate diagnosis by ultrasound. Common conditions affecting bursae, leading to bursitis, include acute trauma, overuse syndromes, degenerative diseases, inflammatory conditions (rheumatoid arthritis, psoriatic arthritis, gout etc.), infections such as tuberculosis, synovial tumors and tumor-like conditions (pigmented villonodular synovitis, osteochondromatosis), and many more. This review article presents and explains ultrasound examples of the most frequent pathological conditions affecting bursae. Images include normal and pathological conditions of bursae around the shoulder joint, elbow, hip, knee, and ankle joint.
PubMed: 31807327
DOI: 10.15557/JoU.2019.0032