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1.
Orthopadie (Heidelb) ; 53(9): 651-658, 2024 Sep.
Artículo en Alemán | MEDLINE | ID: mdl-39196304

RESUMEN

BACKGROUND: Juvenile osteochondritis dissecans of the knee joint is the most common osteochondral lesion during growth, usually occurring between the 10th and 14th year of age. PATHOGENESIS: Repetitive microtraumata lead to a subchondral osseus lesion, which is commonly located at the medial aspect of the femoral condyle. Sport activities are considered to be the main cause, although genetic and hereditary factors as well as vitamin D3 deficiency also play a role. Current classification systems distinguish between stable and unstable osteochondral lesions, which is decisive for further treatment. TREATMENT: Stable lesions may heal through conservative treatment by avoiding weight bearing and sport. Unstable lesions, on the other hand, can lead to a complete defect of the joint surface with the formation of a free joint body. In such cases, various surgical techniques aim at reconstructing the surface of the joint, in order to reduce the risk of secondary arthritis.


Asunto(s)
Articulación de la Rodilla , Osteocondritis Disecante , Adolescente , Niño , Femenino , Humanos , Masculino , Cartílago Articular/patología , Traumatismos de la Rodilla/diagnóstico , Traumatismos de la Rodilla/genética , Traumatismos de la Rodilla/patología , Traumatismos de la Rodilla/terapia , Articulación de la Rodilla/patología , Osteocondritis Disecante/diagnóstico , Osteocondritis Disecante/genética , Osteocondritis Disecante/patología , Osteocondritis Disecante/terapia
2.
PLoS One ; 19(8): e0308641, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39116161

RESUMEN

Ostechondritis dissecans (OCD) is an orthopaedic disease characterized by formation of osteochondral defects in developing joints. Epiphyseal cartilage necrosis (osteochondrosis [OC]) caused by focal failure of vascular supply is the known precursor lesion of OCD, but it remains to be established how the severity of vascular failure drives lesion healing or progression. In the current study we have implemented a novel piglet model of induced osteochondrosis of the lateral trochlear ridge of the femur to determine the role that the extent of ischemia plays in the development and progression of OC/OCD lesions. Ten 4-week-old Yorkshire piglets underwent surgical interruption of the vascular supply to the entirety (n = 4 pigs) or the distal half (n = 6 pigs) of the lateral trochlear ridge of the femur. At 2, 6, and 12 weeks postoperatively, distal femora were evaluated by magnetic resonance imaging (MRI) to determine the fate of induced OC lesions. At 12 weeks, piglets were euthanized, and the surgical sites were examined histologically. After complete devascularization, lesion size increased between the 6- and 12-week MRI by an average of 24.8 mm2 (95% CI: [-2.2, 51.7]; p = 0.071). During the same period, lesion size decreased by an average of 7.6 mm2 (95% CI: [-24.5, 19.4]; p = 0.83) in piglets receiving partial devascularization. At 12 weeks, average ± SD lesion size was larger (p<0.001) in piglets undergoing complete (73.5 ± 17.6 mm2) vs. partial (16.5 ± 9.8 mm2) devascularization. Our study demonstrates how the degree of vascular interruption determines lesion size and likelihood of healing in a large animal model of trochlear OC.


Asunto(s)
Modelos Animales de Enfermedad , Fémur , Imagen por Resonancia Magnética , Osteocondrosis , Animales , Porcinos , Fémur/patología , Fémur/irrigación sanguínea , Osteocondrosis/patología , Osteocondrosis/etiología , Osteocondrosis/cirugía , Lesiones del Sistema Vascular/patología , Lesiones del Sistema Vascular/etiología , Osteocondritis Disecante/patología , Osteocondritis Disecante/etiología , Osteocondritis Disecante/cirugía
3.
Am J Sports Med ; 52(2): 352-361, 2024 02.
Artículo en Inglés | MEDLINE | ID: mdl-38197165

RESUMEN

BACKGROUND: Open reduction and internal fixation (ORIF) has been widely performed because the osteochondral component of the osteochondritis dissecans (OCD) lesion is the most suitable for reconstructing the joint structure. PURPOSE: To evaluate radiological healing in terms of reconstructed bony structure after ORIF with bone graft by computed tomography (CT), to identify preoperative prognostic factors for failure, and to determine the cutoff value of radiological healing for risk of failure. STUDY DESIGN: Case-control study; Level of evidence, 3. METHODS: A retrospective cohort study of 42 patients (44 knees) who underwent internal fixation with bone graft for OCD lesions of the knee from 2004 to 2018 was conducted. All patients were evaluated 6 months postoperatively, and if not healed 6 months after surgery, they were evaluated by CT periodically thereafter. Radiological healing was judged according to the following 3 criteria: (1) reossification of the OCD lesion, (2) bony continuity between the OCD lesion and basal floor, and (3) reconstructed bony surface of the femoral condyle reconstructed to match the normal joint. Then, the percentage of the radiological healing area was calculated as the ratio of the healing length to the total lesion length. The nonhealing area was calculated by multiplying the sum of the total nonhealing length. Clinical failure was defined as any definitive reoperation for the same OCD lesion, such as fragment excision, or a cartilage restoration procedure. After 6 months, all eligible patients underwent arthroscopy to check for protrusion of the absorbable pin into the joint; the removal of an absorbable pin protruding into the joint was not considered a failure. RESULTS: Clinical failure was recorded for 4 cases (9.1%). The mean overall percentage of the radiological healing area of OCD 6 months after ORIF with bone graft was 79.5% ± 24.4%, and the mean overall nonhealing area at 6 months was 87.8 ± 107.9 mm2. The percentages of radiological healing area of stable (International Cartilage Regeneration & Joint Preservation Society OCD II) lesions and femoral condylar (lateral femoral condyle + medial femoral condyle) lesions were significantly lower than unstable lesions and femoral groove lesions, respectively (P = .01 and P = .03, respectively). On receiver operating characteristic curve analysis, the cutoff points for predicting a significantly increased risk of failure were 33.9% (sensitivity, 100%; specificity, 100%; area under the curve, 1) for the percentage of radiological healing area and 222.9 mm2 (sensitivity, 95%; specificity, 100%; area under the curve, 0.956) for the nonhealing area 6 months postoperatively. CONCLUSION: A stable lesion and a femoral condylar lesion were the predictors of poor radiological healing on CT images 6 months after ORIF with bone graft. The risk of failure was increased significantly in cases with only approximately one-third of the lesion healed or in cases with large nonhealing areas at 6 months postoperatively.


Asunto(s)
Osteocondritis Disecante , Humanos , Osteocondritis Disecante/diagnóstico por imagen , Osteocondritis Disecante/cirugía , Osteocondritis Disecante/patología , Estudios Retrospectivos , Estudios de Casos y Controles , Radiografía , Articulación de la Rodilla/diagnóstico por imagen , Articulación de la Rodilla/cirugía , Articulación de la Rodilla/patología , Tomografía Computarizada por Rayos X
4.
Orthopadie (Heidelb) ; 53(1): 23-38, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37815635

RESUMEN

Chondral and osteochondral lesions encompass several acute or chronic defects of the articular cartilage and/or subchondral bone. These lesions can result from several different diseases and injuries, including osteochondritis dissecans, osteochondral defects, osteochondral fractures, subchondral bone osteonecrosis, and insufficiency fractures. As the cartilage has a low capacity for regeneration and self-repair, these lesions can progress to osteoarthritis. This study provides a comprehensive overview of the subject matter that it covers. PubMed, Scopus and Google Scholar were accessed using the following keywords: "chondral lesions/defects of the femoral head", "chondral/cartilage lesions/defects of the acetabulum", "chondral/cartilage lesions/defects of the hip", "osteochondral lesions of the femoral head", "osteochondral lesions of the acetabulum", "osteochondral lesions of the hip", "osteochondritis dissecans," "early osteoarthritis of the hip," and "early stage avascular necrosis". Hip osteochondral injuries can cause significant damage to the articular surface and diminish the quality of life. It can be difficult to treat such injuries, especially in patients who are young and active. Several methods are used to treat chondral and osteochondral injuries of the hip, such as mesenchymal stem cells and cell-based treatment, surgical repair, and microfractures. Realignment of bony anatomy may also be necessary for optimal outcomes. Despite several treatments being successful, there is a lack of head-to-head comparisons and large sample size studies in the current literature. Additional research will be required to provide appropriate clinical recommendations for treating chondral/osteochondral injuries of the hip joint.


Asunto(s)
Enfermedades de los Cartílagos , Cartílago Articular , Osteoartritis , Osteocondritis Disecante , Osteonecrosis , Humanos , Osteocondritis Disecante/patología , Calidad de Vida , Cartílago Articular/lesiones , Enfermedades de los Cartílagos/cirugía , Acetábulo/patología , Osteonecrosis/cirugía
5.
Int J Paleopathol ; 43: 16-21, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37716107

RESUMEN

OBJECTIVE: To evaluate pathological changes in fossils from the Brazilian Intertropical Region (BIR), expanding the records of previously reported diseases for representatives of the Quaternary South American megafauna, including taxa not studied in previous works. MATERIALS AND METHODS: We carried out a thorough macroscopic analysis of fifteen unpublished specimens belonging to representatives of the Quaternary megafauna of BIR to identify evidence of pathological alterations. RESULTS: Alterations included: osteophytes in Toxodontidae, Megatheridae and E. laurillardi; rough subchondral bone, bone overgrowth and bone erosion in E. laurillardi; slit-shaped subchondral depressions in Equidae and E. laurillardi; and a triangular-shaped porous lesion in Mylodontidae. CONCLUSIONS: The alterations found allowed the recognition of the first cases of osteoarthritis for Toxodontidae and articular depressions for Equidae, and new cases of both diseases in Eremotherium laurillardi; a new case of osteochondritis dissecans for Mylodontidae; potential new cases of calcium pyrophosphate deposition and spondyloarthropathy for E. laurillardi SIGNIFICANCE: Our results provide additional evidence that calcium pyrophosphate deposition disease was widely spread among species of the South American megafauna and suggest that osteochondritis dissecans may have been relatively common among ground sloths. LIMITATIONS: The identification of calcium pyrophosphate deposition and spondyloarthropathy in E. laurillardi are quite tentative because the evidence found is ambiguous and the number of examined specimens is limited.


Asunto(s)
Artropatías , Osteocondritis Disecante , Espondiloartropatías , Xenarthra , Animales , Osteocondritis Disecante/patología , Brasil , Pirofosfato de Calcio , Equidae
6.
Stem Cells Transl Med ; 12(5): 293-306, 2023 05 15.
Artículo en Inglés | MEDLINE | ID: mdl-37184892

RESUMEN

Juvenile osteochondritis dissecans (JOCD) is a pediatric disease, which begins with an osteonecrotic lesion in the secondary ossification center which, over time, results in the separation of the necrotic fragment from the parent bone. JOCD predisposes to early-onset osteoarthritis. However, the knowledge gap in JOCD pathomechanisms severely limits current therapeutic strategies. To elucidate its etiology, we conducted a study with induced pluripotent stem cells (iPSCs) from JOCD and control patients. iPSCs from skin biopsies were differentiated to iMSCs (iPSC-derived mesenchymal stromal cells) and subjected to chondrogenic and endochondral ossification, and endoplasmic reticulum (ER)-stress induction assays. Our study, using 3 JOCD donors, showed that JOCD cells have lower chondrogenic capability and their endochondral ossification process differs from control cells; yet, JOCD- and control-cells accomplish osteogenesis of similar quality. Our findings show that endoplasmic reticulum stress sensing and response mechanisms in JOCD cells, which partially regulate chondrocyte and osteoblast differentiation, are related to these differences. We suggest that JOCD cells are more sensitive to ER stress than control cells, and in pathological microenvironments, such as microtrauma and micro-ischemia, JOCD pathogenesis pathways may be initiated. This study is the first, to the best of our knowledge, to realize the important role that resident cells and their differentiating counterparts play in JOCD and to put forth a novel etiological hypothesis that seeks to consolidate and explain previously postulated hypotheses. Furthermore, our results establish well-characterized JOCD-specific iPSC-derived in vitro models and identified potential targets which could be used to improve diagnostic tools and therapeutic strategies in JOCD.


Asunto(s)
Células Madre Pluripotentes Inducidas , Osteocondritis Disecante , Niño , Humanos , Osteocondritis Disecante/diagnóstico , Osteocondritis Disecante/patología , Osteocondritis Disecante/terapia , Células Madre Pluripotentes Inducidas/patología , Necrosis/complicaciones , Condrocitos , Estrés del Retículo Endoplásmico
7.
Am J Sports Med ; 51(2): 358-366, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-36622401

RESUMEN

BACKGROUND: Medical screening using ultrasonography (US) has been performed on young baseball players for early detection of osteochondritis dissecans (OCD) of the humeral capitellum. Deep learning (DL) and artificial intelligence (AI) techniques are widely adopted in the medical imaging research field. PURPOSE/HYPOTHESIS: The purpose of this study was to calculate the diagnostic accuracy using DL for US images of OCD. We hypothesized that using DL for US imaging would improve the prediction accuracy of OCD. STUDY DESIGN: Cohort study (Diagnosis); Level of evidence, 2. METHODS: A total of 40 elbows (mean age of patients, 12.1 years) that were suspected of having OCD at a medical checkup and later confirmed by radiographs and magnetic resonance imaging were included in the study. The affected elbows were used as the OCD group and the contralateral elbows as the control group. From US videos, 100 images per elbow were captured from different angles, and 4000 images of the elbows were prepared for both groups. Of these, 80% were randomly selected by DL models and used as training data; the remaining were used as test data. Transfer learning was conducted using 3 pretrained DL models. The confusion matrix and the area under the receiver operating characteristic curve (AUC) were used to evaluate the model, and the visualization of the areas deemed important by the DL models was also performed. Furthermore, OCD regions were detected using an automatic image recognition model based on DL. RESULTS: Classification of the OCD image by the DL model was performed; the best accuracy score was 0.87; the recall was 1.00. AUC was high for all DL models. Visualization of important features showed that AI predicted the presence of OCD by focusing on the irregularity or discontinuity of the surface of subchondral bone. In the detection of OCD task, the mean average precision was 0.83. CONCLUSION: The DL on US images identified OCD with high accuracy. The important features detected by the DL models correspond to the areas used by clinicians in screening the US images. The OCD was also detected with high accuracy using the object detection model. The AI model may be used in medical screening for OCD.


Asunto(s)
Aprendizaje Profundo , Articulación del Codo , Osteocondritis Disecante , Humanos , Niño , Estudios de Cohortes , Osteocondritis Disecante/patología , Inteligencia Artificial , Húmero/patología , Articulación del Codo/diagnóstico por imagen , Ultrasonografía
8.
Cartilage ; 13(3): 19476035221121789, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36117427

RESUMEN

OBJECTIVE: Aim of this systematic review was to describe all classification systems for knee osteochondritis dissecans (OCD) lesions, evaluating their accuracy and reliability, as well as their use in the literature on knee OCD. DESIGN: A systematic review of the literature was performed in July 2021 on PubMed, WebOfScience, and Cochrane Collaboration (library) to describe all published classification systems for knee OCD lesions and quantify the use of these classifications in the literature. RESULTS: Out of 1,664 records, 30 studies on 33 OCD classifications systems were identified, describing 11 radiographic, 13 MRI, and 9 arthroscopic classifications. The search included 193 clinical studies applying at least one OCD classification, for a total of 7,299 knee OCD cases. Radiographic classifications were applied to 35.8%, MRI to 35.2%, and arthroscopic classifications to 64.2% of the included studies. Among these, in the last two decades, the International Cartilage Repair Society's (ICRS) arthroscopic classification was the most described approach in studies on knee OCD. Overall, there is a lack of data on accuracy and reliability of the available systems. CONCLUSIONS: Several classifications are available, with ICRS being the most used system over the time period studied. Arthroscopy allows to confirm lesion stability, but noninvasive imaging approaches are the first line to guide patient management. Among these, radiographic classifications are still widely used, despite being partially superseded by MRI, because of its capability to detect the earliest disease stages and to distinguish stable from unstable lesions, and thus to define the most suitable conservative or surgical approach to manage patients affected by knee OCD. LEVEL OF EVIDENCE: Systematic review, level IV.


Asunto(s)
Osteocondritis Disecante , Artroscopía/métodos , Humanos , Articulación de la Rodilla/patología , Imagen por Resonancia Magnética , Osteocondritis Disecante/diagnóstico por imagen , Osteocondritis Disecante/patología , Reproducibilidad de los Resultados
9.
Arthroscopy ; 38(10): 2919-2929, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-35337959

RESUMEN

PURPOSE: The purpose of this study was to evaluate the impact of patient sex on outcomes after treatment of osteochondritis dissecans (OCD) lesions of the knee through a systematic review of current evidence. METHODS: This review was conducted according to the PRISMA guidelines using the PubMed, PubMed Central, Embase, Ovid Medline, Cochrane Libraries, and the Cumulative Index to Nursing and Allied Health Literature (CINAHL) databases. Relevant outcomes included functional (e.g., International Knee Documentation Committee and Subjective Knee Evaluation, Lysholm Knee Score) and clinical outcomes (e.g., symptom/pain resolution, reoperation rates) for males and females after operative or nonoperative treatment of knee OCD lesions. RESULTS: Ten articles with a total of 691 (73%) males and 260 (27%) females were included. Mean age ranged from 11.3 ± 2.1 years to 34.5 ± 10.3 years, and follow-up ranged from 6 months to 16.3 years. In four studies reporting functional outcomes, no significant differences were found between males and females in any metric assessed (all P > .05). Seven studies reported clinical outcomes after treatment of knee OCD lesions. One study determined males were more likely to have a successful nonoperative outcome than females (OR: 1.85, 95% CI: 1.00-3.40). Another study found males had a lower risk of developing symptomatic knee pain following operative or nonoperative treatment at a mean 14-year follow-up (HR: 0.24; 95% CI: 0.07-0.81). The remaining 5 studies reported statistically comparable clinical outcomes between males and females (all P > .05). CONCLUSION: The present systematic review found mostly comparable clinical and functional outcomes between males and females following treatment of knee OCD lesions. Despite sex-related differences in the prevalence of these lesions and limited evidence of differences in clinical outcomes, these data suggest that sex does not independently predict outcomes after treatment. LEVEL OF EVIDENCE: III, systematic review of Level II and III studies.


Asunto(s)
Osteocondritis Disecante , Femenino , Humanos , Lactante , Rodilla , Articulación de la Rodilla/patología , Articulación de la Rodilla/cirugía , Masculino , Osteocondritis Disecante/patología , Osteocondritis Disecante/cirugía , Dolor , Segunda Cirugía
10.
Cartilage ; 13(1): 19476035221075948, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35125008

RESUMEN

OBJECTIVE: Knee osteochondritis dissecans (OCD) is a still poorly understood pathological condition of the articular subchondral bone and its overlying cartilage. Patellofemoral involvement accounts for less than 1% of cases; tibial plateau and multifocal involvement is an even rarer instance. The purpose of this study is to review what is currently known about patellofemoral OCD (PF-OCD) and to present an unusual case of PF-OCD which progressed to become multifocal in an adult female patient. METHODS: A comprehensive literature search was conducted on PubMed/Medline, Cochrane, Embase, Web of Science, and Scopus databases on September 2021 for all levels of evidence and English language. After duplicate removal, 234 papers pertaining to PF-OCD were retrieved. Thirty-nine studies met inclusion criteria and were included in the review. As an example, a unique case of delamination of patellar cartilage consistent with PF-OCD with progressive involvement of trochlea and both tibial plateau in a 35-year-old woman is also presented. RESULTS: PF-OCD is a rare localization of knee OCD. Two hundred eighty-eight cases have been reported in the literature to date. Mean age at time of diagnosis was 16 years and the location could also be bilateral and multifocal. The etiology is still debated but traumatic, vascular, and hereditary mechanisms are likely. Management mirrors that of classical OCD. CONCLUSIONS: PF-OCD is an uncommon cause of anterior knee pain but should be considered even when physeal plates are closed. Current available evidence on treatment is of low quality, based on single case reports or small retrospective case series.


Asunto(s)
Osteocondritis Disecante , Adulto , Femenino , Humanos , Rodilla/patología , Articulación de la Rodilla/patología , Osteocondritis Disecante/patología , Rótula , Estudios Retrospectivos
11.
Radiographics ; 42(3): 861-879, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35213260

RESUMEN

The growing skeleton undergoes well-described and predictable normal developmental changes, which may be misinterpreted a as pathologic condition at imaging. Primary and secondary ossification centers (SOCs), which form the diaphysis and the epiphysis of long bones, respectively, are formed by endochondral and intramembranous ossification processes. During skeletal maturation, the SOCs may appear irregular and fragmented, which should not be confused with fractures, osteochondritis dissecans, and osteochondrosis. These normal irregularities are generally symmetric with a smooth, round, and sclerotic appearance, which are aspects that help in the differentiation. The metaphysis, epiphysis, and growth plates or physes are common sites of injuries and normal variants in the pediatric skeleton. The metaphysis contains the newly formed bone from endochondral ossification and is highly vascularized. It is predisposed to easy spread of infections and bone tumors. The physis is the weakest structure of the immature skeleton. Injuries to this location may disrupt endochondral ossification and lead to growth disturbances. Pathologic conditions of the epiphyses may extend into the articular surface and lead to articular damage. At MRI, small and localized foci of bone marrow changes within the epiphysis and metaphysis are also a common finding. These can be related to residual red marrow (especially in the metaphysis of long bones and hindfoot), focal periphyseal edema (associated with the process of physeal closure), and ultimately to a normal ossification process. The authors review the imaging appearance of normal skeletal maturation and discuss common maturation disorders on the basis of developmental stage and location. ©RSNA, 2022.


Asunto(s)
Epífisis , Osteocondritis Disecante , Niño , Epífisis/diagnóstico por imagen , Epífisis/patología , Placa de Crecimiento/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Osteocondritis Disecante/patología , Osteogénesis
12.
Ann Biomed Eng ; 50(1): 56-77, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34961892

RESUMEN

This study in dogs explored the feasibility of using cartilage fragments removed and discarded during routine palliative surgery for osteochondritis dissecans (OCD) as a source of primary chondrocytes for scaffold-free cartilage tissue-engineering. Primary chondrocytes were obtained from three OCD donors and one age-matched healthy articular cartilage (HAC) donor. After monolayer expansion of primary cells, a three-dimensional spherical suspension culture was implemented. Following this stage, cells were seeded at a high density into custom-made agarose molds that allowed for size and shape-specific constructs to be generated via a method of cellular self-assembling in a scaffold-free environment. Fifty-eight neocartilage constructs were tissue-engineered using this methodology. Neocartilage constructs and native cartilage from shoulder joint were subjected to histological, mechanical, and biochemical testing. OCD and HAC chondrocytes-sourced constructs had uniformly flat morphology and histology consistent with cartilage tissue. Constructs sourced from OCD chondrocytes were 1.5-times (32%) stiffer in compression and 1.3 times (23%) stronger in tension than constructs sourced from HAC chondrocytes and only 8.7-times (81%) less stiff in tension than native tissue. Constructs from both cell sources consistently had lower collagen content than native tissue (22.9%/dry weight [DW] for OCD and 4.1%/DW for HAC vs. 51.1%/DW native tissue). To improve the collagen content and mechanical properties of neocartilage, biological and mechanical stimuli, and thyroid hormone (tri-iodothyronine) were applied to the chondrocytes during the self-assembling stage in two separate studies. A 2.6-fold (62%) increase in compressive stiffness was detected with supplementation of biological stimuli alone and 5-fold (81%) increase with combined biological and mechanical stimuli at 20% strain. Application of thyroid hormone improved collagen content (1.7-times, 33%), tensile strength (1.8-times, 43%), and stiffness (1.3-times, 21%) of constructs, relative to untreated controls. Collectively, these data suggest that OCD chondrocytes can serve as a reliable cell source for cartilage tissue-engineering and that canine chondrocytes respond favorably to biological and mechanical stimuli that have been shown effective in chondrocytes from other animal species, including humans.


Asunto(s)
Cartílago Articular , Osteocondritis Disecante , Animales , Cartílago Articular/cirugía , Células Cultivadas , Condrocitos/patología , Colágeno , Perros , Osteocondritis Disecante/patología , Osteocondritis Disecante/cirugía , Ingeniería de Tejidos/métodos
13.
Mol Genet Genomic Med ; 10(1): e1773, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-34894100

RESUMEN

BACKGROUND: Osteochondritis dissecans is a condition wherein there is a subchondral bone lesion that causes pain, inflammation, and cartilage damage. Dominant Familial Osteochondritis Dissecans is a rare and severe form of osteochondritis dissecans (OCD). It is caused by heterozygous pathogenic variants in the gene encoding Aggrecan; ACAN. Aggrecan, a proteoglycan, is an essential component of the articular and growth plate cartilage. METHODS: Herein, we report three individuals from one family; the proband who presented with short stature, a lower limb bone exostosis, and bilateral knee and elbow OCD at the age of 13 years old. His twin brother presented with isolated short stature and his father with short stature and lumbar disc herniation. RESULTS: Next-generation sequencing of the ACAN gene in the proband identified a frameshift variant which is also present in the brother and father with short stature. The proband was treated surgically with bilateral elbow microfracture, after the failure of conservative therapy. CONCLUSION: To the best of our knowledge, this is the first patient with an aggrecanopathy who presents with osteochondritis dissecans due to a frameshift variant. This family presents with variable expressivity which might be attributed to modifier genes.


Asunto(s)
Enanismo , Desplazamiento del Disco Intervertebral , Osteocondritis Disecante , Adolescente , Agrecanos/genética , Enanismo/genética , Heterocigoto , Humanos , Desplazamiento del Disco Intervertebral/genética , Masculino , Osteocondritis Disecante/genética , Osteocondritis Disecante/patología
14.
Am J Sports Med ; 49(1): 162-171, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-33196301

RESUMEN

BACKGROUND: Although a variety of pathologic conditions associated with osteochondritis dissecans (OCD) have been reported, the pathological progression has remained unclear. HYPOTHESIS: Separation of the immature epiphyseal cartilage is an early event in OCD, and osteonecrosis in the articular fragment is a late event. STUDY DESIGN: Case Series; Level of evidence, 4. METHODS: The participants were 26 boys (mean age, 13.8 years; mean skeletal age score for the elbow, 24.6 points) with capitellar OCD who underwent osteochondral autograft transplantation. A total of 28 cylindrical osteochondral plugs, including the articular fragment, an intermediate layer, and proximal epiphyseal bone, were harvested from the central area of the capitellum and were examined histologically. The articular fragments of OCD were independently assessed by 5 observers and divided into 4 pathological variations: IA, nearly normal-cartilaginous; IB, deteriorated-cartilaginous; IIA, cartilage-ossifying; and IIB, cartilage-osteonecrotic. The reliability of assessment and the correlation of the pathological variations with the clinical data were examined. RESULTS: The reliability of the assessment among 5 observers was almost perfect (Cohen kappa value = 0.91). OCD variations of IA, IB, IIA, and IIB were evident in 5, 10, 5, and 6 patients, respectively. OCD-I (cartilaginous) and OCD-II (osteochondral) corresponded significantly to radiographic stage I (radiolucency or slight calcification with open physis) and stage II (delayed ossification or bony fragment), respectively (Cohen kappa value = 0.79; percentage agreement = 81%). The pathological OCD variations were significantly correlated with the clinical data, including the period from symptom onset to surgery, patient age, and the skeletal age score (P < .01, in each). CONCLUSION: The present study has revealed that the pathological variations correspond to the progression of OCD, thus proving our hypothesis. OCD-IA was shown to be an early lesion caused by separation of the immature epiphyseal cartilage. OCD-IB appeared to result from ossification arrest over a prolonged period from the onset of OCD-IA, whereas OCD-IIA showed delayed ossification in the epiphyseal cartilage where vascularization from the surrounding bone had been established. Osteonecrosis in OCD-IIB was shown to be a late pathological event caused by disruption of the vascular supply to OCD-IIA.


Asunto(s)
Articulación del Codo/patología , Codo/fisiopatología , Placa de Crecimiento/patología , Osteocondritis Disecante/cirugía , Adolescente , Béisbol , Articulación del Codo/diagnóstico por imagen , Articulación del Codo/cirugía , Humanos , Masculino , Osteocondritis Disecante/diagnóstico por imagen , Osteocondritis Disecante/patología , Reproducibilidad de los Resultados , Resultado del Tratamiento
15.
J Pediatr Orthop ; 41(2): e147-e152, 2021 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-33229961

RESUMEN

PURPOSE: Factors that contribute to the development of juvenile osteochondritis dissecans (JOCD) of the talus are poorly understood. Some authors suggest that a higher loading of the affected zone may be a cofactor in osteochondral lesions. Therefore, the purpose of the study is to evaluate any association between ankle morphology and talus JOCD using morphologic parameters from magnetic resonance images. Our hypothesis is that ankles with JOCD lesions would have differences in the anatomy compared with age and sex-matched unaffected ankles. METHODS: We evaluated a total of 75 extremities. There were 22 patients (25 ankles) with talus JOCD lesions, and 50 patients (50 ankles) sex and age-matched individuals with healthy ankles served as controls. Two examiners conducted independent measurements of 8 magnetic resonance images parameters: tibial anterior surface angle, tibial shaft both malleoli angle (TBM), tibial axis-medial malleolus angle, anterior opening angle of the talus, malleolar width, tibial lateral surface angle, Maximal tibial thickness, length of trochlea tali arc, and height of trochlea tali arc. Measurement reliability was assessed using intraclass correlation coefficients. Differences in parameters between JOCD patients and controls were evaluated using independent t test. The level of significance was taken to be P<0.05. RESULTS: Intraclass correlation coefficients demonstrated good to excellent consistency for all measurements. Sagittal parameters demonstrated a significant length of trochlea tali arc increase in ankles with JOCD lesions compared with normal ankles (P=0.015). There was no statistical difference in any of the axial or coronal parameters. CONCLUSIONS: Ankle morphology may have a relationship with JOCD lesions. Future larger studies will be useful for further clarifying our findings, and detecting other potential predisposing factors with clinical relevance and how they can be modified. STUDY DESIGN: Cross-sectional study (Level of evidence III).


Asunto(s)
Articulación del Tobillo/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Osteocondritis Disecante/diagnóstico por imagen , Astrágalo/diagnóstico por imagen , Adolescente , Tobillo , Articulación del Tobillo/patología , Estudios de Casos y Controles , Niño , Estudios Transversales , Femenino , Humanos , Masculino , Osteocondritis Disecante/etiología , Osteocondritis Disecante/patología , Proyectos Piloto , Reproducibilidad de los Resultados , Astrágalo/patología , Tibia/diagnóstico por imagen
16.
Eur J Med Genet ; 63(12): 104074, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-32980524

RESUMEN

Short stature is a feature when a person's height is more than 2 SDS below the corresponding mean height for a given age, gender and population. It can be influenced by many factors essential to growth plate. Here we report a three-generation family with 13 patients affected by osteogenesis imperfecta (OI) type I, short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) or both. Panel sequencing of the proband revealed mutations in two extracellular matrix related genes: COL1A1 and ACAN. When comparing the quantitative trait, height within the family of different mutation carrier groups, we found an interesting cumulative effect, the ones with both mutations manifest shortest stature. Dual diagnoses of the family also suggest the necessity of a comprehensive molecular diagnosis method, such as panel/exome sequencing, especially encountering patients with novel phenotype or extreme trait.


Asunto(s)
Agrecanos/genética , Estatura , Colágeno Tipo I/genética , Pruebas Genéticas/normas , Osteoartritis/patología , Osteocondritis Disecante/patología , Osteogénesis Imperfecta/genética , Adolescente , Adulto , Desarrollo Óseo , Niño , Preescolar , Cadena alfa 1 del Colágeno Tipo I , Diagnóstico Diferencial , Femenino , Pruebas Genéticas/métodos , Humanos , Masculino , Mutación , Osteoartritis/complicaciones , Osteocondritis Disecante/complicaciones , Osteogénesis Imperfecta/complicaciones , Osteogénesis Imperfecta/patología , Linaje , Fenotipo
17.
Am J Sports Med ; 48(4): 871-875, 2020 03.
Artículo en Inglés | MEDLINE | ID: mdl-32167842

RESUMEN

BACKGROUND: The cause of osteochondritis dissecans (OCD) is unknown. PURPOSE: To determine if mechanical axis deviation correlates with OCD lesion location in the knee, if degree of mechanical axis deviation correlates with size of OCD lesion, and if the deformity was primarily in the distal femur or proximal tibia. STUDY DESIGN: Cross-sectional study; Level of evidence, 3. METHODS: We identified 61 knees that underwent osteochondral allograft (OCA) transplantation for femoral condyle OCD lesions and used preoperative lower extremity alignment radiographs to measure lower extremity mechanical axis, mechanical lateral distal femoral angle (mLDFA), mechanical medial proximal tibial angle (mMPTA), and hip-knee-ankle angle. Lesion location and area were retrieved from operative records. RESULTS: The location of the OCD lesion was the medial femoral condyle (MFC) for 37 knees and lateral femoral condyle (LFC) for 24 knees. Among knees with MFC lesions, alignment was varus in 25 (68%). Conversely, knees with LFC lesions had valgus alignment in 16 (67%). The mLFDA was significantly more valgus in the LFC group. mMPTA was not different between MFC and LFC groups. There was no significant correlation between degree of mechanical axis deviation and lesion size. CONCLUSION: In this cohort, two-thirds of patients with symptomatic OCD lesions had associated mechanical axis deviation. Lesion location correlated with mechanical axis deviation (LFC lesions were associated with a deformity in the distal femur). Degree of deformity was not correlated with lesion size. Mechanical axis deviation may play a role in OCD pathogenesis. These data do not allow analysis of the role of mechanical axis deviation in causation or prognosis of OCD lesions, but surgeons treating OCD should be aware of this common association.


Asunto(s)
Fémur/patología , Articulación de la Rodilla/patología , Osteocondritis Disecante , Tibia/patología , Estudios Transversales , Fémur/diagnóstico por imagen , Humanos , Articulación de la Rodilla/diagnóstico por imagen , Osteocondritis Disecante/diagnóstico por imagen , Osteocondritis Disecante/patología , Estudios Retrospectivos , Tibia/diagnóstico por imagen
18.
Vet Radiol Ultrasound ; 61(3): 285-290, 2020 May.
Artículo en Inglés | MEDLINE | ID: mdl-32020748

RESUMEN

Osteochondritis dissecans (OCD) of the distal intermediate ridge of the tibia (DIRT) is commonly identified on either the lateral to medial (LM) or dorso45°medial-plantarolateral oblique (D45M-PLO) projection of the tarsus. This manuscript describes a retrospective case series out of Hagyard Equine Medical Institute, for which medical records and radiographic projections of the tarsus were reviewed, consistent with Keeneland's repository requirements. This original investigation identified seven yearling Thoroughbred horses between 2008 and 2018 with radiographic signs of atypical osteochondrosis lesions within the tarsus. The atypical lesions, originating along the medial margin of the distal intermediate ridge of the tibia, were initially only diagnosed on the dorso10°lateral-plantaromedial (D10L-PMO) projection and were overlooked on the LM and D45M-PLO views. Following the diagnosis of osteochondrosis in these seven cases, the radiographs were reviewed and re-evaluated, but osteochondrosis and/or fragmentation could not be definitively diagnosed on the LM and/or D45M-PLO projections alone. Our findings highlight the importance of a complete radiographic study of the equine tarsus when screening horses for OCD lesions of the distal intermediate ridge of the tibia and that atypical DIRT lesions may go undetected if the D10L-PMO projection is not performed.


Asunto(s)
Enfermedades de los Caballos/diagnóstico por imagen , Osteocondritis Disecante/veterinaria , Tibia/patología , Animales , Femenino , Enfermedades de los Caballos/patología , Caballos , Masculino , Osteocondritis Disecante/diagnóstico por imagen , Osteocondritis Disecante/patología , Radiografía , Estudios Retrospectivos , Huesos Tarsianos
19.
Cartilage ; 11(3): 273-290, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-29998741

RESUMEN

OBJECTIVE: The purpose of this manuscript is to analyze the evidence regarding etiopathogenesis of knee osteochondritis dissecans (OCD) lesions through a systematic review, so to summate the current understanding of the origin and progression of this pathologic articular processes. DESIGN: A systematic review of the literature was performed on the PubMed and Cochrane databases on October 2017 by 2 independent authors and included all levels of evidence. This included all English language literature, pertaining specifically to etiopathology of knee OCD with exclusions for review articles and expert opinion. Of 965 identified records, 154 full-text articles were assessed for eligibility and 86 studies met the inclusion criteria. RESULTS: According to these studies, the etiology of OCD can be of a biological or mechanical origin: 40 articles proposed a biological hypothesis, including genetic causes (27), ossification center deficit (12), and endocrine disorders (9); conversely, 52 articles supported a mechanical hypothesis, including injury/overuse (18), tibial spine impingement (5), discoid meniscus (16), and biomechanical alterations (20) as the cause of the onset of OCD. The pathogenic processes were investigated by 36 of these articles, with a focus on subchondral bone fracture and ischemia as the ultimate events leading to OCD. CONCLUSIONS: Biological and mechanical factors are found to result in subchondral bone remodeling alterations, acting independently or more likely synergically in the progression of knee OCD. The former includes genetic causes, deficit of ossification centers and endocrine disorders; the latter, tibial spine impingement, discoid meniscus, and biomechanical alterations, together with injuries and overuse. The resultant subchondral bone ischemia and/or fracturing appears to determine the onset and progression of OCD. LEVEL OF EVIDENCE: Systematic review of level II-IV studies, level IV.


Asunto(s)
Articulación de la Rodilla/patología , Rodilla/patología , Osteocondritis Disecante/etiología , Osteocondritis Disecante/patología , Adolescente , Fenómenos Biomecánicos , Remodelación Ósea , Cartílago Articular/patología , Causalidad , Niño , Trastornos de Traumas Acumulados/complicaciones , Femenino , Humanos , Traumatismos de la Rodilla/complicaciones , Masculino , Meniscos Tibiales/patología , Osteocondritis Disecante/genética , Tibia/patología , Adulto Joven
20.
Cartilage ; 11(3): 291-299, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-29998745

RESUMEN

OBJECTIVE: Osteochondritis dissecans (OCD) is a knee disorder of predominately pediatric populations. Because of low incidence, it has traditionally been difficult to study OCD. The purpose of this study was to report long-term outcomes of skeletally immature OCD lesions and determine risk factors for persistent knee pain at final follow-up. DESIGN: A geographic database of more than 500,000 patients was reviewed to identify patients with knee OCD. Clinical course including operative management, persistent knee pain, and total knee arthroplasty (TKA) were analyzed through review of radiographs, magnetic resonance images, and physician notes. RESULTS: A total of 95 skeletally immature patients (70 male, 25 female, mean age 12.5 ± 2.0 years) were followed for a mean of 14 years (range, 2-40 years). Fifty-three patients were treated operatively and 42 were treated nonoperatively. At final follow-up, 13 patients noted persistent knee pain, 8 treated operatively versus 5 treated nonoperatively. Risk factors for knee pain were female gender, patellar lesions, and unstable lesions. Four patients (8%) treated operatively and 2 patients (5%) treated nonoperatively developed symptomatic osteoarthritis at a mean of 28.6 years following diagnosis. Three patients underwent TKA at a mean age of 52 years, significantly younger than that observed for primary TKA at our institution (P = 0.004). CONCLUSIONS: Skeletally immature OCD patients have promising histories, with an estimated 14% risk of persistent knee pain, 6% symptomatic osteoarthritis, and 3% conversion to TKA at 14 years' mean follow-up. Females, patellar lesions, and unstable lesions demonstrated increased persistent knee pain risk. Patients with OCD undergo TKA at a significantly younger age than the general population.


Asunto(s)
Artralgia/epidemiología , Artroplastia de Reemplazo de Rodilla/estadística & datos numéricos , Dolor Crónico/epidemiología , Osteoartritis de la Rodilla/epidemiología , Osteocondritis Disecante/complicaciones , Adolescente , Adulto , Determinación de la Edad por el Esqueleto , Artralgia/etiología , Artralgia/cirugía , Niño , Dolor Crónico/etiología , Dolor Crónico/cirugía , Bases de Datos Factuales , Femenino , Estudios de Seguimiento , Humanos , Rodilla/patología , Rodilla/cirugía , Articulación de la Rodilla/patología , Articulación de la Rodilla/cirugía , Masculino , Persona de Mediana Edad , Osteoartritis de la Rodilla/cirugía , Osteocondritis Disecante/patología , Osteocondritis Disecante/cirugía , Factores de Riesgo , Adulto Joven
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