The purpose of this study was to perform morphological and molecular analyses of articular cartilage from a 14-year-old boy with unusual cartilage lesions, patella alta and trochlea dysplasia in both knee joints and c...The purpose of this study was to perform morphological and molecular analyses of articular cartilage from a 14-year-old boy with unusual cartilage lesions, patella alta and trochlea dysplasia in both knee joints and clinically examine two family members (sister, mother), also affected in their knee joints. Biopsies from the boy’s patella were used for: histological examination, Transmission Electron Microscopy (TEM) and DNA sequencing of the COL2A1 gene including Multiplex Ligation-dependent Probe Amplification (MLPA), for detection of DNA deletions and duplications. Clinical and radiological examination showed patella alta and trochlea dysplasia for the brother (type D), sister (type A) and mother (type A) with Insall-Salvati ratios of 1.50, 1.46 and 1.3. Light Microscopy (LM) of biopsies from the patient showed rhomboid chondrocytes in lacuna with deposition of protein aggregates in the ECM. TEM revealed abnormal type II collagen fibrils in aggregates and chondrocytes with abnormal matrix accumulation in rough Endoplasmic Reticulum (rER). Immunostaining showed that type II collagen was deposited intracellularly and in protein aggregates, together with type I collagen, indicating alterations in chondrocyte function and turnover of these molecules. DNA sequencing of 54 exons including extended DNA analysis with MLPA was non-conclusive. Conclusions: We suggest that patella alta and trochlea dysplasia for this patient is associated with collagen accumulation in chondrocytes, abnormal type II collagen heterofibrils in the ECM, cell death and cartilage with subnormal strength and increased risk of premature patellofemoral arthritis. A family with these disorders suggests that phenotype might be transmitted as an autosomal dominant trait.展开更多
Coronal shear fractures of distal humerus involving the capitellum and the trochlea are rare injuries with articular complexity, and are technically challenging for management. With better understanding of the anatomy...Coronal shear fractures of distal humerus involving the capitellum and the trochlea are rare injuries with articular complexity, and are technically challenging for management. With better understanding of the anatomy and imaging advancements, the complex nature of these fractures is well appreciated now. These fractures involve metaphysealcomminution of lateral column and associated intraarticular injuries are common. Previously, closed reduction and excision were the accepted treatment but now preference is for open reduction and internal fixation with an aim to provide stable and congruent joint with early range of motion of joint. Various approaches including extensile lateral, anterolateral and posterior approaches have been described depending on the fracture pattern and complexity. Good to excellent outcome have been reported with internal fixations and poor results are noted in articular comminution with associated articular injuries. Various implants including headleass compression screws, minifragment screws, bioabsorbable implants and column plating are advocated for reconstruction of these complex fractures. Inspite of articular fragments being free of soft tissue attachments the rate of osteonecrosis and osteoarthritis is reported very less after internal fixation. This article summarizes the diagnostic and treatment strategies for these rare fractures and recommendations for management.展开更多
AIM To evaluate our modified deepening trochleoplasty com-bined with a balanced medial patellofemoral ligament(MPFL) reconstruction for soft tissue alignement. METHODS Thirty-three knees with with recurrent patellar d...AIM To evaluate our modified deepening trochleoplasty com-bined with a balanced medial patellofemoral ligament(MPFL) reconstruction for soft tissue alignement. METHODS Thirty-three knees with with recurrent patellar dislocations and a trochlear dysplasia in 30 patients(m/f = 12/21, mean age 24 ± 9 years) underwent a combination of a modified deepening trochleoplasty and a balanced MPFL reconstruction for a medial soft tissue alignement. After a mean follow-up period of 29 ± 23 mo, patients' return to sports, possible complications as well as the clinical outcomes using the Kujala, International Knee Documentation Committee(IKDC) and Lysholm scoring were evaluated. Moreover, patients' satisfaction with the general outcome, the cosmetic outcome, the pre-and postoperative pain and a potential avoidance behaviour were assessed with additional standardized questionnaires which also included different visual analog scales. RESULTS There were no signs of a persistent instability. The Kujala score improved from a mean of 64 ± 16 points to 94 ± 9 points, the Lysholm score improved from a mean of 63 ± 17 to 95 ± 6 points and the IKDC score from 58 ± 11 to 85 ± 12 points, P < 0.0001, respectively. The assessment of pain using a visual analog scale showed a significant pain reduction from a mean of 4.8 ± 2.0 to 1.3 ± 3.4 points(P < 0.0001). Two of 26 cases(92%) who were engaged in regular physical activity before surgery did not return to full sporting activities. One patient felt that his sport was too risky for his knee and reported an ongoing avoidance behaviour. The other patient preferred to wait for surgery of her contralateral knee. Of the eight patients who were not engaged in sporting activities before surgery, three started regular sporting activities after surgery. In 31 of the 33 cases(94%), the patients were very satisfied with the clinical outcome of the surgery. Regarding the cosmetic results, no patients felt impaired in their self-confidence and in their clothing decisions. CONCLUSION Our technique shows a good clinical outcome in terms of the common scorings as well as in terms of pain, return to sports and patient satisfaction.展开更多
基金financially supported by Interface Biotech A/S,Horsholm,Denmark.
文摘The purpose of this study was to perform morphological and molecular analyses of articular cartilage from a 14-year-old boy with unusual cartilage lesions, patella alta and trochlea dysplasia in both knee joints and clinically examine two family members (sister, mother), also affected in their knee joints. Biopsies from the boy’s patella were used for: histological examination, Transmission Electron Microscopy (TEM) and DNA sequencing of the COL2A1 gene including Multiplex Ligation-dependent Probe Amplification (MLPA), for detection of DNA deletions and duplications. Clinical and radiological examination showed patella alta and trochlea dysplasia for the brother (type D), sister (type A) and mother (type A) with Insall-Salvati ratios of 1.50, 1.46 and 1.3. Light Microscopy (LM) of biopsies from the patient showed rhomboid chondrocytes in lacuna with deposition of protein aggregates in the ECM. TEM revealed abnormal type II collagen fibrils in aggregates and chondrocytes with abnormal matrix accumulation in rough Endoplasmic Reticulum (rER). Immunostaining showed that type II collagen was deposited intracellularly and in protein aggregates, together with type I collagen, indicating alterations in chondrocyte function and turnover of these molecules. DNA sequencing of 54 exons including extended DNA analysis with MLPA was non-conclusive. Conclusions: We suggest that patella alta and trochlea dysplasia for this patient is associated with collagen accumulation in chondrocytes, abnormal type II collagen heterofibrils in the ECM, cell death and cartilage with subnormal strength and increased risk of premature patellofemoral arthritis. A family with these disorders suggests that phenotype might be transmitted as an autosomal dominant trait.
文摘Coronal shear fractures of distal humerus involving the capitellum and the trochlea are rare injuries with articular complexity, and are technically challenging for management. With better understanding of the anatomy and imaging advancements, the complex nature of these fractures is well appreciated now. These fractures involve metaphysealcomminution of lateral column and associated intraarticular injuries are common. Previously, closed reduction and excision were the accepted treatment but now preference is for open reduction and internal fixation with an aim to provide stable and congruent joint with early range of motion of joint. Various approaches including extensile lateral, anterolateral and posterior approaches have been described depending on the fracture pattern and complexity. Good to excellent outcome have been reported with internal fixations and poor results are noted in articular comminution with associated articular injuries. Various implants including headleass compression screws, minifragment screws, bioabsorbable implants and column plating are advocated for reconstruction of these complex fractures. Inspite of articular fragments being free of soft tissue attachments the rate of osteonecrosis and osteoarthritis is reported very less after internal fixation. This article summarizes the diagnostic and treatment strategies for these rare fractures and recommendations for management.
文摘AIM To evaluate our modified deepening trochleoplasty com-bined with a balanced medial patellofemoral ligament(MPFL) reconstruction for soft tissue alignement. METHODS Thirty-three knees with with recurrent patellar dislocations and a trochlear dysplasia in 30 patients(m/f = 12/21, mean age 24 ± 9 years) underwent a combination of a modified deepening trochleoplasty and a balanced MPFL reconstruction for a medial soft tissue alignement. After a mean follow-up period of 29 ± 23 mo, patients' return to sports, possible complications as well as the clinical outcomes using the Kujala, International Knee Documentation Committee(IKDC) and Lysholm scoring were evaluated. Moreover, patients' satisfaction with the general outcome, the cosmetic outcome, the pre-and postoperative pain and a potential avoidance behaviour were assessed with additional standardized questionnaires which also included different visual analog scales. RESULTS There were no signs of a persistent instability. The Kujala score improved from a mean of 64 ± 16 points to 94 ± 9 points, the Lysholm score improved from a mean of 63 ± 17 to 95 ± 6 points and the IKDC score from 58 ± 11 to 85 ± 12 points, P < 0.0001, respectively. The assessment of pain using a visual analog scale showed a significant pain reduction from a mean of 4.8 ± 2.0 to 1.3 ± 3.4 points(P < 0.0001). Two of 26 cases(92%) who were engaged in regular physical activity before surgery did not return to full sporting activities. One patient felt that his sport was too risky for his knee and reported an ongoing avoidance behaviour. The other patient preferred to wait for surgery of her contralateral knee. Of the eight patients who were not engaged in sporting activities before surgery, three started regular sporting activities after surgery. In 31 of the 33 cases(94%), the patients were very satisfied with the clinical outcome of the surgery. Regarding the cosmetic results, no patients felt impaired in their self-confidence and in their clothing decisions. CONCLUSION Our technique shows a good clinical outcome in terms of the common scorings as well as in terms of pain, return to sports and patient satisfaction.
