Rare Association Between Osteogenesis Imperfecta and Chondrosarcoma: Could a Pathogenic Variant in the Gene SERPINF1 Explain It?

Osteogenesis imperfecta (OI) type VI is a rare inherited disorder of the connective tissue caused by pathogenic variants in SERPINF1 gene, which encodes the pigment epithelium-derived factor (PEDF). PEDF is implicated in many biologic processes, including an anti-cancer role. This information is supported by in vitro and in vivo studies that evidenced its anti-angiogenic, anti-tumorigenic, and anti-metastatic properties. Although OI is related to skeletal changes such as bone fragility and deformities, as well as to other connective tissue defects, it does not represent a greater predisposition to the development of skeletal tumors. Here, we report on an adult with OI in which a deletion in exon 8 of the SERPINF1 gene (c.1152_1170del; p.384_390del) was identified. The patient presented popcorn calcification in both femoral epiphyses, but one of them presented radiological characteristics and evolution suspected of malignancy. Later, it was diagnosed as chondrosarcoma. This paper discusses that OI type VI patients may be at risk of developing some types of cancer.

Professional football can be considered a healthy sport?

PURPOSE: This study aimed to compare the results of knee MRIs of former football players with no previous knee surgeries with non-regular practitioners of impact sports, matched by age and sex, and combine these results with other variables such as current quality of life and pain in the knees. METHODS: The study participants were 16 male former professional football players and 21 male volunteers from different non-sports professional areas. All participants underwent bilateral magnetic resonances. Specific knee evaluations with regard to osteoarthritis and quality of life were performed in both groups by applying the Knee Injury and Osteoarthritis Outcome Score (KOOS) subjective questionnaires and SF-36, respectively. RESULTS: The between-group comparison revealed significant differences on: pain, symptoms, and quality of life related to the knee in KOOS subscales; physical aspects and vitality subscale of SF-36; and former soccer players had worst magnetic resonances scores than controls. CONCLUSION: Results of this study indicate probable specific adverse effects associated with participating in professional football. LEVEL OF EVIDENCE: Cross-sectional study, Level III.

RADIOGRAPHIC ABNORMALITIES OF THE TALUS IN PATIENTS WITH CLUBFOOT AFTER SURGICAL RELEASE USING THE MCKAY TECHNIQUE.

OBJECTIVE: To analyze morphological abnormalities of the talus in patients with clubfoot after surgical treatment using the McKay technique. METHOD: Lateral standing-position radiographs of the feet of 14 patients with unilateral clubfoot who underwent treatment by means of the doubleincision McKay technique were retrospectively analyzed. All the patients were operated by the same surgeon, with an average of 6.53 years between surgery and the radiograph. We compared the radiographic characteristics of the talus between the operated and the contralateral foot. We assessed the presence of deformity of the talar dome and head (sphericity evaluation); the talar length and height; the percentage and degree of navicular subluxation; abnormalities of the Gissane angle; and the trabecular bone pattern. RESULTS: Abnormalities of the talar head occurred in 92.8% of the patients; of the talar dome in 92.8%; and of the trabecular pattern in 100%. The talar length ratio between the operated and the contralateral foot ranged from 0.61 to 0.88 (mean 0.79; SD = 0.09), while the height ratio ranged from 0.57 to 0.98 (mean 0.82; SD = 0.12). The Gissane angle was greater in all of the operated feet, and all of them also showed navicular subluxation, at a rate ranging from 6.43 to 59.75% (mean 26.34%; SD = 16.66%). CONCLUSION: Talar abnormalities occurred in 100% of the feet treated using the McKay technique. It was shown that establishing radiographic parameters to describe and quantify these deformities was feasible, through simple and easy-to-perform techniques.