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.

New technology REMS for bone evaluation compared to DXA in adult women for the osteoporosis diagnosis: a real-life experience.

Osteoporosis is a prevalent skeletal disorder in postmenopausal women. REMS represents a potential technology for osteoporosis diagnosis in clinical practice. OBJECTIVE: To assess the accuracy of Radiofrequency Echographic Multi Spectrometry (REMS) technology in diagnosing osteoporosis in comparison with dual X-ray absorptiometry (DXA) on a population of Brazilian women. METHODS: A population of women age ranged between 30 and 80 was recruited at DXA Service of São Paulo School-Hospital, Brazil. They underwent REMS and DXA scans at the axial sites. The REMS accuracy for the osteoporosis diagnosis was evaluated in comparison with DXA on both sites. The intra-operator and inter-operator coefficient of variation (CV) was also calculated. RESULTS: A total of 343 patients were enrolled in the study. Erroneous scans due to poor quality acquisitions with both methods or to other technical reasons were excluded; 227 lumbar spine exams and 238 hip exams were acceptable for comparison analysis. The comparison between REMS and DXA outcomes showed that the average difference in BMD (expressed as bias±1.96 SD) was -0.026±0.179g/cm2 for the spine and -0.027±0.156g/cm2 for the femoral neck. When accepted 0.3 tolerance on T-score, there were no cases diagnosed as osteoporosis by DXA that were defined as normal by REMS. The REMS intra-operator CV was 0.51% for the lumbar spine and 1.08% for the femoral neck. The REMS inter-operator CV was 1.43% for the lumbar spine and 1.93% for the femoral neck. CONCLUSION: The REMS approach had high accuracy for the diagnosis of osteoporosis in comparison with DXA in adult women. According to our results, this new technology has shown to be a promising alternative for populations without access to DXA densitometry.

Resistência induzível à clindamicina entre isolados clínicos de Staphylococcus aureus / Resistencia inducible a clindamicina entre aislados clínicos de Staphylococcus aureus / Inducible clindamycin resistance in cinical isolates of Staphylococcus aureus

Falhas terapêuticas que ocorrem em tratamentos com clindamicina podem ser devido aos múltiplos mecanismos que conferem resistência aos antimicrobianos macrolídeos, lincosamidas e estreptogramina. Este estudo foi realizado para detectar a presença de resistência induzível à clindamicina em isolados clínicos de Staphylococcus aureus, por meio do D-teste, usando o disco de eritromicinae clindamicina segundo preconizado pelo CLSI, e sua relação com a resistência a oxacilina. A resistência MLSBc foi verificada em 79,06% dos MRSA e a resistência MLSBi em 4,65%. Para os MSSA, o fenótipo MLSBc foi de 2,88% e o fenótipo MLSBi foi de 6,73%. A resistência ao grupo MLS e a expressão constitutiva foi mais comum entre os isolados MRSA, e a frequência de MLSBi foi mais frequente em MSSA do que em MRSA. O fenótipo induzível pode comprometer a eficácia da clindamicina, portanto recomenda-se a realização do teste de indução e o monitoramento constante da susceptibilidade a droga dos isolados de S. aureus, considerando a necessidade de controle epidemiológico e terapêutico.

Fallas terapéuticas ocurridas en tratamientos con clindamicina pueden ser causadas por los múltiples mecanismos que confieren resistencia a los antimicrobianos macrólidos, lincosamidas y estreptograminas. Este estudio fue ejecutado para detectar la presencia de resistencia inducible a clindamicina en aislados clínicos de Staphylococcus aureus de promedio la prueba D, utilizando el disco de eritromicina y clindamicina que recomienda el CLSI, y su relación con la resistencia a oxacilina. La resistencia MLSBc fue verificada en el 79.06% por ciento de los MRSA y la resistencia MLSBi en el 4.65%. En cuanto a los MSSA, el fenotipo MLSBc alcanzó el 2.88% y el fenotipo MLSBi el 6.73%. La resistencia al grupo MLS y la expresión constitutiva fueran mas comunes entre el los aislados MRSA, y la frecuencia de MLSBi fue mas grande en MSSA que en MRSA. El fenotipo inducible puede comprometer la eficacia de la clindamicina, se recomendando por lo tanto la realización de pruebas de inducción y la monitoración constante de la susceptibilidad a drogas de los aislados de S. aureus, en vista de la necesidad del control epidemiólogo y terapéutico.

Clinical failure of clindamycin therapy has been reported due to multiple mechanisms that confer resistance to macrolide, lincosamide and streptogramin antibiotics. This study was undertaken to detect the presence of inducible clindamycin resistance amongclinical isolates of Staphylococcus aureus, by D-test, using erythromycin and clindamycin disks as per CLSI, and its relationship to oxacilin resistance. In this study, 79,065 of MRSA presented the phenotype MLSBc, and 4,65% the phenotype MLSBi, and 2,88% and 6,73% of MSSA, respectively. The resistance to MLS group and constitutive expression were more common among the MRSA isolates, and the MLSBi frequency was higher in MSSA than MRSA. The inducible phenotype can compromise the clindamycin efficacy, therefore both the inducible test and the constant monitoring of susceptibility to this drug in the S. aureus isolates are recommended, considering the necessity of epidemiology control and therapy.