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.

Fatores associados a piores níveis na escala de Burnout em professores da educação básica / Factors associated with worse levels in the Burnout scale in basic education teachers

Resumo A Síndrome de Burnout resulta do estresse crônico no trabalho e é composta por três dimensões: exaustão emocional, despersonalização e realização profissional. Objetivou-se identificar, em professores da educação básica de Londrina, no Paraná, fatores associados a piores níveis nessas dimensões. Trata-se de estudo transversal realizado entre agosto de 2012 e junho de 2013. Foram pesquisadas características sociodemográficas, ocupacionais, relacionamentos na escola, violência contra o professor e Síndrome de Burnout por meio da escala Maslach Burnout Inventory (MBI). Pontuações > percentil 75 na MBI (exaustão emocional e despersonalização) ou < percentil 25 (realização profissional) foram consideradas como piores níveis. Foram realizadas análises bivariadas e múltiplas por regressão de Poisson. Participaram da pesquisa 804 professores. Após ajustes, relacionamento ruim/regular com alunos associou-se a piores níveis nas três dimensões da escala. Tempo insuficiente para família/lazer e relacionamento ruim/regular com pais permaneceram significativos para piores níveis de exaustão emocional e de despersonalização. Violência física, quantidade de alunos considerada ruim/regular e infraestrutura ruim da escola ainda se mantiveram associadas a piores níveis de despersonalização, enquanto oportunidade ruim/regular para expressar opiniões no trabalho associou-se à baixa realização profissional. Ambiente de trabalho hostil e outros fatores laborais devem ser priorizados por políticas de prevenção da Síndrome de Burnout em professores.

Abstract Burnout syndrome results from chronic occupational stress and is composed by three dimensions emotional exhaustion, depersonalization (cynicism) and professional fulfillment. The study aimed to identify, in basic education teachers from Londrina, Brazil, factors associated with worse levels in these dimensions. This is a cross-sectional study, conducted between August 2012 and June 2013 that gathered information on socio-demographic and occupational characteristics, relationships in school, violence, and burnout syndrome (by means of the Maslach Burnout Inventory - MBI). Scores over the percentile 75 in the MBI (exhaustion and cynicism) or below the percentile 25 (professional fulfillment) were considered the worse levels. Bivariate and Poisson multiple regressions analyses were conducted. A total of 804 teachers participated in the study. After adjustments, bad/fair relationship with students was associated with worse levels in the three BMI dimensions. Insufficient time for family/leisure and bad/fair relationship with students' parents remained significantly associated with higher levels of exhaustion and cynicism. Physical violence, high number of students and bad school infrastructure were associated with worse levels of cynicism, while bad/fair opportunity to express opinions at work with low professional fulfillment. Hostile work environment and other labor factors should be prioritized by policies in order to prevent burnout syndrome among teachers.