Farnesyl Diphosphate Synthase Gene Associated with Loss of Bone Mass Density and Alendronate Treatment Failure in Patients with Primary Osteoporosis.

Aminobisphosphonates (NBPs) are the first-choice medication for osteoporosis (OP); NBP treatment aims at increasing bone mineral density (BMD) by inhibiting the activity of farnesyl diphosphate synthase (FDPS) enzyme in osteoclasts. Despite its efficacy, inadequate response to the drug and side effects have been reported. The A allele of the rs2297480 (A > C) SNP, found in the regulatory region of the FDPS gene, is associated with reduced gene transcription. This study evaluates the FDPS variant rs2297480 (A > C) association with OP patients' response to alendronate sodium treatment. A total of 304 OP patients and 112 controls were enrolled; patients treated with alendronate sodium for two years were classified, according to BMD variations at specific regions (lumbar spine (L1-L4), femoral neck (FN) and total hip (TH), as responders (OP-R) (n = 20) and non-responders (OP-NR) (n = 40). We observed an association of CC genotype with treatment failure (p = 0.045), followed by a BMD decrease in the regions L1-L4 (CC = -2.21% ± 2.56; p = 0.026) and TH (CC = -2.06% ± 1.84; p = 0.015) after two years of alendronate sodium treatment. Relative expression of the FDPS gene was also evaluated in OP-R and OP-NR patients. Higher expression of the FDPS gene was also observed in OP-NR group (FC = 1.84 ± 0.77; p = 0.006) when compared to OP-R. In conclusion, the influence observed of FDPS expression and the rs2897480 variant on alendronate treatment highlights the importance of a genetic approach to improve the efficacy of treatment for primary osteoporosis.

Relação do processamento sensorial e sistema estomatognático de crianças respiradoras orais / Relation of sensory processing and stomatognical system of oral respiratory children

RESUMO Objetivo Verificar a relação entre o processamento sensorial e as alterações das funções do Sistema Estomatognático de crianças respiradoras orais, caracterizando o processamento sensorial destas e comparando-o com o de respiradoras nasais. Método Foram selecionadas 50 crianças (5 a 12 anos) que apresentaram diagnóstico de respiração oral e 50 sem sinais e sintomas de respiração oral ou rinite alérgica para fazer parte do grupo controle, pareadas por idade e sexo. As crianças respiradoras orais e nasais passaram por avaliação do processamento sensorial, através da Sensory Processing Measure - Home form, e as respiradoras orais por avaliação da motricidade orofacial através da Avaliação Miofuncional Orofacial com Escore. Os resultados foram apresentados em forma de tabela e com suas respectivas frequências absoluta e relativa. Resultados A maioria das crianças avaliadas foi do sexo masculino, estando com idade média de 8 anos. A maioria dos respiradores orais apresentou alteração no processamento de todos os sentidos, com relação estatisticamente significativa quando comparados com os respiradores nasais. Houve relação, nos respiradores orais, entre o processamento sensorial proprioceptivo e o movimento das bochechas, processamento sensorial visual e movimentação da cabeça durante a deglutição e entre o tipo de mastigação e o processamento sensorial tátil. Conclusão Após análise dos dados foi possível perceber que o processamento sensorial de todos os sistemas se apresenta com alteração nos respiradores orais e que esse mau processamento se relaciona a mobilidade orofacial, bem como com funções do Sistema Estomatognático, além do tipo de mastigação dessa população.

ABSTRACT Purpose To verify the relationship between sensory processing and changes in the functions of the stomatognathic system in mouth breathing children, characterizing their sensory processing and comparing it with that of nasal breathing children. Methods 50 children (5 to 12 years) who were diagnosed with mouth breathing and 50 without signs and symptoms of mouth breathing or allergic rhinitis were selected to be part of the control group, matched for age and sex. Oral and nasal breathing children underwent sensory processing evaluation, through the Sensory Processing Measure - home form, and mouth breathers, through the evaluation of orofacial motricity through the Orofacial Myofunctional Evaluation with score. The results were presented in table form and with their respective absolute and relative frequencies. Results Most of the children evaluated were male, with an average age of eight years. Most mouth breathers presented alteration in the processing of all senses, with a statistically significant relationship when compared to nasal breathers. There was a relationship, in mouth breathers, between proprioceptive sensory processing and the movement of the cheeks, visual sensory processing and head movement during swallowing, and between the type of chewing and tactile sensory processing. Conclusion After analyzing the data, it was possible to see that the sensory processing of all systems presents with changes in mouth breathers and that this poor processing is related to orofacial mobility, as well as functions of the stomatognathic system, in addition to the type of chewing of this population.