ABSTRACT
The occurrence and severity of osteonecrosis in sickle cell anaemia (SCA) vary due to risk factors, including genetic modifiers. Bone morphogenetic proteins (BMPs), particularly BMP6, and the vitamin D receptor (VDR) play key roles in cartilage and bone metabolism, making them potential contributors to orthopaedic outcomes in SCA. Here, we evaluated the association of polymorphisms in BMP6 (rs3812163, rs270393 and rs449853) and VDR (FokI rs2228570 and Cdx2 rs11568820) genes with osteonecrosis risk in a Brazilian SCA cohort. A total of 177 unrelated SCA patients were selected. The AA genotype of BMP6 rs3812163 was independently associated with a lower osteonecrosis risk (p = 0.015; odds ratio (OR): 0.38; 95% confidence interval (CI): 0.18-0.83) and with the long-term cumulative incidence of osteonecrosis (p = 0.029; hazard ratio: 0.56, 95% CI: 0.34-0.94). The VDR rs2228570 TT genotype was independently associated with a lower osteonecrosis risk (p = 0.039; OR: 0.14; 95% CI: 0.02-0.90). In summary, our results provide evidence that BMP6 rs3812163 and the VDR rs2228570 might be implicated in osteonecrosis pathophysiology in SCA and might help identify individuals at high risk.
Subject(s)
Anemia, Sickle Cell , Osteonecrosis , Humans , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide , Risk Factors , Osteonecrosis/genetics , Anemia, Sickle Cell/complications , Anemia, Sickle Cell/genetics , Genotype , Case-Control Studies , Bone Morphogenetic Protein 6/genetics , Receptors, Calcitriol/geneticsABSTRACT
STATEMENT OF PROBLEM: Occlusal devices are the gold standard for managing the signs and symptoms of sleep bruxism (SB). Nevertheless, their influence on the tongue, quality of life, and sleep quality is not clear. PURPOSE: The purpose of this prospective clinical study was to evaluate the effects of an occlusal device on maximum tongue force, oral health-related quality of life (OHRQoL), and subjective sleep quality in individuals with SB. The correlation between maximum tongue force and tongue size and that between tongue size and dental arch size ratio were also assessed. MATERIAL AND METHODS: SB was diagnosed by clinical examination and by using the Bruxoff device. Fifteen bruxers received occlusal devices, and another 15 received palatal devices without occlusal coverage (control). Maximum tongue force was measured by using force sensors, while the Oral Health Impact Profile (OHIP-14) was used to evaluate OHRQoL. Subjective sleep quality data were obtained by using the Pittsburgh Sleep Quality Index (PSQI). Tongue size was measured by ultrasonography, while the dental arch size was considered as the distance between the mandibular right and left first molars. After baseline measurement, participants used the devices at night, and the variables were reevaluated after 30 and 60 days. Comparisons between groups and among time points were performed with analysis of variance in a generalized linear mixed model and Tukey-Kramer test as post hoc. Correlations were analyzed by the Pearson test. RESULTS: Maximum tongue force decreased after wearing both devices for 30 days (P<.001). OHIP-14 and PSQI scores also reduced on day 30 (both P<.001). Maximum tongue force was not correlated with tongue size nor the ratio between tongue size and dental arch size. CONCLUSION: Intraoral devices reduced maximum tongue force and improved OHRQoL and subjective sleep quality in bruxers.
