Comparison between sex and polymorphisms on FKBP5: perception of quality of life in non-syndromic patients. A cross-sectional study.

This study aimed to compare factors that influence perception of quality of life (QoL) in patients scheduled for orthognathic surgery. This was a cross-sectional study with 91 participants from two universities in Curitiba. The orthognathic quality of life questionnaire (OQLQ) was used to assess patients' perceptions of their QoL. Sociodemographic data were collected and facial profiles classified into classes I, II, and III. DNA was extracted from oral mucosal cells and markers rs3800373 and rs1360780 for FKBP prolyl isomerase 5 were genotyped. Statistical analysis was performed using Kruskal-Wallis, Mann-Whitney, and chi-squared tests, with a significance level of 5%. There was a negative impact on general perception of QoL in females (p = 0.019) and in the domains of "oral function" (p=0.032) and "awareness of the deformity" (p=0.009). In the dominant model (CC/CT), the presence of at least one C allele for the rs1360780 marker had a negative impact on QoL in the "facial aesthetics" domain (p = 0.037). The negative impact on QoL was greater in females than in males. The perception of QoL was more negative in individuals with rs1360780 polymorphism on the FKBP5 gene and a CC/CT genotype than it was in those with a TT genotype.

Prevalence and associated factors of myofascial pain in orthognathic patients with skeletal class II malocclusion.

Orthognathic patients with skeletal class II malocclusion frequently suffer from myofascial pain (MP). PURPOSE: This study aimed to evaluate the prevalence and associated factors of MP in these patients. METHODS: This cross-sectional study was performed in adult patients with skeletal Class II malocclusion requiring orthognathic surgery. They were divided according to the presence or absence of MP. The predictor variables were craniofacial morphology, sex, temporomandibular disorders, chronic pain, depression, and polymorphisms of dopamine receptors DRD2 (rs6275 and rs6276) and ANKK1 (rs1800497) genes. Data were submitted to statistical analyses using the linear regression model and Poisson regression with a significance level of 0.05. RESULTS: Sixty-five individuals were selected, of which 50 (76.92%) were females. A total of 21 (32.3%) patients had MP. Individuals with MP showed a decrease in the mandible gonial angle (p = 0.042) and an increased risk of having temporomandibular joint (TMJ) disc displacement (p = 0.003), TMJ pain (p = 0.030), chronic pain (p = 0.001), and severe depression (p = 0.015). Additionally, individuals carrying AA and AG genotypes in rs6275, and CC genotype in rs6276, were more likely to have MP (p < 0.05). CONCLUSION: In this study, 32.3% of skeletal class II orthognathic patients had MP, which was associated with a decreased gonial angle, TMJ disc displacement, TMJ pain, chronic pain, depression, and polymorphisms in the DRD2 gene.

Odontogenesis-related candidate genes involved in variations of permanent teeth size.

OBJECTIVE: The aim of the study was to evaluate the association between genetic polymorphisms in RUNX2, BMP4, BMP2, TGFß1, EGF, and SMAD6 and variations in permanent tooth size (TS). MATERIALS AND METHODS: This cross-sectional study evaluated 110 individuals' dental casts to determine the maximum tooth crown size of all fully erupted permanent teeth (third molars were excluded) in the mesiodistal (MD) and buccolingual (BL) dimensions. Genomic DNA was obtained from the epithelial cells of the oral mucosa to evaluate the genetic polymorphisms in RUNX2 (rs59983488 and rs1200425), BMP4 (rs17563), BMP2 (rs235768 and rs1005464), TGFß1 (rs1800470), EGF (rs4444903), and SMAD6 (rs2119261 and rs3934908) through real-time PCR. The data were submitted to statistical analysis with a significance level of 0.05. RESULTS: The genetic polymorphisms rs59983488, rs1200425, rs17563, rs235768, rs1005464, rs1800470, and rs4444903 were associated with MD and BL TS of the upper and lower arches (p < 0.05). The polymorphism rs2119261 was associated with variation in TS only in the upper arch (p < 0.05). The rs3934908 was not associated with any TS measurement (p > 0.05). CONCLUSIONS: In summary, this study reports novel associations between variation in permanent TS and genetic polymorphisms in RUNX2, BMP4, BMP2, TGFß1, EGF, and SMAD6 indicating a possible role of these genes in dental morphology. CLINICAL RELEVANCE: Polymorphisms in odontogenesis-related genes may be involved in dental morphology enabling a prediction of permanent TS variability. The knowledge regarding genes involved in TS might impact the personalized dental treatment, considering that patients' genetic profile would soon be introduced into clinical practice to improve patient management.

Depression, temporomandibular disorders, and genetic polymorphisms in IL6 impact on oral health-related quality of life in patients requiring orthognathic surgery.

PURPOSE: To assess oral health-related quality of life (OHRQoL) in patients requiring orthognathic surgery, and evaluate if depression, temporomandibular disorders (TMD), and genetic polymorphisms in interleukin-6 (IL6) influence their OHRQoL. METHODS: A total of 132 individuals included in three different groups. Two groups were composed by patients with dentofacial deformity (DFD) Class II (n = 44) or Class III (n = 44) malocclusions, requiring orthognathic surgery. The control group (n = 44) included individuals without DFD. Patients from all groups were evaluated in preoperative appointments to assessOHRQoL, TMD, and genetic polymorphisms in IL6. OHRQoL was assessed using the 14-item Oral Health Impact Profile (OHIP-14). TMD and depression were assessed using Research Diagnostic Criteria for Temporomandibular Disorders protocol. The genetic polymorphisms rs1800795 and rs1800796 in IL6 were assessed through genomic DNA using real-time polymerase chain reaction. RESULTS: OHIP-14 scores were increased in patients with depression, myofascial pain, and inflammatory temporomandibular joint alterations in the right side, regardless of sex and DFD group. Individual homozygous CC in rs1800795 had increased values in domains "social disability" and "handicap" of the OHIP-14 compared with those who were homozygous GG. Individual heterozygous CG in the rs1800796 demonstrated increased values in domain "psychological discomfort" compared with those homozygous for CC and GG. CONCLUSION: In individuals requiring orthognathic surgery, depression, TMD, and genetic polymorphisms in IL6 contribute to negative impact on OHRQoL. These physical and emotional conditions, together with biological pathways, should receive more attention in treatment plans, in order to improve the patients' quality of life.

Marginal resection of solitary plasmacytoma in the anterior region of the mandible and dental implant rehabilitation: Report of an unusual case.

INTRODUCTION: Plasmacytoma describes a neoplastic proliferation of plasma cells affecting different groups of patients according to location, and may demonstrate heterogeneous tumor progression and survival rate. The present article describes a case of solitary plasmacytoma in the mandible. PRESENTATION OF CASE: A 57-year-old male smoker was referred to the oral and maxillofacial service with extensive injury, approximately 4-5 cm in size, involving the anterior inferior region of mandible. After confirming diagnosis of plasmacytoma through incisional biopsy, because it was a recurrent lesion, excision of the lesion was performed through marginal resection of the mandible under general anesthesia. During the same surgical procedure, a 2.4-mm system fixation plate was placed to mitigate the risk for pathological fracture of the mandible. In a second surgery, a region in the base of the mandible was rehabilitated using implants and prosthesis. CONCLUSION: The patient is currently undergoing clinical and radiological follow-up of 2 years with success.