Proteomic Expression Profile in Human Temporomandibular Joint Dysfunction.

Temporomandibular joint dysfunction (TMD) is a multifactorial condition that impairs human's health and quality of life. Its etiology is still a challenge due to its complex development and the great number of different conditions it comprises. One of the most common forms of TMD is anterior disc displacement without reduction (DDWoR) and other TMDs with distinct origins are condylar hyperplasia (CH) and mandibular dislocation (MD). Thus, the aim of this study is to identify the protein expression profile of synovial fluid and the temporomandibular joint disc of patients diagnosed with DDWoR, CH and MD. Synovial fluid and a fraction of the temporomandibular joint disc were collected from nine patients diagnosed with DDWoR (n = 3), CH (n = 4) and MD (n = 2). Samples were subjected to label-free nLC-MS/MS for proteomic data extraction, and then bioinformatics analysis were conducted for protein identification and functional annotation. The three TMD conditions showed different protein expression profiles, and novel proteins were identified in both synovial fluid and disc sample. TMD is a complex condition and the identification of the proteins expressed in the three different types of TMD may contribute to a better comprehension of how each pathology develops and evolutes, benefitting the patient with a focus-target treatment.

Association of estrogen receptor alpha 1 and TMJ dysfunction: A pilot study.

OBJECTIVE: Temporomandibular disorder (TMD) is a multifactorial condition and the most common cause of orofacial pain, affecting mostly women, which points to a female hormone predilection. Therefore, the aim of this study was to analyze the association between TMD and estrogen receptor alpha 1 expression in disks of patients with TMD and condyle fracture (CFx). STUDY DESIGN: Forty specimens (from 27 patients) included n = 8 CFx, n = 21 anterior disk displacement with reduction (ADDwR), and n = 11 anterior disk displacement without reduction (ADDwoR). Age, area, and intensity of immunostaining were statistically compared between CFx, ADDwR, and ADDwoR groups using analysis of variance and Kruskal-Wallis analysis (P < .05). RESULTS: No significant difference between CFx, ADDwR, and ADDwoR groups with respect to age and expression of estrogen receptor alpha 1 was observed on immunohistochemical examination. CONCLUSION: No association of estrogen receptor alpha 1 expression and age was found in the CFx, ADDwR, and ADDwoR groups.

Spontaneous Condyle-Like Development after Total Resection of Mandible Giant Osteochondroma: Case Report and a Follow-Up for Five Years.

Osteochondroma manifests as a benign tumor that occurs as an abnormal bony development. This tumor is commonly asymptomatic and presents an exophytic outgrowth on bone surfaces, near synovial joints, a condition that invariably induces evident facial deformities. Treatment for this type of tumor usually involves a surgical approach promoting a total or partial resection of the affected anatomical area associated to prosthetic reconstruction of the bone area extracted. We present a case report about a giant mandibular condyle osteochondroma in a 37-year-old female patient. Her treatment involved a total condylectomy without immediate condylar reconstruction, which would be performed in a posterior surgical approach. During the patient's follow-up (every 6 months of post operation), a spontaneous and rudimentary condyle-like formation was observed. Because the stomatognathic function and facial harmony were satisfactory, we observed the condyle-like development for 5 years of follow-up. Also, because both the aesthetic aspect and functional evolution of the maxillary bone were considered satisfactory, no complementary reconstruction surgical treatment was required for the giant osteochondroma of the mandibular condyle.

Clinical aspects and polymorphisms in the LTA, TNFA, LTB genes and association with dental implant loss.

BACKGROUND: This study shows the relationship between host factors and environmental factors in the influence of susceptibility to loss of dental implants. PURPOSE: The aim of this study was to investigate the association of clinical aspects and tag SNPs of the genes LTA, TNFA, and LTB with dental implant loss. MATERIALS AND METHODS: The subjects consisted of 244 patients, divided into two groups: control group (C)-163 individuals who did not lose any implants, being in function for at least 6 months; and study group (S)-81 individuals who had lost at least one implant. DNA was collected from saliva, and the genotypes were determined by real time PCR. Univariate and multivariate analysis were employed p < .05. RESULTS: After multivariate analysis, dental implant loss remained associated with the presence of teeth (p = .011), a larger amount of placed implants (p = .001), and allelle C of rs2009658 of the LTA gene (p = .006). For the other tag SNPs of these studied genes, there was no association between the groups C and S with dental implants loss. CONCLUSION: Presence of teeth, number of placed implants and allele C of rs2009658 of LTA gene were associated with implant loss.

Expression of MMP-13 in human temporomandibular joint disc derangement and osteoarthritis.

OBJECTIVE: MMP-13 performs digestion of collagen, which is a primary component of the temporomandibular joint (TMJ) articular disc. This study evaluated the expression of MMP-13 in patients with anterior disc displacement with (ADDwR) and without reduction (ADDwoR), and in the presence of TMJ osteoarthrosis. METHODS: Thirty-nine human temporomandibular joint disc samples were collected and divided in two ways: ADDwR (21 samples), ADDwoR (10 samples), and a control group (8 samples); and with osteoarthrosis (10 samples) and without osteoarthrosis (29 samples). Immunostaining of the TMJ discs was statistically compared between the groups. RESULTS: There was no statistically significant difference for the area of MMP-13 immunostaining between the control group, ADDwR, and ADDwoR, nor between groups with and without osteoarthrosis. CONCLUSION: This study suggests MMP-13 is not significantly involved in collagen degradation in human TMJ disc displacement or osteoarthrosis.

Interleukin-6 expression in disc derangement of human temporomandibular joint and association with osteoarthrosis.

The inflammatory process is a coordinated response that protects host after infection or trauma, involving several molecular reactions. Once the inflammation is closely linked to the process of destruction of the temporomandibular joint, this study aims to examine, by immunohistochemistry, the expression of interleukin-6 (IL-6), an important inflammatory marker, in temporomandibular articular discs of patients with anterior disc displacement with (ADDwR) and without reduction (ADDwoR) and its association with osteoarthrosis (OA). Thirty-eight (n = 38) articular discs were divided into two cutoffs: 1) analysis 1: 4 control (acute pathology), 17 ADDwR, 17 ADDwoR; and 2) analysis 2: without OA (n = 21) and with OA (n = 17). The area of immunostaining was compared statistically between groups (p < 0.05). In the disc samples, no significant differences were observed between the groups ADDwR and ADDwoR, and with and without OA, in respect to the expression of IL-6 by immunohistochemical examination. Future studies should be conducted with a larger sample size, which could clarify the association of the inflammatory mediator IL-6 with temporomandibular joint dysfunction.

Lactotransferrin Gene (LTF) Polymorphisms and Dental Implant Loss: A Case-Control Association Study.

BACKGROUND: Dental implants have been widely used to replace missing teeth, accomplishing aesthetics and function. Due to its large use worldwide, the small percentage of implant loss becomes significant in number of cases. Lactotransferrin (LTF) is a pleiotropic protein, expressed in various body tissues and fluids, which modulates the host immune-inflammatory response and bone metabolism, and might be involved in dental implant osseointegration. Recently, a few studies have been investigating genetic aspects underlying dental implant failure. PURPOSE: This case-control study aimed to investigate the association of genetic markers (tag SNPs) in LTF gene and clinical parameters with dental implant loss. MATERIAL AND METHODS: 278 patients, both sexes, mean age 51 years old, divided into 184 without and 94 with implant loss, were genotyped for sixteen tag SNPs, representative of the whole LTF gene. Also, clinical oral and systemic parameters were analyzed. Univariate and Multivariate Logistic Regression model were used to analyze the results (p < .05). RESULTS: No association was found between the tag SNPs and implant loss in the study population. Clinical association was found with medical treatment, hormonal reposition, edentulism, number of placed implants, plaque, calculus, and mobility. CONCLUSION: Clinical variables, but not LTF gene polymorphisms, were associated with implant loss.

FasL expression in articular discs of human temporomandibular joint and association with osteoarthrosis.

BACKGROUND: Apoptosis is a programme of cell death which does not induce an inflammatory response. Recent previous research has suggested a correlation between temporomandibular internal derangement and apoptosis. Fas ligand (FasL) is an apoptosis-inducing factor, known to trigger apoptosis through distinct signal pathways. This study aims to examine, by immunohistochemistry, the expression of FasL in temporomandibular joint (TMJ) articular discs of patients with anterior disc displacement with reduction (ADDwR) and without reduction (ADDwoR) in patients with and without osteoarthrosis (OA). METHODS: Forty-two (n = 42) TMJ articular discs were divided into two cut-offs: (i) 8 control, 17 ADDwR, 17 ADDwoR, and (ii) without OA (n = 25) and with OA (n = 17). The area of immunostaining was compared statistically between groups (P < 0.05). RESULTS: Statistically significant differences were found in the expression of FasL in TMJ discs between the three groups (P = 0.001). ADDwR presented significant higher FasL expression when compared with ADDwoR (P < 0.001). Significant higher FasL expression was observed in the group without OA (P = 0.001). All patients without OA presented ADDwR, while all the patients with OA presented ADDwoR. CONCLUSION: A higher area of in situ immunostaining of FasL was found in temporomandibular discs with reduction, which is the less severe condition. Moreover, a reduced expression of FasL in the discs of patients with osteoarthrosis was found, suggesting that some aspects of apoptosis might underlie the progression of TMJ disorders.

Analysis of polymorphisms in the lactotransferrin gene promoter and dental caries.

Regarding host aspects, there has been strong evidence for a genetic component in the etiology of caries. The salivary protein lactotransferrin (LTF) exhibits antibacterial activity, but there is no study investigating the association of polymorphisms in the promoter region of LTF gene with caries. The objective of this study was firstly to search the promoter region of the human LTF gene for variations and, if existent, to investigate the association of the identified polymorphisms with dental caries in 12-year-old students. From 687 unrelated, 12-year-old, both sex students, 50 individuals were selected and divided into two groups of extreme phenotypes according to caries experience: 25 students without (DMFT = 0) and 25 with caries experience (DMFT ≥ 4). The selection of individuals with extreme phenotypes augments the chances to find gene variations which could be associated with such phenotypes. LTF gene-putative promoter region (+39 to -1143) of the selected 50 individuals was analyzed by high-resolution melting technique. Fifteen students, 8 without (DMFT = 0) and 7 with caries experience (mean DMFT = 6.28), presented deviations of the pattern curve suggestive of gene variations and were sequenced. However, no polymorphisms were identified in the putative promoter region of the LTF gene.

What can be done when asymptomatic patients discover they have Brugada syndrome? A case report of Brugada syndrome.

Brugada syndrome is an inherited cardiac disorder associated with a specific electrocardiographic pattern, involving ST segment elevation in leads V1 to V3. When not spontaneously terminated, it can lead to ventricular fibrillation and sudden death. We present a case report of a young male whose brother suffered a sudden cardiac arrest while playing soccer. A novel mutation c.2678G>A was detected on the gene SCN5A through molecular diagnosis. The mutation was shown to be present in the individual, his daughter and his other brother. For patients with previous ventricular fibrillation and/or syncope, implantable cardiac device (ICD) is recommended. However, how can patients without symptoms but with a clear diagnosis prevent cardiac arrest?

Prevalence of THAP1 sequence variants in German patients with primary dystonia.

Primary dystonias are a clinically and genetically heterogeneous group of movement disorders, but only for two of them, i.e., dystonia 1 and dystonia 6, the disease causing gene has been identified. Dystonia 1 is characterized by an early onset and is caused by a mutation in the TOR1A gene. Only recently, mutations in THAP1 have been shown to be the cause of DYT6 dystonia. We analyzed 610 patients with various forms of dystonia for sequence variants in the THAP1 gene by means of high resolution melting to delineate the prevalence of sequence variants and phenotypic variability. We identified seven sequence variants in patients and one sequence variant in a control. The sequence variants were not detected in 537 healthy controls. Four patients present with generalized dystonia with speech involvement of early onset, another three patients suffered exclusively from cervical dystonia of adult onset. These findings suggest that THAP1 sequence variations seem to be associated with different ages of onset and distribution of symptoms. Consequently, the phenotypic spectrum might be broader than previously assumed.