Project description:Current genetic testenhancer and narrows the diagnostic intervals for rare diseases provide a diagnosis in only a modest proportion of cases. The Full-Genome Analysis method, FGA, combines long-range assembly and whole-genome sequencing to detect small variants, structural variants with breakpoint resolution, and phasing. We built a variant prioritization pipeline and tested FGA's utility for diagnosis of rare diseases in a clinical setting. FGA identified structural variants and small variants with an overall diagnostic yield of 40% (20 of 50 cases) and 35% in exome-negative cases (8 of 23 cases), 4 of these were structural variants. FGA detected and mapped structural variants that are missed by short reads, including non-coding duplication, and phased variants across long distances of more than 180 kb. With the prioritization algorithm, longer DNA technologies could replace multiple tests for monogenic disorders and expand the range of variants detected. Our study suggests that genomes produced from technologies like FGA can improve variant detection and provide higher resolution genome maps for future application.
Project description:BackgroundThe diagnosis of temporomandibular disorders (TMDs) is an important part of the functional cerebrospinal technique (FCST). In addition, surface electromyography (sEMG) is an important candidate for diagnosing TMD. In FCST, despite the importance of the cranio-cervical-mandibular system, few sEMG parameters consider TMDs. Thus, this study evaluated the possibility of TMD diagnosis by sEMG.MethodsThe study was conducted as an assessor-blinded cross-sectional study. Each of 35 participants were recruited for patient group and normal group separately based on the Diagnostic Criteria for TMD Symptoms Questionnaire (DC/TMD SQ). The sEMG was measured by attaching electrodes to sternocleidomastoid muscles (SCMM) and masseter muscles (MM) before and after wearing the temporomandibular joint balance appliance (TBA).ResultsThe percentage overlapping coefficient (POC) value of the healthy control group was increased compared with the TMD group. Receiver operating characteristic (ROC) analysis revealed that the area under the curve (AUC) value of the SCMM was greater than that of the MM. POC values before and after the SCMM also revealed significant changes compared to the MM.ConclusionThis study showed that the sEMG measurement of the SCMM is useful for TMD diagnosis in traditional Korean medicine.
Project description:Bone degradation of the condylar surface is seen in temporomandibular joint osteoarthritis (TMJ OA); however, the initial changes occur in the subchondral bone. This cross-sectional study was performed to evaluate 23 subchondral bone imaging biomarkers for TMJ OA. The sample consisted of high-resolution cone beam computed tomography scans of 84 subjects, divided into two groups: TMJ OA (45 patients with TMJ OA) and control (39 asymptomatic subjects). Six regions of each mandibular condyle scan were extracted for computation of five bone morphometric and 18 grey-level texture-based variables. The groups were compared using the Mann-Whitney U-test, and the receiver operating characteristics (ROC) curve was determined for each variable that showed a statically significance difference. The results showed statistically significant differences in the subchondral bone microstructure in the lateral and central condylar regions between the control and TMJ OA groups (P< 0.05). The area under the ROC curve (AUC) for these variables was between 0.620 and 0.710. In conclusion, 13 imaging bone biomarkers presented an acceptable diagnostic performance for the diagnosis of TMJ OA, indicating that the texture and geometry of the subchondral bone microarchitecture may be useful for quantitative grading of the disease.
Project description:By analogy with the journal's title Pain Research and Management, this review describes TMD Research and Management. More specific are the (1) research aspects of "occlusion," still one of the most controversial topics in TMD, and (2) as much as possible evidence-based management aspects of "TMD" for the dental practitioner. Research. The disorders temporomandibular dysfunction and the synonymous craniomandibular dysfunction are still being discussed intensely in the literature. Traditionally, attention is mostly devoted to occlusion and its relationship with these disorders. The conclusions reached are often contradictory. Considering the definitions of temporomandibular and craniomandibular dysfunctions/disorders and "occlusion," a possible explanation for this controversy can be found in the subsequent methodological problems of the studies. Based on a Medline search of these terms over the past 40 years related to contemporary terms such as "Evidence Based Dentistry" and "Pyramid of Evidence," these methodological aspects are examined, resulting in recommendations for future research and TMD-occlusal therapy. Management. To assist the dental practitioner in his/her daily routine to meet the modern standards of best practice, 7 guidelines are formulated that are explained and accompanied with clinical examples for an evidence-based treatment of patients with this disorder in general dental practices.
Project description:The temporomandibular joint (TMJ) has many essential functions. None of its components are exempt from injury. Facial asymmetry, malocclusion, disturbances in growth, osteoarthritis, and ankylosis can manifest as complications from trauma to the TMJ. The goals of initial treatment include achievement of pretraumatic function, restoration of facial symmetry, and resolution of pain. These same objectives hold true for late repairs and reconstruction of the TMJ apparatus. Treatment is demanding, and with opposing approaches. The following article explores various treatment options for problems presenting as a result of a history of trauma to the TMJ.
Project description:The objective of this study was to use high-resolution cone-beam computed images (hr- CBCT) to diagnose degenerative joint disease in asymptomatic and symptomatic subjects using the Diagnostic Criteria for Temporomandibular Disorders DC/TMD imaging criteria. This observational study comprised of 92 subjects age-sex matched and divided into two groups: clinical degenerative joint disease (c-DJD, n = 46) and asymptomatic control group (n = 46). Clinical assessment of the DJD and high-resolution CBCT images (isotropic voxel size of 0.08mm) of the temporomandibular joints were performed for each participant. An American Board of Oral and Maxillofacial Radiology certified radiologist and a maxillofacial radiologist used the DC/TMD imaging criteria to evaluate the radiographic findings, followed by a consensus of the radiographic evaluation. The two radiologists presented a high agreement (Cohen's Kappa ranging from 0.80 to 0.87) for all radiographic findings (osteophyte, erosion, cysts, flattening, and sclerosis). Five patients from the c- DJD group did not present radiographic findings, being then classified as arthralgia. In the asymptomatic control group, 82.6% of the patients presented radiographic findings determinant of DJD and were then classified as osteoarthrosis or overdiagnosis. In conclusion, our results showed a high number of radiographic findings in the asymptomatic control group, and for this reason, we suggest that there is a need for additional imaging criteria to classify DJD properly in hr-CBCT images.
Project description:BackgroundFemoral torsion is primarily measured by computed tomography (CT), which has cost and radiation exposure concerns. Recently, femoral anteversion measurement by a simple radiograph-based mobile application was developed for patients with cerebral palsy. This study aimed to validate the use of a mobile application that can reconstruct a three-dimensional model of the femur from conventional radiographs for adults.MethodsMedical records of 76 patients undergoing conventional femur anteroposterior/lateral radiography and femur CT were reviewed. To measure femoral anteversion on the reconstructed 3-dimensional images from both the mobile application and CT, we drew a line which connects the posterior margins of each femoral condyle and another line which passes through the center of the femoral head and the midpoint of the femoral neck. After the reliability test, a single examiner measured femoral anteversion on the mobile application and CT. Pearson's correlation analysis was used to assess the correlation between anteversion on the mobile application and CT.ResultsFemoral anteversion measured on both CT and the mobile application showed excellent reliability (intraclass correlation coefficients: 0.808-0.910). The correlation coefficient between femoral anteversion measured using CT and the mobile application was 0.933 (p < 0.001). The correlation of femoral anteversion between CT and the mobile application was relatively higher in the absence of metallic implants (correlation coefficient: 0.963, p < 0.001) than in the presence of metallic implants (correlation coefficient: 0.878, p < 0.001).ConclusionsUsing two simple radiographs, the mobile application showed excellent validity and reliability for femoral anteversion measurement in adults as compared to CT. With the high accessibility and cost-effectiveness of this mobile application, femoral torsion measurement might be easily performed with simple radiography in clinical settings in the near future.
Project description:Multiple physiological and psychological regulatory domains may contribute to the pathophysiology of pain in temporomandibular disorder (TMD) and other bodily pain conditions. The purpose of this study was to evaluate the relationship between multisystem dysregulation and the presence of TMD pain, as well as the presence of different numbers of comorbid pain conditions in TMD. Secondary data analysis was conducted in 131 non-TMD (without comorbid pain) controls, 14 TMD subjects without comorbid pain, 78 TMD subjects with 1 comorbid pain, and 67 TMD subjects with multiple comorbid pain conditions who participated in a TMD genetic study. Twenty markers from sensory, autonomic, inflammatory, and psychological domains were evaluated. The results revealed that 1) overall dysregulation in multiple system domains (OR [odds ratio] = 1.6, 95% confidence interval [CI] = 1.4-1.8), particularly in the sensory (OR = 1.9, 95% CI = 1.3-2.9) and the psychological (OR = 2.1, 95% CI = 2.1-2.7) domains, were associated with increased likelihood of being a painful TMD case; and 2) dysregulations in individual system domains were selectively associated with the increased odds of being a TMD case with different levels of comorbid persistent pain conditions. These outcomes indicate that heterogeneous multisystem dysregulations may exist in painful TMD subgroups, and multidimensional physiological and psychological assessments can provide important information regarding pathophysiology, diagnosis, and management of pain in TMD patients.The concurrent assessment of multiple physiological and psychological systems is critical to our understanding of the pathophysiological processes that contribute to painful TMD and associated comorbid conditions, which will ultimately guide and inform appropriate treatment strategies that address the multisystem dysregulation associated with complex and common persistent pain conditions.