scholarly journals Involvement of an FTO gene polymorphism in the temporomandibular joint osteoarthritis

Author(s):  
Ryota Takaoka ◽  
Kotaro Kuyama ◽  
Hirofumi Yatani ◽  
Shoichi Ishigaki ◽  
Hiroki Kayashima ◽  
...  

Abstract Objectives The FTO gene has been reported as an obesity-associated gene and is also considered a risk gene for osteoarthritis (OA). However, its exact function is unclear, and there is conflicting evidence on the involvement of FTO polymorphisms in OA via obesity. The purpose of this study was to determine the effects of FTO polymorphism rs8044769 alleles on OA in the temporomandibular joint (TMJ), which is minimally affected by body weight. Materials and methods A total of 324 TMJs (113 with OA and 211 without OA, serving as controls) from 162 Japanese patients with temporomandibular disorders and undergoing MRI examination were analyzed. Genotyping was conducted, and multivariate analysis was performed after adjusting for the effects of age, sex, body mass index, and TMJ disc abnormalities. Results Mean age, BMI, and sex did not differ between the TMJs with OA and the TMJs without OA, but a significant difference was found for positional and dynamic disc abnormalities (P < 0.05). The allele frequency of FTO polymorphisms also differed significantly between the TMJs with OA and the TMJs without OA (P = 0.011). Moreover, logistic regression analysis showed no significant association between BMI (P = 0.581) and the occurrence of TMJOA but also indicated that the CC allele of rs8044769 is a risk factor for TMJOA (P = 0.040). Conclusions Our results show that rs8044769 in the FTO gene might be involved in TMJOA. Clinical relevance The present study provides a basis for a deeper understanding of the mechanism underlying degenerative skeletal diseases and the more effective selection and development of treatment strategies based on the patients’ genetic characteristics.

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Mamoru Tokunaga ◽  
Kenichiro Okimoto ◽  
Naoki Akizue ◽  
Kentaro Ishikawa ◽  
Yosuke Hirotsu ◽  
...  

AbstractThe genetic characteristics of Barrett’s esophagus (BE) and esophageal adenocarcinoma (EAC) in the Japanese population is unclear. This study aims to investigate the genetic characteristics from nondysplastic BE (NDBE) to early EAC in Japan. Clinical information was collected. Moreover, the genetic profile of NDBE without concurrent dysplasia, early EAC, and surrounding BE were also investigated using endoscopic biopsy samples and formalin-fixed, paraffin-embedded specimens from Japanese patients by targeted next-generation sequencing. Immunohistochemical staining for p53 was also performed for EAC lesions. Targeted NGS was performed for 33 cases with 77 specimens. No significant difference exists in the NDBE group between the number of putative drivers per lesion in the short-segment Barrett’s esophagus (SSBE) and long-segment Barrett’s esophagus (LSBE) [0 (range, 0–1) vs. 0 (range, 0–1). p = 1.00]. TP53 putative drivers were found in two patients (16.7%) with nondysplastic SSBE. TP53 was the majority of putative drivers in both BE adjacent to EAC and EAC, accounting for 66.7% and 66.7%, respectively. More putative drivers per lesion were found in the EAC than in the NDBE group [1 (range, 0–3) vs. 0 (range, 0–1). p < 0.01]. The genetic variants of TP53 in the Japanese early EAC were similar to those in western countries. However, TP53 putative drivers were detected even in Japanese patients with nondysplastic SSBE. This is significant because such nondysplastic SSBE might have higher risk of progressing to high-grade dysplasia or EAC. The risks of progression may not be underestimated and appropriate follow-ups may be necessary even in patients with SSBE.Trial registration: This study was registered at the University Hospital Medical Information Network (UMIN000034247).


2020 ◽  
Author(s):  
Mengying Jia ◽  
Yaoguang Lv ◽  
Yingjie Xu ◽  
Zhoncheng Gong

Abstract Background: Pyroptosis is the highlight topic in inflammation. However, there is rarely research on relationship between pyroptosis and temporomandibular joint osteoarthritis (TMJOA), The aim of this study is to explore whether pyroptosis related molecules are significant for condylar cartilage degeneration and to verify the clinical effects of sodium hyaluronic acid (HA) treatment on TMJOA.Methods: Patients diagnosed as temporomandibular joint internal derangement (TMJID) without condylar defect and TMJOA with condylar defect were divided into two groups. Thirty patients in each group, and they were tested for pyroptosis related molecules via synovial fluid included interleukin-1beta (IL-1β), IL-18, nucleotide-binding oligomerization domain-like receptor pyrin domain containing 3 (NLRP3), cysteinyl aspartate specific proteinase 1 (CASP1) with Enzyme-linked immunosorbent assay(Elisa). Eighteen cases in TMJOA group were tested again after twice HA treatment to evaluate HA’s therapeutic effects. Results: IL-1β, IL-18, NLRP3 and CASP1 were all positive in two groups, TMJOA patients with condylar defect had higher expressions of above molecules compared with TMJID patients (P<0.05). IL-1β, IL-18, NLRP3 were decreased with twice HA therapy (P<0.05), there was no significant difference in CASP1 with twice HA injections (P=0.549). Conclusions: Cell pyroptosis may be involved in condylar degeneration. HA could reduce part of pyroptosis molecules to relieve inflammation.


2021 ◽  
Author(s):  
Mamoru Tokunaga ◽  
Kenichiro Okimoto ◽  
Naoki Akizue ◽  
Kentaro Ishikawa ◽  
Yosuke Hirotsu ◽  
...  

Abstract The genetic characteristics of Barrett’s esophagus (BE) and esophageal adenocarcinoma (EAC) in the Japanese population is unclear. This study aims to investigate the genetic characteristics from nondysplastic BE (NDBE) to early EAC in Japan. Clinical information was collected. Moreover, the genetic profile of NDBE without concurrent dysplasia, early EAC, and surrounding BE were also investigated using endoscopic biopsy samples and formalin-fixed, paraffin-embedded specimens from Japanese patients by targeted next-generation sequencing. Immunohistochemical staining for p53 was also performed for EAC lesions. Targeted NGS was performed for 33 cases with 77 specimens. No significant difference exists in the NDBE group between the number of putative drivers per lesion in the short-segment Barrett’s esophagus (SSBE) and long-segment Barrett’s esophagus (LSBE) [0 (range, 0–1) vs. 0 (range, 0–1). p = 1.00]. TP53 putative drivers were found in two patients (16.7%) with nondysplastic SSBE. TP53 was the majority of putative drivers in both BE adjacent to EAC and EAC, accounting for 66.7% and 66.7%, respectively. More putative drivers per lesion were found in the EAC than in the NDBE group [1 (range, 0–3) vs. 0 (range, 0–1). p < 0.01]. The genetic variants of early EAC in the Japanese were similar to those in western countries. However, TP53 putative drivers were detected even in Japanese patients with nondysplastic SSBE. The risks of progression may not be underestimated and appropriate follow-ups may be necessary even in patients with SSBE.This study was registered at the University Hospital Medical Information Network (UMIN000034247).


Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 541
Author(s):  
Xiao-Chuan Fan ◽  
Lin-Sha Ma ◽  
Li Chen ◽  
Diwakar Singh ◽  
Xiaohui Rausch-Fan ◽  
...  

(1) Background—The aim of the present study was to evaluate the correlation between the temporomandibular joint (TMJ) osseous morphology of normal skeletal pattern individuals with different dental malocclusions by using cone-beam computed tomography (CBCT). (2) Methods—The CBCT images of bilateral TMJs in 67 subjects with skeletal class I and average mandibular angle (26 males and 41 females, age range 20–49 years) were evaluated in this study. The subjects were divided into class I, class II division 1, and class II division 2 according to the molar relationship and retroclination of the maxillary incisors. Angular and linear measurements of TMJ were evaluated and the differences between the groups were statistically analyzed. (3) Results—Intragroup comparisons showed statistical differences for articular eminence inclination, the width of the glenoid fossa, the ratio of the width of the glenoid fossa to the depth of the glenoid fossa, the condylar angle, and the intercondylar angle between the malocclusion groups. The measurements of the glenoid fossa shape showed no significant difference between the left and right sides. Females showed more differences in the morphological parameters of TMJ between the three malocclusion groups than the males. (4) Conclusion—The present study revealed differences in the TMJ osseous morphology between dental class I and class II malocclusions in the normal skeletal pattern.


Author(s):  
Wenjun Cheng ◽  
Tianjiao Ji ◽  
Shuaifeng Zhou ◽  
Yong Shi ◽  
Lili Jiang ◽  
...  

AbstractEchovirus 6 (E6) is associated with various clinical diseases and is frequently detected in environmental sewage. Despite its high prevalence in humans and the environment, little is known about its molecular phylogeography in mainland China. In this study, 114 of 21,539 (0.53%) clinical specimens from hand, foot, and mouth disease (HFMD) cases collected between 2007 and 2018 were positive for E6. The complete VP1 sequences of 87 representative E6 strains, including 24 strains from this study, were used to investigate the evolutionary genetic characteristics and geographical spread of E6 strains. Phylogenetic analysis based on VP1 nucleotide sequence divergence showed that, globally, E6 strains can be grouped into six genotypes, designated A to F. Chinese E6 strains collected between 1988 and 2018 were found to belong to genotypes C, E, and F, with genotype F being predominant from 2007 to 2018. There was no significant difference in the geographical distribution of each genotype. The evolutionary rate of E6 was estimated to be 3.631 × 10-3 substitutions site-1 year-1 (95% highest posterior density [HPD]: 3.2406 × 10-3-4.031 × 10-3 substitutions site-1 year-1) by Bayesian MCMC analysis. The most recent common ancestor of the E6 genotypes was traced back to 1863, whereas their common ancestor in China was traced back to around 1962. A small genetic shift was detected in the Chinese E6 population size in 2009 according to Bayesian skyline analysis, which indicated that there might have been an epidemic around that year.


2021 ◽  
Vol 22 (1) ◽  
pp. 443
Author(s):  
Robert Köhnke ◽  
Marcus Oliver Ahlers ◽  
Moritz Alexander Birkelbach ◽  
Florian Ewald ◽  
Michael Krueger ◽  
...  

Temporomandibular joint osteoarthritis (TMJ-OA) is a chronic degenerative disease that is often characterized by progressive impairment of the temporomandibular functional unit. The aim of this randomized controlled animal trial was a comparative analysis regarding the chondroregenerative potency of intra-articular stem/stromal cell therapy. Four weeks after combined mechanical and biochemical osteoarthritis induction in 28 rabbits, therapy was initiated by a single intra-articular injection, randomized into the following groups: Group 1: AB Serum (ABS); Group 2: Hyaluronic acid (HA); Group 3: Mesenchymal stromal cells (STx.); Group 4: Mesenchymal stromal cells in hyaluronic acid (HA + STx.). After another 4 weeks, the animals were euthanized, followed by histological examination of the removed joints. The histological analysis showed a significant increase in cartilage thickness in the stromal cell treated groups (HA + STx. vs. ABS, p = 0.028; HA + ST.x vs. HA, p = 0.042; STx. vs. ABS, p = 0.036). Scanning electron microscopy detected a similar heterogeneity of mineralization and tissue porosity in the subchondral zone in all groups. The single intra-articular injection of a stem cell containing, GMP-compliant advanced therapy medicinal product for the treatment of iatrogen induced osteoarthritis of the temporomandibular joint shows a chondroregenerative effect.


2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 480-480
Author(s):  
S. S. Zhao ◽  
E. Nikiphorou ◽  
A. Young ◽  
P. Kiely

Background:Rheumatoid arthritis (RA) is classically described as a symmetric small joint polyarthritis with additional involvement of large joints. There is a paucity of information concerning the time course of damage in large joints, such as shoulder, elbow, hip, knee and ankle, from early to established RA, or of the influence of Rheumatoid Factor (RF) status. There is a historic perception that patients who do not have RF follow a milder less destructive course, which might promote less aggressive treatment strategies in RF-negative patients. The historic nature of the Ealy Rheumatoid Arthritis Study (ERAS) provides a unique opportunity to study RA in the context of less aggressive treatment strategies.Objectives:To examine the progression of large joint involvement from early to established RA in terms of range of movement (ROM) and time to joint surgery, according to the presence of RF.Methods:ERAS was a multi-centre inception cohort of newly diagnosed RA patients (<2 years disease duration, csDMARD naive), recruited from 1985-2001 with yearly follow-up for up to 25 (median 10) years. First line treatment was csDMARD monotherapy with/without steroids, favouring sulphasalazine for the majority. Outcome data was recorded at baseline, at 12 months and then once yearly. Patients were deemed RF negative if all repeated assessments were negative. ROM of individual shoulder, elbow, wrist, hip, knee, ankle and hindfeet joints was collected at 3, 5, 9 and 12-15 years. The rate of progression from normal to any loss of ROM, from years 3 to 14 was modelled using GEE, adjusting for confounders. Radiographs of wrists taken at years 0, 1, 2, 3, 5, 7, 9 were scored according to the Larsen method. Change in the Larsen wrist damage score was modelled using GEE as a continuous variable, while the erosion score was dichotomised into present/absent. Surgical procedure data were obtained by linking to Hospital Episodes Statistics and the National Joint Registry. Time to joint surgery was analysed using multivariable Cox models.Results:A total of 1458 patients from the ERAS cohort were included (66% female, mean age 55 years) and 74% were RF-positive. The prevalence of any loss of ROM, from year 3 through to 14 was highest in the wrist followed by ankle, knee, elbow and hip. The proportion of patients at year 9 with greater than 25% loss of ROM was: wrist 30%, ankle 12%, elbow 7%, knee 7% and hip 5%. Odds of loss of ROM increased over time in all joint regions, at around 7 to 13% per year from year 3 to 14. There was no significant difference between RF-positive and RF-negative patients (see Figure 1). Larsen erosion and damage scores at the wrists progressed in all patients; annual odds of developing any erosions were higher in RF-positives OR 1.28 (95%CI 1.24-1.32) than RF-negatives OR 1.17 (95%CI 1.09-1.26), p 0.013. Time to surgery was similar according to RF-status for the wrist and ankle, but RF-positive cases had a lower hazard of surgery at the elbow (HR 0.37, 0.15-0.90), hip (HR 0.69, 0.48-0.99) and after 10 years at the knee (HR 0.41, 0.25-0.68). Adjustment of the models for Lawrence assessed osteoarthritis of hand and feet radiographs did not influence these results.Figure 1.Odds of progression to any loss of ROM (from no loss of ROM) per year in the overall population and stratified by RF status.Conclusion:Large joints become progressively involved in RA, most frequently affecting the wrist followed by ankle, which is overlooked in some composite disease activity indices. We confirm a higher burden of erosions and damage at the wrists in RF-positive patients, but have not found RF-negative patients to have a better prognosis over time with respect to involvement of other large joints. In contrast RF-negative patients had more joint surgery at the elbow, hip, and knee after 10 years. There is no justification to adopt a less aggressive treatment strategy for RF-negative RA. High vigilance and treat-to-target approaches should be followed irrespective of RF status.Disclosure of Interests:None declared


Cancers ◽  
2021 ◽  
Vol 13 (10) ◽  
pp. 2364
Author(s):  
Olena Klymenko ◽  
Anna Maria Stefanie Buchberger ◽  
Barbara Wollenberg ◽  
Klaus-Dietrich Wolff ◽  
Victoria Kehl ◽  
...  

Purpose: We report the outcome of a mono-institutional retrospective study of sinonasal carcinoma with the primary focus on GTV (gross tumor volume) and the effect of radiotherapy. Methods: 53 patients with sinonasal carcinoma and that of the nasal cavity, paranasal sinus or both except lymphoma were included. All patients were treated between 1999 and 2017. For tumor volume delineation, all pre-therapeutic images were fused to the planning CT (computed tomography). Results: The median follow-up was 17 months [0.3–60], the median age 60 years, 35 males and 18 females were included. Squamous cell carcinoma (SCC) (60.4%) was the predominant histology, followed by adenocarcinoma (15.1%). The mean composite OS (overall survival) time was 33.3 ± 3.5 months. There was no significant difference in the 5 y composite OS between tumor localization or radiotherapy setting. The simultaneous integrated boost concept showed a trend towards improving five-year composite OS compared to the sequential boost concept. The only factor with a significant impact on the 5 y composite OS rate was the pre-therapeutic GTV (cutoff 75 cm3; p = 0.033). The GTV ≥ 100 cm3 has no effect on the 5 y composite OS rate for SCC. Conclusions: The pre-therapeutic GTV is a prognostic factor for five-year composite OS for the entire group of patients with sinonasal tumors, influencing the outcome after completion of all treatment strategies. The GTV seems to not influence five-year composite OS in SCC. For this rare tumor entity, an intensive, multidisciplinary discussion is essential to finding the best treatment option for the patient.


2019 ◽  
Vol 11 (1) ◽  
Author(s):  
Jane S. S. P. Ferreira ◽  
João P. Panighel ◽  
Érica Q. Silva ◽  
Renan L. Monteiro ◽  
Ronaldo H. Cruvinel Júnior ◽  
...  

Abstract Background The stratification system from the International Working Group on the Diabetic Foot (IWGDF) was used to classify the participants as to the ulcer risk. However, it is not yet known what the classification groups’ individual deficits are regarding sensitivity, function, and musculoskeletal properties and mechanics. This makes it difficult to design proper ulcer prevention strategies for patients. Thus, this study aimed to investigate the foot function, foot strength and health of people with diabetes mellitus (DM)—with or without DPN—while considering the different ulcer risk classifications determined by the IWGDF. Methods The subject pool comprised 72 people with DM, with and without DPN. The patients were divided into three groups: Group 0 (G0), which comprised diabetic patients without DPN; Group 1 (G1), which comprised patients with DPN; and Group 2 (G2), which comprised patients with DPN who had foot deformities. The health and foot function of the subjects’ feet were assessed using a foot health status questionnaire (FHSQ-BR) that investigated four domains: foot pain, foot function, footwear, and general foot health. The patients’ foot strength was evaluated using the maximum force under each subject’s hallux and toes on a pressure platform (emed q-100, Novel, Munich, Germany). Results Moderate differences were found between G0 and G1 and G2 for the foot pain, foot function, general foot health, and footwear. There was also a small but significant difference between G0 and G2 in regards to hallux strength. Conclusion Foot health, foot function and strength levels of people with DM and DPN classified by the ulcer risk are different and this must be taken into account when evaluating and developing treatment strategies for these patients.


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