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1.
Sci Rep ; 14(1): 12704, 2024 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-38830996

RESUMO

To explore the role of YAP, a key effector of the Hippo pathway, in temporomandibular joint (TMJ) ankylosis. The temporal and spatial expression of YAP was detected via immunohistochemistry and multiplex immunohistochemistry on postoperative Days 1, 4, 7, 9, 11, 14 and 28 in a sheep model. Isolated mesenchymal stem cells (MSCs) from samples of the Day 14. The relative mRNA expression of YAP was examined before and after the osteogenic induction of MSCs. A YAP-silenced MSC model was constructed, and the effect of YAP knockdown on MSC function was examined. YAP is expressed in the nucleus of the key sites that determine the ankylosis formation, indicating that YAP is activated in a physiological state. The expression of YAP increased gradually over time. Moreover, the number of cells coexpressing of RUNX2 and YAP-with the osteogenic active zone labelled by RUNX2-tended to increase after Day 9. After the osteogenic induction of MSCs, the expression of YAP increased. After silencing YAP, the osteogenic, proliferative and migratory abilities of the MSCs were inhibited. YAP is involved in the early development of TMJ bony ankylosis. Inhibition of YAP using shRNA might be a promising way to prevent or treat TMJ ankylosis.


Assuntos
Anquilose , Células-Tronco Mesenquimais , Osteogênese , Transtornos da Articulação Temporomandibular , Animais , Células-Tronco Mesenquimais/metabolismo , Transtornos da Articulação Temporomandibular/metabolismo , Transtornos da Articulação Temporomandibular/patologia , Transtornos da Articulação Temporomandibular/genética , Anquilose/metabolismo , Anquilose/patologia , Anquilose/genética , Proteínas de Sinalização YAP/metabolismo , Articulação Temporomandibular/metabolismo , Articulação Temporomandibular/patologia , Ovinos , Proliferação de Células , Modelos Animais de Doenças , Diferenciação Celular , Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Proteínas Adaptadoras de Transdução de Sinal/genética , Subunidade alfa 1 de Fator de Ligação ao Core/metabolismo , Subunidade alfa 1 de Fator de Ligação ao Core/genética , Movimento Celular , Fatores de Transcrição/metabolismo , Fatores de Transcrição/genética
2.
Cytokine ; 174: 156460, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-38134555

RESUMO

OBJECTIVE: Connective tissue growth factor (CTGF) exhibits potent proliferative, differentiated, and mineralizing effects, and is believed to be contribute to cartilage mineralization in Osteoarthritis (OA). However, the underlying mechanism of chondrocyte mineralization induced by CTGF remains obscure. As a key regulator of mineral responses, type III phosphate transporter 1 (Pit-1) has been associated with the pathogenesis of articular mineralization. Therefore, the primary objective of this study was to investigate whether CTGF influences the development of mature chondrocyte mineralization and the underlying mechanisms governing such mineralization. METHODS: The effect of Connective tissue growth factor (CTGF) on human C-28/I2 chondrocytes were investigated. The chondrocytes were treated with CTGF or related inhibitors, and transfected with Overexpression and siRNA transfection of Type III Phosphate Transporter 1(Pit-1). Subsequently, the cells were subjected to Alizarin red S staining, PiPer Phosphate Assay Kit, Alkaline Phosphatase Diethanolamine Activity Kit, ELISA, RT-PCR or Western blot analysis. RESULTS: Stimulation with Connective tissue growth factor (CTGF) significantly upregulated the expression of the Type III Phosphate Transporter 1(Pit-1) and mineralization levels in chondrocytes through activation of α5ß1 integrin and BMP/Samd1/5/8 signaling pathways. Furthermore, treatment with overexpressed Pit-1 markedly increased the expression of Multipass Transmembrane Ankylosis (ANK) transporter in the cells. The inhibitory effect of CTGF receptor blockade using α5ß1 Integrin blocking antibody was demonstrated by significantly suppressed the expression of Pit-1 and ANK transporter, as well as chondrocyte mineralization. CONCLUSIONS: Our data indicate that Connective tissue growth factor (CTGF) plays a critical role inchondrocyte mineralization, which is dependent on the expression of the Type III Phosphate Transporter 1(Pit-1) and Multipass Transmembrane Ankylosis (ANK) transporter. Consequently, inhibition of CTGF activity may represent a novel therapeutic approach for the management of Osteoarthritis (OA).


Assuntos
Anquilose , Calcinose , Osteoartrite , Humanos , Anquilose/metabolismo , Anquilose/patologia , Calcinose/patologia , Células Cultivadas , Condrócitos/metabolismo , Fator de Crescimento do Tecido Conjuntivo/genética , Fator de Crescimento do Tecido Conjuntivo/metabolismo , Integrinas/metabolismo , Osteoartrite/metabolismo , Proteínas de Transporte de Fosfato/genética , Proteínas de Transporte de Fosfato/metabolismo
3.
Semin Arthritis Rheum ; 61: 152225, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37263068

RESUMO

OBJECTIVE: To assess whether the presence of bone marrow edema (BME) leads to the development of structural lesions at the same anatomical location of the sacroiliac joints (SIJ), and to investigate the association between BME patterns over time and structural lesions in patients with early axial spondyloarthritis (axSpA). METHODS: Patients with axSpA from the DESIR cohort with ≥2 consecutive magnetic resonance imaging (MRI)-SIJ were assessed at baseline, 2 and 5 years. MRI-SIJ images were divided into 8 quadrants. The association between BME and subsequent structural lesions (sclerosis, erosions, fatty lesions, and ankylosis) on MRI in the same quadrant was tested longitudinally. Additionally, patients were grouped according to the pattern of BME evolution across quadrants over time (no BME, sporadic, fluctuating, and persistent). The association between these patterns and 5-year imaging outcomes (eg: ≥5 erosions and/or fatty lesions on MRI-SIJ) was tested. RESULTS: In total, 196 patients were included. BME in each quadrant was associated with sclerosis (OR:1.9 (95%CI: 1.1;3.4)), erosions (1.9 (1.5;2.5)) and fatty lesions (1.9 (1.4;2.6)). Ankylosis was uncommon. There was a gradient between increased level of inflammation and subsequent damage: compared to the 'no BME' pattern, the sporadic (OR (95% CI): 2.1 (1.0;4.5)), fluctuating (OR:5.6(2.2;14.4)) and persistent (OR:7.5(2.8;19.6)) patterns were associated with higher structural damage on MRI-SIJ at 5-years. CONCLUSIONS: In early axSpA, inflammation on MRI-SIJ leads to damage at the quadrant level. The higher the exposure to inflammation across quadrants in the SIJs over time the higher the likelihood of subsequent structural damage, suggesting a cumulative effect.


Assuntos
Anquilose , Espondiloartrite Axial , Doenças da Medula Óssea , Espondilartrite , Humanos , Articulação Sacroilíaca/diagnóstico por imagem , Espondilartrite/complicações , Espondilartrite/diagnóstico por imagem , Medula Óssea/diagnóstico por imagem , Medula Óssea/patologia , Esclerose/patologia , Doenças da Medula Óssea/diagnóstico por imagem , Doenças da Medula Óssea/etiologia , Inflamação , Imageamento por Ressonância Magnética/métodos , Edema/diagnóstico por imagem , Edema/patologia , Anquilose/patologia
4.
Eur Radiol ; 33(11): 8310-8323, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37219619

RESUMO

OBJECTIVES: To evaluate the feasibility and diagnostic accuracy of a deep learning network for detection of structural lesions of sacroiliitis on multicentre pelvic CT scans. METHODS: Pelvic CT scans of 145 patients (81 female, 121 Ghent University/24 Alberta University, 18-87 years old, mean 40 ± 13 years, 2005-2021) with a clinical suspicion of sacroiliitis were retrospectively included. After manual sacroiliac joint (SIJ) segmentation and structural lesion annotation, a U-Net for SIJ segmentation and two separate convolutional neural networks (CNN) for erosion and ankylosis detection were trained. In-training validation and tenfold validation testing (U-Net-n = 10 × 58; CNN-n = 10 × 29) on a test dataset were performed to assess performance on a slice-by-slice and patient level (dice coefficient/accuracy/sensitivity/specificity/positive and negative predictive value/ROC AUC). Patient-level optimisation was applied to increase the performance regarding predefined statistical metrics. Gradient-weighted class activation mapping (Grad-CAM++) heatmap explainability analysis highlighted image parts with statistically important regions for algorithmic decisions. RESULTS: Regarding SIJ segmentation, a dice coefficient of 0.75 was obtained in the test dataset. For slice-by-slice structural lesion detection, a sensitivity/specificity/ROC AUC of 95%/89%/0.92 and 93%/91%/0.91 were obtained in the test dataset for erosion and ankylosis detection, respectively. For patient-level lesion detection after pipeline optimisation for predefined statistical metrics, a sensitivity/specificity of 95%/85% and 82%/97% were obtained for erosion and ankylosis detection, respectively. Grad-CAM++ explainability analysis highlighted cortical edges as focus for pipeline decisions. CONCLUSIONS: An optimised deep learning pipeline, including an explainability analysis, detects structural lesions of sacroiliitis on pelvic CT scans with excellent statistical performance on a slice-by-slice and patient level. CLINICAL RELEVANCE STATEMENT: An optimised deep learning pipeline, including a robust explainability analysis, detects structural lesions of sacroiliitis on pelvic CT scans with excellent statistical metrics on a slice-by-slice and patient level. KEY POINTS: • Structural lesions of sacroiliitis can be detected automatically in pelvic CT scans. • Both automatic segmentation and disease detection yield excellent statistical outcome metrics. • The algorithm takes decisions based on cortical edges, rendering an explainable solution.


Assuntos
Anquilose , Sacroileíte , Humanos , Feminino , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Articulação Sacroilíaca/diagnóstico por imagem , Articulação Sacroilíaca/patologia , Sacroileíte/patologia , Estudos Retrospectivos , Tomografia Computadorizada por Raios X/métodos , Redes Neurais de Computação , Algoritmos , Anquilose/diagnóstico por imagem , Anquilose/patologia
5.
Ulus Travma Acil Cerrahi Derg ; 29(2): 224-229, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36748774

RESUMO

BACKGROUND: Reankylosis is a frequent pathology in patients who are operated for post-traumatic temporomandibular joint (TMJ) ankylosis. In the current practice, ankylosing spondylitis attacks are monitored with the increases in neutrophil-lymphocyte ratio (NLR) and platelet-lymphocyte ratio (PLR). In this study, such a relation between TMJ reankylosis and increase in these ratios was evaluated. METHODS: Patients who were operated between January 2010 and December 2019 for unilateral or bilateral TMJ ankylosis were included in this study. Temporomandibular gap arthroplasty with an interpositional silicone block was performed for each patient by the same operative team. Each patient had standard physiotherapy. All ages and genders were included in the study. Due to the complete blood count differences between children and adults, 18 years of age was used as a cutoff between the groups. A need for reoperation was accepted as reankylosis. The NLR and PLR of children without and with reankylosis and adults without and with reankylosis were compared. RESULTS: Twenty-nine children and 38 adults were included in the study. Mean age of the children and adults were 10.8 and 37.3 years, respectively. Eleven children and eight adults had reankylosis. In patients with reankylosis, NLR and PLR were high significantly, regardless of age. In children, PLR was significantly higher in reankylosis patients. In adults, NLR was significantly higher in reankylosis patients. CONCLUSION: PLR and NLR may be utilized for predicting reankylosis, respectively, in children and adults who were operated for ankylosis due to TMJ fractures.


Assuntos
Anquilose , Neutrófilos , Adulto , Criança , Humanos , Masculino , Feminino , Adolescente , Adulto Jovem , Neutrófilos/patologia , Anquilose/cirurgia , Anquilose/patologia , Linfócitos/patologia , Articulação Temporomandibular/cirurgia , Articulação Temporomandibular/patologia
6.
Sci Rep ; 12(1): 3223, 2022 02 25.
Artigo em Inglês | MEDLINE | ID: mdl-35217688

RESUMO

Tooth ankylosis is a pathological condition of periodontal ligament (PDL) restoration after tooth replantation. Platelet-derived growth factor-BB (PDGF-BB) has been proposed as a promising factor for preventing tooth ankylosis. Using rat tooth replantation model, we investigated whether PDGF-BB accelerates the repair of PDL after tooth replantation without ankylosis, and its molecular mechanisms. In PDGF-BB pretreated replanted teeth (PDGF-BB group), ankylosis was markedly reduced and functionally organized PDL collagen fibers were restored; the mechanical strength of the healing PDL was restored to an average of 76% of that in non-replanted normal teeth at 21 days. The numbers of PDGF-Rß- and BrdU-positive cells in the periodontal tissues of the PDGF-BB group were greater than those of atelocollagen pretreated replanted teeth (AC group). Moreover, in the PDGF-BB group, the periodontal tissues had fewer osteocalcin-positive cells and decreased number of nuclear ß-catenin-positive cells compared to those in the AC group. In vitro analyses showed that PDGF-BB increased the proliferation and migration of human periodontal fibroblasts. PDGF-BB downregulated mRNA expressions of RUNX2 and ALP, and inhibited upregulatory effects of Wnt3a on ß-catenin, AXIN2, RUNX2, COL1A1, and ALP mRNA expressions. These findings indicate that in tooth replantation, topical PDGF-BB treatment enhances cell proliferation and migration, and inhibits canonical Wnt signaling activation in bone-tooth ankylosis, leading to occlusal loading of the PDL tissues and subsequent functional restoration of the healing PDL. This suggests a possible clinical application of PDGF-BB to reduce ankylosis after tooth replantation and promote proper regeneration of PDL.


Assuntos
Anquilose , Anquilose Dental , Animais , Anquilose/patologia , Becaplermina/farmacologia , Subunidade alfa 1 de Fator de Ligação ao Core , Ligamento Periodontal , Proteínas Proto-Oncogênicas c-sis/farmacologia , RNA Mensageiro/farmacologia , Ratos , Anquilose Dental/patologia , Reimplante Dentário , beta Catenina
7.
Oral Radiol ; 38(2): 292-296, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-34608578

RESUMO

Ankylosis forming between the zygomatic arch and the coronoid process is a rarely encountered pathological extracapsular ankylosis. Its treatment protocol consists of surgical removal of the coronoid process with the ankylotic mass and jaw opening-closing exercises after surgery. Myositis ossificans (MO) is a self-limiting, benign ossifying lesion. It affects all types of soft tissues including subcutaneous adipose tissue, muscles, tendons and nerves. It is most frequently found in the muscle as a solitary lesion. The clinical appearance of MO is generally in the form of a mass characterized with an ossified soft tissue. When it develops alone, cross-sectional imaging might not be specific, and it may appear similar to worse etiologies. It is suggested multiple imaging modalities should be used in the assessment of a suspicious soft tissue mass. MO is a benign self-limiting disease. In this case report, in the radiographic examination of a 41-year-old female patient, ankylosis between the left coronoid process and the zygomatic bone accompanied by possible MO in the left medial pterygoid muscle was observed. Resection of the coronoid process with the ipsilateral route, resection of the ankylotic mass with the hemicoronal approach and resection of the contralateral coronoid process with the intraoral approach were performed, but the ossified formation in the medial pterygoid muscle was not touched.


Assuntos
Anquilose , Miosite Ossificante , Adulto , Anquilose/diagnóstico por imagem , Anquilose/patologia , Feminino , Humanos , Miosite Ossificante/diagnóstico por imagem , Miosite Ossificante/cirurgia , Músculos Pterigoides
8.
Osteoarthritis Cartilage ; 30(2): 280-290, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34826571

RESUMO

OBJECTIVE: Although cartilage degeneration and invasion of the subchondral bone plate in entheseal lesion has been considered to consequently lead bony ankylosis in ankylosing spondylitis (AS), no evident mechanisms are known. DESIGN: To identify histopathological and physiological changes in enthesitis-related ankylosis in AS, we performed molecular characterization of transcription factors and surface markers, and transcriptome analysis with human tissues. Entheseal tissue containing subchondral bone was obtained from the facet joints of 9 patients with AS and 10 disease controls, and assessed by using differential staining techniques. Enthesis cells were isolated, characterized, stimulated with TNF and/or IL-17A, and analysed by cell-based experimental tools. RESULTS: We found diffusely distributed granular tissue and cartilage in the subchondral bone in AS. Co-expression of SOX9, a specific transcription factor in cartilage, and matrix metalloproteinase 13 (MMP13) was found in the granular tissues within the subchondral bone from AS patients. Intriguingly, SOX9 expression was significantly higher in AS enthesis cells than controls and correlated with TNFR1 and IL-17RA expressions, which is important for high reactivity to TNF and IL-17A cytokines. Co-stimulation by TNF and IL-17A resulted in accelerated mineralization/calcification features, and increased OCN expression in AS enthesis cells. Furthermore, SOX9 overexpression in enthesis leads to promoting mineralization feature by TNF and IL-17A stimuli. Finally, OCN expression is elevated in the destructive enthesis of advanced AS. CONCLUSION: These findings provide insight into the links between inflammation and the mineralization of entheseal tissue as the initiation of spinal ankylosis, emphasizing the importance of SOX9+ enthesis cells.


Assuntos
Anquilose/patologia , Fatores de Transcrição SOX9 , Doenças da Coluna Vertebral/patologia , Espondilite Anquilosante/patologia , Adulto , Células/metabolismo , Feminino , Humanos , Ligamentos Articulares/citologia , Masculino , Pessoa de Meia-Idade , Fatores de Transcrição SOX9/biossíntese , Tendões/citologia
9.
Med Sci Monit ; 27: e932545, 2021 Aug 17.
Artigo em Inglês | MEDLINE | ID: mdl-34400603

RESUMO

BACKGROUND The type of traumatic temporomandibular joint (TMJ) ankylosis depends on the degree of severity of TMJ trauma. Here, we performed comprehensive differential molecular profiling between TMJ fibrous and bony ankylosis. MATERIAL AND METHODS Six sheep were used and a bilateral different degree of TMJ trauma was performed to induce fibrous ankylosis in one side and bony ankylosis in the other side. The ankylosed calluses were harvested at days 14 and 28 postoperatively and analyzed by Affymetrix OviGene-1_0-ST microarrays. DAVID was used to perform the Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway analysis for the different expression genes (DEGs). The DEGs were also typed into protein-protein interaction (PPI) networks to get the interaction data. Ten DEGs, including 7 hub genes from PPI analysis, were confirmed by real-time PCR. RESULTS We found 90 and 323 DEGs at least 2-fold at days 14 and 28, respectively. At day 14, bony ankylosis showed upregulated DEGs, such as TLR8, SYK, NFKBIA, PTPRC, CD86, ITGAM, and ITGAL, indicating a stronger immune and inflammatory response and cell adhesion, while genes associated with anti-adhesion (PRG4) and inhibition of osteoblast differentiation (SFRP1) had higher expression in fibrous ankylosis. At day 28, bony ankylosis showed increased biological process related to new bone formation, while fibrous ankylosis was characterized by a prolonged immune and inflammatory reaction. CONCLUSIONS This study provides a differential gene expression profile between TMJ fibrous and bony ankylosis. Further study of these key genes may provide new ideas for future treatment of TMJ bony ankylosis.


Assuntos
Anquilose/genética , Fibrose/genética , Transtornos da Articulação Temporomandibular/genética , Traumatismos do Nervo Trigêmeo/genética , Animais , Anquilose/patologia , Modelos Animais de Doenças , Expressão Gênica/genética , Fraturas Mandibulares/genética , Análise em Microsséries , Ovinos/genética , Articulação Temporomandibular/metabolismo , Articulação Temporomandibular/patologia , Transtornos da Articulação Temporomandibular/patologia , Transcriptoma , Traumatismos do Nervo Trigêmeo/patologia
10.
Int J Paleopathol ; 31: 14-22, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32877865

RESUMO

OBJECTIVE: This study investigated microstructural changes of the right and left midshaft femur in an archaeological individual afflicted with left-sided hip joint ankylosis to assess whether increased cortical porosity was present as a result of leg disuse. MATERIALS: The individual is a middle-aged adult male excavated from the Metal Period (∼2000 BP) Nagsabaran, Luzon Island, Philippines. METHODS: Following standard examination of femur gross anatomy and differential diagnosis of the hip joint fusion, ∼1 cm thick posterior midshaft femur samples were removed for microstructural examination. Using static histomorphometry, bone multi-cellular unit activity from Haversian canal (vascular pore) density, area, and circularity was reconstructed. Spatial positioning of Haversian canals was mapped using Geographic Information Systems software. Phosphate, carbonate, and carbonate:phosphate ratios were obtained using synchrotron-sourced Fourier transform infrared microspectroscopy. RESULTS: The left femur had greater cortical pore density, with smaller and rounder vascular canals, in addition to lower matrix levels of phosphate and carbonate, when compared to the right femur. CONCLUSIONS: Our data indicate compromised bone tissue in the left femur, and conform to expected bone functional adaptation paradigms of remodeling responses to pathological and biomechanical changes. SIGNIFICANCE: The preservation of this individual's hip abnormality created a unique opportunity to evaluate intra-skeletal bone health asymmetry, which may help other researchers evaluate the presence of limb disuse in archaeological samples. LIMITATIONS: A lack of lower limb data limits our interpretations to femur remodeling only. SUGGESTIONS FOR FURTHER RESEARCH: Future research efforts should aim to examine the presence of remodeling changes in all bones of the lower limb. LAYUNIN: Gamit ang buto ng magkabilang pemur ng isang taong natagpuan sa isang archaeological site na may sakit na ankylosis sa kaliwang balakang, pinag-aralan ang iba't-ibang microstructures galing sa gitnang bahagi o midshaft ng pemur upang malaman kung may makikitang mataas na cortical porosity ang buto dahil hindi ito malimit gamitin. GAMIT: Ang pinag-aaralang buto ay galing sa isang indibidwal na tinatayang middle-age na lalaki na namuhay noong Panahon ng Metal (∼2000 BP) sa Nagsabaran, Cagayan, Republika ng Pilipinas. PAMAMARAAN: Matapos ang unang pagkilatis sa femur at ang pagkilala ng sakit sa balakang, kumuha ng ∼1 sentimetro ng buto galing sa midshaft ng pemur upang lalong mapag-aralan ang kanyang microstructure. Gamit ang static histomorphometry, napag-aralan ang mga naiwang bakas ng multi-cellular unit activity ayon sa kapal, laki at pagkakabilog ng Haversian canal (vascular pore). Gumamit din ng Geographic Information Systems (GIS) software upang mapag-aralan ang kaugnayan ng posisyon ng Haversian canal. Panghuli, gumamit din ng synchroton-sourced Fourier transform infrared (sFTIR) microspectroscopy upang makuha ang bilang ng phosphate, carbonate, at carbonate:phosphate ratio. RESULTA: Napag-alaman na ang kaliwang pemur ay mayroong higit na maraming cortical pores, maliit at mabilog na vascular canals, at mababang bilang ng phosphate, carbonate kung ihahambing sa kanang pemur. KONKLUSYON: Ayon sa aming datos, ang kaliwang pemur ay umaayon sa mga katangian ng isang butong may sakit. Sumunod din ito sa inaasahang bone functional adaptation paradigms of remodeling ng buto dahil may sakit at hindi nagamit. KAHALAGAHAN: Dahil maganda ang pagkakalibing ng buto ng balakang, nagkaroon ng pagkakataong makilatis ang kalusugan ng sinaunang-tao sa pamamagitan ng pag-aaral ng kalusugan ng buto. Dagdag pa, makakatulong din ito upang malaman kung ibang mananaliksik ang pag-aaral ng ibang butong hindi nagagamit mula sa archaeological site. LIMITASYON: Dahil walang nakuhang ibang buto mula sa binti at paa, ang pemur lang ang naimbestigahan. MUNGKAHI PARA SA MGA SUSUNOD NA PAG-AARAL: Kung magkakaroon ng pagkakataon sa susunod, dapat maimbistigahan ang lahat ng buto ng binti (lower limb).


Assuntos
Anquilose/patologia , Remodelação Óssea/fisiologia , Fêmur/patologia , Articulação do Quadril/patologia , Anquilose/história , Ósteon/fisiologia , História Antiga , Humanos , Masculino , Pessoa de Meia-Idade , Filipinas
11.
Int J Paleopathol ; 31: 1-6, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32805633

RESUMO

OBJECTIVES: This study aimed to reconstruct the dietary behavior of two early medieval individuals who display gnathic malformation. MATERIAL: Two skeletons affected by temporomandibular ankylosis were analyzed, one from the Great Moravian burial site of Rajhradice (9th century AD, Czech Republic), and the other from the Avar burial site of SchÓ§nkirchen (8th century AD, Austria). METHODS: Carbon and nitrogen isotopic values were measured from the bone collagen of both individuals. In the Rajhradice case, where the childhood origin of ankylosis is deduced, isotopic analysis of dentine sections was performed. RESULTS: Both individuals show isotopic values within the range of variation of a contemporaneous population sample. There was no observable dietary change in the Rajhradice individual that could be linked to the occurrence of ankylosis. CONCLUSIONS: Both individuals consumed diets typical for their populations. They appear to not have restricted access to foodstuffs, namely animal protein, which would likely have had to be served in liquid (e.g. milk) or in a highly mashed form to compensate for insufficient mastication. SIGNIFICANCE: This finding provides specific evidence of care provided to these two afflicted members of past populations. LIMITATIONS: Though the proportion of animal protein is an important indicator of the quality of diet, many other aspects of diet - such as micronutrient content - elude stable isotope analysis. SUGGESTIONS FOR FURTHER RESEARCH: Amino acid compound specific isotope analyses of collagen would provide deeper insight into both the diet and physiology of the affected individuals.


Assuntos
Anquilose , Dieta/etnologia , Transtornos da Articulação Temporomandibular , Adolescente , Adulto , Anquilose/etnologia , Anquilose/patologia , Áustria , Colágeno/química , República Tcheca , História Medieval , Humanos , Masculino , Paleopatologia , Articulação Temporomandibular/patologia , Transtornos da Articulação Temporomandibular/etnologia , Transtornos da Articulação Temporomandibular/patologia , Adulto Jovem
12.
Am J Med Genet A ; 182(6): 1438-1448, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32259393

RESUMO

Multiple synostoses syndrome (SYNS1; OMIM# 186500) is a rare autosomal dominant disorder reported in a few cases worldwide. We report a Chinese pedigree characterized by proximal symphalangism, conductive hearing loss, and distinctive facies. We examined the genetic cause and reviewed the literature to discuss the pathogeny, treatment, and prevention of SYNS1. Audiological, ophthalmological, and radiological examinations were evaluated. Whole-exome sequencing (WES) was performed to identify mutations in the proband and her parents. Sanger sequencing was used to verify the results for the proband, parents, and grandmother. The literature on the genotype-phenotype correlation was reviewed. The patient was diagnosed with multiple synostoses syndrome clinically. WES and bioinformatic analysis revealed a novel missense mutation in the NOG gene, c.554C>G (p.Ser185Cys), cosegregated in this family. The literature review showed that the phenotype varies widely, but the typical facies, conductive hearing loss, and proximal symphalangism occurred frequently. All reported mutations are highly conserved in mammals based on conservation analysis, and there are regional hot spots for these mutations. However, no distinct genotype-phenotype correlations have been identified for mutations in NOG in different races. Regular systematic examinations and hearing aids are beneficial for this syndrome. However, the outcomes of otomicrosurgery are not encouraging owing to the regrowth of bone. This study expanded the mutation spectrum of NOG and is the first report of SYNS1 in a Chinese family. Genetic testing is recommended as part of the diagnosis of syndromic deafness. A clinical genetic evaluation is essential to guide prevention, such as preimplantation genetic diagnosis.


Assuntos
Anquilose/genética , Ossos do Carpo/anormalidades , Proteínas de Transporte/genética , Deformidades Congênitas do Pé/genética , Deformidades Congênitas da Mão/genética , Perda Auditiva Condutiva/genética , Estribo/anormalidades , Sinostose/genética , Ossos do Tarso/anormalidades , Falanges dos Dedos do Pé/anormalidades , Anquilose/complicações , Anquilose/epidemiologia , Anquilose/patologia , Ossos do Carpo/patologia , Criança , Pré-Escolar , China/epidemiologia , Feminino , Deformidades Congênitas do Pé/complicações , Deformidades Congênitas do Pé/epidemiologia , Deformidades Congênitas do Pé/patologia , Estudos de Associação Genética , Predisposição Genética para Doença , Deformidades Congênitas da Mão/complicações , Deformidades Congênitas da Mão/epidemiologia , Deformidades Congênitas da Mão/patologia , Perda Auditiva Condutiva/complicações , Perda Auditiva Condutiva/epidemiologia , Perda Auditiva Condutiva/patologia , Humanos , Masculino , Mutação de Sentido Incorreto/genética , Linhagem , Fenótipo , Estribo/patologia , Sinostose/complicações , Sinostose/epidemiologia , Sinostose/patologia , Ossos do Tarso/patologia , Falanges dos Dedos do Pé/patologia , Dedos do Pé/anormalidades , Dedos do Pé/patologia , Sequenciamento do Exoma
13.
Int J Paleopathol ; 28: 59-68, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31951851

RESUMO

OBJECTIVE: To better understand the pathogenesis of DISH, identifying early or pre-DISH lesions in the spine and investigating the relationship between spinal and extra-spinal manifestations of DISH. MATERIAL: 44 skeletonized individuals with DISH from the WM Bass Donated Skeletal Collection. METHODS: For each vertebra, location, extension, point of origin and appearance of vertebral outgrowths were recorded. The size of the enthesophytes at the olecranon process, patella and calcaneal tuberosity was measured with digital callipers. RESULTS: At either end of the DISH-ankylosed segment, isolated vertical outgrowths arising from the central third of the anterior aspect of the vertebral body can usually be observed. These bone outgrowths show a well-organized external cortical layer, an internal structure of trabecular bone and usually are unaccompanied by or show minimal associated endplate degeneration. Analysis of the relationship between spinal and extra-spinal manifestations (ESM) suggests great inter-individual variability. No correlation between any ESM and the stage of spinal DISH was found. CONCLUSIONS: Small isolated outgrowths represent the earliest stages of the spinal manifestations of DISH. The use of ESM as an indicator of DISH should be undertaken with great caution until the relationship between these two features is understood. SIGNIFICANCE: Improved accuracy of paleopathological diagnostic criteria of DISH. LIMITATIONS: Small sample comprised of only individuals with DISH. FUTURE RESEARCH: micro-CT analysis to investigate the internal structure of the spinal lesions. Analysis of extra-spinal enthesophytes in individuals with and without DISH to understand their pathogenesis and association with the spinal lesions in individuals with DISH.


Assuntos
Hiperostose Esquelética Difusa Idiopática/patologia , Idoso , Idoso de 80 Anos ou mais , Anquilose/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
14.
Int J Paleopathol ; 28: 69-87, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31982797

RESUMO

OBJECTIVE: To explore the differential diagnoses of a fused left knee joint and the subsequent impairment. MATERIALS: An adult female skeleton from the Medieval cemetery of St Mary Spital (London, England). METHODS: We employed digital radiography and macroscopic observation to record the changes observed throughout the skeleton. We also used the Index of Care to explore the subsequent impairment. RESULTS: A range of congenital and developmental conditions were identified throughout the axial skeleton, with changes to the spine, pelvis, arms and leg bones reflecting adaptation to the mobility impairment. CONCLUSIONS: In all probability, the left knee reflects a case of congenital ankylosis with a differential diagnosis of subadult trauma. The female's skeleton had adapted to the impairment. Their risk is likely to have been elevated because of climatic and pandemic events during this period. SIGNIFICANCE: First reported case of congenital knee ankylosis. LIMITATIONS: The left knee joint was damaged during excavation. SUGGESTIONS FOR FURTHER RESEARCH: Additional imaging is advised.


Assuntos
Anquilose/história , Articulação do Joelho/patologia , Adulto , Anquilose/patologia , Feminino , História Medieval , Humanos , Londres
16.
J Craniomaxillofac Surg ; 47(12): 1903-1912, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31812309

RESUMO

OBJECTIVE: Temporomandibular joint ankylosis (TMJa) is a debilitating condition that causes difficulty in mastication, speech and mouth opening. Its treatment poses surgical and rehabilitative challenges along with a high incidence of reankylosis. This study was designed to assess the long-term outcomes with a new two phase physiotherapy protocol following conservative resection of the ankylotic mass. MATERIALS AND METHODS: 143 patients who were treated for TMJa were initially recruited, among whom 98 were inducted into the study and retrospectively evaluated using clinical records and 3-dimensional computed tomography. All the patients underwent a minimal pre auricular incision and conservative interpositional gap arthroplasty with collagen membrane. This was followed by the new two phase physiotherapy protocol with the use of a bite block. The primary outcome measures were the maximum interincisal distance, vertical ramus height and complications. The patients were followed up at monthly intervals during the first year, quarterly intervals during the second year, and at intervals of 6 months during subsequent follow-up years. The mean follow up period was 6.38 ± 2.36 years after ankylotic release. Paired student t test was used for statistical analysis. RESULTS: The mean scores for mouth opening at T1, T2 and T3 were statistically significantly different at all intervals (p < 0.0005). The mean scores for ramal length were statistically significantly different at T1 and T2 interval (p < 0.0005) and insignificant at T2 and T3 interval. No reankylosis was observed in patients who followed the physiotherapy protocol. CONCLUSIONS: In the management of TMJa, the success of the conservative surgical technique with interpositional arthroplasty is less dependent on the longevity and rigidity of the interpositional material but more indebted to the patient compliance in following the proposed physiotherapy protocol.


Assuntos
Anquilose/cirurgia , Artroplastia , Modalidades de Fisioterapia , Transtornos da Articulação Temporomandibular/cirurgia , Adolescente , Adulto , Anquilose/patologia , Feminino , Seguimentos , Humanos , Masculino , Cooperação do Paciente , Recuperação de Função Fisiológica , Estudos Retrospectivos , Articulação Temporomandibular , Transtornos da Articulação Temporomandibular/patologia
18.
Sci Rep ; 9(1): 10493, 2019 07 19.
Artigo em Inglês | MEDLINE | ID: mdl-31324825

RESUMO

This study aimed to describe the clinical features of different types of traumatic temporomandibular joint (TMJ) ankylosis. Seventy-one patients with 102 ankylosed joints were retrospectively reviewed and categorized into four groups according to the grades of severity: type I, non-bony ankylosis of the joint with almost-normal joint space; type II, lateral bony ankylosis marked by a normal joint space that coexists with a radiolucent line; type III, complete bony ankylosis of the joint characterized by only a radiolucent line; and type IV, extensive bony ankylosis without any radiolucent line. The period of ankylosis, maximal mouth opening (MMO), rate of complications, and histopathological changes were compared among groups. Intergroup comparison showed significant differences in the clinical features of MMO and the incidence of complications (p < 0.05). Younger trauma patients tended to develop more severe types of ankylosis than older patients. Additionally, long post-trauma periods were related to the development of severe ankylosis. MMO was highly negatively correlated with the severity of ankylosis. Significant differences were noted among the four types of ankylosis. Younger trauma patients with long post-trauma periods tended to develop more severe TMJ ankylosis, experience more complications, and face more challenges in treatment than older patients.


Assuntos
Anquilose/complicações , Transtornos da Articulação Temporomandibular/complicações , Articulação Temporomandibular/patologia , Adolescente , Adulto , Anquilose/diagnóstico por imagem , Anquilose/patologia , Anquilose/cirurgia , Feminino , Humanos , Masculino , Estudos Retrospectivos , Articulação Temporomandibular/diagnóstico por imagem , Articulação Temporomandibular/cirurgia , Transtornos da Articulação Temporomandibular/diagnóstico por imagem , Transtornos da Articulação Temporomandibular/patologia , Transtornos da Articulação Temporomandibular/cirurgia , Tomografia Computadorizada por Raios X , Adulto Jovem
19.
Pan Afr Med J ; 32: 151, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31303922

RESUMO

Ankylosis of the temporomandibular joint (TMJ) is a joint stiffness with an oral aperture of less than 30 mm measured between the incisors, occurring because of a bony, fibrous or fibro-osseous fusion. Arthrosis is a rare cause of the ankylosis of the temporomandibular joint. We report a case of ankylosis of the TMJ due to osteoarthrosis, in order to highlight the diagnostic and therapeutic features of this quite uncommon disease.


Assuntos
Anquilose/diagnóstico , Osteoartrite/diagnóstico , Transtornos da Articulação Temporomandibular/diagnóstico , Anquilose/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Osteoartrite/patologia , Articulação Temporomandibular/patologia , Transtornos da Articulação Temporomandibular/patologia
20.
Mol Med Rep ; 19(5): 4297-4305, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30942403

RESUMO

Traumatic temporomandibular joint ankylosis (TMJA) is a common disease and disorder of the temporomandibular joint (TMJ); however, its pathogenesis has yet to be completely elucidated. In the authors' previous studies, the lateral pterygoid muscle (LPM) was confirmed to exert a function in distraction osteogenesis (DO) during the healing of a condylar fracture, which resulted in the formation of excess bone. The aim of the present study was to investigate alterations in the expression of any associated genes via an Affymetrix GeneChip method. The traumatic TMJA model was fabricated by a condylar fracture in the TMJ area of sheep with either a dissected LPM (LPD) or normal (LPN). The untreated sheep served as a control. At 4­ and 12 weeks post­surgery, the condylar zone was isolated to perform the gene chip analysis, which was performed according to a standard Affymetrix protocol. The validated genes were further evaluated by reverse transcription­quantitative polymerase chain reaction (RT­qPCR). The gene chip analysis indicated that the LPN gene expression pattern was similar compared with the DO process, while LPD was similar to that of normal bone fracture healing. The validated genes were collagen type II α1 chain, C­type lectin domain family 3 member A, interleukin 1A, cartilage oligomeric matrix protein, chondromodulin (LECT1), calcitonin receptor (CALCR), transforming growth factor (TGF)­ß1, Fos proto­oncogene (FOS), bone γ­carboxyglutamate protein and bone morphogenic protein (BMP)7, among which, BMP7, LECT1, CALCR and FOS were confirmed by RT­qPCR. In conclusion, the present study demonstrated that LPM exerts a DO effect during the pathogenesis of traumatic TMJA, which may provide a novel target for preventing TMJA.


Assuntos
Anquilose/etiologia , Anquilose/patologia , Músculos Pterigoides/metabolismo , Músculos Pterigoides/patologia , Transtornos da Articulação Temporomandibular/etiologia , Transtornos da Articulação Temporomandibular/patologia , Ferimentos e Lesões/complicações , Animais , Biologia Computacional , Modelos Animais de Doenças , Perfilação da Expressão Gênica , Ontologia Genética , Análise de Sequência com Séries de Oligonucleotídeos , Reprodutibilidade dos Testes , Ovinos , Transcriptoma
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