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Am J Med Genet A ; 182(6): 1438-1448, 2020 06.
Article En | MEDLINE | ID: mdl-32259393

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.

Ankylosis/genetics , Carpal Bones/abnormalities , Carrier Proteins/genetics , Foot Deformities, Congenital/genetics , Hand Deformities, Congenital/genetics , Hearing Loss, Conductive/genetics , Stapes/abnormalities , Synostosis/genetics , Tarsal Bones/abnormalities , Toe Phalanges/abnormalities , Ankylosis/complications , Ankylosis/epidemiology , Ankylosis/pathology , Carpal Bones/pathology , Child , Child, Preschool , China/epidemiology , Female , Foot Deformities, Congenital/complications , Foot Deformities, Congenital/epidemiology , Foot Deformities, Congenital/pathology , Genetic Association Studies , Genetic Predisposition to Disease , Hand Deformities, Congenital/complications , Hand Deformities, Congenital/epidemiology , Hand Deformities, Congenital/pathology , Hearing Loss, Conductive/complications , Hearing Loss, Conductive/epidemiology , Hearing Loss, Conductive/pathology , Humans , Male , Mutation, Missense/genetics , Pedigree , Phenotype , Stapes/pathology , Synostosis/complications , Synostosis/epidemiology , Synostosis/pathology , Tarsal Bones/pathology , Toe Phalanges/pathology , Toes/abnormalities , Toes/pathology , Whole Exome Sequencing
Int J Paleopathol ; 28: 69-87, 2020 03.
Article En | MEDLINE | ID: mdl-31982797

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.

Ankylosis/history , Knee Joint/pathology , Adult , Ankylosis/pathology , Female , History, Medieval , Humans , London
Int J Paleopathol ; 28: 59-68, 2020 03.
Article En | MEDLINE | ID: mdl-31951851

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.

Hyperostosis, Diffuse Idiopathic Skeletal/pathology , Aged , Aged, 80 and over , Ankylosis/pathology , Female , Humans , Male , Middle Aged
J Craniomaxillofac Surg ; 47(12): 1903-1912, 2019 Dec.
Article En | MEDLINE | ID: mdl-31812309

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.

Ankylosis/surgery , Arthroplasty , Physical Therapy Modalities , Temporomandibular Joint Disorders/surgery , Adolescent , Adult , Ankylosis/pathology , Female , Follow-Up Studies , Humans , Male , Patient Compliance , Recovery of Function , Retrospective Studies , Temporomandibular Joint , Temporomandibular Joint Disorders/pathology
Sci Rep ; 9(1): 10493, 2019 07 19.
Article En | MEDLINE | ID: mdl-31324825

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.

Ankylosis/complications , Temporomandibular Joint Disorders/complications , Temporomandibular Joint/pathology , Adolescent , Adult , Ankylosis/diagnostic imaging , Ankylosis/pathology , Ankylosis/surgery , Female , Humans , Male , Retrospective Studies , Temporomandibular Joint/diagnostic imaging , Temporomandibular Joint/surgery , Temporomandibular Joint Disorders/diagnostic imaging , Temporomandibular Joint Disorders/pathology , Temporomandibular Joint Disorders/surgery , Tomography, X-Ray Computed , Young Adult
Pan Afr Med J ; 32: 151, 2019.
Article Fr | MEDLINE | ID: mdl-31303922

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.

Ankylosis/diagnosis , Osteoarthritis/diagnosis , Temporomandibular Joint Disorders/diagnosis , Ankylosis/pathology , Female , Humans , Middle Aged , Osteoarthritis/pathology , Temporomandibular Joint/pathology , Temporomandibular Joint Disorders/pathology
Mol Med Rep ; 19(5): 4297-4305, 2019 May.
Article En | MEDLINE | ID: mdl-30942403

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.

Ankylosis/etiology , Ankylosis/pathology , Pterygoid Muscles/metabolism , Pterygoid Muscles/pathology , Temporomandibular Joint Disorders/etiology , Temporomandibular Joint Disorders/pathology , Wounds and Injuries/complications , Animals , Computational Biology , Disease Models, Animal , Gene Expression Profiling , Gene Ontology , Oligonucleotide Array Sequence Analysis , Reproducibility of Results , Sheep , Transcriptome
Sci Rep ; 9(1): 385, 2019 01 23.
Article En | MEDLINE | ID: mdl-30674962

The purpose of this study was to compare the clinical outcomes of ultrasonic surgery to the conventional bone cutting technique using bur and saw for the release of ankylosis of temporomandibular joint. We conducted a prospective cohort study on 25 patients with 38 ankylotic joints at Chinese PLA General Hospital from March 01, 2012 to March 01, 2016. Patients were followed up at least 2 years postoperatively. The primary outcome was the intraoperative blood loss per joint. The secondary outcome was the long-term (≥2 years) improvement of maximum mouth opening. The blood loss was significantly reduced in the ultrasonic group compared to the conventional group (107.3 ± 62.3 ml vs. 186.3 ± 92.6 ml, P = 0.019). The long-term improvements of maximum mouth opening were substantial and stable in both groups (33.5 ± 4.8 mm in the ultrasonic group vs. 29.2 ± 6 mm in the conventional group, P = 0.06). Multivariate linear regression analysis showed a significant association between blood loss and technique used (coefficient: 66.3, 95% confidence interval: 22.1,110.4, P = 0.006). The ultrasonic surgery was associated with less intraoperative blood loss when compared to the conventional method for the release of ankylosis of temporomandibular joint while providing a stable and comparable long-term improvement of maximum mouth opening.

Ankylosis/surgery , Arthroplasty , Blood Loss, Surgical/prevention & control , Temporomandibular Joint Disorders/surgery , Temporomandibular Joint/surgery , Ultrasonic Surgical Procedures , Adult , Ankylosis/pathology , Female , Humans , Male , Middle Aged , Prospective Studies , Temporomandibular Joint/pathology , Temporomandibular Joint Disorders/pathology
PLoS One ; 13(10): e0204951, 2018.
Article En | MEDLINE | ID: mdl-30356279

Paleopathologies document skeletal damage in extinct organisms and can be used to infer the causes of injury, as well as aspects of related biology, ecology and behavior. To date, few studies have been undertaken on Jurassic marine reptiles, while ichthyosaur pathologies in particular have never been systematically evaluated. Here we survey 41 specimens of the apex predator ichthyosaur Temnodontosaurus from the Early Jurassic of southern Germany in order to document the range and absolute frequency of pathologies observed in this taxon as a function of the number of specimens examined. According to our analysis, most observed pathologies in Temnodontosaurus are force-induced traumas with signs of healing, possibly inflicted during aggressive interactions with conspecifics. When the material is preserved, broken ribs are correlated in most of the cases with traumas elsewhere in the skeleton such as cranial injuries. The range of cranial pathologies in Temnodontosaurus is similar to those reported for extinct cetaceans and mosasaurs, which were interpreted as traces of aggressive encounters. Nevertheless, Temnodontosaurus differs from these other marine amniotes in the absence of pathologies in the vertebral column, consistent with the pattern previously documented in ichthyosaurs. We did not detect any instances of avascular necrosis in Temnodontosaurus from southern Germany, which may reflect a shallow diving life style. This study is intended to provide baseline data for the various types of observed pathologies in large ichthyosaurs occupying the 'apex predator' niche, and potentially clarifies aspects of species-specific behavior relative to other ichthyosaurs and marine amniotes.

Bone and Bones/pathology , Fossils , Animals , Ankylosis/pathology , Bone Remodeling , Fractures, Bone/pathology , Germany , Reptiles , Ribs/pathology , Skull/pathology , Wound Healing
J Oral Maxillofac Surg ; 76(9): 1951.e1-1951.e24, 2018 09.
Article En | MEDLINE | ID: mdl-29908889

PURPOSE: The aim of this experimental study was to investigate the role of the fibrous layer of the condylar head in the formation of temporomandibular joint (TMJ) ankylosis in a sheep model of intracapsular condylar fracture. MATERIALS AND METHODS: Six growing Xiao-wei Han sheep were used in the study, and bilateral TMJ surgery was performed in each sheep. In the left TMJ, sagittal fracture of the condyle, removal of the fibrous layer of the condylar head, excision of two thirds of the disc, and removal of the fibrous zone of the glenoid fossa were performed. In the right TMJ, the same surgical management was performed, except that in each sheep, the fibrous layer of the condylar head was preserved. Three sheep were killed humanely at 1 month postoperatively, and the other 3 sheep were killed humanely at 3 months postoperatively. The TMJ complexes were examined by histologic evaluation. RESULTS: Fibrous ankylosis was observed on the left side in 3 sheep at 1 month postoperatively and in 2 of 3 sheep at 3 months postoperatively. Fibro-osseous ankylosis was achieved on the left side in 1 sheep at 3 months postoperatively. In the right TMJ, the main postoperative histologic findings included condylar fracture healing, topical rupture or exfoliation of the fibrous layer of the condyle, and fissure between the fibrous layer and the proliferative zone of the condyle. However, no evidence of ankylosis was observed. The TMJ ankylosis scores on the right side were significantly lower than those on the left side at different time points (P < .05). CONCLUSIONS: This study showed that the presence of the fibrous layer of the condylar head prevented the development of TMJ ankylosis in a sheep model of intracapsular condylar fracture.

Ankylosis/pathology , Connective Tissue/pathology , Mandibular Condyle/injuries , Mandibular Condyle/pathology , Mandibular Fractures/pathology , Temporomandibular Joint Disorders/pathology , Animals , Disease Models, Animal , Sheep , Tomography, X-Ray Computed
Cytokine Growth Factor Rev ; 39: 71-91, 2018 02.
Article En | MEDLINE | ID: mdl-29153709

Hemophilic arthropathy (HA) is one of the most common and typical manifestation in the course of recurrent bleeding episodes in patients with hemophilia. Clinical and subclinical joint bleeding episodes gradually lead to irreversible changes manifesting themselves as pain, progressing ankylosis, marked limitation of the range of motion, muscle atrophy and osteoporosis commonly concomitant with joint deformity resulting from chronic proliferative synovitis and both cartilage and bone degeneration leading to the final functional impairment of the joint. In spite of numerous studies, the pathophysiology of HA has not been fully elucidated, especially as regards immunopathological mechanisms which are associated with the subclinical and early stage of the disease and to be more precise, with chronic joint inflammation. It needs to be emphasized that the pathophysiological processes occurring in a joint with HA are most probably highly mediated by interactions within the cytokine network and other inflammatory mediators present in the tissues of affected joint. Among numerous compounds participating in the induction of an inflammatory process in the pathogenesis of HA, cytokines seem to play a leading role. The most important group controlling the disease seems to be well known inflammatory cytokines, including IL-1ß, TNFα and IL-6. The second group with antagonistic effect is formed by anti-inflammatory cytokines such as IL-4 and IL-10. The role of inflammatory and anti-inflammatory cytokines in the pathogenesis of HA with respect to cellular and intracellular signaling pathways is still under investigation. This review, summarizes and discusses the current knowledge about cytokine network in the pathogenesis of HA, indicating possible molecular and cellular mechanisms that may provide potential new therapeutic directions.

Cytokines/immunology , Hemophilia A/pathology , Inflammation/immunology , Joint Diseases/immunology , Ankylosis/immunology , Ankylosis/pathology , Bone and Bones/pathology , Hemophilia A/complications , Hemophilia A/immunology , Humans , Interleukin-10/immunology , Interleukin-4/immunology , Interleukin-6/immunology , Joint Diseases/pathology , Joints/immunology , Joints/pathology , Muscular Atrophy/immunology , Muscular Atrophy/pathology , Osteoporosis/immunology , Osteoporosis/pathology , Signal Transduction , Synovitis/immunology , Tumor Necrosis Factor-alpha/immunology
Int J Paleopathol ; 17: 18-25, 2017 06.
Article En | MEDLINE | ID: mdl-28521909

Animal remains that are unearthed during archaeological excavations often provide useful information about socio-cultural context, including human habits, beliefs, and ancestral relationships. In this report, we present pathologically altered equine first and second phalanges from an 11th century specimen that was excavated at Wroclaw Cathedral Island, Poland. The results of gross examination, radiography, and computed tomography, indicate osteoarthritis of the proximal interphalangeal joint, with partial ankylosis. Based on comparison with living modern horses undergoing lameness examination, as well as with recent literature, we conclude that the horse likely was lame for at least several months prior to death. The ability of this horse to work probably was reduced, but the degree of compromise during life cannot be stated precisely. Present day medical knowledge indicates that there was little likelihood of successful treatment for this condition during the middle ages. However, modern horses with similar pathology can function reasonably well with appropriate treatment and management, particularly following joint ankylosis. Thus, we approach the cultural question of why such an individual would have been maintained with limitations, for a probably-significant period of time.

Ankylosis/history , Horse Diseases/history , Toe Joint/pathology , Animals , Ankylosis/pathology , History, Medieval , Horse Diseases/pathology , Horses , Lameness, Animal/etiology , Lameness, Animal/history , Poland
Vet Comp Orthop Traumatol ; 29(5): 409-15, 2016 Sep 20.
Article En | MEDLINE | ID: mdl-27439984

OBJECTIVE: To describe the clinical features and results of treatment of true ankylosis and pseudoankylosis of the temporomandibular joint in dogs. METHODS: This study was a retrospective case series. Ten client-owned dogs that were presented for inability to open the mouth or a severely decreased range of motion of the temporomandibular joint were included. Information on the surgical procedures performed and the perioperative complications were documented. Three-dimensional printing of the skull was performed in four dogs. RESULTS: Two dogs were diagnosed with temporomandibular joint ankylosis and seven dogs with pseudoankylosis. One dog had evidence of combined temporomandibular joint ankylosis and pseudoankylosis. Of the seven dogs with pseudoankylosis, six had an osseous fusion involving the zygomatic arch and mandible. Surgical treatment was performed in nine dogs and a revision surgery was needed in one dog. Follow-up ranged from five months to eight years (mean: 48.6 months). Eight out of nine dogs that were treated surgically regained the ability to open their mouth, but six dogs never regained a fully normal temporomandibular joint range of motion. CLINICAL SIGNIFICANCE: Temporomandibular joint ankylosis and pseudoankylosis are uncommon in the dog. Surgical treatment for temporomandibular joint ankylosis or pseudoankylosis in dogs is a successful option and carries a prognosis dependent on patient-specific abnormalities. Computed tomography complemented with three-dimensional printing is valuable for understanding the extent of abnormalities and for preoperative planning.

Ankylosis/veterinary , Dog Diseases/diagnosis , Temporomandibular Joint Disorders/veterinary , Animals , Ankylosis/diagnosis , Ankylosis/pathology , Ankylosis/surgery , Dog Diseases/pathology , Dog Diseases/surgery , Dogs , Female , Male , Printing, Three-Dimensional , Retrospective Studies , Temporomandibular Joint/diagnostic imaging , Temporomandibular Joint/pathology , Temporomandibular Joint/surgery , Temporomandibular Joint Disorders/diagnosis , Temporomandibular Joint Disorders/pathology , Temporomandibular Joint Disorders/surgery , Tomography, X-Ray Computed/veterinary
Rev Stomatol Chir Maxillofac Chir Orale ; 117(5): 351-356, 2016 Nov.
Article En | MEDLINE | ID: mdl-27473929

INTRODUCTION: Dislocation of the mandibular condyle into the middle cranial fossa after a trauma is a rare event. The lack of appropriate treatment can lead to ankylosis of the temporomandibular joint (TMJ). We report about a case of TMJ ankylosis following intracranial dislocation of the mandibular condyle through the roof of the articular fossa. CASE REPORT: A 9-year-old patient was referred for a severe limitation of mouth opening that began progressively one year before. A history of chin injury due to an accidental fall was found. Preoperative CT scan showed a TMJ ankylosis on the right side combined with a dislocation of the mandibular condyle into the middle cranial fossa. Treatment consisted in an intracranial resection of the mandibular condyle, partial removal of the ankylosis block and TMJ arthroplasty. DISCUSSION: Our case is the second case of TMJ ankylosis following intracranial dislocation of the mandibular condyle and treated with arthroplasty alone published in the English literature. There is no consensus regarding the pathophysiology of TMJ ankylosis and regarding the attitude towards the ankylosis block. In our case, no recurrence was noticed after a one-year follow-up. An interdisciplinary approach is needed, including maxillofacial surgeon, neurosurgeon, physiotherapist and orthodontist.

Ankylosis/pathology , Cranial Fossa, Middle/pathology , Joint Dislocations/pathology , Mandibular Condyle/pathology , Temporomandibular Joint Disorders/pathology , Temporomandibular Joint/pathology , Accidental Falls , Ankylosis/etiology , Ankylosis/surgery , Child , Cranial Fossa, Middle/surgery , Humans , Joint Dislocations/etiology , Joint Dislocations/surgery , Male , Mandibular Condyle/surgery , Temporomandibular Joint/surgery , Temporomandibular Joint Disorders/etiology , Temporomandibular Joint Disorders/surgery
Calcif Tissue Int ; 98(2): 140-8, 2016 Feb.
Article En | MEDLINE | ID: mdl-26463185

Diffuse idiopathic skeletal hyperostosis (DISH) is a common skeletal disorder in the elderly, which can develop into periosteal hyperostosis and paradoxically into immobilization-associated trabecular osteoporosis. The bone anabolic agent, teriparatide (TPD), seems to be a rational treatment for the immobilization-associated osteoporosis. However, it can lead to development of hyperostosis lesions in DISH patients. Here, we demonstrate TPD effectively treats trabecular osteoporosis while simultaneously promoting ankylosis of the spine in DISH model tiptoe-walking Yoshimura (twy) mice, compared with the ICR mice. Eighteen male twy mice were divided into three groups, and ICR mice were used as a normal control. Subcutaneous injections of TPD or phosphate-buffered saline (PBS) were performed according to three dosing regimens; 40 µg/kg once daily (TPD × 1 group), 40 µg/kg three times daily (TPD × 3 group), and PBS (control; Ctl group). Treatment was commenced at the age of 7 weeks and continued for 5 weeks. Micro-computed tomography (µCT) and histological analysis were performed. Longitudinal µCT study revealed that trabecular bone volume in both the vertebral body and distal femur decreased with time in the Ctl group, but increased dramatically in the TPD × 3 group. The twy mice developed ankylosis of the spine, the progression of which was accelerated with TPD therapy. We also confirmed that TPD therapy promoted ossification of spinal ligaments. Histomorphometrical study revealed that TPD treatment increased bone formation at the vertebrae enthesis region and in the trabecular bone. TPD therapy effectively treats trabecular osteoporosis, but potentially promotes ankylosis of the spine in patients with DISH.

Ankylosis/chemically induced , Bone Density Conservation Agents/pharmacology , Hyperostosis, Diffuse Idiopathic Skeletal/pathology , Osteoporosis/pathology , Spinal Diseases/chemically induced , Teriparatide/pharmacology , Animals , Ankylosis/pathology , Disease Models, Animal , Hyperostosis, Diffuse Idiopathic Skeletal/complications , Male , Mice , Mice, Inbred ICR , Osteoporosis/etiology , Spinal Diseases/pathology , X-Ray Microtomography
Clin Exp Rheumatol ; 34(1): 49-52, 2016.
Article En | MEDLINE | ID: mdl-26575013

OBJECTIVES: Ankylosis, or spontaneous bone fusion, of the small joints of the hand is a rare event in patients with rheumatoid arthritis (RA), being observed in 0.8% of them on conventional radiographs. It is associated with long-lasting and severe disease. In other settings, such as fracture healing, bone fusion is a reparative process. The aim of this paper is the study of the frequency of wrist ankylosis in patients with RA in comparison with other arthritides; to correlate ankylosis with disease activity. METHODS: A total of 94 patients affected by RA, 71 patients with different rheumatic conditions and 42 controls with no joint disease or with slight hand osteoarthritis were studied. DAS-28 CRP was calculated in patients with RA and psoriatic arthritis. MRI of the clinically most involved wrist was performed with a 0.2 T, extremity-dedicated MRI system. RESULTS: Of RA patients, 10/94 (10.6%) showed ankylosis in comparison with 2/113 (1.8%) controls (p=0.015). RA patients with ankylosis had longer disease duration (p=0.019) but similar disease activity. CONCLUSIONS: MRI-defined bone ankylosis is frequent in RA. It is not limited to seronegative spondyloarthritides and may be part of the bone damage observed in RA.

Ankylosis/pathology , Arthritis, Rheumatoid/pathology , Magnetic Resonance Imaging , Wrist Joint/pathology , Adult , Aged , Aged, 80 and over , Case-Control Studies , Disease Progression , Equipment Design , Female , Humans , Magnetic Resonance Imaging/instrumentation , Male , Middle Aged , Predictive Value of Tests , Prognosis , Severity of Illness Index
Rev Stomatol Chir Maxillofac Chir Orale ; 116(6): 368-71, 2015 Dec.
Article Fr | MEDLINE | ID: mdl-26598241

INTRODUCTION: Among the skeletal causes of limited mouth opening, uni- or bilateral coronoid process hypertrophy, or Langenbeck disease, is the most frequent. It can be associated with an osteochondroma or a coronoid-malar bone conflict and is then called Jacob disease, an unilateral pathology. Treatment rests on coronoidectomy in both cases. This technique is illustrated via two cases, one Langenbeck and one Jacob disease. TECHNICAL NOTE: A transoral approach was performed. After subperiosteal dissection, the coronoid process was cleared. The process was than severed at its base by means of a burr, freed from its temporal muscular fibers and removed. Mouth opening improved peroperatively. The surgical procedure was completed by active long-term physiotherapy beginning immediately after surgery. DISCUSSION: Transoral coronoidectomy is a simple, quick and safe procedure. Extra-oral approaches present a high risk of facial nerve injury. In our first case, mouth opening improved from 24 to 36 mm after bilateral coronoidectomy and to 40 mm after physiotherapy. In our second case, mouth opening improved from 22 to 38 mm after unilateral coronoidectomy and to 43 mm after one year physiotherapy. Long-term post-operative physiotherapy is mandatory to get and maintain good results.

Ankylosis/surgery , Mandible/surgery , Mouth Diseases/surgery , Oral Surgical Procedures/methods , Temporomandibular Joint/surgery , Zygoma/surgery , Ankylosis/etiology , Ankylosis/pathology , Ankylosis/rehabilitation , Humans , Mandible/physiology , Mandibular Neoplasms/complications , Mandibular Neoplasms/pathology , Mandibular Neoplasms/rehabilitation , Mandibular Neoplasms/surgery , Mouth Diseases/pathology , Mouth Diseases/physiopathology , Mouth Diseases/rehabilitation , Oral Surgical Procedures/rehabilitation , Osteochondroma/complications , Osteochondroma/pathology , Osteochondroma/rehabilitation , Osteochondroma/surgery , Range of Motion, Articular/physiology , Temporomandibular Joint/pathology , Temporomandibular Joint/physiology , Zygoma/pathology
Hip Int ; 25(6): 549-52, 2015.
Article En | MEDLINE | ID: mdl-26449331

INTRODUCTION: Conversion to total hip arthroplasty (THA) from a fused hip is a challenging procedure because of the technical difficulties involved. Here we report the surgical procedure and the early clinical outcome of conversion THA from a fused hip through a direct anterior approach. METHODS: 9 consecutive THAs following hip fusion were performed in 9 patients. Of these, 6 patients had undergone surgical hip fusion and 3 patients had nonsurgical fusion. RESULTS: The mean time interval between fusion and THA was 29.7 years. The mean follow-up period was 5.2 years. All THAs were performed using a direct anterior approach on a standard surgical table. The mean operative time was 68.7 minutes. The mean intraoperative blood loss was 377 g. All acetabular components were placed within Lewinnek's safe zone. The mean Japanese Orthopaedic Hip Score significantly improved from 54.0 to 73.2. One early anterior dislocation occurred and was treated conservatively. No revision surgery was required. CONCLUSIONS: The direct anterior approach allows for an accurate and less invasive implantation of the total hip components.

Ankylosis/surgery , Arthroplasty, Replacement, Hip/methods , Osteoarthritis, Hip/surgery , Aged , Aged, 80 and over , Ankylosis/etiology , Ankylosis/pathology , Arthrodesis , Female , Follow-Up Studies , Hip Prosthesis , Humans , Middle Aged , Osteoarthritis, Hip/etiology , Osteoarthritis, Hip/pathology , Reoperation , Retrospective Studies , Treatment Outcome