Development of Spinal Enthesopathies in Adults With X-linked Hypophosphatemia.

CONTEXT: Musculoskeletal complications are the main manifestations in adults with X-linked hypophosphatemia (XLH). Enthesopathy significantly impairs quality of life. OBJECTIVE: To identify the risk factors associated with the development and progression of spinal enthesopathies in adults with XLH. DESIGN AND SETTING: We conducted a retrospective study in the French Reference Center for Rare Diseases of the Calcium and Phosphate Metabolism. PATIENTS: Adults XLH patients with 2 EOS® imaging performed at least 2 years apart at the same center between June 2011 and March 2022. The progression of enthesopathies was defined as a new enthesopathy at least 1 intervertebral level in patients with or without presence of enthesopathy at baseline. MAIN OUTCOME MEASURES: Demographic, treatment, PHEX mutation with the progression of enthesopathies. RESULTS: Fifty-one patients (66.7% of women, mean age 42.1 ± 13.4 years) underwent 2 EOS imaging with an average interval of 5.7 (± 2.31) years.Progression of spinal enthesopathies was observed in 27 (52.9%) patients. In univariate analysis, patients with a progression of spinal enthesopathies were significantly older (P < .0005), were significantly older at treatment initiation (P = .02), presented with dental complications (P = .03), received less frequently treatment during childhood with phosphate and/or vitamin D analogs (P = .06), and presented more frequently with hip osteoarthritis (P = .002) at baseline. In multivariate analysis, none of these factors was associated with a progression of spinal enthesopathies. CONCLUSION: This study confirms the high proportion of patients with a progression of spinal enthesopathies. Age seems to be the main factor associated with progression.

Prevalence of Enthesopathies in Adults With X-linked Hypophosphatemia: Analysis of Risk Factors.

CONTEXT: Enthesopathies are the determinant of a poor quality of life in adults with X-linked hypophosphatemia (XLH). OBJECTIVE: To describe the prevalence of patients with enthesopathies and to identify the risk factors of having enthesopathies. METHODS: Retrospective study in the French Reference Center for Rare Diseases of the Calcium and Phosphate Metabolism between June 2011 and December 2020. Adult XLH patients with full body X-rays performed using the EOS® low-dose radiation system and clinical data collected from medical records. The main outcome measures were demographics, PHEX mutation, conventional treatment, and dental disease with the presence of enthesopathies. RESULTS: Of the 114 patients included (68% women, mean age 42.2 ± 14.3 years), PHEX mutation was found in 105 patients (94.6%), 86 (77.5%) had been treated during childhood. Enthesopathies (spine and/or pelvis) were present in 67% of the patients (n = 76). Patients with enthesopathies were significantly older (P = .001) and more frequently reported dental disease collected from medical records (P = .03). There was no correlation between the PHEX mutations and the presence of enthesopathies. Sixty-two patients had a radiographic dental examination in a reference center. Severe dental disease (number of missing teeth, number of teeth endodontically treated, alveolar bone loss, and proportion of patients with 5 abscesses or more) was significantly higher in patients with enthesopathies. CONCLUSION: Adult XLH patients have a high prevalence of enthesopathies in symptomatic adults patients with XLH seen in a reference center. Age and severe dental disease were significantly associated with the presence of enthesopathies.

Adult rheumatologic features, treatment and complications of X-linked hypophosphatemia.

X-linked hypophosphatemia (XLH) is a rare genetic phosphate disorder caused mainly by PHEX mutations. Unlike for children, knowledge of the disease's manifestations in adults is limited. Musculoskeletal symptoms are the main feature of the disease in young adults associated with a heavy burden on patients' life. They include fractures and pseudofractures, pain, joint stiffness, osteoarthritis, enthesopathies, and muscle weakness, eventually leading to impaired quality of life. Conventional treatment with phosphate supplements and vitamin D analogs is indicated in symptomatic patients. Appropriate rehabilitation is also a key to the management of the disease to improve physical function and decrease pain, stiffness, and fatigue. Regarding the incidence and consequences of musculoskeletal features in XLH, all patients should be assessed by a bone disease specialist and, if necessary, managed by a multidisciplinary team.

Challenging definitions and diagnostic approaches for ancient rare diseases: The case of poliomyelitis.

OBJECTIVE: This paper aims to contribute to the definition of ancient rare diseases in skeletons displaying pathologies associated with paralysis. It uses a new suite of methods, which can be applied to challenging cases of possible paralysis in archaeologically-derived human skeletal material, specifically applied to the identification of poliomyelitis. MATERIALS: An adult male skeleton from Roman Halbturn, Austria. METHODS: Morphological and entheseal change analyses, CT scans, X-rays, cross-section morphology, and histology, alongside modern clinical, as well as historic, literature were used to discuss paralyses. RESULTS: The results suggest a diagnosis of poliomyelitis; now considered a rare disease, but perhaps ubiquitous in antiquity, thus complicating the definition of 'rare disease'. CONCLUSIONS: The integrated methodological procedures employed for this case constitutes a replicable and thorough approach to diagnosis, and explores the nature of ancient rare diseases. Due to the socio-environmental aspects of poliomyelitis transmission, it is likely that polio was likely not rare in the past. Therefore, the definition of 'rare diseases in the past' must include rarely occurring rarely diagnosed diseases due to biases and challenges within the archaeological and environmental record. SIGNIFICANCE: The developed suite of methods has not been applied to establish a diagnosis of polio in the past. LIMITATIONS: The individual considered in this study is fairly well-preserved; thus, this set of analyses may not be applicable to all remains where preservation is poor or highly fragmentary, and the discussion of rare diseases requires relatively secure diagnoses and context. SUGGESTIONS FOR FURTHER RESEARCH: Large collections and series of skeletal human remains are recommended to develop definitive conclusions.

Differences between diffuse idiopathic skeletal hyperostosis and spondyloarthritis.

Diffuse idiopathic skeletal hyperostosis (DISH) is a skeletal syndrome that has been known for more than 70 years. Yet, its pathogenesis and treatment options are still under investigation. DISH and spondyloarthritidies may manifest itself clinically as very similar disorders causing impaired axial flexibility, axial pain and peripheral tendinopathies. On the other hand, these two processes are different in many ways, from different genetic and metabolic predispositions, to different clinical and imaging manifestations, and at last, a different attitude toward treatment. The knowledge of the similarities and differences between DISH and spondyloarthritidies can guide the clinician toward a better diagnostic and treatment approach. This review tries to emphasize these details.

Clinical applications of nuclear medicine in the diagnosis and assessment of musculoskeletal sports injuries. / Aplicaciones clínicas de la medicina nuclear en el diagnóstico y evaluación de las lesiones deportivas musculoesqueléticas.

Increased participation in sports and physical exercise are widely promoted as an approach to a physically active lifestyle which has a positive effect on healthy aging, in patients and athletes of all ages, beginners and experts, including amateur athletes and professional athletes. Unfortunately, this has caused a higher incidence of sports-related injuries. In the sports context, the early and accurate diagnosis of injuries is of the utmost importance in order to enable early treatment to achieve a full recovery. Imaging techniques are increasingly important for the successful diagnosis and management of the patient. The nuclear medicine techniques with bone tracers provide physiological and metabolic information in the early phases of musculoskeletal injuries, which often precede anatomical changes and they reflect changes in bone turnover. This allows early diagnosis, along with evaluation of the activity and phase of the injury. In this article, the applications of nuclear medicine techniques, focusing on bone scintigraphy, alongside the important contribution of hybrid studies (SPECT/CT), in the diagnosis of bone and soft tissue sports injuries, will be described. In addition, we explain their usefulness in the expression of the pathophysiology of these lesions and their scintigraphic patterns. The article will also describe biomechanical and physiopathological aspects, injury mechanisms and clinical presentations of bone and joint sports injuries, knowledge of this is essential for the correct diagnostic assessment of imaging studies.

Bioarchaeology of the middle Neolithic: evidence for archery among early European farmers.

This article focuses on Neolithic skeletons associated with the first monumental cemeteries of Western Europe and specifically those of the Cerny culture (Paris Basin, France). While this cultural context is an agrarian one, numerous arrowheads derived from complete hunting equipment are present in numerous graves. The goal of this work is to evaluate the morphological and pathological differences among the individuals according to the presence of arrowheads in their graves. It is postulated that those buried with such artifacts practiced archery, unlike their counterparts. Only adult males were selected for study to limit the effect of non-mechanical factors such as age- and sex-related modifications. The corpus consists of 36 males reliably identified among the 101 Cerny adults currently available. Thirteen men are associated with arrowheads. Variations in morphology and robusticity are evaluated on the basis of the external geometric properties of the appendicular skeleton. Entheseal changes to fibrocartilaginous attachment sites of upper and lower limbs are also examined. Both nonpathological skeletal adaptations and pathological indicators are consistent and reveal significant differences between the two groups compared. Functional adaptation is observed in the forearm bones and the clavicle in response to mechanical loads, and enthesopathies suggest repeated forceful use of upper limb muscles. These osteological changes specifically reflect the higher intensity upper limb activity of the men buried with arrowheads and correspond with the medical data on known archers, suggesting that this specific forceful task is linked to the practice of archery.

Rethinking the Possibilities and Limitations of a Study on the Skeletal Markers Reconstructing the General Level of Physical Activity / 체질인류학회지

The reconstruction of activity and of work patterns has been approached by examinations of activity-related skeletal markers. Among several different methods, in particular, a number of anthropologists have widely applied the patterns of enthesopathies and degenerative joint disease in studies of past activity. The purpose of this study is to better understand and use these indicators in reconstructing the levels of physical activities of past populations. This review will provide information on the most recent anthropological research on the behavioral interpretation on degenerative joint disease and enthesopathies, to better use these indicators in understanding past populations. There are obvious limitations in using these markers, and it is necessary to consider them. Firstly, it is uncertain as to whether there are certain activities that are performed repetitively throughout their lives of those who lived in past civilizations. A second limitation involves the etiology of skeletal markers related to mechanical stress. There are multiple-factors, including genetic predisposition, sex, the aging process, and diet that may affect the way people practice a specific activity. Accordingly, this makes it difficult to evaluate the underlying etiological factors and their roles in activity-related skeletal changes. In conclusion, to circumvent these limitations, the use of multiple skeletal markers together in studies of the activities of past populations may enable to more reliable interpretations. However, to ensure more reliable interpretations, the validity of such combinations of makers should be challenged. Therefore, more work on the validity of activity-related markers is needed to clarify the activities that are responsible for the development in life of the features observable in skeletal populations. This type of research can contribute to the discussion of the use of activity-related skeletal markers in studies of behavioral interpretations with more certainty regarding which morphological characteristics are responses to physical activity and mechanical loading as the pathogenesis of such characteristics.