Anterior Chest Wall Non-traumatic Arthropathies: A Crucial but Often Overlooked Site.

OBJECTIVE: The purpose of this study was to describe the distribution of Anterior Chest Wall (ACW) arthropathies in a tertiary care center and identify clinical, biological and imaging findings to differentiate osteoarthritis (OA) from non-osteoarthritis (N-OA) etiologies. METHODS: Search from medical records from January 2009 to April 2022, including patients with manubriosternal and/or sternoclavicular and/or sternocostal joint changes confirmed by ultrasonography, computed tomography or magnetic resonance imaging. The final study group was divided into OA and N-OA subgroups. RESULTS: A total of 108 patients (34 males and 74 females, mean age: 47.3 ± 13 years) were included. Twenty patients had findings of OA, while 88 were diagnosed with N-OA pathologies. SpA was the most common etiology in the N-OA group (n = 75). The other N-OA etiologies were less common: rheumatoid arthritis (n = 4), Synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome (n = 3), infectious arthritis (n = 3) and microcrystalline arthropathies (n = 3). Regarding the distinctive features, ACW pain was the inaugural manifestation in 50% of patients in OA group and 18.2% of patients in N-OA group (p = 0.003); high inflammatory biomarkers were more common in N-OA group (p = 0.033). Imaging findings significantly associated with OA included subchondral bone cysts (p < 0.001) and intra-articular vacuum phenomenon (p < 0.001), while the presence of erosions was significantly associated with N-OA arthropathies (p = 0.019). OA was independently predicted by the presence of subchondral bone cysts (p = 0.026). CONCLUSION: ACW pain is a common but often underestimated complaint. Knowledge of the different non-traumatic pathologies and differentiation between OA and N-OA etiologies is fundamental for appropriate therapeutic management.

Sarcopenia: a new issue in juvenile idiopathic arthritis. A study Protocol.

INTRODUCTION: The decrease in muscle function and mass is defined as sarcopenia. Known for a long time as an age-related disorder, sarcopenia is nowadays well recognized in childhood. Juvenile idiopathic arthritis (JIA), a chronic inflammatory joint disease may be associated with loss of skeletal mass. AIM: This protocol aims to evaluate the prevalence rate of sarcopenia and its associated factors in JIA. METHODS: To evaluate the prevalence rate and factors associated with sarcopenia in juvenile idiopathic arthritis, we are enrolling 30 children with JIA and 30 healthy children aged between 4-and 16 years. Clinical data will report: age, sex, body mass index, disease duration, and therapeutic management. All participants will undergo the Whole-body Dual-energy X-ray absorptiometry to assess the skeletal muscle mass. The muscle strength will be measured using the handgrip dynamometer and adjusted to the body mass index. Data will be analyzed and compared to age and sex reference curves. RESULTS: This study aims to detect sarcopenia in JIA children and identify subsequently the main associated factors. By collecting anthropometric data and extracting the main features of the disease, specific metrics will be extracted. Body composition will be obtained using the DXA scans, including appendicular lean mass and skeletal muscle mass. Muscle strength will also be assessed. CONCLUSION: This study aims to assess sarcopenia in JIA patients, using the sarcopenia update definition. If we will provide conclusive results, it will be possible to better identify the associated factors of sarcopenia and to prevent children from this complication. Clinical trials registration NCT05291416.

Denosumab use in osteogenesis imperfecta: an update on therapeutic approaches.

Osteogenesis imperfecta (OI) is an inherited skeletal disorder that leads to bone fragility and multiple fractures. Given advances in the genetic understanding of existing phenotypes and newly discovered mutations, therapeutic management of OI has become challenging. Denosumab, a monoclonal antibody that inhibits the interaction between the receptor activator of nuclear factor kappa B ligand (RANKL) and its receptor RANK, has been approved to treat postmenopausal osteoporosis and emerged as an important therapy for malignancies and other skeletal disorders, including pediatric skeletal conditions such as OI. This review summarizes information about denosumab therapy in OI by exploring its mechanisms of action, main indications, and safety and efficacy. Several case reports and small series have been published about the short-term use of denosumab in children with OI. Denosumab was considered a strong drug candidate for OI patients with bone fragility and a high risk of fracture, particularly for patients with the bisphosphonate (BP)-unresponsive OI-VI subtype. The evidence for denosumab's effects in children with OI indicates that it effectively improves bone mineral density but not fracture rates. A decrease in bone resorption markers was observed after each treatment. Safety was assessed by tracking the effects on calcium homeostasis and reporting side effects. No severe adverse effects were reported. Hypercalciuria and moderate hypercalcemia were reported, suggesting that BPs be used to prevent the bone rebound effect. In other words, denosumab can be used as a targeted intervention in children with OI. The posology and administration protocol require more investigation to achieve secure efficiency.

Non-pharmacological therapies in Fibromyalgia: New horizons for physicians, new hopes for patients.

INTRODUCTION: Fibromyalgia (FM) is a chronic musculoskeletal condition characterised by reduced quality of life and severe limitations in daily living activities. Considering the wide spectrum of symptoms and the ineffectiveness of a single pharmacological approach, the latest clinical guidelines recommend non-pharmacological therapies as both an alternative and a better-tolerated approach. Several studies have been conducted to determine the effectiveness of non-pharmacological therapies in the management of FM. AIMS: Through a literature review, this paper aims to describe the different complementary therapies and investigate their potential sustainability and effectiveness on FM symptoms in the short and/or long term. METHODS: We searched the PubMed and Google Scholar databases using broad search terms up to June 2022, to identify all types of study designs restricted to human subjects on non-pharmacological therapies in FM. RESULTS: Recent evidence demonstrated that physical activity is the mainstay of therapeutic management, highlighting the relevance of walking as the best method of exercise in FM patients. Nevertheless, adherence to physical activity remains fraught with obstacles that could be overcome with a multimodal and multidisciplinary approach involving a wide range of passive therapies. The effectiveness of passive non-pharmacological therapies remains however unproven in the long term. They can be therefore suggested as 'adjunct' or 'bridge' therapy to improve adherence to physical activity. CONCLUSION: To conclude, FM management requires a multimodal and symptom-based approach, guided by the predominant bothersome symptom on the one hand, and the preferences of each patient on the other hand.

Primary pachydermoperiostosis associated with pigmented villonodular synovitis: An unknown association?

Primary pachydermoperiostosis is a rare genetic disease affecting the skin and musculoskeletal system. In contrast to secondary hypertrophic osteoarthropathy, primary pachydermoperiostosis is considered a benign condition. While a variety of associated abnormalities have been described in this form, any association with tumors was previously reported in the literature. We hereby describe the first case of a 20-year-old man with primary pachydermoperiostosis revealed by a knee synovial tumor.

[Clinical examination of the child's foot]. / Examen clinique du pied de l'enfant.

CLINICAL EXAMINATION OF THE CHILD'S FOOT. The clinical examination of the child's foot is part of the musculoskeletal examination and requires a good knowledge of morphological and physiological features of foot during growth. This article describes the stages of the clinical assessment of the child's foot from walking age onwards, as well as the main disorders to be investigated. The examination consists of a complete physical and musculoskeletal assessment, followed by the foot examination. The latter includes a static examination with inspection of bare feet, followed with a podoscope evaluation, a dynamic examination including an overall analysis of walking, and finally an examination of the footwear. The main static disorders to investigate are the flat foot, defined by the collapse of the internal arch of the foot and considered physiological until the age of 5 or 6, and the Pes Cavus, defined by the accentuation of the plantar arch. A thorough examination, followed by a synthetic clinical reasoning, is necessary to guide the diagnostic and therapeutic management of some disorders.

EXAMEN CLINIQUE DU PIED DE L'ENFANT. L'examen clinique du pied de l'enfant fait partie de l'examen ostéoarticulaire et requiert une bonne connaissance des particularités morphologiques et physiologiques du pied, tout au long de la croissance. Cet article décrit les étapes de l'examen clinique du pied de l'enfant à partir de l'âge de la marche, ainsi que les principales anomalies à rechercher. L'examen est constitué d'un examen physique et ostéoarticulaire complet, précédant celui du pied. Ce dernier comporte un examen statique incluant une inspection des pieds nus en position couchée puis en charge sur un podoscope, un examen dynamique avec analyse globale de la marche, et enfin un examen de la chaussure. Les principaux troubles statiques à rechercher sont le pied plat, défini par l'affaissement de l'arche interne du pied et considéré comme physiologique jusqu'à l'âge de 5 ou 6 ans, et le pied creux, défini par l'accentuation de la voûte plantaire. Un examen complet, suivi d'un raisonnement clinique synthétique, est nécessaire afin de guider la prise en charge diagnostique et thérapeutique devant certaines anomalies.

Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.

Intellectual disability (ID) often co-occurs with other neurologic phenotypes making molecular diagnosis more challenging particularly in consanguineous populations with the co-segregation of more than one ID-related gene in some cases. In this study, we investigated the phenotype of three patients from a large Tunisian family with significant ID phenotypic variability and microcephaly and performed a clinical exome sequencing in two cases. We identified, within the first branch, a homozygous variant in the TRAPPC9 gene (p.Arg472Ter) in two cases presenting severe ID, absent speech, congenital/secondary microcephaly in addition to autistic features, supporting the implication of TRAPPC9 in the "secondary" autism spectrum disorders and congenital microcephaly. In the second branch, we identified a homozygous variant (p.Lys189ArgfsTer15) in the CDK5RAP2 gene associated with an heterozygous TRAPPC9 variant (p.Arg472Ter) in one case harbouring primary hereditary microcephaly (MCPH) associated with an inter-hypothalamic adhesion, mixed hearing loss, selective thinning in the retinal nerve fiber layer and parafoveal ganglion cell complex, and short stature. Our findings expand the spectrum of the recently reported neurosensorial abnormalities and revealed the variable phenotype expressivity of CDK5RAP2 defect. Our study highlights the complexity of the genetic background of microcephaly/ID and the efficiency of the exome sequencing to provide an accurate diagnosis and to improve the management and follow-up of such patients.