Physical Activity and Psychosocial Outcomes in Adults with Achondroplasia: An Exploratory Study.

Background: Adults with achondroplasia face physical and psychosocial challenges that may impact their health-related quality of life and mental health. This exploratory cross-sectional study aimed to investigate relationships between health-related quality of life, mental health, and physical activity levels in adults with achondroplasia, focusing on potential gender differences.

Methods: Sixteen adults with achondroplasia (10 women, 6 men; age 37.

Zebrafish Models for Skeletal and Extraskeletal Osteogenesis Imperfecta Features: Unveiling Pathophysiology and Paving the Way for Drug Discovery.

In the last decades, the easy genetic manipulation, the external fertilization, the high percentage of homology with human genes and the reduced husbandry costs compared to rodents, made zebrafish a valid model for studying human diseases and for developing new therapeutical strategies. Since zebrafish shares with mammals the same bone cells and ossification types, it became widely used to dissect mechanisms and possible new therapeutic approaches in the field of common and rare bone diseases, such as osteoporosis and osteogenesis imperfecta (OI), respectively. OI is a heritable skeletal disorder caused by defects in gene encoding collagen I or proteins/enzymes necessary for collagen I synthesis and secretion.

Prenatal Ultrasonographic Features Associated With ARSL and X-Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case Series.

Background: Chondrodysplasia punctata 1 (CDPX1) is an X-linked recessive disorder of cartilage and bone development characterized by stippling on the cartilage and bone, flattened nasal bridge, and brachydactyly, or short fingers. CDPX1 has been associated with variants in the ARSL gene and is known to manifest prenatally, however, there has been no systematic literature review on this evidence.

Aims: Here, we reviewed the current literature on prenatal manifestations of CDPX1, and additionally introduce previously unpublished cases.

Treatment indications for symptomatic versus asymptomatic florid cemento-osseous dysplasia in adult patients: a systematic review.

Objectives: The objective of this study was to identify treatment indications for symptomatic and asymptomatic florid cemento-osseous dysplasia (FCOD) in adult patients and explore relationships between clinical variables and radiographic findings (PROSPERO # CRD42023411228).

Study Design: A systematic review was conducted by independent investigators using databases: PubMed, ProQuest, Embase, Web of Science, Dentistry and Oral Sciences Database (DOSS), and TRIP to identify studies on FCOD treatment options in adults. Inclusion criteria for this systematic review included: originally in English; open-access; published between 2001 and 2021.

The role of cytokines in the pathogenesis of SAPHO syndrome.

SAPHO syndrome is a complex inflammatory disorder affecting the skin and bones, characterized by osteomyelitis, acne, and pustulosis. Cytokines play a pivotal role in the pathogenesis of SAPHO syndrome, especially in inflammatory responses and immune regulation. This article reviews the cytokines involved in the pathogenesis of SAPHO syndrome, such as tumor necrosis factor α (TNF-α), interleukin 1β (IL-1β), IL-6, IL-10, and transforming growth factor-β (TGF-β), and discusses their potential as intervention points for treatment.

Fibroblast Activation Protein Is Expressed by Altered Osteoprogenitors and Associated to Disease Burden in Fibrous Dysplasia.

Fibrous dysplasia (FD) is a mosaic skeletal disorder involving the development of benign, expansile fibro-osseous lesions during childhood that cause deformity, fractures, pain, and disability. There are no well-established treatments for FD. Fibroblast activation protein (FAPα) is a serine protease expressed in pathological fibrotic tissues that has promising clinical applications as a biomarker and local pro-drug activator in several pathological conditions.

SATURN: assessing the feasibility of utilising existing registries for real-world evidence data collection to meet patients, regulatory, health technology assessment and payer requirements.

Background: SATURN (Systematic Accumulation of Treatment practices and Utilisation, Real world evidence, and Natural history data) for the rare condition osteogenesis imperfecta (OI) has the objective to create a common core dataset by utilising existing, well-established data sources to meet the needs of the various stakeholders (physicians, registry/dataset owners, patients and patient associations, OI community leaders, European [EU] policymakers, regulators, health technology assessments [HTA]s, and healthcare systems including payers). This paper describes the steps taken to assess the feasibility of one existing OI registry (i.e.