Severe Osteoporosis in an Adult Subject with RNU4-2 Gene Mutation.

Recent studies have shown that RNU4-2 pathogenic gene variants are among the most frequent causes of monogenic neurodevelopmental disorders. We present an adult patient with a pathogenic variant in the RNU4-2 gene associated with the presence of severe osteoporosis. A 19-year-old male diagnosed with ReNU syndrome after years of extensive evaluation for a history of developmental delay, seizures, and hearing loss, was referred to our department for osteoporosis evaluation, presenting spontaneous humeral fracture at age 16, and a low-impact fibular fracture at age 8.

Rheumatologic complications of CAR-T Cell therapy. Experience of a single center.

Introduction: Chimeric Antigen Receptor T-cell (CAR-T) therapy has emerged as a promising treatment for hematological malignancies. However, its association with immune-related complications such as rheumatic complications, is not well defined.

Methods: We conducted a retrospective study to analyze rheumatic complications in 310 patients treated with CAR-T therapy at a single center from January 2020 to May 2024.

Actions to Improve the Secondary Prevention of Fragility Fractures in Women with Postmenopausal Osteoporosis: A Social Return on Investment (SROI) Study.

Purpose: This study evaluates the Social Return on Investment (SROI) of implementing measures to prevent fragility fractures in postmenopausal women with osteoporosis (OP) in Spain.

Methods: A group of 13 stakeholders identified necessary actions for improving refracture prevention and assessed the investment required from the Spanish National Health System (SNHS), considering direct, indirect, and intangible costs over a one-year period. Unitary costs were sourced from scientific literature and official data, and intangible costs were estimated through surveys on women's willingness to pay for better health-related quality of life.

Bisphosphonate drug holidays in osteoporosis according to fracture risk profile.

Unlabelled: We analyzed the incidence of fractures and changes in bone mineral density and bone turnover markers in 264 patients who discontinued bisphosphonates. Fractures were recorded in 12.3%.

Resistance to aztreonam-avibactam among clinical isolates of Escherichia coli is primarily mediated by altered penicillin-binding protein 3 and impermeability.

This study was conducted to investigate decreased susceptibility (minimum inhibitory concentrations [MICs] 0.25-4 mg/L) and resistance (MICs > 4 mg/L) to aztreonam-avibactam (ATM-AVI). Contemporary non-replicate clinical isolates of carbapenemase-producing Escherichia coli (CP-EC) (n=90) and ESBL-producing E.

Effect of gender on the evolution of pain and quality of life after treatment of symptomatic vertebral fragility fractures.

Unlabelled: The evolution of pain and quality of life after a symptomatic vertebral fracture differs according to patient gender, with a worse evolution in women independently of the treatment received.

Purpose: In a previous randomized clinical study comparing the effect of vertebroplasty (VP) vs. conservative therapy (CT) on pain evolution and quality of life (QoL) of patients with symptomatic vertebral fractures (VF), we observed the development of chronic back pain in 23% of subjects, independently of the therapy received.

X-linked hypophosphatemic osteomalacia (XLH): Study of 5 adult patients.

Background: X-linked hypophosphatemic osteomalacia (XLH) is an inherited disorder that can cause highly disabling musculoskeletal comorbidities in adulthood.

Objective: To analyze the clinical-radiological characteristics, comorbidities and complications associated with the disease and treatment in an adult population with XLH.

Method: Retrospective study of patients treated for XLH in a rheumatology department in the last 10 years, evaluating the clinical-radiological findings, comorbidities and associated complications.

Effect of moderate beer consumption (with and without ethanol) on osteoporosis in early postmenopausal women: Results of a pilot parallel clinical trial.

Introduction: Osteoporosis is a chronic progressive bone disease characterized by low bone mineral density (BMD) and micro-architectural deterioration of bone tissue, leading to an increase in bone fragility and the risk of fractures. A well-known risk factor for bone loss is postmenopausal status. Beer may have a protective effect against osteoporosis associated with its content of silicon, polyphenols, iso-α-acids and ethanol, and its moderate consumption may therefore help to reduce bone loss in postmenopausal women.

Osteoporosis related to WNT1 variants: a not infrequent cause of osteoporosis.

Unlabelled: Nearly 10% of subjects with severe idiopathic osteoporosis present pathogenic WNT1 mutations. Clinical characteristics include a family history of osteoporosis, early adulthood onset, and fragility fractures which may evolve to pseudoarthrosis. WNT1 should be genetically screened in these patients as the phenotype is often variable and therapeutic approaches may differ.

Health-related quality of life of X-linked hypophosphatemia in Spain.

Background: Health-related quality of life (HRQoL) of patients with X-linked hypophosphatemia (XLH) is lower than that of both the general population and the patients with other chronic diseases, mainly due to diagnostic delay, treatment difficulties, poor psychosocial support, and problems with social integration. Early diagnosis and optimal treatment are paramount to control the disease in patients with XLH, avoid complications, and maintain or improve their HRQoL. We, therefore, analyzed the HRQoL of pediatric and adult patients with XLH treated with conventional therapy in Spain.

Bilirubin increases viability and decreases osteoclast apoptosis contributing to osteoporosis in advanced liver diseases.

Bilirubin and bile acids have deleterious effects on osteoblasts, which may explain the low bone formation of liver diseases with cholestasis. Although there is some clinical evidence of increased bone resorption in this condition, the effects of these substances on osteoclasts are unknown. The objective was to analyze the effects of bilirubin and bile acids -lithocholic acid (LCA) and ursodeoxycholic acid (UDCA)- on osteoclast viability and apoptosis, and on the expression of osteoclast-related microRNAs (miRNAs).

Executive summary clinical practice guideline of postmenopausal, glucocortcioid-induced and male osteoporosis (2022 update). Spanish Society for Bone and Mineral Metabolism Investigation (SEIOMM).

This updated version of the Spanish Society for Research in Osteoporosis and Mineral Metabolism (SEIOMM) osteoporosis guides incorporate the most relevant information published in the last 7 years, since the 2015 guides, with imaging studies, such as vertebral fracture assessment and bone trabecular score analysis. In addition, therapeutic advances include new anabolic agents, comparative studies of drug efficacy, and sequential and combined therapy. Therefore, therapeutic algorithms are also updated.

Clinical practice recommendations for the diagnosis and treatment of X-linked hypophosphatemia: A consensus based on the ADAPTE method.

Background And Objective: The objective of this project was to adapt to our setting following a systematic process based on the ADAPTE method the first clinical practice guidelines on X-linked hypophosphatemia (XLH) that were published in 2019.

Materials And Methods: The adaptation of the guidelines to our application and implementation setting was carried out in three phases -start-up, adaptation, and finalization- by a group of experts involved in the management of patients with XLH.

Results: Following the original guide, the recommendations agreed by the group that elaborated the guidelines for diagnosis, frequency and scope of visits and specific follow-up in children and adults are presented.

Romosozumab Followed by Antiresorptive Treatment Increases the Probability of Achieving Bone Mineral Density Treatment Goals.

Increases in bone mineral density (BMD) with osteoporosis treatment are associated with reduced fracture risk. Increasing BMD is therefore a goal of osteoporosis therapy. Here, we compare the probability of achieving a -score of > -2.

Low serum osteocalcin levels are associated with diabetes mellitus in glucocorticoid treated patients.

Unlabelled: Bone turnover markers are decreased in GC-treated subjects with DM. Decreased OC levels in GC-treated patients were associated with an increased risk of DM. These results suggest the involvement of OC in glucose homeostasis regulation in DM.

Bisphosphonates in inflammatory rheumatic diseases.

The main well recognized action of bisphosphonates (BPs) is their antiresorptive capacity, making them first-line drugs in the treatment of osteoporosis and other metabolic bone diseases. In this review we have compiled other possible actions of BPs, particularly in the areas of immunomodulation, anti-inflammatory capacity and in the prevention of structural joint damage in inflammatory rheumatic diseases. The immunomodulatory capacity of BPs has been focused on the mechanisms involved in the acute-phase response associated with the administration of nitrogen containing BPs (N-BPs), with the stimulus of pro-inflammatory cytokines, through the mevalonate pathway, activation of T-cells and the decrease in the cytotoxic T-lymphocyte antigen-4 (CTLA-4).