Publications by authors named "Rose Marie Javier"

Advantages and disadvantages of intermittent versus daily vitamin D supplementation especially in adults with or at risk of osteoporosis are discussed by the Osteoporosis Research and Information Group (GRIO). The analysis of the literature suggests that intermittent long-term high doses vitamin D supplementation (such as 60,000IU/month or more), may increase the risk of falls, fracture and premature death in certain populations, while daily doses of 800-1000IU with calcium decrease falls and non-vertebral fractures in the elderly with vitamin D deficiency. In patients with or at risk of osteoporosis we hence recommend measuring the 25(OH)D concentration prior to supplementation and to provide vitamin D supplementation (with optimization of calcium intake if needed) to obtain a concentration between 30 and 60ng/mL.

View Article and Find Full Text PDF
Article Synopsis
  • Osteoporosis is a skeletal disorder leading to increased fracture risk, and when it affects young individuals, it often indicates genetic causes related to early-onset osteoporosis (EOOP).
  • Over 577 patients with primary osteoporosis were studied using next-generation sequencing of 21 bone fragility-related genes, revealing that around 18% had a genetic basis, primarily linked to the LRP5 gene.
  • A rare finding included 17 patients with a variant in the PLS3 gene, suggesting the involvement of dominant X-linked osteoporosis, predominantly affecting males, but also identified severe cases in females, pointing toward possible genetic interactions.
View Article and Find Full Text PDF
Article Synopsis
  • Advanced systemic mastocytosis (AdvSM) is a complex condition linked to poor outcomes, and while midostaurin is the first approved treatment, its long-lasting effectiveness is limited.
  • Various prognostic scoring systems like MARS, IPSM, and GPSM have been developed to assess patients' outcomes, but it's essential to tailor these scores to specific AdvSM subtypes for better accuracy.
  • A study of patients treated with midostaurin revealed that MARS and AdvSM subtype significantly predict overall survival, identifying five distinct patient subgroups with varying median survival times, highlighting the need for personalized management strategies.
View Article and Find Full Text PDF

Systemic mastocytosis (SM) corresponds to a rare and heterogeneous spectrum of diseases characterized by the accumulation of atypical mast cells (MCs). Advanced mastocytosis (Adv-SM) is associated with poor survival; in contrast, patients with non-advanced SM (non-Adv-SM) usually have a normal life expectancy but may experience poor quality of life. Despite recent therapeutic progress including tyrosine kinase inhibitors, new treatment options are needed for refractory and/or intolerant patients with both severely symptomatic and Adv-SM.

View Article and Find Full Text PDF

Background And Aims: Systemic mastocytosis (SM) is characterized by the accumulation of atypical mast cells (MCs) in organs. Liver histology of SM has been marginally described and accurate histological classification is critical, given the consequences of aggressive SM diagnosis. We aimed to describe the histological features associated with liver SM using updated tools.

View Article and Find Full Text PDF

Objectives: To assess the ability of dual-energy X-ray absorptiometry (DXA) and hand-grip dynamometer to measure damage in inflammatory myopathies (IM).

Methods: Forty adult IM patients with a disease duration ≥12 months, low or no disease activity for ≥6 months, were prospectively enrolled. Thirty healthy age and sex-matched volunteers were enrolled as controls.

View Article and Find Full Text PDF

Background: Mastocytosis and monoclonal mast cell (MC) activation syndrome (MMAS) are heterogeneous conditions characterized by the accumulation of atypical MCs. Despite the recurrent involvement of KIT mutations, the pathophysiologic origin of mastocytosis and MMAS is unclear. Although hereditary α-tryptasemia (HαT, related to TPSAB1 gene duplication) is abnormally frequent in these diseases, it is not known whether the association is coincidental or causal.

View Article and Find Full Text PDF

Background And Objective: Anti-osteoporosis (OP) drugs have been suggested to contribute to pain reduction during OP management. This scoping review aimed at mapping the literature on pain relief with anti-OP drugs in OP treatment.

Databases And Data Treatment: Medline, Pubmed and Cochrane databases were searched by two reviewers with keywords combinations.

View Article and Find Full Text PDF

Introduction: This article presents the initial recommendations of the Groupe de Recherche et d'Information sur les Ostéoporoses (Osteoporosis Research and Information Group [GRIO]) and the Société Française de Rhumatologie (French Rheumatology Society [SFR]) on the prevention and treatment of osteoporosis secondary to bariatric surgery.

Methods: The recommendations were produced by a working group comprising 4 expert rheumatologists, 3 medically qualified nutritionists, 2 obesity surgeons, 1 physical activity specialist, and 1 patient-association representative.

Results: The following generally recommended measures apply to all patients with an indication for bariatric surgery or who have already undergone bariatric surgery: normalize calcium and protein intake, attain a 25(OH) vitamin D concentration of between 30 and 60ng/mL; prevent the risk of falls, and introduce a suitable regimen of physical activity.

View Article and Find Full Text PDF

Background: Pregnancy and breastfeeding are associated with bone density loss. Fracture occurrence during pregnancy and post-partum, and its determinants, remain poorly known in Osteogenesis Imperfecta (OI). The aim of this study was to characterize fractures that occurred during pregnancy and post-partum in OI patients.

View Article and Find Full Text PDF
Article Synopsis
  • The study aimed to understand COVID-19 prevalence and risk factors in patients with rare autoimmune diseases.
  • Around 1,232 patients were contacted, with 1,055 being included; 469 were tested for SARS-CoV-2.
  • Of those tested, 39 (7.9%) had COVID-19, with most experiencing symptoms; infected patients reported more disease flare-ups compared to uninfected patients.
  • The overall seroprevalence of SARS-CoV-2 was found to be 6.6%, which is lower than the general population estimate for that region.
View Article and Find Full Text PDF

Introduction: Given the COVID-19 pandemic, it is crucial to understand the underlying behavioural determinants of SARS-CoV-2 vaccine hesitancy in patients with autoimmune or inflammatory rheumatic diseases (AIIRDs). We aimed to analyse patterns of beliefs and intention regarding SARS-CoV-2 vaccination in AIIRD patients, as a mean of identifying pragmatic actions that could be taken to increase vaccine coverage in this population.

Methods: Data relating to 1258 AIIRD patients were analysed using univariate and multivariate logistic regression models, to identify variables associated independently with willingness to get vaccinated against SARS-CoV-2.

View Article and Find Full Text PDF

Objective: Atrial fibrillation (AF) may be triggered by intravenous bisphosphonates (IVBPs) such as zoledronic acid or pamidronic acid. Our objective was to confirm the association between AF and IVBPs in a real-life large pharmacovigilance database.

Design: A systematic analysis of VigiBase, the World Health Organization's pharmacovigilance database.

View Article and Find Full Text PDF

Background: Pain remains a prevalent symptom for rheumatoid arthritis (RA) patients despite a wide therapeutic choice. The objective of this study was to provide a multidimensional evaluation of pain.

Methods: A total of 295 RA patients from 7 French rheumatology centres were enrolled in a cross-sectional study.

View Article and Find Full Text PDF

Objectives: Given the scope of rheumatology and its prevalence of pain, it seems needed that a study should focus on prescription habits, in the midst of the international opioid epidemic and given the moderate efficacy of strong opioids in chronic musculoskeletal conditions. We compared rheumatologists' opioid prescribing patterns in non-cancer pain with recommended practice.

Methods: We performed a cross-sectional study of the French health insurance database, including all patients aged 16 years or over reimbursed for at least one strong opioid prescription from a rheumatologist in 2015.

View Article and Find Full Text PDF

Aim: To describe changes in the 2001-2014 mortality of 6 autoimmune systemic diseases (AISDs), namely Systemic Lupus Erythematosus (SLE), Systemic Sclerosis (SSc), Idiopathic Inflammatory Myopathies (IIM), Sjögren's Syndrome (SS), Mixed Connective Tissue Disease (MCTD) and ANCA-associated vasculitis (AAV) at the country-, continent-, and world-levels.

Methods: Mortality data were retrieved from the World Health Organization (WHO) mortality database for each disease, based on ICD-10 codes. We computed age-standardized mortality rate (ASMR) as the estimated number of deaths per million inhabitants and its 95% confidence interval (95%CI).

View Article and Find Full Text PDF

Standard adjuvant therapies for breast cancer such as chemotherapy or aromatase inhibitor and LH-RH agonist hormone therapy are associated with significant survival gains but also induce bone loss by aggravating the estrogen deprivation. The bone loss may be substantial, notably during early treatment, and occurs regardless of the baseline bone mineral density values. The objective of developing these recommendations was to achieve a practical consensus among various scientific societies, based on literature review, about osteoporosis prevention and treatment in these patients.

View Article and Find Full Text PDF

With intermittent vitamin D supplementation, serum 25-hydroxyvitamin D (25OHD) levels may remain stable only if the dosing interval is shorter than 3 months, the ideal perhaps being about 1 month. Recent data support moderate daily vitamin D doses instead of high intermittent doses, notably in elderly patients prone to falls. The level of evidence is low, however, with no head-to-head comparisons of clinical outcomes such as fractures and falls in groups given identical dosages daily versus intermittently.

View Article and Find Full Text PDF

Context: Obesity and its associated comorbidities are a recognized and growing public health problem. For a long time, obesity-associated effects on bone were considered to strengthen the bone, mainly because of the known relationship between body weight and bone mass and the long-term weight-bearing load effect on bone. However, recent epidemiologic studies have shown that obesity may not have a fully protective effect on the occurrence of fragility fractures.

View Article and Find Full Text PDF