Evaluation of circulating microRNA signature in patients with erosive hand osteoarthritis: The HOAmiR study.

Objectives: To identify circulating micro-RNAs differentially expressed in patients with erosive hand osteoarthritis (HOA) compared to patients with non-erosive HOA and patients without HOA.

Methods: In the screening phase, 768 well-characterized micro-RNAs using Taqman low-density array cards were measured in 30 sera from 10 patients with erosive HOA, 10 patients with non-erosive HOA, and 10 controls without HOA, matched for age and body mass index (BMI). In a second step, we validated the micro-RNAs identified at the screening phase (adjusted p value < 0.

Long-term follow-up of severe autosomal recessive SP7-related bone disorder.

The SP7 gene encodes a zinc finger transcription factor (Osterix), which is a member of the Sp subfamily of sequence-specific DNA-binding proteins, playing an important role in osteoblast differentiation and maturation. SP7 pathogenic variants have been described in association with different allelic disorders. Monoallelic or biallelic SP7 variants cause Osteogenesis imperfecta type XII (OI12), a very rare condition characterized by recurrent fractures, skeletal deformities, undertubulation of long bones, hearing loss, no dentinogenesis imperfecta, and white sclerae.

Reassuring Data on the Cardiovascular Risk in Adults With X-linked Hypophosphatemia Receiving Conventional Therapy.

Context: X-linked hypophosphatemia (XLH) is a rare genetic disorder that results in increased plasma levels of fibroblast growth factor 23 (FGF23). Several studies have demonstrated a direct association between FGF23 and cardiovascular mortality in cohorts of patients with chronic renal failure. However, in patients with XLH, studies on the cardiovascular impact of the disease are rare, with contradictory results.

Dysregulation of MicroRNAs in Adult Osteogenesis Imperfecta: The miROI Study.

As epigenetic regulators of gene expression, circulating micro-RiboNucleic Acids (miRNAs) have been described in several bone diseases as potential prognostic markers. The aim of our study was to identify circulating miRNAs potentially associated with the severity of osteogenesis imperfecta (OI) in three steps. We have screened by RNA sequencing for the miRNAs that were differentially expressed in sera of a small group of OI patients versus controls and then conducted a validation phase by RT-qPCR analysis of sera of a larger patient population.

The disability associated with hand osteoarthritis is substantial in a cohort of post-menopausal women: the QUALYOR study.

Objectives: Our primary aims were to assess current prevalence of HOA and the disability associated with this condition, in the group usually most affected, i.e., women older than 55.

Osteogenesis Imperfecta: characterization of fractures during pregnancy and post-partum.

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.

Genetic testing is useful in adults with limited phenotypes of genetic skeletal conditions.

Unlabelled: We show the value of genetic screening in 3 adults with limited phenotypes of three bone sclerosing genetic disease (GD): osteopetrosis (OPT), Camurati-Engelmann disease (CED) and pycnodysostosis.

Introduction: OPT, CED and pycnodysostosis are three rare bone diseases often diagnosed in childhood. However, some atypical phenotypes raise the problem of delayed diagnosis in adults.

The QUALYOR (QUalité Osseuse LYon Orléans) study: a new cohort for non invasive evaluation of bone quality in postmenopausal osteoporosis. Rationale and study design.

Unlabelled: The diagnostic performance of densitometry is inadequate. New techniques of non-invasive evaluation of bone quality may improve fracture risk prediction. Testing the value of these techniques is the goal of the QUALYOR cohort.

Fluoride exposure and bone status in patients with chronic intestinal failure who are receiving home parenteral nutrition.

Background And Objective: Metabolic bone disease is frequent in chronic intestinal failure. Because fluoride has a major effect on bones, the status of both fluoride and bone was studied in long-term home parenteral nutrition (HPN) patients.

Design: We studied 31 adults aged (x +/- SD) 56.

Etanercept treatment for three months is safe in patients with rheumatological manifestations associated with hepatitis C virus.

Objective: The treatment of the rheumatological manifestations associated with hepatitis C virus (HCV) remains difficult. To examine the safety of anti-tumour necrosis factor-alpha treatment, nine patients having rheumatological manifestations associated with HCV were treated with etanercept 25 mg twice a week for 3 months.

Methods: Five patients had a positive viral load at study entry (Group I), four were negative (Group II).

Effects of oral alendronate on BMD in adult patients with osteogenesis imperfecta: a 3-year randomized placebo-controlled trial.

Unlabelled: A 3-year, randomized, double-blind, placebo-controlled trial evaluated the effect of oral alendronate on the BMD of 64 adult patients with osteogenesis imperfecta. The mean increases in the lumbar spine BMD were 10.1 +/- 9.

Rheumatological manifestations of hepatitis C: incidence in a rheumatology and non-rheumatology setting and the effect of methotrexate and interferon.

Objectives: To evaluate hepatitis C virus (HCV)-positive patients followed in a rheumatology department and to compare them with a similar population of HCV-positive patients who had never seen a rheumatologist, in order to describe the rheumatological symptoms present and the effects of methotrexate and interferon-alpha therapy.

Methods: We performed a retrospective study of clinical, radiological and biological data on 21 rheumatology patients (Group I) presenting symptoms consistent with a chronic inflammatory arthritis with a known HCV infection and compared them with 41 members of an HCV support association (Group II).

Results: Symptoms of myalgia, sicca syndrome, Raynaud's phenomenon or paraesthesias were similarly frequent in the two groups.

Osteoporosis and breast cancer.

Osteoporosis affects one in three women after the menopause and the incidence of osteoporotic fractures increases steadily throughout life. Breast cancer is the most common cancer in women, both before and after the menopause. In younger women, recovery from breast cancer has been achieved using aggressive chemotherapy and radiotherapy that can adversely affect bone tissue or induce premature menopause.

Bone loss after orthotopic liver transplantation.

Purpose: We assessed changes in body composition and bone loss following liver transplantation to determine if bone loss is related to the underlying liver disease or to other factors such as sex, menopause, or graft rejection episodes.

Patients And Methods: Our cross-sectional study component compared bone mass and body composition in 31 patients at 1 year after liver transplantation versus 33 pregraft patients with chronic liver disease. Bone mass was measured by dual energy X-ray absorptiometry (DXA) using anteroposterior views of the total body to determine bone mineral content (BMC), and of the lumbar spine to assess bone mineral density (BMD).

Comparison of bone mass measured by histomorphometry on iliac biopsy and by dual photon absorptiometry of the lumbar spine.

In a prospective study we compared bone mass measured independently by dual photon absorptiometry (DPA) on lumbar spine and by histomorphometry on transiliac biopsy. Measurements were done in 83 patients (23 males, 60 females) with various generalized bone diseases, including spinal osteoporosis, primary hyperparathyroidism and osteopetrosis. Iliac bone density was analyzed on bone biopsy with an automatic image analyzer and expressed as the trabecular bone volume (TBV), the cortical thickness (CT) and the total bone density (TBD) which includes the density of both spongy and cortical bone within the periosteal envelope.