Associations between organophosphate esters and bone mineral density in adults in the United States: 2011-2018 NHANES.

Background: Organophosphate esters (OPEs) are used extensively as flame retardants and plasticizers. Laboratory studies have shown that OPEs exhibit osteotoxicity by inhibiting osteoblast differentiation; however, little is known about how OPEs exposure is associated with bone health in humans.

Objectives: We conducted a cross-sectional study to investigate the association between OPEs exposure and bone mineral density (BMD) in adults in the United States using data from the 2011-2018 National Health and Nutrition Examination Survey (NHANES).

Identifying therapeutic biomarkers of zoledronic acid by metabolomics.

Zoledronic acid (ZOL) is a potent antiresorptive agent that increases bone mineral density (BMD) and reduces fracture risk in postmenopausal osteoporosis (PMOP). The anti-osteoporotic effect of ZOL is determined by annual BMD measurement. In most cases, bone turnover markers function as early indicators of therapeutic response, but they fail to reflect long-term effects.

Genetic Polymorphisms of Nuclear Factor-κB Family Affect the Bone Mineral Density Response to Zoledronic Acid Therapy in Postmenopausal Chinese Women.

The aim of this study was to explore the allelic association between genetic polymorphisms of the NF-κB pathway and the variance of clinical effects of zoledronic in postmenopausal Chinese women with osteoporosis. In the study, 110 Chinese postmenopausal women with osteoporosis were recruited. Every patient received zoledronic once a year.

A phase III randomized, double-blind, placebo-controlled trial of the denosumab biosimilar QL1206 in postmenopausal Chinese women with osteoporosis and high fracture risk.

The current study evaluated the efficacy and safety of a denosumab biosimilar, QL1206 (60 mg), compared to placebo in postmenopausal Chinese women with osteoporosis and high fracture risk. At 31 study centers in China, a total of 455 postmenopausal women with osteoporosis and high fracture risk were randomly assigned to receive QL1206 (60 mg subcutaneously every 6 months) or placebo. From baseline to the 12-month follow-up, the participants who received QL1206 showed significantly increased bone mineral density (BMD) values (mean difference and 95% CI) in the lumbar spine: 4.

Serum Periostin Level and Genetic Polymorphisms Are Associated with Vertebral Fracture in Chinese Postmenopausal Women.

Purposes: In order to investigate the association between serum periostin levels and the variation of its encoding gene and the prevalence of vertebral fractures and bone mineral density (BMD) in Chinese postmenopausal women, an association study was performed.

Materials And Methods: 385 postmenopausal women were recruited. For participants without a history of vertebral fracture, lateral X-rays of the spine covering the fourth thoracic spine to the fifth lumbar spine were performed to detect any asymptomatic vertebral fractures.

Clinical characteristics and identification of a novel TGFB1 variant in three unrelated Chinese families with Camurati-Engelmann disease.

Background: To investigate the clinical characteristics and molecular diagnosis of Camurati-Engelmann disease (CAEND) in Chinese individuals.

Methods: We recruited six patients aged 14 to 45 years in three unrelated families with CAEND, including five females and one male. Clinical manifestations, biochemical tests, and radiographic examinations were analyzed.

Gene Polymorphisms Are Associated With Bone and Obesity Phenotypes in Chinese Female Nuclear Families.

Objective: The current study was conducted to determine whether peak bone mineral density (BMD) and obesity phenotypes are associated with certain gene polymorphisms found in Chinese nuclear families with female children.

Methods: A total of 22 single nucleotide polymorphisms (SNPs) located in and around the gene were identified in 1,300 subjects who were members of 390 Chinese nuclear families with female children. Then, BMD readings of the femoral neck, total hip, and lumbar spine as well as measurements of the total lean mass (TLM), total fat mass (TFM), and trunk fat mass were obtained dual-energy X-ray absorptiometry.

Genotypic and Phenotypic Characteristics of 29 Patients With Rare Types of Osteogenesis Imperfecta: Average 5 Years of Follow-Up.

Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility and abnormal connective tissue. Ninety percent of OI patients are caused by two mutations of and , and more investigation was needed to better understand the rare types of OI. We followed up 29 patients with rare types of OI for an average of 5.

Follow-Up of Adefovir Dipivoxil Induced Osteomalacia: Clinical Characteristics and Genetic Predictors.

Adefovir dipivoxil (ADV) is widely used for chronic hepatitis B therapy in China. To explore the clinical features and prognosis of ADV-induced osteomalacia and to analyze the association between osteomalacia and genetic variants in 51 drug transporters genes. Clinical and follow-up data of the ADV-treated patients were collected.

Novel mutations in BMP1 result in a patient with autosomal recessive osteogenesis imperfecta.

Background: Osteogenesis imperfecta (OI) is a rare heritable bone disorder that is characterised by increased bone fragility and recurrent fractures. To date, only 19 OI patients have been reported, as caused by BMP1 gene mutations, worldwide. Here, we report a patient with a BMP1 gene mutation to explore the relationship between genotype and phenotype, and the patient was followed up for 4 years.

Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta.

Introduction: Osteogenesis imperfecta (OI) is a well-known heritable disorder of connective tissue characterized by skeletal fragility and low bone mass. Nearly 90% of patients with OI have disease variants in COL1A1 and COL1A2 that encode for the α1 and α2 chains of type I collagen.

Materials And Methods: A retrospective analysis of 185 probands who were diagnosed with OI in Shanghai Jiao Tong University Affiliated Sixth People's Hospital from March 2005 to December 2019 was performed.

Association between LGR4 polymorphisms and peak bone mineral density and body composition.

Introduction: Leucine-rich repeat-containing G protein-coupled receptor 4 (LGR4) could affect differentiation of osteoblasts and bone mass through potentiating Wnt/β-catenin signaling. LGR4 is also relevant to glycolipid metabolism. The present study aims to explore the relationship between genetic variations in LGR4 gene and peak bone mineral density (peak BMD) and body composition phenotypes in Chinese nuclear families.

Associations of Serum Cathepsin K and Polymorphisms in Gene With Bone Mineral Density and Bone Metabolism Markers in Postmenopausal Chinese Women.

Cathepsin K plays an important role in bone resorption. The reports of the association of serum cathepsin K with bone mineral density (BMD) and bone turnover markers are conflicting and the role of serum cathepsin K as a bone turnover marker is unclear. The aims of the study were as follows: (1) to investigate the association of serum cathepsin K with BMD and markers of bone turnover and (2) to evaluate the correlations of single-nucleotide polymorphisms (SNPs) within the gene with serum cathepsin K, BMD, and markers of bone metabolism in postmenopausal Chinese women.

Prevalence of osteoporotic vertebral fracture among community-dwelling elderly in Shanghai.

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Expanding the Clinical Spectrum of Osteogenesis Imperfecta Type V: 13 Additional Patients and Review.

Osteogenesis imperfecta (OI) is an inherited connective tissue disorder characterized by bone fragility and is characterized by clinical and genetic heterogeneity. Previous studies showed that the same mutation (c.-14C> T) of the gene is responsible for autosomal dominant OI type V.

Novel CLCN7 mutations cause autosomal dominant osteopetrosis type II and intermediate autosomal recessive osteopetrosis.

Osteopetrosis refers to a group of rare genetic bone diseases that are clinically characterized by increased bone mass and fragility. The principal pathogenic defect in patients with chloride channel 7 (CLCN7) gene‑dependent osteopetrosis is reduced osteoclast activity, which leads to decreased bone resorption. Mutations in the CLCN7 gene result in autosomal dominant osteopetrosis type II (ADO‑II), autosomal recessive osteopetrosis (ARO) and intermediate ARO (IARO).

NOVEL MUTATIONS IN THE WNT1, TMEM38B, P4HB, AND PLS3 GENES IN FOUR UNRELATED CHINESE FAMILIES WITH OSTEOGENESIS IMPERFECTA.

Objective: Osteogenesis imperfecta (OI) is a group of heritable fragile bone diseases, and the majority are caused by pathogenic variants in the COL1A1 and COL1A2 genes. We sought to identify the genetic causes and phenotypes of OI in Chinese patients without COL1A1 or COL1A2 mutations.

Methods: Twenty-three patients who were diagnosed with sporadic OI but did not carry COL1A1/2 mutations were recruited, and their genomic DNA was analyzed using targeted next-generation sequencing of rare OI-related genes.

Genetic variants in the PLS3 gene are associated with osteoporotic fractures in postmenopausal Chinese women.

Plastin 3 (PLS3) has been identified as a candidate gene for bone fragility in the Rotterdam study (RS) population. So far, however, whether PLS3 polymorphisms are genetic risk factors for osteoporosis in Asian population remains unclear. In order to investigate the association between genetic variants in PLS3 and the risk of fragility fracture and/or bone mineral density (BMD) in postmenopausal Chinese women, we conducted a case-control association study.

Identification of a novel mutation of the NTRK1 gene in patients with congenital insensitivity to pain with anhidrosis (CIPA).

Introduction: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder resulting from NTRK1 mutation. Over 105 NTRK1 mutations have been reported in CIPA patients worldwide. The causative NTRK1 mutations lead to loss of function of the TrkA protein, an important ligand for nerve growth factor (NGF), and therefore induce various clinical phenotypes associated with neuron maturation defects.

Whole-Exome Sequencing Identifies Novel Recurrent Somatic Mutations in Sporadic Parathyroid Adenomas.

Primary hyperparathyroidism is commonly caused by excess production of parathyroid hormone from sporadic parathyroid adenomas. However, the genetic architecture of sporadic primary hyperparathyroidism remains largely uncharacterized, especially in the Chinese population. To identify genetic abnormalities that may be involved in the etiology of sporadic parathyroid adenomas and to determine the mutation frequency of previously identified genes in the Chinese population, we performed whole-exome sequencing of 22 blood-tumor pairs from sporadic parathyroid adenomas.

Calcifediol (25-hydroxyvitamin D) improvement and calcium-phosphate metabolism of alendronate sodium/vitamin D combination in Chinese women with postmenopausal osteoporosis: a post hoc efficacy analysis and safety reappraisal.

Background: Vitamin D (VD) insufficiency or deficiency is a frequent comorbidity in Chinese women with postmenopausal osteoporosis (PMO). The present study aimed to investigate 25-hydroxyvitamin D [25(OH) D] improvement and calcium-phosphate metabolism in Chinese PMO patients treated with 70 mg of alendronate sodium and 5600 IU of vitamin D (ALN/D5600).

Methods: Chinese PMO women (n = 219) were treated with 12-month ALN/D5600 (n = 111) or calcitriol (n = 108).