Publications by authors named "Wei-bo Xia"
Article Synopsis
- * A total of 271,981 vertebral fractures were recorded, with the incidence increasing from approximately 85 per 100,000 person-years in 2013 to 152 per 100,000 in 2017, showing a significant upward trend.
- * Medical costs associated with these fractures skyrocketed from about $92.74 million in 2013 to $505.3 million in 2017, highlighting the urgent need for improved osteoporosis management strategies.
Article Synopsis
- Plastin 3 (PLS3) is a protein crucial for bone health, and mutations in this protein are linked to a rare form of early-onset osteoporosis, though the precise mechanisms are still unclear.* -
- Researchers created a rat model with a specific PLS3 mutation, which exhibited symptoms of osteoporosis, including thinner bone structure and reduced strength compared to normal rats.* -
- Treatment with drugs alendronate and teriparatide showed promising results in enhancing bone mass, structure, and strength in these rats, suggesting potential therapies for individuals with early-onset osteoporosis due to PLS3 mutations.*
Article Synopsis
- Osteoporosis has a more significant negative impact on health-related quality of life (HRQoL) in men than women, yet less research has been done on its effects in men.
- A study involving 200 men (100 with primary osteoporosis or osteopenia and 100 healthy controls) showed that those with osteoporosis experienced lower HRQoL, particularly in physical health domains, with severe osteoporosis correlating to the lowest scores.
- Treatment with bisphosphonates (like alendronate or zoledronic acid) significantly improved HRQoL in men with newly diagnosed osteoporosis, indicating its benefits for their overall well-being.
Article Synopsis
- Progressive pseudorheumatoid dysplasia (PPRD) is a rare genetic disorder mostly found in the Chinese population, and this study aimed to analyze its genetic and clinical characteristics in these patients.
- Researchers performed genetic tests on 105 individuals, identifying 33 variants associated with PPRD, with many being unique to Chinese patients and specific phenotypic features that correlate with the variants.
- Results showed that certain genetic variants, particularly the hotspot variant c.624dupA, were linked to more severe disease manifestations, including later onset and increased joint involvement, especially affecting elbow and shoulder joints.
Article Synopsis
- Tumor-induced osteomalacia (TIO) is a rare condition linked to mesenchymal tumors that produce fibroblast growth factor 23 (FGF23), leading to symptoms like bone pain, muscle weakness, and fractures, along with specific biochemical abnormalities.
- Limited awareness of TIO in the medical field often results in delayed diagnosis and negative outcomes, prompting the need for clearer guidance on its recognition and management.
- A global guidance document has been developed, outlining diagnostic recommendations, necessary laboratory tests, and treatment options such as tumor resection or phosphate supplementation, aiming to standardize patient care and improve outcomes for those affected by TIO.
Pseudohypoparathyroidism during pregnancy and the postpartum period: A case series of five patients.
Front Endocrinol (Lausanne)
December 2022
Article Synopsis
- Pseudohypoparathyroidism (PHP) is a rare condition, and this study looked at how it affects pregnant patients by analyzing serum calcium and parathyroid hormone (PTH) levels during and after pregnancy.* -
- Five PHP patients with six pregnancies were monitored, revealing inconsistent changes in calcium metabolism, especially during pregnancy, with most patients needing calcium and vitamin D supplementation.* -
- Despite the variations in calcium and PTH levels throughout pregnancy and lactation, the outcomes were generally positive for both mothers and infants, with serum PTH levels showing potential to predict calcium metabolism changes.*
Article Synopsis
- Osteoblasts, known for bone formation, also secrete osteocalcin (OC), which affects metabolism, prompting research on how OC levels relate to glucose and lipid metabolism in children with osteogenesis imperfecta (OI).
- The study involved 225 children with OI and 80 healthy controls, measuring various metabolic and physical parameters, including serum levels of OC and muscle strength through tests like grip strength and timed-up-and-go (TUG).
- Results showed that OI patients had higher BMI and metabolic issues, with lower OC levels correlating negatively with glucose and insulin indicators, while OC was positively associated with muscle strength and lean mass, suggesting its role in regulating metabolism in these children.
Article Synopsis
- - Zoledronic acid (ZOL), used to treat osteoporosis, showed that the generic version Yigu® is clinically as effective as the original Aclasta® in Chinese postmenopausal women.
- - The study involved 458 women, comparing the bone mineral density changes after 12 months of treatment between the two ZOL formulations, revealing no significant differences in effectiveness.
- - This evaluation supports the use of Yigu® in clinical settings, having proven its safety and efficacy comparable to Aclasta® for treating osteoporosis.
Article Synopsis
- Hyperplastic callus (HPC) is a key feature in diagnosing osteogenesis imperfecta (OI) type V, which presents diagnostic and treatment challenges.
- A study of 21 patients with OI type V confirmed the presence of HPC in over half of them, primarily affecting the femur, often developing without fractures.
- Bisphosphonates showed no significant effect on HPC, highlighting the need for further research on diagnosis through IFITM5 mutation detection and exploring effective treatment options for HPC in OI type V patients.
Article Synopsis
- Osteoporosis in men is often overlooked, and this study investigated how bisphosphonates (BPs) affect bone mineral density (BMD) and bone turnover in osteoporotic men with varying testosterone levels.
- The study included 136 men, divided into two groups based on testosterone levels, and both groups showed significant increases in lumbar and hip BMD after 2 years of BP treatment, regardless of their testosterone status.
- The findings suggest that testosterone positively affects BMD in men with low levels, but BPs effectively improve BMD and reduce bone resorption in all osteoporotic men.
Article Synopsis
- Hypoparathyroidism (hypo-PT) is a rare condition, and research on how it affects pregnancy and lactation is limited, leading to a study with 19 patients and 25 pregnancies in China.
- Results showed varying effects during pregnancy: 26.1% of pregnancies improved, 17.4% worsened, and 13% remained stable, with a 30.4% rate of adverse outcomes like preterm delivery and miscarriage.
- During lactation, calcium levels in the body increased significantly compared to pregnancy, and 41.7% of women experienced hypercalcemia shortly after delivery, indicating the need for careful monitoring and potential adjustment of medication.
Article Synopsis
- Autoimmune polyendocrine syndrome type 1 (APS1) is a rare hereditary condition linked to mutations in the AIRE gene, affecting both endocrine and non-endocrine organs, and this study focuses on Chinese patients' characteristics.
- The study included 13 patients from 12 families, revealing common symptoms like hypoparathyroidism, chronic candidiasis, and Addison's disease, with many patients expressing multiple symptoms and some having other rare conditions.
- Researchers identified seven unique AIRE mutations in the patients, including four new ones, contributing to a deeper understanding of APS1’s genetic factors and broader clinical implications.
Article Synopsis
- Duchenne muscular dystrophy (DMD) is a severe neuromuscular disease that increases the risk of osteoporosis and fractures, prompting a study on bisphosphonates, which are medications that help strengthen bones.
- The study involved 52 children with DMD who were treated with either zoledronic acid (ZOL), alendronate (ALN), or no treatment for two years, while also taking calcium and vitamin D.
- Results showed both ZOL and ALN significantly improved bone mineral density and reduced markers of bone resorption compared to the control group, indicating their effectiveness in protecting bones in children with DMD.
Article Synopsis
- Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare genetic autoimmune disease defined by symptoms like chronic mucocutaneous candidiasis, adrenal insufficiency, and hypoparathyroidism.
- A study on a 32-year-old Chinese woman with non-classical APS-1 identified specific genetic variants through specialized DNA sequencing techniques and linked her clinical symptoms to hormonal imbalances.
- Treatment involving calcium and hormone replacements led to significant improvements in the patient's health, and the findings contribute new insights into the genetics and variations of APS-1.
Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.
Mol Genet Genomic Med
March 2020
Article Synopsis
- Spondyloepiphyseal dysplasia congenita (SEDC) is a rare inherited disorder marked by short stature, abnormal bone development, and specific skeletal abnormalities, studied in two unrelated Chinese families.
- * Researchers used targeted next-generation sequencing to identify disease-associated genetic variants, confirming their findings with Sanger sequencing, and analyzed various clinical and radiographic features.
- * Two novel missense variants in the COL2A1 gene were found, which affect collagen formation and contribute to the symptoms of SEDC, broadening the understanding of this rare condition.
Ring sign: an imaging sign for osteochondromyxoma in Carney complex.
Quant Imaging Med Surg
December 2019
Article Synopsis
- - The study focuses on the "ring sign" and its effectiveness in diagnosing osteochondromyxoma in patients with Carney complex (CNC).
- - Three patients were evaluated using various imaging techniques (radiographs, CT, MRI) to identify the ring sign, which appeared in all cases with different patterns.
- - The findings suggest that the ring sign is a specific indicator that can assist in diagnosing osteochondromyxoma in CNC patients.
Article Synopsis
- Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disease linked to mutations in the HPGD and SLCO2A1 genes, with gastrointestinal (GI) issues occurring even less frequently and resembling other autoimmune bowel conditions.
- A study analyzed clinical and genetic data from Chinese PHO patients, comparing those with GI complications to those without, revealing significant differences in symptoms and anemia rates.
- Two male patients with PHO and GI involvement exhibited severe symptoms unresponsive to treatment, with findings of chronic inflammation similar to conditions like cryptogenic multifocal ulcerous stenosing enteritis, and 17.2% of PHO patients reviewed had GI issues.
Article Synopsis
- Primary hypertrophic osteoarthropathy (PHO) is a rare disease linked to genetic mutations that lead to increased levels of prostaglandin E2 (PGE2), which affects joints, bones, and skin.
- A study involving patients treated with the COX-2 inhibitor etoricoxib showed significant improvements in symptoms like joint swelling and pachydermia, with most patients experiencing relief.
- The treatment led to a substantial decrease in PGE2 levels without severe side effects; however, responses varied between the different genetic subtypes of PHO.
Article Synopsis
- Vertebral compression fractures (VCFs) are a serious issue in children with osteogenesis imperfecta (OI), and this study focuses on their treatment using zoledronic acid (ZOL).
- A total of 32 OI children with VCF and 10 without VCF were treated with ZOL for 2 years, with significant improvements in vertebral shape metrics observed after treatment.
- Low lumbar spine bone mineral density (LS-BMD) was identified as a risk factor for VCF, and increases in LS-BMD were linked to better vertebral shape outcomes in OI children receiving ZOL therapy.
Article Synopsis
- Osteogenesis imperfecta (OI) is a genetic bone disorder primarily caused by mutations in the COL1A1 gene, which affects collagen production; this study focused on the mutation spectrum and its impact on patient symptoms in a large group of Chinese individuals with OI.
- Researchers analyzed 161 OI patients using next-generation and Sanger sequencing to identify various mutations and developed a scoring system to evaluate the clinical severity and genotype-phenotype relationship.
- Findings revealed that different mutation types impacted patients differently, with qualitative mutations leading to more severe phenotypes, indicated by lower alkaline phosphatase levels and higher clinical severity scores, as well as specific clinical features such as short stature and dentinogenesis imperfecta only when certain genetic factors were
Article Synopsis
- Osteogenesis imperfecta (OI) is a rare genetic disorder leading to brittle bones, with OI type XIII linked to mutations in the BMP1 gene, particularly uncommon among autosomal recessive cases.
- A Chinese family was studied to identify specific mutations using next-generation and Sanger sequencing, revealing novel mutations that affect bone structure despite high mineral density.
- Treatment with alendronate improved bone density but raised questions about its effectiveness in reducing fractures for this unique OI type.
Article Synopsis
- The study investigates how baseline and treatment characteristics, like age and BMI, can predict changes in bone mineral density (BMD) in postmenopausal women with osteoporosis after 1-2 years of treatment.
- In a post hoc analysis of a clinical trial, researchers looked at the effects of two treatments (alendronate with vitamin D and calcitriol) on lumbar spine BMD over 12 months in Chinese women.
- Results showed that factors like age, dietary calcium, and body mass index (BMI) were associated with BMD changes, indicating that different characteristics may matter for different treatments, which requires further research for confirmation.