ReviewJournal of clinical medicine2022
Current Aspects on the Pathophysiology of Bone Metabolic Defects during Progression of Scoliosis in Neurofibromatosis Type 1.
Review in Journal of clinical medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
15 citing papers in PubMed, 18 citations in OpenAlex.
- Neurofibromin in bone disease: Mechanisms and therapeutic implications (Review).International journal of molecular medicine · 2026Review
- Sequential stress fractures of the ulna and radius in a patient with neurofibromatosis type 1: A case report.The Journal of international medical research · 2026Article
- Zoledronic acid in the treatment of severe scoliosis associated with neurofibromatosis type 1 (NF1): a case report.Annals of medicine and surgery (2012) · 2026Article
- Distal fusion vertebra selection in neurofibromatosis type 1 scoliosis: integrating CT/MRI-detected atrophic changes reduces long-term mechanical complications.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2026Article
- Surgical treatment for neurofibromatosis type 1-related dystrophic scoliosis in children aged 8 to 11: traditional growing rod or posterior spinal fusion?BMC surgery · 2026Article
- Tips and Pitfalls of Surgical Techniques for Scoliotic Deformities in Neurofibromatosis Type 1.Journal of clinical medicine · 2025Review
- Treatment of giant encephalocele and occipital defect in a child with neurofibromatosis type 1: illustrative case.Journal of neurosurgery. Case lessons · 2025Article
- Burden of disease and unmet needs associated with scoliosis in neurofibromatosis type 1: a systematic literature review.JBMR plus · 2025Article
- Sudden Paraplegia Caused by Vertebral Dislocation Fracture in Neurofibromatosis Type 1.Indian journal of pediatrics · 2025Article
- The Genetic and Biological Basis of Pseudoarthrosis in Fractures: Current Understanding and Future Directions.Diseases (Basel, Switzerland) · 2025Review
- Efficacy of Bisphosphonate in Patients with Neurofibromatosis Type 1.Journal of bone metabolism · 2025Article
- Icariin Promotes Osteogenic Differentiation in a Cell Model with NF1 Gene Knockout by Activating the cAMP/PKA/CREB Pathway.Molecules (Basel, Switzerland) · 2023Article
- Low Bone Mass and Recurrent Fractures in Neurofibromatosis With Concomitant Hemoglobin SC Disease.Cureus · 2023Article
- Ossification of Mandibular Central Giant Cell Granuloma (CGCG) in Neurofibromatosis Type 1 Patients.Cancer diagnosis & prognosisArticle
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurofibromatosis type 1 (NF1), which is the most common phacomatoses, is an autosomal dominant disorder characterized by clinical presentations in various tissues and organs, such as the skin, eyes and nervous and skeletal systems. The musculoskeletal implications of NF1 include a variety of deformities, including scoliosis, kyphoscoliosis, spondylolistheses, congenital bony bowing, pseudarthrosis and bone dysplasia. Scoliosis is the most common skeletal problem, affecting 10-30% of NF1 patients. Although the pathophysiology of spinal deformities has not been elucidated yet, defects in bone metabolism have been implicated in the progression of scoliotic curves. Measurements of Bone Mineral Density (BMD) in the lumbar spine by using dual energy absorptiometry (DXA) and quantitative computer tomography (QCT) have demonstrated a marked reduction in Z-score and osteoporosis. Additionally, serum bone metabolic markers, such as vitamin D, calcium, phosphorus, osteocalcin and alkaline phosphatase, have been found to be abnormal. Intraoperative and histological vertebral analysis confirmed that alterations of the trabecular microarchitecture are associated with inadequate bone turnover, indicating generalized bone metabolic defects. At the molecular level, loss of function of neurofibromin dysregulates Ras and Transforming Growth factor-β1 (TGF-β1) signaling and leads to altered osteoclastic proliferation, osteoblastic activity and collagen production. Correlation between clinical characteristics and molecular pathways may provide targets for novel therapeutic approaches in NF1.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.