Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Four-and-a-half LIM domain 1 gene (FHL1) has recently been identified as the causative gene for reducing body myopathy (RBM), X-linked scapuloperoneal myopathy (SPM) and X-linked myopathy with postural muscle atrophy (XMPMA). Rigid spine is a common clinical feature of the three diseases. We searched for FHL1 mutations in eighteen patients clinically diagnosed as rigid spine syndrome (RSS). We identified one RSS patient with FHL1 mutation. Reducing bodies were observed in few fibers of the patient's muscle sample. Amount of FHL1 protein was decreased on immunoblotting. In conclusion, FHL1 can be one of the causative genes for RSS.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.nmd.2008.09.012 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Advances in Musculoskeletal Modeling of the Thoraco-Lumbar Spine: A Comprehensive Systematic Review.
Ann Biomed Eng
September 2025
LaBS - Department of Chemistry, Materials and Chemical Engineering "Giulio Natta", Politecnico di Milano, Piazza Leonardo da Vinci 32, 20133, Milano, Italy.
Understanding spine biomechanics is essential for maintaining posture under static and dynamic conditions, relying on a balance of muscular and gravitational forces. Computational musculoskeletal (MSK) models are increasingly being used in biomechanical research as non-invasive alternatives to in vivo and in vitro methods. Two main MSK modeling strategies are multibody (MB) models, which simplify the spine using rigid vertebrae and intervertebral joints to study muscle recruitment, and finite element (FE) models, which provide detailed tissue representation but often rely on oversimplified loading conditions.
View Article and Find Full Text PDFTransient spinal neuropraxia in pediatric patients: analysis of an institutional experience 4 decades after the introduction of spinal cord injury without radiographic abnormality.
J Neurosurg Pediatr
September 2025
1Department of Neurosurgery, University of Utah, Salt Lake City.
Objective: The concept of spinal cord injury without radiographic abnormality (SCIWORA) was introduced in the 1980s. Unfortunately, the nomenclature creates confusion in the modern MRI-based era when applied to pediatric traumatic spinal injuries. The authors investigated the incidence and clinical characteristics of pediatric patients with true imaging-negative traumatic cervical spinal cord injuries (SCIs).
View Article and Find Full Text PDFForaminoplastic inferior pedicle subtraction osteotomy: a novel pedicle subtraction osteotomy technique for adult spinal deformity with radiographic outcomes and complications.
J Neurosurg Spine
September 2025
1Department of Spine and Orthopaedic Surgery, Japanese Red Cross Medical Center, Tokyo, Japan; and.
Objective: The objective of this study was to introduce and evaluate foraminoplastic inferior pedicle subtraction osteotomy (FiPSO), a novel technique that involves downward resection of the pedicle and vertebral body, aimed at addressing rigid lower lumbar kyphosis.
Methods: The clinical records were reviewed of the patients who underwent corrective surgery from January 2012 through December 2021 for adult spinal deformity using a combination of procedures: pedicle subtraction osteotomy (PSO) at the lumbar level and spinopelvic fixation. Inclusion criteria included patients older than 40 years with sagittal imbalance symptoms and significant radiographic findings: sagittal vertical axis (SVA) > 50 mm, pelvic tilt (PT) > 25°, or pelvic incidence (PI) minus lumbar lordosis (LL) > 10°.
Unlabelled: Dual-energy x-ray absorptiometry (DXA)-derived areal bone mineral density (BMD) remains the clinical standard for assessing osteoporosis risk, yet it fails to identify over 75% of individuals who sustain fragility fractures. Direct in vivo mechanical assessment of cortical bone strength may address this diagnostic gap by capturing structural and material properties that govern whole-bone strength but are not reflected by BMD. We conducted a multicenter case-control study with cross-sectional assessment to compare ulna flexural rigidity, a biomechanical property correlated with whole-bone strength (R² ≈ 0.
View Article and Find Full Text PDFThree cases of revision surgery for exacerbated deformity due to long-term neglect after failed corrective fixation of adolescent idiopathic scoliosis.
Spine Deform
September 2025
Department of Spine and Scoliosis Center, Shiga General Hospital, 5-4-30, Moriyama, Shiga, 524-8524, Japan.
Purpose: Implant-related complications can occur after the surgery for adolescent idiopathic scoliosis (AIS) and remain untreated for long periods until they become painful enough for intervention. This can result in a rigid deformity with vertebral fusion and disc degeneration within the scoliotic curve. This report aimed to emphasize the importance of early revision surgery illustrated in three unique cases.
View Article and Find Full Text PDF