Lumbar spinal stenosis (LSS) is a common skeletal system disease that has been partly attributed to genetic variation. However, the correlation between genetic variation and pathological changes in LSS is insufficient, and it is difficult to provide a reference for the early diagnosis and treatment of the disease. We conducted a transcriptome-wide association study (TWAS) of spinal canal stenosis by integrating genome-wide association study summary statistics (including 661 cases and 178,065 controls) derived from Biobank Japan, and pre-computed gene expression weights of skeletal muscle and whole blood implemented in FUSION software. To verify the TWAS results, the candidate genes were furthered compared with messenger RNA (mRNA) expression profiles of LSS to screen for common genes. Finally, Metascape software was used to perform enrichment analysis of the candidate genes and common genes.Aims
Methods
Acute angulation at the thoracolumbar junction
with segmental subluxation of the spine occurring at the level above
an anteriorly hypoplastic vertebra in otherwise normal children
is a rare condition described as infantile developmental thoracolumbar
kyphosis. Three patient series with total of 18 children have been
reported in the literature. We report five children who presented
with thoracolumbar kyphosis and discuss the treatment algorithm. We
reviewed the medical records and spinal imaging at initial clinical
presentation and at minimum two-year follow-up. The mean age at
presentation was eight months (two to 12). All five children had
L2 anterior vertebral body hypoplasia. The kyphosis improved spontaneously
in three children kept under monitoring. In contrast, the deformity
was progressive in two patients who were treated with bracing. The
kyphosis and segmental subluxation corrected at latest follow-up
(mean age 52 months; 48 to 60) in all patients with near complete
reconstitution of the anomalous vertebra. The deformity and radiological
imaging on a young child can cause anxiety to both parents and treating
physicians. Diagnostic workup and treatment algorithm in the management
of infantile developmental thoracolumbar kyphosis is proposed. Observation
is indicated for non-progressive kyphosis and bracing if there is evidence
of kyphosis and segmental subluxation deterioration beyond walking
age. Surgical stabilisation of the spine can be reserved for severe
progressive deformities unresponsive to conservative treatment. Cite this article:
Wrong-level surgery is a unique pitfall in spinal
surgery and is part of the wider field of wrong-site surgery. Wrong-site
surgery affects both patients and surgeons and has received much
media attention. We performed this systematic review to determine
the incidence and prevalence of wrong-level procedures in spinal
surgery and to identify effective prevention strategies. We retrieved
12 studies reporting the incidence or prevalence of wrong-site surgery
and that provided information about prevention strategies. Of these,
ten studies were performed on patients undergoing lumbar spine surgery
and two on patients undergoing lumbar, thoracic or cervical spine procedures.
A higher frequency of wrong-level surgery in lumbar procedures than
in cervical procedures was found. Only one study assessed preventative
strategies for wrong-site surgery, demonstrating that current site-verification protocols
did not prevent about one-third of the cases. The current literature
does not provide a definitive estimate of the occurrence of wrong-site
spinal surgery, and there is no published evidence to support the
effectiveness of site-verification protocols. Further prevention
strategies need to be developed to reduce the risk of wrong-site surgery.
We compared the clinical, radiological and quality-of-life
outcomes between hybrid and total pedicle screw instrumentation
in patients undergoing surgery for neuromuscular scoliosis. Total pedicle screw instrumentation provided shorter operating
times, less blood loss and better correction of the major curve
compared with hybrid constructs in patients undergoing surgery for
neuromuscular scoliosis.