Background:Acute low back pain is a common cause for presentation to the emergency department (ED). Since benign etiologies account for 95% of cases, red flags are used to identify sinister causes that require prompt management.Objectives:We assessed the effectiveness of red flag signs used in the ED to identify spinal cord and cauda equine compression.Patients and Methods:It was a retrospective cohort study of 206 patients with acute back pain admitted from the ED. The presence or absence of the red flag symptoms was assessed against evidence of spinal cord or cauda equina compression on magnetic resonance imaging (MRI).Results:Overall, 32 (15.5%) patients had compression on MRI. Profound lower limb neurologic examination did not demonstrate a statistically significant association with this finding. The likelihood ratio (LR) for bowel and bladder dysfunction (sensitivity of 0.65 and specificity of 0.73) was 2.45. Saddle sensory disturbance (sensitivity of 0.27 and specificity of 0.87) had a LR of 2.11. When both symptoms were taken together (sensitivity of 0.27 and specificity of 0.92), they gave a LR of 3.46.Conclusions:The predictive value of the two statistically significant red flags only marginally raises the clinical suspicion of spinal cord or cauda equina compression. Effective risk stratification of patients presenting to the ED with acute back pain is crucial; however, this study did not support the use of these red flags in their current form.
Distal hereditary motor neuronopathy type seven (dHMN-VII) is an autosomal dominant condition characterized by distal muscular atrophy associated with unilateral or bilateral vocal cord paralysis. We previously mapped the dHMN-VII locus to chromosome 2q14 using a genome-wide linkage scan in a single large pedigree. Here we have performed more detailed microsatellite saturation analysis and also evaluated two new affected individuals not described in the original study. We have significantly refined the extent of the disease locus and show that two distinct regions of chromosome 2q14.2, comprising 9.2 Mb and 4.3 Mb separated by an unusual double recombination event, cosegregate with the disease phenotype. The proximal linked region is now defined by markers D2S3038-D2S160, and the distal region by D2S2970-D2S2969. Sequencing of 15 candidate genes within the critical interval has not yet revealed any pathogenic mutations. Inspection of genomic databases indicates that this refinement of the critical interval by 8.4 Mb reduces the number of candidate genes from approximately 400 to approximately 100.
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