A major QTL controls susceptibility to spinal curvature in the curveback guppy

<p>Abstract</p> <p>Background</p> <p>Understanding the genetic basis of heritable spinal curvature would benefit medicine and aquaculture. Heritable spinal curvature among otherwise healthy children (<it>i.e. </it>Idiopathic Scoliosis and Scheuermann kyphosis) accounts for more than 80% of all spinal curvatures and imposes a substantial healthcare cost through bracing, hospitalizations, surgery, and chronic back pain. In aquaculture, the prevalence of heritable spinal curvature can reach as high as 80% of a stock, and thus imposes a substantial cost through production losses. The genetic basis of heritable spinal curvature is unknown and so the objective of this work is to identify quantitative trait loci (QTL) affecting heritable spinal curvature in the <it>curveback </it>guppy. Prior work with <it>curveback </it>has demonstrated phenotypic parallels to human idiopathic-type scoliosis, suggesting shared biological pathways for the deformity.</p> <p>Results</p> <p>A major effect QTL that acts in a recessive manner and accounts for curve susceptibility was detected in an initial mapping cross on LG 14. In a second cross, we confirmed this susceptibility locus and fine mapped it to a 5 cM region that explains 82.6% of the total phenotypic variance.</p> <p>Conclusions</p> <p>We identify a major QTL that controls susceptibility to curvature. This locus contains over 100 genes, including MTNR1B, a candidate gene for human idiopathic scoliosis. The identification of genes associated with heritable spinal curvature in the <it>curveback </it>guppy has the potential to elucidate the biological basis of spinal curvature among humans and economically important teleosts.</p

A Major QTL Controls Susceptibility to Spinal Curvature in the Curveback Guppy

Background: Understanding the genetic basis of heritable spinal curvature would benefit medicine andaquaculture. Heritable spinal curvature among otherwise healthy children (i.e. Idiopathic Scoliosis and Scheuermannkyphosis) accounts for more than 80% of all spinal curvatures and imposes a substantial healthcare cost throughbracing, hospitalizations, surgery, and chronic back pain. In aquaculture, the prevalence of heritable spinal curvaturecan reach as high as 80% of a stock, and thus imposes a substantial cost through production losses. The geneticbasis of heritable spinal curvature is unknown and so the objective of this work is to identify quantitative trait loci(QTL) affecting heritable spinal curvature in the curveback guppy. Prior work with curveback has demonstratedphenotypic parallels to human idiopathic-type scoliosis, suggesting shared biological pathways for the deformity.Results: A major effect QTL that acts in a recessive manner and accounts for curve susceptibility was detected inan initial mapping cross on LG 14. In a second cross, we confirmed this susceptibility locus and fine mapped it toa 5 cM region that explains 82.6% of the total phenotypic variance.Conclusions: We identify a major QTL that controls susceptibility to curvature. This locus contains over 100 genes,including MTNR1B, a candidate gene for human idiopathic scoliosis. The identification of genes associated withheritable spinal curvature in the curveback guppy has the potential to elucidate the biological basis of spinalcurvature among humans and economically important teleosts

Computer-assisted radiographic calculation of spinal curvature in brachycephalic "screw-Tailed" dog breeds with congenital thoracic vertebral malformations: reliability and clinical evaluation

The objectives of this study were: To investigate computer-assisted digital radiographic measurement of Cobb angles in dogs with congenital thoracic vertebral malformations, to determine its intra- and inter-observer reliability and its association with the presence of neurological deficits. Medical records were reviewed (2009–2013) to identify brachycephalic screw-tailed dog breeds with radiographic studies of the thoracic vertebral column and with at least one vertebral malformation present. Twenty-eight dogs were included in the study. The end vertebrae were defined as the cranial end plate of the vertebra cranial to the malformed vertebra and the caudal end plate of the vertebra caudal to the malformed vertebra. Three observers performed the measurements twice. Intraclass correlation coefficients were used to calculate the intra- and inter-observer reliabilities. The intraclass correlation coefficient was excellent for all intra- and inter-observer measurements using this method. There was a significant difference in the kyphotic Cobb angle between dogs with and without associated neurological deficits. The majority of dogs with neurological deficits had a kyphotic Cobb angle higher than 35°. No significant difference in the scoliotic Cobb angle was observed. We concluded that the computer assisted digital radiographic measurement of the Cobb angle for kyphosis and scoliosis is a valid, reproducible and reliable method to quantify the degree of spinal curvature in brachycephalic screw-tailed dog breeds with congenital thoracic vertebral malformations

The Reliability of Standing Sagittal Measurements of Spinal Curvature and Range of Motion in Older Women With and Without Hyperkyphosis Using a Skin-Surface Device.

OBJECTIVE:The purpose of this study was to investigate the intrarater reliability of a skin-surface instrument (Spinal Mouse, Idiag, Voletswil, Switzerland) in measuring standing sagittal curvature and global mobility of the spine in older women with and without hyperkyphosis. METHODS:Measurements were made in 19 women with hyperkyphosis (thoracic kyphosis angle ≥50°), mean age 67 ± 5 years, and 14 women without hyperkyphosis (thoracic kyphosis angle &lt;50°), mean age 63 ± 6 years. Sagittal thoracic and lumbar curvature and mobility of the spine were assessed with the Spinal Mouse during neutral standing, full spinal flexion, and full spinal extension. Tests were performed by the same examiner on 2 days with a 72-hour interval. The intrarater reliability of the measurements was analyzed using the intraclass correlation coefficient, standard error of measurement and minimal detectable change. RESULTS:Intraclass correlation coefficients ranged from 0.89 to 0.99 in both groups. The standard errors of measurement ranged from 1.02° to 2.06° in the hyperkyphosis group and from 1.15° to 2.22° in the normal group. The minimal detectable change ranged from 2.85° to 5.73° in the hyperkyphosis group and from 3.20° to 6.17° in the normal group. CONCLUSIONS:Our results indicated that the Spinal Mouse has excellent intrarater reliability for the measurement of sagittal thoracic and lumbar curvature and mobility of the spine in older women

BACK MUSCLE FATIGUE MIGHT LEAD TO ALTERNATED SPINE LOADING IN RECREATIONAL ERGOMETER ROWING

The purpose of this study was to investigate fatigue related changes in spinal kinematics and muscle activity of back muscles during a 2000 m all-out performance on a rowing ergometer. Kinematic data of the trunk and EMG data of eight back muscles were recorded for ten subjects. A novel approach analyzing the spinal curvature was utilized identifying a significant increase (p \u3c 0.05) for the thoracic spine. For the M. trapezius a significantly decreased mean frequency (p \u3c 0.05) was found. The lumbar spine and the M. erector spinae showed no significant changes (p \u3e 0.05). These results contrast with findings for elite rowers which might be explained by a different rowing technique. Increased spinal curvature is a factor for injury risk. Thus, rowing programs should include monitoring of spinal curvature and strengthening of the stabilizing muscles

Automated Estimation of the Spinal Curvature via Spine Centerline Extraction with Ensembles of Cascaded Neural Networks

Scoliosis is a condition defined by an abnormal spinal curvature. For diagnosis and treatment planning of scoliosis, spinal curvature can be estimated using Cobb angles. We propose an automated method for the estimation of Cobb angles from X-ray scans. First, the centerline of the spine was segmented using a cascade of two convolutional neural networks. After smoothing the centerline, Cobb angles were automatically estimated using the derivative of the centerline. We evaluated the results using the mean absolute error and the average symmetric mean absolute percentage error between the manual assessment by experts and the automated predictions. For optimization, we used 609 X-ray scans from the London Health Sciences Center, and for evaluation, we participated in the international challenge "Accurate Automated Spinal Curvature Estimation, MICCAI 2019" (100 scans). On the challenge's test set, we obtained an average symmetric mean absolute percentage error of 22.96

Evaluation of the influence of kyphosis and scoliosis on intervertebral disc extrusion in French bulldogs

Although thoracic vertebral malformations with kyphosis and scoliosis are often considered incidental findings on diagnostic imaging studies of screw-tailed brachycephalic breeds, they have been suggested to interfere with spinal biomechanics and intervertebral disc degeneration. It is however unknown if an abnormal spinal curvature also predisposes dogs to develop clinically relevant intervertebral disc herniations. The aim of this study was to evaluate if the occurrence of thoracic vertebral malformations, kyphosis or scoliosis would be associated with a higher prevalence of cervical or thoracolumbar intervertebral disc extrusion in French bulldogs

Electromagnetic measurement of spinal curvature

In this paper, we describe an original mathematical technique for calculating the position and orientation of an electromagnetic coil from a minimum of four collinear magnetic field measurements. This problem arose in the development of a system for evaluating the efficacy of inflatable back rafts designed to mitigate complications that arise from the immobilisation of patients with suspected spinal injuries on spinal boards during transport to hospital. Electromagnetic markers are attached to points of interest on the back of an immobilised test subject. Spinal curvature is then measured by passing a magnetometer underneath the board

Hypogravity reduces trunk admittance and lumbar muscle activation in response to external perturbations

Reduced paraspinal muscle size and flattening of spinal curvatures have been documented after spaceflight. Assessment of trunk adaptations to hypogravity can contribute to develop specific countermeasures. In this study, parabolic flights were used to investigate spinal curvature and muscle responses to hypogravity. Data from five trials at 0.25g, 0.50g and 0.75g were recorded from six participants, positioned in a kneeling-seated position. During the first two trials, participants maintained a normal, upright posture. In the last three trials, small-amplitude perturbations were delivered in the anterior direction at the T10 level. Spinal curvature was estimated using motion capture cameras. Trunk displacement and contact force between the actuator and participant were recorded. Muscle activity responses were collected using intramuscular electromyography (iEMG) of the deep and superficial lumbar multifidus, iliocostalis lumborum, longissimus thoracis, quadratus lumborum, transversus abdominis, obliquus internus and obliquus externus muscles. The root mean square iEMG and the average spinal angles were calculated. Trunk admittance and muscle responses to perturbations were calculated as closed-loop frequency response functions. Compared with 0.75g, 0.25g resulted in: lower activation of the longissimus thoracis (P=0.002); lower responses of the superficial multifidus at low frequencies (P=0.043); lower responses of the superficial multifidus (P=0.029) and iliocostalis lumborum (P=0.043); lower trunk admittance (P=0.037) at intermediate frequencies; and stronger responses of the transversus abdominis at higher frequencies (p=0.032). These findings indicate that exposure to hypogravity reduces trunk admittance, partially compensated by weaker stabilizing contributions of the paraspinal muscles and coinciding with an apparent increase of the deep abdominal muscle activity

Modeling the effect of variation in sagittal curvature on the force required to produce a follower load in the lumbar spine

Peer reviewedPreprin