The Journal of Bone & Joint Surgery

The Journal of Bone & Joint Surgery, Volume 86, Issue 8

Scientific Articles | August 01, 2004

Intraspinal Anomalies Associated with Isolated Congenital Hemivertebra: The Role of Routine Magnetic Resonance Imaging

Philip J. BelmontJr., MD¹; Timothy R. Kuklo, MD¹; Kenneth F. Taylor, MD¹; Brett A. Freedman, MD¹; John R. Prahinski, MD¹; Richard W. Kruse, DO²

¹ Orthopaedic Surgery Service, Walter Reed Army Medical Center, 6900 Georgia Avenue, Washington, DC 20307. E-mail address for T.R. Kuklo: timothy.kuklo@na.amedd.army.mil
² Department of Orthopaedic Surgery, duPont Hospital for Children, Alfred I. duPont Institute, 1600 Rockland Road, Wilmington, DE 19803

View Disclosures and Other Information

The authors did not receive grants or outside funding in support of their research or preparation of this manuscript. They did not receive payments or other benefits or a commitment or agreement to provide such benefits from a commercial entity. No commercial entity paid or directed, or agreed to pay or direct, any benefits to any research fund, foundation, educational institution, or other charitable or nonprofit organization with which the authors are affiliated or associated.

The opinions or assertions contained herein are the private views of the authors and are not to be construed as official or as reflecting the views of the United States Army or the Department of Defense. All authors are employees of the United States government. This work was prepared as part of their official duties and, as such, there is no copyright to be transferred.

Investigation performed at Alfred I. duPont Institute, Wilmington, Delaware, and Walter Reed Army Medical Center, Washington, DC

The Journal of Bone and Joint Surgery, Incorporated

J Bone Joint Surg Am, 2004 Aug 01;86(8):1704-1710

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Abstract

Background: Previous studies have demonstrated high rates of intraspinal anomalies in patients with congenital scoliosis; however, various authors have not considered the presence of an isolated hemivertebra to be sufficient reason for further evaluation with magnetic resonance imaging. Consequently, the rate of magnetic resonance imaging-detected intraspinal anomalies and subsequent neurosurgical intervention in patients with a single hemivertebra is unknown. Therefore, we studied all patients with a hemivertebra, after eliminating patients with a myelomeningocele, to compare those who had a single hemivertebra with those who had a complex hemivertebral pattern.

Methods: A retrospective review of the history, physical examination findings, and magnetic resonance imaging findings for patients who had presented with at least one hemivertebra, excluding those who had a myelomeningocele, was conducted to identify the prevalence of intraspinal anomalies as seen on magnetic resonance imaging and the rate of subsequent neurosurgical intervention. Additionally, the diagnostic value of the history and the physical examination in predicting the presence of intraspinal anomalies was determined.

Results: One hundred and sixteen patients with congenital scoliosis and a curve that included at least one hemivertebra were identified. Seventy-six of these patients had had magnetic resonance imaging and were included in the present study. The mean age of these patients at the time of presentation was 4.9 years, and the mean duration of follow-up was 7.7 years. Twenty-nine patients had an isolated hemivertebra, and forty-seven patients had a complex hemivertebral pattern. Eight (28%) of the twenty-nine patients with an isolated hemivertebra and ten (21%) of the forty-seven patients with a complex hemivertebral pattern had an intraspinal anomaly that was detected with magnetic resonance imaging. Overall, an abnormal finding on the history or physical examination demonstrated an accuracy of 71%, a sensitivity of 56%, a specificity of 76%, a positive predictive value of 42%, and a negative predictive value of 85% for the diagnosis of an intraspinal anomaly. Three patients with an isolated hemivertebra and five patients with a complex hemivertebral pattern underwent neurosurgical intervention. All eight patients who underwent neurosurgical intervention had had detection of an intraspinal anomaly with magnetic resonance imaging, whereas only four of these patients (two of whom had an isolated hemivertebra and two of whom had a complex hemivertebral pattern) had had an abnormal finding on either the history or the physical examination.

Conclusions: Patients who have an isolated hemivertebra and those who have a complex hemivertebral pattern have similar rates of intraspinal anomalies that are detected with magnetic resonance imaging and similar rates of subsequent neurosurgical intervention. The history and physical examination findings are not predictive of intraspinal anomalies. Therefore, a magnetic resonance imaging evaluation of the entire spine should be considered for all patients with congenital scoliosis, including those with an isolated hemivertebra.

Figures in this Article

During the first eight weeks of fetal development, vertebral elements form as the neural tube closes^1-3. An insult during this period of neuraxial development can affect the neural tube and/or the vertebral elements. The failure of formation or segmentation of vertebral bodies in the developing fetus or a combination of the two may result in congenital scoliosis. Congenital intraspinal anomalies along with cardiac and urogenital anomalies are the most common defects associated with congenital scoliosis as these organ systems develop concurrently in the fetus^4-7. The reported prevalence of congenital intraspinal anomalies as detected with magnetic resonance imaging or myelography has ranged from 20% to 58%^3,7-13. These abnormalities include syringomyelia, tethered spinal cord, diastematomyelia, diplomyelia, Chiari malformation, and other findings. Previous reports also have described an unreliable correlation between abnormal clinical findings and the presence of intraspinal anomalies. Higher rates of intraspinal anomalies have been reported in association with certain patterns of congenital spinal deformities, including congenital kyphosis^7,9 and congenital hemivertebrae with a contralateral bar^7,9,10,14. Consequently, initial evaluation with magnetic resonance imaging has been recommended in these specific cases^7,9.

Some authors have not considered the mere presence of an isolated hemivertebra to be a sufficient reason to warrant advanced spinal imaging techniques such as magnetic resonance imaging^7-9. An isolated congenital hemivertebra has been shown to be the most common form of congenital spinal deformity, with a reported prevalence of 22% to 43% in a population of individuals with congenital spinal deformity^11,12,15-17. While no study to date has specifically examined the subset of patients with an isolated hemivertebra, Prahinski et al.¹¹ found that all nine patients in their study who had an isolated hemivertebra had normal findings on magnetic resonance imaging. Similarly, McMaster¹⁰ reported that only six (8%) of seventy-seven patients with a hemivertebra had a congenital intraspinal anomaly. The findings reported in those studies present clinicians with the challenge of balancing the potential benefits of identifying an intraspinal anomaly against the potential risks of sedation of the child and the high cost of advanced imaging.

Accordingly, the purposes of the present study were (1) to determine whether patients who have an isolated hemivertebra, excluding those with a myelomeningocele, have a significantly lower rate of intraspinal anomalies and subsequent neurosurgical intervention compared with patients who have a complex hemivertebral pattern and (2) to assess the diagnostic performance of pertinent history or physical examination findings in predicting the presence of an intraspinal anomaly.

Materials and Methods

We retrospectively reviewed the records of 130 consecutive patients with congenital scoliosis and at least one hemivertebra who were seen at the Alfred I. duPont Institute between 1988 and 1998. Before the initiation of data collection, the planned study was reviewed and approved by the institutional review board. After the exclusion of fourteen patients who had an associated myelomeningocele, 116 patients with a curve that included at least one hemivertebra were identified. Seventy-six of these patients had undergone a magnetic resonance imaging study of the entire spine (from the skull to the coccyx) for the examination of neural axis abnormalities: the patients had been referred for magnetic resonance imaging by the pediatric orthopaedic surgeon because of various clinical indications. This discrepancy is best explained by the varying criteria that were used early in the study period to determine which patients with normal physical findings should be evaluated with magnetic resonance imaging. It was not until several years after the study began that magnetic resonance imaging was routinely performed for all patients with congenital scoliosis. These seventy-six patients were the subject of the present study. The medical records of all 116 patients were reviewed with regard to demographic characteristics, the history and physical examination findings, associated congenital anomalies, and subsequent neurosurgical interventions. A pediatric orthopaedic surgeon (R.W.K.) examined each patient. All records were screened for a positive family history, drug or alcohol use or association, known neurological deficits or urinary incontinence, and back pain. Medical records were also screened for abnormal physical and neurological findings, including abnormalities of the skin or subcutaneous tissues overlying the spine, neurological deficits in one or both lower limbs or the bladder, unilateral generalized underdevelopment of the lower limb, or the presence of a physical examination finding (in addition to the vertebral anomaly) associated with the VACTERL syndrome. The VACTERL association is used to describe a spectrum of associated congenital anomalies, with the acronym signifying vertebral defects, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, renal anomalies (including defects of the urinary system), and limb defects (including preaxial anomalies of the upper limbs)^18-25. Plain anteroposterior and lateral radiographs, made with the patient standing when age-appropriate, were reviewed to determine structural vertebral characteristics. Vertebral levels were identified with use of the first rib as a point of reference. All vertebrae were numbered successively from this point caudally in order to maintain consistency in identifying vertebral levels. Each magnetic resonance image was independently evaluated by a board-certified radiologist and reviewed to ascertain the presence of intraspinal anomalies. A tethered spinal cord was diagnosed when the level of the tip of the conus medullaris was caudad to the L2-L3 interspace²⁶.

Statistical Analysis

The diagnostic value of an abnormal finding on either the history or the initial physical examination for the prediction of intraspinal anomalies that were subsequently detected with magnetic resonance imaging was calculated. The diagnostic value was measured and reported in terms of accuracy (correct classification × 100/number of patients), sensitivity (true-positive results × 100/[true-positive + false-negative results]), specificity (true-negative results × 100/[true-negative + false-positive results]), positive predictive value (true-positive results × 100/[true-positive + false-positive results]), and negative predictive value (true-negative results × 100/[true-negative + false-negative results]). These results were calculated individually for the patients who had an isolated hemivertebra and those who had a complex hemivertebral pattern as well as for the overall group. The differences between groups were assessed with use of the Fisher exact test. Statistical analysis was performed with use of SigmaStat Statistical Software (Jandel Scientific, Palo Alto, California). The level of significance was set at p < 0.05.

Results

Seventy-six patients who met the study criteria were identified. The mean age at the time of presentation was 4.9 years (range, birth to 16.5 years), and the mean duration of follow-up was 7.7 years (range, two to seventeen years). There were thirty-three male patients and forty-three female patients. The mean age at the time of magnetic resonance imaging was 7.9 years (range, 0.3 to 19.5 years). This apparent delay or discrepancy of three years between the mean age at the time of presentation and the mean age at the time of magnetic resonance imaging was due to the original premise that patients with an isolated hemivertebra and a normal physical examination did not require magnetic resonance imaging. Twenty-nine patients had an isolated hemivertebra, and forty-seven patients had a complex hemivertebral pattern involving either hemivertebrae at multiple levels or a hemivertebra coupled with a failure of segmentation. The congenital spinal deformities were classified into several groups: hemivertebra (both fully segmented and semisegmented), block vertebra, butterfly vertebra, unilateral bar, and complex congenital spinal deformities²⁷. A wide variety of patterns were noted in the complex hemivertebral group.

Magnetic resonance imaging demonstrated an intraspinal anomaly in eighteen (24%) of the seventy-six patients. These anomalies included syringomyelia (nine patients; 12%), tethered spinal cord (six patients; 8%), lipoma filum terminale (six patients; 8%), diastematomyelia (three patients; 4%), diplomyelia (two patients), intradural lipoma (one patient), arachnoid cyst (one patient), and Chiari type-I malformation (one patient). Magnetic resonance imaging demonstrated an intraspinal anomaly in eight (28%) of the twenty-nine patients who had an isolated hemivertebra, compared with ten (21%) of the forty-seven patients who had a complex hemivertebral pattern (p = 0.59). The vertebral deformity was located within one vertebral level of an intraspinal anomaly in ten (56%) of the eighteen patients in whom such an anomaly was detected with magnetic resonance imaging. In the isolated hemivertebra group, there was no significant difference in the prevalence of intraspinal anomalies as seen on magnetic resonance images when patients who had a thoracic hemivertebra were compared with those who had a lumbosacral hemivertebra (p = 1.00) or when patients who had a fully-segmented hemivertebra were compared with those who had a semisegmented hemivertebra (p = 0.14).

History and Physical Examination Findings

An abnormal finding on the history or physical examination was noted in twenty-four (32%) of the seventy-six patients, including thirteen of the twenty-nine patients with an isolated hemivertebra and eleven of forty-seven patients with a complex hemivertebral pattern (p = 0.08) (see Appendix). There was no significant difference with regard to the prevalence of abnormal findings on the history or physical examination between the group of patients who were involved in this study and the group of patients who were excluded because they had not undergone magnetic resonance imaging (32% [twenty-four of seventy-six] compared with 28% [eleven of forty]) (p = 0.68).

In the group of patients who had an isolated hemivertebra, the presence of an abnormal finding on the history or physical examination resulted in five true-positive results, thirteen true-negative results, eight false-positive results, and three false-negative results. In the group of patients who had a complex hemivertebral pattern, the presence of an abnormal history or physical finding resulted in five true-positive results, thirty-one true-negative results, six false-positive results, and five false-negative results. There was no significant difference (p > 0.11) between the patients who had an isolated hemivertebra and those who had a complex hemivertebral pattern with regard to accuracy (62% compared with 77%), sensitivity (63% compared with 50%), specificity (62% compared with 84%), positive predictive value (38% compared with 45%), or negative predictive value (81% compared with 86%) (Table I).

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TABLE I Prevalence of Intraspinal Anomalies and Diagnostic Value of History and Physical Examination Findings

						Predictive Value (%)
Group	No. of Patients	Intraspinal Anomaly (No. of Patients)	Accuracy (%)	Sensitivity (%)	Specificity (%)	Positive	Negative
Isolated hemivertebra	29	8 (28%)	62	63	62	38	81
Complex pattern	47	10 (21%)	77	50	84	45	86
Overall	76	18 (24%)	71	56	76	42	85

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TABLE I Prevalence of Intraspinal Anomalies and Diagnostic Value of History and Physical Examination Findings

						Predictive Value (%)
Group	No. of Patients	Intraspinal Anomaly (No. of Patients)	Accuracy (%)	Sensitivity (%)	Specificity (%)	Positive	Negative
Isolated hemivertebra	29	8 (28%)	62	63	62	38	81
Complex pattern	47	10 (21%)	77	50	84	45	86
Overall	76	18 (24%)	71	56	76	42	85

Neurosurgical Intervention

Three (10%) of the twenty-nine patients with an isolated hemivertebra and five (11%) of the forty-seven patients with a complex hemivertebral pattern underwent neurosurgical intervention (p = 0.99). All eight patients who underwent neurosurgical intervention had had detection of an intraspinal anomaly on magnetic resonance imaging, whereas only four of these patients (two of whom had an isolated hemivertebra and two of whom had a complex hemivertebral pattern) had had an abnormal finding on the history or the initial physical examination.

In the group of twenty-nine patients with an isolated hemivertebra, two patients had release of a tethered spinal cord and one had excision of an arachnoid cyst (Figs. 1-A, 1-B, and 1-C). The remaining five patients in this group who had an intraspinal anomaly had been asymptomatic at the time of presentation. Four of these five patients had a syringomyelia, and one had lipoma filum terminale. These patients did not undergo neurosurgical intervention and remained asymptomatic at the time of the latest follow-up.

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Figs. 1-A, 1-B, and 1-C: A twenty-three-month-old girl. Fig. 1-A Anteroposterior plain radiograph demonstrating a fully-segmented hemivertebra.

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Figs. 1-B and 1-C: Sagittal and axial magnetic resonance images revealing an associated arachnoid cyst at T11-T12.

In the group of forty-seven patients with a complex hemivertebral pattern, one patient underwent release of a tethered spinal cord that was associated with diplomyelia, one patient underwent release of a tethered spinal cord that was associated with a lipoma filum terminale, and two patients underwent simultaneous excision of a diastematomyelia and release of a tethered spinal cord. The fifth patient in this group who underwent neurosurgical intervention had presented at the age of six months with a normal history and normal findings on physical examination. At the age of thirteen months, the patient underwent magnetic resonance imaging, which demonstrated a syrinx at C3-C7 and from T5 to the conus as well as a tethered spinal cord. One month later, the patient underwent posterior spinal fusion without antecedent neurosurgical intervention. The patient did well postoperatively until the age of seventy months, when urinary incontinence developed. At the age of seventy-three months, the patient had a release of the tethered spinal cord to address this neurological deterioration, resulting in resolution of the incontinence. In addition, five other patients were found to have an intraspinal anomaly with no neurological deficit. The anomalies included diplomyelia, a Chiari type-I malformation, lipoma filum terminale, syringomyelia with lipoma filum terminale, and syringomyelia with a tethered spinal cord and diastematomyelia. These patients remained asymptomatic during the follow-up period and did not undergo neurosurgical intervention. Four of these five patients (with the exclusion of the patient who had a tethered spinal cord and diastematomyelia) eventually underwent curve stabilization with in situ fusion. None of these patients experienced a change in the neurological status postoperatively.

Discussion

In patients with congenital spinal deformity, the prevalence of intraspinal anomalies that are detected with magnetic resonance imaging or myelography has been reported to be 20% to 58%^3,7-15. The overall prevalence of intraspinal anomalies in the present study (24%) is on the lower end of this range. This finding may be attributable to the exclusion of patients with congenital kyphosis, in whom this rate has been reported to be 56% to 75%^7,9.

The prevalence of intraspinal anomalies in patients with an isolated hemivertebra has been reported to range from 0% to 8%^9,10. Contrary to our initial hypothesis, the prevalence of intraspinal anomalies that were detected with magnetic resonance imaging in patients with an isolated hemivertebra (28%) was similar to that in patients with a complex hemivertebral pattern (21%).

The criteria for an abnormal finding on the history or physical examination as described in the current study were similar to those initially described by McMaster¹⁰. A VACTERL-associated finding on the physical examination (in addition to vertebral anomaly) also was considered to be an abnormal finding. Two patients in the present study (one of whom had an isolated hemivertebra and one of whom had a complex hemivertebral pattern) had a VACTERL-associated abnormality, and the inclusion of these two patients did not statistically alter our findings.

Our review of the literature revealed six studies involving 453 patients with congenital spinal deformity who had undergone spinal magnetic resonance imaging or myelography and for whom the history and physical examination findings had been recorded^7-11,13,15. The criteria for an abnormal finding on the history or physical examination as defined in the present study were applied to those previous studies whenever the data were available. On the basis of those six studies, an abnormal finding on the history or physical examination demonstrated an accuracy of 65%, a sensitivity of 59%, a specificity of 87%, a positive predictive value of 74%, and a negative predictive value of 72% for the diagnosis of an intraspinal anomaly. These results were similar to those for the group of patients in the present study who had an isolated hemivertebra, for whom an abnormal finding on the history or physical examination demonstrated an accuracy of 62%, a sensitivity of 63%, a specificity of 62%, a positive predictive value of 38%, and a negative predictive value of 81% for the diagnosis of an intraspinal abnormality. Thus, in patients with congenital scoliosis, including those with an isolated hemivertebra, normal findings on the history and physical examination are not reliably predictive of a normal spinal cord as assessed with magnetic resonance imaging. Of note, one patient in our series who had an isolated hemivertebra and normal findings on the history and physical examination became symptomatic after the initial presentation but before a magnetic resonance imaging scan demonstrated the presence of an arachnoid cyst. Similarly, McMaster¹⁰ reported on three patients with congenital scoliosis who had a normal history and physical findings and later experienced neurological deterioration. The corollary is also true that an abnormal history or physical examination is not predictive of abnormal magnetic resonance imaging findings. Additional potential confounding variables for the relatively low diagnostic values of an abnormal finding on the history or physical examination in the evaluation of children and adolescents with congenital spinal deformities may include the difficulty of obtaining an accurate history and a lack of patient cooperation during the physical examination.

Magnetic resonance imaging is superior to either radiography or myelography for the identification and evaluation of early developmental conditions of the neural axis because it provides more information and is less invasive. In the current study, the most common intraspinal anomalies diagnosed with magnetic resonance imaging were syringomyelia (nine patients; 12%), tethered spinal cord (six patients; 8%), lipoma filum terminale (six patients; 8%) and diastematomyelia (three patients; 4%). These findings corroborate those of previous magnetic resonance imaging studies of congenital scoliosis that have demonstrated that the most common intraspinal anomalies were tethered spinal cord (prevalence, 13% to 29%), syringomyelia (prevalence, 7% to 13%), and diastematomyelia (prevalence, 3% to 12%)^7,9,11,15. In the current study, tethering of the spinal cord was considered to be present when the tip of the conus medullaris was caudad to the L2-L3 interspace, which is the currently accepted diagnostic criterion on magnetic resonance imaging²⁶. Different interpretations of what constitutes a tethered spinal cord may account for some of the discrepancy among series and may explain the lower prevalence of tethered spinal cord in the current study.

The prevalence of neurosurgical intervention in patients with an isolated hemivertebra as compared with that in patients with a complex hemivertebral pattern has not been previously reported. In the current study, 10% (three) of twenty-nine patients with an isolated hemivertebra and 11% (five) of forty-seven patients with a complex hemivertebral pattern underwent neurosurgical intervention. Importantly, the rate of neurosurgical intervention in this and other studies is subject to variability in opinion regarding the neurosurgical treatment of intraspinal anomalies in patients with congenital scoliosis. All eight patients who underwent neurosurgical intervention had had detection of an intraspinal anomaly on magnetic resonance imaging, whereas only four of these patients (two of whom had an isolated hemivertebra and two of whom had a complex hemivertebral pattern) had had an abnormal finding on either the history or the physical examination.

The present study had several limitations. First, the study was retrospective in nature, introducing the possibility of sampling error. Of the 116 patients who were identified with a curve that included at least one hemivertebra, only seventy-six had undergone total spine magnetic resonance imaging. As magnetic resonance imaging studies were not ordered on the basis of a prospective protocol, the results may have been biased by the individual surgeon's decision-making criteria. While the impact of this sampling error cannot be known, the difference in the prevalence of an abnormal history or physical examination finding between patients who had undergone magnetic resonance imaging (32%) and those who were excluded from this study because they had not undergone magnetic resonance imaging (28%) was not significant (p = 0.68). Second, despite the fact that a pediatric orthopaedic surgeon individually evaluated each patient, a prospective clinical study utilizing a standardized history and physical examination might alter the accuracy rate. However, the diagnostic accuracy of an abnormal history or physical examination finding for predicting an intraspinal anomaly in the current study (71%) was similar to the diagnostic accuracy that we found for magnetic resonance imaging or myelography in our historical review (65%). Third, we believe that one should exercise caution when using the rate of neurosurgical intervention for congenital intraspinal anomalies as an outcome parameter because this rate is subject to variability in opinion in terms of the treatment of these intraspinal anomalies. Nevertheless, Dobbs et al.²⁸, in a recent multicenter study concerning the treatment of intraspinal anomalies in patients with infantile scoliosis, used the rate of neurosurgical intervention as one of their main outcome parameters.

In conclusion, patients who have an isolated hemivertebra and those who have a complex hemivertebral pattern appear to have similar rates of intraspinal anomalies that are detected with magnetic resonance imaging and similar rates of subsequent neurosurgical intervention. History and physical examination findings were of limited benefit in predicting the presence of intraspinal anomalies on magnetic resonance images and the subsequent need for neurosurgical intervention. Therefore, a total spine magnetic resonance imaging scan should be considered for all patients with congenital scoliosis, including those with an isolated hemivertebra. More definitive recommendations regarding the use of magnetic resonance imaging in all patients with congenital scoliosis will require a thorough cost-benefit analysis.

Appendix

A table showing the abnormal history and physical examination findings for all patients is available with the electronic versions of this article, on our web site at (go to the article citation and click on "Supplementary Material") and on our quarterly CD-ROM (call our subscription department, at 781-449-9780, to order the CD-ROM).

Acknowledgements

Note: The authors thank Robin Howard, MS, for her assistance with the statistical analysis.

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Topics

congenital scoliosis ; vibration

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Philip J. BelmontJr., Timothy R. Kuklo, Kenneth F. Taylor, Brett A. Freedman, John R. Prahinski, Richard W. Kruse; Intraspinal Anomalies Associated with Isolated Congenital Hemivertebra: The Role of Routine Magnetic Resonance Imaging. The Journal of Bone & Joint Surgery. 2004 Aug;86(8):1704-1710.

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