Is deformity correction essential in a "Myelopathic Cord"? - A case series.

INTRODUCTION: The incidence of preoperative neurological deficits in pediatric patients with complex deformities ranges from 15% to 23%. Furthermore, the likelihood of a postoperative neurological deficit can be considerably increased to 83.3% in the presence of a preoperative neurological deficit. Hence, the management of pediatric spinal deformities with neurological deficits is a challenge for every spine surgeon. Here, we describe four consecutive cases of pediatric spinal deformity with myelopathic cord, all of which were managed with decompressive surgery and stabilization without any attempts to correct the deformity. All the patients recovered well neurologically, without any progression of deformity. CASE PRESENTATION: The authors obtained the informed written consent from the patient and their parents for the print and electronic publication of the case. All four patients had clinical myelopathy with a progressive, worsening neurological deficit. The pathology was in the thoracic region in all the patients. Of the four cases, two were post-tubercular deformities, and two were congenital deformities. The treatment strategy for all patients was circumferential decompression of the spinal cord with posterior pedicle screw instrumentation. Although all patients had significant neurological deficits (Nurick grade 4 or 5) preoperatively, we used intraoperative neuromonitoring to prevent the worsening of the deficit during the procedure. None of the patients experienced intraoperative signal changes. All patients had significant neurological recovery (Nurick grade 0 to 2) and showed no worsening of deformity at their latest follow-up, up to 4 years. All showed good improvement in all domains of the SRS22r questionnaire. DISCUSSION: It is challenging for spine surgeons to manage complex spinal abnormalities in pediatric patients with myelopathic cords. Even a minimal manipulation of the cord during surgery might result in severe long-term morbidity. The primary objective in managing such patients should be neurological recovery rather than deformity correction-"First do no harm," and if necessary, the deformity can be corrected at a later stage under neuromonitoring.

[Imaging characteristics and surgical effect for symmetrical lumbar hemivertebrae].

Objective: To analyze the imaging characteristics and surgical effect for symmetrical lumbar hemivertebrae in pediatric patients. Methods: The data of 13 patients with hemivertebrae locating in the lumbar spine symmetrically were retrospectively analyzed, and all the patients were treated in Beijing Children's Hospital from January 2015 to September 2021. The mean age of the patients was 6.2 (2.9, 9.3) years. There were 8 males and 5 females. The data of coronal/sagittal plane including segmental Cobb angle, cranial/caudal compensatory curve, thoracic kyphosis, thoracolumbar kyphosis, sacral obliquity, and lumbar lordosis were recorded through long cassette spinal radiographs. Associated anomalies and the relationship between hemivertebrae and posterior component were recorded through computerized tomography (CT) and magnetic resonance imaging (MRI). All the patients received surgery, and their pre-and postoperative imaging data were compared. Results: A total of 26 hemivertebraes were found, in which 80.8% (21/26) located below L2. Hemivertebraes in 10 patients were separated by a mean 1-2 normal vertebrae. Most hemivertebraes along with the corresponding posterior component were unison (21/26, 80.8%). The Cobb angles of cranial compensatory curve (13.9°±7.2°) was more serious than that of caudal compensatory curve (5.5°±5.0°)(P=0.04). The lumbar lordosis and thoracic kyphosis was 20.2°±15.0° and 18.7°±9.2°, respectively. Six patients complicated with sacral obliquity, while 7 patients complicated with thoracolumbar lordosis. Associated anomalies were found in 6 (46.2%) patients through CT and MRI. Eleven patients received one-or two-stage posterior hemivertebrae resection with short segmental fusion, and 2 patients received one-stage hemivertebrae resection with long segmental fusion. All the surgery were completed successfully without serious complications such as nerve injury, infection, and implant failure. The mean follow-up period was (42.4±10.2) months. At the last follow-up point, the correction rate of segmental Cobb angle and cranial compensatory curve was 83.3%±15.6% and 38.1%±10.4%, respectively, showing significant improvement (P<0.05). Although the caudal compensatory curve, sacral obliquity, and thoracic kyphosis improved after surgery, the data showed no significant difference compared to that before surgery. Thoracolumbar lordosis in all patients were corrected. Conclusions: Most hemivertebraes in such spinal deformity locate in lower lumbar region with a high incidence of anomalies. Individualized treatment based on patients' condition is essential for the complicated spinal deformity.

A case of anterior fibroneural stalk, cervicothoracic junction anomaly, enteric duplication cyst, and diaphragmatic hernia: validation of a recently reported notochordal development disorder with pre- and postnatal multimodality imaging.

The syndrome of anterior fibroneural stalk, vertebral anomaly, enteric duplication cyst, and diaphragmatic hernia is a manifestation of abnormal notochordal development due to persistence of the neurenteric canal beyond early fetal gestational age. Our description of the third such published case to date supports this novel tetralogy and further illustrates the role of both pre- and postnatal imaging in achieving the diagnosis.

Posterior-Only T11 Vertebral Column Resection for Pediatric Congenital Kyphosis Surgical Correction.

Background: Congenital kyphosis is a spinal deformity that arises from the inadequate anterior development or segmentation of the vertebrae in the sagittal plane during the initial embryonic stage. Consequently, this condition triggers atypical spinal growth, leading to the manifestation of deformity. Concurrently, other congenital abnormalities like renal or cardiac defects within the gastrointestinal tract may co-occur with spinal deformities due to their shared formation timeline. In light of the specific characteristics of the deformity, the age range of the patient, deformity sizes, and neurological conditions, surgical intervention emerges as the optimal course of action for such cases. The selection of the appropriate surgical approach is contingent upon the specific characteristics of the anomaly. Case Presentation: This investigation illustrates the utilization of a surgical posterior-only strategy for correcting pediatric congenital kyphoscoliosis through the implementation of a vertebral column resection method along with spine reconstruction employing a mesh cage. The individual in question, a 16-year-old female, exhibited symptoms such as a progressive rib hump, shoulder asymmetry, and back discomfort. Non-invasive interventions like bracing proved ineffective, leading to the progression of the spinal curvature. After the surgical procedure, diagnostic imaging displayed a marked enhancement across all three spatial dimensions. After a postoperative physical assessment, it was noted that the patient experienced significant enhancements in shoulder alignment and rib hump prominence, with no discernible neurological or other adverse effects. Conclusions: Surgical intervention is considered the optimal approach for addressing such congenital anomalies. Typically, timely surgical intervention leads to favorable results and has the potential to halt the advancement of deformity and curvature enlargement.

The association between variations in the number of thoracic and lumbar vertebrae and rib morphology in adolescent idiopathic scoliosis.

PURPOSE: Preoperative counting of thoracic and lumbar vertebrae is crucial in adolescent idiopathic scoliosis (AIS) due to reported anatomical variations and potential surgical site misidentification. This study investigated characteristics associated with the vertebral number variations AIS, particularly focusing on rib morphology. METHODS: Based on three-dimensional computed tomography, patients were categorized into the non-variant number group, comprising individuals with 12 thoracic and 5 lumbar vertebrae, and the variant number group, comprising individuals with different numbers of vertebrae. Additionally, the most caudal rib morphology was classified as normal, unilateral, or hypoplastic. RESULTS: A total of 359 patients were included in our study (41 males, 318 females, age: 16.3 ± 3.1 years), with 44 patients (12.3%) assigned to the variant number group. Logistic regression analysis identified unilateral ribs (odds ratio [OR]: 10.50) and lumbosacral transitional vertebrae (LSTV) (OR 6.49) as significant risk factors associated with variations. Further analysis revealed hypoplastic ribs as a significant risk factor associated with LSTV (OR: 4.58). 8 CONCLUSION: Our study suggests that abnormal rib morphology may be associated with vertebral number variations. Close attention to rib morphology is, therefore, warranted in cases with atypical vertebral numbers. Accordingly, to ensure surgical safety and accuracy, spine surgeons must communicate these variations to the surgical team, standardize nomenclature for describing them, and intraoperatively verify fusion levels with them.

A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome.

OBJECTIVES: Genetic disorders involved in skeleton system arise due to the disturbance in skeletal development, growth and homeostasis. Filamin B is an actin binding protein which is large dimeric protein which cross link actin cytoskeleton filaments into dynamic structure. A single nucleotide changes in the FLNB gene causes spondylocarpotarsal synostosis syndrome, a rare bone disorder due to which the fusion of carpels and tarsals synostosis occurred along with fused vertebrae. In the current study we investigated a family residing in north-western areas of Pakistan. METHODS: The whole exome sequencing of proband was performed followed by Sanger sequencing of all family members of the subject to validate the variant segregation within the family. Bioinformatics tools were utilized to assess the pathogenicity of the variant. RESULTS: Whole Exome Sequencing revealed a novel variant (NM_001457: c.209C>T and p.Pro70Leu) in the FLNB gene which was homozygous missense mutation in the FLNB gene. The variant was further validated and visualized by Sanger sequencing and protein structure studies respectively as mentioned before. CONCLUSIONS: The findings have highlighted the importance of the molecular diagnosis in SCT (spondylocarpotarsal synostosis syndrome) for genetic risk counselling in consanguineous families.

Spinopelvic morphology impacts on postoperative proximal junctional kyphosis in congenital scoliosis with thoracolumbar hemivertebrae.

PURPOSE: It aims to investigate the lumbar and pelvic morphology in congenital scoliosis with thoracolumbar hemivertebrae and its impact on proximal junctional kyphosis (PJK) incidence after hemivertebra resection and short fusion. METHODS: 23 congenital scoliosis patients with thoracolumbar hemivertebra aged between 10 and 18 years were enrolled in the retrospective study. Spinopelvic sagittal parameters were analyzed on whole-spine standing lateral radiographs preoperatively, one-week postoperatively and at the final follow-up. Pearson correlations were calculated for local kyphosis (LK), lumbar and pelvic morphology parameters. Binary logistic regression and receiver operating characteristics (ROC) curve analysis were performed to identify the risk factors for PJK. RESULTS: Thoracolumbar hemivertebra caused LK of 29.2° ± 17.3°, an increased lumbar lordosis (LL) (-64.7° ± 16.3°), lower LL apex (52.2% at L5), and small pelvic incidence (PI) (36.8° ± 6.6°). LK was correlated with lumbar morphology parameters, including LL (r = - 0.837), upper arc of LL (LLUA) (r = - 0.879), thoracolumbar kyphosis (TLK) (r = 0.933), thoracic kyphosis (TK) (r = 0.762) and TK apex (TKA) (r = - 0.749). Surgical treatment improved the lumbar morphology, but not pelvic morphology. At the final follow-up, LL had returned to its preoperative value (p = 0.158). PJK occurred in 30.4% of cases as a compensatory mechanism. Preoperatively, significant differences of parameters between non-PJK and PJK groups were observed in LK and TLK. Binary logistic regression identified three independent risk factors for PJK: preoperative LLA (OR = 0.005, 95%CI = 0.000-0.287, p = 0.011), preoperative TLK (OR = 1.134, 95%CI = 1.001-1.286, p = 0.048), and preoperative lumbar lordosis morphology type (OR = 5.507, 95%CI = 1.202-25.227, p = 0.028). However, residual LK after surgery was not correlated with PJK incidence. ROC curve analysis verified that preoperative TLK > 22.59° was associated with increased PJK incidence after surgery. CONCLUSIONS: Lumbar morphology changes as a compensatory mechanism beneath the thoracolumbar hemivertebra. However, a stable pelvis tends to allow the LL to return to its preoperative value. PJK occurred as a cranial compensatory mechanism for increasing LL and corrected TLK. A larger TLK (> 22.59°) was an independent risk factor for PJK incidence in patients with type 2 and 3A lumbar lordosis morphology.

Clinical outcomes of 20 brachycephalic dogs with thoracolumbar spinal deformities causing neurological signs treated with spinal stabilization using 3D-printed patient-specific drill guides.

OBJECTIVE: To describe the clinical outcomes for pugs and French bulldogs with congenital vertebral malformations, undergoing thoracolumbar spinal stabilization surgery using 3D-printed patient-specific drill guides. To evaluate the accuracy of pedicle screw placement in this group of dogs. STUDY DESIGN: Retrospective descriptive study. ANIMALS: Twenty dogs (12 pugs and eight French bulldogs). METHODS: Medical records searched between August 2018 and March 2021 for pugs and French bulldogs diagnosed with congenital vertebral abnormalities via magnetic resonance imaging (MRI) scan and computed tomography (CT) scan causing T3-L3 myelopathy signs that underwent spinal stabilization surgery using 3D-printed patient-specific drill guides followed by a postoperative CT scan. The short-term outcome was based on the neurological grade (modified Frankel score-MFS) on the day after surgery, day of discharge, and at the follow-up examination at 4 to 6 weeks after surgery. The mid-term outcome was obtained via an online questionnaire (or direct examination in one case). RESULTS: Twenty dogs met the inclusion criteria (19/20 grade 2 MFS, 1/20 grade 4 MFS). No complications were reported in the immediate postoperative period and optimal pedicle screw placement was obtained in 169/201 of screws. Twenty-four hours after surgery 16/20 dogs displayed an unchanged neurological grade. Short-term outcomes revealed a static (17/20) or improved (2/20) neurological grade. Ten owners participated in the online questionnaire. All patients were reported to be ambulatory; however, 7/10 dogs displayed abnormal gait. Neurological signs had remained static (6/10) or improved (3/10) in comparison with the dogs' preoperative status at a median of 883.5 days from the surgery. CONCLUSION: Dogs in this study had a favorable short-term outcome and mid-term outcome evaluation revealed a static/improved neurological status. CLINICAL SIGNIFICANCE: Thoracolumbar spinal stabilization surgery using 3D-printed patient-specific drill guides showed a favorable outcome in brachycephalic breeds affected by vertebral deformities.

Circumferential Approach to Congenital Kyphoscoliosis with Hemivertebra: Adding on Rather than Resecting Could Be a Better Option in Older Adolescents.

OBJECTIVE: To present a new technique combining anterior release with allograft insertion and lateral fixation at the concave side of the curve, preserving the hemivertebra and posterior bilateral transpedicular fixation in patients with congenital kyphoscoliosis (CKS) who were not operated on until late adolescence, including long-term follow-up of patients, and a discussion of the literature on CKS with hemivertebra. METHODS: Two patients with CKS concomitant with hemivertebra underwent circumferential (anterior-posterior) instrumentation and fusion using a new technique. RESULTS: Patient 1 underwent a 2-stage operation, first anterior then posterior. Patient 2 was operated on circumferentially in 1 session. Both patients had >10 years of follow-up showing solid fusion of their operated spine segments. The patients were pain-free, and their body heights were comparable to healthy peers. CONCLUSIONS: In our circumferential approach, we successfully integrated the hemivertebrae in anterior fusions rather than resecting them in older adolescents with CKS. This technique decreased bleeding, shortened operative time, and promised potential benefits compared with the available techniques in the literature.

Prominent caudal shift of the lumbar plexus roots in spines with 18 thoracolumbar vertebrae.

PURPOSE: It remains unclear whether concomitant changes in the thoracolumbar (TL) vertebrae and lumbar plexus roots seen in experimental embryology are present in humans with different vertebral formulas, particularly in humans with 18 TL vertebrae. We thus investigated the human lumbar plexus root changes occurring in spines with an additional TL vertebra (18TL). METHODS: The lumbosacral plexus was macroscopically dissected in TL anomaly cases found in 161 computed tomography examinations. TL anomalies were distinguished as simple abnormalities in total TL count and abnormal TL trade-offs, i.e., exchanges between the last thoracic and first lumbar vertebrae, and were analyzed separately. RESULTS: One additional TL vertebra (7C_18TL_5S) was observed in 4/159 cases (2.5%), excluding cases with cervical and sacral abnormalities. Different from the unclear shifts of nerve roots in cases with 16TL and 17TL trade-offs, the 18TL trade-off tended to involve a caudal shift at the cranial limit, without event change at the caudal limit. In addition, only one nerve segment shift was reconfirmed with a change in two vertebral segments from 16 to 18 TL vertebrae. CONCLUSIONS: We revealed that concomitant changes in the lumbar plexus roots and vertebrae in humans with 18TL vertebrae may become more pronounced than those in humans with 16 or 17TL vertebrae, by approaching the typical mammalian TL formula (19TL). This study showed that the TL formula can be used to estimate changes in the lumbar plexus roots, which may assist in the planning of nerve-sparing spinal and pelvic surgery.

Medium-term and Long-term Follow-up Surgical Outcomes of the 1-stage Posterior-only Lumbosacral Hemivertebra Resection With Short-segment Fusion in Children.

BACKGROUND: The objective of this study was to evaluate the medium-term and long-term surgical outcomes of the 1-stage posterior-only lumbosacral hemivertebra resection with short-segment fusion in children. METHODS: This retrospective chart review included 21 children with congenital scoliosis due to lumbosacral hemivertebra who received 1-stage posterior-only hemivertebra resection with short-segment fusion from 2012 to 2016 with at least 5 years of follow-up. Standing anteroposterior and lateral radiographs of the spine were compared preoperatively, postoperatively, and at last follow-up. Radiographic evaluation included measured changes in segmental scoliosis and lordosis, compensatory scoliosis, thoracic kyphosis, lumbar lordosis, trunk shift, and sagittal spinopelvic alignment. RESULTS: There were 12 boys and 9 girls with a mean age of 6.5±3.2 years. The mean follow-up period was 6.7±1.3 years. The mean fusion level was 2.7±0.9 segments. The mean segmental scoliosis was 29±6 degrees preoperatively, 9±3 degrees (correction rate of 71%) postoperatively ( P <0.05), and 7±3 degrees (correction rate of 76%) at the latest follow-up. The compensatory curve of 26±12 degrees was spontaneously corrected to 14±8 degrees (correction rate of 47%) at last follow-up ( P <0.05). Trunk shift was significantly improved on both coronal (53%) and sagittal (56%) planes after surgery ( P 0.05) and stable at follow-up. The sagittal spinopelvic alignment was balanced in all cases. There were no neurological or infectious complications. CONCLUSIONS: It is safe and effective to perform 1-stage posterior-only lumbosacral hemivertebra resection with short-segment fusion, which can significantly correct the segmental scoliosis, prevent the compensatory curve progress and improve the trunk shift. This strategy also can save motion segments and avoid long lumbar fusion. Medium-term and long-term follow-up outcomes are satisfactory. LEVEL OF EVIDENCE: Level III.

Use of a Customized Three-dimensional Guide in Preparing the Pilot Pedicle Hole in Spinal Deformities / Uso de guia tridimensional personalizado no preparo do orifício do pedículo piloto em deformidades da coluna vertebral

Abstract Objective The present study aimed to develop and evaluate the use of customized guides in patients undergoing surgery to correct vertebral deformity with a pedicular fixation system. Methods Four patients with spinal deformity (three with idiopathic scoliosis and one with congenital kyphoscoliosis) underwent surgical treatment to correct the deformity with a pedicular fixation system. Prototypes of 3D cost guides were developed and evaluated using technical feasibility, accuracy, and radiation exposure. Results The present study included 85 vertebral pedicles in which pedicle screws were inserted into the thoracic spine (65.8%) and into the lumbar spine (34.2%). Technical viability was positive in 46 vertebral pedicles (54.1%), with 25 thoracic (54%) and 21 lumbar (46%). Technical viability was negative in 39 pedicles (45.9%), 31 of which were thoracic (79.5%), and 8 were lumbar (20.5%). In assessing accuracy, 36 screws were centralized (78.2%), of which 17 were in the thoracic (36.9%) and 19 in the lumbar spine (41.3%). Malposition was observed in 10 screws (21.7%), of which 8 were in the thoracic (17.4%) and 2 in the lumbar spine (4.3%). The average radiation record used in the surgical procedures was of 5.17 ± 0.72 mSv, and the total time of use of fluoroscopy in each surgery ranged from 180.3 to 207.2 seconds. Conclusion The customized guide prototypes allowed the safe preparation of the pilot orifice of the vertebral pedicles in patients with deformities with improved accuracy and reduced intraoperative radiation.

Resumo Objetivo O presente estudo teve como objetivo desenvolver e avaliar a utilização de guias personalizadas em pacientes submetidos a cirurgia para correção de deformidades vertebrais com sistema de fixação pedicular. Métodos Quatro pacientes com deformidade espinhal (três casos de escoliose idiopática e um caso de cifoescoliose congênita) foram submetidos a tratamento cirúrgico corretivo com sistema de fixação pedicular. Protótipos de guias tridimensionais foram desenvolvidos e avaliados quanto à viabilidade técnica, precisão e exposição à radiação. Resultados O presente estudo incluiu 85 pedículos vertebrais submetidos à inserção de parafusos pediculares na coluna torácica (65,8%) e na coluna lombar (34,2%). A viabilidade técnica foi positiva em 46 pedículos vertebrais (54,1%), sendo 25 torácicos (54%) e 21 lombares (46%). A viabilidade técnica foi negativa em 39 pedículos (45,9%), sendo 31 torácicos (79,5%) e 8 lombares (20,5%). Quanto à precisão, 36 parafusos foram centralizados (78,2%), sendo 17 na coluna torácica (36,9%) e 19 na coluna lombar (41,3%). O mau posicionamento foi observado em 10 parafusos (21,7%), sendo 8 na coluna torácica (17,4%) e 2 na coluna lombar (4,3%). A radiação média registrada nos procedimentos cirúrgicos foi de 5,17 ± 0,72 mSv, e o tempo total de uso da fluoroscopia em cada cirurgia variou de 180,3 a 207,2 segundos. Conclusão Os protótipos de guias personalizadas permitiram o preparo seguro do orifício piloto nos pedículos vertebrais em casos de deformidade, com maior precisão e menor exposição intraoperatória à radiação.

Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.

Arthrogryposis is a consequence of reduced fetal movements and arises due to environmental factors or underlying genetic defects, with extensive genetic heterogeneity. In many instances, the genes responsible are involved in neuromuscular function. Missense variants in the gene encoding embryonic myosin heavy chain (MYH3) usually cause distal arthrogryposis. Recently, mono-allelic or bi-allelic MYH3 variants have been associated with contractures, pterygia, and spondylocarpotarsal fusion syndrome 1 (CPSFS1A and CPSFS1B). Here we describe three fetuses presenting in the second trimester with a lethal form of arthrogryposis and pterygia and harbouring bi-allelic variants in MYH3. One proband was compound heterozygous for a missense change and an extended splice site variant, a second proband had a homozygous frameshift variant, and a third proband was homozygous for a nonsense variant. Minigene assays performed on the first fetus showed that the missense and extended splice site variants resulted in aberrant splicing, likely resulting in near complete loss of full-length MYH3 transcript. This study shows that loss of MYH3 is associated with a lethal arthrogryposis phenotype and highlights the utility of minigene assays to assess splicing.

Bioinformatics Analysis and Experimental Verification Identify Downregulation of COL27A1 in Poor Segmental Congenital Scoliosis.

BACKGROUND: Congenital scoliosis (CS) represents the congenital defect disease, and poor segmental congenital scoliosis (PSCS) represents one of its types. Delayed intervention can result in disability and paralysis. In this study, we would identify the core biomarkers for PSCS progression through bioinformatics analysis combined with experimental verification. METHODS: This work obtained the GSE11854 expression dataset associated with somite formation in the GEO database, which covers data of 13 samples. Thereafter, we utilized the edgeR of the R package to obtain DEGs in this dataset. Then, GO annotation, KEGG analyses, and DO annotation of DEGs were performed by "clusterProfiler" of the R package. This study performed LASSO regression for screening the optimal predicting factors for somite formation. Through RNA sequencing based on peripheral blood samples from healthy donors and PSCS cases, we obtained the RNA expression patterns and screen out DEGs using the R package DESeq2. The present work analyzed COL27A1 expression in PSCS patients by the RT-PCR assay. RESULTS: A total of 443 genes from the GSE11854 dataset were identified as DEGs, which were involved in BP associated with DNA replication, CC associated with chromosomal region, and MF associated with ATPase activity. These DEGs were primarily enriched in the TGF-ß signaling pathway and spinal deformity. Further, LASSO regression suggested that 9 DEGs acted as the signature markers for somite formation. We discovered altogether 162 DEGs in PSCS patients, which were involved in BP associated with cardiac myofibril assembly and MF associated with structural constituent of muscle. However, these 162 DEGs were not significantly correlated with any pathways. Finally, COL27A1 was identified as the only intersected gene between the best predictors for somite formation and PSCS-related DEGs, which was significantly downregulated in PSCS patients. CONCLUSION: This work sheds novel lights on DEGs related to the PSCS pathogenic mechanism, and COL27A1 is the possible therapeutic target for PSCS. Findings in this work may contribute to developing therapeutic strategies for PSCS.

Vertebral vascular canal dysplasia in French and English Bulldogs: Clinical, CT, and MRI characteristics and prevalence.

The authors have observed a vertebral anomaly in French and English Bulldogs and termed this anomaly "vertebral vascular canal dysplasia (VVCD)." No previously published descriptions of this anomaly were found. The aims of this retrospective, multi-institutional, observational study were to (1) describe the clinical, CT, and MRI characteristics of VVCD, and (2) estimate the prevalence and describe the characteristics of VVCD in a group of French and English Bulldogs. For descriptions of the anomaly, medical records and imaging studies of nine clinical cases with VVCD from several countries were reviewed. For estimation of prevalence, imaging studies of French and English Bulldogs from the United Kingdom (UK) and Italy were reviewed. All clinical case dogs had ≥5 thoracic vertebrae with VVCD affecting >50% of vertebral body height (VBH). The prevalence of VVCD involving ≥1 thoracic vertebra in the UK population (CT identified) of English Bulldogs and French Bulldogs was, respectively, 83.3% (30/36) and 68.3% (28/41). English Bulldogs had significantly more thoracic vertebrae with VVCD than French Bulldogs (P = < 0.01). The prevalence of VVCD in ≥1 thoracic vertebra in the Italian population (MRI identified) of English Bulldogs and French Bulldogs was, respectively, 21.7% (5/23) and 6.6% (7/106). Vertebral vascular canal dysplasia was observed in normal as well as in malformed vertebrae (e.g., hemivertebrae). Findings from the current study introduced descriptions of VVCD that can be used as background for future studies.

Association between intra-operative hemodynamic changes and corrective procedures during posterior spinal fusion in adolescent patients with scoliosis: A case-control study.

ABSTRACT: Previous reports indicated that a decrease in intra-operative cardiac output and mean arterial pressure occurs due to thoracic cage deformities when patients with scoliosis are placed in the prone position. The aims of this study were to investigate the occurrence of hypotension during posterior spinal fusion in adolescent patients with scoliosis, and the association between hypotension, surgical procedures, changes of thoracic cage morphology.This retrospective, single-center, case-control study included 106 patients who underwent surgeries for spinal deformity at our institute between June 2014 and March 2020. The inclusion criteria were: age ≤19 years at the time of surgery, lowest instrumented vertebra over L5, posterior spinal fusion as the first surgery for scoliosis, and no severe cardiac or pulmonary disease pre-operatively. Finally, 49 patients met the criteria, and were divided to 3 groups as follows: thoracic constructive curve using a 6.0-mm cobalt-chromium alloy circular rod (T-C group; n = 28); thoracolumbar/lumbar constructive curve using a 6.0-mm cobalt-chromium alloy circular rod (L-C group; n = 8); and thoracic constructive curve using a 5.5-mm cobalt-chromium alloy beam-like rod (T-B group; n = 13). The beam-like rod is characteristic as the rod is mounted to screw heads without cantilever force. Intra-operative changes in circulation associated with corrective procedures, perioperative data, and sagittal depth and sternum deviation of thoracic cage were compared between the 3 groups.The T-C group had a higher rate of hypotension alarm than did the other groups (7 vs 0 vs 0; P = .047). Corrective procedures included rodding 4 times, rod rotation maneuver once, and direct vertebral rotation twice. Blood pressure was increased by pausing the correction procedures, increasing infusion, and administering vasopressors. The T-C and T-B groups had greater sternum deviation parameters than the L-C group, both before and after surgery. All parameters associated with sagittal depth and sternum deviation decreased significantly after surgery in the T-C and the T-B groups.In corrective surgery for constructive thoracic scoliosis, the corrective procedures requiring the application of compression force in the forward direction should be closely monitored in view of their possible influence on circulatory conditions.

Transitional vertebrae and numerical variants of the spine : prevalence and relationship to low back pain or degenerative spondylolisthesis.

AIMS: Although lumbosacral transitional vertebrae (LSTV) are well-documented, few large-scale studies have investigated thoracolumbar transitional vertebrae (TLTV) and spinal numerical variants. This study sought to establish the prevalence of numerical variants and to evaluate their relationship with clinical problems. METHODS: A total of 1,179 patients who had undergone thoracic, abdominal, and pelvic CT scanning were divided into groups according to the number of thoracic and lumbar vertebrae, and the presence or absence of TLTV or LSTV. The prevalence of spinal anomalies was noted. The relationship of spinal anomalies to clinical symptoms (low back pain, Japanese Orthopaedic Association score, Roland-Morris Disability Questionnaire) and degenerative spondylolisthesis (DS) was also investigated. RESULTS: Normal vertebral morphology (12 thoracic and five lumbar vertebrae without TLTV and LSTV) was present in 531 male (76.7%) and 369 female patients (75.8%). Thoracolumbar transitional vertebrae were present in 15.8% of males and 16.0% of females. LSTV were present in 7.1% of males and 9.0% of females. The prevalence of the anomaly of 16 presacral mobile vertebrae (total number of thoracolumbar vertebrae and TLTV) without LSTV was 1.0% in males and 4.1% in females, and that of the anomaly of 18 vertebrae without LSTV was 5.3% in males and 1.2% in females. The prevalence of DS was significantly higher in females with a total of 16 vertebrae than in those with normal morphology. There was no significant correlation between a spinal anomaly and clinical symptoms. CONCLUSION: Overall, 24% of subjects had anomalies in the thoracolumbar region: the type of anomaly differed between males and females, which could have significant implications for spinal surgery. A decreased number of vertebrae was associated with DS: numerical variants may potentially be a clinical problem. Cite this article: Bone Joint J 2021;103-B(7):1301-1308.

Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome.

Spondylocarpotarsal synostosis syndrome (SCT) is characterized by vertebral fusions, a disproportionately short stature, and synostosis of carpal and tarsal bones. Pathogenic variants in FLNB, MYH3, and possibly in RFLNA, have been reported to be responsible for this condition. Here, we present two unrelated individuals presenting with features typical of SCT in which Sanger sequencing combined with whole genome sequencing identified novel, homozygous intragenic deletions in FLNB (c.1346-1372_1941+389del and c.3127-353_4223-1836del). Both deletions remove several consecutive exons and are predicted to result in a frameshift. To our knowledge, this is the first time that large structural variants in FLNB have been reported in SCT, and thus our findings add to the classes of variation that can lead to this disorder. These cases highlight the need for copy number sensitive methods to be utilized in order to be comprehensive in the search for a molecular diagnosis in individuals with a clinical diagnosis of SCT.