[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.

Anatomy of mamillo-accessory foramen and prevalence of ossified mamillo-accessory ligament in lumbar vertebrae related to age.

PURPOSE: Ossification of the mamillo-accessory ligament (MAL) results in the formation of a mamillo-accessory foramen (MAF), which is associated with aging. The MAL tethers the medial branches of the lumbar dorsal rami to the lumbar vertebrae. A MAL ossified at the lumbar vertebrae can cause low back pain by compressing the medial branch of a dorsal ramus. Age ranges related to ossification of the MAL have not been reported in previous studies. The objective of the present study was to determine the prevalence of ossification of the MAL in the lumbar column and its relationship to aging, and to measure the newly formed MAF at each level of the lumbar vertebrae. METHODS: This study examined 935 dried lumbar vertebrae from 187 donors at Khon Kaen University, Thailand, consisting of 93 females and 94 males. The research focused on ossification patterns of the MAL, categorizing them into three patterns. RESULTS: We found that over 50% of ossified MAL occurred in the 30-45-year-old range and the frequency increased with age. The prevalence of ossified lumbar MAL was 72.73%, especially in L5 on the left side in females (76.92%). The width of the MAF did not differ significantly between the sexes, but it was greater on the left side (2.46 ± 1.08; n = 76) than the right (2.05 ± 0.95; n = 72) (p = 0.016). CONCLUSION: Ossification of the MAL into the MAF progresses with age, leading to low back pain from nerve compression. Physicians should be aware of the MAF during anesthesia block to treat low back pain.

Analysis of spinopelvic parameters in adult patients with lumbosacral transitional vertebrae.

PURPOSE: Spinopelvic sagittal alignment is crucial for assessing balance and determining treatment efficacy in patients with adult spinal deformity (ASD). Only a limited number of reports have addressed spinopelvic parameters and lumbosacral transitional vertebrae (LSTV). Our primary objective was to study spinopelvic sagittal parameter changes in patients with LSTV. A secondary objective was to investigate clinical symptoms and quality of life (QOL) in patients with LSTV. METHODS: In this study, we investigated 371 participants who had undergone medical check-ups for the spine. LSTV was evaluated using Castellvi's classification, and patients were divided into LSTV+ (type II-IV, L5 vertebra articulated or fused with the sacrum) and LSTV- groups. After propensity score matching for demographic data, we analyzed spinopelvic parameters, sacroiliac joint degeneration, clinical symptoms, and QOL for these two participant groups. Oswestry Disability Index (ODI) scores and EQ-5D (EuroQol 5 dimensions) indices were compared between the two groups. RESULTS: Forty-four patients each were analyzed in the LSTV + and LSTV- groups. The LSTV + group had significantly greater pelvic incidence (52.1 ± 11.2 vs. 47.8 ± 10.0 degrees, P = 0.031) and shorter pelvic thickness (10.2 ± 0.9 vs. 10.7 ± 0.8 cm, P = 0.018) compared to the LSTV- group. The "Sitting" domain of ODI (1.1 ± 0.9 vs. 0.6 ± 0.7, P = 0.011) and "Pain/Discomfort" domain of EQ-5D (2.0 ± 0.8 vs. 1.6 ± 0.7, P = 0.005) were larger in the LSTV + group. CONCLUSION: There was a robust association between LSTV and pelvic sagittal parameters. Clinical symptoms also differed between the two groups in some domains. Surgeons should be aware of the relationship between LSTV assessment, radiographic parameters and clinical symptoms.

Classification of the Congenital Defect of the Lumbar Facet Joint: Case Report and Literature Review.

BACKGROUND: Congenital lumbar facet joint defect is a rare congenital developmental disorder with only a few reported cases in the literature, primarily affecting the L5-S1 segments. This study reports the first case of a defect in the left L3 inferior articular process; and presents a review of the existing literature on the subject, proposes a classification system, and validates the inter-observer and intra-observer reliability of this classification system. CASE PRESENTATION: A 14-year-old boy presented to our orthopedic clinic with persistent lower back pain for 1 month. Imaging analysis, including CT scans, 3D reconstruction, and MRI, revealed a congenital lumbar facet joint defect at the L3 level, which has not been reported. Conservative treatment resulted in a significant improvement in his symptoms, and he is currently under follow-up care. CONCLUSION: Congenital defect of the lumbar facet joint is a rare spinal condition. This article reports the first patient with a defect in the left L3 inferior articular process and conducts a comprehensive literature review, proposing a classification of articular process defects into five types. The two most common types are Types B and C. We have demonstrated that this system is reliable and reproducible and have described the treatment of each type.

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.

Risks Associated with Surgical Management of Lumbosacral Transitional Vertebrae: Systematic Review of Surgical Considerations and Illustrative Case.

BACKGROUND: Lumbosacral transitional vertebrae (LSTV) are congenital anomalies of the L5-S1 segments characterized by either sacralization of the most caudal lumbar vertebra or lumbarization of the most cephalad sacral vertebra. This variation in anatomy exposes patients to additional surgical risks. METHODS: In order to shed light on surgical considerations reported for lumbar spine cases involving LSTV as described in the extant literature, we performed a systematic review in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines. We also present a case example in which wrong level surgery was avoided due to anatomical understanding of LSTV. RESULTS: A 48-year-old female presented with severe back pain after sustaining a fall from ten feet. The patient exhibited full motor function in all extremities but had begun to experience urinary retention. On initial imaging read, the patient was suspected to have an L1 burst fracture. A review of the imaging demonstrated a transitional vertebra. Therefore, based on the last rib corresponding to T12, the fractured level was L2. This case illustrates the risk LSTV carries for wrong site surgery; appropriate levels were then decompressed and instrumented. On systematic review of the literature according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines, a three database literature search identified 39 studies describing 885 patients with LSTV and relevant surgical considerations. The primary indications for surgery were for disc herniation (37%), Bertolotti's syndrome (35%), and spinal stenosis (25%). This cohort displayed a mean follow-up time of 23 months. Reherniation occurred in 12 patients (5.5%). Medical management through steroid injection was 24, 72% (n = 80) for the sample. Wrong level surgery occurred in 1.4% (n = 12) of patients. CONCLUSIONS: LSTV represents a constellation of changes in anatomy beyond just a sacralized or lumbarized vertebra. These anatomical differences expose the patient to additional surgical risks. This case and review of the literature highlight avoidable complications and in particular wrong level surgery.

Congenital Stenosis of the Spine-A Cross-Sectional Study of 1019 Whole-Spine Computed Tomography Scans to Determine Prevalence and Association Among Multilevel, Tandem, and Triple Region Stenosis.

BACKGOUND: Patients with congenital stenosis of the spine (CSS) present with clinical symptoms at an early age and fewer degenerative hypertrophic changes than the more common degenerative cohort. Literature is lacking in the true prevalence of CSS affecting the 3 segments of the spine in isolation, as well as in tandem in the Indian subcontinent. METHODS: Anteroposterior spinal canal diameter in axial plane computed tomography at the midvertebral level was measured in asymptomatic patients with whole-spine computed tomography. Spinal canal stenosis was defined as a diameter of <12 mm for the cervical region, <12 mm for the thoracic region, and <13 mm for the lumbar region. Single-level and multilevel stenosis, as well as tandem and triple-region stenosis, were evaluated. RESULTS: The results show the prevalence of CSS as 16.6%, 11.5%, and 20.1% involving the cervical, thoracic, and lumbar spine, respectively. Single-level stenosis affected 90.6%, 94%, and 79.8% of the patients with cervical, thoracic, and lumbar CSS, respectively. Tandem stenosis affected 10.4% of the population (n = 104), with cervicolumbar stenosis being the most prevalent (n = 51, 5%). The presence of CSS in any one segment of the spine was significantly associated with the presence of stenosis at one of the other segments (P < 0.05). Triple-region stenosis was seen in 0.3% (n = 3) patients. CONCLUSIONS: The prevalence of cervical, thoracic, lumbar and tandem stenosis from our study is established at 16.6%, 11.5%, 20.1%, and 10.4%. Additionally, our study demonstrates the association between stenosis of the different regions of the spine.

Lumbosacral transitional vertebra in 14 dog breeds in Norway: Occurrence, risk factors and association with hip dysplasia.

A lumbosacral transitional vertebra (LTV) is a congenital anomaly of the spine and has been suggested to predispose to canine hip dysplasia (CHD). This retrospective, cross-sectional study investigated the prevalence of LTV and CHD among 14 dog breeds in Norway, the possible associations with risk factors, and whether LTV was a risk factor for the development of hip dysplasia. The results were based on evaluation of ventrodorsal radiographs from the CHD screening program from the Norwegian Kennel Club from February 2014 to January 2022. A total of 13,950 dogs were included in the study. For statistical analysis, CHD grades were reclassified from the official Federation Cynologique Internationale (FCI) grades into three grades: CHD free (CHD=A, B), CHD mild (CHD=C), and CHD severe (CHD=D, E). In the study sample, the overall occurrence of LTV was 18.5%, of which 32.9% were type 1, 45.7% type 2% and 21.4% type 3. The occurrence of LTV varied significantly among the included breeds, ranging from 9.5% to 46.2%. There was no association between sex and LTV. The frequencies of CHD grades were A: 43.1%; B: 31.4%; C: 18.4%; D: 6.0%; E: 1.1%. There was a statistically significant association with mild and severe CHD in dogs with LTV type 2 and LTV type 3 (P< 0.001). In the population studied, the prevalence of LTV was different among breeds. This supports initial data on the heredity of LTV and the diverse occurrence of LTV among breeds. Our results indicate that LTV type 2 and type 3 are associated with mild and severe CHD development. Therefore, this study has potentially identified an additional risk factor for the development of hip dysplasia.

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.

Lumbosacral transitional vertebrae: prevalence in a southern European population and its association with low back pain.

PURPOSE: Lumbosacral transitional vertebra (LSTV) is a congenital anomaly of the lumbosacral junction. Its prevalence is variable in the literature such as its association with low back pain. The aim of this study was to identify the prevalence of LSTV in a southern European population, and its correlation with low back pain. METHODS: A retrospective review of 639 thoraco-abdomino-pelvic consecutive CT-scans between January 2019 and November 2020 was performed. The presence of LSTV was classified into type II, III, IV based on Castellvi's classification. To investigate the association with low back pain, Oswestry Low Back Disability Questionnaire (ODI) and the EuroQol-5D-3L questionnaire was applied. RESULTS: The prevalence of LSTV was 24.9% (142 of 571). 37,3% were type IIb, 31,0% were type IIa, 13,4% were type IIIa, 9.9% were type IIIb and 8.5% were type IV. Individuals with LSTV were more likely to report low back pain and have a higher ODI score (OR:0.392, 95% CI:0.192-0.802, p = 0.010), (OR: 1050, 95% CI: 1029-1072, p < 0.01). Castellvi's type IV showed a significantly higher ODI when compared to type II (OR:1059, 95% CI:1019-1100, p = 0,04). There was no statistical difference in the EuroQol-5D-3L score between two groups (OR:1085, 95% CI: 0.459-2.560, p = 0.852). CONCLUSION: This population-based study adds to the literature the prevalence of LSTV in a southern European population. LSTV was associated with low back pain. However, this difference did not translate into a loss of quality life. Type IV was associated with higher functional disability when compared with type II.

Thoracolumbar stenosis and neurologic symptoms: Quantitative MRI in achondroplasia.

BACKGROUND AND PURPOSE: Whole-spine magnetic resonance imaging (MRI) studies, to identify structural abnormalities associated with the development of symptomatic spinal stenosis in achondroplasia. METHODS: Forty-two subjects with achondroplasia were grouped into four age-related categories. Congenital spinal deformities (vertebral body and disc height, interpedicular distance), acquired spinal degenerative changes, thoracic kyphotic (TK) angle, thoracolumbar kyphotic (TLK) angle, spinal canal widths were evaluated by MRI. RESULTS: Patients in the first three groups were asymptomatic and younger (group 1: 4.4 ± 0.78 years; group 2: 8.18 ± 0.60 years; group 3: 10.95 ± 0.93 years) than the symptomatic group (group 4: 23 ± 1.30 years). Patients showed height of vertebral bodies, whole canal width, and average lumbar interpedicular distance reduced. Discs degeneration was more pronounced in the lumbar region and in symptomatic adult patients. TK and TLK angles showed a positive correlation with age (p < .05, r = .42; p < .05, r = .41), whereas thoracic and thoracolumbar canal width had a negative correlation (p < .05, r = -.69; p < .05, r = -.58). A negative correlation between lumbar discs degeneration and canal width was found only at L1-L3 level (p < .05, r = -.35). At L1-L3, the canal width cutoff value of .59 allowed the differentiation between asymptomatic and symptomatic patients (area under the curve of .966, p < .0001). CONCLUSION: In achondroplasia, the spinal canal narrowing, due to accelerated degenerative changes, is a predisposing factor of symptomatic lumbar spinal stenosis. Lumbar canal MRI is a helpful tool to detect the risk of the development of neurological symptoms; in adult patients, a stenosis higher than 60% of upper lumbar canal could be a critical value for the onset of neurological symptoms.

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.

Association of spinal anomalies with spondylolysis and spina bifida occulta.

PURPOSE: To investigate the association of spinal anomalies with lumbar spondylolysis and spina bifida occulta (SBO). METHODS: A total of 1190 patients with thoracic, abdominal, and pelvic computed tomography scans available were categorized according to the number of presacral (thoracic and lumbar) mobile vertebrae and the presence or absence of lumbosacral transitional vertebrae (LSTV). The prevalence of spondylolysis and SBO and the association of spinal anomalies with these disorders were evaluated. RESULTS: Normal morphology (17 mobile vertebra with no LSTV) was found in 607 men (86.5%) and 419 women (85.9%) and about 14% of patients had anomalies. Spondylolysis was found in 74 patients (6.2%), comprising 54 men (7.7%) and 20 women (4.1%). SBO involving the lumbar spine was found in 9 men (1.3%) and 2 women (0.4%). Spondylolysis was significantly more common in men with 18 vertebrae without LSTV (21.1%) than in those with 17 vertebrae without LSTV (7.2%) (p = 0.002). The prevalence of spinal anomalies was 55.6% in men and 50.0% in women with SBO that included a lumbar level was significantly higher than in both men (13.5%, p < 0.001) and women (4.8%, p = 0.003) without SBO. CONCLUSION: These findings indicate that there is a relationship between spinal anomalies and both spondylolysis and SBO, which may lead to elucidation of the mechanism of onset of spondylolysis and improve its treatment and prognosis. Awareness that patients with SBO involving the lumbar spine have an increased likelihood of a spinal anomaly may help to prevent level errors during spinal surgery.

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.

A novel minimally invasive technique of inter-spinal distraction fusion surgery for single-level lumbar spinal stenosis in octogenarians: a retrospective cohort study.

OBJECTIVE: Surgical treatment of lumbar spinal stenosis (LSS) in octogenarians (patients aged ≥ 80 years) has been a challenge. Inter-spinal distraction fusion (ISDF)-a minimally invasive procedure-was used for treating LSS in octogenarians. This retrospective cohort study aimed to investigate the clinical efficacy and safety of a minimally invasive ISDF technique for LSS in octogenarian patients. METHODS: From April 2015 to April 2019, octogenarian patients who underwent lumbar fusion surgery due to single-segment LSS were included. The patients were grouped into the ISDF group and posterior lumbar interbody fusion (PLIF) group based on the type of surgery. Clinical outcomes were evaluated using scores of the visual analog pain scale (VAS), Oswestry Disability Index (ODI), and Japanese Orthopedics Association (JOA) scale. Radiographs were assessed for the intervertebral angle (IA), lumbar lordosis (LL), and posterior disc height (PDH). After 2 years postoperatively, all patients underwent computed tomography (CT) to evaluate the fusion condition. Perioperative data and related complications were recorded. RESULTS: Sixty-two patients were included (mean age: 82.22 ± 1.95 years). The ISDF and the PLIF groups had 34 and 28 patients, respectively. The average follow-up time was 2.1 ± 0.25 years. There was no significant difference in VAS, ODI, JOA, and PDH scores between both groups preoperatively and at each postoperative time-point. The IA and LL showed significant differences between both groups after surgery (p < 0.05). The postoperative IA in the ISDF group were significantly lower than the preoperative values, while that in the PLIF group were markedly increased. The PLIF group had an increased LL compared with that preoperatively (p < 0.05), while the LL in the ISDF did not significantly change. The operative time, blood loss, hospital stay time, and the rate of perioperative complications of the ISDF group were significantly lower than those of the PLIF group (p < 0.05). There was no significant difference in the fusion rates between both groups. CONCLUSION: ISDF surgery is a viable method for octogenarian patients with LSS that provides a similar clinical efficacy, shorter operative time, less blood loss, shorter hospital stay time, and fewer complications, compared to the PLIF surgery.

Anterior longitudinal ligament release from a posterior approach: an alternative to three-column osteotomy.

PURPOSE: Expansion of the anterior column and compression of the posterior column restores lordosis and sagittal imbalance. Anterior longitudinal ligament (ALL) release has been described from lateral and anterior approaches as a technique to improve lumbar lordosis; however, posterior approach to release the ALL has not been adequately assessed. METHODS: We demonstrate a case series of ALL release using a posterior approach performed in conjunction with posterior column osteotomy (PCO), with or without transforaminal lumbar interbody fusion (TLIF) for spinal deformity. Eleven cases were identified from billing records between 2010 and 2019. Retrospective review was conducted for perioperative complications and revision surgery. Overall and segmental lumbar lordosis (LL) correction was measured from pre- and postoperative imaging. RESULTS: Eleven patients underwent ALL release with a PCO. Kyphosis, scoliosis, and flat back syndrome were the most common spinal deformities. On average, patients had 9 ± 3 levels fused and a single level ALL release. ALL release was most commonly performed at L1-L2 and L2-L3 levels. An overall LL correction of 28.6° ± 19.8o was achieved; ALL release introduced 16.7° ± 11.9° of lordotic correction and accounted for 49.2 ± 30.4% of the overall lordotic correction. Average blood loss was 1030 ± 573 mL. CONCLUSIONS: ALL release as an adjunct to PCO and TLIF is a viable technique for providing increased deformity correction without subjecting the patient to a more invasive three-column osteotomy. While this approach may not be appropriate for all patients, it represents a useful option in spinal deformity correction while limiting blood loss and additional anterior surgery. LEVEL OF EVIDENCE: IV.