Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant.

We herein report a case with a novel homozygous variant in the kyphoscoliosis peptidase (KY) gene. A 58-year-old Japanese female was referred to our hospital with a gait disturbance that gradually worsened after the age of 50. She had bilateral equinus foot deformity since early childhood. Neurological examination revealed moderate weakness of the neck, trunk, femoral, and brachial muscles, mild respiratory failure, and areflexia. Whole-exome sequencing revealed a novel homozygous frameshift variant of the KY gene, NM_178554.6:c.824del p.(Glu275Glyfs*53). Our case demonstrated that KY-associated neuromuscular disease can present with extremely slow progressive muscle weakness and respiratory failure over a long natural course.

EOS® is reliable to evaluate spinopelvic parameters: a validation study.

BACKGROUND: Sagittal and coronal standing radiographs have been the standard imaging for assessing spinal alignment. However, their disadvantages include distortion at the image edges and low interobserver reliability in some parameters. EOS® is a low-dose biplanar digital radiographic imaging system that can avoid distortion by obtaining high-definition images. METHODS: This study aimed to evaluate spinopelvic parameters in conventional lateral C1S1 upright radiographs and EOS® images and compare them. Patients with non-deformity changes were subjected to routine clinical examinations. Plain AP and lateral X-ray radiographs were obtained along the entire spine length. Patients were also referred for full-length EOS® of the spine. Thoracic Kyphosis (TK), Lumbar Lordosis (LL), Pelvic Tilt (PT), Sacral Slope (SS), Pelvic Incidence (PI), and Sagittal Vertical Axis (SVA) were measured in the two studies by an orthopedic surgeon and a radiologist using PACS software. Also, the orthopedic surgeon evaluated the studies again after two weeks. Intra- and inter-observer reliability was then assessed using the interclass correlation coefficient (ICC). Also, the coefficient of variation was used to assess intra- and inter-observer reliability. Bland-Altman plots were drawn for each parameter. RESULTS: The mean age was 48.2 ± 6.6 years. Among the 50 patients, 30 (60%) were female. The mean ICC for TK, LL, PT, SS, PI, and SVA in EOS® images are 0.95, 0.95, 0.92, 0.90, 0.94, and 0.98, respectively, and in C1S1 radiography images, it was 0.92, 0.87, 0.94, 0.88, 0.93, and 0.98, respectively which shows good to excellent results. The coefficient of variation for intraobserver reliability was relatively low (< 18.6%), while it showed higher percentages in evaluating interobserver reliability (< 54.5%). Also, the Bland-Altman plot showed good agreement for each parameter. CONCLUSION: Spinopelvic parameters, e.g., TK, LL, SS, PI, and SS, in EOS® are reliable and comparable to those in conventional lateral upright C1S1 radiographs.

Effects of telerehabilitation-based respiratory and corrective exercises among the elderly with thoracic hyper-kyphosis: a clinical trial.

BACKGROUND: Aging is associated with changes in the musculoskeletal system, including increased susceptibility to spine malalignments. Utilizing corrective exercises with a therapeutic emphasis can be beneficial in the elderly with thoracic spine hyperkyphosis. OBJECTIVE: This study aimed to investigate the effects of six weeks of telerehabilitation-based respiratory and corrective exercises on quality of life, disability, thoracic kyphosis, craniovertebral angle, shoulder angle, cranial angle, and chest expansion in the elderly with thoracic spine hyperkyphosis. METHODS: In this clinical trial, a total of 40 participants aged 60 and above with thoracic hyperkyphosis were randomly divided into the control (N = 20) and experimental (N = 20) groups. The experimental group performed the corrective exercises for six weeks (3 sessions per week). The control group performed general stretching exercises during the same time period. We measured the outcomes of quality of life, disability, thoracic kyphosis, craniovertebral angle, shoulder angle, cranial angle, and lung expansion before and after the intervention. Analysis of covariance (ANCOVA) was employed to analyze the data. A P-value ≤ 0.05 was considered statistically significant. RESULTS: Quality of life (P < 0.001, Effect Size (ES): 0.44), chest expansion (P < 0.001, ES: 0.56), thoracic kyphosis angle (P < 0.001, ES: 0.31), craniovertebral (P < 0.001, ES: 0.33), cranial (P < 0.001, ES: 0.38), and shoulder (P = 0.005, ES: 0.20) angles were significantly improved in the experimental group as compared with controls. However, no statistically significant difference was observed between the two groups in terms of physical ability (P = 0.251, ES: 0.04). CONCLUSION: It is therefore recommended that online corrective exercises be used in the rehabilitation protocol to improve the quality of life, posture, chest expansion, and disability in the elderly with thoracic kyphosis.

Cervical kyphosis correction in Marfan syndrome: our experience and literature review.

BACKGROUND: Spinal deformities are common in Marfan syndrome (MFS). They usually involve the thoraco-lumbar spine but rarely involves the cervical spine. Kyphosis is the common spine deformity of the cervical spine and mandates surgical correction as they are at risk of neurological deterioration since they are refractory to conservative management. Few studies of surgical correction of spine deformity included cervical deformity. OBJECTIVES: To analyze the challenges faced during surgery, clinical and radiological outcome, and complications following surgical correction for cervical kyphosis in Marfan syndrome. METHODS: We identified that 5 patients with a diagnosis of MFS with cervical kyphosis who underwent fusion surgery between the years 2010 and 2022 were reviewed, retrospectively. We analyzed the demographic details, radiological parameters, operative variables (blood loss and nuances), perioperative complications, length of stay, clinical and radiological outcome, and complications following fusion surgery for cervical kyphosis in MFS. RESULTS: The mean age of patients was 16.6 ± 4.72 years (range, 12-23 years). The average kyphotic vertebra involved is 3 ± 0.7 bodies (range 2-4) with 2 patients with thoracic deformity. All patients underwent surgical deformity correction. All patients improved clinically with Nurick grade (pre vs. post: 3.4 vs. 2.2) and mJOA (pre vs. post: 8.2 vs. 12.6). There was significant deformity correction from 37.48° to 9.1°. Mean blood loss encountered was 900 ± 173.2 ml. Perioperative complications: wound complication with CSF leak (1). Late complications: ventilator dependence (1) and junctional kyphosis (1). Mean length of hospital stay was 103 ± 178.9 days. All patients were doing symptomatically better after mean follow-up of 58 ± 28.32 months. One patient is bedridden and hospitalized. CONCLUSION: Cervical kyphosis is a rare spine deformity in patients with MFS, and they usually present with neurological deterioration mandating surgical correction. Multidisciplinary approach (pediatrics, genetics and cardiology) is required for systematic evaluation of these patients. They should be evaluated with necessary imaging to rule out associated spinal deformity (atlanto-axial subluxation, scoliosis, and intraspinal pathology like ductal ectasia). Our results suggest better surgical outcome in terms of low operative complications with neurologic improvement in MFS patients. These patients require regular follow-up to identify late complications (instrument failure, non-union, and pseudarthrosis).

Surgical limits, pitfalls, and potential solutions in kyphectomy in myelomeningocele: three cases and systematic review of the literature.

OBJECTIVES: To describe surgical treatment of 3 cases of severe and progressive thoracolumbar kyphosis in myelomeningocele and provide a systematic review of the available literature on the topic. METHODS: Medical records and pre- and post-operative imaging of 3 patients with thoracolumbar kyphosis and myelomeningocele were reviewed. A database search was performed for all manuscripts published on kyphectomy and/or surgical treatment of kyphosis in myelomeningocele. Patients' information, preoperative kyphosis angle, type of surgery, levels of surgery degrees of correction after surgery and at follow-up, and complications were reviewed for the included studies. RESULTS: Three cases underwent posterior vertebral column resection (pVCR) of 2-4 segments at the apex of the kyphosis (kyphectomy). Long instrumentation was performed with all pedicle screws constructed from the thoracic spine to the pelvis using iliac screws. According to literature review, a total of 586 children were treated for vertebral kyphosis related to myelomeningocele. At least one vertebra was excised to gain some degree of correction of the deformity. Different types of instrumentation were used over time and none of them demonstrated to be superior over the other. CONCLUSION: Surgical treatment of progressive kyphosis in myelomeningocele has evolved over the years incorporating all major advances in spinal instrumentation techniques. Certainly, the best results in terms of preservation of correction after surgery and less revision rates were obtained with long construct and screws. However, complication rate remains high with skin problems being the most common complication. The use of low-profile instrumentation remains critical for treatment of these patients.

Adult spinal deformity correction surgery using age-adjusted alignment thresholds: clinical outcomes and mechanical complication rates. A systematic review of the literature.

PURPOSE: Adult spinal deformity (ASD) surgery gives good clinical outcomes but has a high rate of mechanical complications (MC). In 2016, Lafage described the age-adjusted alignment thresholds (AAAT) to adapt the correction in relation to patient's age proposing less aggressive corrections for the elderly population. The aim of this review was to clarify the effectiveness of AAAT to achieve good health-related quality of life (HRQoL) and their relationship with post-operative MC. MATERIALS AND METHODS: We performed a review of the literature, including articles reporting data on post-operative HRQoL and MC rates in relation to the AAAT. Data were stratified according to whether they matched the AAAT, dividing the population in undercorrected (U), matched (M) and overcorrected (O). The quality of the included studies was assessed using the GRADE and MINORS systems. RESULTS: Six articles reporting data from 1,825 patients were included. The different categories (U, M and O) had homogeneous pre-operative sagittal parameters (p > 0.05) that became statistically different after surgeries (p < 0.05). Proximal junctional kyphosis (PJK) was more frequent in the O group compared to U (p = 0.05). Post-operative HRQoL parameters were similar in the 3 groups (p > 0.05). The quality of the included studies was generally low with a high bias risk. CONCLUSION: The results extrapolated from this review are interesting, as for the same HRQoL the U group had a lower MC rate. Unfortunately, the results are inconsistent, mainly because of the low quality of the included studies and the lack of reporting of some important patient- and surgery-related factors.

Polymethyl methacrylate augmentation and proximal junctional kyphosis in adult spinal deformity patients.

BACKGROUND: Proximal junctional kyphosis (PJK) is a complication following surgery for adult spinal deformity (ASD) possibly ameliorated by polymethyl methacrylate (PMMA) vertebroplasty of the upper instrumented vertebrae (UIV). This study quantifies PJK following surgical correction bridging the thoracolumbar junction ± PMMA vertebroplasty. METHODS: ASD patients from 2013 to 2020 were retrospectively reviewed and included with immediate postoperative radiographs and at least one follow-up radiograph. PMMA vertebroplasty at the UIV and UIV + 1 was performed at the surgeons' discretion. RESULTS: Of 102 patients, 56% received PMMA. PMMA patients were older (70 ± 8 vs. 66 ± 10, p = 0.021), more often female (89.3% vs. 68.2%, p = 0.005), and had more osteoporosis (26.8% vs. 9.1%, p = 0.013). 55.4% of PMMA patients developed PJK compared to 38.6% of controls (p = 0.097), and the rate of PJK development was not different between groups in univariate survival models. There was no difference in PJF (p > 0.084). Reoperation rates were 7.1% in PMMA versus 11.4% in controls (p = 0.501). In multivariable models, PJK development was not associated with the use of PMMA vertebroplasty (HR 0.77, 95% CI 0.38-1.60, p = 0.470), either when considered overall in the cohort or specifically in those with poor bone quality. PJK was significantly predicted by poor bone quality irrespective of PMMA use (HR 3.81, p < 0.001). CONCLUSIONS: In thoracolumbar fusions for adult spinal deformity, PMMA vertebroplasty was not associated with reduced PJK development, which was most highly associated with poor bone quality. Preoperative screening and management for osteoporosis is critical in achieving an optimal outcome for these complex operations. LEVEL OF EVIDENCE: 4, retrospective non-randomized case review.

Usefulness of the preoperative thoracic inlet angle in comparison to the T1 slope for predicting cervical kyphosis after laminoplasty.

PURPOSE: Thoracic inlet angle (TIA) is a sagittal radiographic parameter with a constant value regardless of posture and is significantly correlated with the sagittal balance of the cervical spine. However, the practical use of TIA has not been studied. This study aimed to investigate the usefulness of the preoperative TIA for predicting the development of kyphotic deformity after cervical laminoplasty in comparison to the preoperative T1 slope (T1S). METHODS: A total of 98 patients who underwent cervical laminoplasty without preoperative kyphotic alignment were included (mean age, 73.7 years; 41.8% female). Radiography was evaluated before surgery and at the 2-year follow-up examination. The cervical sagittal parameters were measured on standing radiographs, and the TIA was measured on T2-weighted MRI in a supine position. Cervical alignment with a C2-C7 angle of ≥ 0° was defined as lordosis, and that with an angle of < 0° was defined as kyphosis. RESULTS: Postoperative kyphosis occurred in 11 patients (11.2%). Preoperatively, the kyphosis group showed significantly lower values in the T1S (23.5° vs. 30.3°, p = 0.034) and TIA (76.1° vs. 81.8°, p = 0.042). We performed ROC curve analysis to clarify the impact of the preoperative TIA and T1S on kyphotic deformity after laminoplasty. The optimal cutoff angles for TIA and T1S were 68° and 19°, respectively, with similar diagnostic accuracy. CONCLUSION: This study demonstrated the clinical utility of the preoperative TIA for predicting the risk of postoperative kyphotic deformity after cervical laminoplasty. These findings suggest the importance of the preoperative assessment of thoracic inlet alignment in cervical spine surgery.

The effect of Providence night-time bracing on the sagittal profile in adolescent idiopathic scoliosis.

PURPOSE: Adolescent idiopathic scoliosis (AIS) is characterized by coronal scoliosis and often a sagittal hypokyphosis. The effect of bracing on the sagittal profile is not well understood. The aim of this study is to assess the effect of night-time bracing on the sagittal profile in patients with AIS. METHODS: We retrospectively included AIS patients with a main curve of 25-45° treated with a night-time brace in our institution between 2005 and 2018. Patients with estimated growth potential based on either Risser stage, hand X-rays, or menarchal status were included. Coronal and sagittal radiographic parameters were recorded at both brace- initiation and -termination. Patients were followed until surgery or one year after brace termination. Results were compared to a published cohort of full-time braced patients. RESULTS: One hundred forty-six patients were included. Maximum thoracic kyphosis (TK) increased 2.5° (± 9.7) (p = 0.003), corresponding to a 3.5-fold relative risk increase post bracing in TK compared to a full-time brace cohort. Twenty-seven percent (n = 36) of the patients were hypokyphotic (T4/T12 < 20°) at brace initiation compared with 19% (n = 26) at brace termination (p = 0.134). All other sagittal parameters remained the same at follow-up. We found no association between progression in the coronal plane and change in sagittal parameters. CONCLUSION: This is the first study to indicate that night-time bracing of AIS does not induce hypokyphosis. We found a small increase in TK, with a substantially lower risk of developing flat back deformity compared to full-time bracing. The coronal curve progression was not coupled to a change in TK.

Simplified S1 vertebral bone quality (vbq) score to assess proximal junctional kyphosis after Lenke 5 adolescent idiopathic scoliosis surgery.

BACKGROUND: Proximal junctional kyphosis (PJK) is a common complication following corrective surgery for adolescent idiopathic scoliosis (AIS) with a Lenke 5 curve. Previous studies have suggested that PJK may be associated with osteopenia, which is prevalent in AIS patients. MRI-based vertebral bone quality (VBQ) scores have been proposed as a valuable tool to assess preoperative bone quality. However, accurately measuring VBQ scores in Lenke 5 AIS patients with a structural lumbar curve can be challenging. Recently, a simplified S1 VBQ score has been proposed as an alternative method when the traditional VBQ score is not applicable. This study aims to evaluate the predictive value of the simplified S1 VBQ score in predicting the occurrence of PJK after corrective surgery for Lenke 5 AIS. METHODS: We conducted a retrospective analysis of patient data to assess the predictive utility of the S1 VBQ score for PJK in Lenke 5 AIS patients. Demographic, radiographic, and surgical data were collected, and S1 VBQ scores were calculated based on preoperative T1-weighted MRI images. Univariate analysis, linear regression, and multivariate logistic regression were performed to identify potential risk factors for PJK and to assess the correlation between other variables and the S1 VBQ score. Receiver operating characteristic analysis and area under the curve values were used to evaluate the predictive efficiency of the S1 VBQ score for PJK. RESULTS: A total of 105 patients (aged 15.50 ± 2.36 years) were included in the analysis, of whom 24 (22.9%) developed PJK. S1 VBQ scores were significantly higher in the PJK group compared to the non-PJK group (2.83 ± 0.44 vs. 2.48 ± 0.30, P < 0.001), and there was a significant positive correlation between the S1 VBQ score and proximal junctional angle (PJA) (r = 0.46, P < 0.0001). Multivariate analysis revealed that the S1 VBQ scores and preoperative thoracic kyphosis (TK) were significant predictors of PJK. CONCLUSION: This study provided evidence that higher S1 VBQ scores were independently associated with PJK occurrence following corrective surgery for Lenke 5 AIS. Preoperative measurement of the S1 VBQ score on MRI may serve as a valuable tool in planning surgical correction for Lenke 5 AIS.