Safety of Traditional Growing Rods in Patients with Early-Onset Congenital Scoliosis Associated with Type-I Split Cord Malformation.

BACKGROUND: Literature regarding the application of traditional growing rod (TGR) instrumentation in patients with early-onset congenital scoliosis with type-I split cord malformation is scarce. The purpose of the present study was to assess the safety and effectiveness of TGR surgery and repeated lengthening procedures in patients with congenital scoliosis with type-I split cord malformation not treated with prophylactic osseous spur excision. METHODS: Thirteen patients with early-onset congenital scoliosis associated with type-I split cord malformation and a stable neurologic status between March 2009 and July 2020 were recruited. All patients underwent primary TGR surgery and subsequent repeated lengthening procedures without osseous spur excision by the same surgical team. Clinical information and radiographic data from the preoperative, postoperative, and latest follow-up periods were collected. RESULTS: The mean preoperative Cobb angle of the major coronal curve was 74.62° ± 25.59°, the mean early postoperative angle was 40.23° ± 17.89°, and the mean latest follow-up angle was 40.62° ± 16.60°. The scoliotic deformity correction percentage was 46.81% ± 12.26% after the initial operation and 45.08% ± 15.53% at the latest follow-up. Compared with the preoperative values, significant improvements were observed in the coronal and sagittal balance early postoperatively and at the latest follow-up (p < 0.05 for all). The average annual amounts of spinal height gained were 15.73 ± 5.95 mm at T1-S1, 8.94 ± 3.94 mm at T1-T12, and 12.02 ± 6.70 mm between the instrumented segments. The total height gained at T1-S1 and T1-T12 was 72.18 ± 28.74 mm and 37.62 ± 12.53 mm, respectively. No intraoperative neurophysiological monitoring events were observed, and no case of neurological deficit was observed postoperatively or during follow-up. CONCLUSIONS: Patients without neurologic deficit and having a stable neurologic exam who have early-onset congenital scoliosis associated with type-I split cord malformation can safely and effectively undergo TGR surgery, followed by repeated lengthening procedures, without prophylactic osseous spur excision. LEVEL OF EVIDENCE: Therapeutic Level IV. See Instructions for Authors for a complete description of levels of evidence.

Comparative analysis of paraspinal muscle imbalance between idiopathic scoliosis and congenital scoliosis from the transcriptome aspect.

Background: Previous studies have analyzed paraspinal muscle imbalance in idiopathic scoliosis (IS) with methods including imaging, histology and electromyography. However, whether paraspinal muscle imbalance is the cause or the consequence of spinal deformities in IS remains unclear. Comparison of paraspinal muscle imbalance between IS and congenital scoliosis (CS) may shed some light on the causality of paraspinal muscle imbalance and IS. This study aimed to elucidate the generality and individuality of paraspinal muscle imbalance between IS and CS from gene expression. Methods: Five pairs of surgical-treated IS and CS patients were matched. Bilateral paraspinal muscles at the apex were collected for transcriptome sequencing. Differentially expressed genes (DEGs) between the convexity and concavity in both IS and CS were identified. Comparison of DEGs between IS and CS was conducted to discriminate IS-specific DEGs from DEGs shared by both IS and CS. Bioinformatics analysis was performed. The top 10 hub genes in the protein-protein interaction (PPI) network of IS-specific DEGs were validated by quantitative PCR (qPCR) in 10 pairs of IS and CS patients. Results: A total of 370 DEGs were identified in IS, whereas 380 DEGs were identified in CS. Comparison of DEGs between IS and CS identified 59 DEGs shared by IS and CS, along with 311 DEGs specific for IS. These IS-specific DEGs were enriched in response to external stimulus and signaling receptor binding in GO terms and calcium signaling pathway in KEGG pathways. The top 10 hub genes in the PPI network of IS-specific DEGs include BDKRB1, PRH1-TAS2R14, CNR2, NPY4R, HTR1E, CXCL3, ICAM1, ALB, ADIPOQ, and GCGR. Among these hub genes, the asymmetrical expression of PRH1-TAS2R14 and ADIPOQ in IS but not CS were validated by qPCR. Conclusions: Transcriptomic differences in bilateral paraspinal muscles between the convexity and concavity in IS share few similarities with those in CS.

Morphological analysis of isolated hemivertebra: radiographic manifestations related to the severity of congenital scoliosis.

PURPOSE: The natural history of congenital scoliosis (CS) caused by hemivertebra varies greatly. This study aimed to explore the association between the morphology of hemivertebra and the severity of CS, since the diagnosis of the hemivertebra. METHODS: Patients with isolated (single fully segmented) hemivertebra were enrolled. The degree and progression of deformity were compared by three morphological parameters of hemivertebra, comprising whether the width of hemivertebra extends across the central vertical line of lower adjacent vertebra (midline); the lateral height ratio (LHR, lateral height of hemivertebra× 2/(lateral height of HV-1 plus HV + 1) with the cut-point being 0.9; and the sagittal position of hemivertebra that was divided into the lateral and posterolateral group. RESULTS: In total, 156 patients (mean age 9.7 ± 6.2 years, 81 males) were enrolled. The number of thoracic, thoracolumbar (T12/13-L1), and lumbar hemivertebrae were 63, 41, and 52, respectively. Hemivertebrae across the midline had larger scoliosis and kyphosis (58.3 ± 20.6° vs. 42.8 ± 15.0°, P <  0.001; 45.1 ± 32.5° vs. 29.5 ± 25.7°, P = 0.013, respectively). Hemivertebrae with LHR ≥0.9 was associated with larger scoliosis (55.7 ± 20.6° vs. 41.4 ± 13.3°, P <  0.001). Larger scoliosis and kyphosis were observed in posterolateral hemivertebrae (54.4 ± 21.0° vs. 44.4 ± 15.6°, P = 0.026; 51.4 ± 31.5° vs. 20.6 ± 17.1°, P <  0.001, respectively). Co-occurrence of more than one of the three positive parameters above indicated higher annual progression (5.0 ± 2.2° vs. 3.3 ± 1.3°, P <  0.001). CONCLUSION: Three positive parameters, width across the midline, LHR ≥0.9, and posterolateral position were associated with a more severe deformity in patients with isolated hemivertebra. Hemivertebrae with more than one positive parameter may cause progressive deformity, and thus need prompt surgery. LEVEL OF EVIDENCE: Prognostic, level IV.

Surgical treatment of atlantoaxial dysplasia and scoliosis in spondyloepiphyseal dysplasia congenita: A case report.

BACKGROUND: Spondyloepiphyseal dysplasia congenita (SEDC) is a rare autosomal dominant hereditary disease caused by COL2A1 mutations. SEDC primarily involves the skeletal system, with typical clinical manifestations, including short stature, hip dysplasia, and spinal deformity. Due to the low incidence of SEDC, there are only a few case reports regarding the surgical treatment of SEDC complicated with spinal deformities. CASE SUMMARY: We report a case of a 16-year-old male patient with SEDC. He presented with typical short stature, atlantoaxial dysplasia, scoliosis, and hip dysplasia. Cervical magnetic resonance imaging showed spinal canal stenosis at the atlas level and cervical spinal cord compression with myelopathy. The scoliosis was a right thoracic curve with a Cobb angle of 65°. He underwent atlantoaxial reduction, decompression, and internal fixation from C1-C2 to relieve cervical myelopathy. Three months after cervical surgery, posterior correction surgery for scoliosis was performed from T3 to L4. Scoliosis was corrected from 66° to 8° and remained stable at 2-year follow-up. CONCLUSION: This is the first case report of a patient with SEDC who successfully underwent surgery for atlantoaxial dysplasia and scoliosis. The study provides an important reference for the surgical treatment of SEDC complicated with spinal deformities.

Unilateral interlaminar fenestration on the convex side provides a reliable access for intrathecal administration of nusinersen in spinal muscular atrophy: a retrospective study.

BACKGROUND: As the first gene therapy for spinal muscular atrophy (SMA), nusinersen is supposed to be administrated via intrathecal injection regularly for a lifetime. However, for SMA patients with severe spinal deformities, bony fusion following posterior spinal instrumentation sets great obstacles for the application of nusinersen. Therefore, efforts have been devoted to the exploration of appropriate approach for nusinersen administration. This study aims to evaluate the safety and reliability of unilateral interlaminar fenestration on the convex side during spinal fusion surgery for intrathecal nusinersen injection in SMA. RESULTS: SMA patients receiving posterior spinal fusion and interlaminar fenestration in Peking Union Medical College Hospital from January 2020 to October 2021 were retrospectively analyzed. 13 patients were included. Of the 13 patients, 10 were classified into SMA type II and 3 into SMA type III. Distal fusion to pelvis was undertaken in 11 patients; while L5 was selected as the lowest instrumented vertebra in the other 2 patients. All patients received interlaminar fenestration on the convex side only with an area of about 15 mm × 20 mm. Fenestration at L2-L3 level was performed in 6 patients; while L3-L4 level was selected for windowing in the remaining 7 patients. 9 of the 13 patients received lumbar puncture and intrathecal nusinersen administration during the 1-year follow-up, with an accumulative total of 50 times. All injections were performed successfully under ultrasound guidance, with no one transferred to radiographic assistance. No severe complications occurred after injection. CONCLUSIONS: In SMA with severe scoliosis planning to receive posterior spinal fusion, unilateral lumbar interlaminar fenestration on the convex side provides a feasible and reliable access for intrathecal nusinersen administration after surgery.

Association between Adiposity and Bone Mineral Density in Adults: Insights from a National Survey Analysis.

Adiposity and bone mineral density (BMD) are closely associated. The aim of this research was to investigate the association between BMD and adiposity measures in adults, including gynoid percent fat (GPF), android percent fat (APF), total percent fat (TPF), visceral adipose tissue percent (VAT%), and total lean mass percent (TLM%). Participants (n = 11,615) aged 18 years and older were analyzed using data from the National Health and Nutrition Examination Survey (NHANES) spanning from 1999 to 2018. Associations between BMD and adiposity measures were investigated, and potential differences based on gender and age were explored. Significant negative associations were observed among TPF, APF, GPF, VAT%, and BMD in the fully adjusted models, while TLM% and BMD were positively associated. Stratifying by age and sex, TPF, GPF, and VAT% consistently demonstrated a negative correlation with BMD. In the young adult group, a TPF of 38.2% eliminated the negative correlation between BMD and TPF. Male BMD exhibited an inverted U-shaped relationship with APF, peaking at 35.6%, while a similar pattern was observed for the middle-aged group BMD and APF, with a peak at 31.7%. This large-sample research found a significant negative association between adiposity measures and BMD, providing valuable revelations regarding the intricate connection between adiposity and bone health.

How do orphan disease patients live during the pandemic of Omicron variant? A nationwide survey of spinal muscular atrophy patients in China.

OBJECTIVES: To investigate the challenges of patients with spinal muscular atrophy (SMA) during the Omicron variant COVID-19 pandemic. DESIGN: A cross-sectional survey was conducted in China from January 02, 2023, to January 12, 2023, using a questionnaire that covered three aspects: (1) Demographic information; (2) SMA-related information; and (3) COVID-19-related information. We recruited patients with SMA from 33 provinces. The prevalence, course, and clinical manifestations of COVID-19 were calculated. The relationships between independent and outcome variables were investigated. RESULTS: In total, 677 patients (male: 349; female: 328) were included in this study (average age = 11.40 years); 534 (78.88%) suffered from COVID-19. The most common symptoms were fever (95.51%), cough (57.87%), and sputum (49.44%). Of the infected patients, 91.57% recovered with at-home care, and 8.43% were hospitalized; 1.31% were admitted to the intensive care unit (ICU). A positive correlation was observed between the SMA severity and hospitalization rate. The ICU stay rate in patients with SMA type I was significantly higher than that in other SMA types. CONCLUSION: This is the first large sample survey to timely reveal the living situation of patients with SMA during the COVID-19 pandemic's Omicron variant. Patients with SMA type I should be paid more attention in terms of hospitalization and ICU stay.

Does Progesterone Affect Perioperative Blood Loss during Posterior Spinal Fusion Surgeries in Female Patients with Adolescent Idiopathic Scoliosis? A Retrospective Study.

OBJECTIVE: Menstruation is considered a contraindication for elective surgery for higher operative blood loss. Progesterone is often used to postpone menstruation to avoid surgery during menstruation. This study aimed to explore whether using progesterone to postpone menstruation affects perioperative blood loss and complications in female patients with adolescent idiopathic scoliosis (AIS) who underwent posterior spinal fusion (PSF) surgery. METHODS: A retrospective study was performed for female patients diagnosed with AIS who underwent PSF surgery between March 2013 and January 2021. Patients scheduled to undergo PSF surgery from 2 days before menstruation to 3 days after menstruation were treated with progesterone preoperatively. The patients were divided into two groups according to progesterone use (progesterone injection group; control group). Demographic and surgical data including intraoperative blood loss (IBL), normalized blood loss (NBL), total blood loss (TBL), transfusion rate, perioperative complications, postoperative drainage time, postoperative hospital stay, and preoperative coagulation function data were collected. RESULTS: A total of 206 patients were included in the study. Among them, the progesterone injection group included 41 patients, with an average age of 14.8 years. While the control group included 165 patients, with an average age of 14.9 years. The two groups were matched for age, height, weight, operation time, Risser sign, correction rate, mean curve Cobb angle, bending Cobb angle, number of internal fixations, and number of fused levels (all P > 0.05). Regarding coagulation function, no significant differences were found in thrombin time, activated partial thromboplastin time, fibrinogen, prothrombin time, and platelet count between the two groups (all P > 0.05). IBL, NBL, and TBL were higher in progesterone injection group; however, the difference was nonsignificant (all P > 0.05). Transfusion rate, perioperative complications, postoperative drainage time, and postoperative hospital stay were not statistically different between groups (all P > 0.05). CONCLUSION: Intramuscular injection of progesterone to avoid menstruation during PSF surgery did not affect perioperative blood loss and complications in AIS patients. It may be a safe method for AIS patients to avoid menstrual problems affecting the operation time and receive PSF surgery as scheduled.

Minimally Invasive Full-endoscopic Posterior Cervical Foraminotomy and Discectomy: Introducing a Simple and Useful Localization Technique of the "V" Point.

OBJECTIVE: Conventional localization technique of V point for full-endoscopic posterior cervical foraminotomy and discectomy (FPCD) required repeated fluoroscopies, especially in patients with short and thick necks. To address this issue, the present study aimed to introduce a new localization technique of V point, and further evaluate its efficacy. METHODS: A K-wire was inserted and fixed at the pedicle eye under A/P fluoroscopy, then a working channel was established quickly along with it. Thirty-four patients who underwent minimally invasive FPCD assisted by the new technique were included in this study. The clinical and radiological data were collected and analyzed, including radiation dose, operative time, positioning time, visual analog scale (VAS) for neck and arm pain, neck disability index (NDI) scores, Cobb angle of operative level and range of motion of the cervical spine. RESULTS: All operations were performed successfully, and no iatrogenic nerve or vascular injury occurred. None of the patients needed to be transferred to open surgery or revision surgery. The mean radiation dose was found to be1.68 ± 0.36 mSv. The mean positioning time observed was 10.68 ± 5.42 min and the average operation time was 81.18 ± 10.87 min. The operation time significantly declined as the number of patients increased. A significant difference in operation time between the first (96.22 ± 10.36 min) and last quartile (75.00 ± 3.84 min) of cases was observed (t = 4.82, P < 0.001). The VAS scores for neck and arm pain, and NDI scores were significantly improved after surgery (PVAS-Neck <0.0001, PVAS-Arm <0.0001, PNDI <0.0001). Based on MacNab criteria, the excellent plus good rate was 91.17%. The Cobb angle of operative level and range of motion of the cervical spine were significantly improved postoperatively (t = 2.846, POA  = 0.015; t = 2.232, PROM-CA  = 0.026). CONCLUSION: The new image-assisted V point localization technique is simple and useful with little radiation exposure and short positioning time. FPCD assisted by the new technique could be a safe and effective alternative on properly selected patients.

Apical region correction and global balance: a 3-rods surgical strategy for the treatment of severe and rigid scoliosis.

BACKGROUND: The treatment of severe and rigid scoliosis is challenging. We developed a surgical strategy for severe and rigid scoliosis since 2014. This study aimed to retrospectively analyze the safety and efficacy of apical region correction and global balance with 3 rods as a surgical strategy for the treatment of severe and rigid scoliosis. METHODS: A retrospective study was performed for patients with severe and rigid scoliosis who underwent one-stage posterior corrective operation using the apical region correction and global balance with 3 rods surgical strategy between February 2014 and April 2020. The inclusion criteria were as follows: [1] Cobb angle > 90°; [2] flexibility < 30%; [3] a minimum 2-year follow-up. Patients were excluded if they had a history of traction or spinal surgery. Coronal and sagittal parameters, including Cobb angle, flexibility, apex vertebra translation, trunk shift (TS), thoracic kyphosis, lumbar lordosis, and sagittal vertical axis (SVA) were measured preoperatively, postoperatively and at the final follow-up. The Scoliosis Research Society 22-item questionnaire was administered preoperatively and at the final follow-up. During the operation, one slightly-bent short rod was placed into the concave side of apical region and correction was achieved by rod-rotation and distraction. Two pre-bent long rods were placed into both sides of the scoliosis and global balance was improved by leveling the proximal thoracic vertebrae and distal lumbar vertebrae. RESULTS: A total of 41 patients were included, with an average age of 20 years (range, 12-49 years) and follow-up of 34 months (range, 24-58 months). Postoperative correction rate was 53% for scoliosis. There were 14 patients with normal kyphosis before surgery, and 28 patients with normal kyphosis at the last follow-up. 88% of the patients (23/26) with preoperative coronal imbalance (TS > 20 mm) restored coronal balance at the final follow-up. 87% of the patients (14/16) with preoperative sagittal imbalance (SVA > 40 mm) restored sagittal balance at the final follow-up. The mean operation time and blood loss were 286 min and 941 mL, respectively. No patients had neurological complications or implant failure. CONCLUSION: The surgical strategy of apical region correction and global balance with 3 rods is a safe and effective alternative for the surgical treatment of severe and rigid scoliosis.

Surgical treatment of spinal deformities in spinal muscular atrophy: a single-center experience from China.

PURPOSE: To report the clinical characteristics and surgical outcomes of scoliosis in patients with spinal muscular atrophy (SMA) from Mainland China. METHODS: Nineteen patients were retrospectively analyzed. Demographic, anthropometric and respiratory parameters were collected preoperatively. Surgical program was analyzed. Radiographic data were measured perioperatively. Motor status, ventilation support, sitting ability and respiratory symptoms were evaluated preoperatively and at final follow-up. RESULTS: Age at surgery was 17.08 (12.83, 20.08) years. More than 40% of patients were diagnosed with low weight. Pulmonary dysfunction was observed in all patients. All patients received posterior spinal fusion (PSF). Sacroiliac fixation with sacral-2 alar iliac technique was used in 16 patients. Major curve correction rate was 54.87 ± 16.14%. Pelvic obliquity correction rate was 63.84 ± 23.70%. T1-T12 height, space-available-for-lung ratio and thoracic transverse diameter were increased (p < 0.001). Percentage of patients capable of sitting independently increased from 26.32% preoperatively to 73.68% at final follow-up. Cumulative scores of sitting-related items in muscular dystrophy spine questionnaire improved from 19.11 ± 5.40 preoperatively to 26.21 ± 5.20 at final follow-up. Total scores of symptomatic domains in St. George's Respiratory Questionnaire decreased from 4 (2, 12) preoperatively to 1 (0, 3) at final follow-up. CONCLUSIONS: SMA patients in China always present severe scoliosis at late adolescence, accompanied with high proportion of low weight and pulmonary dysfunction. PSF is effective for the correction of scoliosis and pelvic obliquity and the improvement of thoracic morphology. Sitting ability and respiratory symptoms were improved postoperatively.

Inclination of the small laminar slope angle leads to lumbar spinal stenosis due to hypertrophy of the ligamentum flavum.

OBJECTIVE: This study was designed to investigate the relationship between the laminar slope angle (LSA) and the lumbar disc degenerative grade, the cross-section area (CSA) of multifidus muscle, the muscle-fat index, and the thickness of the ligamentum flavum. METHODS: Retrospective analysis of 122 patients who were scheduled to undergo a lumbar operation for diagnoses associated with degenerative lumbar disease between January and December 2017. The L4-L5 disc grade was evaluated from preoperative sagittal T2-weighed magnetic resonance imaging of the lumber region; the CSA of the multifidus and muscle-fat index were measured at the L4 level, while the thickness of the ligamentum flavum was measured at the L4-L5 facet level from axis T2-weighed magnetic resonance imaging. The slope of the laminar was evaluated from preoperative three-dimensional computer tomography at the tip level of the facet joints and selected by the axis plane. Independent-sample T-tests were used to assess the association between age and measurement indices. RESULTS: Our results showed that age was positively connected with the LSA of L4 and L5 in different patients, although there was no significant difference between age and the difference of the two segment LSA. Partial correlation analysis, excluding the interference of age, revealed a strong negative relationship between the LSA of L4 and the thickness of the ligamentum flavum, irrespective of whether we considered the left or right. However, there was no correlation with lumbar disc degenerative grade, the CSA of the multifidus, and the muscle-fat index. CONCLUSION: The thickness of the ligamentum flavum showed changes with anatomical differences in the LSA, but not the lumbar disc degenerative grade, the CSA of the multifidus, and the muscle-fat index. A small change in LSA may cause large mechanical stress; this may be one of the causative factors responsible for lumbar spinal stenosis.

[Inhibitory Effect of LY294002 on Proliferation of Multiple Myeloma Cells and Its Mechanism].

OBJECTIVE: To explore the inhibitory effect of 2- (4-morpholine) -8- phenyl -4 hydrogen -1- benzo -4 ketone (LY294002) on proliferation of multiple myeloma cell U266 and its mechanism. METHODS: U266 cells were cultured with 0, 5, 10, 20 µmol/L LY294002 for 24, 48 and 72 h, the cell viability was measured by MTT method, cell morphology was observed by acridine orange staining, cell cycle was measured by flow cytometry. The expressions of B-cell lymphoma-2 (BCL-2), BCL-2-associated X protein (BAX), Cyclin D1, Cyclin E and activation of phosphatidyl inositol 3 kinase (PI3K)/protein kinase B (AKT) signal pathway were measured by Western blot. RESULTS: U266 cell viability was reduced in time- and dose-dependent manner after treatment with 5, 10, 20 µmol/L of LY294002 for 24, 48, 72 h. The 5, 10, 20 µmol/L LY294002 leaded to cell nucleus dense and thick, and the cell cycle arrested in the G1 phase (P<0.01). The expressions of BCL-2, Cyclin D1, Cyclin E, PI3K and p-AKT were down-regulated (P<0.01), and the expression of BAX up-regulated (P<0.01). CONCLUSION: LY294002 can inhibit U266 cell proliferation via suppresion of activation of PI3K/AKT signal pathway.