BACKGROUND: Spine trauma is a common pathology that frequently requires neurosurgical intervention. Few studies have examined short-segment, 360-degree stabilization of traumatic thoracolumbar fractures.
METHODS: A retrospective review was completed of adult and pediatric patients who underwent surgical correction for thoracolumbar fractures between December 2011 and December 2021.
RESULTS: Forty patients met the inclusion criteria. The majority of patients presented with an American Spinal Injury Association (ASIA) score of D (n = 11) or E (n = 21). The most common level of injury was L1 (n = 20). The average length of stay was 11.7 days. Postoperatively, two patients had pulmonary emboli or deep venous thrombosis, and two had surgical site infections. Most patients were discharged to home (n = 21) or acute rehab (n = 14). The fusion rate at six months was 97.5%. Neurologically, all patients regained ambulation by >18 months follow-up. For the ASIA scale, most had a score of D (n = 4) or E (n = 32) at six months. The same trend was observed with the Frankel score, where most patients had either D (n = 5) or E (n = 31), improving to only two having a score of D at >18 months.
CONCLUSIONS: Corpectomy followed by posterior fusion has a number of biomechanical benefits. This construct permits circumferential decompression, larger surface area for fusion, improved reconstitution of vertebral body height, reduced kyphosis, and an overall shorter segment. This results in fewer levels needing to be fused while enabling the greatest changes of successful fusion.

BACKGROUND: Posterior internal fixation (PIF) is commonly used in the treatment of thoracolumbar fracture (TLF), but there is still no standard for the number of fixed segments. The objective of this meta-analysis was to evaluate the efficacy and safety of short segment (SS), intermediate segment (IS) and long segment (LS) in the fixation of TLF.
METHODS: Two authors independently searched through PubMed, Embase, Cochrane Library and Web of Science for studies of thoracolumbar fracture treated by posterior internal fixation, which were published until the end of April 2021. The Aggregate Data Drug Information System (ADDIS) software was used for data evaluation according to the Markov chain Monte Carlo (MCMC) method based on the Bayesian theorem.
RESULTS: Nineteen trials evaluating a total of 970 patients were enrolled in these studies, of which 340 in the SS group, 429 in the IS group and 201 in the LS group. For anterior vertebral height ratio (AVHR), IS had the highest AVHR, LS had the second highest AVHR. IS also ranked first in reducing visual analogue scale (VAS), SS ranked second. For sagittal Cobb\'s angle (SCA), LS had the lowest SCA and IS had the second lowest SCA. In terms of adverse events, IS had the lowest implant failure rate and LS had the second lowest implant failure rate.
CONCLUSIONS: IS may be the most desirable treatment option for TLF in reducing SCA, implant failure rate, VAS, and improving AVHR. However, more randomized controlled trials are needed to verify these results.

OBJECTIVE: To compare the surgical effect of children with symmetrical screw fixation and asymmetric screw fixation during posterior hemivertebra excision and short-segment pedicle screw fixation for the treatment of congenital scoliosis (CS).
METHODS: A total of 30 children with CS who underwent posterior hemivertebra excision and short-segment bilateral pedicle screw fixation in our hospital from 2012 to 2018 were retrospectively included and were divided into two groups: symmetric fixation group (n = 18) and asymmetric fixation group (n = 12). The total main curve, segmental main curve, cranial compensatory curve, caudal compensatory curve, coronal balance, and apical vertebra translation were measured in the coronal plane. The segmental kyphosis, thoracic kyphosis, lumbar lordosis, and sagittal balance were measured in the sagittal plane.
RESULTS: Of the 30 children, 28 hemivertebrae were resected. Twenty-two children had one hemivertebra, three had two hemivertebrae, and five were rib deformities. The average operation time was 268 min (180-420 min). The average blood loss was 291 mL (150-550 mL). The average follow-up was 21.1 months (12-47 months). For symmetric fixation group and there were significant differences among postoperative and follow-up parameters including the total main curve, segmental main curve, cranial compensatory curve, caudal compensatory curve, apical vertebra translation and segmental kyphosis compared with those of preoperative parameters (P < 0.05). The postoperative coronal balance was significantly lower than preoperative coronal balance (P < 0.05). The follow-up thoracic kyphosis was significantly higher than preoperative and postoperative thoracic kyphosis (P < 0.05). For asymmetric fixation group, the postoperative and follow-up parameters including the total main curve, segmental main curve, cranial compensatory curve, caudal compensatory curve, apical vertebra translation, and segmental kyphosis had statistical differences compared with those of preoperative parameters (P < 0.05). The postoperative sagittal balance was significantly higher than preoperative postoperative (P < 0.05). There were no significant differences in the postoperative and follow-up correction rate and correction loss between the two groups (P > 0.05). There were three complications in 30 children in our study, including two cases who had poor wound healing, and the wound healed smoothly after half a month of sterile dressing change. Postoperative curve progression occurred in one case after T12 and L3 hemivertebra resection and thoracic hemivertebra resection was planned again.
CONCLUSIONS: For pedicles which were difficult for screw fixation, adjacent segments can be chosen for screw fixation and it is safe and effective for vertebral pedicles ≤3 without internal fixation.

The choice of the type of stabilization device in the osteosynthesis of dorso-lumbar spine fractures remains a subject of controversy. The present study aims to evaluate the efficiency of short segment in patients suffering post-traumatic thoracolumbar fractures. This study was conducted in the Department of Orthopedic Surgery and Traumatology of the Habib Bourguiba University Hospital, Sfax, Tunisia. All our patients had a spinal osteosynthesis via the posterior approach with a short segment pedicle screw fixation. We established a record of the pre and post-operative data, the functional results in the post-operative stage during the follow-up period and in retrospect according to the Denis Pain Scale, as well as the Oswestry score. The correction was evaluated by determining the relative gain and loss at the last period of retrospect: vertebral kyphosis, regional kyphosis, Gardner Segment Kyphotic Deformity (GSKD), and computed tomography (CT) scan in retrospect to check the quality of the arthrodesis. The average Oswestry score was 14%. Twenty-nine patients had an Oswestry score ≤40%. The relative gain obtained postoperatively was 57.3% for vertebral kyphosis, 67.2% for regional kyphosis and 71.3% for Gardner kyphosis deformity; while the loss of correction at the last follow-up was 0.6° for vertebral kyphosis, 1.5° for regional kyphosis and 0.9° for GSKD. No cases of non-union were reported. The short segment fixation makes it possible to limit operating time, the abundance of bleeding and the aggression of the soft tissues.

The objective of this mini-review is to provide insights on the advances in the understanding of the genetic variants associated with different manifestations of Hirschsprung disease, which may present with a range of denervation from a short segment of colon to total colonic and small bowel or extensive aganglionosis. A recent article in this journal documented potential gene variants involved in long-segment Hirschsprung disease in 23 patients. Gene variants were identified using a 31-gene panel of genes related to Hirschsprung disease or enteric neural crest cell development, as previously reported in the literature. The study identified potentially harmful variants in eight genes across 13 patients, with a detection rate of 56.5% (13/23 patients). Five patients had pathologic variants in RET, NRG1, and L1CAM, and the remainder were considered variants of unknown significance. The authors attempted prenatal diagnosis of Hirschsprung disease utilizing an amniocentesis sample obtained for advanced maternal age in a family with a known deleterious RET mutation, manifested in the father (long-segment Hirschsprung disease) and older daughter (total colonic aganglionosis). The fetus had the same RET variant but, after several years of follow-up, has not developed any symptoms of Hirschsprung disease, supporting the conclusion that this RET mutation is an autosomal dominant gene with incomplete penetrance. This experience suggests that genetic counseling is appropriate to carefully assess the justification of prenatal testing, especially, when the phenotype of long-segment Hirschsprung disease is so variable and the disease is potentially curable with surgery.

UNASSIGNED: Systematic literature review.
UNASSIGNED: Many studies have provided evidence that short-segment posterior fixation (SSPF-1 level above and 1 below) with screws at the fracture level (SFL) are enough to achieve stability in some injury patterns, such as burst fractures, avoiding the need for circumferential reconstruction and long-segment instrumented fusion (LSIF-at least 2 levels above and 2 below). Given the potential benefits of avoiding unnecessary fusion in mobile healthy spinal segments, we performed a systematic review of biomechanical studies comparing different spinal reconstruction techniques for fractures of the thoracolumbar spine.
UNASSIGNED: A systematic literature review was performed in the PubMed and OVID databases of biomechanical studies comparing biomechanical differences between techniques of spine reconstructions.
UNASSIGNED: Eight studies were included and evaluated. Five of 6 studies reported stiffness improvement with SSPF and SFL, even comparable to circumferential fusion for a burst fracture. Two studies reported that LSPF has higher stiffness and restricts range of motion better than SSPF, but inclusion of screws in the fracture level is similar to LSPF (1 study). Finally, although SSPF is less stiff than anterior reconstruction, adding a SFL in SSPF results in similar stiffness than circumferential fusion for unstable burst fractures.
UNASSIGNED: Biomechanical studies analyzed generally suggested that SFL in SSPF may improve construction stiffness, and can even be compared with long-segment fixation or circumferential reconstruction in some scenarios. This construct option may be used to enhance stiffness in selected injury patterns, avoiding the needs of an additional anterior approach.

OBJECTIVE: The thoracolumbar (TL) area marks the transition of the rigid thoracic spine into the mobile lumbar spine, and it is considered to be the weakest part of the spine. This study was designed to develop a finite element (FE) model of the TL junction (T9-L3) to provide data that could help the clinician and researcher to answer the question of whether short-segment posterior fixation is sufficient for biomechanical performance. In addition, the aim was to examine whether long-segment posterior fixation carries a greater risk of the development of adjacent segment disease.
METHODS: This was a biomechanical finite element model analysis. FE analysis of the spine was conducted with posterior instrumentation under multidirectional loading conditions in order to evaluate the kinematics of the instrumented lumbar spine, as well as stresses in the posterior spinal instrumentation. We analyzed the following: 1) the range of motion of the T9-L3 region; and 2) the von Mises stress nephograms of the pedicle screws, rods, vertebrae, endplates, and intervertebral discs of 2 fixation FE models.
RESULTS: Long-segment stabilization was found to be beneficial in terms of reducing total stress on the spine. However, it is possible to reduce the stress on the system by incorporating the spinal fracture into the stabilization system. Therefore, short-segment stabilization is sufficient to create a safe and robust stabilization system and to maintain neighboring intact vertebrae.
CONCLUSIONS: Short-segment posterior fixation is sufficient to stabilize fractures at the TL junction, where the spinal fracture is included in the stabilization system.

METHODS: This was a prospective study of 50 patients of thoracolumbar fracture dislocation treated at a single institution with short-segment fixation with the inclusion of fracture level.
OBJECTIVE: To assess the outcomes of including the fracture level in short-segment fixation for thoracolumbar fracture dislocation.
BACKGROUND: Traditionally, thoracolumbar fracture dislocation is treated with long-segment posterior fixation. However, to save motion segments, short-segment fixation has been used instead in many cases of thoracolumbar trauma.
METHODS: In this study, 50 patients with thoracolumbar fracture dislocation were treated with short-segment fixation with inclusion of the fracture level; patients with pathological fractures or with a McCormack load-sharing score >6 were excluded. The 50 patients were prospectively followed for at least 1 year. The duration of surgery, blood loss, and complications were noted. The Visual Analog Scale (VAS) score was used to measure pain, and the American Spinal Injury Association (ASIA) scale was used to determine the neurological status at follow-up. Preoperative, immediate postoperative, and final follow-up X-rays were used to measure the kyphotic angle using Cobb\'s method.
RESULTS: The mean age of our patients was 33.4 years, and the male:female ratio was 1.9:1. The mean follow-up period was 18.4 months (range, 12-23 months). Injuries were mainly at the thoracolumbar junction area (T11-L2, 41 cases, 82%). The average duration of surgery was 94.6 minutes, and the average blood loss was 394.8 mL. Postoperative infection occurred in two cases and implant failure in one case. The kyphosis angle values were as follows: average preoperative, 26.80°±14.50°; immediate postoperative, 4.30°±8.70°; and final follow-up, 5.50°±110°. The ASIA scale and VAS score at final follow-up showed improvement.
CONCLUSIONS: Inclusion of the fracture level in short-segment fixation for thoracolumbar fracture dislocation (McCormack load-sharing score ≤6) gives good kyphosis correction and correction maintenance. It can also obviate the need for traditional long-segment fixation.

OBJECTIVE: To investigate the effect of fusion on short segment including fractured level (SSIFL) and long segment (LS) transpedicular fixation after acute thoracolumbar junction burst fractures. The 2-year clinical and radiologic follow-up results of the 2 groups also were compared.
METHODS: Seventy-four patients were randomized into one of 2 groups: SSIFL (n = 39) or LS (n = 35). The SSIFL group included one level above and one level below, including the fracture level, whereas the LS group included 2 levels above and 2 levels below, excluding the fracture level, for the transpedicular fixation. Fusion was assessed by technetium 99m-methylendiphosphonate, bone scintigraphy, and single-photon emission computed tomography. The 2-year follow-up results were compared clinically (Oswestry Disability Index and visual analog scale) and radiologically (kyphosis angle, sagittal index, anterior vertebral body height loss) at regular intervals. The clinical scores and radiologic parameters of patients with and without fusion also were compared.
RESULTS: The number of patients with fusion was significantly greater in the SSIFL group compared with the LS group. There was a significant reduction of the clinical scores of patients who had fusion compared with the fusion-free group; however, there was no radiologically significant difference. Furthermore, there was no significant difference between the SSIFL and LS groups in terms of the 2-year radiologic and clinical follow-up results.
CONCLUSIONS: Fusion occurred sooner and patients experienced earlier clinical recovery in the SSIFL group compared with the LS group.

OBJECTIVE: Hirschsprung\'s disease (HSCR) is a congenital disorder of the enteric nervous system characterized by the absence of ganglion cells in the Auerbach\'s and Meissner\'s plexuses. Although about 7% of cases are hereditary, the causal mutations have not been completely characterized. We encountered a novel family with inherited HSCR and screened them for causal mutations.
METHODS: A Japanese family of five female patients and six unaffected individuals was subjected to a whole-exome analysis with a next-generation sequencer.
RESULTS: After exome sequencing and the annotation of mutations, we identified co-segregated mutations with sequential filtering steps via a standard protocol. Eight mutations were identified: two on chromosome 10 and six on chromosome 11. We used pathogenicity prediction tools such as Genomic Evolutionary Rate Profiling, SIFT, and PolyPhen2 to predict the impact of mutations on the protein activity. S922Y, a novel mutation of RET, was identified as a likely causal mutation. In addition, a mutation of rs2435357T, known as enhancer of RET located in intron 1 of RET, was detected in this family.
CONCLUSIONS: The coexistence of RET mutations in both the exon (S922Y) and intron1 (rs2435357T) indicated a risk of HSCR in this family.