Sequential correction of severe and rigid kyphoscoliosis: a new technical note and preliminary results.

OBJECTIVE: The present study is to evaluate the clinical outcomes of the sequential correction of severe and rigid kyphoscoliosis. METHODS: Between January 2014 and December 2020, 27 adults with severe and rigid kyphoscoliosis underwent sequential correction combined with posterior grade 4 or grade 5 spinal osteotomy. Radiological parameters, including the major curve Cobb angle, kyphotic angle, coronal imbalance, and sagittal vertical axis (SVA), were compared. Patient self-reported health-related quality of life (HRQOL) scores were used to evaluate clinical outcomes. RESULTS: The mean major curve Cobb angle improved from 134.30 ± 13.24° to 44.48 ± 9.34° immediately after surgery and to 46.11 ± 8.94° at the final follow-up. The mean kyphotic angle improved from 112.15 ± 20.28° to 38.63 ± 15.00° immediately after surgery and to 39.85 ± 14.92° at the final follow-up. The mean preoperative major curve Cobb angle of grade 5 spinal osteotomy group was higher than that of grade 4 spinal osteotomy group. Coronal imbalance and SVA slightly improved. The patient self-reported HRQOL scores improved postoperatively and at the final follow-up. Activity, appearance and total scores of the SRS-22 of the grade 5 spinal osteotomy group at the final follow-up were significantly better than those of the grade 4 spinal osteotomy group. CONCLUSIONS: Sequential correction combined with posterior grade 4 or grade 5 spinal osteotomies is an excellent and safe treatment for severe and rigid kyphoscoliosis in adults. Sequential correction combined with posterior grade 5 spinal osteotomies can be used to correct severe and rigid kyphoscoliosis with higher major curve Cobb angle.

Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias.

We present a Pakistani kinship afflicted with a syndrome with features including short stature, reduced sitting height, orofacial symptoms including prominent forehead and thick eyebrows, short and broad thorax, and variable features such as long philtrum, short broad neck, barrel chest, thoracic kyphoscoliosis, hypogonadism, and hypospadias. Phenotypic variation even within different sibships was considerable. The unique combination of the phenotypic characteristics prompted us to determine the shared homozygosity regions in patient genomes and the pathogenic variants by next generation technologies like single nucleotide polymorphism (SNP) genotyping and whole exome sequencing (WES). Through these analyses, we detected homozygous OBSL1 c.848delG (p.Gly283AlafsTer54) as the causal variant. Biallelic variants in OBSL1 are known to cause Three M Syndrome 2 (3M2), a rare disorder of growth retardation with characteristic facial dysmorphism and musculoskeletal abnormalities. Affected members of the family do not have the 3M2 hallmark features of dolichocephaly, hypoplastic midface, anteverted nares, low nasal bridge, pectus excavatum, sacral hyperlordosis, spina bifida occulta, anterior wedging of thoracic vertebrae, prominent heels, and prominent talus. Moreover, they have some variable features not typical for the syndrome such as round face, disproportionate short stature, barrel chest, thoracic kyphoscoliosis, hypogonadism, and hypospadias. Our study facilitated genetic diagnosis in the family, expanded the clinical phenotype for 3M2, and unraveled the considerable clinical variation within the same kinship. We conclude that unbiased molecular analyses such as WES should be more integrated into healthcare, particularly in populations with high parental consanguinity, given the potential of such analyses to facilitate diagnosis.

A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family.

Spondylocarpotarsal synostosis (SCT) syndrome is a very rare and severe form of skeletal dysplasia. The hallmark features of SCT are disproportionate short stature, scoliosis, fusion of carpal and tarsal bones, and clubfoot. Other common manifestations are cleft palate, conductive and sensorineural hearing loss, joint stiffness, and dental enamel hypoplasia. Homozygous variants in FLNB are known to cause SCT. This study was aimed to investigate the phenotypic and genetic basis of unique presentation of SCT syndrome segregating in a consanguineous Pakistani family. Three of the four affected siblings evaluated had severe short stature, short trunk, short neck, kyphoscoliosis, pectus carinatum, and winged scapula. The subjects had difficulty in walking and gait problems and complained of knee pain and backache. Roentgenographic examination of the eldest patient revealed gross anomalies in the axial skeleton including thoracolumbar and cervical fusion of ribs, severe kyphoscoliosis, thoracic and lumbar lordosis, coxa valga, fusion of certain carpals and tarsals, and clinodactyly. The patients had normal faces and lacked other typical features of SCT like cleft palate, conductive and sensorineural hearing loss, joint stiffness, and dental enamel hypoplasia. Whole exome sequencing (WES) of two affected siblings led to the discovery of a rare stop-gain variant c.220C>T (p.(Gln74*)) in exon 1 of the FLNB gene. The variant was homozygous and segregated with the malformation in this family. This study reports extensive phenotypic variability in SCT and expands the mutation spectrum of FLNB.

Delayed aortic injury after thoracic corrective osteotomy: a case report.

PURPOSE: To present a case of delayed aortic perforation due to a nondisplaced fracture of the 9th rib after vertebral osteotomy for degenerative kyphoscoliosis in patients with osteoporosis. METHODS: A 78-year-old female patient with osteoporosis had undergone T9-iliac correction surgery for degenerative kyphoscoliosis. After 2 years, the patient underwent T10 pedicle subtraction osteotomy for a T10 vertebral fracture and progression of kyphosis. Postoperatively, the patient had been doing well for 3 weeks; however, just before the day of discharge, she died following a cardiopulmonary arrest. An autopsy was performed with the consent of her family. RESULTS: Autopsy revealed a large amount of blood and a clot in the left thoracic cavity. Aortic perforation was found just in front of a nondisplaced fracture of the left 9th rib. CONCLUSION: This report describes a new critical complication after spinal correction surgery. Even without pedicle screw malposition, aortic injuries can happen to patients with osteoporosis after corrective osteotomy for degenerative kyphoscoliosis due to positional change of aorta and fragility of the ribs. The spine surgeon should be aware of this type of complication, and rib fractures around the aorta after vertebral osteotomy should not be neglected even when there is no displacement.

Lateral interbody release for fused vertebrae via transpsoas approach in adult spinal deformity surgery: a preliminary report of radiographic and clinical outcomes.

BACKGROUND: Lateral interbody release (LIR) via a transpsoas lateral approach is a surgical strategy to address degenerative lumbar scoliosis (DLS) patients with anterior autofusion of vertebral segments. This study aimed to characterize the clinical and radiographic outcomes of this lumbar reconstruction strategy using LIR to achieve anterior column correction. METHODS: Data for 21 fused vertebrae in 17 consecutive patients who underwent LIR between January 2014 and March 2020 were reviewed. Demographic and intraoperative data were recorded. Radiographic parameters were assessed preoperatively and at final follow-up, including segmental lordotic angle (SLA), segmental coronal angle (SCA), bone union rate, pelvic incidence (PI), lumbar lordosis (LL), pelvic tilt, sacral slope, PI-LL mismatch, sagittal vertical axis, Cobb angle, and deviation of the C7 plumb line from the central sacral vertical line. Clinical outcomes were evaluated using Oswestry Disability Index (ODI), visual analog scale (VAS) scores for low back and leg pain, and the short form 36 health survey questionnaire (SF-36) postoperatively and at final follow-up. Complications were also assessed. RESULTS: Mean patient age was 70.3 ± 4.8 years and all patients were female. Average follow-up period was 28.4 ± 15.3 months. Average procedural time to perform LIR was 21.3 ± 9.7 min and was not significantly different from traditional lateral interbody fusion at other levels. Blood loss per single segment during LIR was 38.7 ± 53.2 mL. Fusion rate was 100.0% in this cohort. SLA improved significantly from - 7.6 ± 9.2 degrees preoperatively to 7.0 ± 8.8 degrees at final observation and SCA improved significantly from 19.1 ± 7.8 degrees preoperatively to 8.7 ± 5.9 degrees at final observation (P < 0.0001, and < 0.0001, respectively). All spinopelvic and coronal parameters, as well as ODI and VAS, improved significantly. Incidence of peri- and postoperative complications such as iliopsoas muscle weakness and leg numbness in patients who underwent LIR was as much as XLIF. Incidence of postoperative mechanical failure following LIR was also similar to XLIF. Reoperation rate was 11.8%. However, there were no reoperations associated with LIR segments. CONCLUSIONS: The LIR technique for anterior column realignment of fused vertebrae in the context of severe ASD may be an option of a safe and effective surgical strategy.

Pectus excavatum, kyphoscoliosis associated with thoracolumbar spinal stenosis: a rare case report and literature review.

BACKGROUND: Pectus excavatum is the most common congenital chest wall defect. Thoracolumbar spinal stenosis and kyphoscoliosis was seen in patients with pectus excavatum. It can be caused by ossification of the ligamentum flavum, which is rare in patients with pectus excavatum. CASE PRESENTATION: We reported a 26-year-old woman presented bilateral lower extremities weakness and numbness for two months, progressive worsening. She was diagnosed as thoracolumbar spinal stenosis with ossification of the ligamentum flavum, thoracolumbar kyphoscoliosis associated with pectus excavatum. The posterior instrumentation, decompression with laminectomy, and de-kyposis procedure with multilevel ponte osteotomy were performed. Her postoperative course was uneventful and followed up regularly. Good neurologic symptoms improvement and spinal alignment were achieved. CONCLUSIONS: Pectus excavatum, kyphoscoliosis associated with thoracolumbar spinal stenosis is rare, and thus her treatment options are very challengeable. Extensive laminectomy decompression and de-kyphosis procedures can achieve good improvement of neurologic impingement and spinal alignment.

Domiciliary noninvasive ventilation for chronic respiratory diseases.

Patients with chronic respiratory diseases, including chronic obstructive pulmonary disease (COPD), neuromuscular diseases, kyphoscoliosis and obstructive sleep apnoea-obesity hypoventilation syndrome (OSA-OHS), are at a higher risk of decompensation in the form of hypercapnic respiratory failure leading to intensive care unit (ICU) admission and increased mortality. This article reviews the evidence of role of domiciliary noninvasive ventilation (NIV) in patients with diseases with chronic ventilatory failure, including the mechanism of the effect of (NIV).

Long-term results after the one-stage posterior-only surgical correction of thoraco-lumbar kyphoscoliosis in congenital spine deformity caused by two ipsilateral hemi-vertebrae.

BACKGROUND: Two ipsilateral hemivertebrae is less common and presents severe growth imbalance caused by the vertebral anomalies. However, there is a paucity of reports regarding to two ipsilateral thoracolumbar hemivertebrae. The purpose of present study is to evaluate the long-term outcomes of the posterior surgical correction of thoraco-lumbar spine deformity caused by two ipsilateral hemivertebrae. METHODS: From 2006 to 2014, a total of 14 consecutive pediatric patients with congenital thoraco-lumbar hemivertebrae were treated by posterior excision of hemivertebrae with short segment fusion. The following parameters were measured: coronal major curvature, cranial and caudal compensatory curvature, segmental kyphosis, lumbar lordosis, trunk shift, apical vertebra translation and sagittal vertical axis. These results were compared and evaluated in preoperatively, immediately postoperatively and at the final follow-up. All patients had a minimum of 5 years follow-up. RESULTS: The mean age at surgery was 11.1 ± 4.8 years (2yos to 17yos). The mean follow-up period was 80.2 ± 19.4 months (60mons to 117mons). There was a mean improvement of 74.2% in the coronal major curve from a mean angle of 64.1° before surgery to 15.8° at the final follow-up. The cranial and caudal curves improved of 69.8 and 69.0% from 25.6° to 7.7°, 26.9 to 8.2, respectively. The mean thoraco-lumbar kyphosis was 59.9° before and 13.6° after surgery, 20.8° at the final follow-up. Alignment in the coronal and sagittal plane was either maintained or improved within normal values in all patients. CONCLUSIONS: Good correction and spinal balance can be achieved by posterior-only hemivertebrectomy in patients with thoracolumbar kyphocsoliosis caused by two ipsilateral hemivertebra. The complication of neurological injury is low but a technically demanding procedure. More attention should be paid in residual curve progression after surgery.

Successful pregnancy and delivery in a woman with achondroplasia.

Achondroplasia is a common form of dwarfism occurring in one out of 25,000 of live births. These patients present many problems during pregnancy and at the time of the delivery. The anaesthetist may also face several difficulties for both general and regional anaesthesia. The aim of this case report is to discuss various obstetric and anaesthetic considerations in such patients and ways to manage the difficulties. A 29-year-old woman expecting her first child, with achondroplasia -height of just 3'2'' (98 centimetres) - at 31 weeks of gestation, presented to our OPD for antenatal visit on May 15, 2018. Her successful elective lower segment caesarean section was performed on June 25, 2018 at 37 weeks in view of contracted pelvis under general anaesthesia. A live male baby was delivered, with no complications, good Apgar score and birth weight of 2.7kg. This shows that a woman with a genetic disorder like achondroplasia can become pregnant and deliver a healthy child at term.

Upregulated miR-224-5p suppresses osteoblast differentiation by increasing the expression of Pai-1 in the lumbar spine of a rat model of congenital kyphoscoliosis.

Congenital scoliosis is defined by the presence of structural anatomical malformations that arise from failures of vertebral formation or segmentation before and after birth. The understanding of genetic background and key genes for congenital scoliosis is still poor. We herein report that the excess expression of plasminogen activator inhibitor-1 (Pai-1) induced by the upregulation of miR-224-5p is involved in the pathogenesis of congenital kyphoscoliosis through impaired osteoblast differentiation. We first investigated the variety and progression of abnormalities of the lumbar spines in Ishibashi (IS) rats, a rat model of congenital kyphoscoliosis. The rats had already shown fusion and division of the primary ossification center at postnatal day 4. Over time, the rats showed various abnormalities of the lumbar spine, including the fusion of the annular epiphyseal nucleus. At postnatal day 42, spinal curvature was clearly observed due to the fusion of the vertebral bodies. Using a microRNA array, we found that the expression of miR-224-5p was increased in the lumbar spine of the rats at postnatal day 4. The expression of Pai-1, which is involved in osteoblast differentiation regulated by miR-224-5p, was also increased, while the levels of type I collagen, a marker of osteoblast differentiation, were decreased in the lumbar spine. These results indicate that the aberrant expression of miRNA-224-5p and its target genes is involved in the impaired osteoblast differentiation and may provide a partial molecular explanation for the pathogenesis of congenital scoliosis.

A rare intraoperative spinal cord injury caused by thoracic 8 nerve root interruption during posterior vertebral column resection surgery for severe congenital kyphoscoliosis: a case report.

BACKGROUND: To our knowledge, the exposed nerve roots in thoracic spine are usually sacrificed to facilitate osteotomy during posterior vertebral column resection (PVCR) for severe spinal deformity. Currently we report a case with severe spine deformity in which intraoperative neurological monitoring (IOM) loss after interrupting T8 nerve root finally led to spinal cord injury during PVCR surgery. CASE PRESENTATION: The patient was a 14-year-old female with severe congenital kyphoscoliosis (CKS) without preoperative neurologic deficits. The IOM events (MEP loss and SSEP latency prolong) were showed when T8 nerve root at concave side was interrupted. And then we reduce the scope of osteotomy to control bleeding, raised blood pressure (MAP, 65-80) to increase blood supply for spinal cord, placed the bilateral rod to stabilized the spinal cord, used the methylprednisolone, explored the presence or absence of spinal cord compression, and prepared to change the surgical plan from PVCR to PSO. After that the IOM signals partial recovered from the lowest point. Postoperatively the patients showed transient motor function deficits of left lower limbs weak without somatosensory deficits, and come back to preoperative status 6 months later. CONCLUSIONS: Interrupting the thoracic spine nerve root is danger to trigger the spinal cord injury during PVCR procedure of severe CKS. That probably because the increasing tension of contralateral anterior horn area of spinal cord via the nerve root pulling.

Percutaneous endoscopic unilateral laminotomy and bilateral decompression under 3D real-time image-guided navigation for spinal stenosis in degenerative lumbar kyphoscoliosis patients: an innovative preliminary study.

BACKGROUND: The aim of this study is to introduce a new method of percutaneous endoscopic decompression under 3D real-time image-guided navigation for spinal stenosis in degenerative kyphoscoliosis patients without instability or those who with multiple comorbidities. Decompression alone using endoscope for kyphoscoliosis patient is technical demanding and may result in unnecessary bone destruction leading to further instability. The O-arm/StealthStation system is popular for its ability to provide automated registration with intraoperative, postpositioning computed tomography (CT) which results in superior accuracy in spine surgery. METHODS: In this study, we presented four cases. All patients were over seventy years old female with variable degrees of kyphoscoliosis and multiple comorbidities who could not endure major spine fusion surgery. Percutaneous endoscopic unilateral laminotomy and bilateral decompression under 3D real-time image-guided navigation were successfully performed. Patients' demographics, image study parameters, and outcome measurements including pre- and post-operative serial Visual analog scale (VAS), and Oswestry Disability Index (ODI) were well documented. The follow-up time was 1 year. RESULTS: Pre- and post-operative MRI showed average dural sac cross sectional area (DSCSA) improved from 81.62 (range 67.34-89.07) to 153.27 (range 127.96-189.73). Preoperative neurological symptoms including radicular leg pain improved postoperatively. The mean ODI (%) were 85 (range 82.5-90) at initial visit, 35.875 (range 25-51) at 1 month post-operatively, 26.875 (range 22.5-35) at 6 months post-operatively and 22.5 (range 17.5-30) at 12 months post-operatively (p < 0.05). The mean VAS score were 9 (range 8-10) at initial visit, 2.25 (range 2-3) at 1 month post-operatively, 1.75 (range 1-2) at 6 months post-operatively and 0.25 (range 0-1) at 12 months post-operatively (p < 0.05). There was no surgery-related complication. CONCLUSIONS: To the best of our knowledge, this is the first preliminary study of percutaneous endoscopic laminotomy under O-arm navigation with successful outcomes. The innovative technique may serve as a promising solution in treating spinal stenosis patients with lumbar kyphoscoliosis and multiple comorbidities.

Relationship between characteristics of spinopelvic alignment and quality of life in Japanese patients with ankylosing spondylitis: a cross-sectional study.

BACKGROUND: Studies on characteristic spinal deformities in Japanese patients with ankylosing spondylitis (AS) and data demonstrating a relationship between health-related quality of life (HRQOL) and spinopelvic alignment in these patients are lacking. METHODS: In this cross-sectional study, 50 patients with AS and without a surgical history, vertebral body fracture, or scoliosis as well as 30 control patients with degenerative lumbar kyphoscoliosis (DLKS) were included. Data collected included patient sex, age, spinopelvic parameters on sagittal full-spine standing radiographs, and HRQOL questionnaire responses. Student's t-test was used to compare the characteristics of spinopelvic parameters between the groups. A multiple regression analysis was performed to analyze correlations between spinopelvic parameters and HRQOL in the AS group. RESULTS: Global kyphosis (GK; T1-12 angle) was significantly greater in the AS group than in the DLKS group (P < 0.001), whereas the pelvic tilt (PT; posterior PT angle) was smaller in the AS group (P = 0.006). Radiographic parameters correlated with HRQOL in the AS group. Multiple regression analysis identified the sagittal vertical axis (SVA) and sacral slope (SS) as factors influencing the SRS-22 total score and SVA and GK as factors influencing Japanese Orthopaedic Association Back Pain Evaluation Questionnaire mental health (subdomain). CONCLUSIONS: Patients with AS did not use lumbar lordosis or posterior PT to compensate for their large thoracic kyphosis due to spinopelvic ankylosis. These patients showed a unique compensation pattern. The correlation/regression analysis revealed a correlation between radiographic parameters and HRQOL in patients with AS, with particular importance of SVA, SS, and GK for clinical results in AS.

Asymmetrical vertebral column decancellation for the management of rigid congenital kyphoscoliosis.

BACKGROUND: Congenital kyphoscoliosis is a disease that often requires surgical treatment. Wedge osteotomies, such as pedicle subtraction osteotomy, are insufficient to correct this complicated rigid deformity. Vertebral column resection yields sufficient correction, but it is an exhaustively lengthy operation with a high risk of major complications. There are few effective and safe techniques for treating rigid congenital kyphoscoliosis. We aimed to investigate the technique of asymmetrical vertebral column decancellation (AVCD) for the treatment of rigid congenital kyphoscoliosis and evaluate the clinical and radiographic results of patients treated with the technique. METHODS: Between January 2013 to June 2017, the data of 31 patients with congenital kyphoscoliosis who underwent single level AVCD were reviewed. Preoperative and postoperative radiographical parameters and the visual analogue scale, Asia Spinal Injury Association, and Scoliosis Research Society-22 scores were documented. The patients were followed up for an average period of 29 months. RESULTS: The average operative time was 273.9 ± 46.1 min. The average volume of blood loss was 782.3 ± 162.6 ml. The main coronal curve improved from a mean of 81.4° preoperatively to 24.7° at the final follow-up, and the coronal balance improved from 28.9 to 7.6 mm. The degree of local kyphosis improved from a mean of 86.5° to 29.2°, and the sagittal balance improved from 72.3 to 16.9 mm. All clinical outcomes also improved significantly from preoperatively to the final follow-up. No permanent postoperative neurologic complications occurred. CONCLUSION: The AVCD surgical procedure corrects spinal deformities in both the coronal and sagittal planes by way of a convex-sided Y shape osteotomy, achieves satisfactory realignment without additional neurological complications, and can be considered an alternative treatment for rigid congenital kyphoscoliosis.

Multilevel extended posterior column osteotomy plus unilateral cage strutting for degenerative lumbar kyphoscoliosis.

OBJECTIVE: To explore the surgical outcome of patients with degenerative lumbar kyphoscoliosis who underwent multilevel extended posterior column osteotomy (PCO) plus unilateral cage strutting (UCS). METHODS: From Jan 2012 to Aug 2017, 23 patients with degenerative lumbar kyphoscoliosis who underwent multilevel extended PCO plus UCS technique (study group) and 13 patients who underwent asymmetrical pedicle subtraction osteotomy (PSO) technique (control group) were retrospectively reviewed; the radiological features, including coronal/sagittal deformity, and clinical evaluation including Oswestry Disability Index (ODI), visual analog scale (VAS), and Japanese Orthopedic Association (JOA) scores-lumbar were assessed before surgery and at follow-up. RESULTS: All patients underwent the operation successfully. There was no difference in fusion level, blood loss, and follow-up duration between the two groups; the operation time and length of hospital stay were shorter in study group than that in control group. All patients achieved significant correction of both scoliotic and kyphotic deformity and maintained the correction at minimum of two year follow-up, without any difference in deformity correction and correction loss between the two groups. All patients got back pain and leg pain alleviation and neurological function improvement at two year follow-up, without any difference between the two groups. The incidence of complications was lower in study group than that in control group. CONCLUSION: Multilevel extended PCO plus UCS procedure could achieve significant correction of scoliosis and kyphosis in the treatment of degenerative lumbar kyphoscoliosis, presenting less surgery time, lower incidence of complication, and shorter hospital stay when compared with the asymmetric PSO technique.

A Novel ATRX Mutation Presenting with Intellectual Disability and Severe Kyphoscoliosis.

Background: ATR-X syndrome is an X-linked clinical condition usually associated with profound intellectual disability, facial dysmorphism and alpha-thalassemia. The syndrome is clinically heterogeneous with a broad phenotypic spectrum. Although, alpha-thalassaemia is commonly present, it may not manifest in some patients.Case report: A novel missence mutation (NM_000489: ATRX; c.6130C > T; p.Leu2044Phe) was detected in the ATR-X gene in two male siblings with severe intellectual disability, dysmorphic facial appearance and skeletal anomalies. Severe kyphoscoliosis was the main finding. Hematologic findings, one of the well-known clinical entities, were not present.Conclusion: The missense mutation we have described in our patients has not been previously reported. This finding enriches mutation spectrum of ATRX (OMIM #300032) gene. This missense mutation, which is associated with ID and kyphoscoliosis and without alpha-thalassemia, contributes to genotype-phenotype correlation of the ATR-X spectrum. This case report provides further evidence that reverse genetics is a useful approach in diagnostic process of syndromic patients in adulthood.

The retinol-retinoic acid metabolic pathway is impaired in the lumbar spine of a rat model of congenital kyphoscoliosis.

Although congenital scoliosis is defined as a genetic disease characterized by a congenital and abnormal curvature of the spinal vertebrae, our knowledge of the genetic underpinnings of the disease is insufficient. We herein show that the downregulation of the retinol-retinoic acid metabolism pathway is involved in the pathogenesis of congenital scoliosis. By analyzing DNA microarray data, we found that the expression levels of genes associated with the retinol metabolism pathway were decreased in the lumbar spine of Ishibashi rats (IS), a rat model of congenital kyphoscoliosis. The expression of Adh1 and Aldh1a2 (alcohol dehydrogenase), two enzymes that convert retinol to retinoic acid in this pathway, were decreased at both the gene and protein levels. Rarα, a receptor of retinoic acid and bone morphogenetic protein 2, which play a central role in bone formation and are located downstream of this pathway, were also downregulated. Interestingly, the serum retinol levels of IS rats were higher than those of wild-type control rats. These results indicate that the adequate conversion from retinol to retinoic acid is extremely important in the regulation of normal bone formation and it may also be a key factor for understanding the pathogenesis of congenital scoliosis.

A novel radiographic classification of severe spinal curvatures exceeding 100°: the Omega (Ω), gamma (γ) and alpha (α) deformities.

PURPOSE: For spine curvatures with Cobb angles > 100°, curve classification and characterization become more difficult with conventional radiographs. 3-D computerized axial tomography scans add relevant information to categorize and describe a new classification to aid preoperative assessment in communication and patient evaluation. The purpose of this study is to describe a radiographic classification system of curves exceeding 100°. METHODS: A consecutive series of patients with curves exceeding 100° underwent a full spine radiographic review using conventional radiographs and 3-D CT. A descriptive analysis was performed to categorize curves into 4 main types (1, 2, 3 and 4) and 6 subtypes (1C, 1S, 1CS, 2P, 2D and 2PD) based on the location of the Cobb angle of the major scoliotic and kyphotic deformity as well as the location of the upper/lower end vertebra relative to the apical vertebra. RESULTS: A total of 98 patients met the inclusion criteria. There were 51 males and 47 females with an average age of 17.8 ± 4.5 years. The diagnosis included idiopathic (48); congenital (24); neuromuscular (4); and neurofibromatosis (2). The mean major coronal and sagittal Cobb (kyphosis) were 131.2° ± 23.4° and 154 ± 45.6, respectively. The classification scheme yielded 4 main types (1, 2, 3 and 4) and 6 subtypes under types 1 and 2 (1C, 1S, 1CS, 2P, 2D and 2PD). CONCLUSIONS: Our study describes a novel method of classifying severe spinal curvatures exceeding 100° using erect AP/lateral radiographs and 3-D CT reconstructive images. We hope that the descriptive analysis and classification will expand our understanding of these complex deformities. These slides can be retrieved under Electronic Supplementary Material.

Kyphoscoliosis with Klippel-Trenaunay syndrome: a case report and literature review.

BACKGROUND: Klippel-Trenaunay syndrome (KTS) is a rare congenital syndrome characterized by the triad of venous varicosities, capillary malformations and limb hypertrophy. However, KTS may rarely occur in combination with kyphoscoliosis. CASE PRESENTATION: We presented an 18-year-old female with KTS and kyphoscoliosis. Hypertrophy of bone and soft tissue affected her left face, trunk and lower limb. Moreover, the patient is associated with subacute thyroiditis, vitamin D deficiency and iron deficiency anemia, high level of D-dimer, swollen tonsil, kyphoscoliosis and Chiari-I-malformation without syringomyelia. A posterior correction and spinal fusion from T10 to L5 levels were performed for this patient. The lumbar curve was corrected from 105° to 60° and the kyphosis improved from 58° to 26°. The distance of trunk shift decreased from 10 cm to 1.4 cm. There were no thrombotic events occurred. At the 8th month follow-up, there was no significantly change of the curve in the coronal and sagittal radiographs. During the 31-month follow-up, the patient did not experience any discomfort. And her general appearance did not have any change until the last follow-up. However, she refused to take radiograph for worrying about radiation. CONCLUSIONS: KTS is a rare disease with classic clinical triad. However, it can also have other different features, including kyphoscoliosis, elevated D-Dimer, vitamin D deficiency and iron-deficiency anemia. These issues should be taken into consideration when planning treatment for kyphoscoliosis in KTS patients.

Techniques and pitfalls of laparoscopic paraesophageal hernia repair in severe kyphoscoliosis patients.

BACKGROUND: Increasing evidence suggests that kyphoscoliosis may play a role in the pathophysiology of paraesophageal hernia development. The presence of severe kyphoscoliosis not only increases the incidence of paraesophageal hernia but also increases the risk of hiatal hernia (HH) repair. Moreover, the technical skills and the pitfalls of laparoscopic repair of HH in this special condition have yet been described. METHODS: The technical skills, experience and pitfalls of laparoscopic paraesophageal hernia repair in severe kyphoscoliosis patients were described. These include perioperative care of patients' pulmonary function, patients' operating position and trocar placement, and the key steps and risks of laparoscopic HH repair in this special condition. RESULTS: Paraesophageal HHs were successfully laparoscopically repaired, and prolonged hospital stay was due to post-operative pulmonary complications. CONCLUSION: These techniques are essential to minimise the perioperative complications in laparoscopic paraesophageal hernia repair in severe kyphoscoliosis patients, and great pulmonary care is required in these patients.