Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.

SOX9 is a crucial transcriptional regulator of cartilage development and homeostasis. Dysregulation of is associated with a wide spectrum of skeletal disorders, including campomelic dysplasia, acampomelic campomelic dysplasia, and scoliosis. Yet how variants contribute to the spectrum of axial skeletal disorders is not well understood.

Prophylactic Use of Cardiac Medications and Survival in Duchenne Muscular Dystrophy.

Introduction/aims: Prophylactic treatment of left ventricular dysfunction (LVD) in Duchenne muscular dystrophy (DMD) delays onset of LVD, but there is limited data showing impact on survival. Our aim was to describe survival among treated and untreated individuals with DMD.

Methods: Retrospective, population-based surveillance data from the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet) were used.

Proximal junctional disease 5 years after surgery for L4 degenerative spondylolisthesis: comparing PLIF versus minimally invasive decompression.

Purpose: This study aimed to compare the incidence of radiological adjacent segment disease (R-ASD) at L3/4 between patients with L4/5 degenerative spondylolisthesis (DS) who underwent L4/5 posterior lumbar interbody fusion (PLIF) and those who underwent microscopic bilateral decompression via a unilateral approach (MBDU) at L4/5. Our ultimate goal was to distinguish the course of natural lumbar degeneration from fusion-related degeneration while eliminating L4/5 decompression as a confounder.

Methods: Ninety patients with L4/5 DS who underwent L4/5 PLIF (n = 53) or MBDU (n = 37) and were followed for at least 5 years were retrospectively analyzed.

Streamlining the Journey of Research Into Clinical Practice: Making Your Patients and Practice Flourish Evaluation and Treatment of Pyogenic Spondylodiscitis of the Spine: AO Spine Knowledge Forum Trauma and Infection.

Study Design: Literature Review with clinical recommendations.

Objective: To highlight impactful studies on pyogenic spondylodiscitis (PS), identified by the AO Spine Knowledge Forum Trauma and Infection, with recommendations for their integration into clinical practice.

Methods: Five influential studies on PS that have the potential to shape current practice in spinal infections were selected and reviewed.

1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New Case.

Background: Anorectal malformations (ARMs) are a common pediatric surgical problem with an incidence of 1:1500 to 1:5000 live births. The phenotypical spectrum extends from anal stenosis to imperforate anus with or without anal fistula to persistent cloaca. They can manifest as either non-syndromic or syndromic conditions.

Growth-friendly spinal surgery: Review of the effect on truncal growth.

Background: Pediatric spinal deformity surgery affects ultimate spinal height in the growing child. This effect on ultimate spinal height has also been shown to affect pulmonary development and ultimately pulmonary function. There has been an increasing trend toward growth-friendly spinal surgery in early onset scoliosis to minimize the negative consequences of early spinal fusion surgery.

Advancements in minimally invasive surgery for adolescent idiopathic scoliosis: A case series and literature review.

Objectives: Minimally invasive surgery (MIS) has emerged as a promising alternative to conventional open techniques in the management of adolescent idiopathic scoliosis (AIS).

Materials And Methods: This study presents a case series of six patients who underwent MIS for AIS at a spine center, employing a synergistic blend of intraoperative fluoroscopy, cone-beam computed tomography scans, and three-dimensional navigation technology. The surgical procedures were meticulously guided, with a focus on ensuring safety and precision in posterior pedicle fixation.

Advances in 3D correction of adolescent scoliosis: The superiority of scoliocorrector fatma-UI in rotational realignment.

This letter compares the clinical efficacy and economic feasibility of the scoliocorrector fatma-UI (SCFUI) with direct vertebral rotation (DVR) in treating adolescent idiopathic scoliosis (AIS). SCFUI has shown promising results in three-dimensional spinal correction, providing superior rotational alignment compared to DVR and achieving significant improvements in coronal and sagittal planes. Additionally, SCFUI's advanced design reduces risks associated with AIS surgeries and enhances overall patient outcomes.

Diagnostic Challenge of Phenotypic Variability in COL2A1-Related Disorders: Four Novel Variants and Expanding the Clinical Spectrum.

Objective: Heterozygous COL2A1 gene mutations are associated with type 2 collagenopathies, characterized by a wide, diverse, and overlapping clinical spectrum in related diseases. Our goal is to describe the clinical, radiological, and molecular findings of patients with COL2A1-related dysplasia and investigate the phenotype-genotype correlation. We also aim to emphasize the challenge of categorizing COL2A1-related diseases with similar clinical and radiological phenotypes.

Efficacy and safety of long fusion versus short fusion in degenerative scoliosis: a systematic review and meta-analysis.

Background: This study aimed to evaluate the efficacy and safety of long fusion versus short fusion in patients with degenerative scoliosis.

Methods: Databases were systematically searched up to June 2024. The authors applied Review Manager 5.

Delayed diagnosis of spinal osteoblastoma presenting with radicular pain and scoliosis: A case report.

Introduction And Importance: Osteoblastoma is a rare benign bone tumor, accounting for 1 % of primary bone tumors, often affecting the spine and sacrum. Accurate diagnosis is essential for appropriate treatment and prognosis.

Case Presentation: A 19-year-old male presented with two years of persistent nocturnal radicular and low back pain unresponsive to anti-inflammatory medications.

Risk factors for mechanical complications in degenerative lumbar scoliosis with concomitant thoracolumbar kyphosis: does the selection of the upper instrumented vertebra matter?

Background: Degenerative lumbar scoliosis (DLS) represents a distinct subset of adult spinal deformity, frequently co-occurring with thoracolumbar kyphosis (TLK) in the sagittal plane. TLK is typically viewed as detrimental in degenerative spinal conditions and has been linked to increased pain severity and a higher prevalence of mechanical complications (MC) as previously reported. The present study aimed to identify the risk factors associated with the development of MC in patients with DLS and concomitant TLK.

Bracing effectiveness in idiopathic early onset scoliosis followed to skeletal maturity: a systematic review and meta-analysis.

Purpose: Treating idiopathic Early Onset Scoliosis (idiopathic EOS) is challenging due to ongoing growth and extensive follow-ups. While bracing is effective for Adolescent Idiopathic Scoliosis (AIS), its value for children under 10 remains debated. This systematic review and meta-analysis evaluates the effectiveness of spinal bracing in idiopathic EOS, followed to skeletal maturity.

The association of congenital diaphragmatic hernia with scoliosis.

Purpose: To determine the prevalence of scoliosis in patients who have undergone surgical repair of CDH and attempt to assess the aetiology of scoliosis in affected cases.

Methods: A prospectively collected database of patients with CDH treated in a single centre between 1997 and 2023 was reviewed. Cases with adequate records who continued to reside locally having survived beyond age 2 and > 2 years following CDH repair were included.

Successful extracorporeal membrane oxygenation for heart failure after adolescent idiopathic scoliosis surgery.

Purpose: Spine surgery, particularly deformity correction, is associated with a high risk of peri-operative or post-operative complications, and these complications can lead to catastrophic consequences. This case report will present the etiology and treatment process of the peri-operative cardiac arrest during scoliosis correction surgery.

Method: In this report, we present a case of cardiac arrest during posterior correction surgery in a 17-year-old female patient with adolescent idiopathic scoliosis.

[The value of studying the cervical spine in craniofacial asymmetries].

Introduction: The relationship between facial asymmetry and cervical anomaly is rarely mentioned in the diagnosis of dento-maxillo-facial orthopaedics. It is regrettable that the study of the cervical spine is often ignored in the etio-pathogenesis of these dysmorphoses, particularly in cases of facial asymmetry.

Objective: The aim is twofold: to encourage orthodontists and maxillofacial surgeons to make a systematic study of the cervical spine in craniofacial dysmorphoses and in particular craniofacial asymmetries, without claiming that they are becoming specialists in cervical spine pathology, and to introduce the necessary training in malformations of this anatomical region as part of the orthodontist specialisation curriculum.

New horizons for adolescent idiopathic scoliosis treatment through PosturalSpine D'Amanti Method.

The aim of the study is to compare improvement outcomes in patients (aged between 8 and 18 years old) with idiopathic scoliosis treated with a traditional technique with those treated with an innovative method. The study included 17 participants allocated into two groups: experimental (n = 8) and control (n = 9) groups. The first group was treated with a new method with PosturalSpine® D'Amanti method, twice a week for 30 min per session while the second group was treated with kinesitherapy and traditional tools three times week for 45 min per session.

Current practices in MRI screening in early onset scoliosis.

Purpose: Early onset scoliosis (EOS) has traditionally been an indication for MRI because of its association with neural axis abnormalities (NAAs). Because these abnormalities are often clinically silent and concerns regarding sedation in young children are growing, routine MRI for EOS is debated. This study investigates the current practices of EOS MRI screening among surgeons in the Pediatric Spine Study Group (PSSG).

Which Lenke type curve is most appropriate for vertebral body tethering in adolescent idiopathic scoliosis?

Purpose: Clinical trials have studied the effects of curve magnitude and flexibility, age, and skeletal immaturity on the outcomes of VBT. No studies have assessed the effect of Lenke curve type on the outcomes of VBT. This study compares outcomes in patients who underwent VBT with Lenke type 1, 3, 5, and 6 curves.

Automatic skeletal maturity grading from pelvis radiographs by deep learning for adolescent idiopathic scoliosis.

Adolescent idiopathic scoliosis (AIS) is a three-dimensional spine deformity governed of the spine. A child's Risser stage of skeletal maturity must be carefully considered for AIS evaluation and treatment. However, there are intra-observer and inter-observer inaccuracies in the Risser stage manual assessment.

Relative anterior spinal overgrowth in mild and moderate adolescent idiopathic scoliosis: a retrospective study.

To determine whether relative anterior spinal overgrowth (RASO) occurs regardless of scoliosis segments and severity, and to explore the pattern of vertebral body height changes in adolescent idiopathic scoliosis (AIS). A total of 125 AIS and 179 non-scoliotic adolescents were enrolled. The anterior vertebral body height (VBHa) and posterior vertebral body height (VBHp) were measured on lateral spine radiographs, and the VBHa/VBHp ratio was calculated.

Machine Learning-based Cluster Analysis Identifies Three Unique Phenotypes of Patients With Adult Spinal Deformity With Distinct Clinical Profiles and Long-term Recovery Trajectory: A Development Study.

Study Design: A retrospective review of a prospective adult spinal deformity data.

Objective: To identify distinct patient clinical profiles and recovery trajectories in patients with adult spinal deformity (ASD).

Summary Of Background Data: Patients with ASD exhibit a diverse array of symptoms and significant heterogeneity in clinical presentations, posing challenges to precise clinical decision-making.

A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report.

Acrodysostosis (ADO) is a rare form of peripheral dysostosis characterized by skeletal malformations, growth delays, short stature, and distinctive facial features caused by in part by underdeveloped (hypoplasia) of facial bones. Skeletal dysplasia is specific and includes disproportional short stature with short extremities and brachydactyly, multiple cone-shaped epiphyses, scoliosis or kyphosis with spinal stenosis, and advanced bone maturation. Herein, we are highlighting a case that presented with clinical features such as brachydactyly, delayed milestone, growth delay, muscle weakness and nasal hypoplasia.