Long-Term Loss of Alignment Following ASD Surgery in the Absence of Mechanical Complications: Aging Spine?

Study Design: Retrospective analysis of a prospective multicenter Adult Spinal Deformity (ASD) registry.

Objective: Assess whether spinal alignment deteriorates post-surgery in absence of mechanical complications and evaluate the long-term outcomes of ASD surgery over a five-year period.

Summary Of Background Data: ASD is prevalent among older adults, leading to significant pain and disability.

Loss-of-function of the Zinc Finger Homeobox 4 () gene underlies a neurodevelopmental disorder.

8q21.11 microdeletions encompassing the gene encoding transcription factor ZFHX4, have previously been associated by us with a syndromic form of intellectual disability, hypotonia, decreased balance and hearing loss. Here, we report on 57 individuals, 52 probands and 5 affected family members, with protein truncating variants (n=36), (micro)deletions (n=20) or an inversion (n=1) affecting with variable developmental delay and intellectual disability, distinctive facial characteristics, morphological abnormalities of the central nervous system, behavioral alterations, short stature, hypotonia, and occasionally cleft palate and anterior segment dysgenesis.

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.

Neurodevelopmental disorders (NDDs) result from impaired development and functioning of the brain. Here, we identify loss-of-function (LoF) variation in ZFHX3 as a cause for syndromic intellectual disability (ID). ZFHX3 is a zinc-finger homeodomain transcription factor involved in various biological processes, including cell differentiation and tumorigenesis.

Gait alterations in patients with adult spinal deformity.

Background: Adult spinal deformity patients (ASD) experience altered spinal alignment affecting spatiotemporal parameters and joint kinematics. Differences in spinal deformity between patients with symptomatic idiopathic scoliosis (ID-ASD) and patients with "de novo" scoliosis (DN-ASD) may affect gait characteristics differently. This study aims to compare gait characteristics between ID-ASD, DN-ASD, and asymptomatic healthy matched controls.

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene.

Neurodevelopmental disorders (NDDs) result from impaired development and functioning of the brain. Here, we identify loss-of-function variation in as a novel cause for syndromic intellectual disability (ID). ZFHX3, previously known as ATBF1, is a zinc-finger homeodomain transcription factor involved in multiple biological processes including cell differentiation and tumorigenesis.

Effectiveness and cost-effectiveness of dynamic bracing versus standard care alone in patients suffering from osteoporotic vertebral compression fractures: protocol for a multicentre, two-armed, parallel-group randomised controlled trial with 12 months of follow-up.

Introduction: Patients with osteoporosis may suffer from a fracture after minimal trauma. Osteoporotic vertebral compression fractures (OVCFs) are among the most common fractures, often leading to substantial pain. There is a need for evidence-based conservative treatment to aid in the management of OVCFs.

Luminescent Human iPSC-Derived Neurospheroids Enable Modeling of Neurotoxicity After Oxygen-glucose Deprivation.

Despite the considerable impact of stroke on both the individual and on society, a neuroprotective therapy for stroke patients is missing. This is partially due to the current lack of a physiologically relevant human in vitro stroke model. To address this problem, we have developed a luminescent human iPSC-derived neurospheroid model that enables real-time read-out of neural viability after ischemia-like conditions.

Biomechanical Evaluation of Semi-rigid Junctional Fixation Using a Novel Cable Anchor System to Prevent Proximal Junctional Failure in Adult Spinal Deformity Surgery.

Study Design: A porcine cadaveric biomechanical study.

Objective: To biomechanically evaluate a novel Cable Anchor System as semi-rigid junctional fixation technique for the prevention of proximal junctional failure after adult spinal deformity surgery and to make a comparison to alternative promising prophylactic techniques.

Summary Of Background Data: The abrupt change of stiffness at the proximal end of a pedicle screw construct is a major risk factor for the development of proximal junctional failure after adult spinal deformity surgery.

Recurrent chromosomal imbalances provide selective advantage to human embryonic stem cells under enhanced replicative stress conditions.

Human embryonic stem cells (hESCs) and embryonal tumors share a number of common features, including a compromised G1/S checkpoint. Consequently, these rapidly dividing hESCs and cancer cells undergo elevated levels of replicative stress, inducing genomic instability that drives chromosomal imbalances. In this context, it is of interest that long-term in vitro cultured hESCs exhibit a remarkable high incidence of segmental DNA copy number gains, some of which are also highly recurrent in certain malignancies such as 17q gain (17q+).

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.

The CAMTA1-associated phenotype was initially defined in patients with intragenic deletions and duplications who showed nonprogressive congenital ataxia, with or without intellectual disability. Here, we describe 10 individuals with CAMTA1 variants: nine previously unreported (likely) pathogenic variants comprising one missense, four frameshift and four nonsense variants, and one missense variant of unknown significance. Six patients were diagnosed following whole exome sequencing and four individuals with exome-based targeted panel analysis.

Internet usage of women attempting pregnancy and pregnant women in the Netherlands.

Objectives: Research focused on Internet behavior by women attempting pregnancy and pregnant women is scarce. Some research has been done in other countries, however it cannot be assumed those results also apply to Dutch women.

Study Design: A descriptive cross-sectional study was performed using an Internet-questionnaire among women attempting pregnancy and pregnant women.

Effect of a semirigid thoracolumbar orthosis on gait and sagittal alignment in patients with an osteoporotic vertebral compression fracture.

Background: An important goal in the treatment of osteoporotic vertebral compression fractures (OVCFs) is the prevention of new vertebral fractures and the subsequent progression to global sagittal malalignment. Current conservative treatment is multimodal and comprises analgesics, medication for osteoporosis, and physical therapy. However, little is known about the value of orthoses in the treatment of OVCFs.

Gait in patients with symptomatic osteoporotic vertebral compression fractures over 6 months of recovery.

Background: One factor related to disability in people with spinal deformity is decreased postural control and increased risk of falling. However, little is known about the effect of osteoporotic vertebral compression fractures (OVCFs) and their recovery on gait and stability. Walking characteristics of older adults with and without vertebral fractures have not yet been compared.

Prediction of mechanical complications in adult spinal deformity surgery-the GAP score versus the Schwab classification.

Background Context: Surgery for adult spinal deformity is a challenging and complex procedure with high reported complication (8.4%-42%) and revision rates (9%-17.6%).

Implementation of patient-reported outcome measures in appropriateness criteria of surgery for degenerative lumbar scoliosis.

Background Context: Degenerative lumbar scoliosis (DLS) is an increasingly common spinal disorder of which current management is characterized by a substantial variety in treatment advice. To improve evidence-based clinical decision-making and increase uniformity and transparency of care, the Scoliosis Research Society established appropriateness criteria for surgery for DLS. In these criteria, however, the patient perspective was not formally incorporated.

CRISPR/Cas9-mediated genome editing in naïve human embryonic stem cells.

The combination of genome-edited human embryonic stem cells (hESCs) and subsequent neural differentiation is a powerful tool to study neurodevelopmental disorders. Since the naïve state of pluripotency has favourable characteristics for efficient genome-editing, we optimized a workflow for the CRISPR/Cas9 system in these naïve stem cells. Editing efficiencies of respectively 1.

Reduction of intradiscal pressure by the use of polycarbonate-urethane rods as compared to titanium rods in posterior thoracolumbar spinal fixation.

Loss of sagittal alignment and balance in adult spinal deformity can cause severe pain, disability and progressive neurological deficit. When conservative treatment has failed, spinal fusion using rigid instrumentation is currently the salvage treatment to stop further curve progression. However, fusion surgery is associated with high revision rates due to instrumentation failure and proximal junctional failure, especially if patients also suffer from osteoporosis.

Identification of long non-coding RNAs involved in neuronal development and intellectual disability.

Recently, exome sequencing led to the identification of causal mutations in 16-31% of patients with intellectual disability (ID), leaving the underlying cause for many patients unidentified. In this context, the noncoding part of the human genome remains largely unexplored. For many long non-coding RNAs (lncRNAs) a crucial role in neurodevelopment and hence the human brain is anticipated.

Synthesis and characterization of a new vertebroplasty cement based on gold-containing PMMA microspheres.

There are a number of drawbacks to incorporating large concentrations of barium sulfate (BaSO4) as the radiopacifier in PMMA-based bone cements for percutaneous vertebroplasty. These include adverse effects on injectability, viscosity profile, setting time, mechanical properties of the cement and bone resorption. We have synthesized a novel cement that is designed to address some of these drawbacks.

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

Purpose: Submicroscopic deletions of chromosome band 2p25.3 are associated with intellectual disability and/or central obesity. Although MYT1L is believed to be a critical gene responsible for intellectual disability, so far no unequivocal data have confirmed this hypothesis.

Fibroma of tendon sheath located within Kager's triangle.

The formation of a fibroma of the tendon sheath, a rare, slow-growing, benign tumor, usually occurs in the upper extremities of young adult males. We present an extremely rare case of a fibroma of the tendon sheath arising adjacent to the Achilles tendon within Kager's triangle in a 41-year-old female. The patient presented with progressive pain localized to the posterior aspect of the left ankle.

Large animal models in fusionless scoliosis correction research: a literature review.

Background Context: Numerous prenatal, systemic, or local procedures have been described that have created an experimental scoliosis within different animal species. Compression-based fusionless scoliosis correction devices have been used to induce scoliosis (inverse approach) as an indication for their potential corrective efficacy in large animals. Deformities that most closely approximate the three-dimensional nature of an idiopathic-like scoliosis have been created in large animals using a posterior spinal tether.