Perioperative Complications Following Spine Surgery in Adult Patients with Achondroplasia.

Study Design: Retrospective cohort study.

Objectives: To describe the common types of complications and their risk factors during spine surgery in patients with achondroplasia.

Methods: A retrospective review was performed of medical records of adult achondroplasia patients who underwent spine surgery at our institution between 2007 and 2021.

Definition of Tweener: Consensus Among Experts in Treating Early-onset Scoliosis.

Background: The term "Tweener" is colloquially used to refer to early-onset scoliosis (EOS) patients whose age and development make them candidates for multiple surgical options. The purpose of this study was to establish expert consensus on a definition to formally characterize the Tweener population.

Methods: A 3-round survey of surgeons in an international EOS study group was conducted.

Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta.

Context: Osteogenesis imperfecta (OI) is a genetic disorder characterized by increased bone fragility largely caused by defects in structure, synthesis, or post-translational processing of type I collagen. The effectiveness of medications used for fracture reduction in adults with OI is understudied and practice recommendations are not well established. Drugs currently used to improve skeletal health in OI were initially developed to treat osteoporosis.

The incidence of avascular necrosis in children with cerebral palsy after hip containment surgery.

Purpose: To establish the rate of avascular necrosis after hip reconstruction surgery in children with cerebral palsy and to identify risk factors that influence the development of avascular necrosis in this population.

Methods: An institutional review board-approved retrospective review was conducted on children with cerebral palsy who underwent hip containment surgery at a single institution. Radiographs were evaluated at three time points.

Lysyl hydroxylase 3-mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV).

Collagens are the most abundant proteins in the body and among the most biosynthetically complex. A molecular ensemble of over 20 endoplasmic reticulum resident proteins participates in collagen biosynthesis and contributes to heterogeneous post-translational modifications. Pathogenic variants in genes encoding collagens cause connective tissue disorders, including osteogenesis imperfecta, Ehlers-Danlos syndrome, and Gould syndrome (caused by mutations in COL4A1 and COL4A2), and pathogenic variants in genes encoding proteins required for collagen biosynthesis can cause similar but overlapping clinical phenotypes.

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.

EMILIN1 (elastin-microfibril-interface-located-protein-1) is a structural component of the elastic fiber network and localizes to the interface between the fibrillin microfibril scaffold and the elastin core. How EMILIN1 contributes to connective tissue integrity is not fully understood. Here, we report bi-allelic EMILIN1 loss-of-function variants causative for an entity combining cutis laxa, arterial tortuosity, aneurysm formation, and bone fragility, resembling autosomal-recessive cutis laxa type 1B, due to EFEMP2 (FBLN4) deficiency.

A 10-Year Review of Designated Leadership Positions of the American Orthopaedic Foot & Ankle Society (AOFAS).

Background: In 2019 the majority of US medical students were women (50.5%). However, despite this representation, female representation within orthopaedic surgery remains low when compared to male counterparts.

Epidemiology, aetiology, interventions and genomics in children with arthrogryposis multiplex congenita: protocol for a multisite registry.

Introduction: Arthrogryposis multiplex congenita (AMC) is an umbrella term including hundreds of conditions with the common clinical manifestation of multiple congenital contractures. AMC affects 1 in 3000 live births and is caused by lack of movement in utero. To understand the long-term needs of individuals diagnosed with a rare condition, it is essential to know the prevalence, aetiology and functional outcomes in a large sample.

IL-1Ra gene transfer potentiates BMP2-mediated bone healing by redirecting osteogenesis toward endochondral ossification.

An estimated 100,000 patients each year in the United States suffer severe disability from bone defects that fail to heal, a condition where bone-regenerative therapies could provide substantial clinical benefits. Although recombinant human bone morphogenetic protein-2 (rhBMP2) is an osteogenic growth factor that is clinically approved for this purpose, it is only effective when used at exceedingly high doses that incur substantial costs, induce severe inflammation, produce adverse side effects, and form morphologically abnormal bone. Using a validated rat femoral segmental defect model, we show that bone formed in response to clinically relevant doses of rhBMP2 is accompanied by elevated expression of interleukin-1 (IL-1).

Vertebrate extracellular matrix protein hemicentin-1 interacts physically and genetically with basement membrane protein nidogen-2.

Hemicentins are large proteins of the extracellular matrix that belong to the fibulin family and play pivotal roles during development and homeostasis of a variety of invertebrate and vertebrate tissues. However, bona fide interaction partners of hemicentins have not been described as yet. Here, applying surface plasmon resonance spectroscopy and co-immunoprecipitation, we identify the basement membrane protein nidogen-2 (NID2) as a binding partner of mouse and zebrafish hemicentin-1 (HMCN1), in line with the formerly described essential role of mouse HMCN1 in basement membrane integrity.

3D Gait Analysis and Patient-reported Outcomes of Femoral Osteotomies for Torsional Deformity.

Background: Idiopathic torsional deformities causing pain and/or functional difficulty is an indication for a femoral derotational osteotomy (FDRO). Past studies have focused entirely on children with internal femoral torsional deformity (IFTD). This study aims to compare gait and outcomes between children with IFTD and those with external femoral torsional deformity (EFTD) after a FDRO.

The SHOnet learning health system: Infrastructure for continuous learning in pediatric rehabilitation.

Introduction: To describe the development and implementation of learning health system (LHS) infrastructure for a pediatric specialty care health system to support LHS research in pediatric rehabilitation settings.

Methods: An existing pediatric common data model (eg, PEDSnet) of standardized medical terminologies for research was expanded and leveraged for this stud, and applied to SHOnet, a clinical research data resource consisting of deidentified data extracted from the electronic health record (EHR) from the Shriners Hospitals for Children speacialty pediatric health care system. We mapped EHR data for laboratory, procedures, drugs, and conditions to standardized vocabularies including ICD-10, CPT, RxNorm, and LOINC to the common data model using an established extraction-transformation-loading process.

Collagen X Biomarker (CXM), Linear Growth, and Bone Development in a Vitamin D Intervention Study in Infants.

Collagen X biomarker (CXM) is suggested to be a biomarker of linear growth velocity. However, early childhood data are limited. This study examines the relationship of CXM to the linear growth rate and bone development, including the possible modifying effects of vitamin D supplementation.

The Effects of Lower Extremity Rotational Malalignment on Pediatric Patient-reported Outcomes Measurement and Information System (PROMIS) Scores.

Background: There is sparse literature demonstrating the relationship between lower limb pediatric idiopathic rotational malalignment (IRM) and patient-reported outcomes measurement information system (PROMIS) scores. Our goal is to determine and quantify the amount that IRM deformities, as measured with the 3D gait analysis, affect childrens' pain interference, mobility, and peer relationship PROMIS domains. Secondary outcomes include investigating the potential relationships between IRM and various subgroups (Pediatric Outcomes Data Collection Instrument (PODCI), gender, Body Mass Index (BMI), femur Versus tibia).

Contraindications to magnetically controlled growing rods: consensus among experts in treating early onset scoliosis.

Purpose: The purpose of this study was to describe contraindications to the magnetically controlled growing rod (MCGR) in patients with early onset scoliosis (EOS) by establishing consensus amongst expert surgeons who treat these patients frequently.

Methods: Nine pediatric spine surgeons from an international EOS study group participated in semi-structured interviews via email to identify factors that influence decision making in the use of MCGR. A 39-question survey was then developed to specify these factors as contraindications for MCGR-these included patient age and size, etiology, medical comorbidities, coronal and sagittal curve profiles, and skin and soft tissue characteristics.

Anchoring Cords: A Distinct Suprastructure in the Developing Skin.

AMACO (VWA2 protein) is a basement membrane-associated protein secreted by epithelial cells. It is strongly expressed when invagination or budding occurs during development. AMACO associates with the Fraser complex, which when mutated causes Fraser syndrome, characterized by subepidermal blistering, cryptophthalmos, and syndactyly.

Pediatric orthopedic injury prevention for team sports post COVID-19.

Queries of youth orthopedic sports injuries from the U.S. National Electronic Surveillance System, a database from the Consumer Product Safety Commission, demonstrate decreased orthopedic injuries related to team sports during the COVID-19 pandemic, indicative of reduced sports participation.

Habituation and Dishabituation in Motor Behavior: Experiment and Neural Dynamic Model.

Does motor behavior early in development have the same signatures of habituation, dishabituation, and Spencer-Thompson dishabituation known from infant perception and cognition? And do these signatures explain the choice preferences in A not B motor decision tasks? We provide new empirical evidence that gives an affirmative answer to the first question together with a unified neural dynamic model that gives an affirmative answer to the second question.In the perceptual and cognitive domains, habituation is the weakening of an orientation response to a stimulus over perceptual experience. Switching to a novel stimulus leads to dishabituation, the re-establishment of the orientation response.

In vivo topical gene therapy for recessive dystrophic epidermolysis bullosa: a phase 1 and 2 trial.

Recessive dystrophic epidermolysis bullosa (RDEB) is a lifelong genodermatosis associated with blistering, wounding, and scarring caused by mutations in COL7A1, the gene encoding the anchoring fibril component, collagen VII (C7). Here, we evaluated beremagene geperpavec (B-VEC), an engineered, non-replicating COL7A1 containing herpes simplex virus type 1 (HSV-1) vector, to treat RDEB skin. B-VEC restored C7 expression in RDEB keratinocytes, fibroblasts, RDEB mice and human RDEB xenografts.

Collagen X Marker Levels are Decreased in Individuals with Achondroplasia.

Collagen X marker (CXM) is a degradation fragment of collagen type X. It is a real-time biomarker of height velocity with established norms. Plasma C-type natriuretic peptide (CNP) and NTproCNP levels have also been found to correlate with growth velocity in the general population and are elevated in individuals with achondroplasia compared with age- and sex-matched controls.