Health-related quality of life in 205 children with arthrogryposis multiplex congenita.

Purpose: Arthrogryposis multiplex congenita (AMC) describes a heterogeneous group of rare congenital conditions. Health-related quality of life (HRQL) may be reduced in AMC due to broadly heterogeneous physical impairments and participation limitations. This study described HRQL in children and youth with AMC, compared HRQL between child self- and parent-proxy reports, and identified factors associated with better/worse HRQL.

The accordion technique did not improve bone healing in a mouse model of distraction osteogenesis.

Distraction osteogenesis (DO) is a valuable surgical method for limb lengthening and bone defect correction, but its lengthy consolidation phase presents challenges. The accordion technique (AT), involving compression and distraction of bone segments, has shown potential for enhancing healing. This study aimed to investigate the effectiveness of the AT conducted at three different time points (distraction phase, early consolidation phase, or late consolidation phase) compared to conventional DO in a mouse osteotomy model.

Ophthalmological screening guidelines for individuals with Osteogenesis Imperfecta: a scoping review.

Background: Osteogenesis imperfecta (OI) is a connective tissue disorder in which the Type 1 collagen is defective. The eye is a structure rich in collagen Type 1 and is heavily impacted by the disease. Many vision-threatening eye diseases have been associated with OI.

Three-dimensional-printing-guided preoperative planning of upper and lower extremity pediatric orthopedic surgeries: A systematic review of surgical outcomes.

Purpose: Three-dimensional printing has evolved into a cost-effective and accessible tool. In orthopedic surgery, creating patient-specific anatomical models and instrumentation improves visualization and surgical accuracy. In pediatric orthopedics, three-dimensional printing reduces operating time, radiation exposure, and blood loss by enhancing surgical efficacy.

Activation of Wnt signaling in human fracture callus and nonunion tissues.

The Wnt signaling pathway is a key molecular process during fracture repair. Although much of what we now know about the role of this pathway in bone is derived from in vitro and animal studies, the same cannot be said about humans. As such, we hypothesized that Wnt signaling will also be a key process in humans during physiological fracture healing as well as in the development of a nonunion (hypertrophic and oligotrophic).

National Trends in Inpatient Hospital Outcomes of Children with Osteogenesis Imperfecta and the Importance of Extraskeletal Manifestations: A Kids' Inpatient Database Study.

Objective: To investigate the extent of extraskeletal manifestations along with inpatient outcomes and complications associated with osteogenesis imperfecta (OI).

Study Design: This cross-sectional study utilized the Kids' Inpatient Database as a part of the Healthcare Cost and Utilization Project to investigate inpatient hospital outcomes and management in patients with OI from 1997 through 2016. Data regarding hospital characteristics, cost of treatment, inpatient outcomes, and procedures were collected and analyzed.

Pseudoarthrosis of the Distal Humerus in Pediatric Osteogenesis Imperfecta Patients: A Case Series and Literature Review.

Osteogenesis imperfecta (OI) is a rare skeletal disorder that increases a patient's susceptibility to bone fracture. One complication commonly associated with fractures in this population is the occurrence of non-union leading to pseudoarthrosis. In this case series, three cases of non-union of the distal humerus leading to pseudoarthrosis in the pediatric OI population are presented.

Anterior Hemiepiphysiodesis of the Distal Tibia: A Step-by-step Surgical Technique Guide.

Aim: This paper aims to serve as a guide for surgeons to prepare, execute, and perfect anterior hemiepiphysiodesis of the distal tibia (AHDT).

Background: Treatment of persistent or recurrent equinus deformity following multiple conservative and surgical interventions in patients with idiopathic clubfoot or neuromuscular conditions can be challenging, and multiple surgical options are presented in the existing literature. Anterior hemiepiphysiodesis of the distal tibia is an option that seems to be safe and efficient in treating this entity.

Arthrogryposis multiplex congenita: dental and maxillofacial phenotype - A scoping review.

Introduction: Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of disorders associated with decreased fetal movement, with a prevalence between 1/3000 and 1/5200 live births. Typical features of AMC include multiple joint contractures present at birth, and can affect all joints of the body, from the jaw, and involving the upper limbs, lower limbs and spine. The jaws may be affected in 25 % of individuals with AMC, with limited jaw movement and mouth opening.

The Design, Development, and Usability Testing of an eHealth Program for Youths With Osteogenesis Imperfecta: Protocol for a 2-Phase User-Centered Mixed Methods Study.

Background: Innovative approaches are needed to address the self-management needs of youths with osteogenesis imperfecta (OI) transitioning into adult-oriented health care systems. Using a sequentially phased research approach, the goal is to design, develop, and test the usability of an innovative eHealth program called "Teens Taking Charge: Managing OI Online," hereafter named "Teens OI." This program seeks to optimize self-management, facilitate a successful transition to adult care, and address a critical gap in the quality of care for youths with OI.

Distal Femur Anterior Hemiepiphysiodesis for Fixed Knee Flexion Deformity in Neuromuscular Patients: A Systematic Review.

Background: In the past decade, distal femur anterior hemiepiphysiodesis for fixed knee flexion deformity has gained popularity. In this study, we aim to systematically review the literature on this technique as a treatment for fixed knee flexion deformity in patients with neuromuscular disorders.

Methods: A systematic review was performed in the following databases: PubMed, Embase, and Medline.

Humerus Lengthening with a Motorized Intramedullary Nail: A Systematic Review of Outcomes and Complications.

Aim: In the past decade, internal limb lengthening nails have gained popularity. In this study, we aim to systematically review the literature on humerus limb lengthening with a motorized intramedullary nail (MIN). We intend to assess the outcome and complications of this technique.

Metatarsal Gradual Lengthening for Brachymetatarsia Using a Mini-rail External Fixator System.

Aim: To describe the surgical technique for gradual lengthening of the metatarsal using the Orthofix MiniRail System (Orthofix Medical Inc., Lewisville, TX, USA).

Background: Brachymetatarsia refers to the shortening of the metatarsal bone.

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.

Talectomy for arthrogrypotic foot deformities: A systematic review.

Background: Arthrogryposis multiplex congenita (AMC) is one of the most common congenital joint contracture syndromes. Talectomy has been proposed for severe foot deformities in AMC, but the literature is limited. The purpose of this systematic review is to evaluate the indications, outcomes and complications of talectomy in arthrogrypotic foot deformities.

Neglected Monteggia fracture: a review.

Monteggia fracture is characterized by radial head dislocation combined with proximal ulnar fracture. If not diagnosed at an early stage, these lesions can gradually lead to forearm deformities and dysfunction, finally resulting in neglected Monteggia fracture. When the radial head is not reduced, several deformities develop at the humeroradial joint, including cubitus valgus and osteoarthritis.

The use of virtual reality during medical procedures in a pediatric orthopedic setting: A mixed-methods pilot feasibility study.

Medical procedures cause pain and anxiety in children. Distraction techniques, including virtual reality (VR), may be used in healthcare settings to reduce rates of undertreated procedural pain and anxiety. A mixed-methods, concurrent triangulation design was piloted at a pediatric orthopedic hospital to assess the feasibility, clinical utility, tolerability, and initial clinical efficacy of VR distraction during medical procedures received by patients with complex musculoskeletal conditions.

Use of virtual reality in managing paediatric procedural pain and anxiety: An integrative literature review.

Aims: This integrative review aimed to identify, analyse and synthesise studies investigating the clinical efficacy of virtual reality (VR) distraction for children undergoing varying painful and anxiety-inducing medical procedures across different hospital settings and to identify implications for research and clinical practice.

Background: Virtual reality has been leveraged as a distraction tool in the healthcare setting to help patients manage procedural pain and anxiety. Initial studies in the burn wound care setting using VR as a non-pharmacological analgesia led to the use of VR during other medical procedures.

Retrograde Application of Humerus Fassier-Duval Rod in Osteogenesis Imperfecta: A New Surgical Technique.

Background: The aim of this study is to describe the technique of retrograde application of Fassier-Duval (FD) rod for the humerus in patients with osteogenesis imperfecta (OI). This technique was developed to overcome the downsides of the previously used techniques of humerus rodding.

Methods: The study was done at a tertiary care pediatric orthopaedic hospital from April 2014 to August 2021.

Using Telerehabilitation to Deliver a Home Exercise Program to Youth With Arthrogryposis: Single Cohort Pilot Study.

Background: Arthrogryposis multiplex congenita (AMC) is characterized by joint contractures and muscle weakness, which limit daily activities. Youths with AMC require frequent physical therapeutic follow-ups to limit the recurrence of contractures and maintain range of motion (ROM) and muscle strength; however, access to specialized care may be limited because of geographical distance. Telerehabilitation can offer a potential solution for delivering frequent follow-ups for youth with AMC, but research on the use of telerehabilitation in children with musculoskeletal disorders is scarce.

Plethora of Traumatic Lesions of Bilateral Knee Extensor Mechanism in Osteogenesis Imperfecta.

Introduction: Injuries to the quadriceps extensor mechanism are rare in patients with Osteogenesis Imperfecta (OI). To the best of our knowledge, non-union of the patella in OI, either as an isolated problem or in combination with an acute fracture, has not been previously reported.

Case Report: We describe how we surgically approached both the fracture and the non-union simultaneously.