Electrical impedance myography captures features of muscle structure measured by MRI and transcriptomic analysis in facioscapulohumeral muscular dystrophy.

Background: Electrical impedance myography (EIM) has been proposed as an efficient, non-invasive biomarker of muscle composition in facioscapulohumeral muscular dystrophy (FSHD).

Objective: We investigate whether EIM parameters are associated with muscle structure measured by magnetic resonance imaging (MRI), muscle histology, and transcriptomic analysis as well as strength at the individual leg muscle level.

Methods: We performed a multi-center cross-sectional study enrolling 33 patients with FSHD.

Multi-scale machine learning model predicts muscle and functional disease progression.

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic neuromuscular disorder characterized by progressive muscle degeneration with substantial variability in severity and progression patterns. FSHD is a highly heterogeneous disease; however, current clinical metrics used for tracking disease progression lack sensitivity for personalized assessment, which greatly limits the design and execution of clinical trials. This study introduces a multi-scale machine learning framework leveraging whole-body magnetic resonance imaging (MRI) and clinical data to predict regional, muscle, joint, and functional progression in FSHD.

Comparison of Postoperative Airflow Changes in Slide Tracheoplasty Across Surgical Techniques Using Computational Fluid Dynamics.

Objective: Use computational fluid dynamics (CFD) modeling to analyze airflow before and after slide tracheoplasty in a three-dimensional (3D) printed model of congenital tracheal stenosis and to compare surgical techniques.

Study Design: Comparative anatomic and physiologic study using 3D printed trachea models.

Setting: Tertiary children's hospital and mechanical engineering lab.

Dynamic Airway CT for Morphometric Analysis of Pediatric Tracheomalacia Throughout Respiration.

Dynamic airway computed topography (4D-CT) can be used to evaluate the trachea in pediatric patients with tracheomalacia. The 4D-CT enables objective and quantitative evaluation throughout all phases of respiration; however, current systems focus on qualitative review of generated 4D images. Few analytic workflows are available to assist in the extraction of the quantitative geomorphic data generated.

Outcomes of Virtually Assisted Personalized Tracheostomy Tubes for Congenital Airway Anomalies.

Objective(s): To measure clinical outcomes and respiratory trajectories after the placement of virtually assisted personalized tracheostomy tubes (vapTT) designed for patients with congenital airway anomalies (CAA).

Methods: Retrospective review was performed of vapTT candidates, which included patients with CAA experiencing recurrent respiratory failure due to ongoing TT obstruction despite exhaustion of commercially available TT. VapTT design used a previously reported protocol for virtual modeling from CT images correlated with endoscopy findings.

Feedback Enhances Training and Elicits Biometric Responses in Novel Flexible Nasolaryngoscopy Model.

Objectives: To demonstrate the feasibility and impact of auditory feedback in flexible fiberoptic nasolaryngoscopy (FNL) training with a novel model incorporating audio triggers based on known anatomical loci of negative patient feedback.

Methods: This proof-of-concept study used a CT-based 3D-printed and silicone-casted model of nares to mainstem bronchi to teach FNL during an otolaryngology simulation training. The spatially tracked laryngoscope tip triggered simulated responses (pain, gag, cough) when co-localized to specific anatomic landmarks: the nasal septum, epiglottis, and trachea.

Structure From Motion Reconstruction of the Pediatric Larynx: A Clinical Case Series.

Objective: Endoscopy is the gold-standard diagnostic modality for many pediatric airway disorders but does not enable quantitative assessment of airway morphology. In a series of pediatric patients, we aim to demonstrate that structure from motion (SfM) photogrammetry, a computer-vision algorithm, can accurately reconstruct three-dimensional (3D) models of laryngeal anatomy directly from bronchoscopy videos.

Study Design: Prospective case series.

Endoscopic endonasal resection of a craniopharyngioma in a 23-month-old patient: illustrative case.

Background: Treatment of pediatric craniopharyngioma requires a multidisciplinary approach to counsel patients and families on the spectrum of treatment options, including biopsy, radiation, and/or resection. Gross-total resection can avoid radiation and its long-term comorbidities. In very young patients, this is of particular importance but is especially challenging because of anatomical considerations.

AI driven analysis of MRI to measure health and disease progression in FSHD.

Facioscapulohumeral muscular dystrophy (FSHD) affects roughly 1 in 7500 individuals. While at the population level there is a general pattern of affected muscles, there is substantial heterogeneity in muscle expression across- and within-patients. There can also be substantial variation in the pattern of fat and water signal intensity within a single muscle.

Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression.

Identifying the aberrant expression of DUX4 in skeletal muscle as the cause of facioscapulohumeral dystrophy (FSHD) has led to rational therapeutic development and clinical trials. Several studies support the use of MRI characteristics and the expression of DUX4-regulated genes in muscle biopsies as biomarkers of FSHD disease activity and progression. We performed lower-extremity MRI and muscle biopsies in the mid-portion of the tibialis anterior (TA) muscles bilaterally in FSHD subjects and validated our prior reports of the strong association between MRI characteristics and expression of genes regulated by DUX4 and other gene categories associated with FSHD disease activity.

Surface Reconstruction of the Pediatric Larynx via Structure from Motion Photogrammetry: A Pilot Study.

Endoscopy is the gold standard for characterizing pediatric airway disorders, however, it is limited for quantitative analysis due to lack of three-dimensional (3D) vision and poor stereotactic depth perception. We utilize structure from motion (SfM) photogrammetry, to reconstruct 3D surfaces of pathologic and healthy pediatric larynges from monocular two-dimensional (2D) endoscopy. Models of pediatric subglottic stenosis were 3D printed and airway endoscopies were simulated.

Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.

Background: Inactivating mutations in PTEN are among the most common causes of megalencephaly. Activating mutations in other nodes of the PI3K/AKT/MTOR signaling pathway are recognized as a frequent cause of cortical brain malformations. Only recently has PTEN been associated with cortical malformations, and analyses of their prognostic significance have been limited.

Comparative effectiveness of virtual reality (VR) vs 3D printed models of congenital heart disease in resident and nurse practitioner educational experience.

Background: Medical trainees frequently note that cardiac anatomy is difficult to conceive within a two dimensional framework. The specific anatomic defects and the subsequent pathophysiology in flow dynamics may become more apparent when framed in three dimensional models. Given the evidence of improved comprehension using such modeling, this study aimed to contribute further to that understanding by comparing Virtual Reality (VR) and 3D printed models (3DP) in medical education.

Virtually Assisted Personalized Tracheostomy Tube Design in Pediatric Complex Airway Anomalies.

We sought to assess the feasibility of virtually assisted personalized tracheostomy tube (vapTT) implementation for patients with congenital airway anomalies (CAAs) and persistent tracheostomy tube (TT)-related respiratory failure at a tertiary pediatric hospital. Three patients (0-18 years) with CAAs and recurrent TT-related respiratory complications were managed with vapTT over 5 years. Patients underwent airway computed tomography acquisition with 3-dimensional reconstruction and TT virtual modeling for shape customization.

Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth.

Purpose: PIK3CA-related overgrowth spectrum (PROS) conditions of the head and neck are treatment challenges. Traditionally, these conditions require multiple invasive interventions, with incomplete malformation removal, disfigurement, and possible dysfunction. Use of the PI3K inhibitor alpelisib, previously shown to be effective in PROS, has not been reported in PIK3CA-associated head and neck lymphatic malformations (HNLMs) or facial infiltrating lipomatosis (FIL).

Concordance of functional MRI memory task and resting-state functional MRI connectivity used in surgical planning for pediatric temporal lobe epilepsy.

Objective: Assessing memory is often critical in surgical evaluation, although difficult to assess in young children and in patients with variable task abilities. While obtaining interpretable data from task-based functional MRI (fMRI) measures is common in compliant and awake patients, it is not known whether functional connectivity MRI (fcMRI) data show equivalent results. If this were the case, it would have substantial clinical and research generalizability.

Comparison of Slide Tracheoplasty Technique on Postoperative Anatomic Outcomes in Three-Dimensional Printed Models.

Objectives/hypothesis: We hypothesized that the use of three-dimensional (3D) printed tracheal models to reproducibly simulate surgical technique variations in slide tracheoplasty would demonstrate the quantitative impact of surgical variables on postoperative tracheal dimensions.

Study Design: Prospective analysis of three-dimensional printed surgical simulation models.

Methods: Slide tracheoplasty was performed on 3D printed long segment tracheal stenosis models with combinations of tracheal transection incision angle (90°, 45° beveled superior to inferior, 45° beveled inferior to superior) and tracheal transection location relative to the stenosis (at midpoint, 2 mm each superior and inferior to midpoint).

3D models improve understanding of congenital heart disease.

Introduction: Understanding congenital heart disease (CHD) is vital for medical personnel and parents of affected children. While traditional 2D schematics serve as the typical approach used, several studies have shown these models to be limiting in understanding complex structures. Recent world-emphasis has shifted to 3D printed models as a complement to 2D imaging to bridge knowledge and create new opportunities for experiential learning.

Accuracy and Reliability of 4D-CT and Flexible Laryngoscopy in Upper Airway Evaluation in Robin Sequence.

Objectives: To evaluate the performance of 4-dimensional computed tomography (4D-CT) in assessing upper airway obstruction (UAO) in patients with Robin sequence (RS) and compare the accuracy and reliability of 4D-CT and flexible fiber-optic laryngoscopy (FFL).

Study Design: Prospective survey of retrospective clinical data.

Setting: Single, tertiary care pediatric hospital.

Integrating neuroimaging biomarkers into the multicentre, high-dose erythropoietin for asphyxia and encephalopathy (HEAL) trial: rationale, protocol and harmonisation.

Introduction: MRI and MR spectroscopy (MRS) provide early biomarkers of brain injury and treatment response in neonates with hypoxic-ischaemic encephalopathy). Still, there are challenges to incorporating neuroimaging biomarkers into multisite randomised controlled trials. In this paper, we provide the rationale for incorporating MRI and MRS biomarkers into the multisite, phase III high-dose erythropoietin for asphyxia and encephalopathy (HEAL) Trial, the MRI/S protocol and describe the strategies used for harmonisation across multiple MRI platforms.

Longitudinal study of MRI and functional outcome measures in facioscapulohumeral muscular dystrophy.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is a patchy and slowly progressive disease of skeletal muscle. For MRI to be a useful biomarker in an FSHD clinical trial, it should reliably detect changes over relatively short time-intervals (~ 1 year). We hypothesized that fatty change over the study course would be most likely in muscles already demonstrating disease progression, and that the degree of MRI burden would be correlated with function.

4D Computed Tomography for Dynamic Upper Airway Evaluation in Robin Sequence.

Thorough assessment of dynamic upper airway obstruction (UAO) in Robin sequence (RS) is critical, but traditional evaluation modalities have significant limitations. Four-dimensional computed tomography (4D-CT) is promising in that it enables objective and quantitative evaluation throughout all phases of respiration. However, there exist few protocols or analysis tools to assist in obtaining and interpreting the vast amounts of obtained data.

Adapting MRI as a clinical outcome measure for a facioscapulohumeral muscular dystrophy trial of prednisone and tacrolimus: case report.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is a patchy and slowly progressive disease of skeletal muscle. MRI short tau inversion recovery (STIR) sequences of patient muscles often show increased hyperintensity that is hypothesized to be associated with inflammation. This is supported by the presence of inflammatory changes on biopsies of STIR-positive muscles.

Structural MRI and tract-based spatial statistical analysis of diffusion tensor imaging in children with hemimegalencephaly.

Purpose: To investigate the gross white matter abnormalities in the structural brain MR imaging as well as white matter microstructural alterations using tract-based spatial statistics (TBSS) analysis of diffusion tensor imaging (DTI) in both affected and contralateral cerebral hemispheres of children with hemimegalencephaly (HMEG).

Methods: From 2003 to 2019, we retrospectively reviewed brain MR images in 20 children (11 boys, 2 days-16.5 years) with HMEG, focusing on gross white matter abnormalities.