The effect of mechanical ventilation on respiratory muscle echogenicity in critically ill children: an observational cohort study.

Background: Respiratory muscle weakness is common in critically ill children. Changes in respiratory muscle structure play pivotal role in the development of weakness. Echogenicity is a non-invasive marker to detect structural changes in skeletal muscles.

Advancements in imaging techniques for monitoring the respiratory muscles.

This review highlights the latest advancements in imaging techniques for monitoring respiratory muscles in critically ill patients. At the bedside, conventional ultrasound has been widely adopted to measure diaphragm thickness, thickening and excursion. It has also been used to assess extradiaphragmatic respiratory muscles, including parasternal intercostal and abdominal muscles.

Machine learning-driven Heckmatt grading in facioscapulohumeral muscular dystrophy: A novel pathway for musculoskeletal ultrasound analysis.

Objective: This study introduces a machine learning approach to automate muscle ultrasound analysis, aiming to improve objectivity and efficiency in segmentation, classification, and Heckmatt grading.

Methods: We analyzed a dataset of 25,005 B-mode images from 290 participants (110 FSHD patients) acquired using a single Esaote ultrasound scanner with a standardized protocol. Manual segmentation and Heckmatt grading by experienced observers served as ground truth.

A Likely Pathogenic variant in the Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6.

Background: Nemaline myopathy type 6 (NEM6) or KBTBD13-related congenital myopathy is the most prevalent type of nemaline myopathy in the Netherlands and is characterised by mild childhood-onset axial, proximal and distal muscle weakness with prominent neck flexor weakness combined with slowness of movements. The most prevalent variant in the Netherlands is the c.1222C > T p.

A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands.

Nemaline myopathy (NM) is a congenital myopathy with generalised muscle weakness, most pronounced in neck flexor, bulbar and respiratory muscles. The aim of this cross-sectional study was to assess the Dutch NM patient cohort. We assessed medical history, physical examination, quality of life (QoL), fatigue severity, motor function (MFM), and respiratory muscle function.

Improving Heckmatt muscle ultrasound grading scale through Rasch analysis.

The 4-point Heckmatt grading scale can easily be used to analyze muscle ultrasound images. The scale is used in an expanding set of muscles and neuromuscular disorders. This prompted the need for evaluation of the measurement properties of the scale in its current form.

Future Directions for Respiratory Muscle Training in Neuromuscular Disorders: A Scoping Review.

Background: Respiratory muscle training (RMT) aims to improve inspiratory and/or expiratory muscle function in neuromuscular disorders (NMDs). A comprehensive overview of the available literature is lacking. This scoping review explores methodological characteristics, (adverse) effects, and adherence of RMT studies in NMDs.

24-Hour Ex Vivo Hypothermic Acellular Perfusion of Porcine Forelimb: A 7-Day Follow-up Study.

Background: One of the limiting factors for vascularized composite allograft storage is the short viable ischemic time (4 to 6 hours). Hypothermic machine perfusion enables near-physiologic preservation, avoiding the deleterious effects of hypoxia and static cooling. This study aims to compare muscle injury after 24-hour acellular perfusion with static cold storage (SCS) in a porcine limb replantation model, examining outcomes for up to 7 days after reperfusion.

Respiratory function in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a 1.5-year natural history study.

Introduction: LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON(SEPN1)-related congenital myopathy (SELENON-RM) are rare neuromuscular diseases with respiratory impairment from a young age. Prospective natural history studies are needed for prevalence estimations, respiratory characterization, optimizing clinical care and selecting outcome measures for trial readiness.

Methods: Our prospective 1.

Comparison of muscle ultrasound and needle electromyography findings in neuromuscular disorders.

Introduction/aims: Needle electromyography (EMG) and muscle ultrasound can be used to evaluate patients with suspected neuromuscular disorders. The relation between muscle ultrasound pathology and the corresponding needle EMG findings is unknown. In this study we compared the results of concurrent ultrasound and needle EMG examinations in patients suspected of a neuromuscular disorder.

-Related Muscular Dystrophy Across the Life Span: A Cross-sectional Study.

Background And Objectives: -related muscular dystrophy (-MD) is a rare neuromuscular disease characterized by proximal and axial muscle weakness, rigidity of the spine, scoliosis, and respiratory impairment. No curative treatment options exist, yet promising preclinical studies are ongoing. Currently, there is a paucity on natural history data, and appropriate clinical and functional outcome measures are needed.

Inspiratory Muscle Training in Nemaline Myopathy.

Background: Respiratory muscle weakness is a common feature in nemaline myopathy. Inspiratory muscle training (IMT) is an intervention that aims to improve inspiratory muscle strength.

Objective: The aim of this controlled before-and-after pilot study was to investigate if IMT improves respiratory muscle strength in patients with nemaline myopathy.

Respiratory features of centronuclear myopathy in the Netherlands.

Centronuclear myopathy (CNM) is a heterogeneous group of muscle disorders primarily characterized by muscle weakness and variable degrees of respiratory dysfunction caused by mutations in MTM1, DNM2, RYR1, TTN and BIN1. X-linked myotubular myopathy has been the focus of recent natural history studies and clinical trials. Data on respiratory function for other genotypes is limited.

Longitudinal Analysis of Quadriceps Muscle Strength in Patients with Previous COVID-19 Hospitalization and in Patients with Post-Acute Sequelae following Mild COVID-19.

Muscle weakness is a prominent symptom in post-acute sequelae of COVID-19 (PASC). However, few studies have objectively and longitudinally assessed muscle strength after varying COVID-19 severity grades. This observational study aimed to explore the prevalence, determinants, and 1.

Reproducibility and robustness of motor cortical stimulation to assess muscle relaxation kinetics.

Transcranial magnetic stimulation (TMS) of the motor cortex can be used during a voluntary contraction to inhibit corticospinal drive to the muscle and consequently induce involuntary muscle relaxation. Our aim was to evaluate the reproducibility and the effect of varying experimental conditions (robustness) of TMS-induced muscle relaxation. Relaxation of deep finger flexors was assessed in 10 healthy subjects (5 M, 5 F) using handgrip dynamometry with normalized peak relaxation rate as main outcome measure, that is, peak relaxation rate divided by (voluntary plus TMS-evoked)force prior to relaxation.

Muscle ultrasound is a sensitive biomarker in oculopharyngeal muscular dystrophy.

Introduction/aims: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset, progressive muscle disease. Quantitative muscle ultrasound (QMUS) assesses structural changes in muscles and is a sensitive biomarker in neuromuscular disorders. Our aim of this study was to determine whether QMUS can detect muscle pathology and can be used as longitudinal imaging biomarker in OPMD.

Respiratory muscle function in patients with nemaline myopathy.

In this cross-sectional study, we comprehensively assessed respiratory muscle function in various clinical forms of nemaline myopathy (NM) including non-volitional tests for diaphragm function. Forty-two patients with NM were included (10 males (25-74 y/o); 32 females (11-76 y/o)). The NM forms were typical (n=11), mild (n=7), or childhood-onset with slowness of movements (n=24).

Visual versus quantitative analysis of muscle ultrasound in neuromuscular disease.

Introduction/aims: Visual and quantitative muscle ultrasound are both valid diagnostic tools in neuromuscular diseases. To optimize muscle ultrasound evaluation and facilitate its use in neuromuscular disease, we examined the correlation between visual and quantitative muscle ultrasound analysis and their pitfalls.

Methods: Retrospective data from 994 patients with 13,562 muscle ultrasound images were analyzed.

Association of diaphragm thickness and echogenicity with age, sex, and body mass index in healthy subjects.

Introduction/aims: Diaphragm ultrasound is increasingly used in the diagnosis of diaphragm dysfunction and to guide respiratory management in patients with neuromuscular disorders and those who are critically ill. However, the association between diaphragm ultrasound variables and demographic factors like age, sex, and body mass index (BMI) are understudied. Such relationships are important for correct interpretation of normative values and comparison with selected patients groups.