Neuromuscular diseases

Triosephosphate isomerase deficiency (TPI DF) is a severe multisystem degenerative disease, manifested clinically as hemolytic anemia, neuromuscular abnormalities, and susceptibility to infection, frequently leading to death within 5 years of onset. There is a lack of effective clinical treatment as the pathogenesis underlying TPI DF remains largely unknown. In this study, we generate a transgenic zebrafish line [Tg(Ubi:TPI1E105D -eGFP)] with the human TPI1E105D (hTPI1E105D ) mutation, which is the most recurrent mutation in TPI DF patients...

No abstract text is available yet for this article.

INTRODUCTION: Health care costs and societal impact of myasthenia gravis (MG), a potentially life-threatening rare, chronic neuromuscular disease are sparsely studied. We assessed healthcare resource utilization (HCRU) and associated costs among patients with newly diagnosed (ND) and pre-existing (PE) MG in Sweden. METHODS: This observational, retrospective cohort study used data from four linkable Swedish nationwide population-based registries. Adult MG patients receiving pharmacological treatment for MG and having ≥ 24-month follow-up during the period 1/1/2010 to 12/31/2017 were included...

BACKGROUND: Adolescent idiopathic scoliosis (AIS) is the most common vertebral disorder in adolescence. OBJECTIVES: The purpose of this study was to compare the effectiveness of Schroth and Lyon exercise methods on Cobb angle (CA), angle of trunk rotation (ATR), quality of life (QoL), and perceived trunk appearance in patients with AIS. METHODS: The 31 participants diagnosed (diagnosis age = 12.2 ± 0.9) with AIS by a physician following the Lenke criteria and subsequently referred to the outpatient clinic were enrolled in the study...

STUDY OBJECTIVES: Congenital central hypoventilation syndrome (CCHS) is a rare disease predisposing children to respiratory failure due to abnormal ventilatory drive. Variability in hypoventilation and respiratory support need have been reported. We aim to identify clinical variables associated with incident tracheostomy and common etiologies of hospitalization among children with CCHS. METHODS: Hospital discharge records were obtained for children (<21 years) with CCHS hospitalized between 2006 and 2019 from the Kid's Inpatient Database...

Despite its proven research applications, it remains unknown whether surface electromyography (sEMG) can be used clinically to discriminate non-lame from lame conditions in horses. This study compared the classification performance of sEMG absolute value (sEMGabs) and asymmetry (sEMGasym) parameters, alongside validated kinematic upper-body asymmetry parameters, for distinguishing non-lame from induced fore- (iFL) and hindlimb (iHL) lameness. Bilateral sEMG and 3D-kinematic data were collected from clinically non-lame horses ( n  = 8) during in-hand trot...

Nerve injuries present a substantial challenge within the medical domain due to their prevalent occurrence and significant impact. In nerve injuries, a range of physiopathological and metabolic responses come into play to stabilize and repair the resulting damage. A critical concern arises from the disruption of connections at neuromuscular junctions, leading to profound degeneration and substantial loss of muscle function, thereby hampering motor tasks. While end-to-end neurorrhaphy serves as the established technique for treating peripheral nerve injuries, achieving comprehensive morphofunctional recovery remains a formidable challenge...

Azathioprine is recommended as the first-line steroid-sparing immunosuppressive agent for myasthenia gravis. Mycophenolate and methotrexate are often considered as second-line choices despite widespread consensus on their efficacy. We aimed to gather real-world data comparing the tolerability and reasons for discontinuation for these agents, by performing a national United Kingdom survey of side effects and reasons for discontinuation of immunosuppressants in myasthenia gravis. Of 235 patients, 166 had taken azathioprine, 102 mycophenolate, and 40 methotrexate...

BACKGROUND: Cervical sagittal alignment is crucial for distributing the head load to lower cervical segments and maintaining normal cervical spine function, but its biomechanical effect on the cervical spine was not fully elucidated. OBJECTIVE: To investigate the effect of cervical sagittal alignment on dynamic intervertebral kinematics. DESIGN: Cross-sectional study. METHODS: Healthy participants without neck pain were recruited and divided into lordosis, straight and kyphosis groups according to the C2-C7 Cobb angle at the neutral position...

PURPOSE: To develop a multidisciplinary outpatient rehabilitation intervention for people with neuromuscular diseases (NMD) based on the capability approach: capability care for persons with NMD. MATERIALS AND METHODS: The development process is described using a framework of actions for intervention development. It has been an iterative process consisting of a design phase based on theoretical insights and project group discussions, and a refine phase involving input from relevant stakeholders...

Knee osteoarthritis is among the most prevalent chronic diseases. Total knee arthroplasty is a common solution that effectively addresses the continued structural degeneration of the articular cartilage. However, effective physical therapy is critical for recovery. Despite participating in physical therapy, many patients fail to recover. This study investigated the potential efficacy of a behaviorally informed approach to surface electromyographic biofeedback following total knee arthroplasty relative to the clinical standard, neuromuscular electrical stimulation...

INTRODUCTION: The advancement of surgical techniques and perioperative management for congenital heart disease (CHD) has increased life expectancy. The surgical creation of the Fontan circulation maintains pulmonary blood flow without relying on an effective pump from the abnormal heart, relying on peripheral vascular resistance to maintain effective flow through the lungs. Unfortunately, this delicate mechanism is compromised when scoliosis restricts ventilation, leading to Fontan failure and a poor prognosis for life...

AIM: To explore the diagnostic value of serum-derived exosomal miRNAs and predict the roles of their target genes in Alzheimer's disease (AD) based on the expression of miRNAs in AD patients. METHODS: We determined the relative concentration of exosomal miRNAs by High-throughput Second-generation Sequencing and real-time quantitative real-time PCR. RESULTS: 71 AD patients and 71 ND subjects were collected. The study demonstrated that hsa-miR-125b-1-3p, hsa-miR-193a-5p, hsa-miR-378a-3p, hsa-miR-378i and hsa-miR-451a are differentially expressed in the serum-derived exosomes of AD patients compared with healthy subjects...

Spirometry and peak cough flow testing (PCF) are commonly used in the respiratory assessment of children with a neuromuscular disorder (NMD). Testing uses two different machines, increases laboratory time, costs and resource utilisation. No studies have assessed the correlation between peak expiratory flow (PEF) obtained from spirometry and PCF in children with NMD using one device. An audit of children with a NMD managed at the Children's Hospital at Westmead in 2022-2024 aged < 20 years who performed spirometry and PCF testing on the same device (Vyaire Body BoxTM , Ultrasonic flow meter-based, or Vyaire PneumotachographTM , Pneumotach flow meter-based; Germany) was conducted to assess the correlation between PCF and PEF...

There is an increasing demand for the assessment of sleep-disordered breathing in children of all ages to prevent the deleterious neurocognitive and behaviour consequences of the under-diagnosis and under-treatment of obstructive sleep apnoea [OSA]. OSA can be considered in three broad categories based on predominating contributory features: OSA type 1 [enlarged tonsils and adenoids], type II [Obesity] and type III [craniofacial abnormalities, syndromal, storage diseases and neuromuscular conditions]. The reality is that sleep questionnaires or calculations of body mass index in isolation are poorly predictive of OSA in individuals...

BACKGROUND: Results regarding the associations between hypertension-related parameters and physical performance in older adults are conflicting. A possible explanation for these divergent results is that investigations may not have adjusted their analyses according to the use of angiotensin-converting enzyme inhibitors (ACEIs). OBJECTIVES: To examine the associations between hypertension-related parameters, ACEI use, and a set of physical performance tests in very old adults...

No abstract text is available yet for this article.

BACKGROUND: Chronic neck pain (CNP) is a prevalent musculoskeletal condition including notable impairments in respiratory function. The diaphragm, serving dual roles in respiration and spinal stability, is intricately linked to the cervical spine through fascial, neurophysiological, and biomechanical connections. However, to date, none has investigated the diaphragm function in patients with CNP. OBJECTIVES: To investigate the diaphragm function, respiratory muscle strength, and pulmonary function in patients with CNP...

BACKGROUND: In patients with diabetic polyneuropathy (DPN), differences in postural control due to losing the lower limb somatosensory information were reported. However, it is still unclear by which mechanisms the dynamic postural instability is caused. OBJECTIVES: This study aimed to investigate postural control differences and neuromuscular adaptations resulting from foot somatosensory loss due to DPN. METHODS: In this controlled cross-sectional study, fourteen DPN patients and fourteen healthy controls performed the Functional Reach Test (FRT) as a dynamic task...

BACKGROUND: In the early stages of multiple sclerosis (MS), there are no objective sensitive functional assessments to identify and quantify early subclinical neuromuscular deficits and lower limb strength asymmetries during complex movements. Single-countermovement jumps (SLCMJ), a maximum single leg vertical jump, on a force plate allow functional evaluation of unilateral lower limb performance in performance diagnostics and could therefore provide early results on asymmetries in MS...