Background: Spinal muscular atrophy (SMA) type 1 is a severe condition leading to early respiratory failure. Treatment options have become available, yet respiratory outcome measures in SMA type 1 are limited. The aim of this study was to assess the...
30 August 2021
The purpose of this study was to investigate the functional relationships between selected ranges of motion of the neck, upper and lower limbs, the strength of the neck and trunk muscles, postural parameters, and the motor function of children with S...
Background: Disease-modifying therapies (DMTs) have transformed the natural history of spinal muscular atrophy (SMA) type 1, revealing heterogeneous developmental trajectories and renewing interest in cognitive and language outcomes beyond gross moto...
Aim and Objectives: The objective of our retrospective study was to investigate the changes in pNFH levels in cerebrospinal fluid, which is a reliable marker of neuronal damage, after the loading dose of nusinersen in different types of spinal muscul...
Background: Spinal Muscular Atrophy type 1 (SMA type 1) is a genetic neuromuscular disease that typically presents before 6 months of age and is characterized by profound hypotonia, progressive muscle weakness, and early involvement of respiratory an...
Background: 5q spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder characterized by progressive muscle weakness. Nusinersen, the first disease-modifying therapy for SMA, has demonstrated efficacy in both clinical trials and real-worl...
Background: Spinal muscular atrophy (SMA) is an inherited neuromuscular disease characterized by progressive muscle weakness and atrophy due to the absence of the survival motor neuron 1 (SMN1) gene. SMA is classified into types 0 through 4 based on...
Spinal muscular atrophy (SMA) is a rare, autosomal recessive neuromuscular disease. Recent years have seen a significant development of therapeutic options for SMA patients. With the development of treatment methods, it has become necessary to adapt...
Patients with spinal muscular atrophy type 1 (SMA-1) requiring invasive ventilation can be eligible for gene therapy if they tolerate at least 8 h off ventilation per day. We aimed to assess the short-term safety and efficacy of gene therapy (onasemn...
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder causing progressive muscle weakness. Severe SMA forms are typically observed up to six months postnatally. Disease-modifying therapies provide significant benefits, making newborn screeni...
Background: In recent years, rapid advances in diagnosis and treatment have been observed in spinal muscular atrophy (SMA) patients. The introduction of modern therapies and screening tests has significantly changed the clinical picture of the diseas...
Background This study examines spinal muscular atrophy (SMA), a neuromuscular disease associated with malnutrition. Our goals are to assess how effectively screening tools can detect malnutrition and evaluate the impact of nutritional interventions o...
This paper presents the design and validation of a traceability system, based on radio frequency identification (RFID) technology and Internet of Things (IoT) services, intended to address the interconnection and cost-implementation problems typical...
Chinese privet (Ligustrum sinense) was the most prevalent invasive shrub in the forestlands of Eastern Texas in 2006. We analyzed extensive field data collected by the Forest Inventory and Analysis Program of the U.S. Forest Service to quantify the r...
A new infrared thermometer, sensitive to wavelengths between 3 μm and 3.5 μm, has been developed. It is based on an Indium Arsenide Antimony (InAsSb) photodiode, a transimpedance amplifier, and a sapphire fiber optic cable. The thermometer used...
Given the excessive demolition of structures each year, the issues related to the generated structural waste are striking. Bricks being a major constituent in the construction industry, also hold a significant proportion of the construction waste gen...
(1) Background: To investigate the real-world effectiveness and safety profile of nusinersen in Croatian paediatric and adult spinal muscular atrophy (SMA) patients. (2) Methods: A retrospective and anonymous collection of relevant demographic and cl...
Endoplasmic reticulum (ER) stress and its adaptive mechanism, the unfolded protein response (UPR), are triggered by the accumulation of unfolded and misfolded proteins. During osteoclastogenesis, a large number of active proteins are synthesized. Whe...
Novel targeted therapies have transformed spinal muscular atrophy from a condition with a predictable, severe course into a more heterogeneous disorder with a range of new clinical phenotypes and outcomes. The emergence of new phenotypes in spinal mu...
Alternative fuel within the meaning of Directive 2014/94/EU is, among others, LPG (liquefied petroleum gas), characterized by a lower purchase cost and lower emissions of toxic exhaust compounds in comparison to the combustion of classic gasoline. In...
(1) Background: Data on combination or sequential treatment of spinal muscular atrophy (SMA) with disease-modifying drugs (DMDs) are missing and the latter field is poorly understood. The currently available data of patients on risdiplam previously t...
Objectives: To describe longitudinal changes in functional performance, movement quality, respiratory function, and exploratory biological changes during intensive rehabilitation based on neuroproprioceptive “facilitation and inhibition”...
A compost program was developed on-farm, utilizing tree trimming biomass from a commercial pecan farm comprised of 14-year-old improved cultivar Western Schley pecan (Carya illinoinensis) tree stands. The direct soil application of shredded pecan tre...