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Physical and Physiological Reponses and Adaptations
Published in Michael H. Stone, Timothy J. Suchomel, W. Guy Hornsby, John P. Wagle, Aaron J. Cunanan, Strength and Conditioning in Sports, 2023
Michael H. Stone, Timothy J. Suchomel, W. Guy Hornsby, John P. Wagle, Aaron J. Cunanan
Motor control involves a basic pattern of nervous system activity and at the same time improving motor control is a complex process and a critical factor in sport performance. The intent to perform a movement is developed in the higher brain centers and transferred to the motor cortex. The motor cortex transmits signals by way of the brainstem and spinal cord to the appropriate motor neurons.
Ion Channels in Human Pluripotent Stem Cells and Their Neural Derivatives
Published in Tian-Le Xu, Long-Jun Wu, Nonclassical Ion Channels in the Nervous System, 2021
Ritika Raghavan, Robert Juniewicz, Maharaib Syed, Michael Lin, Peng Jiang
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by a progressive degeneration of motor nerve cells in the brain (upper motor neurons) and spinal cord (lower motor neurons). About 20% of familial ALS cases involve a mutation in the superoxide dismutase 1 (SOD1) gene (80). Different theories posit either the involvement of excessive glutamatergic neurotransmission, leading to calcium overload, and cell death, or the involvement of increased axonal membrane excitability, which could be caused by either increased persistent sodium or reduced delayed-rectifier potassium currents (81–84). In a recent study which conducted multi electrode array (MEA) and patch-clamp recordings on ALS hiPSC-derived neurons, it was observed that these neurons fired significantly more spontaneous APs relative to neurons derived from their isogenic control lines (85). By using gene targeting and homologous recombination techniques, the SOD1 mutation was corrected in the iPSC lines and the electrophysiological properties were recorded. The corrected neurons showed spiking rates similar to that of the isogenic control lines. Upon the application of retigabine, a specific activator of subthreshold KV7 (KCNQ) currents and a known anticonvulsant, the hyperexcitability phenotype of ALS motor neurons was rescued.
Progressive Neurological Diseases
Published in Amy J. Litterini, Christopher M. Wilson, Physical Activity and Rehabilitation in Life-threatening Illness, 2021
Christopher M. Wilson, Amy J. Litterini
ALS is initially a diagnosis of exclusion, where other possible neurological causes of symptomatology are ruled out by the absence of electromyographic and neuroimaging proof of other diagnoses. According to the El Escorial criteria, after ruling out other neurologic conditions, the specific diagnosis is made with evidence of: lower motor neuron degeneration by clinical, electrophysiological, and or neuropathological examination; evidence of upper motor neuron degeneration by clinical examination; and progressive spread of signs and symptoms within a region, or throughout another region of the body, by history and examination.31
TAR DNA-binding protein of 43 kDa (TDP-43) and amyotrophic lateral sclerosis (ALS): a promising therapeutic target
Published in Expert Opinion on Therapeutic Targets, 2022
Yara Al Ojaimi, Audrey Dangoumau, Hugo Alarcan, Rudolf Hergesheimer, Patrick Vourc’h, Philippe Corcia, Débora Lanznaster, Hélène Blasco
Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig’s disease is a fast-progressing paralytic neurodegenerative disease that leads to the irreversible degeneration of the upper and lower motor neurons. It is the most common motor neuron disease. 90% of ALS cases are sporadic (sALS), while only 10% are familial cases (fALS). Various disease-causing mutations have been identified with the most common pathogenic variants occurring in the C9ORF72, SOD1, TARDBP and FUS genes. The pathogenesis of ALS is complex and still poorly understood. An interplay between genetics and environmental factors is likely to contribute to the disease. Several pathological mechanisms have been identified so far, including glutamate excitotoxicity, oxidative stress, mitochondrial dysfunction, neuroinflammation, alterations of mRNA processing, and the accumulation of protein aggregates such as Transactive response DNA binding Protein (TDP-43). TDP-43 is an evolutionary conserved protein that is involved in transcriptional and post-transcriptional regulation. Under normal physiological conditions, TDP-43 is mainly localized in the nucleus. However, toxic cytoplasmic aggregates of TDP-43 have been found in several neuropathologies, particularly in ALS where 97% of patients displayed such aggregates in neurons and glial cells, making it a hallmark of the disease [1,2].
Clinical features and diagnostic tools in idiopathic inflammatory myopathies
Published in Critical Reviews in Clinical Laboratory Sciences, 2022
Konstantinos I. Tsamis, Constantinos Boutsoras, Evripidis Kaltsonoudis, Eleftherios Pelechas, Ilias P. Nikas, Yannis V. Simos, Paraskevi V. Voulgari, Ioannis Sarmas
In early stages of the disease, due to findings of atrophy and weakness and before the tendon reflexes are diminished, the clinician may consider motor neuron disease as a possible diagnosis. EMG, although needed to orientate the investigation toward muscle pathology, shows nonspecific results. As most cases are diagnosed approximately 5 years from onset, EMG results are often consistent with a chronic myopathy presenting both neuropathic and myopathic findings. Thus, needle EMG examination may be difficult to interpret as both small-short and large-long motor unit action potentials (MUAPs) can be found even in the same muscle. In rare cases, the large-long MUAP may be even more prominent. The recruitment pattern can also be doubtful. Evidence of denervation such as fibrillation potentials and positive sharp waves are present. These cases are even more complicated, as in one-third to one-half of the patients, the nerve conduction studies highlight a mild sensory or sensorimotor neuropathy that is often associated with comorbidities of older age. For other patients with IBM, the EMG findings are typical of IIMs, including small-short and polyphasic MUAPs that often are associated with proximal weakness. It is noteworthy that the disease has an asymmetric pattern and that not all muscles are affected equally [112].
The experiences of well-being of family caregivers in palliative care: A qualitative study using thematic analysis
Published in Progress in Palliative Care, 2021
Tan Seng Beng, Yeoh Kee Ying, Cheah Ai Xin, Lim Ee Jane, Dong Chooi Lin, Lim Poh Khuen, David Paul Capelle, Sheriza Izwa Zainuddin, Loh Ee Chin, Lam Chee Loong
This study has a several limitations. Our inclusion criterion of well-being was subjective. Convenience sampling was used. Recruitment was done in the hospital. Community palliative care was not included. It was a single center study. The majority of family caregivers were children. Studies have shown that different types of family caregivers have different levels of psychological well-being.25,26 It remains unknown whether increasing the number of other family caregivers will add further insight into caregivers’ well-being. Most were taking care of cancer patients. Two were caring for patients with motor neuron disease. None was caring for patients with dementia or other types of organ failure. Since cancer often follows a different trajectory compared to organ failure and dementia, caregivers’ well-being are likely to vary according to the trajectory. All these factors limit the generalization of the results. However, the goal of qualitative study is not to generalize but to provide a rich, contextualized understanding of some aspect of human experiences.27 Transcripts and findings were not returned to participants for comment and feedback.