• Annals of Clinical Neurophysiology
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• v.6 no.1
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• pp.1-13
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• 2004

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder that primarily affects motor neurons. The characteristic features of this devastating disorder are the simultaneous presence of upper and lower motor neuron (LMN) signs with progression from one region of the neuraxis to the next and eventual death, typically from respiratory compromise. Electrophysiological studies are an indispensible part of the ALS evaluation, especially serving as an extension of the clinical examination, and most useful in identifying LMN dysfunction. Not only may electrodiagnostic studies reveal characteristic changes in those regions clinically manifesting signs, but it also serves to disclose asymptomatic areas of involvement.

• Journal of Chest Surgery
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• v.48 no.2
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• pp.151-154
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• 2015

Extensive tumoral calcinosis affecting a large joint is uncommon in patients with systemic sclerosis. We report the case of a 52-year-old female patient referred for a growing calcified mass in the shoulder. She was diagnosed with interstitial lung disease and progressive systemic sclerosis. Although the pain and disability associated with the affected joint was not severe, the patient underwent surgical excision because the mass continued to grow and was likely to produce shoulder dysfunction and skin ulceration. The patient appeared well 10 months after surgery with no signs of recurrence. This report highlights the timing and indication of surgical excision in similar cases.

• Annals of Clinical Neurophysiology
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• v.10 no.1
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• pp.62-65
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• 2008

We report a patient with amyotrophic lateral sclerosis (ALS) who developed a pneumothorax after needle electromyography (EMG), probably of the intercostal muscles. Needle EMG on intercostal muscles has a high risk of pneumothorax, not only because electromyographers are unfamiliar to its technique, but also due to its close anatomical location to the pleural cavity. In our patient, advanced intercostal muscle atrophy due to disease process would have increased the risk further.

• Annals of Clinical Neurophysiology
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• v.17 no.1
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• pp.1-16
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• 2015

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that is characterized by progressive death of motor neurons in the cortex, brainstem, and spinal cord. Until now, many treatment strategies have been tested in ALS, but so far only Riluzole has shown efficacy of slightly slowing disease progression. The pathophysiological mechanisms underlying ALS are multifactorial, with a complex interaction between genetic factors and molecular pathways. Other motor neuron disease such as spinal muscular atrophy (SMA) and spinobulbar muscular atrophy (SBMA) are also progressive neurodegenerative disease with loss of motor neuron as ALS. This common thread of motor neuron loss has provided a target for the development of therapies for these motor neuron diseases. A better understanding of these pathogenic mechanisms and the potential pathological relationship between the various cellular processes have suggested novel therapeutic approaches, including stem cell and genetics-based strategies, providing hope for feasible treatment of ALS.

• Proceedings of the KSMRM Conference
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• 2001.11a
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• pp.168-168
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• 2001

Purpose： Cerebral perfusion, as measured by interictal SPECT and PET, is known to be decreased in the affected hippocampus of the patients with hippocampal sclerosis. The purpose of th study is to evaluate the capability of perfusion MR imaging to demonstrate ipsilate hypopefusion in patients with hippocampal sclerosis.

• Annals of Clinical Neurophysiology
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• v.22 no.1
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• pp.33-36
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• 2020

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder with numerous causes that include genetic factors. Efforts to reveal the genetics of ALS have identified several candidate genes that are associated with familial and sporadic ALS. Here we report a Korean ALS patient who showed prominent upper motor-neuron-related symptoms with marked brain atrophy and neuropsychological deficits. The findings were highly suggestive of ALS in a patient with a likely pathogenic FIG4 variant.

• Clinical and Experimental Pediatrics
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• v.54 no.6
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• pp.241-245
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• 2011

Tuberous sclerosis complex (TSC) is a genetic multisystem disorder that results from mutations in the TSC1 or TSC2 genes, and is associated with hamartomas in several organs, including subependymal giant cell tumors. The neurological manifestations of TSC are particularly challenging and include infantile spasms, intractable epilepsy, cognitive disabilities, and autism. The TSC1- and TSC2-encoded proteins modulate cell function via the mammalian target of rapamycin (mTOR) signaling cascade, and are key factors in the regulation of cell growth and proliferation. The mTOR pathway provides an intersection for an intricate network of protein cascades that respond to cellular nutrition, energy levels, and growth factor stimulation. In the brain, TSC1 and TSC2 have been implicated in cell body size, dendritic arborization, axonal outgrowth and targeting, neuronal migration, cortical lamination, and spine formation. The mTOR pathway represents a logical candidate for drug targeting, because mTOR regulates multiple cellular functions that may contribute to epileptogenesis, including protein synthesis, cell growth and proliferation, and synaptic plasticity. Antagonism of the mTOR pathway with rapamycin and related compounds may provide new therapeutic options for TSC patients.

• Journal of Dental Anesthesia and Pain Medicine
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• v.17 no.3
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• pp.235-240
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• 2017

Pulseless electrical activity (PEA) is a clinical condition characterized by unresponsiveness and lack of palpable pulse in the presence of organized cardiac electrical activity and is caused by a profound cardiovascular insult (e.g., severe prolonged hypoxia or acidosis, extreme hypovolemia, or flow-restricting pulmonary embolus). Amyotrophic lateral sclerosis (ALS) is a disease that is characterized by progressive degeneration of all levels of the motor nervous system. Damage to the respiratory system and weakness of the muscles may increase the likelihood of an emergency situation occurring in patients with ALS while under general anesthesia. We report a case of PEA during the induction of general anesthesia in a patient with ALS who presented for dental treatment and discuss the causes of PEA and necessary considerations for general anesthesia in patients with ALS.

• Journal of muscle and joint health
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• v.15 no.2
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• pp.140-154
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• 2008

Purpose: The purpose of this study was to describe the adjustment process of patients with Amyotrophic Lateral Sclerosis(ALS). Method: The data were collected from May 2007 to February 2008 through individual in-depth interviews with 4 ALS patients. The data collection and analysis were performed according to grounded theory methodology, as suggested by Strauss and Corbin. Results: 'Accepting the sick role' was the central phenomenon, which was derived from 'perceiving an intial symptom'. Therefore, the adjustment pattern was represented by using the different strategies, which were 'raising hope' and 'hoping to dye comfortably'. For taking a view of the future, ALS patients adopted the strategies of 'living positively', 'being treated hardly', 'joining in the experience', 'depending on the absolute being', 'recognizing the dying process'. Conclusion: This study provides guidance for the development of nursing interventions for patients with ALS.

• Annals of Clinical Neurophysiology
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• v.5 no.1
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• pp.27-33
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• 2003

Background: Motor unit number estimation (MUNE) can directly assess motor neuron populations in muscle and quantify the degree of physiologic and/or pathologic motor neuron degeneration. A high degree of reproducibility and reliability is required from a good quantitative tool. MUNE, in various ways, is being increasingly applied clinically and statistical MUNE has several advantages over alternative techniques. Nevertheless, the optimal method of applying statistical MUNE to improve reproducibility has not been established. Methods: We performed statistical MUNE by selecting the most compensated compound muscle action potential (CMAP) area as a test area and modified the results obtained by weighted mean surface-recorded motor unit potential (SMUP). Results: MUNE measures in amyotrophic lateral sclerosis (ALS) patients showed better reproducibility with sizeweighted modification. Conclusions: We suggest size-weighted MUNE testing of "neurogenically compensated"CMAP areas present an optimal method for statistical MUNE in ALS patients.