• Journal of Genetic Medicine
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• 제14권2호
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• pp.75-79
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• 2017

Duchenne and Becker muscular dystrophies (DMD and BMD, respectively) are X-linked neuromuscular disorders characterized by progressive muscle weakness and severe skeletal muscle degeneration. BMD is a milder form with a later onset. Patients with BMD tend to survive much longer than those with DMD. The differentiation between DMD and BMD is important in the genetic counseling of affected patients and their families. Since muscle biopsies are invasive procedures, the differential diagnosis of BMD and DMD is often dependent on the mutation identified in the DMD gene in affected patients. However, when a novel DMD mutation is identified, the differential diagnosis should be based on muscle biopsy findings with other clinical findings. Here we describe two Korean patients with BMD confirmed by muscle biopsy and genetic testing. Two novel exonic deletions in the DMD gene were identified.

• 대한물리의학회지
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• 제10권3호
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• pp.101-108
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• 2015

PURPOSE: This study researched the effects of the changes of elbow joint angle and of arm position in PNF pattern on muscle activation of the contralateral shoulder muscles while performing PNF pattern exercise. METHODS: The research subjects were 16 male physical therapists who had no neuromuscular or neurological disorders. To measure the muscle activation of the contralateral shoulder muscles, EMG electrodes were attached to the muscle valley of the middle and posterior areas of the deltoid and triceps muscles of the arm. Muscle activation while performing the ulnar thrust PNF pattern exercise was measured with the elbow joint positioned at angles of $30^{\circ}$, $45^{\circ}$, and $60^{\circ}$. Resistance points were at the initial, middle, and end ranges of PNF pattern exercise. RESULTS: Muscle activation of the middle and posterior portions of the deltoid muscle increased significantly according to the changes of elbow joint angle. In each resistance point the middle range was significantly higher than at other points. A significant difference on muscle activation was demonstrated throughout each range depending on the type of muscle. Muscle activation of the middle and posterior portions of the deltoid muscle was higher than muscle activation of the triceps. CONCLUSION: The results of this study demonstrate that the PNF pattern exercising method used in this study is a selective exercising method focusing on the deltoid muscle over the triceps muscle. In order to increase the muscle strength to the maximum level, it is necessary to provide the maximum level of resistance in the middle range of the elbow joint.

• Safety and Health at Work
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• 제3권4호
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• pp.257-267
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• 2012

Occupational neurotoxic diseases have become increasingly common in Taiwan due to industrialization. Over the past 40 years, Taiwan has transformed from an agricultural society to an industrial society. The most common neurotoxic diseases also changed from organophosphate poisoning to heavy metal intoxication, and then to organic solvent and semiconductor agent poisoning. The nervous system is particularly vulnerable to toxic agents because of its high metabolic rate. Neurological manifestations may be transient or permanent, and may range from cognitive dysfunction, cerebellar ataxia, Parkinsonism, sensorimotor neuropathy and autonomic dysfunction to neuromuscular junction disorders. This study attempts to provide a review of the major outbreaks of occupational neurotoxins from 1968 to 2012. A total of 16 occupational neurotoxins, including organophosphates, toxic gases, heavy metals, organic solvents, and other toxic chemicals, were reviewed. Peer-reviewed articles related to the electrophysiology, neuroimaging, treatment and long-term follow up of these neurotoxic diseases were also obtained. The heavy metals involved consisted of lead, manganese, organic tin, mercury, arsenic, and thallium. The organic solvents included n-hexane, toluene, mixed solvents and carbon disulfide. Toxic gases such as carbon monoxide, and hydrogen sulfide were also included, along with toxic chemicals including polychlorinated biphenyls, tetramethylammonium hydroxide, organophosphates, and dimethylamine borane. In addition we attempted to correlate these events to the timeline of industrial development in Taiwan. By researching this topic, the hope is that it may help other developing countries to improve industrial hygiene and promote occupational safety and health care during the process of industrialization.

• PNF and Movement
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• 제18권2호
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• pp.287-296
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• 2020

Purpose: The study aims were to develop a wearable inertial sensor-based gait analysis device that uses machine learning algorithms, and to validate this novel device using temporal gait parameters. Methods: Thirty-four healthy young participants (22 male, 12 female, aged 25.76 years) with no musculoskeletal disorders were asked to walk at three different speeds. As they walked, data were simultaneously collected by a motion capture system and inertial measurement units (Reseed®). The data were sent to a machine learning algorithm adapted to the wearable inertial sensor-based gait analysis device. The validity of the newly developed instrument was assessed by comparing it to data from the motion capture system. Results: At normal speeds, intra-class correlation coefficients (ICC) for the temporal gait parameters were excellent (ICC [2, 1], 0.99~0.99), and coefficient of variation (CV) error values were insignificant for all gait parameters (0.31~1.08%). At slow speeds, ICCs for the temporal gait parameters were excellent (ICC [2, 1], 0.98~0.99), and CV error values were very small for all gait parameters (0.33~1.24%). At the fastest speeds, ICCs for temporal gait parameters were excellent (ICC [2, 1], 0.86~0.99) but less impressive than for the other speeds. CV error values were small for all gait parameters (0.17~5.58%). Conclusion: These results confirm that both the wearable inertial sensor-based gait analysis device and the machine learning algorithms have strong concurrent validity for temporal variables. On that basis, this novel wearable device is likely to prove useful for establishing temporal gait parameters while assessing gait.

• PNF and Movement
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• 제17권3호
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• pp.391-399
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• 2019

Purpose: This study investigated the three-dimensional moment values of the hip joint for subjects with artificial leg length alterations and subjects with unaltered leg lengths. Methods: Forty-two healthy adults (8 men, 34 women) participated in this study. The selected subjects were able to walk normally, had less than a 1 cm leg length discrepancy, and were instructed to wear shoes that fit their feet. The study participants performed 8 dynamic gait trails to measure the hip joint moment using a three-dimensional motion analysis system. Kinetic and dynamic three-dimensional gait analysis data were collected from infrared cameras, and a force plate was used to standardize the weight of each subject. Results: There were significant correlations between the differences in the leg length discrepancy during right extension, right flexion, right internal rotation, and left extension in hip joint moments (p<0.05). There were significant correlations between the differences in shoe conditions during left extension, right flexion, right extension, and right internal rotation in the hip moments (p<0.05). Conclusion: This study suggests that a leg length discrepancy can affect hip joint moment, which may further exacerbate musculoskeletal disorders, such as osteoarthritis in lower extremity joints. Therefore, further studies should be conducted to verify the impact of clinical interventions on differences in hip joint moment values to correct leg length discrepancies and prevent osteoarthritis in lower extremity joints.

• PNF and Movement
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• 제17권2호
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• pp.329-337
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• 2019

Purpose: Ultrasound imaging is commonly used to measure the pennation angle of human skeletal muscles in vivo. However, manual assessment of the pennation angle using ultrasound images is subjective and time-consuming and requires a high level of examiner skill. The architectural analysis of human skeletal muscles is thus challenging. Automated approaches using image processing techniques are therefore required to estimate the pennation angle in ultrasound images. The purpose of this study was thus to assess the intra-tester and inter-tester reliability and validity of the pennation angle using an automatic measurement program. Methods: Twenty-two healthy young adults (mean age = 22.55 years) with no medical history of neurological or musculoskeletal disorders voluntarily participated in this study. Ultrasound imaging was used to measure the pennation angle of the gastrocnemius muscle at rest. One examiner acquired images from all the participants. The intra-tester and inter-tester reliability were evaluated using the intraclass correlation coefficient (ICC) to estimate reliability. Validity was measured using Pearson's correlation coefficient. Results: The intra-rater reliability was excellent for the automatic pennation angle measuring program and the manual pennation angle assessment method (ICC>0.95). The inter-rater reliability was also excellent for both methods (ICC>0.93). All the correlation coefficients for the automatic pennation angle measuring program and the manual pennation angle assessment method were 0.79, which indicated a significantly positive correlation (p<0.05). Conclusion: Pennation angle measurement using the automatic pennation angle measuring program showed acceptable reliability and validity. This study therefore demonstrated that the automatic measuring program was able to automatically measure the pennation angle of skeletal muscles using ultrasound images, and thus made it easy to investigate skeletal muscle architecture.

• Journal of Genetic Medicine
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• 제17권2호
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• pp.73-78
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• 2020

Purpose: Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of disorders characterized by impaired neuromuscular transmission. This study aims to provide the clue for early diagnosis and improved therapeutic strategies in CMS. Materials and Methods: Through the targeted panel sequencing including twenty CMS causative genes, eleven patients were genetically confirmed and enrolled in this study. A retrospective medical record review was carried out for the clinical and laboratory data analysis. Results: The age of patients ranged from 5 to 23 years, with the median age of 16 years. The peak age at onset of symptoms was the neonatal period. Seven out of the eleven patients were symptomatic at birth. The most commonly reported initial finding was generalized hypotonia with poor sucking and crying. Mean time to accurate diagnosis was 9.3±5.0 years. Total fifteen different variants in seven genes associated with CMS (DOK7, AGRN, RAPSN, CHRNE, COLQ, SLC5A7, and GFPT1) were identified. Conclusion: We describe the clinical and genetic characteristics of CMS patients and treatment outcome in a single tertiary center. High clinical suspicion and timely molecular diagnosis is particularly important for the tailored therapy to maximize clinical improvement in CMS.

• PNF and Movement
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• 제19권2호
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• pp.195-203
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• 2021

Purpose: Neurodynamic tests are used to examine neural tissue in patients with neuro-musculoskeletal disorders, although this has not yet been established in the intensity of nerve tension application. This study aimed to investigate the acute effects of neural stretching intensity on nerve excitability using the latency and amplitude of nerve conduction velocity test (NCV) analysis. Methods: Thirty young, healthy male and female subjects (mean age = 21.30 years) voluntarily participated in this study. Nerve excitability was assessed using the median sensory NCV test. The latency and amplitude of the NCV test were measured under four different conditions: reference phase (supra-maximal stimulus, without neural stretching), baseline phase (2/3 of the supra-maximal stimulus, without neural stretching), weak stretch phase (2/3 of the supra-maximal stimulus, with weak neural stretching), and strong stretch phase (2/3 of the supra-maximal stimulus, with strong neural stretching). Results: The NCV latency was significantly delayed after one minute of neural stretching at the baseline, weak phase, and strong phase in comparison with the reference phase. The NCV latency was significantly delayed by increasing the strength of neural stretching. Furthermore, the NCV amplitude was significantly increased at the weak and strong phases, which were under neural stretching, in comparison with the baseline phase. The NCV amplitude was significantly increased by increasing the strength of the neural stretching. Conclusion: Transient neural stretching as a neurodynamic test can increase the sensitivity of the nerve without negatively affecting the nervous system. However, based on the results of this study, strong neural stretching in the neurodynamic test may delay the transmission of nerve impulses and hypersensitivity.

• 한국초지조사료학회지
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• 제42권3호
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• pp.201-207
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• 2022

Fescues, which are widely cultivated as grasses and forages around the world, are often naturally infected with the endophyte, Epichloë. This fungus, transmitted through seeds, imparts resistance to drying and herbivorous insects in its host without causing any external damage, thereby contributing to the adaptation of the host to the environment and maintaining a symbiosis. However, some endophytes, such as E. coenophialum synthesize ergovaline or lolitrem B, which accumulate in the plant and impart anti-mammalian properties. For example, when livestock consume excessive amounts of grass containing toxic endophytes, problems associated with neuromuscular abnormalities, such as convulsions, paralysis, high fever, decreased milk production, reproductive disorders, and even death, can occur. Therefore, pre-inoculation with non-toxic endogenous fungi or management with endophyte-free grass is important in preventing damage to livestock and producing high-quality forage. To date, the diagnosis of endophytes has been mainly performed by observation under a microscope following staining, or by performing an immune blot assay using a monoclonal antibody. Recently, the polymerase chain reaction (PCR)-based molecular diagnostic method is gaining importance in the fields of agriculture, livestock, and healthcare given the method's advantages. These include faster results, with greater accuracy and sensitivity than those obtained using conventional diagnostic methods. For the diagnosis of endophytes, the nested PCR method is the only available option developed; however, it is limited by the fact that the level of toxic alkaloid synthesis cannot be estimated. Therefore, in this study, we aimed to develop a triplex real-time PCR diagnostic method that can determine the presence or absence of endophyte infection using DNA extracted from seeds within 1 h, while simultaneously detecting easD and LtmC genes, which are related to toxic alkaloid synthesis. This new method was then also applied to real field samples.

• Clinical Pain
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• 제18권2호
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• pp.70-75
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• 2019

Objective: The purpose of this study is to evaluate the usefulness of infrared thermography in patients with carpal tunnel syndrome by comparing with electrodiagnostic and ultrasonographic findings. Method: From January 2014 to October 2017, electrodiagnosis, ultrasound, and digital infrared thermal image (DITI) of unilateral carpal tunnel syndrome diagnosed in a single hospital were retrospectively analyzed. The subjects with bilateral symptoms of carpal tunnel syndrome, peripheral vascular disease, diabetes, thyroid disease, fibromyalgia, rheumatic disease, systemic infection, inflammation, malignant tumor, and other musculoskeletal disorders such as finger osteoarthritis, peripheral neuropathy, cervical radiculopathy, and the previous history of surgery were excluded. Results: Of 53 patients diagnosed with carpal tunnel syndrome, 11 were male and 42 were female. The visual analogue scale was 4.9 ± 1.9, and the duration of symptom was 11.8 ± 12.5 months. There was no statistically significant difference in the body surface temperature between the unaffected and affected sides. The severity of symptoms, electrodiagnostic findings, and cross-sectional area of the median nerve significantly correlates to each other. The temperature difference between the second fingers of the affected and unaffected sides showed a weak correlation with the amplitude of sensory nerve action potential and onset latency of compound muscle action potential, when there was no significant correlation with the other parameters. Conclusion: The difference in temperature on the surface of the body, which can be confirmed by DITI, is little diagnostic value when DITI is performed in unilateral carpal tunnel syndrome patients, especially when compared with ultrasonography.