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1.
Journal of Genetic Medicine ; : 105-109, 2021.
Article in English | WPRIM | ID: wpr-915028

ABSTRACT

Tetrasomy 18p is a genetic syndrome caused by an isochromosome consisting of two copies of the short arm of chromosome 18. Clinically, pediatric cases of tetrasomy 18p manifest with global developmental delay, similar to most cases of chromosomal abnormality. In addition, it causes various symptoms including abnormal muscle tone. We report a case of an infant with global developmental delay and remarkable spasticity, the typical phenotype of bilateral spastic cerebral palsy. However, she had a subtle anomaly in her face, and brain magnetic resonance imaging (MRI) findings were inconsistent with her strong upper motor neuron signs. Upon genetic testing, she was determined to have an 18p isochromosome, confirming de novo non-mosaic tetrasomy 18p. Cerebral palsy is a neurological disorder that includes developmental delay caused by a non-progressive lesion in the developing brain. During diagnostic workup in patients with cerebral palsy, genetic testing should be considered when there are minor physical anomalies or equivocal MRI findings.

2.
Clinical Pain ; (2): 16-22, 2020.
Article in Korean | WPRIM | ID: wpr-897858

ABSTRACT

Objective@#Recent studies have shown that repetitive peripheral magnetic stimulation (rPMS) reduces pain in various conditions. This pilot study aimed to investigate the effects of rPMS depending on the pain characteristics. Method: Adult patients aged 19∼85 years evaluated at our institution between September 1, 2017 and February 28, 2018 for subacute to chronic musculoskeletal pain equivalent to a numeric rating scale of 3 or higher for at least one month were enrolled. Pain scores as determined using a numeric rating scale at baseline and at the end of treatment were set as the primary outcome. Additionally, we classified the pain into nociceptive, intermediate, or neuropathic pain using the PainDETECT questionnaire and compared the responsiveness to rPMS according to the type of pain. @*Results@#The average pain scores significantly decreased after the 2-week rPMS treatment in all enrolled subjects (p<0.001). There was no statistically significant difference in pain reduction between groups divided by PainDETECT questionnaire. @*Conclusion@#This study suggests that rPMS could safely relieve various types of pain.

3.
Clinical Pain ; (2): 16-22, 2020.
Article in Korean | WPRIM | ID: wpr-890154

ABSTRACT

Objective@#Recent studies have shown that repetitive peripheral magnetic stimulation (rPMS) reduces pain in various conditions. This pilot study aimed to investigate the effects of rPMS depending on the pain characteristics. Method: Adult patients aged 19∼85 years evaluated at our institution between September 1, 2017 and February 28, 2018 for subacute to chronic musculoskeletal pain equivalent to a numeric rating scale of 3 or higher for at least one month were enrolled. Pain scores as determined using a numeric rating scale at baseline and at the end of treatment were set as the primary outcome. Additionally, we classified the pain into nociceptive, intermediate, or neuropathic pain using the PainDETECT questionnaire and compared the responsiveness to rPMS according to the type of pain. @*Results@#The average pain scores significantly decreased after the 2-week rPMS treatment in all enrolled subjects (p<0.001). There was no statistically significant difference in pain reduction between groups divided by PainDETECT questionnaire. @*Conclusion@#This study suggests that rPMS could safely relieve various types of pain.

4.
Neurology Asia ; : 215-219, 2020.
Article in English | WPRIM | ID: wpr-877218

ABSTRACT

@#The right hand of a 58-year-old female was compressed by a compression machine and subsequently began to show pain. She was diagnosed with complex regional pain syndrome type 2 according to the Budapest criteria. Conventional therapy was ineffective for her allodynia. After subcutaneous injection of botulinum toxin, the subject’s allodynia substantially improved. Subcutaneous injection of botulinum toxin could effectively treat patients with complex regional pain syndrome and intractable allodynia. Clinical studies with larger sample sizes are needed to evaluate the efficacy of and selection of patients for botulinum toxin treatment of complex regional pain syndrome.

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