ABSTRACT
Background@#and Purpose Cognitive and behavioral changes are common in amyotrophic lateral sclerosis (ALS), with about 15% of patients presenting with overt frontotemporal dementia and 30%–50% with varying degrees of impairments. We aimed to develop and validate the Korean version of the Edinburgh Cognitive and Behavioral ALS Screen (ECAS-K), a brief multidomain assessment tool developed for ALS patients with physical disability. @*Methods@#We developed the ECAS-K according to the translation guidelines, and administered it to 38 patients with ALS and 26 age- and education-level-matched controls. We also administered the Montreal Cognitive Assessment (MoCA) and Frontal Assessment Battery (FAB) to investigate convergent validity, and the Center for Neurologic Study-Liability Scale to assess the association between pseudobulbar affect and cognitive/behavioral changes. @*Results@#Internal consistency among the ECAS-K test items was found to be high, with a Cronbach’s alpha of 0.87. Significant differences were found between patients with ALS and the controls in language, fluency, and memory functions (p<0.05). Abnormal performance based on the ECAS total score was noted in 39.4% of patients, and 66.6% presented behavioral changes in at least one domain. Significant correlations were observed between the scores of the ECAS-K and those of other cognitive screening tools (MoCA and FAB, with correlation coefficients of 0.69 and 0.55, respectively; p<0.01). @*Conclusions@#We developed and validated the ECAS-K which could be used as an effective tool to screen the cognitive and behavioral impairments in Korean patients with ALS.
ABSTRACT
Genetic muscle diseases encompass a group of conditions where genetic alterations affect skeletal muscles, leading to muscle weakness and hypotonia. Presently, the focus of treatment is on managing symptoms rather than addressing the root cause of the disease. However, recent advancements in gene therapy offer potential cure for these diseases, with over 180 genes identified as contributing factors. Encouraging results have emerged from preclinical trials conducted using animal models, prompting the initiation of several clinical trials aimed at assessing the safety and efficacy of gene therapy in human patients. In this review, we aim to provide an overview of the fundamental concept of gene therapy and discuss ongoing clinical trials that hold promise for curing genetic muscle diseases.
ABSTRACT
Background@#and Purpose Serum insulin-like growth factor-1 (IGF-1) is known to have a neuroprotective effect. This study aimed to determine the effects of serum IGF-1 on the severity and clinical outcome of acute ischemic stroke (AIS). @*Methods@#This study included 446 patients with AIS who were admitted to Hallym University Sacred Heart Hospital within 7 days of stroke onset from February 2014 to June 2017. Serum IGF-1 levels were measured within 24 hours of admission. Stroke severity was measured using the National Institutes of Health Stroke Scale (NIHSS) score at admission, and the functional outcome at 3 months after symptom onset was assessed using the modified Rankin Scale score. The effects of serum IGF-1 levels on stroke severity and 3-month functional outcomes were analyzed using multivariate logistic regression analysis. @*Results@#This study evaluated 379 patients with AIS (age 67.2±12.6 years, mean±standard deviation; 59.9% males) after excluding 67 patients who had a history of previous stroke (n=25) or were lost to follow-up at 3 months (n=42). After adjusting for clinically relevant covariates, a higher serum IGF-1 level was associated with a lower NIHSS score at admission (adjusted odds ratio=0.44, 95% confidence interval=0.24–0.80, p=0.01), while there was no significant association at 3 months. @*Conclusions@#This study showed that a higher serum IGF-1 level is associated with a lower NIHSS score at admission but not at 3 months. Further studies are required to clarify the usefulness of the serum IGF-1 level as a prognostic marker for ischemic stroke.
ABSTRACT
Background@#and Purpose Serum insulin-like growth factor-1 (IGF-1) is known to have a neuroprotective effect. This study aimed to determine the effects of serum IGF-1 on the severity and clinical outcome of acute ischemic stroke (AIS). @*Methods@#This study included 446 patients with AIS who were admitted to Hallym University Sacred Heart Hospital within 7 days of stroke onset from February 2014 to June 2017. Serum IGF-1 levels were measured within 24 hours of admission. Stroke severity was measured using the National Institutes of Health Stroke Scale (NIHSS) score at admission, and the functional outcome at 3 months after symptom onset was assessed using the modified Rankin Scale score. The effects of serum IGF-1 levels on stroke severity and 3-month functional outcomes were analyzed using multivariate logistic regression analysis. @*Results@#This study evaluated 379 patients with AIS (age 67.2±12.6 years, mean±standard deviation; 59.9% males) after excluding 67 patients who had a history of previous stroke (n=25) or were lost to follow-up at 3 months (n=42). After adjusting for clinically relevant covariates, a higher serum IGF-1 level was associated with a lower NIHSS score at admission (adjusted odds ratio=0.44, 95% confidence interval=0.24–0.80, p=0.01), while there was no significant association at 3 months. @*Conclusions@#This study showed that a higher serum IGF-1 level is associated with a lower NIHSS score at admission but not at 3 months. Further studies are required to clarify the usefulness of the serum IGF-1 level as a prognostic marker for ischemic stroke.