• Journal of Genetic Medicine
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• 제17권2호
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• pp.79-82
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• 2020

In epilepsy-aphasia spectrum (EAS) disorders, mutations in the glutamate receptor ionotropic N-methyl-D-aspartate type subunit 2A (GRIN2A) have become important for screening the disease. Research into the phenotypic variability of several types of neurologic impairment involving these mutations is in progress. However, the non-neurological problems related to these mutations are poorly understood. EAS disorders usually have epileptic, cognitive, or behavioral manifestations. In this case report, we present a female patient with epilepsy, delay in expressive language and social development, and intellectual disability with low intelligence quotient and memory quotient, but normal motor development. Through genetic analysis, she was found to have a missense and a nonsense mutation in GRIN2A (c.1770A>C; p.Lys509Asn and c.3187G>T; p.Glu1063∗, respectively) and we consider the nonsense mutation as 'pathogenic variant'. She was also discovered to have congenital hypothyroidism, growth hormone deficiency and Rathke's cleft cyst in the brain, which were previously unknown features of GRIN2A mutation. Our findings should widen understanding of the spectrum of GRIN2A phenotypes, and emphasize the need for more research into the association between GRIN2A mutations and non-neurologic clinical presentations.

• Journal of mucopolysaccharidosis and rare diseases
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• 제5권1호
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• pp.1-7
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• 2021

Gaucher disease (GD, OMIM #230800 OMIM#230800) is a rare, autosomal recessive inherited metabolic disorder caused by mutation in GBA1 encoding the lysosomal enzyme, glucocerebrosidase. The deficiency of glucocerebrosidase leads to an accumulation of its substrate, glucosylceramide in macrophages of various tissues. Common clinical manifestations include cytopenia, splenomegaly, hepatomegaly, and bone lesions. The phenotype of GD is classified into three clinical categories: Type 1 (non-neuronopathic) is characterized by involvements on the viscera, whereas types 2 and 3 (neuronopathic) are associated with not only visceral symptoms but also neurological impairment, either severe in type 2 or variable in type 3. A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in leukocytes. Mutations in the GBA1 should be identified as they may be of prognostic value in some cases. Biomarkers including Chitotriosidase, CCL18, and glucosylsphingosine (lyso-GL1) are useful in diagnosis and treatment monitoring. Currently available disease-specific treatment in Korea consists of intravenous enzyme replacement therapy and substrate reduction therapy. For enhancing long-term prognosis, the onset of Parkinson's disease and Lewy body dementia, or the occurrence of a blood disease or cancer (hepatocellular carcinoma) should be monitored in older patients. The development of new strategies that can modify the neurological phenotype are expected, especially in Asia including Korea, where the prevalence of neuronopathic GD is relatively higher than that in western countries.

• Journal of Korean Neurosurgical Society
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• 제52권6호
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• pp.523-527
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• 2012

Objective : The incidence of spontaneous spinal epidural hematoma (SSEH) is rare. Patients with SSEH, however, present disabling neurologic deficits. Clinical outcomes are variable among patients. To evaluate the adequate treatment method according to initial patients' neurological status and clinical outcome with comparison of variables affecting the clinical outcome. Methods : We included 15 patients suffered from SSEH. Patients were divided into two groups by treatment method. Initial neurological status and clinical outcomes were assessed by the American Spinal Injury Association (ASIA) impairment scale. Also sagittal hematoma location and length of involved segment was analyzed with magnetic resonance images. Other factors such as age, sex, premorbid medication and duration of hospital stay were reviewed with medical records. Nonparametric statistical analysis and subgroup analysis were performed to overcome small sample size. Results : Among fifteen patients, ten patients underwent decompressive surgery, and remaining five were treated with conservative therapy. Patients showed no different initial neurologic status between treatment groups. Initial neurologic status was strongly associated with neurological recovery (p=0.030). Factors that did not seem to affect clinical outcomes included : age, sex, length of the involved spinal segment, sagittal location of hematoma, premorbid medication of antiplatelets or anticoagulants, and treatment methods. Conclusion : For the management of SSEH, early decompressive surgery is usually recommended. However, conservative management can also be feasible in selective patients who present neurologic status as ASIA scale E or in whom early recovery of function has initiated with ASIA scale C or D.

• Animal cells and systems
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• 제15권4호
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• pp.279-286
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• 2011

Hypoxic ischemia injury is a common cause of functional brain damage, resulting from a decrease in cerebral blood flow and oxygen supply to the brain. The main problems associated with hypoxic ischemia to the brain are memory impairment and dopamine dysfunction. Hypothermia has been suggested to ameliorate the neurological impairment induced by various brain insults. In this study, we investigated the effects of hypothermia on memory function and dopamine synthesis following hypoxic ischemia to the brain in rats. For this purpose, a step-down avoidance task, a radial eight-arm maze task, and immunohistochemistry for tyrosine hydroxylase (TH) and 5-bromo-2'-deoxyuridine (BrdU) were performed. The present results indicated that the hypoxic ischemia-induced disturbance of the animal's performances and spatial working memory was associated with a decrement in TH expression in the substantia nigra and striatum, and an increase in cell proliferation in the hippocampal dentate gyrus. Hypothermia treatment improved the animals' performance and spatial working memory by suppressing the decrement in TH expression in the substantia nigra and striatum and the increase in cell proliferation in the dentate gyrus. We suggest that hypothermia can be an efficient therapeutic modality to facilitate recovery following hypoxic ischemia injury to the brain, presumably by modulating the dopaminergic cell loss.

• 재활치료과학
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• 제6권2호
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• pp.37-45
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• 2017

Background: The presence of visuospatial impairment can make patients slow functional recovery and impede the rehabilitation process in TBI patients. Objective: The aim of this study is to investigate effects of prism adaptation treatment for functional outcomes in patients following traumatic brain injury. Methods: The subject received prism adaptation treatment for 2 weeks additionally during traditional rehabilitation for 4 weeks. The Patient has prism adaptation treatment while wearing wedge prisms that shift the external environment about $12^{\circ}$ leftward. The patient received 10 sessions, 15-20min each session. Outcome measures were visuospatial deficit(line bisection, latter cancellation), Visual and spatial perception(LOTCA-visual perception and spatial perception), motor function of upper extremity(FMA U/E; Fugl-Meyer motor assessment upper extremity, ARAT; Action research arm test), balance(BBS; Berg Balance Scale), mobility(FAC; Functional ambulation classification) and functional level(FIM; Functional independent measure). All Assessments took place on study entry and post-treatment assessments were performed at discharge from the hospital. Results: After prism adaptation, the visuospatial impairment scores improved as indicated in the line bisection(-15.2 to -6.02), latter cancellation(2 to 0) and LOTCA- spatial perception scores(7 to 9). The upper motor function improved as indicated in the scores of affected FMA U/E(21 to 40) and ARAT(4 to 22). Ambulation and balance improved as indicated in the BBS scores(25 to 38) and FAC scores(0 to 4). ADL function improved as indicated in the FIM total scores 54 to 70(motor 34 to 61, cognition 20 to 29). Conclusion: Prism adaptation did improve functional level such as motor functions and ADL abilities in TBI patient. Further research is recommended.

• 대한약침학회지
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• 제27권2호
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• pp.70-81
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• 2024

Objectives: Cognitive impairments, ranging from mild to severe, adversely affect daily functioning, quality of life, and work capacity. Despite significant efforts in the past decade, more than 200 promising drug candidates have failed in clinical trials. Herbal remedies are gaining interest as potential treatments for dementia due to their long history and safety, making them valuable for drug development. This review aimed to examine the mechanisms behind the effect of Polygonum multiflorum on cognitive function. Methods: This study focused primarily on the effects of Polygonum multiflorum and its chemical constituents on cognitive behavioral outcomes including the Morris water maze, the passive avoidance test, and the Y maze, as well as pathogenic targets of cognitive impairment and Alzheimer's disease (AD) like amyloid deposition, amyloid precursor protein, tau hyperphosphorylation, and cognitive decline. Additionally, a thorough evaluation of the mechanisms behind Polygonum multiflorum's impact on cognitive function was conducted. We reviewed the most recent data from preclinical research done on experimental models, particularly looking at Polygonum multiflorum's effects on cognitive decline and AD. Results: According to recent research, Poligonum multiflorum and its bioactive components, stilbene, and emodin, influence cognitive behavioral results and regulate the pathological target of cognitive impairment and AD. Their mechanisms of action include reducing oxidative and mitochondrial damage, regulating neuroinflammation, halting apoptosis, and promoting increased neurogenesis and synaptogenesis. Conclusion: This review serves as a comprehensive compilation of current experiments on AD and other cognitive impairment models related to the therapeutic effects of Polygonum multiflorum. We believe that these findings can serve as a basis for future clinical trials and have potential applications in the treatment of human neurological disorders.

• Physical Therapy Rehabilitation Science
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• 제13권1호
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• pp.86-94
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• 2024

Objective: To evaluate the changes in bladder capacity and storage through non-invasive neuromodulation by application of repetitive Trans magnetic stimulation (rTMS) and genital nerve stimulation (GNS) in traumatic spinal cord survivors. Design: A Single Case Study. Method: The Patient was registered in trail with the clinical trial registry of India (CTRI/2022/05/042431). The Patient was interposed with rTMS on lumbar area, from T11-L4 vertebrae with 1 Hz and the intensity was 20% below that elicited local paraspinal muscular contraction for 13 minutes. GNS was placed over dorsum of the penis with the cathode at the base and anode 2 cm distally at 20 Hz, 200 microseconds, Continuous and biphasic current was delivered and amplitude of stimulation necessary to elicit the genito-anal reflex. For assessment, Neurological examination was done for peri-anal sensation (PAS), voluntary anal contraction (VAC) and bulbocavernous reflex (BCR), deep anal pressure (DAP), and American Spinal Injury Association Impairment Scale (ASIA scale). Outcome assessment was done using Urodynamics, Spinal Cord Independence Measure Scale Version-III (SCIM-III), American Spinal Injury Association Impairment Score (ASIA Score), Beck's Depression Inventory Scale (BDI). The baseline evaluation was taken on Day 0 and on Day 30. Results: The pre-and post-data were collected through ASIA score, SCIM-III, BDI and Urodynamics test which showed significant improvement in bladder capacity and storage outcomes in the urodynamics study across the span of 4 weeks. Conclusion: rTMS along with GNS showed improvement in bladder capacity & storage, on sensory-motor score, in functional independence of individual after SCI.

• Journal of Korean Neurosurgical Society
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• 제59권2호
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• pp.161-164
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• 2016

Few preoperative extrapontine myelinolysis (EPM) cases with pituitary adenoma have been reported. No such case had long follow-up to see the outcome of EPM. We reported a 38-year-old man complaining of nausea, malaise and transient loss of consciousness who was found to have severe hyponatremia. Neurologic deficits including altered mental status, behavioral disturbances, dysarthria and dysphagia developed despite slow correction of hyponatremia. Endocrine and imaging studies revealed hypopituitarism, nonfunctional pituitary macroadenoma and extrapontine myelinolysis. Transsphenoidal surgery was performed after three weeks of supportive therapy, when neurological symptoms improved significantly. The patient recovered function completely 3 months after surgery. Our case indicates that outcome of EPM can be good even with prolonged periods of severe neurologic impairment.

• 동의생리병리학회지
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• 제20권2호
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• pp.498-502
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• 2006

Neurological impairment produces cognitive, communicational, physical, and social deficits. Music has the power to help stroke patients to regain speech and overcome other deficits. Rhythm and melody help to rehabilitate memory, muscles, breathing, etc. This article introduces how music therapy approaches stroke patients and helps them. It focuses particularly on speech; however, music affects not only one part of the body but the whole body. In cases in which music therapy is used, we can see how music helps with stroke patients and how to achieve these goals.

• 대한한의학회지
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• 제22권3호
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• pp.169-178
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• 2001

After initial recovery from acute carbon monoxide (CO) intoxication, some patients occasionally undergo severe neuropsychiatric deterioration, which is called postanoxic delayed encephalopathy (sequelae). This is the clinical report about one patient, a 73-year-old man, diagnosed with delayed encephalopathy after acute CO intoxication. The symptoms of the patient were mental dysfunction including memory impairment and disorientation, abnormal behavior, incontinence and mutism. He had completely recovered after an aonxic episode, but the neurological symptoms that developed were preceded by an interval of apparent normality (the 'lucid interval'). We characterized him as suffering deficiency syndrome of the heart and prescribed for him Bokreongbosim-tang and Guipi-tang, and thereafter his symptoms were remarkably improved. For the evaluation of clinical improvement, we use the Modified Barthel Index (MBI), Canadian Neurologic Scale (CNS), and the Korean version of the Mini-Mental State Examination (K-MMSE)