• Molecules and Cells
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• v.46 no.11
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• pp.655-663
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• 2023

Autophagy dysfunction is associated with human diseases and conditions including neurodegenerative diseases, metabolic issues, and chronic infections. Additionally, the decline in autophagic activity contributes to tissue and organ dysfunction and aging-related diseases. Several factors, such as down-regulation of autophagy components and activators, oxidative damage, microinflammation, and impaired autophagy flux, are linked to autophagy decline. An autophagy flux impairment (AFI) has been implicated in neurological disorders and in certain other pathological conditions. Here, to enhance our understanding of AFI, we conducted a comprehensive literature review of findings derived from two well-studied cellular stress models: glucose deprivation and replicative senescence. Glucose deprivation is a condition in which cells heavily rely on oxidative phosphorylation for ATP generation. Autophagy is activated, but its flux is hindered at the autolysis step, primarily due to an impairment of lysosomal acidity. Cells undergoing replicative senescence also experience AFI, which is also known to be caused by lysosomal acidity failure. Both glucose deprivation and replicative senescence elevate levels of reactive oxygen species (ROS), affecting lysosomal acidification. Mitochondrial alterations play a crucial role in elevating ROS generation and reducing lysosomal acidity, highlighting their association with autophagy dysfunction and disease conditions. This paper delves into the underlying molecular and cellular pathways of AFI in glucose-deprived cells, providing insights into potential strategies for managing AFI that is driven by lysosomal acidity failure. Furthermore, the investigation on the roles of mitochondrial dysfunction sheds light on the potential effectiveness of modulating mitochondrial function to overcome AFI, offering new possibilities for therapeutic interventions.

• Sleep Medicine and Psychophysiology
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• v.3 no.2
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• pp.1-17
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• 1996

To demonstrate the clinical usefulness of electroencephalography (EEG) and factors increasing the usefulness of EEG, the authors evaluated each relationship between EEG related factors and clinical variables, and neuroimaging studies (CT and MRI)-related factors, and factors which are related with routine neurological examination for 207 patients who had been evaluated with both of EEG and neuroimaging study(CT or/and MRI). The results were as follows: 1) Abnormality of EEG findings had significant relationships with chief complaints, diagnosis, medication use, seizure attack, pathological reflex, and level of consciousness. However there were no significant correlations between abnormality of EEG findings and neuroimaging studies (CT and MRI)- related factors. 2) Laterality of EEG findings had significant relationships with abnormality, laterality, and focality of CT findings, and also with abnormality of MRI findings. But there were no significant correlations between laterality of EEG findings and clinical variables, and neurological examination-related factors. 3) Anterior-posterior distribution of EEG findings was significantly related with medication use. 4) Focality of EEG findings had significant relationships with sex, sensory dysfunction sign, and cerebellar dysfunction sign. But there were no significant correlations between focality of EEG findings and neuroimaging studies(CT and MRI) related factors. 5) Abnormal EEG pattern had significant correlations with various factors, such as age, chief complaints, duration from onset of symptom to taking MRI, seizure attack, abnormality and nature of lesion in CT findings, cortical atrophy in MRI findings, motor dysfunction sign, sensory dysfunction sign, and pathological reflex. 6) With abnormality on sleep activation, age, age of onset, seizure attack, ventricular enlargement in CT findings, and abnormality of MRI findings were significantly correlated. 7) With abnormality on hyperventilation activation, duration of illness and laterality of MRI findings were significantly correlated. Above results may suggest that abnormality of EEG findings is more closely related with functional change of the brain than structural changes of the brain and laterality of EEG findings is vice versa. And also that medication use has an influence on anterior versus posterior distribution of EEG findings and focality of EEG findings is not related with structural changes of the brain. Activation with sleep may be effective to show age differences and provocation of seizure activity and hyperventilation may be effective to detect the abnormal EEG findings by cerebrovascular insufficiency.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.11 no.1
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• pp.52-73
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• 2011

Since we have started organic acid analysis on Jul. 1997, we have been collecting data about organic acidemias in Korea. The data presented here is our 3 years experience in organic acid analysis. We have collected 712 samples from major university hospitals all over the Korea, large enough for relatively accurate incidence of organic acid disorders. We are using solvent extraction method with ethylacetate, MSTFA for derivatization and quantitation of 83 organic acids simultaneously. Out of 712 patients sample, 498 patients sample (70%) showed no evidence of organic acid abnormalities. Out of 214 remaining samples we have found very diverse disorders such as methylmalonic aciduria(6), propionic aciduria (10), biotinidase deficiency (6), maple syrup urine disease (3), isovaleric aciduria (4), tyrosinemia type II (4), tyrosinemia type IV (1), glutaric aciduria type I (1), glutaric aciduria type II (22), 3-methylglutaconic aciduria type I (3), 3-methylglutaconic aciduria type III (7), HMG-CoA lyase deficiency (1), hyperglyceroluria (2), cytosolic 3-ketothiolase deficiency (55), mitochondrial 3-ketothiolase deficiency (3), 3-hydroxyisobutyric aciduria (2), L-2-hydroxyglutaric aciduria (2), fumaric aciduria (2), lactic aciduria with combined elevation of pyruvate (most likely PDHC deficiency) (28), lactic aciduria without combined elevation of pyruvate (most likely mitochondrial respiratory chain disorders) (35), SCAD deficiency (3), MCAD deficiency (1), 3-methylcrotonylglycineuria (1), orotic aciduria (most likely urea cycle disorders) (7) and 2-methylbranched chain acyl-CoA dehydrogenase deficiency (1). In conclusion, though the incidence of indivisual organic acidemia is low, the incidence of overall organic acidemia is relatively high in Korea. Most of the patients showed some signs of neurological dysfunction. In other words, organic acid analysis should be included in the diagnostic work up of all neurological dysfunctions.

• The Journal of Korean Physical Therapy
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• v.29 no.6
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• pp.316-323
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• 2017

Effort to improve balance ability in the field of rehabilitation has been constantly issued and developed up to now. A variety of subcomponent of postural control including function and cognition should be needed in many body systems and be complicatedly linked to each system. In South Korea, although decreased postural dysfunction due to neurological or musculoskeletal disorders has been well documented, we do not have many experience and knowledge of vestibular rehabilitation for maintain and improve balance function. In the United States, vestibular physical therapy is already acknowledged as clinical subspecialty by American Physical Therapy Association. However, there is no curriculum subject related to vestibular rehabilitation in standard education of physical therapy and no specialist who has clinical experience and knowledge of this realm. Therefore, we reviewed general information and basic knowledge of vestibular rehabilitation such as current state of vestibular disorder in South Korea, pathology, major causes of vestibular dysfunction including peripheral vestibular disorders, vestibular neuritis, benign paroxysmal positional vertigo, and central disorder, evaluation of vestibular dysfunction, and treatment for vestibular dysfunction new approaches. We expect that physical therapist in South Korea recognize clinical significance of vestibular exercise and that clinical concern and research will be begun in near future.

• BMB Reports
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• v.52 no.5
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• pp.304-311
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• 2019

The cytoplasmic FMR1-interacting protein family (CYFIP1 and CYFIP2) are evolutionarily conserved proteins originally identified as binding partners of the fragile X mental retardation protein (FMRP), a messenger RNA (mRNA)-binding protein whose loss causes the fragile X syndrome. Moreover, CYFIP is a key component of the heteropentameric WAVE regulatory complex (WRC), a critical regulator of neuronal actin dynamics. Therefore, CYFIP may play key roles in regulating both mRNA translation and actin polymerization, which are critically involved in proper neuronal development and function. Nevertheless, compared to CYFIP1, neuronal function and dysfunction of CYFIP2 remain largely unknown, possibly due to the relatively less well established association between CYFIP2 and brain disorders. Despite high amino acid sequence homology between CYFIP1 and CYFIP2, several in vitro and animal model studies have suggested that CYFIP2 has some unique neuronal functions distinct from those of CYFIP1. Furthermore, recent whole-exome sequencing studies identified de novo hot spot variants of CYFIP2 in patients with early infantile epileptic encephalopathy (EIEE), clearly implicating CYFIP2 dysfunction in neurological disorders. In this review, we highlight these recent investigations into the neuronal function and dysfunction of CYFIP2, and also discuss several key questions remaining about this intriguing neuronal protein.

• Journal of Korean Neurosurgical Society
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• v.61 no.6
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• pp.767-773
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• 2018

Three male patients diagnosed with surfer's myelopathy (19-30 years) were admitted to our hospital. All three patients were novice surfers showing a typical clinical course of rapid progression of paraplegia following the onset of back pain. Typical history and magnetic resonance imaging features indicated the diagnosis of surfer's myelopathy. Two patients received high-dose steroid therapy and the other was treated with induced hypertension. One patient treated with induced hypertension showed almost full recovery; however, two patients who received high-dose steroid therapy remained completely paraplegic and required catheterization for bladder and bowel dysfunction despite months of rehabilitation. Our case series demonstrates the potentially devastating neurological outcome of surfer's myelopathy; however, early recovery in the initial 24-72 hours of presentation can occur in some patients, which is in accordance with previous reports. Ischemic insult to the spinal cord is thought to play a crucial role in the pathophysiology of surfer's myelopathy. Treatment recommendations include hydration, induced hypertension, early spinal angiography with intra-arterial intervention, intravenous tissue plasminogen activator, and high-dose steroid therapy; however, there is no standardized treatment option available. Early recovery appears to be important for long-term neurological outcome. Induced hypertension for initial treatment can be helpful for improving spinal cord perfusion; therefore, it is important for early and long-term neurological recovery. Education and awareness are essential for preventing surfer's myelopathy and avoiding further deterioration of neurological function.

• Journal of Korean Neurosurgical Society
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• v.49 no.5
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• pp.262-266
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• 2011

Objective : The endocrine dysfunction after the operation for suprasellar arachnoid cysts is not rare. The careful operation to prevent structures can prevent this complication, but it is not enough and effective to prevent it. Authors present technical surgical considerations to prevent this complication with a review of our suprasellar arachnoid cyst patients who had postoperative endocrine dysfunction. Methods : From January 2002 to December 2009, eight patients who had suprasellar arachnoid cysts with visual impairment underwent surgery. The mean age was 57.1 years (range, 33-77). Preoperatively, their endocrine function was clinically normal, and laboratory hormonal levels were within normal ranges. Cyst fenestration was performed by craniotomy (n=6) or by a neuro-endoscopic procedure (n=2), and, simultaneously, along with a cyst wall biopsy. Results : The surgery was uneventful in all eight patients, and there were no neurological morbidities. However, in four patients, endocrine dysfunction occurred postoperatively. We compared these four patients (group A) to the other 4 patients without endocrine dysfunction (group B) with intraoperative findings and with the histopathological findings of the cyst wall biopsy. The group A patients had more abundant vasculature on the cystic wall than the group B patients according to both the intraoperative findings and the histopathological findings. Conclusion : When performing a surgical cyst wall fenestration, surgeons should try to minimize the destruction of the cystic wall vasculature and not to make the fenestration at a site that contains many vascular striae.

• Journal of the Korean neurological association
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• v.36 no.4
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• pp.318-321
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• 2018

We describe a 44-year-old woman with paresthesia, fatigue, and palpitation, 10 days after human papillomavirus (HPV) vaccination. The quantitative sensory test showed abnormal detection threshold in her foot. Tilt test result indicated postural orthostatic tachycardia syndrome. Symptoms were improved after immunomodulating therapy, pain control drug, and oral beta blocker medication. This is first case report for small fiber neuropathy and autonomic dysfunction after HPV vaccination in Korea.

• Journal of the Korean neurological association
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• v.36 no.4
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• pp.322-324
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• 2018

Oculogyric crisis is an acute dystonia involving ocular muscles characterized by sustained conjugate upward or lateral deviation of the eyes. Metronidazole is a commonly used antimicrobial agent in treatment of anaerobic infections. However, its long-term use can cause toxic encephalopathy particularly in patients with hepatic dysfunction. Here, we describe a case of oculogyric crisis as a presenting manifestation of metronidazole-induced encephalopathy.

• Journal of the Korean neurological association
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• v.36 no.4
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• pp.396-398
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• 2018