• Biomolecules & Therapeutics
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• 제29권6호
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• pp.605-614
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• 2021

Autophagy is an important degradative pathway that eliminates misfolded proteins and damaged organelles from cells. Autophagy is crucial for neuronal homeostasis and function. A lack of or deficiency in autophagy leads to the accumulation of protein aggregates, which are associated with several neurodegenerative diseases. Compared with non-neuronal cells, neurons exhibit rapid autophagic flux because damaged organelles or protein aggregates cannot be diluted in post-mitotic cells; because of this, these cells exhibit characteristic features of autophagy, such as compartment-specific autophagy, which depends on polarized structures and rapid autophagy flux. In addition, neurons exhibit compartment-specific autophagy, which depends on polarized structures. Neuronal autophagy may have additional physiological roles other than amino acid recycling. In this review, we focus on the characteristics and regulatory factors of neuronal autophagy. We also describe intracellular selective autophagy in neurons and its association with neurodegenerative diseases.

• Journal of Korean Neurosurgical Society
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• 제62권3호
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• pp.328-335
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• 2019

Epilepsy is one of the most common chronic neurological disorder affecting 6-7 per 1000 worldwide. Nearly one-third of patients with newly diagnosed epilepsy continue to have recurrent seizures despite adequate trial of more than two anti-seizure drugs : drug-resistant epilepsy (DRE). Children with DRE often experience cognitive and psychosocial co-morbidities requiring more urgent and aggressive treatment than adults. Epilepsy surgery can result in seizure-freedom in approximately two-third of children with improvement in cognitive development and quality of life. Understanding fundamental differences in etiology, co-morbidity, and neural plasticity between children and adults is critical for appropriate selection of surgical candidates, appropriate presurgical evaluation and surgical approach, and improved overall outcome.

• 말소리와 음성과학
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• 제10권4호
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• pp.173-177
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• 2018

Purpose: The primary goal of this study was to discover whether the articulatory diadochokinesis (sequential motionrate, SMR) collected using the Motor Speech Disorder Assessment (MSDA) software module can diagnose dysarthria and determine its severity. Methods: Two subject groups, one with spastic dysarthria (n=26) and a control group of speakers (n=30) without neurological disease, were set up. From both groups, the SMR was collected by MSDA at a time, and then analyzed using descriptive statistics. Results: For the parameters of syllable rate, jitter, and the mean syllable length (MSL) at the front and back, the control group displayed better results than the dysarthria patients. Conclusions: At the level of articulatory diadochokinesis, the results showed that the use of MSDA software in clinical practice was generally suitable for quickly recording the parameters of syllable rate, jitter, and mean syllable length.

• Journal of mucopolysaccharidosis and rare diseases
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• 제5권1호
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• pp.8-11
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• 2021

Glutaric aciduria type 1 (GA1; OMIM #231670) is a rare autosomal recessive-inherited neurometabolic disorder caused by the deficiency of glutaryl-CoA dehydrogenase (GCDH), which is encoded by the GCDH gene. It results in the accumulation of glutaric acid (GA), 3-hydroxyglutaric acid (3-OH-GA), glutaconic acid, and glutarylcarnitine (C5DC). These metabolites are considered to damage the striatum through an excitotoxic mechanism. The treatments of GA1 known to date are metabolic maintenance treatment based on a low-lysine diet and emergency treatment during acute illness. However, treatment after the onset of neurological symptoms has limited effectiveness and is associated with poor outcomes, and the effect of treatment and disease course after treatment are not good. After the implementation of newborn screening, the incidence of acute encephalopathic crisis fell to 10%-20% with early diagnosis, preventative dietary management, and aggressive medical intervention during acute episodes. Recently, several cohort studies have been published on the natural course and treatment of GA1 patients. This mini review will cover the clinical symptoms, natural history, and treatment of GA1 through a literature review.

• Journal of mucopolysaccharidosis and rare diseases
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• 제5권1호
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• pp.12-16
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• 2021

Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase, leading to the accumulation of glycosaminoglycans (GAGs), which affects multiple organs and systems. Current treatments for MPS II include enzyme replacement therapy (ERT) and hematopoietic cell transplantation (HCT) to reduce the accumulation of GAGs. HCT has the potential advantage that donor-derived enzyme-competent cells can provide a continuous secreting source of the enzyme. However, HCT as a treatment for MPS II remains controversial because its effectiveness is unclear, particularly in terms of neurological symptoms. To date, several clinical experiences with HCT in MPS II have been reported. In this paper, we review post-HCT outcomes in the previously published literature and discuss the effects of HCT on each of the clinical signs and symptoms of MPS II.

• 국제물리치료학회지
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• 제12권2호
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• pp.2354-2358
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• 2021

Background: Stroke is a neurological disorder characterized by an impaired static balance. A change in poor posture after stroke may worsen static balance. The balance control through an upright posture may include kinesiology taping of the middle back. Objectives: To investigated the effect of kinesiology taping of middle back on static balance in patients with stroke. Design: A randomized controlled trial. Methods: A total of 10 patients with stroke were divided into two groups. The experimental and control groups received kinesiology taping and placebo taping of the middle back, respectively. After 24 h, static balance (i.e., sway area and path length) was measured in closed eyes condition. Results: The experimental group (kinesiology taping group) showed a significant decrease in sway area and path length after the intervention. In addition, kinesiology taping group showed a significant decrease in sway area and path length compared to the control group. Conclusion: Kinesiology taping of the middle back can improve static balance in stroke patients.

• Annals of Clinical Neurophysiology
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• 제24권2호
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• pp.79-83
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• 2022

Diffuse large B-cell lymphoma (DLBCL) is the most common type of non-Hodgkin's lymphoma. Although progressive lymphadenopathy is a typical feature, extranodal involvement may also occur, including the gastrointestinal tract, skin, bone, thyroid, and testes. Central nervous system invasion is rare, so differentiating it from diseases such as inflammatory demyelinating disorder or infection is essential. DLBCL is therefore a challenge to diagnose, especially when the first findings are neurological symptoms. We report an unusual case of DLBCL that presented as transverse myelitis.

• 대한수의학회지
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• 제63권3호
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• pp.26.1-26.5
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• 2023

Syringobulbia is a rare neurological disorder characterized by a fluid-filled cavity in the brainstem. In this study, clinical signs, features on magnetic resonance imaging (MRI), and the diseases present concurrently with syringobulbia were investigated in 33 small breed dogs. Most dogs (97%) had concurrent syringomyelia, and some dogs (24%) presented with vestibular or cranial nerve symptoms associated with the medulla oblongata. MRIs revealed slit-like, bulbous, and vertical linear shapes of the cavities on T2-weighted hyperintense and T1-weighted hypointense signals similar to the cerebrospinal fluid. Chiari-like malformations were identified in all dogs. This study highlights the association of syringobulbia with syringomyelia and Chiari-like malformations in small breed dogs with or without brainstem-associated clinical signs.

• Pediatric Infection and Vaccine
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• 제31권1호
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• pp.122-129
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• 2024

Chediak-Higashi syndrome (CHS) is a rare haematological and immunodeficiency disorder that occurs in childhood leading to recurrent infections, bleeding tendencies and progressive neurological dysfunction. Partial oculocutaneous albinism occurs in almost all cases. The exact prevalence is unknown, and the disease is caused by over 70 identified mutations in the lysosomal trafficking regulator gene. The presence of a bright polychromatic appearance from hair shaft and abnormally large intracytoplasmic granules, especially within neutrophils and platelets in the bone marrow is highly suggestive. Treatment is largely supportive, and the only curative treatment is through an allogeneic hematopoietic stem cell transplant. Without transplant, most patients will enter an accelerated phase of hemophagocytic lymphohistiocytosis (HLH) which carries a high mortality rate. We present a young male with CHS who we had followed through and eventually developed a fulminant accelerated phase. We believe this is only the second reported case of CHS in Malaysia.

• 재활치료과학
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• 제13권2호
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• pp.9-25
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• 2024

목적 : 자폐 스펙트럼 장애(Autistic Spectrum Disorders: ASD) 아동은 감각 처리, 제한된 흥미, 행동, 인지, 사회성, 구강 운동, 소화 등 복합적인 원인으로 인해 섭식장애가 흔하게 동반된다. 주요한 섭식장애 문제로는 식사 시간 행동 문제, 까다로운 먹기, 선택적 먹기, 새로운 음식 거부, 음식 다양성 저하 등이며 이로 인해 영양 섭취 및 건강 문제, 발달, 사회적 활동 참여 제한, 가족과 보호자 스트레스를 유발하기도 한다. 따라서 ASD 아동의 섭식장애를 조기에 확인하여 적절한 중재 제공과 적합한 평가도구 사용이 필요하다. 본 논문에서는 최신 문헌 고찰을 통해 ASD 아동의 섭식장애 평가도구에 대한 심도 있는 이해를 위한 고찰을 실시하였다. 연구방법 : 본 연구는 ASD, ASD의 섭식문제, ASD의 섭식평가 등의 키워드를 검색하여 최근 약 10년간의 선행연구를 바탕으로 ASD 섭식문제 평가도구를 분석하였다. 결과 : ASD 섭식장애 평가는 직접 평가와 간접 평가로 나뉘는데 그 중, 부모와 보호자가 아동의 전반적인 상황을 척도화 한 질문지나 평가도구로 측정하는 간접 평가가 주로 사용되고 있었다. 평가는 주로 식사 시간 중 아동이 보이는 섭식 행동, 구강 및 미각 관련 감각 처리, 음식 선택 및 선호도를 확인하였으며 보호자의 섭식 태도가 아동의 섭식 행동에 미치는 영향을 평가하기도 하였다. 결론 : ASD 아동의 섭식 장애 평가는 1) 식사 시간 섭식 행동, 2) 감각 처리, 3) 섭취 음식, 4) 기타로 구분되었다. ASD 아동의 주요한 섭식장애 특징은 매우 다양하기 때문에 종합적인 평가가 이루어져야 하지만 아직 제한적이다. 또한 구강 운동 기능, 소화 등 추가적인 영역의 평가도 고려되어야 할 것으로 보인다. 작업치료사 등 연하재활 전문가는 ASD 아동의 섭식 문제, 행동, 감각 등에 대한 기본적인 이해를 바탕으로 한 종합적인 평가도구를 적용해야 할 것이다.