• Title/Summary/Keyword: Nervous system disorders

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Molecular genetics of congenital central hypoventilation syndrome and Haddad syndrome

  • Lee, Jae-Ho;Kim, Dae-Kwang
    • Journal of Genetic Medicine
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    • v.11 no.1
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    • pp.11-15
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    • 2014
  • Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system characterized by a decreased response to hypercarbia. CCHS is frequently associated with congenital megacolon; the combination is called Haddad syndrome. CCHS is associated with dysfunction in respiratory features of the autonomic nervous system and with other disorders, including facial deformities, cardiovascular symptoms, and tumors. Patients with CCHS frequently have a mutation in the homeobox protein 2b (PHOX2B) gene. Most mutations involve heterozygous expansion of alanine repeats (GCN). Interestingly, a higher polyalanine repeat number is associated with a more severe clinical phenotype. To clarify the role of PHOX2B in disease pathogenesis, we introduce and review the clinical and molecular features of CCHS and Haddad syndrome.

Lymphomatosis Cerebri

  • Choi, Chan-Young;Lee, Chae-Heuck;Joo, Mee
    • Journal of Korean Neurosurgical Society
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    • v.54 no.5
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    • pp.420-422
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    • 2013
  • Lymphomatosis cerebri is considered a diffuse form of primary central nervous system lymphoma and very rare. It is not well recognized and may be misdiagnosed with infiltrating tumors, degenerative disorders, ischemic diseases, and infectious diseases developed in the brain. Awareness of the possibility of this rare disease and early biopsy are required for differential diagnosis and preventing poor clinical outcomes. We report a case with lymphomatosis cerebri who presented with rapid neurological deteriorations and review the relevant literatures.

Paradoxical Rebellion Bound to Conformity: Isaac Watts's "Hurry of the Spirits, in a Fever and Nervous Disorders"

  • Chung, Ewha
    • Journal of English Language & Literature
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    • v.58 no.6
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    • pp.1103-1117
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    • 2012
  • This paper focuses on eighteenth-century English pastor, poet, and hymnist, Isaac Watts (1674-1748), a significant yet neglected nonconformist dissenter, who defines a public religion and transforms poetry as a new literary political genre. During England's post-Revolutionary religio-political turmoil, Watts's poem, "The Hurry of the Spirits, in a Fever and Nervous Disorders" (1734), deliberately engages in a methodical refusal to settle upon a single system of images or terms for describing or referring to the speaker's identity or situation. Watts's, literal and metaphoric, refusal to identify with one religio-political approach to nonconformist dissent has been the very point of criticism that not only undermines the poet's monumental work on hymns but also the lasting impact that the poet had upon England's national consciousness. This study, therefore, questions why the poet refuses to choose one ideal path in his pursuit for religious freedom and, further, analyzes how the hymn writer defends his demotic aesthetics. This paper investigates Watts's comprehensive and detailed formulation of what a secularized "social religion" should entail and, further, explores its beneficial role in the pursuit for society's peace. In contrast to Milton's apocalyptic vengeance, Watts's nonconformist goal seeks to balance and locate authority in the individual with the ancient ideal of a "sacred order" that is represented in "The Hurry of the Spirits" through the means of poetic imagination.

Diagnosis of inherited metabolic disorders based on their diverse clinical features and laboratory tests (유전성 대사질환의 임상증상과 진단)

  • Yoo, Han-Wook
    • Clinical and Experimental Pediatrics
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    • v.49 no.11
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    • pp.1140-1151
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    • 2006
  • Inherited metabolic disorders are individually rare but as a whole, they are nor rare. Since Archibald Garrod introduced a concept of "inborn error of metabolism" or "chemical individuality", more than 500 diseases are currently known, affecting approximately one in 500 newborns cumulatively. They frequently manifest with acute, life-threatening crisis that require immediate specific intervention or they present with insidious diverse symptoms and signs involving multiple visceral organs or tissues as well as central nervous system, hampering a correct diagnosis. In addition, many pediatricians are not familiar with all diagnostic and therapeutic strategies for diverse inherited metabolic disorders. However, the prognosis of affected children are heavily dependent on rapid and effective treatment. In this lecture, practical guidelines for the specific diagnosis based on diverse clinical features of inherited metabolic disorders will be described. Many sophisticated laboratory tests are available for confirmatory diagnosis of each disease, which challenge to general pediatricians with respect to knowledge about biochemical metabolite assay test, enzymatic test and DNA diagnostic tests. Sample collections, indications, methods and interpretation of results in varying laboratory tests will be listed as well.

Diagnosis of Inherited Metabolic Disorders Based on Their Diverse Clinical Features and laboratory Tests (유전성 대사질환의 임상증상과 진단)

  • Yoo, Han-Wook
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.13 no.1
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    • pp.1-19
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    • 2013
  • Inherited metabolic disorders are individually rare but as a whole, they are nor rare. Since Archibald Garrod introduced a concept of "inborn error of metabolism" or "chemical individuality", more than 600 diseases are currently known, affecting approximately one in 500 newborns cumulatively. They frequently manifest with acute, life-threatening crisis that requires immediate specific intervention or they present with insidious diverse symptoms and signs involving multiple visceral organs or tissues as well as central nervous system, hampering a correct diagnosis. In addition, many pediatricians are not familiar with all diagnostic and therapeutic strategies for diverse inherited metabolic disorders. However, the prognosis of affected children are heavily dependent on rapid and effective treatment. In this lecture, practical guidelines for the specific diagnosis based on diverse clinical features of inherited metabolic disorders will be described. Many sophisticated laboratory tests are available for the confirmatory diagnosis of each disease, which is challenging to general pediatricians with respect to knowledge about biochemical metabolite assay test, enzymatic test and DNA diagnostic tests. Sample collections, indications, methods and interpretation of results in varying laboratory tests will be listed as well.

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Therapeutic Effects of Ginseng on Psychotic Disorders

  • Ma, Yu-An;Eun, Jae-Soon;Oh, Ki-Wan
    • Journal of Ginseng Research
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    • v.31 no.3
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    • pp.117-126
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    • 2007
  • Ginseng, the root of Panax species, a well-known herbal medicine has been used as a traditional medicine for thousands of years and is now a popular and worldwide used natural medicine. Ginseng has been used primarily as a tonic to invigorate weak bodies to help the restoration of homeostasis in a wide range of pathological conditions such as cardiovascular diseases, cancer, immune deficiency and hepatotoxicity. Although conclusive clinical data in humans is still missing, recent research results have suggested that some of the active ingredients ginseng exert beneficial effects on central nervous system (CNS) disorders and neurodegenerative diseases, suggesting it could be used in treatment of psychotic disorders. Data from neural cell cultures and animal studies contribute to the understanding of these mechanisms that involve inhibitory effects on stress-induced corticosterone level increasing and modulating of neurontransmitters, reducing $Ca^{2+}$ over-influx, scavenging of free radicals and counteracting excitotoxicity. In this review, we focused on recently reported medicinal effects of ginseng and summarized the possibility of its applications on psychotic disorders.

Effects of Endocrine Disrupting Chemicals on the Nervous System (내분비계 교란물질이 신경계에 미치는 영향)

  • Shin, Hyun Seung;Wi, Jae Ho;Lee, Seung Hyun;Choi, Soo Min;Jung, Eui-Man
    • Journal of Life Science
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    • v.32 no.1
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    • pp.70-77
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    • 2022
  • Endocrine disrupting chemicals (EDCs) have been attracting significant attention in modern society, owing to the increased incidence rate of various diseases along with population growth. EDCs are found in many commercial products, including some plastic bottles and containers, detergents, liners of metal food cans, flame retardants, food, toys, cosmetics, and pesticides. EDCs have a hormonal effect on the human body, which disrupts the endocrine system, notably affecting sexual differentiation and normal reproduction, and can trigger cancer as well. Recently, the association between neurological diseases and EDCs has become a hot topic of research in the field of neuroscience. Considering that EDCs negatively affect not only neuronal proliferation and neurotransmission but also the formation of the neuronal networks, EDCs may induce neurodevelopmental disorders, such as autism spectrum disorders and attention-deficit/hyperactivity disorder as well as neurodegenerative diseases, including Parkinson's disease and Alzheimer's disease. In light of these potentially deleterious outcomes, important efforts have been underway to minimize the exposure to EDCs through appropriate regulations and policies around the world, but chemicals that have not yet been associated with endocrine disrupting properties are still in wide use. Therefore, more epidemiological investigations and research are needed to fully understand the effects of EDCs on the nervous system.

Characteristics in Heart Rate Variability associated with Early Life Stress in Patients with Major Depressive Disorder (주요우울장애 환자에서 생애초기스트레스와 연관된 심박변이도의 특성)

  • Lee, Chiheon;Kim, Min-Kyeong;Choi, Sun-Woo;Park, Hae-in;Seok, Jeong-Ho
    • Mood & Emotion
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    • v.15 no.3
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    • pp.117-122
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    • 2017
  • Objectives : Early life stress (ELS) may have impact on functions of the autonomic nervous system. Heart rate variability (HRV) is a reliable psychophysiological marker for functions of the autonomic nervous system. The purpose of this study was to investigate characteristics of HRV associated with ELS in patients with major depressive disorder (MDD). Methods : We compared HRV measures of MDD patients with ELS and without ELS in a 5-minute resting-state electrocardiogram recoding. Forty subjects participated in the study (25 with ELS, 15 without ELS). The Mann-Whitney test was conducted to identify group differences. Results : We found significant group differences in standard deviation of the NN interval (SDNN) and total power (TP). SDNN was lower in the ELS group (M=38.80 ms, SD=13.05 ms) than in the Non-ELS group (M=53.53 ms, SD=19.47 ms). TP was lower in the ELS group ($M=7.07ms^2$, $SD=0.69ms^2$) than in the Non-ELS group ($M=7.72ms^2$, $SD=0.77ms^2$). Conclusion : ELS may have a negative impact on the autonomic nervous system function in patients with MDD. ELS and dysfunction of autonomic nervous system should be considered in treatment for patients with MDD.

A Case Report of Central Nervous System Disorder Induced Intractable Hiccups Treated with Korean Medicine (중추신경계 질환자에게 이환된 난치성 딸꾹질의 한방치험1례)

  • Moon, Jiseong;Min, Seonwoo;Kim, Yeseul;Park, Jiyoon;Hong, Junghwa;Choi, Dong-jun
    • The Journal of Internal Korean Medicine
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    • v.43 no.2
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    • pp.191-200
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    • 2022
  • Intractable hiccups are those which persist for more than one month and can often occur in patients with disorders of the central nervous system, such as stroke, epilepsy, or brain tumor. An 80-year-old male patient undergoing conservative hemodialysis for diabetic nephropathy, recently developed paralysis and dysphagia due to central nervous system complications including stroke and epilepsy. He was admitted to the ◯◯ Oriental Medicine Hospital, and treated with herbal medicine (Gyulpijugyeo-tang, Jeonssiigong-san, and Ijin-tang) and electrical acupuncture for 30 days. No side effects were observed during hospitalization. The frequency and duration of hiccups were measured daily and found to reduce, and the effect persisted during his admission. The patient took no other nervous system drugs. In conclusion, Korean medicine like gyulpijugyeo-tang and acupuncture can be effective for patients with intractable hiccups who cannot use alternative drugs or treatment, because of other complications.

Nerveous System Diseases Associated with Psychiatric Disorders (정신과적 장애와 연관되는 신경계 질환들)

  • Lee, Dae-Hee
    • Korean Journal of Psychosomatic Medicine
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    • v.4 no.2
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    • pp.286-293
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    • 1996
  • The studying and teaching of behavioral neurology remain in their infancy. As the arena for studying how the brain subserves cognition, emotion and consciousness, behavioral neurology straddles the boundaries of numerous, more established disciplines-extending from the most fundamental explorations of molecular biology to the broadest questions of philosophy. In behavioral neurology, the area of neural dysfunction as well as the pathogenesis must be determined. There are cases in which a more thorough mental status examination must be performed. These are practically the cases with known or suspected brain lesions and acute psychiatric disorders.

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