NO TO HATTATSU
Online ISSN : 1884-7668
Print ISSN : 0029-0831
ISSN-L : 0029-0831
Volume 31 , Issue 2
Showing 1-16 articles out of 16 articles from the selected issue
  • [in Japanese]
    1999 Volume 31 Issue 2 Pages 104
    Published: March 01, 1999
    Released: August 10, 2011
    JOURNALS FREE ACCESS
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  • Norio Niikawa
    1999 Volume 31 Issue 2 Pages 105-113
    Published: March 01, 1999
    Released: August 10, 2011
    JOURNALS FREE ACCESS
    The causes of congenital malformation syndromes had long remained obscure, because their biochemical bases were unknown. However, with recently developed reverse- genetic and/ or Human Genome Projectderived technology, we have been able to approach such disorders. These new methods include positional cloning techniques, candidate gene approach and positional candidate strategies. Among them, positional cloning has become most reliable nowadays, and three ways are mainly available to obtain position information of disease genes, i. e., data from linkage analysis of disease families; comparative maps between different species; breakpoints of disease- related de novo chromosomal translocations. I present here some examples for each strategy: a large kindred with mesomelic dysplasia Kantaputra type for linkage data, and its seemingly allelic bone dysplasia associated with t (2; 8) for positional cloning that starts from a chromosomal translocation; Waardenburg syndrome for candidate gene approach; and the p57KIP2 gene for positional candidate approach to Wiedemann-Beckwith syndrome. I finally emphasize that a human link composed of general physicians, molecular geneticists and clinical researchers is essential to reach a goal of reverse genetics. Without such a goal, we can neither understand the genesis of diseases nor develop their therapy.
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  • Masao Ito
    1999 Volume 31 Issue 2 Pages 114-119
    Published: March 01, 1999
    Released: August 10, 2011
    JOURNALS FREE ACCESS
    Neuroscience has advanced markedly through the 20th century; material processes of brains have been analyzed in detail, and information processes approached as well. Clarification of the material processes has brought about three major strategies to cure and prevent neurological and psychiatric diseases: creation of new drugs, regeneration and transplantation therapy, and gene therapy. An epoch-making progress in medicine is expected to arise from the combination of these three strategies. A trend expected in the 21st century is developmental neuroscience on the growth and differentiation of brains. Cognitive and computational neuroscience will also aim at the clarification of information processes of brains. Neuroscience will exert great influence on pediatrics, in particular on the studies of mental development in childhood.
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  • Yuhei Miyata, Sachio Takashima
    1999 Volume 31 Issue 2 Pages 120-121
    Published: March 01, 1999
    Released: August 10, 2011
    JOURNALS FREE ACCESS
    Apoptosis is one type of cell death characterized morphologically by nuclear condensation and shrinkage of cell bodies. Thus, it is completely different from necrosis in features. Recently, it is suggested that apoptosis occurs in some neurodegenerative diseases of childhood as well as adulthood. Therefore, it is very important to reveal mechanisms of neuronal apoptosis. To the end, it is expected that new therapies will be developed to prevent the progress of neurodegenerative diseases. Based on such expectation, this symposium was organized to present recent progress in neuronal apoptosis research.
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  • Shigeo Ohta, Yoshitomo Ishibashi
    1999 Volume 31 Issue 2 Pages 122-128
    Published: March 01, 1999
    Released: August 10, 2011
    JOURNALS FREE ACCESS
    Apoptosis is a cell death process morphologically distinct from necrosis. Cells undergoing apoptosis shrink, the plasma membrane forms blebs, and the nucleus condenses. The nuclear DNA is degraded into oligonucleosomal fragments. Apoptosis plays regulatory and protective roles by eliminating unnecessary and dangerous cells, respectively. Many factors involved in apoptosis have been identified, their roles and interactions being understood at the molecular level. The bc1-2 family regulates apoptosis, and its members are classified into two groups: anti-apoptotic that inhibits apoptosis and pro-apoptotic that induces or accelerates it. The members form dimers to inactivate each other. Caspases cleave other members of the caspase family to activate their proteolytic activity in a cascade-like fashion, and the final target proteins prosecute apoptosis. In the case of Fas or tumor necrosis factor receptors, apoptotic signals are transmitted to the caspases via protein-protein interactions, whereas in other cases they originate from mitochondria. In the early process of apoptosis, cytochrome c, which usually is involved in the respiratory chain, is released from mitochondria into the cytosol, then bind to Apaf-1, a homologue of CED-4 of nematoda, to process pro-caspase-9. The resulting activated caspase-9 cleaves pro-caspase-3 into an activated form, which is responsible for the later process of apoptosis.
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  • Hidenori Suzuki
    1999 Volume 31 Issue 2 Pages 129-134
    Published: March 01, 1999
    Released: August 10, 2011
    JOURNALS FREE ACCESS
    Neurotrophic factors are endogenous soluble proteins regulating development, differentiation, and survival of neurons. They are secreted from target cells or surrounding glial cells and act on the neurons via their receptors on the cell membranes. Several factors are reported to promote survival of motor neurons in vitro and to rescue developing motor neurons from naturally occurring cell death. Administration of the factors has also been shown to rescue motor neurons from degeneration after axotomy in adult as well as neonatal rodents. On the basis of these lines of evidence, neurotrophic factors have been considered to be potential candidates for drugs alleviating human motor neuron diseases such as amyotrophic lateral sclerosis (ALS). Although some factors such as ciliary neurotrophic factor and brain- derived neurotrophic factor slowed down the disease progression in animal models of motor neuron disease, phase i clinical trials showed no therapeutic effects for ALS patients treated with these factors. There may be some reasons for this lack of success in humans. Several important issues remain to be resolved such as the drug delivery systems for neurotrophic factors and combination of neurotrophic factors with complementary effects.
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  • Masashi Mizuguchi
    1999 Volume 31 Issue 2 Pages 135-139
    Published: March 01, 1999
    Released: August 10, 2011
    JOURNALS FREE ACCESS
    Apoptosis is a physiological phenomenon that occurs extensively in the developing central nervous system (CNS). The death of neural cells is strictly controlled by the bcl-2 family and other regulatory systems. In particular, neurons are prevented from undergoing apoptosis by multiple mechanisms such as their intracellular control device and neurotrophic factors delivered by their innervating neurons, target cells and surrounding glial cells. A defect in any of these may cause a CNS malformation due to massive neuronal death.
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  • Masayuki Itoh
    1999 Volume 31 Issue 2 Pages 140-145
    Published: March 01, 1999
    Released: August 10, 2011
    JOURNALS FREE ACCESS
    Perinatal brain damages are caused mainly by circulation insufficiency due to intrauterine or birth asphyxia. Hypoxic-ischemic encephalopathy (HIE) and pontosubicular neuronal necrosis (PSN) are typical perinatal ischemic diseases. We investigated the expression of apoptosis in these diseases, using TdT-mediated dUTP nick end labeling (TUNEL) method and immunohistochemistry with Bc1-2, Bcl-x, Bak and caspase 3 (CPP 32). In HIE, Purkinje cells showed overexpression of Bc1-2 and CPP 32, and some karyorrhectic cells were positive for TUNEL. In PSN, neurons of the pontine nuclei showed overexpression of Bcl-x and CPP 32, and most karyorrhectic neurons were positive for TUNEL. Immature neurons were susceptible to these changes. Apoptosis may play an important role in the pathomechanism of perinatal ischemic brain damages.
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  • Masaharu Hayashi
    1999 Volume 31 Issue 2 Pages 146-152
    Published: March 01, 1999
    Released: August 10, 2011
    JOURNALS FREE ACCESS
    Apoptotic cell death was examined in autopsied brains with Werdnig Hoffmann disease, hereditary DNA repair disorders (xeroderma pigmentosum and Cockayne syndrome) and neuronal ceroid lipofuscinosis, using in situ nick end labeling (TUNEL) and immunohistochemistry for cell death-related proteins. TUNELpositive cells were found in the thalamus, cerebellum and/or hippocampus in each disorder. The expression of cell death-related proteins in the cerebellum of hereditary DNA repair disorders and the hippocampus of neuronal ceroid-lipofuscinosis suggested the involvement of apoptotic process in neurodegeneration in these disorders. On the other hand, TUNEL-reactivity without the altered expression of cell death-related proteins might reflect neuronal changes preceding the thalamic degeneration in Werdnig-Hoffmann disease.
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  • Comparison between Three Hypnotics and Natural Sleep
    Yoshimitsu Takasaka, Tatsuya Ishikawa, Kumiko Mizuno, Chie Nakamura, A ...
    1999 Volume 31 Issue 2 Pages 153-158
    Published: March 01, 1999
    Released: August 10, 2011
    JOURNALS FREE ACCESS
    We compared the effects of three oral hypnotics, monosodium trichloroethyl phosphate (MTP), chloral hydrate (CH), and pentobarbital calcium (PTB), to those of non-medication on wake-sleep states and sleep activation of epileptic seizure discharges. The subjects consisted of 410 epileptics and 171 non-epileptic outpatients (mean age: 12.5 years) of the Department of Pediatrics, Nagoya City University Hospital. Complete EEG records including awake and sleep states were obtained in 230/241 (95%) of patients with MTP, 20/22 (91%) of those with CH, 72/85 (85%) of those with PTB, and 225/233 (97%) of those without any hypnotics. There were no statistically significant differences in the effect of sleep induction among the four groups. Sleep activation effects were observed in 25% of patients with natural sleep and 35% of those with induced sleep. There was no statistical difference (p>0.05). These results suggested MTP, CH, and PTB are useful hypnotics for sleep EEG recordings.
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  • Keiko Okumura, Junichi Takanashi, Katsuo Sugita, Hiroo Niimi
    1999 Volume 31 Issue 2 Pages 159-164
    Published: March 01, 1999
    Released: August 10, 2011
    JOURNALS FREE ACCESS
    We reported a 15-year-old boy with hypertensive encephalopathy secondary to nephrotic syndrome (minimal change). Based on his clinical symptoms such as anasarca and oliguria, and laboratory data, he was diagnosed as having nephrotic syndrome, and treated with corticosteroid. On the 6th days of admission, he experienced multifocal seizures with hypertension. Cranial weighted MR imaging revealed multiple small cortical and subcortical high intensity lesions in the parieto-occipital lobes, and bilateral round shaped lesions in the cerebellar white matter. He was successfully treated with antihypertensive and anticonvulsant drugs. One year later, a follow up MR imaging revealed almost complete resolution of the brain lesions.
    MR imaging is a useful modality to demonstrate the lesions characteristic of hypertensive encephalopathy, which are distributed in the areas of posterior circulation.
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  • Shuko Yoshimi, Yutaka Osako, Makoto Nishibatake, Kazuhiro Kamuro
    1999 Volume 31 Issue 2 Pages 165-170
    Published: March 01, 1999
    Released: August 10, 2011
    JOURNALS FREE ACCESS
    In an infant with tuberous sclerosis and West syndrome, ACTH treatment was interrupted because of augmentation of the biventricular outflow tract obstruction. A 5-month-old boy, who had been diagnosed to have multiple cardiac tumors since in utero, manifested West syndrome with typical hypsarhythmia in EEG. Several days after starting low dose ACTH treatment, a systolic murmur due to biventricular outflow tract obstruction intensified with ventricular arrhythmia. A tumor in the left ventricular outflow tract was enlarged. Discontinuation of daily administration of ACTH and administration of a beta- blocking agent improved the cardiac problems. Acceleration of blood velocity in the outflow tracts disappeared two months later. Intracardiac morphology and hemodynamic performance should be monitored to avoid critical complications during ACTH treatment in patients with tuberous sclerosis.
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  • Kuriko Kagitani, Mariko Fukunishi, Toshiyuki Mano, Taro Matsuoka, Kats ...
    1999 Volume 31 Issue 2 Pages 171-176
    Published: March 01, 1999
    Released: August 10, 2011
    JOURNALS FREE ACCESS
    Pelizaeus-Merzbacher disease (PMD) is a hereditary disorder with myelin dysplasia in the central nervous system. The connatal type is a more severe form compared to the classical type and shows developmental arrest or deterioration, nystagmus, spasticity, and/or convulsions in the neonatal period. A 1 1/4-year-old Japanese boy diagnosed as connatal type PMD is reported here. Soon after his birth, he demonstrated horizontal and rotatory nystagmus and opisthotonic posture. At the age of 10 months, he had difficulty in feeding. At the age of 1 year, he presented more severe opisthotonic posture and frequent vomiting. He showed deterioration in gross motor development. His chromosome analysis showed a normal male karyotype. Electroencephalogram did not show a sleep spindle. Auditory evoked brainstem responses (ABR) showed only wave I on both sides. Visual evoked potentials (VEP) showed prolongation of latencies. These results were compatible with PMD. Nuclear magnetic resonance imaging (MRI) demonstrated in the white matter of cerebrum and brainstem no high intensities on T1- wieghted images and diffuse high intensites on T2-weighted images. Such absence of myelination including the brainstem was characteristic to the connatal type PMD. The diffuse disturbance of myelination appeared to correlate with the severity of clinical symptoms.
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  • [in Japanese], [in Japanese]
    1999 Volume 31 Issue 2 Pages 177-178
    Published: March 01, 1999
    Released: August 10, 2011
    JOURNALS FREE ACCESS
  • [in Japanese]
    1999 Volume 31 Issue 2 Pages 186-187
    Published: March 01, 1999
    Released: August 10, 2011
    JOURNALS FREE ACCESS
    Download PDF (191K)
  • 1999 Volume 31 Issue 2 Pages 187
    Published: 1999
    Released: August 10, 2011
    JOURNALS FREE ACCESS
    Download PDF (69K)
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