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Online ISSN : 1884-7668
Print ISSN : 0029-0831
ISSN-L : 0029-0831
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Volume 45, Issue 6
Displaying 1-10 of 10 articles from this issue
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  • CD38 and autism spectrum disorders
    Haruhiro Higashida, Toshio Munesue
    2013 Volume 45 Issue 6 Pages 431-435
    Published: 2013
    Released on J-STAGE: October 11, 2014
    DOIhttps://doi.org/10.11251/ojjscn.45.431
    JOURNAL FREE ACCESS
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      We have demonstrated that CD38, a transmembrane protein with ADP-ribosyl cyclase activity, plays a critical role in mouse social behavior by regulating the release of oxytocin (OXT), which is essential for mutual recognition. When CD38 was disrupted, social amnesia was observed in Cd38 knockout mice. We investigated single nucleotide polymorphisms (SNPs) in the human CD38 gene in autism spectrum disorder (ASD) patients. The SNP rs3796863 (A>C) was associated with high-functioning autism (HFA) in American samples. Although this finding was partially confirmed in low-functioning autism subjects in Israel, it has not been replicated in Japanese HFA subjects. The second SNP of interest, rs1800561 (4693C>T), leads to the substitution of an arginine (R) at codon 140 by tryptophan (W; R140W) in CD38. This mutation was found in 4 probands of ASD and in family members of 3 pedigrees with variable levels of ASD or ASD traits. The plasma levels of OXT in ASD subjects with the R140W allele were lower than those in ASD subjects lacking this allele. One proband with the R140W allele receiving intranasal OXT for approximately 3 years showed improvement in areas of social approach, eye contact and communication behaviors, emotion, irritability, and aggression. Five other ASD subjects with mental deficits received nasal OXT for various periods; three subjects showed improved symptoms, while 2 showed little or no effect. These results suggest that SNPs in CD38 may be risk factors for ASD by abrogating the OXT function, and that some ASD subjects can be treated with OXT in preliminary clinical trials.
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  • Immunohistochemical analysis of brainstem functions in autopsy cases of Fukuyama congenital muscular dystrophy
    Keisuke Nakajima, Masaharu Hayashi
    2013 Volume 45 Issue 6 Pages 436-439
    Published: 2013
    Released on J-STAGE: October 11, 2014
    DOIhttps://doi.org/10.11251/ojjscn.45.436
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      Objective: Sudden unexpected death (SUD) may occur in patients with Fukuyama congenital muscular dystrophy (FCMD). In this study, we performed immunohistochemical examination of SUD-related functional markers in the brainstem of autopsy cases of FCMD, in order to clarify the pathogenesis of SUD. Methods: The examination was conducted on 9 autopsy cases of FCMD, including a case of SUD and 3 of acute death (AD) in which SUD was suspected but not confirmed. We immunohistochemically examined serial brainstem sections for serotonin and catecholamine neurons, neuropeptides, and c-Fos, a neuron activation marker. Results: 1) Number of serotonin neurons was reduced in 7 cases, including the cases of SUD and AD. 2) Expressions of neuropeptides were exaggerated in the spinal trigeminal nucleus in 5 cases, including the SUD and AD ones. 3) Neurons immunoreactive for c-Fos were found in 3 cases, including the SUD and AD cases. 4) The suspected case of SUD showed changes in all SUD markers. Conclusions: Changes in the tested markers were found predominantly in the SUD and AD cases, indicating functional fragility in the brainstem of patients with FCMD.
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  • Treatment with ramelteon for sleep disturbance in severely disabled children and young adults
    Akie Miyamoto, Ikue Fukuda, Hajime Tanaka, Ryuuji Oka, Akiko Araki, Ka ...
    2013 Volume 45 Issue 6 Pages 440-444
    Published: 2013
    Released on J-STAGE: October 11, 2014
    DOIhttps://doi.org/10.11251/ojjscn.45.440
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      Objective: The aim of this study was to determine the efficacy and safety of ramelteon for severely disabled children and young adults who had already been treated for sleep disturbance with melatonin at a dose of 3 mg. Methods: Eleven patients, who were aged between 3-25 years and included 4 patients with cerebral palsy, -took 3-8 mg of ramelteon at bedtime, after a one-week of washout period. Sleep states were evaluated using sleep diaries recorded by caregivers or using actigraphs. Results: Ramelteon was effective in 8 out of the 11 patients. Ramelteon was tolerated well except for mild daytime sleepiness in three patients. Conclusions: This preliminary study showed the efficacy and safety of ramelteon for sleep disturbance in severely disabled children and young adults. Further trials are necessary to determine optimal dosage and safety of ramelteon in children.
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  • The association of hypocarnitinemia with enteral diets and antiepileptic drugs in children and adults with severe physical and mental disabilities
    Akiko Wakisaka, Yo Niida, Shinya Yamada, Takanori Tsuji, Nami Nakamura ...
    2013 Volume 45 Issue 6 Pages 445-450
    Published: 2013
    Released on J-STAGE: October 11, 2014
    DOIhttps://doi.org/10.11251/ojjscn.45.445
    JOURNAL FREE ACCESS
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      Objective: To examine the risk factors of hypocarnitinemia and hypocarnitinemic symptoms in children and adults with severe physical and mental disabilities. Methods: The status of hypocarnitinemia as well as the related symptoms were assessed in a total of 78 children and adults with severe physical and mental disabilities who were admitted to National Hospital Organization Iou National Hospital. Their enteral diets and the medication of antiepileptic drugs were evaluated. Results: Markedly decreased blood carnitine levels were noted in patients undergoing an enteral diet without carnitine supplementation as well as in those receiving a combination of valproate sodium (VPA) and phenobarbital (PB). These hypocarnitinemic patients tended to have more frequent episodes of hypoglycemia and hyperammonemia. Conclusions: Supplemental L-carnitine is needed in patients receiving an enteral diet free of carnitine, those with combination therapy of VPA and PB under oral feeding conditions, and those who develop hyperammonemia during VPA therapy. Patients who received a carnitine-supplemented enteral diet maintained their serum carnitine levels with a relatively low supplemental dose of carnitine.
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  • Sibling cases of severe infantile form of nemaline myopathy with ACTA1-gene mutation
    Akira Sudo, Yukiko Hayashi, Hitomi Sano, Nobuaki Kawamura, Ichizo Nish ...
    2013 Volume 45 Issue 6 Pages 452-456
    Published: 2013
    Released on J-STAGE: October 11, 2014
    DOIhttps://doi.org/10.11251/ojjscn.45.452
    JOURNAL FREE ACCESS
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      Severe infantile form of nemaline myopathy is clinically characterized by marked muscle hypotonia and weakness with respiratory and feeding difficulties since infancy. Recently, mutations in the skeletal muscle α-actine gene (ACTA1) have been identified in many patients with the nemaline myopathy. We experienced two cases of severe infantile form of nemaline myopathy with ACTA1 mutation (missence heterozygous mutation; c.553C>T, p.R185C) in siblings presenting with different clinical symptoms and courses. The elder brother was a typical “floppy infant” at birth. Because he could not suck and swallow at all, he was fed completely through a nasogastric tube. At 2 months of age, he developed respiratory insufficiency and was placed on a respirator all day. He was diagnosed with having nemaline myopathy from his muscle biopsy, which revealed marked variation in muscle fiber size with large numbers of nemaline bodies on Gomori-trichrome stain. In contrast, the younger brother presented with mild muscular hypotonia and feeding difficulty during the neonatal stage; therefore, he was partly fed through a nasogastric tube. At 2 months of age, he was admitted to our hospital because of respiratory distress, and he required nasal continuous positive airway pressure with oxygen followed by noninvasive positive pressure ventilation intermittently, mainly at night. He was followed at his home by parents with no serious problems; however he unexpectedly died at the age of 15 months.
     Although most cases of severe infantile form of nemaline myopathy caused by ACTA1 mutations are sporadic and have no family history, we emphasize that clinical symptoms are variable in siblings with the same mutation.
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  • Acute encephalitis presenting with symmetrical involvement of the bilateral basal ganglia
    Hiromi Arai, Tomohide Goto, Naoko Kimura, Sahoko Miyama
    2013 Volume 45 Issue 6 Pages 457-460
    Published: 2013
    Released on J-STAGE: October 11, 2014
    DOIhttps://doi.org/10.11251/ojjscn.45.457
    JOURNAL FREE ACCESS
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      A 8-year-old girl was hospitalized with consciousness disturbance and involuntary movements five days after the onset of fever. Cranial MRI revealed symmetrical involvement of the bilateral basal ganglia with elevated ADC mapping, suggesting vasogenic edema. Her clinical symptoms improved with methylprednisolone pulse therapy without neurological sequelae. The rapid antigen test for group A β-hemolytic streptococcus was positive and serum ASO was elevated. Myelin basic protein in cerebrospinal fluid was elevated. We suggest that the pathophysiological mechanism in the present case was not necrotic/cytotoxic but autoimmune inflammation, which is compatible with acute disseminated encephalomyelitis associated with streptococcal infection.
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