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Volume 41, Issue 4
Displaying 1-15 of 15 articles from this issue
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  • Hedgehog Signaling Pathway and Human Disorders
    Katsunori Fujii, Toshiyuki Miyashita
    2009 Volume 41 Issue 4 Pages 247-252
    Published: 2009
    Released on J-STAGE: May 11, 2016
    DOIhttps://doi.org/10.11251/ojjscn.41.247
    JOURNAL FREE ACCESS
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      The hedgehog signaling pathway plays pivotal roles in embryonic development and cancer formation. This pathway in mammals consists of multiple molecules such as Sonic Hedgehog, PTCH, SMO, and GLI. Mutations of these components result in various human malformations or tumors, i.e., holoprosencephaly, Gorlin syndrome, Greig encephalopolysyndactyly, Pallister-Hall syndrome, Rubinstein-Taybi syndrome, basal cell carcinomas, and medulloblastomas. Recently, small molecules that inhibit this signaling pathway were developed, and clinically applied to cancer therapy. Thus, understanding of these molecular relationships may facilitate the development of new therapies and treatments for diseases caused by hedgehog signaling disorders.
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  • Clinical Manifestations in 25 Japanese Patients with Gorlin Syndrome
    Ryo Tanabe, Katsunori Fujii, Toshiyuki Miyashita, Hideki Uchikawa, Mam ...
    2009 Volume 41 Issue 4 Pages 253-257
    Published: 2009
    Released on J-STAGE: May 11, 2016
    DOIhttps://doi.org/10.11251/ojjscn.41.253
    JOURNAL FREE ACCESS
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      We investigated the clinical manifestations of 25 Japanese patients with Gorlin syndrome. We revealed the frequencies of major five symptoms in Japanese Gorlin syndrome patients, i.e. basal cell carcinomas (BCCs) (20%), jaw cysts (80%), palmar and plantar pits (64%), calcification of the falx cerebri (64%), and rib abnormalities (44%). Compared with the previous studies in the United States, the United Kingdom, and Australia, Japanese Gorlin syndrome patients showed a significantly lower rate of BCCs, and no medulloblastomas in this study. We also revealed minor symptoms which were not included in the diagnostic criteria, i.e. empty sellas, lipomas, ulcerative colitis, dysgenesis of the corpus callosum, and cardiac fibromas. We conclude that clinical manifestations other than major symptoms are quite variable, and racial differences may influence the occurrence of BCCs in Gorlin syndrome patients.
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  • PTCH1 Gene Analysis in 25 Japanese Patients with Gorlin Syndrome
    Mamiko Endo, Katsunori Fujii, Toshiyuki Miyashita, Hideki Uchikawa, Ry ...
    2009 Volume 41 Issue 4 Pages 259-263
    Published: 2009
    Released on J-STAGE: May 11, 2016
    DOIhttps://doi.org/10.11251/ojjscn.41.259
    JOURNAL FREE ACCESS
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      Gorlin syndrome is an autosomal dominant disorder characterized by congenital anomalies and tumorigenesis. The gene responsible for Gorlin syndrome is PTCH1, a human homologue of the Drosophila segment polarity gene, patched. We analysed the PTCH1 gene in 25 patients in 22 families with Gorlin syndrome. We detected PTCH1 mutations in 22 patients in 19 families, including insertion/deletion mutations in 13 patients in 11 families (86%), chromosomal deletions in 4 patients in 3 families (16%), nonsense mutations in 2 patients in 2 families (11%), splicing mutations in 3 patients in 3 families (16%), and a missense mutation in 1 patient (5.3%). The sixteen mutations were distributed in extracellular loops (10 mutations: 63%), intracellular loops (four mutations: 25%), and transmembrane portions (two mutations: 13%). Our detection rate of PTCH1 mutations, i.e. 86%, was much higher than those previously reported from other countries. The differences may be derived either from ethnicity or the detection methods.
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  • Conduct Disorders in Patients with Developmental Disabilities
    Hiroyuki Yokoyama, Mieko Hirose, Chieko Nara, Keisuke Wakusawa, Kazuhi ...
    2009 Volume 41 Issue 4 Pages 264-267
    Published: 2009
    Released on J-STAGE: May 11, 2016
    DOIhttps://doi.org/10.11251/ojjscn.41.264
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      We has been 13 cases of conduct disorder (CD) with developmental disabilities for 10 years. These cases were judged as pre-delinquent states at 8.9 years old (average) and as CD at 12.5 years old. All of these children had been maltreated by their parents. Except for 4 cases who were in juvenile reformatory or prison, 5 of 9 cases were transferred to protective custodial institutions. Custodial intervention could successfully amend CD symptoms in 4 cases.
      Compared with a gender-matched control group with the same developmental disabilities, the CD group showed a significantly higher rate of maltreatment and a higher divorce rate among the parents. The number of parents with psychiatric disorders was not significantly different between the two groups, although parents of the control group were receiving psychiatric treatment significantly more often than those of CD group.
      This study suggested that therapeutic intervention is important for preventing CD to not only in children but also in their parents. Further investigations on the measures to intervene in families with a pre-delinquent child is required.
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  • A Follow-Up Study of 6 Year-Old Kindergarten Children at One Year after They Participated in a Pilot Medical Examination
    Mariko Yuge, Yui Zen
    2009 Volume 41 Issue 4 Pages 269-274
    Published: 2009
    Released on J-STAGE: May 11, 2016
    DOIhttps://doi.org/10.11251/ojjscn.41.269
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      A follow-up study of 129 kindergarten children was undertaken in 2007 by the same questionnaire survey among nurses that was conducted as a part of pilot study in 2006.
      Among 103 children, 86 were comprehensively assessed as “normal”, and 17 had been assessed to have difficulties in group action at the pilot medical examination.
      In the follow-up study, we found that among the children who were previously been assessed as “normal”, approximately 90 percent were re-assessed as “normal”, though 10 percent of them showed signs of mild delay and/or failure to adapt in group action; and that 65 percent of the 17 children who were assessed to have difficulties in group action at the pilot medical examination showed signs of failure to adapt in group action and/or mild delay.
      Utilizingκstatistics, the analysis of coincidences between the answer to the questionnaires for nurses obtained at the pilot medical examination and those obtained in follow-up study revealed that little improvement could be expected by altering daily care for children with such behavioral problems characterized as “poor concentration due to the stimulation from outside”, “clumsiness” and “restlessness”. It was suggested that these behavioral problems were due to biological traits; whereas in problems as “a tendency to persistence”, “does not follow instructions”, “does not remain seated” and “apt to be in a temper”, improvements could be expected when adjustments were made in the environment of daily life.
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  • Study on the Etiology and Treatment of Tracheal Granulation Tissue in Patients with Severe Motor and Intellectual Disabilities
    Yuji Mizuno, Momoko Sasazuki, Miyuki Aibe, Satoshi Honjo
    2009 Volume 41 Issue 4 Pages 275-278
    Published: 2009
    Released on J-STAGE: May 11, 2016
    DOIhttps://doi.org/10.11251/ojjscn.41.275
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      A total of 40 patients (163 examinations) with severe motor and intellectual disabilities were enrolled for videofiberscopic investigation of granulation tissue in the trachea. Their ages ranged from 2 to 52 years (mean: 23.2 years). Seven out of 11 patients (63.6%) with an endotracheal tube and 17 out of 21 patients (81.0%) with a tracheostomy tube had tracheal granulation tissue. The tracheal granulations were mainly located near the tip of the tube and tended to develop on the anterior wall of the trachea. For the treatment of the granulation tissue, the tube was changed to an adjustable cannula in 9 cases and laser ablation was done in 6, with relapse occurring in 5 and 4 cases, respectively. Local application of mitomycin C achieved a good outcome in 2 relapsing cases. Tracheal deformity due to torticollis, cervical lordosis, and thoracic deformity may cause tracheal granulation tissue in patients with severe motor and intellectual disabilities. In addition to changing the tube length and/or laser ablation, local application of mitomycin C may be a useful treatment for tracheal granulation tissue.
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  • Epidemiological Study of Cerebral Palsy in Shiga Prefecture, Japan, during 1977-2000 Part 1: Incidence Pattern of Cerebral Palsy in Shiga Prefecture with Reference to Birth Weight and Gestational Age
    Junko Suzuki, Tomoko Miyajima, Tatsuya Fujii
    2009 Volume 41 Issue 4 Pages 279-283
    Published: 2009
    Released on J-STAGE: May 11, 2016
    DOIhttps://doi.org/10.11251/ojjscn.41.279
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      The prevalences of cerebral palsy (CP) among 6-year-old children in Shiga Prefecture born during 1977-2000 were compared in eight successive 3-year periods (period I-VIII) with reference to birth weight and gestational age.
      During the 24-year surveillance period, among 349,514 children born in Shiga Prefecture, 569 children had CP at the age of 6 years, thus the prevalence was 1.63 per 1,000 live births. The prevalence increased significantly in period V compared to previous periods. There were no significant differences among period V-VIII.
      The proportion of CP with low birth weight and lower gestational age increased progressively, and two-thirds of CP in the period VIIIhad a LBW and/or preterm gestation.
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  • Epidemiological Study of Cerebral Palsy in Shiga Prefecture, Japan, during 1977-2000 Part 2: Etiologies and Risk Factors of Cerebral Palsy in Shiga Prefecture
    Junko Suzuki, Tomoko Miyajima, Tatsuya Fujii
    2009 Volume 41 Issue 4 Pages 284-288
    Published: 2009
    Released on J-STAGE: May 11, 2016
    DOIhttps://doi.org/10.11251/ojjscn.41.284
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      Etiologies and risk factors of 569 patients with cerebral palsy (CP) in Shiga Prefecture born during 1977-2000 were investigated. The patients with CP born at preterm and at term were separately analyzed.
      The main etiologies or risk factors for CP in preterm children were periventricular leukomalacia (PVL, 58%), multiple births (25%) and mechanical ventilation (45%). The prevalence rates of these increased in the latter half of the study period.
      The main etiologies or risk factors for CP in term children were brain dysplasia (17%), fetal brain vascular disorders (15%), hypoxic ischemic encephalopathy (14%), PVL (8%) and intrauterine growth retardation (19%). The prevalence rates among etiologies did not change during the study period.
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  • Epidemiological Study of Cerebral Palsy in Shiga Prefecture, Japan, during 1977-2000 Part 3: Clinical Features of Cerebral Palsy at Six Years of Age
    Junko Suzuki, Tomoko Miyajima, Tatsuya Fujii
    2009 Volume 41 Issue 4 Pages 289-293
    Published: 2009
    Released on J-STAGE: May 11, 2016
    DOIhttps://doi.org/10.11251/ojjscn.41.289
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      Clinical features of cerebral palsy (CP), including the types of CP, severity of disability and complications were evaluated at six years of age in 569 children with CP in Shiga Prefecture born in 1977-2000.
      Spastic diplegia and tetraplegia accounted for the vast majority, 43% and 28%, respectively. Hemiplegia was present in 18%, dyskinetic type in 6% and ataxic type in 5% of the subject children respectively. Spastic diplegia increased and dyskinetic type decreased in the latter half of the study period. The prevalence of diplegia and tetraplegia among those born at preterm increased in the latter half of the study period. Forty-four percent of the children could walk alone at six years of age, 5% walked with a crutch, 14% crawled and 37% could not crawl. Non-walkers in preterm children with CP who were born at preterm increased in the latter half of the study period. Thirty-one percent of the children had normal intelligence, 12% were mildly retarded, 25% were moderately and 32% were severely retarded. Children with normal intelligence born at preterm decreased in the latter half of the study period. Forty-two percent of all children developed epilepsy by six years of age. Severe motor disability, severe mental retardation and epilepsy were present more frequently among children born at term than at preterm.
      A break in the increasing CP trend both in the prevalence and degree of disability was not recognized in Shiga Prefecture during the study period, although neonatal care markedly improved.
      Despite the progress and improvement of neonatal care, no decrease in the prevalence or severity of CP was observed in Shiga Prefecture during the study period.
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  • Female with Dentatorubral-Pallidoluysian Atrophy Followed for 14 Years from the Pre-Clinical Stage: Availability of Gait Analysis
    Mana Kurihara, Kayoko Takahashi, Toshitaka Kohagizawa, Yuko Yamauchi, ...
    2009 Volume 41 Issue 4 Pages 294-298
    Published: 2009
    Released on J-STAGE: May 11, 2016
    DOIhttps://doi.org/10.11251/ojjscn.41.294
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      We presented a 28-year-old female with dentatorubral-pallidoluysian atrophy (DRPLA) who had been followed from the pre-clinical stage. Her mother and elder brother were diagnosed as DRPLA at autopsy. Though the genetic diagnosis was not performed, we diagnosed this patient as DRPLA from her clinical course and family history. She first visited our hospital at age 14 with a symptoms of mental retardation. Generalized tonic-clonic type epilepsy developed at age 15, and valproate was prescribed from age 24. Gait disturbance and mental deterioration gradually progressed from age 15. We had performed gait analyses and brain MRI studies at regular intervals from age 14 to 27. she could walk even with gait disturbance until her early 20s. At one year after marked ataxia was recorded on gait analysis, she rapidly regressed and became unable to walk. Following this patient over a long period of time presented an opportunity to gather informative data regarding the progression of this disorder.
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