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Morota N.,National Medical Center for Children and Mothers
Japanese Journal of Neurosurgery | Year: 2011

Neurosurgical long-term management of myelomeningocele(MMC) involves hydrocephalus, Chiari malformation type 2(CM2), and tethered spinal cord. The rate of hydrocepalus requiring a VP shunt is reported to be declining to about 60% in some series. Shunt insufficiency can develop in more than 90% of those with VP shunts and the life-long management of VP shunt is a mandate. CM2, once regarded as life-threatening when it becomes symptomatic in infancy, also causes chronic respiratory problem for 20-60% of adult patients with MMC. Tethered cord syndrome(TCS) after MMC repair requiring surgical release develops in about 20-30% of patient. TCS often becomes symptomatic from school age to adolescence and careful observation is necessary for those children with MMC. Currently, MMC is no longer a seriously disabling disease as more than half (60-70%) of all patients are expected to return to social activity with some limitation. Finally late deterioration of neurological function as patients survive longer should be considered during the long-term follow-up for MMC patients.

Kaneko Y.,National Medical Center for Children and Mothers
Kyobu geka. The Japanese journal of thoracic surgery | Year: 2012

Appropriate treatment strategy for congenital heart disease may be influenced by coexisting congenital anomalies of respiratory or digestive system. Typical congenital anomalies that coexist frequently with congenital heart diseases and have influence on treatment strategy of congenital heart disease include trecheoesophageal fistula, diaphragmatic hernia, and tracheal stenosis. In neonates with congenital heart disease and tracheoesophageal fistula (the fistula) should be immediately repaired after birth, followed by cardiac surgery to ameliorate heart failure or hypoxemia if feasible. In neonates with congenital heart disease and diaphragmatic hernia, diaphragmatic hernia repair is performed first unless heart disease is life threatening. In patients with congenital heart disease and tracheal stenosis, concomitant repair of heart disease and tracheal stenosis is a reasonable strategy in most patients. The treatment of patients with congenital heart disease and coexisting congenital anomalies of respiratory or digestive system remains challenging. We believe that properly organized management by multidiciplinary approach is essential for best achievable outcome.

Morota N.,Tokyo Metropolitan Childrens Medical Center | Ihara S.,Tokyo Metropolitan Childrens Medical Center | Ogiwara H.,National Medical Center for Children and Mothers
Neurologia Medico-Chirurgica | Year: 2015

A paradigm shift is currently ongoing in the treatment of spasticity in childhood in Japan. Functional posterior rhizotomy (FPR), which was first introduced to Japan in 1996, is best indicated for children with spastic cerebral palsy, regardless of the clinical severity of spasticity. Surgery is generally carried out in the cauda equina, where the posterior root is separated from the anterior one, and neurophysiological procedures are used to judge which nerve root/rootlet should be cut. The outcome of FPR is favorable for reducing spasticity in the long-term follow-up. Intrathecal baclofen (ITB) treatment for childhood spasticity was approved in 2007 in Japan and the number of children undergoing ITB pump implantation has been gradually increasing. ITB treatment is best indicated for children with severe spasticity, especially those with dystonia, regardless of the pathological background. Since it is a surgery performed to implant foreign bodies, special attention should be paid to avoid perioperative complications such as CSF leakage, meningitis, and mechanical failure. Severely disabled children with spasticity would benefit most from ITB treatment. We would especially like to emphasize the importance of a strategic approach to the treatment of childhood spasticity. The first step is to reduce spasticity by FPR, ITB, and botulinum toxin injection. The second step is to aim for functional improvement after controlling spasticity. Traditional orthopedic surgery and neurorehabilitation form the second step of treatment. The combination of these treatments that allows them to complement each other is the key to a successful treatment of childhood spasticity. © 2015, Japan Neurosurgical Society. All rights reserved.

Inoue H.,Tokushima University | Kangawa N.,Tokushima University | Kinouchi A.,Tokushima University | Sakamoto Y.,Tokushima University | And 6 more authors.
Clinical Endocrinology | Year: 2011

Context Growth hormone-releasing hormone receptor (GHRHR) gene mutations have been identified in patients of different ethnic origins with isolated GH deficiency (IGHD) type IB. However, the prevalence of these mutations in the Japanese population has yet to be fully determined. Objectives This study aimed to evaluate the contributions of GHRHR mutations to the molecular mechanism underlying short stature in Japanese subjects. Design The GHRHR gene was sequenced in 127 unrelated Japanese patients with either IGHD (n = 14) or idiopathic short stature (ISS; n = 113). Sequence variants were evaluated in family members and 188 controls, and then examined in functional studies. Results A novel homozygous E382E (c.1146G>A) synonymous variant, at the last base of exon 12, was identified in an IGHD family with two affected sisters. In vitro splicing studies showed this mutation to result in skipping of exon 12. In one ISS patient, a heterozygous ATG-166T>C variant was found in the distal Pit-1 P2 binding element of the GHRHR promoter. In two control subjects, a close but distinct variant, ATG-164T>C, was detected. Functional studies showed that both promoter variants diminish promoter activity by altering Pit-1 binding ability. Four missense variants were also found in both patient and control groups but had no detectable functional consequences. Conclusions The homozygous GHRHR mutation was rare, being detected in only one Japanese IGHD family. Future research is needed to clarify the genetic contributions of heterozygous functional promoter variants to GHD, ISS and normal-stature variations. © 2011 Blackwell Publishing Ltd.

Gu Y.-H.,Teikyo University | Yokoyama K.,Jichi Medical University | Mizuta K.,Jichi Medical University | Tsuchioka T.,Dokkyo Medical University | And 6 more authors.
Journal of Pediatrics | Year: 2015

Objective To evaluate the sensitivity and specificity of a stool color card used for a mass screening of biliary atresia conducted over 19 years. In addition, the age at Kasai procedure and the long-term probabilities of native liver survival were investigated. Study design From 1994 to 2011, the stool color card was distributed to all pregnant women in Tochigi Prefecture, Japan. Before or during the postnatal 1-month health checkup, the mothers returned the completed stool color card to the attending pediatrician or obstetrician. All suspected cases of biliary atresia were referred for further examination. Diagnosis was confirmed by laparotomy or operative cholangiography for high-risk cases before the Kasai procedure. Patients with biliary atresia were followed from the date of their Kasai procedure until liver transplantation, death, or October 31, 2013, whichever comes sooner. Results A total of 313 230 live born infants were screened; 34 patients with biliary atresia were diagnosed. The sensitivity and specificity of stool color card screening at the 1-month check-up was 76.5% (95% CI 62.2-90.7) and 99.9% (95% CI 99.9-100.0), respectively. Mean age at the time of Kasai procedure was 59.7 days. According to Kaplan-Meier analysis, the native liver survival probability at 5, 10, and 15 years was 87.6%, 76.9%, and 48.5%, respectively. Conclusions The sensitivity and specificity of the stool color card have been demonstrated by our 19-year cohort study. We found that the timing of Kasai procedure and long-term native liver survival probabilities were improved, suggesting the beneficial effect of stool color card screening. Copyright © 2015 Elsevier Inc. All rights reserved.

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