George Imataka

..In this review, we will explain the principle of the spectral karyotyping, as well as its specificity and limitation in detecting the genetic defects within clinical application by presenting two case reports...

..We, therefore, concluded that the longterm intraventricular IFN-α/β infusion therapy of SSPE involved the potential risk of DIAM with serious irreversible neurological sequelae and should be monitored carefully...

..In this case, intraoperative electrocorticography was very useful to identify the possible focus and prevent unnecessary resection of the adjacent tissue. Total removal of the tumor resulted in a dramatic reduction of seizure activity...

..This evidence is valuable in order to perform genetic counseling concerning the natural history of trisomy 18 not only in Japan but also in other countries...

..There are various types of chromosomal abnormalities associated with DWS; most of them are reported in chromosome 3, 9, 13 and 18. We also summarize some other chromosomal abnormalities and various congenital malformation syndromes...

..Here, we report the course of the case, and discuss the way prenatal ultrasonography should be used as a prenatal screening method, and the importance of counseling before the test...

..This patient remained well controlled in complete remission for 4 years, representing a rare case of DS with chemotherapy-resistant AML successfully treated with a CBT...

..This study provides useful information concerning genetic counseling, especially from an ethical point of view, before providing intensive management to newborns with trisomy 13...

..The occurrence of acute encephalopathy in children with Dravet syndrome has been reported sporadically. This study clarified the features of acute encephalopathy in children with Dravet syndrome...

..Cerebral atrophy was nonexistent 2 months later. This rapidly developing but reversible alteration of consciousness in parallel with brain atrophy is recognized as a rare idiosyncratic adverse effect of valproic acid...

..One of the two patients with del(15)(q12)[Angelman syndrome] had giant-amplitude visual evoked potential, suggesting hyperexcitability of the visual cortex...

..These unique features suggest that the frontal lobes are the focus of this novel subtype of acute encephalopathy, which we propose to call acute infantile encephalopathy predominantly affecting the frontal lobes...

..The X-inactivation analysis of the patients lymphocytes showed a random pattern of X-chromosome inactivation. To our knowledge, this is the first confirmed report of XLT in a female...

..We believe that the combination of these two malfornative disorders was not coincidental; instead, fetal circulatory disturbance related to chronic abruptio placentae could account for this combination...

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..We identified that cord blood cells were different from normal peripheral blood cells and bone marrow cells, confirming the functional differences that were previously assumed...

..The modulatory effect of in vitro IgG was not observed in neutrophils from healthy volunteers and was significantly correlated with the antifebrile effect of in vivo IgG...

..We concluded that this phenomenon is one of the pathogeneses of CIPA...

..We consider that midazolam is effective and relatively safe for the management of neonatal seizures...

..To determine the effect of intravenous immunoglobulin (IVIG) on neutrophil count, the authors studied patients with idiopathic thrombocytopenic purpura (ITP)...

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..To examine the relation between outcome and treatment with steroids and gammaglobulin in children with acute necrotizing encephalopathy...

..After completing 6 months of chemotherapy, the patient has been disease-free without neurologic complications for 2.5 years...

..These findings suggest that LAF4, AF4 and AF5q31 might define a new family particularly involved in the pathogenesis of 11q23-associated ALL...

..The patient simultaneously developed severe pneumonia and died in February, 1998. A lineage switch on relapse and resistance to chemotherapy may be associated with the occurrence of genetic aberration...