“Variability of speech errors” has been accepted as a distinguishing feature of apraxia of speech（AOS）, but in recent years this concept has been challenged. We examined whether variability of speech ...errors is useful to distinguish AOS from conduction aphasia or ataxic dysarthria. This study was conducted in three groups: (1) AOS group (with mild aphasia) , (2) conduction aphasia group (CA group) , and (3) ataxic dysarthria group (AD group) . The study consisted of a task of repeating each word three times, and four measures of variability (variability of error type, variability of error location, error rate, correction rate) were calculated based on Scholl et al. (2018) . The results showed a significant difference between the AOS group and the CA group on the two scales of “variability of error location” and “correction rate,” and both scales showed a significant difference between the CA group and the AD group. The AOS group and the AD group showed no difference on all four scales. These results were mostly consistent with the results of McNeil et al. (1995) . We concluded that variability of speech errors is not a feature exclusive to AOS, but that it may be of limited use as a feature that distinguishes AOS from CA.
Neurocutaneous melanosis (NCM) is a rare congenital neurocutaneous syndrome characterized by congenital melanocytic nevus of skin and abnormal proliferation of leptomeningeal melanocytes. Early ...acquisition of post-zygotic somatic mutations has been postulated to underlie the pathogenesis of NCM. The pathogenesis of NCM remains to be fully elucidated, and treatment options have not been established. Here, we report for the first time, multiregional genomic analyses in a 3-year-old autopsied girl with leptomeningeal melanomatosis associated with NCM, in which a ventriculo-peritoneal (VP) shunt was inserted for the treatment of hydrocephalus. The patient expired six months after the onset due to respiratory failure caused by abdominal dissemination via VP shunt. We performed multiregional exome sequencing to identify genomic differences among brain and abdominal tumors, nevus, and normal tissues. A total of 87 somatic mutations were found in 71 genes, with a significantly large number of gene mutations found in the tumor site. The genetic alterations detected in the nevus were only few and not shared with other sites. Three mutations, namely GNAQ R183Q, S1PR3 G89S and NRAS G12V, considered pathogenic, were found, although S1PR3 mutations have not been previously reported in melanocytic tumors. GNAQ and S1PR3 mutations were shared in both tumor and normal sites. Moreover, the mutant allele frequencies of the two mutations were markedly higher in tumor sites than in normal sites, with copy-neutral loss-of-heterozygosity (CN-LOH) occurring in tumor. NRAS mutation was found only in the abdominal tumor and was thought to be responsible for malignant progression in the present case. Multiregional comprehensive genetic analysis may lead to discovering novel driver mutations associated with tumorigenesis and targeted therapy.
Molecular analysis of the growing teratoma syndrome has not been extensively studied. Here, we report a 14-year-old boy with a growing mass during treatment for a mixed germ cell tumor of the pineal ...region. Tumor markers were negative; thus, growing teratoma syndrome was suspected. A radical resection via the occipital transtentorial approach was performed, and histopathological examination revealed a teratoma with malignant features. Methylation classifier analysis confirmed the diagnosis of teratoma, and
loss and 12p gain were identified by copy number variation analysis, potentially elucidating the cause of growth and malignant transformation of the teratoma. The patient remains in remission after intense chemoradiation treatment as a high-risk germ cell tumor.
The control of the coupling properties of a directional coupler formed in a planar lightwave circuit by proton irradiation was examined. Irradiation of the cladding between the two cores that ...constitute the coupling portion causes an increase in the coupling coefficient, whereas subsequent irradiation of the entire coupling portion decreases the coupling coefficient. The change in the coupling coefficient results in changes to the coupling ratios, which depend on the irradiated area and fluence. By adjusting these, the desired coupling property can be obtained. This method can be applied in rectifying fabrication errors in any kind of optical device formed in a planar lightwave circuit.
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