Brain & development
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Brain & development · Feb 2016
Case ReportsClinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy.
LAMA2-related muscular dystrophy (LAMA2 MD) is an autosomal recessive inherited disease caused by LAMA2 gene mutation. The spectrum of the phenotype is expanding in recent years partially due to the definitive diagnosis of molecular genetics. We investigated the phenotype and genotype in a LAMA2 MD family manifesting as limb-girdle muscular dystrophy (LGMD). ⋯ We investigated the phenotype and genotype in a family manifesting as limb-girdle muscular dystrophy (LGMD). This LAMA2 MD family manifesting as LGMD was identified in molecular genetic level and their phenotypes was described.
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Brain & development · Jan 2016
ReviewSpectrum of migraine variants and beyond: The individual syndromes in children.
"Migraine-related conditions" are probably the second most common condition after seizure encountered in pediatric neurology requiring frequent Emergency Department visits. Among migraines, migraine-related condition presents with an acute onset sign or symptom other than headache or visual aura of unknown etiology. ⋯ Previously, the authors proposed a common clinical profile and suggested that the future review should seek the applicability of the common profile in aid to clinical diagnosis of migraine-related individual syndromes. Authors describe the clinical characteristics and differential diagnosis of the spectrum of migraine variants and beyond in children.
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Brain & development · Nov 2015
Simultaneous measurement of cerebral hemoglobin oxygen saturation and blood volume in asphyxiated neonates by near-infrared time-resolved spectroscopy.
Hypoxic-ischemic encephalopathy (HIE) usually results in a poor clinical outcome even when treated with hypothermic therapy (HT). Early postnatal changes in cerebral blood oxygenation and hemodynamics may be critical determinants of brain injury and the efficacy of HT. ⋯ Early postnatal CBV and ScO2 elevations were predictive of a poor outcome in HIE. Therefore, measuring combined CBV plus ScO2 at 24h after birth can allow more precise prediction of neurological outcome. Control of postnatal CBV and ScO2 is critical for effective HIE treatment.
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Brain & development · Oct 2015
Clinical features and long-term outcome of a group of Japanese children with inflammatory central nervous system disorders and seropositivity to myelin-oligodendrocyte glycoprotein antibodies.
Myelin-oligodendrocyte glycoprotein and aquaporin-4 have been extensively analyzed as targets for humoral immune reactions in central nervous system (CNS) demyelinating diseases, and the results indicated a possible role of these antibodies in the pathogenesis of various demyelinating diseases. ⋯ This preliminary report showed that anti-myelin-oligodendrocyte glycoprotein antibodies testing at onset could be a useful tool predicting clinical outcome of children with ADEM, ON, and MS.
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Brain & development · May 2015
Trend figures assist with untrained emergency electroencephalogram interpretation.
Acute electroencephalogram (EEG) findings are important for diagnosing emergency patients with suspected neurological disorders, but they can be difficult for untrained medical staff to interpret. In this research, we will develop an emergency EEG trend figure that we hypothesize will be more easily understood by untrained staff compared with the raw original traces. ⋯ EEG trend figures improved the accuracy with which untrained medical staff interpreted emergency EEGs. Emergency EEG figures that can be understood intuitively with minimal training might improve the accuracy of emergency EEG interpretation. However, additional studies are required to confirm these results because there may be many types of clinical EEGs that are difficult to interpret.