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Although blood sampling is frequently performed, a system to take blood samples automatically has not yet been developed. In the paper, as a first step towards automatic blood sampling, an examination of an automatic method for puncturing blood vessels is described. The force waveforms produced by puncturing rabbit ear veins were measured. A characteristic(More)
We report a case of nemaline myopathy with KLHL40 mutation, presenting as congenital totally locked-in state. At birth, a male patient developed hydrops fetalis, which was diagnosed based on the generalized edema and pleural effusion and could perform no significant spontaneous movements. His eyes were open, without blinking, and the eyeballs were locked in(More)
BACKGROUND Constitutive activation of the PI3K-AKT-mTOR pathway (mTOR pathway) underlies megalencephaly in many patients. Yet, prevalence of the involvement of the PI3K-AKT-mTOR pathway in patients with megalencephaly remains to be elucidated, and molecular diagnosis is challenging. Here, we have successfully established a combination of genetic and(More)
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