Background: Continuous negative extra-thoracic pressure (CNEP) can prevent children with apnea developing severe respiratory infection with endotracheal intubation. Little is known about children with mild acute respiratory disease, especially with a focus on clinical respiratory symptoms.
Methods: We conducted a prospective, observational study between July 2014 and July 2017 to evaluate the safety of a modified setting of CNEP in hospitalized children with symptoms of chest-wall retraction or nasal alar breathing without the requirement for immediate intubation therapy in a single center.
We report a female patient with late-onset epileptic spasms (ESs) of a rare form, distinct from those seen in typical West syndrome, in association with a heterozygous frameshift CASK mutation (c.1896dupC (p.C633fs(∗)2)).
View Article and Find Full Text PDFGuanidinoacetate methyltransferase (GAMT) deficiency is a rare disorder of creatine synthesis resulting in cerebral creatine depletion. We present a 38-year-old patient, the first Japanese case of GAMT deficiency. Developmental delay started after a few months of age with a marked delay in language, which resulted in severe intellectual deficit.
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