[The effect of noninvasive positive pressure ventilation in children with severe motor and intellectual disabilities with respiratory insufficiency].

We investigated the clinical course of 20 children (persons) with severe motor and intellectual disabilities (SMID) who were treated with noninvasive positive pressure ventilation (NPPV) for respiratory insufficiency. NPPV was effective in 10 of 11 patients treated for acute respiratory failure, and in 7 of 9 patients treated for chronic respiratory failure. Twelve patients were treated with NPPV for more than one year.

Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.

MRE11 and NBS1 function together as components of a MRE11/RAD50/NBS1 protein complex, however deficiency of either protein does not result in the same clinical features. Mutations in the NBN gene underlie Nijmegen breakage syndrome (NBS), a chromosomal instability syndrome characterized by microcephaly, bird-like faces, growth and mental retardation, and cellular radiosensitivity. Additionally, mutations in the MRE11A gene are known to lead to an ataxia-telangiectasia-like disorder (ATLD), a late-onset, slowly progressive variant of ataxia-telangiectasia without microcephaly.

Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.

Charcot-Marie-Tooth disease (CMT) has been classified into two types, CMT1 and CMT2, demyelinating and axonal forms, respectively. CMT2 has been further subdivided into eight groups by linkage studies. CMT2A is linked to chromosome 1p35-p36 and mutation in the kinesin family member 1B-beta (KIF1B) gene had been reported in one pedigree.

Potentially harmful sleep habits of 3-year-old children in Japan.

To examine the sleep habits of 3-year-old children, we questioned guardians during a routine health examination for 3-year-old children at a public health center. According to the 1105 questionnaires analyzed, the proportion of children who fell asleep at 10 p.m.