[A case of pacemaker implantation for complete atrioventricular block associated with Duchenne muscular dystrophy].

We report here a case of Duchenne muscular dystrophy (DMD) who underwent pacemaker implantation for complete atrioventricular block. This 30 year-old male had the deletion of exon 45-52 in the dystrophin gene and complained of palpitation and precordial oppression. Because his electrocardiogram showed complete atrioventricular block, a permanent pacemaker was implanted.

[Prevalence of serum anti-Helicobacter pylori IgG antibody in persons with severe motor and intellectual disabilities--comparison between institutionalized persons and persons living at home].

The seroprevalence of an anti-Helicobacter pylori antibody (ELISA) was investigated in institutionalized persons with severe motor and intellectual disabilities (SMID). The rate of seropositivity was significantly higher in persons with SMID under 29 years of age than in age-matched controls and in institutionalized patients with muscular dystrophy. No difference in seropositivity among SMID patients was found between those in our and other institutions.

[Identification of impaired cholesterol biosynthesis in a Japanese patient of Smith-Lemli-Opitz syndrome].

We reported the decreased level of cholesterol as well as the elevated levels of 7- and 8-dehydrocholesterol in the serum and erythrocytes of a Japanese patient with Smith-Lemli-Opitz syndrome. These findings suggested that the detection of these precursors of cholesterol synthesis should become an important biochemical parameter for this syndrome in which clinical features are not always obvious.

[Abnormal metabolism of fatty acids and ketone bodies in Duchenne muscular dystrophy, and the effect of biotin on these abnormalities].

It has been reported that serum levels of ketone bodies often elevate in patients with Duchenne muscular dystrophy (DMD). The cause of this abnormal metabolism, however, has not been elucidated. In this study, serum levels of ketone bodies were measured in the early morning in patients with DMD, congenital muscular dystrophy and cerebral palsy.

[Increased gamma delta T cells in peripheral blood of patients with severe neurologic impairment].

We examined peripheral gamma delta T cells in patients with severe neurologic impairment. The gamma delta T cells in these patients significantly increased as compared with those in healthy adults (P < 0.0001).