[Morphological and functional analysis of dento-orofacial complex in monozygotic twins with Duchenne type muscular dystrophy].

The form of dento-orofacial complex and masticatory muscle function of monozygotic twins with Duchenne type muscular dystrophy were investigated. They had no environmental difference. Morphological analysis were performed on the dental casts and cephalograms.

Quantitative histologic study of the sural nerve in Lesch-Nyhan syndrome.

The sural nerve of a 31-year-old man with Lesch-Nyhan syndrome obtained at autopsy was studied histologically. Large, myelinated nerve fibers were reduced in number and no myelinated nerve fibers larger than 5 microns were seen. Diameter distribution of myelinated nerve fibers did not demonstrate a bimodal pattern.

Adrenoleukodystrophy: abnormality of "tightly bound" fatty acids in the erythrocyte membrane proteins.

"Tightly bound" and "loosely bound" fatty acids in erythrocyte membranes were analyzed in three patients with adrenoleukodystrophy, three probable carriers, and eight controls. The ratios of C28:0 or C26:0 to C22:0 or C20:0 in the tightly bound fatty acids of three patients were significantly higher than those of controls, and the ratios in two of three probable carriers were higher than those in controls. The ratios of C26:0 to C22:0 or C20:0 in the loosely bound fatty acids of three patients and three probable carriers were also significantly higher than those of controls.

[2 autopsy cases of congenital muscular dystrophy of Fukuyama type--a typical and an atypical cases].

Two autopsy cases of congenital muscular dystrophy of Fukuyama type (F-CMD) were described. The first case was diagnosed clinically and pathologically as its typical case. Neither his family history nor the history of his prenatal period were contributory.

Two different modes of enzymatic changes in serum with progression of Duchenne muscular dystrophy.

Nineteen serum enzymes from patients with Duchenne muscular dystrophy and asthma, and normal subjects were studied. These enzymes include aminopeptidases, cathepsin C, angiotensin-converting enzyme, serine proteinase, sulphatase, phosphatase, esterases and ribonuclease. The enzymatic changes in dystrophic patients were related to two parameters: severity of the disease as judged from symptomatology, and duration of the disease.