PubMed Health⌕ Search

Biomedical subjects

Atsushi Uchiyama

Publications and source records attributed to Atsushi Uchiyama.

8 recordsLinked to original sources
PubMed2006

Distal myopathy with rimmed vacuoles in a case of opercular syndrome.

We report the case of a 30-year-old man with opercular syndrome who developed distal myopathy with rimmed vacuoles (DMRV). Muscle biopsy showed variation in fiber size and scattered fibers with rimmed vacuoles. The identification of a homozygous c. 1714G>C (p. V572L) mutation in the GNE gene genetically confirmed the diagnosis of DMRV, which is thought to be identical to hereditary inclusion body myopathy (HIBM). Our results indicate the possibility that other organs such as the central nervous system could be affected in DMRV/HIBM, although bilateral opercular lesions might have been caused by destructive events either in utero or in the perinatal period.

Adult↗
PubMed2002

Identification and characterization of temperature-sensitive mild mutations in three Japanese patients with nonsevere forms of very-long-chain acyl-CoA dehydrogenase deficiency.

Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is clinically classified into severe, intermediate, and myopathic forms. We identified mutations in three unrelated Japanese patients with VLCAD deficiency: two with the myopathic form and one with the intermediate form, all compound heterozygotes of K264E/M437V, A416T/1798delA, and P89S/IVS16-3delAA, respectively. We characterized four missense mutations, K264E, M437V, A416T, and P89S, by transisent expression analysis, using SV40-transformed fibroblasts derived from a VLCAD-null patient, as recipient cells. In transient expression of the wild-type VLCAD cDNA, VLCAD activity at 30 degrees C was higher than at 37 degrees C. Moreover, this temperature-sensitive character is more evident in all the mutant proteins tested than in wild type. Based on characterization of the five missense mutations identified in four Japanese patients, including data on one patient with the myopathic form previously reported, patients with the nonsevere forms (intermediate or myopathic forms) have missense mutations with residual activities in at least one allele. Expression analysis at 30 degrees C may be more useful for evaluating these missense mutations, compared with that at 37 degrees C.

Acyl-CoA Dehydrogenase, Long-Chain↗
PubMedDate not supplied

[XYY male with total anomalous pulmonary venous return and short stature].

OBJECTIVE: To report a case of a 47 XYY male neonate with congenital heart disease and short stature. DESCRIPTION: This is the first case report of a 47 XYY male neonate associated with congenital heart disease (total anomalous pulmonary venous return) and small for date. The boy neonate was born at around 32 weeks of gestation with birthweight of 1134 g. An intracranial hemorrhage and pulmonary high flow were discovered at an early neonatal period. His physical and mental development was very retarded. The infant underwent a palliative ligation of ductus arteriosus and a ventriculoperitoneal shunt operation, but subsequently died due to consequent heart failure at 19 month-old. COMMENTS: This combination of XYY male and congenital heart disease may be a fortuitous one. However, we think it is important to report that there was a poor prognosis case of XYY male with congenital heart disease and short-stature.

Abnormalities, Multiple↗