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Biomedical subjects

H Fukunaga

Publications and source records attributed to H Fukunaga.

101 records · Page 6Linked to original sources
PubMed1979

Fractures in patients with myopathies.

During the past 4 years, 15 fractures in 10 patients were encountered among 48 hospitalized patients with myopathies. The dominant sites were the femur (supracondylar) and humerus (subcapital). By assessing the total body potassium volume, bone mineral content, serum calcium, inorganic phosphorus, 25-OH vitamin D3, parathyroid hormone, and calcitonin, it is concluded that the proclivity to fracture in myopathic patients is caused by bone atrophy due to a lack of muscle tension related to decrease in muscle volume.

Adolescent↗
PubMedDate not supplied

Phenotypic Duchenne muscular dystrophy with C-terminal domain.

We report a patient with X-linked muscular dystrophy who had rapidly progressive muscle weakness and became wheelchair-bound at age 10 years. Clinically, he was diagnosed as having Duchenne muscular dystrophy; however, he was diagnosed as having Becker muscular dystrophy by dystrophin tests using a C-terminal monoclonal antibody. No immunolabelling was observed with a monoclonal antibody against the N-terminal domain. Multiplex polymerase chain reaction analysis revealed the deletion of exons 3-19. The data suggest that the deletion of the N-terminal domain of dystrophin can cause a severe phenotype even when the C-terminus of the protein is well preserved.

Adolescent↗
PubMedDate not supplied

Familial facioscapulohumeral muscular dystrophy: phenotypic diversity and genetic abnormality.

We report two cases showing facioscapulohumeral muscular dystrophy (FSHD) with phenotypic diversity but the same genetic abnormality detected by a p13E-11 probe. The proband, a 26-year-old woman, showed an early onset, tortuosity of retinal arterioles and respiratory failure. The 53-year-old mother of the proband had limb-girdle (L-G) type muscular weakness with very mild facial involvement. Muscle biopsy showed perivascular cell infiltration in both patients. These cases suggest that the phenotypic diversity ranges from L-G type weakness to severe respiratory failure in FSHD family.

Adult↗