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Biomedical subjects

L Yoshinaga

Publications and source records attributed to L Yoshinaga.

7 recordsLinked to original sources
PubMed1994

Fibrodysplasia ossificans progressiva.

Fibrodysplasia (myositis) ossificans progressiva (FOP) is a rare autosomal dominant disorder in which there is a progressive ectopic ossification and skeletal malformation, mainly in the connective tissue of muscle. The diagnosis is based on the clinical findings and radiological demonstration of the skeletal malformations. We report a 5 year-old female case with FOP.

Child, Preschool↗
PubMed1994

Familial dysautonomia (Riley-Day syndrome).

Familial dysautonomia, also known as Riley-Day syndrome, is a disorder of autonomic nervous system with an autosomal recessive mode of inheritance. Reduction and/or loss of unmyelinated and small myelinated fibers is found, as reduction of dopamine beta-hydroxylase in blood. The diagnosis is based on clinical features: diminished lacrimation, insensitivity to pain, poor temperature control, abolished deep tendon reflexes, postural hypotension, vomiting attacks, poor motor coordination, and mental retardation. The treatment is symptomatic and many children die during the first years of life, usually as a result of repeated aspiration pneumonia. We report the case of a 1 year-old child with familial dysautonomia.

Dopamine beta-Hydroxylase↗
PubMed1993

[West syndrome: apropos of 9 cases].

West syndrome is a peculiar form of epilepsy of infancy and childhood characterized by spasms or massive myoclonus, regression neuropsychomotor development, and EEG abnormalities referred as hipsarrhythmia. We report nine cases of West syndrome discussing clinical, etiological, evolutive and therapeutic features.

Age Factors↗