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Biomedical subjects

D Younger

Publications and source records attributed to D Younger.

13 recordsLinked to original sources
PubMed1992

Familial amyloidotic polyneuropathy presenting with carpal tunnel syndrome and a new transthyretin mutation, asparagine 70.

We report familial amyloidotic polyneuropathy in a pedigree of German ancestry residing in New Jersey. Eight affected subjects presented in the third to seventh decade with carpal tunnel syndrome (CTS) and one subject presented with vitreous opacification. Transmission was autosomal dominant and survival was prolonged. Affected subjects were heterozygous for a novel mutation in serum transthyretin (TTR), resulting in an asparagine for lysine substitution at residue 70 of the TTR monomer. We report two methods for rapid identification of the mutation based on the polymerase chain reaction. This pedigree further emphasizes the evolving phenotypic and genotypic heterogeneity of the transthyretinopathies. Familial or sporadic CTS or unexplained vitreous opacification suggest the possibility of TTR amyloidosis and should prompt a search for TTR mutations.

Adult↗
PubMed1988

Seronegative myasthenia gravis.

Of 221 patients with myasthenia gravis, 18.5% had no detectable antibodies to acetylcholine receptor. Seven of 14 patients (50%) with only ocular symptoms for more than 2 years were seronegative, and 25 of 145 (17%) patients with generalized myasthenia were seronegative. The clinical characteristics of seronegative patients did not differ from patients with high antibody titers. No seronegative patient had a thymoma, but that difference did not reach statistical significance. Lack of serum antibodies did not preclude favorable response to thymectomy or plasmapheresis.

Adult↗
PubMed1988

Neurologic disorders and aspiration.

Many neurologic disorders impair normal swallowing. In this article, the spectrum of neurologic disease in which aspiration can be a complication is reviewed.

Central Nervous System Diseases↗
PubMed1981

Aspects of the natural history of myasthenia gravis: crisis and death.

In an analysis of myasthenia crises during the past 20 years, the incidence of crisis remained fairly constant at 12-16%, but the fatality rate of crises declined from 42% to 6%, and the overall mortality of myasthenia declined from 12% to 3.3%. Most crisis episodes were caused by aspiration pneumonia or occurred in patients with severe dysphagia, who were at risk of aspiration. Cholinergic drug therapy clearly was not useful during crisis, and should probably be discontinued while the patient is on a respirator. Fifteen of 28 patients with thymectomy had 21 episodes of crisis months or years after surgery. Ultimately, 42% of crisis survivors achieved a state of improved myasthenia or remission after one or more crises.

Adolescent↗