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Biomedical subjects

R Eldridge

Publications and source records attributed to R Eldridge.

At least 91 records · Page 5Linked to original sources
PubMed1976

Von Hippel-Lindau disease: clinical and pathological manifestations in nine families with 50 affected members.

Fifty individuals in nine families had von Hippel-Lindau disease. Nearly all of the morbidity and mortality of the entity is associated with six of its manifestations, each of which can be successfully treated. Retinal angiomatosis, which occurs in more than half of those affected, can produce blindness if not treated. Cerebellar hemangioblastoma, which is observed in one third of patients, is the most common source of initial symptoms and caused more than half of the deaths in the series. Medullary and spinal hemangioblastomas occur infrequently. Pheochromocytoma is common in certain families and is usually bilateral. Renal cell carcinoma, which generally arises at a later age, may befall the patient who is successfully treated for the tumors that occurred earlier. However, this tumor can be treated also, if there is early detection.

Adenocarcinoma↗
PubMed1976

Familial motor neuron disease. Evidence for at least three different types.

Based on a clinical, pathologic, and genetic study of 14 families, at least three types of familial motor neuron disease can be distinguished, all apparently of autosomal dominant transmission. The first is characterized by rapid, progressive loss of motor function with predominantly lower motor neuron manifestations and a course lasting less than 5 years. Pathologic changes are limited to the anterior horn cells and pyramidal tracts. The second type is clinically identical to the first, but at autopsy additional changes are found in the posterior columns, Clarke's column, and spinocerebellar tracts. The third type is characterized by a much longer survival usually beyond 10 and after more than 20 years in affected family members but is otherwise similar to the second type.

Female↗
PubMed1975

Attitudes of patients and their relatives to Huntington's disease.

Reaction to medical, social, and genetic implications of Huntington's disease was evaluated by means of a questionnaire mailed to members of a lay organization concerned with this disease in the United States. One thousand and sixty-five of the approximately 2600 members chose to respond. Patients and those at high risk found physical disabilities most disturbing while mental deterioration and personality change were the most disturbing to spouses of patients. The best source of information regarding the disease for 46% was the lay organization itself. Medical specialists or genetic counsellors were cited as the best source of information by 18%. The transmission risk in Huntington's disease was correctly stated to be one-half by 92% of all respondents including 94% of those who indicated the lay organization as best source and 91% of those who indicated medical specialists and genetic ounsellors as best source. If at risk for Huntington's disease, 86% of respondents would modify their family size; desire for limitation was greatest among those affected but lowest among young adults at high risk. If a screening test were available, 23% at high risk might refuse it.

Adolescent↗
PubMed1971

Hereditary bilateral acoustic neuroma (central neurofibromatosis).

Fifty-five members of a kindred have bilateral acoustic neuroma. The trait is autosomal dominant with high penetrance. Onset is about age 20; survival varies from two to 42 years. In screening members, vestibular abnormalities are most consistently observed, but complete audiometric studies and brain scan are important, because no single study is diagnostically sufficient in all cases. Peripheral signs suggesting neurofibromatosis are rare, but other CNS tumors, often asymptomatic, are common suggesting this trait may represent a "central" form of neurofibromatosis.

Adolescent↗