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Biomedical subjects

H F Falls

Publications and source records attributed to H F Falls.

17 recordsLinked to original sources
PubMed1984

Classification of corneal endothelial disorders based on neural crest origin.

The corneal endothelium is derived from the neural crest. A general classification of disorders of development of the neural crest has been previously presented (Johnston). Disorders of the corneal endothelium may be considered according to a modification of this scheme to reflect its true embryologic origin. In this classification, corneal endothelial disorders are categorized as abnormalities of neural crest cell formation (cyclopia), migration (Peters' anomaly), proliferation (iridocorneal endothelial syndrome), final differentiation (Fuchs' dystrophy), and acquired abnormalities (metaplasia, abiatrophy, and proliferation).

Adult↗
PubMed1984

Small bowel resection with vitamin E deficiency and progressive spinocerebellar syndrome.

A 27-year-old woman who had undergone extensive small bowel resection at age 14 months developed kyphoscoliosis, ocular palsies, constricted visual fields, retinitis pigmentosa, progressive ataxia, muscular weakness, nearly absent vibration and impaired position sense, areflexia, extensor plantar responses, and macrocytic anemia. Her condition closely resembled Bassen-Kornzweig disease, but lipoprotein electrophoresis was normal. Mild fat malabsorption, lactic acidosis, and severe deficiency of vitamins A and E and carotene were documented. Serum B12 and folic acid levels were normal. During vitamin A and E therapy sufficient to elevate serum levels to the normal range, there was improvement of visual fields and visual acuity in dim light, lactic acidosis, and red cell volume. Progression of symptoms was halted during vitamin replacement therapy, and her gait improved. This syndrome is the human counterpart to vitamin E deficiency in experimental animals.

Adult↗
PubMed1977

Familial foveal retinoschisis.

Three young women, offspring of a nonconsanguineous marriage of normal parents, manifested mild visual loss associated with a bilateral foveal dystrophy that resembled the macular involvement in juvenile sex-linked retinoschisis. Electrophysiologic and psychophysiologic tests showed less severe involvement than the gonosomal equivalent. An autosomal recessive inheritance is proposed.

Adolescent↗
PubMed1976

Hypercupremia associated with a monoclonal immunoglobulin.

Although copper is an essential constituent of many physiologic systems, most human diseases effect minimal changes in copper homeostasis. Therefore, the association of marked hypercupremia with copper deposition in the ocular media and with a circulating immunoglobulin G in an apparently healthy woman prompted our interest. Balance and radioisotopic studies suggest a normal gastrointestinal and renal threshold for copper but a specific and tight binding between the serum copper and the anomalous protein, the probable result of a preclinical myeloma. Because the response of the hypercupremia to chelation therapy was limited, the multiple myeloma was treated with cytoxic drugs.

Adult↗
PubMed1975

Ocular manifestations of hypercupremia associated with multiple myeloma.

Extensive copper infiltration of Descemet membrane of the central cornea and of the anterior and posterior surfaces of the lens is associated with marked hypercupremia related to an abnormal immunoglobulin. Observation of this spectrum of ophthalmic changes in an apparently well middle-aged woman heralded the diagnosis of a unique variety of multiple myeloma.

Adult↗