S. Richardson Hill

FATAL MYXEDEMA, WITH AND WITHOUT COMA

Excerpt INTRODUCTION Relatively few cases of terminal myxedema, especially of myxedema coma, have been reported. The first report of fatal hypothermic coma appeared in 1879.1The condition was also ...

Hereditary multiple exostoses, pseudo-pseudohypoparathyroidism and other genetic defects of bone, calcium and phosphorus metabolism.

Abstract 1.1. Observations are reported on four generations of a family, eight members of whom manifested the characteristic features of hereditary multiple exostoses. 2.2. All of the affected subjects had multiple bony exostoses. Two were short-statured, round-faced and had shortened metacarpals, and could have been classified as having pseudo-pseudo-hypoparathyroidism. Two others had shortened metacarpals without other abnormalities. 3.3. The Ellsworth-Howard, phosphate clearance and tubular reabsorption of phosphate tests were performed before and after parathormone administration in one subject and a normal response was obtained. The serum chemical findings were normal in all patients studied. 4.4. The reported cases of pseudo-pseudohypoparathyroidism and the other syndromes which are related to it, or have been likened to it, are reviewed. 5.5. In view of the similarity of pseudo-pseudo-hypoparathyroidism to a spectrum of disorders (Table I) which includes not only idiopathic hypoparathyroidism and pseudohypoparathyroidism, but also myositis ossificans progressiva, familial brachydactyly, epiphyseal dysplasia, Turners syndrome and, as demonstrated by this family, hereditary multiple exostoses, a serious question is raised as to the advisability of classifying pseudo-pseudohypoparathyroidism as a distinct and separate syndrome. A clearer understanding of these disorders might be obtained by considering them to constitute a spectrum of genetically determined bone, calcium and phosphorus disturbances, with or without hypoparathyroidism or abnormal serum calcium and phosphorus levels.

Studies on Several Possible Antiserotonin Compounds in a Patient with the Functioning Carcinoid Syndrome

Excerpt In recent years, clinicians, as well as biochemists, have been intrigued by the synthesis, excretion, and metabolic effects of substances produced by neoplastic tumors, particularly tumors ...

Quantitative chromatographic estimation of urinary C19 and C21 steroids

An extensive methodological study has been undertaken with a view to developing a reproducible procedure which would permit a quantitative estimation of a broad spectrum of C19 and C21 steroids, with minimum chromatography involved. The method described in this paper utilizes one partition column chromatography and seven consecutive paper-chromatographic systems for the simultaneous isolation and the quantitative estimation of 30 urinary steroid metabolites. The technique is relatively simple but reliable and reproducible. Its feasibility is not beyond the capacity of a well-equipped clinical research laboratory, and its sensitivity permits detection and quantitation of compounds normally present in such minute quantities that their isolation hitherto required use of radioisotope techniques.

THE SUCCESSFUL MANAGEMENT OF HEPATOLENTICULAR DEGENERATION WITH PENICILLAMINE: STUDIES ON THREE GENERATIONS OF A FAMILY

Excerpt INTRODUCTION Hepatolenticular degeneration (HLD, Wilsons disease)1is associated with abnormal deposition of copper in the brain, liver, kidneys, and other body tissues,2apparently due to a...