Maurice Fox

An Association between Neonatal Severe Primary Hyperparathyroidism and Familial Hypocalciuric Hypercalcemia in Three Kindreds

Four cases of neonatal severe primary hyperparathyroidism occurred in three families; familial hypocalciuric hypercalcemia was present in each kindred. The diagnosis of familial hypocalciuric hypercalcemia was based on the following features; hypercalcemia in many relatives (eight to 16 per kindred), without other features of the multiple endocrine neoplasia syndromes; recognition of hypercalcemia before the age of 10 in one to three relatives; hypocalciuric hypercalcemia in all relatives tested (five to 14 per kindred); and abnormal serum calcium levels despite parathyroidectomy in all additional relatives (one to five per kindred) undergoing this operation. The association of two uncommon syndromes (neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia) in these kindreds suggests that the two syndromes share a common genetic cause within each kindred.

Ionic requirements for amino acid transport in the rat kidney cortex slice: I. Influence of extracellular ions

Abstract 1. 1. Active transport of amino acids in rat kidney cortex slices diminished as the Na+ concentration of the medium was decreased below physiologic levels. In Na+-free media, active transport of glycine and α-amino [ i -14C]isobutyric acid was abolished, but active transport of lysine persisted. 2. 2. Lysine transport was found to be mediated by two mechanisms—one Na+ dependent and ouabain sensitive, and the other independent of Na+ and insensitive to ouabain. 3. 3. Maximal transport of amino acids occurred over a narrow range of medium K+ concentrations, falling off at higher and lower K+ levels. 4. 4. Substitution of other ions for Na+ in the medium caused significant alterations of the intracellular and extracellular fluid spaces of the tissues. 5. 5. Replacement of medium Na+ by K+ resulted in tissue swelling and suppression of amino acid transport beyond that caused by the absence of Na+. 6. 6. The common ionic requirements of kidney ATPase systems and of the mechanisms for active transport of certain amino acids suggest that these processes may be intimately related.

Evidence against a Single Renal Transport Defect in Cystinuria

SINCE 1810, when Wollaston1 first described a urinary calculus composed entirely of cystine, the pathogenesis of cystinuria has been the subject of controversy. Most current concepts date from the observations that the urine of these patients contains large amounts of lysine, arginine2 , 3 and ornithine4 as well as cystine, whereas the plasma levels of these amino acids are not elevated.3 , 5 , 6 These findings led Dent and Rose3 to conclude that the gross cystinuria characteristic of this disease was due to defective tubular reabsorption rather than impaired metabolism of cystine. The renal clearances of the 4 di-amino acids were shown to be abnormally .xa0.xa0.

CYSTINURIA: IN VITRO DEMONSTRATION OF AN INTESTINAL TRANSPORT DEFECT.

A defect in the transport of L-cystine and L-lysine has been found in the intestinal mucosa of patients with cystinuria. Transport studies in normal intestinal mucosa, in contrast to similar studies in the kidney, show that cystine and lysine are mutually inhibitory.

Hexose inhibition of amino acid uptake in the rat-kidney-cortex slice

Abstract Glucose, galactose and fructose have been shown to inhibit the intracellular accumulation of amino acids by the rat-kidney-cortex slice. The uptake of glycine, α-amino- [1−14C]isobutyric acid, valine and cycloleucine was inhibited by these hexoses but the accumulation of lysine, histidine and phenylalanine was unaffected. The inhibitory effect has been shown to be dependent upon the length of incubation and upon the sugar concentration. Evidence has been presented to indicate that sugars reduce the rate of influx of amino acid into cells but have no effect upon the apparent affinity of transport sites for amino acids.

The Decision to Perform Cardiopulmonary Resuscitation

Decisions to initiate or forgo life-prolonging procedures, such as cardiopulmonary resuscitation, present profound medical and ethical dilemmas for the physician, nurse, patient, family, and society. The physicians self-image as the advocate and protector of the patient under his or her care is challenged when a decision must be made that may compromise the dignity of the patient and prolong the agony of dying. The decision often represents an amalgam of conflicting forces and values and is not always rationally reached.1 In its analysis of decisions to forgo life-sustaining treatment, the Presidents Commission for the Study of Ethical Problems in Medicine .xa0.xa0.

Effects of High Dietary Calcium and Phosphorus on Calcium, Phosphorus, Nitrogen and Fat Metabolism in Children

effects of high dietary phosphate on dental caries,’0 a group of children became available who presumably had been receiving diets high in calcium and phosphorus for periods of from one to two years. The present report is concerned with the effects of these diets on metabolic balances of minerals and nitrogen in eighteen children from this study. EXPERIMENTAL METHODS

Periodic Fever with Renal Amyloidosis

THE characteristic syndrome of periodic fever, as described by Reimann1 in his review of reported cases in 1953, consists of recurrent abdominal pain, fever and leukocytosis of unknown etiology. The apparent restriction of the disease to people of Mediterranean stock, primarily Sephardic Jews, Armenians, Arabs, Turks and Italians, and its familial occurrence were emphasized by Heller et al.2 in their study of 253 cases. Renal involvement in periodic disease was first reported by Mamou and Cattan.3 Later, Tuqan4 described 2 such cases in which diffuse amyloidosis, involving chiefly the kidneys, spleen and adrenal glands, was found at autopsy. This report .xa0.xa0.