Lymphocyte and Granulocyte Enzyme Activity in Patients with Down's Syndrome

Patients with trisomic Down’s syndrome were found to have significantincreases of acid phosphatase, alkaline phosphatase, and glucose-6-phosphatedehydrogenase in both lymphocytes and polymorphonuclear leukocytes separated from white blood cells by the procedure of Rabinowitz. The alterationin enzyme activities appears not to be directly related to genes located on thechromosome causing Down’s syndrome.

Submitted on March 2, 1967 Accepted on April 13, 1967     

Effects of Erythroid Hyperplasia on Patterns of Glycin-2-C14 Uptake in Heme and Globin of Human Peripheral Blood in Vivo

The rate of appearance of C¹⁴ in the heme and globin of peripheral bloodfollowing intravenous administration of glycine-2-C14 has been measured innormals and in patients with androgen-induced erythrocytosis, polycythemiavera (iron deficiency) and virilizing Cushing’s disease with polycythemia. Inall these cases of accelerated erythropoiesis a common alteration of the globinspecific activity curve was observed. Heme specific activity curves were notaffected.

The changes in the globin specific activity curves are best explained byconsideration of the marrow erythroid cellularity during erythrocytosis.

Submitted on August 6, 1965 Accepted on January 31, 1966     

AUTOANTIBODIES IN HEALTHY SUBJECTS

The laboratory diagnosis of autoimmune disease depends mainly on the demonstration of autoantibodies. We determined the prevalence in an apparently healthy Australian population of the following autoantibodies : anti-nuclear antibody, rheumatoid factor, smooth muscle antibody, anti-mitochondrial and anti-microsomal antibody, and antibody to adrenal, thyroid and gastric cells. The percentage of females with one or more autoantibodies was greater than that of males throughout life, and the prevalence of autoantibodies increased with age in both sexes: over the age of 60 years more than 50% of subjects had one or more autoantibodies. It is essential in autoimmune serological studies to include “controls” precisely matched for age and sex to interpret the significance of autoantibodies in any given disease. Ageing is coincidental with, and could even be in part due to, an increasing incidence of subclinical autoimmune reactions in elderly persons.     

Cardiac Activation During External Cardiac Pacing

To determine which cardiac chambers are stimulated during external cardiac pacing we performed external pacing in eight normal volunteers while recording the esophageol electrogram. All subjects demonstrated evidence of pacing, which was ventricular in each case. The atrium was frequently activated retrogradely during pacing. We conclude that external cardiac pacing selectively stimulates the ventricle and is thus not of value for noninvasive atrial pacing studies.     

Gastric Function in Hypopituitarism

The specific trophic effects of gastrointestinal hormones on gastric function are now recognized. In addition, pituitary, thyroid and adrenal hormones play an important role in maintaining over all gastric function. The majority of studies regarding hormonal effects on the stomach, however, have been carried out only in experimental animals. This paper reports a patient with gastric atrophy and hypopituitarism. Following therapy of the hypopituitarism with cortisone acetate, sodium levothyroxine and testosterone, the following observations were made: serum gastrin increased 137%; mucosal DNA synthesis and content and gastric acid secretion all increased. These data indicate in this one patient the role of these hormones in gastric function.     

Colovenous Fistula Complicating Diverticulitis

Colonic diverticulitis is frequently complicated by bowel obstruction, abscess, perforation and fistula formation. We report a unique case of colonic diverticulitis complicated by colovenous fistulization with Gastrografin^® enema examination demonstrating thrombus in the inferior mesenteric vein.     

Inhibitor Test for Amylase Isoenzymes

The percentage of pancreatic-type isoamylase activity and the ratio of pancreatic to salivary-type isoamylase activity were determined in five control and 35 hyperamylasemic serum samples by means of an established simplified chromatographic method and a recently described inhibitor test. There was good correlation in the results, except at very high and at very low levels of P-type isoamylase activity. At these extremes, the inhibitor method yields imprecise quantitative results. The inhibitor test findings may also prompt misleading conclusions when elevated serum amylase activity is due to undetected macroamylasemia.     

Pharmacokinetic–pharmacodynamic modeling of the hypotensive effect of remifentanil in infants undergoing cranioplasty

Objectives:  Although remifentanil has been used to induce hypotension during surgery in infants, no pharmacokinetic–pharmacodynamic (PKPD) model exists for its quantitative analysis. Our aim was to determine the quantitative relationship between whole blood remifentanil concentration and its hypotensive effect during surgery in infants.
Methods/materials:  We studied seven infants (age 0.3–1 year) who underwent cranioplasty surgery and received remifentanil delivered by a computer-controlled infusion pump during the maintenance of anesthesia. Arterial blood samples to determine remifentanil concentration and mean arterial blood pressure (MAP) measurements were collected. A simultaneous PKPD mixed-effects model was built in NONMEM.
Results:  A total of 77 remifentanil concentrations and 185 MAP measurements were collected. Remifentanil pharmacokinetics was described with a two-compartment model, parameter estimates were 2.99 l·min⁻¹·70 kg⁻¹ for clearance and 16.23 l·70 kg⁻¹ for steady state volume of distribution. Mean baseline MAP was 69.7 mmHg and was decreased as per clinical requirements. A sigmoidal E _max model driven by an effect compartment described the decrease in MAP, with an estimated concentration to decrease MAP by half (EC₅₀) being 17.1 ng·ml⁻¹.
Conclusions:  Remifentanil is effective in causing hypotension. The final model predicts that a steady state remifentanil concentration of 14 ng·ml⁻¹ would typically achieve a 30% decrease in MAP.     

AEC Syndrome Caused by a Novel p63 Mutation and Demonstrating Erythroderma Followed by Extensive Depigmentation

Abstract:  We present an infant with AEC syndrome due to a novel TP63 mutation (F552S), who demonstrated neonatal erythroderma followed by extensive depigmentation. We are unaware of previous reports highlighting the extensive depigmentation present in our patient.