Familial hypercholesterolemia (one form of familial type II hyperlipoproteinemia). A study of its biochemical, genetic and clinical presentation in childhood.
These observations suggest that the contribution of heredity is more important that shared environment in determining the familial pattern of distribution of serum DBH activity.
The regulation of 3-hydroxy-3-methylglutaryl coenzyme-A reductase activity in leucocytes was studied in a family with familial type II hyperlipoproteinaemia (WHO classification).
Impaired thyrotropin responses to thyrotropin-releasing hormone distinguish these patients from most cases of idiopathic or familial deficiency of thyrotropin and growth hormone.
A structural abnormality appears to underlie familial hyperproinsulinemia proinsulin, which impairs its cleavage at the B-chain-C-peptide linkage site.
Recent reports that cimetidine, a blocker of histamine H2 receptors, lowered serum calcium and/or immunoreactive parathyroid hormone (PTH) concentrations in primary or secondary hyperparathyroidism prompted us to administer the drug (300 mg, orally, every 6 h) to two patients with hyperparathyroidism accompanying familial multiple endocrine neoplasia type 1.
We conclude that in these kindreds, HLA linkage does not account for the familial susceptibiltiy to Crohn's disease and that HLA A and B locus antigens are not associated with Crohn's disease.
Transfusion studies in patients with familialantithrombin III (ATIII) deficiency: half-disappearance time of infused ATIII and influence of such infusion on platelet life-span.
In the present study, formalin-fixed paraffin sections of the affected brains were tested immunocytochemically for their reactivity against antiserum to prealbumin (recently disclosed as the major constituent of amyloid associated with familial amyloidotic polyneuropathy as well as senile cardiac amyloid) and known components of other types of amyloid (AA, AP, etc.).
This screening procedure is a new approach to the detection of familial dyslipoproteinemia in the newborn, as it is based on the quantitation of the apo A-I/B protein ratio, instead of cholesterol, LDL cholesterol or beta-lipoprotein quantitation.
This screening procedure is a new approach to the detection of familial dyslipoproteinemia in the newborn, as it is based on the quantitation of the apo A-I/B protein ratio, instead of cholesterol, LDL cholesterol or beta-lipoprotein quantitation.