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Biomedical subjects

J J Gallagher

Publications and source records attributed to J J Gallagher.

234 records · Page 13Linked to original sources
PubMedDate not supplied

The preexcitation syndromes.

Current methodology permits one to define the functional basis of the preexcitation syndromes with reasonable certainty and to develop a rationale for instituting trials of medical therapy. Future studies will hopefully result in a more exact definition of the anatomic substrates of preexcitation and their relationship to the pathophysiology of the associated syndromes. New antiarrhythmic agents must also be developed to add to the relatively small number of available drugs. Important questions still remain. Should asymptomatic patients with preexcitation be studied? If found to demonstrate potential for malignant arrhythmias, should they be treated prophylactically? The answers to these questions will require study and long-term follow-up of nonhospital referral patients. Surgery offers a feasible therapeutic alternative for patients with life-threatening or disabling arrhythmias but demands a team equipped to perform precise preoperative and intraoperative mapping studies to define the type and location of underlying anatomic substrates.

Arrhythmias, Cardiac↗
PubMedDate not supplied

Clinical signs of familial hypercholesterolemia in patients with familial defective apolipoprotein B-100 and normal low density lipoprotein receptor function.

In a previous study (Tybjaerg-Hansen et al, Atherosclerosis 1990;80:235-242), we identified nine patients heterozygous for the apolipoprotein B (apo B) arginine-to-glutamine (Arg3,500----Gln) mutation (familial defective apolipoprotein B-100 [FDB]). Six of these had been diagnosed clinically as familial hypercholesterolemic (FH) heterozygotes. We have since examined low density lipoprotein (LDL) receptor function in the FDB index patients and in three of their families. Skin fibroblasts from seven of seven unrelated FDB patients from whom cell lines were established exhibited normal high-affinity binding and degradation of normal LDL in vitro. In the three families, a raised plasma LDL concentration did not segregate with a haplotype of two polymorphic restriction sites at the LDL receptor locus. We conclude that the clinical and biochemical signs of classical FH can occur in the presence of the FDB mutation and a normal LDL receptor gene. In a four-generation family with 11 proven or presumed FDB heterozygotes, expression of the mutation ranged from normal plasma LDL concentrations and no clinical signs in two individuals, to hypercholesterolemia and death from myocardial infarction at age 31. Variable expression of the FDB mutation could not be explained conclusively by variation in diet, body mass index, smoking habit, apo E genotype, or plasma Lp(a) concentration.

Adult↗