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Biomedical subjects

J Bergin

Publications and source records attributed to J Bergin.

8 recordsLinked to original sources

Sudden cardiac death in heart failure.

Chronic heart failure (HF) and sudden cardiac death (SCD) present two major public health problems. The risk of death ranges from 10% to 50% annually in patients with HF, depending on the severity of disease. Approximately 50% of these deaths are sudden and presumed to be caused by dysrhythmias. This article defines the population at risk for SCD, explains the methods used for risk stratification, reviews current research on the pathophysiology of ventricular dysrhythmias in HF, and discusses pertinent clinical trials of therapeutic interventions on SCD in HF. The article also explores the effect of SCD on the patient and family with respect to counseling and education, resuscitative issues, and advanced directives.

Arrhythmias, Cardiac↗

The immunogenicity of influenza virus vaccine in solid organ transplant recipients.

We monitored the responses of solid organ transplant recipients (SOTs) to influenza vaccine during consecutive influenza seasons. Standard 1993-1994 trivalent influenza vaccine was given to 68 SOTs and 29 healthy young adults, and hemagglutination-inhibition (HI) antibody titers were determined pre- and post-immunization. Significant rises in geometric mean antibody titers occurred post-immunization for all three antigens in both groups. However, the magnitude of the rise was lower in SOTs (1.5-2.3-fold vs. 8.7-10.4-fold, depending on the antigen) (P < .05), and significantly fewer SOTs had protective HI titers (> or = 1:40) for B/Panama/45/90 antigens (50% of SOTs vs. 76% of healthy subjects) and for A/Texas/36/91 (H1N1) antigens (60% vs. 90%). After exclusion of persons with high preimmunization titers, SOTs had significantly reduced frequencies of > or = 4-fold antibody responses compared with those of healthy subjects (23%-38% vs. 86%-100%) (P < .05 for each antigen). When a series of two injections of standard 1994-1995 vaccine was given to 23 SOTs, there was no significant improvement in vaccine response with the second dose. Some SOTs have deficient responses to inactivated influenza vaccines.

Adult↗

Mutational analysis of patients with X-linked adrenoleukodystrophy.

Adrenoleukodystrophy (ALD) is an X-linked neurodegenerative disorder characterized by elevated very long chain fatty acid (VLCFA) levels, reduced activity of peroxisomal VLCFA-CoA ligase, and variable phenotypic expression. A putative gene for ALD was recently identified and surprisingly encodes a protein (ALDP) that belongs to a family of transmembrane transporters regulated or activated by ATP (the ABC proteins). We have examined genomic DNA from ALD probands for mutations in the putative ALD gene. We detected large deletions of the carboxyl-terminal portion of the gene in 4 of 112 probands. Twenty-five of the ALD probands whose ALD genes appeared normal by Southern blot analysis were surveyed for mutations by Single Strand Conformation Polymorphism (SSCP) procedures and DNA sequence analysis. SSCP variants were detected in 22 probands and none in 60 X-chromosomes from normal individuals. Mutations were detected in all of the ALD probands. The mutations were distributed throughout the gene and did not correlate with phenotype. Approximately half were non-recurrent missense mutations of which 64% occurred in CpG dinucleotides. There was a cluster of frameshift mutations in a small region of exon 5, including an identical AG deletion in 7 unrelated probands. These data strongly support the supposition that mutations in the putative ALD gene result in ALD.

ATP Binding Cassette Transporter, Subfamily D, Mem↗