Management of Port Occlusions in Adults: Different-Site Replacement versus Same-Site Salvage.

PURPOSE: To compare the safety and effectiveness of different-site port placement versus same-site port salvage in adult patients with occluded ports. MATERIALS AND METHODS: Ninety-five occluded subcutaneous infusion ports (ports) in 95 patients presenting between July 1, 2002, and June 30, 2017, were retrospectively reviewed: 48 (51%) different-site placements (replacements; same-day indwelling port removal and different-site new port placement) and 47 (49%) same-site salvages (salvages; 35 fibrin sheath strippings, 12 over-the-wire exchanges). Demographic information, indication for initial placement and replacement or salvage, procedural details, post-intervention primary catheter patency, and post-intervention port sequelae were recorded. Post-intervention primary catheter patency, and malfunction and infection rates were compared with Kaplan-Meier estimation and the log-rank test, and Fisher exact test, respectively. The association of patient risk factors and port patency was assessed with Cox regression. RESULTS: Median primary catheter patency after replacement was 254 days (interquartile range [IQR], 297) and after salvage was 391 days (IQR, 906) (P = .25). Within the salvage group, median primary catheter patency after stripping was 391 days (IQR, 658) and after exchange was 666 days (IQR, 1412) (P = .08). There was no statistical difference in malfunction (P = .12) and infection (P = .74) rates between the replaced and salvaged groups or in malfunction (P = .09) and infection (P = .1) rates between the exchanged and stripped subgroups. None of the patient or catheter characteristics assessed were significantly associated with primary catheter patency. CONCLUSIONS: There was no statistical difference between patency, malfunctions, or infections after replacement and salvage, or after stripping and exchange, so technique selection should be based on the patient's estimated lifetime venous access requirements, cost, and physician preference.

Knowledge and Attitudes in Alzheimer's Disease in a Cohort of Older African Americans and Caucasians.

African American participation in Alzheimer's disease (AD) research studies has been historically low. To determine whether older African Americans and Caucasians had different knowledge or attitudes related to AD, we administered the Alzheimer's Disease Knowledge Scale (ADKS) to 67 older African Americans and 140 older caucasians in the greater Atlanta area as well as questions targeting locus of control over general health and AD risks. Older African Americans scored slightly lower on ADKS than older caucasians, with race only accounting for 1.57 (95% confidence interval [CI] 0.57-2.61, P < .001) points of difference in a multivariate model. Attitudes toward AD were also similar between the 2 groups but 1 (35.7%) in 3 adults reported control over general health but not AD risks. In addition to enhancing education content in outreach efforts, there is an urgent need to address the perception that future AD risks are beyond one's own internal control.

Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation.

BACKGROUND: The clinical significance of variants in genes associated with inherited cardiomyopathies can be difficult to determine because of uncertainty regarding population genetic variation and a surprising amount of tolerance of the genome even to loss-of-function variants. We hypothesized that genes associated with cardiomyopathy might be particularly resistant to the accumulation of genetic variation. METHODS AND RESULTS: We analyzed the rates of single nucleotide genetic variation in all known genes from the exomes of >5000 individuals from the National Heart, Lung, and Blood Institute's Exome Sequencing Project, as well as the rates of structural variation from the Database of Genomic Variants. Most variants were rare, with over half unique to 1 individual. Cardiomyopathy-associated genes exhibited a rate of nonsense variants, about 96.1% lower than other Mendelian disease genes. We tested the ability of in silico algorithms to distinguish between a set of variants in MYBPC3, MYH7, and TNNT2 with strong evidence for pathogenicity and variants from the Exome Sequencing Project data. Algorithms based on conservation at the nucleotide level (genomic evolutionary rate profiling, PhastCons) did not perform as well as amino acid-level prediction algorithms (Polyphen-2, SIFT). Variants with strong evidence for disease causality were found in the Exome Sequencing Project data at prevalence higher than expected. CONCLUSIONS: Genes associated with cardiomyopathy carry very low rates of population variation. The existence in population data of variants with strong evidence for pathogenicity suggests that even for Mendelian disease genetics, a probabilistic weighting of multiple variants may be preferred over the single gene causality model.