Survey of community-based programs serving U.S. families with Huntington's disease: perceived barriers and facilitators in the residential placement process.

This article describes the contours of the residential care placement experience for social service staff health care providers, and their client families of patients with Huntington's disease. The purpose of this study was to determine the factors, conditions, and barriers encountered by outpatient clinical staff and families in the transition to skilled nursing care. A Long-Term Care Contact Survey was developed to (a) gather information about long-term care referral sites; (b) determine the factors considered in choosing a facility; (c) describe the factors that hindered the transition to long-term care; (d) describe conditions prior to institutionalization; and (e) determine research interest. The study found that large cohorts of patients with Huntington's disease in residential care are scarce. A lack of confidence in the available options suggests the need for increased support for educational and social services to facility staff Speech/swallowing therapy and physical therapy as placement facilitators reflect salient issues of latter stages of the disease, implicating funding support needs. Families facing this transition require long-term guidance for financiail, caregiving, and psychosocial issues.

Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study.

BACKGROUND: Age at onset of Huntington's disease (HD) is correlated with the size of the abnormal CAG repeat expansion in the HD gene; however, several studies have indicated that other genetic factors also contribute to the variability in HD age at onset. To identify modifier genes, we recently reported a whole-genome scan in a sample of 629 affected sibling pairs from 295 pedigrees, in which six genomic regions provided suggestive evidence for quantitative trait loci (QTL), modifying age at onset in HD. METHODS: In order to test the replication of this finding, eighteen microsatellite markers, three from each of the six genomic regions, were genotyped in 102 newly recruited sibling pairs from 69 pedigrees, and data were analyzed, using a multipoint linkage variance component method, in the follow-up sample and the combined sample of 352 pedigrees with 753 sibling pairs. RESULTS: Suggestive evidence for linkage at 6q23-24 in the follow-up sample (LOD = 1.87, p = 0.002) increased to genome-wide significance for linkage in the combined sample (LOD = 4.05, p = 0.00001), while suggestive evidence for linkage was observed at 18q22, in both the follow-up sample (LOD = 0.79, p = 0.03) and the combined sample (LOD = 1.78, p = 0.002). Epistatic analysis indicated that there is no interaction between 6q23-24 and other loci. CONCLUSION: In this replication study, linkage for modifier of age at onset in HD was confirmed at 6q23-24. Evidence for linkage was also found at 18q22. The demonstration of statistically significant linkage to a potential modifier locus opens the path to location cloning of a gene capable of altering HD pathogenesis, which could provide a validated target for therapeutic development in the human patient.

Prevalence of anemia in skilled-nursing home residents.

Anemia is a frequent problem among older persons, the prevalence of which may be particularly high in skilled-nursing facilities but recent data in this regard is lacking. The purpose of this study was to define the prevalence of anemia and its association with hospitalization in skilled-nursing home residents. We retrospectively reviewed randomly selected charts among five skilled-nursing facilities within the National Geriatrics Research Consortium (NGRC). Among 900 chronically residing patients with completed chart information, the mean and median ages were 79 years and 82 years, respectively. Eighty-seven percent of patients were 65 years or greater. Applying the World Health Organization criteria for anemia (hemoglobin <12 g/dl for women and hemoglobin <13 g/dl for men), we found a 6-month point prevalence of 48%. The hospitalization rate was higher among those with more severe anemia. Few residents were treated with recombinant erythropoietin therapy or red blood cell transfusion. Anemia is very common in the nursing home, and despite being associated with increased morbidity; it is, for the most part, untreated in this setting. With an increased understanding of erythropoiesis and the availability of recombinant growth factors, future studies should evaluate the causes and potential benefits of treatment in terms of quality of life, reduced morbidity and health economics.

Adenovirus type 7 genomic-type variant, New York City, 1999.

An outbreak of respiratory illness occurred in a long-term care facility in New York City. Investigation of the outbreak identified confirmed or suspected adenoviral infection in 84% of the residents from October 19 to December 18, 1999. Further identification by type-specific neutralization and restriction analysis identified a new genomic variant of adenovirus type 7.

Mechanisms of unexplained anemia in the nursing home.

OBJECTIVES: To characterize anemia in elderly nursing home residents. DESIGN: Prospective multiinstitutional cohort study. SETTING: Five nursing homes. PARTICIPANTS: From retrospective analysis, residents found to be anemic using chart review were prospectively randomized. Of the 81 residents enrolled, 60 were anemic. MEASUREMENTS: Chart review for medical history and factors related to treatment or history of anemia, extensive laboratory evaluation for causes of anemia, and classification of anemia by two hematologists. RESULTS: Among the 60 anemic residents, the causes of anemia were idiopathic (n=27), iron-deficiency (n=14), anemia associated with chronic disease (n=8), anemia of renal insufficiency (n=6), and other (n=5). The eryrthropoietin (EPO) response to anemia was lower in residents with idiopathic anemia (IA) than in those with iron-deficiency anemia, and this correlated with renal function as estimated using calculated creatinine clearance. In this elderly population, advancing age was not correlated with lower EPO response. CONCLUSION: IA is common in nursing home residents. A lower EPO response contributes to the high prevalence of anemia in this setting and may be due, in part, to occult renal dysfunction.