Mapping of α- and β-globin genes on Antarctic fish chromosomes by fluorescence in-situ hybridization

The pathways and mechanisms of genomic change that have led to the peculiar haemoglobinless phenotype of the white-blooded Antarctic icefishes (16 species in the family Channichthyidae) constitute an important model for understanding the rapid diversification of the Antarctic notothenioid fish flock. To provide complementary structural information on genomic change at globin-gene loci in Antarctic fish species, cytogenetic studies and in-situ chromosomal mapping have been undertaken. Using a DNA probe containing one α- and one β-globin gene from the embryonic/juvenile globin gene cluster of the red-blooded species Notothenia coriiceps, we mapped the cluster on the chromosomes of Antarctic teleosts by fluorescence in-situ hybridization. As anticipated on the basis of its molecular organization, the cluster was located on a single chromosome pair in all of the red-blooded fish species probed (N. coriiceps, N. angustata, Trematomus hansoni, T. pennellii). In contrast, the α/β-globin probe did not recognize complementary sequences on the chromosomes of the white-blooded species Chionodraco hamatus and Channichthys rhinoceratus. These results represent the first example of chromosomal mapping of embryonic/juvenile globin genes in teleostean fishes. Beyond its relevance to the evolutionary history of Antarctic notothenioids, this work contributes to our understanding of the evolution of the chromosomal loci of globin genes in fishes and other vertebrates. This revised version was published online in July 2006 with corrections to the Cover Date.     

Hand hygiene and glove use behavior in an Italian hospital.

In an Italian hospital, we observed that hand hygiene was performed in 638 (19.6%) of 3,253 opportunities, whereas gloves were worn in 538 (44.2%) 1,218 of opportunities. We observed an inverse correlation between the intensity of care and the rate of hand hygiene compliance (R2=0.057; P<.001), but no such association was observed for the rate of glove use compliance (R2=0.014; P=.078). Rates of compliance with hand hygiene and glove use recommendations follow different behavioral patterns.     

Does Quality Improvement Work? Evaluation of the Organ Donation Breakthrough Collaborative

Objective. The Organ Donation Breakthrough Collaborative is a quality improvement initiative to encourage adoption of "best practices" for identifying potential donors and obtaining consent for deceased organ donation. We evaluate the impact of the first phase on organ donation rates.
Setting. We study donation rates in the 95 hospitals that participated in the first phase and a control group of 125 hospitals.
Design. We use a controlled pre/post design. The preperiod is the year before the start of the Collaborative (September 2002 to August 2003), the postperiod is the final 6 months of the first phase (March 2004 to August 2004).
Data. We use administrative data from the Organ Procurement and Transplantation Network to compute the conversion rate in each hospital group and time period. The conversion rate is the proportion of eligible donors who became actual donors.
Principal Findings. Preperiod conversion rates in Collaborative and control hospitals were similar: 52 and 51 percent, respectively. In the postperiod, the conversion rate increased to 60 percent among Collaborative hospitals and remained at 51 percent among control hospitals. The relative change was 8 percentage points (95 percent confidence interval: 2–13: p <.001).
Conclusions. Our findings suggest that the Breakthrough Collaborative led to an increase in donation rates at participating hospitals.     

Advanced practice nurses in emergency care settings: A demographic profile.

INTRODUCTION: Very little is known about clinical nurse specialists and nurse practitioners (advance practice nurses [APNs]) who practice in emergency care settings. The Advanced Practice Committee of the ENA sought to determine a profile of these individuals. METHODS: Surveys were distributed to all registrants at 2 ENA conferences and posted on the ENA Web site. This survey asked 17 questions concerning the demographic characteristics of the APN respondents (eg, education, experience, certification, state recognition, and practice area). The survey was completed by 166 APNs. RESULTS: APNs had considerable experience as ED registered nurses before becoming an APN. They obtained their APN education at the master's degree or post-master's degree level. State recognition was required for 89.2% of the APNs. The majority of APNs (61.4%) obtained their certification through the American Nurses Credentialing Center. Nurse practitioners were predominantly family nurse practitioners (43%), and clinical nurse specialists were either critical care clinical nurse specialists (8.9%) or had other certifications (5.9%). APNs provided services in both the main emergency department and the fast track (45.7%) and were relatively new to their role as an APN. DISCUSSION: Consistent with current educational and certification requirements, the vast majority of APNs held a master's degree. Although relatively new to their role as APNs in emergency care, they were nonetheless very experienced as ED registered nurses. The majority of APNs were certified, even though that is not required for practice in all states. Continued research is needed to identify the most effective utilization of APNs, document their contributions to patient care outcomes, and develop strategies to meet their educational and practice needs.     

Correspondence between theoretical models and dual energy X-ray absorptiometry measurements of femoral cross-sectional growth during adolescence

We have developed an analytical model of long bone cross-sectional ontogeny in which appositional growth of the diaphysis is primarily driven by mechanical stimuli associated with increasing body mass during growth and development. In this study, our goal was to compare theoretical predictions of femoral diaphyseal structure from this model with measurements of femoral bone mineral and geometry by dual energy x-ray absorptiometry. Measurements of mid-diaphyseal femoral geometry and structure were made previously in 101 Caucasian adolescents and young adults 9–26 years of age. The data on measured bone mineral content and calculated section modulus were compared with the results of our analytical model of cross-sectional development of the human femur over the same age range. Both bone mineral content and section modulus showed good correspondence with experimental measurements when the relationships with age and body mass were examined. Strong linear relationships were evident for both parameters when examined as a function of body mass.     

Consistent stress profiles in mothers of children with autism

The present study extends the area of research on stress in parents of autistic children. In this study we used the Questionnaire on Resources and Stress (Holroyd, 1987) to compare the stress profiles across mothers (a) who lived in different cultural and geographic environments; (b) who had children of different ages; and (c) who had children with different functioning levels. Results showed a characteristic profile that was highly consistent across each of these subgroups. Major differences from the normative data occurred on scales measuring stress associated with dependency and management, cognitive impairment, limits on family opportunity, and life-span care. Results suggest the importance of developing treatment programs aimed at reducing stress in specific areas in families with autistic children.Orchard Mental Health CenterThis research was supported by U.S. Department of Education, NIDRR Cooperative Agreement No. G0087C0234 (Koegel and Dunlap), by U.S. Public Health Service Research Grants MH28210 (Koegel) and MH39434 (Schreibman) from the National Institute of Mental Health, by Grant No. G008530082 from the U.S. Department of Education, Handicapped Children's Early Education Program (Dunlap), and by Fogarty Senior International Fellowship 1 FOB TWO 1374-01 (Schreibman) from the Fogarty International Center of the National Institutes of Health. The authors acknowledge the contributions of Prof. Dr. med. Hedwig Amorosa, and Dorle Staniczek, Soz. Pad. of the Max Planck Institute for Psychiatry, Munich, West Germany, and express particular appreciation to Prof. Dr. med. D. Ploog, Director of the Institute.     

Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB).

PDB is genetically heterogeneous. Mutations of the sequestosome1 gene have been reported in sporadic and familial forms of Paget's in patients of French Canadian and British descent. Mutational analyses in different ethnic groups are needed to accurately investigate hereditary diseases. We describe two novel mutations of sequestosome1 in 62 Italian sporadic patients, confirming the role of the encoded protein in this disorder. INTRODUCTION: Paget's disease of bone (PDB) is a relatively common disease of bone metabolism reported to affect up to 3% of whites over 55 years of age. The disorder is genetically heterogeneous, and at present, there is scientific evidence that at least eight different human chromosomal loci are correlated with its pathogenesis. Mutations of the sequestosome1 (SQSTM1) gene were identified as responsible for most of the sporadic and familial forms of Paget in patients of French Canadian and British descent. Such mutations were located at exon 7 and 8 levels, encoding for the ubiquitin protein-binding domain (UBA) and representing a mutational hot spot area. MATERIALS AND METHODS: To verify the involvement of this gene in Italian subjects affected by PDB, we performed mutational analysis in 62 sporadic PDB cases. RESULTS: We described three different mutations at exon 8 level: P392L, already described in the French Canadian population and families predominantly of British descendent, and two novel mutations consisting of the amino acid substitutions M404V and G425R. No significant differences in the clinical history of PDB have been observed in patients with SQSTM1 mutations in respect to those without. CONCLUSIONS: Even though our findings suggest a minor involvement of the SQSTM1 gene in the pathogenesis of sporadic Italian Paget's cases, the identification of different significant mutations within the SQSTM1 gene in unrelated, but clinically similar individuals, offers extremely convincing evidence for a causal relationship between this gene and PDB. Longitudinal studies are needed to assess the penetrance of genotype/phenotype correlations. Our findings confirm the evidence of a clustered mutation area at this level in this disorder.