These results demonstrate the utility of SNP genotyping data for detection of clinically significant abnormalities, including chimerism/mosaicism and recessive Mendelian disorders associated with autozygosity. The incidence of clinically significant low level mosaicism inferred from these cases suggests that this has hitherto been underestimated and chromosome mosaicism frequently occurs in the absence of indicative clinical features. The growing appreciation among clinicians and demand for SNP genotyping data poses significant challenges for the interpretation of LCSH, especially where there is no detailed phenotypic description to direct laboratory analysis. Finally, reporting of unexpected or hidden consanguinity revealed by SNP array analysis raises potential ethical and legal issues.

Bloom syndrome is a recessive human genetic disorder with features of genome instability, growth deficiency and predisposition to cancer. The only known causative gene is the BLM helicase that is a member of a protein complex along with topoisomerase III alpha, RMI1 and 2, which maintains replication fork stability and dissolves double Holliday junctions to prevent genome instability. Here we report the identification of a second gene, RMI2, that is deleted in affected siblings with Bloom-like features. Cells from homozygous individuals exhibit elevated rates of sister chromatid exchange, anaphase DNA bridges and micronuclei. Similar genome and chromosome instability phenotypes are observed in independently derived RMI2 knockout cells. In both patient and knockout cell lines reduced localisation of BLM to ultra fine DNA bridges and FANCD2 at foci linking bridges are observed. Overall, loss of RMI2 produces a partially active BLM complex with mild features of Bloom syndrome.

The objectives of this study were to assess nurse practitioners' (NP) beliefs and attitudes about evidencebased nursing practice (EBNP) and their implementation of EBNP. This exploratory descriptive study surveyed NPs in Tennessee. Most of the respondents were White females, 42 years of age, with a master's degree as a family nurse practitioner (FNP), practicing in primary care for a mean of 7.9 years. The respondents tended to have positive beliefs and attitudes about EBNP, but their implementation of EBNP was not consistent with their beliefs. The findings of this survey emphasize the need for EBNP in NP education curricula and continuing education programs and for NP access to evidence-based information at point of care to improve the care provided to patients.Keywords: evidence-based practice in nursing; evidence-based nursing practice; nurse practitioners; advanced practice nurses Evidence-based nursing practice (EBNP) is currently recognized as important for the advancement of nursing as a scholarly practice discipline. EBNP has been defined as the integration of best evidence, nursing expertise, and the values and preferences of individuals, families, and communities (Sigma Theta Tau International [STTI], 2003). This definition of EBNP assumes that positive patient outcomes will be attained when nurses use the best available research evidence combined with their nursing knowledge, then plan, and provide care that takes into account patients' and families' cultural values and personal preferences.Over the past decade, nurse researchers have assessed generalist and advanced practice nurses' (APN) use of EBNP at community hospitals, magnet-affiliated hospitals, academic medical centers, private practice sites, and clinics; as well as in rural, suburban, and urban areas across the United States (Bogdan-). Overwhelmingly, the findings related to barriers and facilitators for EBNP were similar across studies and levels of nursing. Common themes emerging as barriers to EBNP were lack of time and lack of knowledge to critique and understand research findings; lack of acceptance of EBNP by supervising physicians; traditional mindsets and cultures of administrators and organizations, including not providing adequate resources for EBNP; and the quality of or the nurses' abilities to find research findings relevant to the practice setting. Additionally, facilitators for EBNP appear to be universal and include collaboration among educators, researchers, administrators, and practitioners; integration of EBNP into nursing education curricula, especially at the graduate level of nursing education; and the development of an organizational culture to foster EBNP, including the use of APNs as mentors and role models.Despite the voluminous published literature regarding EBNP, very few studies were found that addressed nurse practitioner's (NP) beliefs and attitudes regarding EBNP or implementation of EBNP in their NP practices. EBNP is an expectation of NPs, and the National Organization of Nurse Practitioner Faculties (NONPF,