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OBJECTIVE: Autism is a complex, largely genetic psychiatric disorder. In the majority of cases, the cause of autism is not known, but there is strong evidence for a genetic etiology. To identify candidate genes, the physical mapping of balanced chromosomal aberrations is a powerful strategy, since several genes have been characterized in numerous disorders. In this study, the authors analyzed a balanced reciprocal translocation arising de novo in a subject with autism and mental retardation. METHOD: The authors performed the physical mapping of the balanced 9q23/10q22 translocation by fluorescent in situ hybridization experiments using bacterial artificial chromosome clones covering the areas of interest. RESULTS: Findings revealed that the KCNMA1 gene, which encodes the alpha-subunit of the large conductance Ca(2+)-activated K(+) (BK(Ca)) channel, a synaptic regulator of neuronal excitability, is physically disrupted. Further molecular and functional analyses showed the haploinsufficiency of this gene as well as decreased activity of the coded BK(Ca )channel. This activity can be enhanced in vitro by addition of a BK(Ca )channel opener (BMS-204352). Further mutational analyses on 116 autistic subjects led to the identification of an amino acid substitution located in a highly conserved domain of the protein not found in comparison subjects. CONCLUSIONS: These results suggest a possible association between a functional defect of the BK(Ca) channel and autistic disorder and raise the hypothesis that deficits in synaptic transmission may contribute to the physiopathology of autism and mental deficiency. [ABSTRACT FROM AUTHOR]

Considerable discussion has occurred concerning the diagnostic label chronic fatigue syndrome (CFS). Many patient groups argue that using this term trivializes the seriousness of the syndrome. A federal government organization, the Chronic Fatigue Syndrome Coordinating Committee, appointed a Name Change Workgroup to attempt to develop different terminology for this disorder. This group distributed a poll to patients and health-care providers to obtain information about its recommendation to use an umbrella term, chronic neuroendocrineimmune dysfunction syndrome, and subtypes under it. In addition, the CFIDS Association, a national self-help advocacy organization, distributed a questionnaire to a group of health-care providers concerning these recommendations. The findings of both polls are presented. Overall findings indicated that the majority of patients want the name changed and that the term chronic neuroendocrineimmune dysfunction syndrome was acceptable to the majority of this group. [ABSTRACT FROM AUTHOR]

Evidence-based practice can be hard to implement in the 'real world' of clinical care. A set of reference cards with outcome-specific intervention options can make that practice possible. The Oncology Nursing Society Putting Evidence Into Practice(R) (ONS PEP) resources cover 16 topics to improve care for patients with cancer and their families. A survey evaluated awareness of the tools and the need for further research on their adoption. The survey also elicited target topics for future ONS PEP resources. Awareness of the resources varies among different nursing roles. Increased awareness among clinicians can guide and support improved patient care. [ABSTRACT FROM AUTHOR]

Background: Low dose IL-2 can restore the function of T and NK cells from Wiskott-Aldrich (WAS) patients. However, the safety of in vivo IL-2 in WAS is unknown., Objectives: A phase-I study to assess safety of low dose IL-2 in WAS., Methods: Patients received 5 daily subcutaneous IL-2 injections, every 2months, for three courses. A "3+3" dose escalation method was used., Results: 6 patients received the 0.5millionunits/m 2 /day dose without serious adverse events. However, 2 of 3 patients receiving the 1millionunits/m 2 /day dose developed thrombocytopenia requiring platelet transfusions. A statistically significant platelet increase occurred in patients receiving the 0.5millionunits/m 2 /day dose. A trend toward higher T, B and NK cell numbers and higher T regulatory cell percentages was observed., Conclusion: We have identified a safe IL-2 dose for WAS patients. Additional trials are indicated to study the efficacy of this immunostimulant as a therapy for WAS., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Changes in contaminant fluxes resulting from aggressive remediation of dense nonaqueous phase liquid (DNAPL) source zone were investigated at two sites, one at Hill Air Force Base (AFB), Utah, and the other at Ft. Lewis Military Reservation, Washington. Passive Flux Meters (PFM) and a variation of the Integral Pumping Test (IPT) were used to measure fluxes in ten wells installed along a transect down-gradient of the trichloroethylene (TCE) source zone, and perpendicular to the mean groundwater flow direction. At both sites, groundwater and contaminant fluxes were measured before and after the source-zone treatment. The measured contaminant fluxes (J; ML(-2)T(-1)) were integrated across the well transect to estimate contaminant mass discharge (M(D); MT(-1)) from the source zone. Estimated M(D) before source treatment, based on both PFM and IPT methods, were approximately 76 g/day for TCE at the Hill AFB site; and approximately 640 g/day for TCE, and approximately 206 g/day for cis-dichloroethylene (DCE) at the Ft. Lewis site. TCE flux measurements made 1 year after source treatment at the Hill AFB site decreased to approximately 5 g/day. On the other hand, increased fluxes of DCE, a degradation byproduct of TCE, in tests subsequent to remediation at the Hill AFB site suggest enhanced microbial degradation after surfactant flooding. At the Ft. Lewis site, TCE mass discharge rates subsequent to remediation decreased to approximately 3 g/day for TCE and approximately 3 g/day for DCE approximately 1.8 years after remediation. At both field sites, PFM and IPT approaches provided comparable results for contaminant mass discharge rates, and show significant reductions (>90%) in TCE mass discharge as a result of DNAPL mass depletion from the source zone.

Purpose/objectives: To determine the priorities of oncology nursing research, including the effect of evidence-based practice resources as identified by the Oncology Nursing Society (ONS) membership in June 2008., Design: Descriptive, cross-sectional., Setting: A Web-based survey of ONS members., Sample: Stratified into three groups: a representative random sample of the general membership (n = 4,460, 421 responded), an over-sampled random sample of advanced practice nurses (n = 980, 149 responded), and all ONS members who were doctorally prepared (n = 589, 143 responded); 713 responded overall., Methods: The 2004 survey was revised and the new 2008 survey was beta tested. The invitation to complete the survey was sent via e-mail with a link to the survey Web site. A follow-up reminder was sent one week after the initial invitation., Main Research Variables: 70 oncology nursing research topic questions, divided into five categories, and two additional categories regarding ONS Putting Evidence Into Practice resources., Findings: Quality of life and pain were the two highest rated topics, consistent with 2000 and 2004 research priority survey findings. Eleven topics were new to the top 20 ranked priority topics in 2008. Differences in rankings were apparent between member groups., Conclusions: The respondents represented the broad spectrum of ONS membership. Changes in topic rankings indicate that oncology nursing research priorities have shifted since the 2004 survey. The lag in research result dissemination to clinical practice may account for differences in topic rating between groups., Implications for Nursing: The survey results will be used to develop the 2009-2013 ONS Research Agenda. The results also will assist the ONS Foundation and other funding agencies in setting priorities.

Since 1988, when the term chronic fatigue syndrome (CFS) was coined, considerable discussion has occurred about stigma associated with this diagnostic term. In particular, patients with CFS have felt that this term trivializes the serious nature of this disorder. A Name Change Work group, appointed by the CFS Coordinating Committee, developed an umbrella term: chronic neuroendocrineimmune dysfunction syndrome (CNDS), and proposed that there would be sub-types under this term, one being CFS. The present study examined attributions of this new umbrella term when compared with CFS. Nurses and physician assistants (PAs) were presented a case study of a patient with symptoms of CFS. They were told that the patient had either "chronic fatigue syndrome," "chronic neuroendocrineimmune dysfunction syndrome," or "chronic neuroendocrineimmune dysfunction syndrome, which had formerly been called chronic fatigue syndrome." The different terms led to different attributions, with PA respondents rating the "CNDS" label as more severe. Results suggest that a more medical sounding term (CNDS) may lead to attributions that this syndrome is a more serious, disabling illness. The policy implications of these findings are discussed.

We studied the effects of intraarticular (ia) administration of hyaluronic acid (HA) (Mw approximately 9 x 10(5)) (Artz) on cartilage integrity and release into synovial fluid (SF) of keratan sulfate peptides (KS-pep) in an ovine model of early osteoarthritis (OA) induced by meniscectomy. Five consecutive weekly injections of HA (2 ml, 10 mg/ml) or saline (2 ml) were initiated 16 weeks after meniscectomy, and animals were sacrificed 5 weeks after the last injection. SF was sampled 8, 16, 23, and 26 weeks postoperation. In the saline injected animals KS-pep levels increased progressively in SF, relative to nonoperated controls (p < 0.05). KS-pep levels in SF of the HA treated group also increased, but were not statistically different from controls. Using a modified Mankin histological scoring system, cartilage at necropsy of HA injected joints showed less damage than similar regions of saline treated animals. A new mechanism for the protective effects of HA on cartilage is proposed.

In the 1960s, when the design of nursing curricula moved away from the medical model and toward a model based on nursing concepts, formal rotation to the operating room was deleted from many baccalaureate programs. Nurse educators, grappling with a seriously overcrowded curriculum, argued that when a conceptual approach is used, students do not necessarily need extensive experience in nursing specialty areas, such as operating room nursing. In contrast, operating room nurses argued that diminishing the operating room experience had a negative impact on the preparation of students for the specialty. They contended that without meaningful learning experiences in the operating room, students would miss unique and valuable experiences in the operating room, and there would be less likelihood that new graduates would select this specialty. The specialty of perioperative nursing has responded to major changes in the health care industry and has expanded and clarified its professional scope. Today, the perioperative continuum provides a unique opportunity for teaching many fundamental concepts and skills of nursing practice. For example, perioperative nursing provides an opportunity for teaching concepts and principles of adaptation, safety, asepsis, patient and family teaching, teamwork, and the continuity of care. The perioperative nursing arena offers unique opportunities for nursing students to learn key concepts, issues, and skills that are relevant to many nursing practice areas. The whole-brain approach described in this article provides a model for the reevaluation and revitalization of perioperative nursing in the baccalaureate nursing curriculum.(ABSTRACT TRUNCATED AT 250 WORDS)