bluuebunny/crossref_metadata_2025_split huggingface dataset:
Physical, Psychological and Ethical issues in Caring for Individuals with Genetic Skin Disease
Authors: Seibert Diane C. , Darling Thomas N. 
Published: January 2013

AbstractPurpose: Some forms of genetic skin disease are highly prevalent and others are exceedingly rare, but collectively, genetic skin disorders (or genodermatoses) are often poorly understood. The purpose of this article, therefore, is to increase nurses’ awareness and understanding of some of the physical, psychological, social, and ethical issues facing patients with inherited skin disorders.Organizing Construct: This article offers an overview of genetic skin diseases; highlights the complexity and prevalence of the genodermatoses; describes inheritance patterns, genetics, and treatment for six genodermatoses; and reviews some of the ethical, privacy, technological, and resource issues nurses should consider when caring for patients with genetic skin disorders.Conclusions: Because genodermatoses are found in all age groups, across all populations, and within all healthcare settings, nurses are uniquely positioned to address the educational and healthcare needs of patients and families with inherited skin disorders.Clinical Relevance: Over the past two decades, genetics has evolved from a niche specialty into general practice. To ensure that patients and their families receive appropriate services and resources, nurses must have a working knowledge of genetic concepts. This article reinforces key genetic concepts while discussing many of the issues and concerns important to caring for patients with genetic skin disease.
Implications of Newborn Screening for Nurses
Authors: DeLuca Jane , Zanni Karen L. , Bonhomme Natasha , Kemper Alex R. 
Published: January 2013

AbstractPurpose: Newborn screening has dramatically decreased the morbidity and mortality associated with a wide range of heritable conditions. Continuing advances in screening technology and improvements in the effectiveness of treatment are driving the rapid expansion of newborn screening programs. In this article, we review issues in newborn screening care and opportunities for nurses and nursing faculty to provide education and conduct research to improve the impact of newborn screening.Organizing Construct: This article provides (a) an overview of current newborn screening activities, including how conditions are added to newborn screening panels and how implementation occurs at state and national levels; (b) a description of current controversies and ethical considerations; (c) a description of the roles of nurses in the newborn screening process; (d) suggestions for nursing education and research; and (e) a summary of expected future developments in newborn screening, including genome sequencing.Conclusions: Nurses are uniquely well suited to address the educational needs and future research in newborn screening because of the role that nurses play in the provision of direct clinical care and in population‐based healthcare delivery.Clinical Relevance: Newborn screening is a public health approach to the identification of rare but treatable conditions in early infancy. In the United States, as in other industrialized countries, newborn screening is rapidly expanding. Nurses, nurse educators, and nurse researchers are positioned to contribute to the field of newborn screening by assuring programs are implemented safely and effectively, by facilitating education of the nursing work force, and by developing and contributing to research programs in newborn screening.
The Implications of Genomics on the Nursing Care of Adults With Neuropsychiatric Conditions
Authors: Schutte Debra L. , Davies Marilyn A. , Goris Emilie D 
Published: January 2013

AbstractPurpose: Neuropsychiatric disorders contribute substantially to disease burden and quality of life across the lifespan and the globe. The purpose of this article is to review the state of the science regarding genomic contributions to selected common neuropsychiatric conditions and to examine the consequent immediate and future implications for nursing practice and research.Organizing Construct: Our work is guided by an ecological model that recognizes that common diseases are complex or multifactorial, meaning that multiple genomic and environmental factors contribute to their etiology.Methods: A review of the literature was conducted to determine the state of the science in relationship to the genomic contributions to selected neuropsychiatric disorders.Findings: Neuropsychiatric conditions are genomically heterogeneous, both within a single disorder and across groups of disorders. While recent genomic research yields clinically validated and useful information for a small subset of persons (e.g., predictive genetic testing for Huntington disease and early‐onset Alzheimer disease), broad clinical application of genetic information is not yet available. In addition, the implications of genomics for the development and targeting of nonpharmacologic treatment strategies is largely unexplored.Conclusions: Further research is needed to expand knowledge beyond genomic risk for the presence of disease to knowledge about the genomic risk for symptoms, symptom burden, and tailored symptom management interventions.Clinical Relevance: Knowledge about the genomic influences on neuropsychiatric conditions suggests important implications for practicing nurses in the identification of persons at risk, provision of follow‐up support, and in the administration of medications.
A Blueprint for Genomic Nursing Science
Authors:   Genomic Nursing State of the Science Advisory Panel, Calzone Kathleen A. , Jenkins Jean , Bakos Alexis D. , Cashion Ann K. , Donaldson Nancy , Feero W. Gregory , Feetham Suzanne , Grady Patricia A. , Hinshaw Ada Sue , Knebel Ann R. , Robinson Nellie , Ropka Mary E. , Seibert Diane , Stevens Kathleen R. , Tully Lois A. , Webb Jo Ann 
Published: January 2013

AbstractPurpose: This article reports on recommendations arising from an invitational workshop series held at the National Institutes of Health for the purposes of identifying critical genomics problems important to the health of the public that can be addressed through nursing science. The overall purpose of the Genomic Nursing State of the Science Initiative is to establish a nursing research blueprint based on gaps in the evidence and expert evaluation of the current state of the science and through public comment.Organizing Constructs: A Genomic Nursing State of the Science Advisory Panel was convened in 2012 to develop the nursing research blueprint. The Advisory Panel, which met via two webinars and two in‐person meetings, considered existing evidence from evidence reviews, testimony from key stakeholder groups, presentations from experts in research synthesis, and public comment.Findings: The genomic nursing science blueprint arising from the Genomic Nursing State of Science Advisory Panel focuses on biologic plausibility studies as well as interventions likely to improve a variety of outcomes (e.g., clinical, economic, environmental). It also includes all care settings and diverse populations. The focus is on (a) the client, defined as person, family, community, or population; (b) the context, targeting informatics support systems, capacity building, education, and environmental influences; and (c) cross‐cutting themes. It was agreed that building capacity to measure the impact of nursing actions on costs, quality, and outcomes of patient care is a strategic and scientific priority if findings are to be synthesized and aggregated to inform practice and policy.Conclusions: The genomic nursing science blueprint provides the framework for furthering genomic nursing science to improve health outcomes. This blueprint is an independent recommendation of the Advisory Panel with input from the public and is not a policy statement of the National Institutes of Health or the federal government.Clinical Relevance: This genomic nursing science blueprint targets research to build the evidence base to inform integration of genomics into nursing practice and regulation (such as nursing licensure requirements, institutional accreditation, and academic nursing school accreditation).
Cognitive‐behavioural physical activity treatment in African‐American pre‐schoolers: Effects of age, sex, and BMI
Authors: Annesi James J , Smith Alice E , Tennant Gisèle 
Published: January 2013

AimPrevalence of overweight and obesity in children of 5 years and younger has greatly increased in countries including Australia, Canada, the UK and the USA, with African‐Americans most affected in the USA. Low amounts of physical activity may be a primary cause. Interventions intended to increase physical activity during pre‐school have had minimal effects.MethodsA physical activity intervention derived from self‐efficacy and social cognitive theory administered by pre‐school teachers in the USA (Start For Life) was contrasted with typical care over 8 weeks. The 30‐min‐per‐day treatment incorporated structured gross motor skill physical activities and training in self‐management and self‐regulation skills. The African‐American children in the treatment (n = 154, 21 classrooms) and control (n = 121, 11 classrooms) groups ranged in age from 3.5 to 5.6 years.ResultsMixed‐model repeated measures analysis of variances indicated significantly (P ≤ 0.05) greater increases in moderate‐to‐vigorous physical activity (MVPA) and vigorous physical activity (VPA) in the treatment group when both the children and classrooms were the unit of analysis. Time in sedentary activities was not affected. Together, age, sex and body mass index (BMI) percentile significantly predicted treatment‐related changes in MVPA (R2 = 0.11) and VPA (R2 = 0.11), with age (β = −0.22 and β = −0.23, respectively) and BMI percentile (β = −0.24 and β = −0.23, respectively) contributing uniquely to the explained variances indicating greater treatment effects for participants who were younger and had a lower BMI percentile.ConclusionsThe Start For Life treatment was associated with increased MVPA by approximately 1 h per week, with most of that change being in VPA. After sufficient replication, adjustments may be made to maximise treatment effects.
Antihyperalgesic activity of a novel synthesized analogue of lidocaine in diabetic rats
Authors: García-Hernández Liliana , Navarrete-Vázquez Gabriel , González-Trujano María Eva , López-Muñoz Francisco Javier , Déciga-Campos Myrna 
Published: January 2013

Abstract

Objectives
The purpose of this study was to assess the antinociceptive and antihyperalgesic effects of a lidocaine analogue N-(2,6-dichlorophenyl)-2-(4-methyl-1-piperidinyl)acetamide (LIA; Figure 1).

Methods
The structure of LIA was established by elemental analysis and compatible IR, 1H NMR, 13C NMR, and spectral data. Nociceptive and hyperalgesic activity were evaluated in normoglycaemic and streptozocin-induced diabetic rats using the formalin test. Formalin-evoked flinching, an indication of nociception and hyperalgesia, was increased in diabetic rats (using 0.5% formalin) compared with nondiabetic rats (using 1% formalin).

Key findings
Local administration of LIA into the dorsal surface of the right hind paw (0.18–5.6 mg per paw) significantly reduced the formalin-induced nociceptive and hyperalgesic behaviour of nondiabetic and diabetic rat. The antinociceptive effect of LIA was higher than that of lidocaine injection, furthermore this effect was higher than that of gabapentin.

Conclusions
LIA may have potential as a treatment for diabetic hyperalgesia. Further investigations of the antinociceptive mechanisms and the safety of this new compound are necessary.
Heterochrony and limb form variation in crested newts
Authors: Tomašević Kolarov N. 
Published: January 2013

AbstractThe crested newt superspecies includes four morphotypes, each characterized by a specific body‐to‐limb conformation associated with their respective ecologies: newts with large, stocky bodies and robust limbs are more terrestrial, whereas newts with small, elongate bodies and small limbs are more aquatic. This study investigated whether heterochronic transformations can account for limb form variation in light of phylogenetic history and ecology. Ossification sequence analyses revealed some synapomorphic heterochronic shifts specific to crested newts, including delay of the ossification in the second finger and accelerations in metacarpal III and metatarsal V. These shifts involve a change from pre‐axial to post‐axial dominance in a developmental sequence uncommon to caudate salamanders. No adaptive explanation of these shifts is apparent. The allometric trajectories of crested newt species were similar after metamorphosis; however, pre‐metamorphic growth showed species differences, potentially reflecting differences among species in ecological or functional demands.
Clinical implication of hypovascular hepatocellular carcinoma studied in 4,474 patients with solitary tumour equal or less than 3 cm
Authors: Takayasu Kenichi , Arii Shigeki , Sakamoto Michiie , Matsuyama Yutaka , Kudo Masatoshi , Ichida Takafumi , Nakashima Osamu , Matsui Osamu , Izumi Namiki , Ku Yonson , Kokudo Norihiro , Makuuchi Masatoshi ,   Liver Cancer Study Group of Japan
Published: January 2013

AbstractBackground & AimsTo clarify the biological behaviour of small hypovascular hepatocellular carcinoma (HCC) because of insufficient evidence even though frequently encountered.MethodsThe study covered naïve 4,474 patients who met solitary HCC ≤3 cm (mean, 2.1 cm), histopathologically proven and Child Pugh A or B. Macroscopic vascular invasion and distant metastasis were excluded. The hypovascularity of tumour was defined as hypo‐ or iso‐enhancement in arterial phase of multiple dynamic imaging techniques.ResultsOf them, 802 (18%) were hypovascular. The ratio of hypovascular HCC decreased as tumour size increased (P < 0.001) and most of them developed to hypervascular type when they grew over 1.5 cm. Hypovascular group showed a significantly higher ratio of well differentiated grade (P < 0.001) and marginally less incidence of microvascular invasion and metastases compared with hypervascular group. The histologic dedifferentiation (less differentiation) developed step‐by‐step as tumour size increased in hyper‐ and even hypovascular group. The des‐γ‐carboxy prothrombin (DCP) value ≥ 300mAU/ml was closely correlated with increase of tumour size in both groups. Logistic regression analysis revealed five variables were independent predictors for hypovascular HCC; tumour size ≤1.5 cm, alpha‐fetoprotein < 200 ng/ml, DCP < 40mAU/ml, well differentiated grade, and positivity for hepatitis C virus antibody.ConclusionsHypovascular HCC was biologically less aggressive and developed with stepwise dedifferentiation and transformation to hypervascular appearance along with tumour growth. These results will help in leading correct diagnosis of small hypovascular tumour and assessing optimal treatment for hypovascular HCC≤3 cm.
1p/19q testing has no significance in the workup of glioblastomas
Authors: Clark K. H. , Villano J. L. , Nikiforova M. N. , Hamilton R. L. , Horbinski C. 
Published: January 2013

AimsTo determine whether testing for isolated 1p or 19q losses, or as a codeletion, has any significance in the workup of glioblastomas (GBMs).MethodsUpfront 1p/19q testing by fluorescence in situ hybridization (FISH) and/or polymerase chain reaction (PCR)‐based loss of heterozygosity (LOH) was done in 491 gliomas that were histologically diagnosed as GBMs. Outcomes were determined and measured against 1p/19q results.ResultsTwenty‐eight showed apparent 1p/19q codeletion by either FISH and/or PCR‐based LOH, but only 1/26 showed codeletion by both tests. Over 90% of tumours with apparent codeletion by either FISH or LOH also had 10q LOH and/or EGFR amplification, features inversely related to true whole‐arm 1p/19q codeletion. Furthermore, only 1/28 tumours demonstrated an R132H IDH1 mutation. Neither 1p/19q codeletion by FISH nor LOH had an impact on GBM survival. Isolated losses of 1p or 19q also had no impact on survival.ConclusionsThese data suggest that (i) 1p/19q testing is not useful on gliomas that are histologically GBMs; (ii) codeletion testing should be reserved only for cases with compatible morphology; and (iii) EGFR, 10q, and IDH1 testing can help act as safeguards against a false‐positive 1p/19q result.
Integrating the overlap of obstructive lung disease and obstructive sleep apnoea: OLDOSA syndrome
Authors: Ioachimescu Octavian C. , Teodorescu Mihaela 
Published: January 2013

AbstractObstructive lung diseases (OLD) such as asthma and chronic obstructive pulmonary disease (COPD) are very prevalent conditions. Disease phenotypes (e.g. chronic bronchitis, emphysema, etc.) often overlap, and significant confusion exists about their optimal nosologic characterization. Obstructive sleep apnoea (OSA) is also a common condition that features bidirectional interactions with OLD. OSA appears to be more commonly seen in patients with OLD, perhaps as a result of shared risk factors, for example obesity, smoking, increased airway resistance, local and systemic inflammation, anti‐inflammatory therapy. Conversely, OSA is associated with worse clinical outcomes in patients with OLD, and continuous positive airway pressure therapy has potential beneficial effects on this vicious pathophysiological interaction. Possible shared mechanistic links include increased parasympathetic tone, hypoxaemia‐related reflex bronchoconstriction/vasoconstriction, irritation of upper airway neural receptors, altered nocturnal neurohormonal secretion, pro‐inflammatory mediators, within and inter‐breath interactions between upper and lower airways, lung volume‐airway dependence, etc. While the term overlap syndrome has been defined as the comorbid association of COPD and OSA, the interaction between asthma and OSA has not been integrated yet nosologically; in this review, the latter will be called alternative overlap syndrome. In an effort to bolster further investigations in this area, an integrated, lumping nomenclature for OSA in the setting of OLD is proposed here—OLDOSA (obstructive lung disease and obstructive sleep apnoea) syndrome.
European guidelines for prevention and management of influenza in hematopoietic stem cell transplantation and leukemia patients: summary of ECIL‐4 (2011), on behalf of ECIL, a joint venture of EBMT, EORTC, ICHS, and ELN
Authors: Engelhard D. , Mohty B. , de la Camara R. , Cordonnier C. , Ljungman P. 
Published: January 2013

AbstractInfluenza may cause severe disease and mortality in leukemia patients and in hematopoietic stem cell transplantation recipients. The 4th European Conference of Infections in Leukemia (ECIL‐4) has developed evidence‐based guidelines for prevention and management of influenza infections in these patients. Real‐time reverse‐transcription polymerase chain reaction is the diagnostic test of choice, as it is the most sensitive and specific test for influenza. The risks for severe influenza and fatal outcome include lymphopenia, older age, influenza soon after transplantation or chemotherapy, steroid treatment, and lack of early antiviral therapy. Neuraminidase inhibitors (oral oseltamivir or inhalation of zanamivir) are currently the most effective therapeutic agents for influenza. Main preventive measures include annual vaccination of patients, household contacts, and hospital staff. This review summarizes ECIL‐4's main recommendations.
Results of phenol red thread test in clinically normal Syrian hamsters (Mesocricetus auratus)
Authors: Rajaei Seyed Mehdi , Sadjadi Reza , Sabzevari Amin , Ghaffari M. Selk 
Published: January 2013

AbstractObjectiveTo determine the normal reference range for phenol red thread test (PRTT) values in clinically normal Syrian hamsters (Mesocricetus auratus).AnimalsSixteen healthy adult Syrian hamsters (eight males and eight females) were used in this study.ProcedureOphthalmic examinations were performed without chemical restraint. PRTT values were evaluated in both eyes of all Syrian hamsters using a commercial PRTT strip of a single lot number.ResultsNo statistically significant differences between right and left eyes were found for any of the results. The mean ± SD PRTT values for the study population were 6.8 ± 2.5 mm/15 s with a range from 3 to 11.5 mm/15 s. Mean PRTTs in male animals were 5.1 ± 1.2 mm/15 s, whereas mean PRTTs in female hamsters were 8.5 ± 2.3 mm/15 s. Comparison between mean PRTT values in males and females showed a significant difference (P = 0.004). Mean weights for males and females were 80.9 ± 4.8 and 90.6 ± 8.5 g, respectively. No linear relationship between mean PRTT and body weight was found in female (P = 0.46) and male (P = 0.92) hamsters.ConclusionThis study provides novel data for normal reference ranges of PRTT values in healthy Syrian hamsters. Results of this study may assist veterinarians in the diagnosis of ocular surface disease and syndromes affecting the tear film in these species.
Circulating Breast Tumor Cells Exhibit Dynamic Changes in Epithelial and Mesenchymal Composition
Authors: Yu Min , Bardia Aditya , Wittner Ben S. , Stott Shannon L. , Smas Malgorzata E. , Ting David T. , Isakoff Steven J. , Ciciliano Jordan C. , Wells Marissa N. , Shah Ajay M. , Concannon Kyle F. , Donaldson Maria C. , Sequist Lecia V. , Brachtel Elena , Sgroi Dennis , Baselga Jose , Ramaswamy Sridhar , Toner Mehmet , Haber Daniel A. , Maheswaran Shyamala 
Published: January 2013

Cells in Transit(ion)Epithelial-mesenchymal transition (EMT) is a developmental program that converts adherent epithelial cells to a migratory mesenchymal state. This cell-fate change has been linked to tumor metastasis in preclinical models. To investigate whether EMT occurs in human cancer,Yuet al.(p.580) isolated circulating tumor cells (CTCs) from breast cancer patients and analyzed their expression of epithelial and mesenchymal markers by RNA–in situ hybridization and RNA sequencing. Biphenotypic cells expressing both types of markers were rare in primary breast tumors but were enriched among CTCs, as were cells expressing only mesenchymal markers. Serial blood samples from one patient revealed that CTCs in the mesenchymal state declined in number when the patient responded to therapy but rebounded when the disease began to progress—a pattern repeated when a different therapy was administered. Thus, EMT may facilitate tumor cell dissemination in humans.