Plethora or paucity: a systematic search and bibliometric study of the application and design of qualitative methods in nursing research 2008-2010.

Qualitative methodology has increased in application and acceptability in all research disciplines. In nursing, it is appropriate that a plethora of qualitative methods can be found as nurses pose real-world questions to clinical, cultural and ethical issues of patient care (Johnson, 2007; Long and Johnson, 2007), yet the methods nurses readily use in pursuit of answers remains under intense scrutiny. One of the problems with qualitative methodology for nursing research is its place in the hierarchy of evidence (HOE); another is its comparison to the positivist constructs of what constitutes good research and the measurement of qualitative research against this.

Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.

Carney-Stratakis syndrome, an inherited condition predisposing affected individuals to gastrointestinal stromal tumor (GIST) and paraganglioma, is caused by germline mutations in succinate dehydrogenase (SDH) subunits B, C, or D, leading to dysfunction of complex II of the electron transport chain. We evaluated the role of defective cellular respiration in sporadic GIST lacking mutations in KIT or PDGFRA (WT). Thirty-four patients with WT GIST without a personal or family history of paraganglioma were tested for SDH germline mutations.

Effect of eszopiclone on sleep, fatigue, and pain in patients with mucositis associated with hematologic malignancies.

Purpose: Patients with malignancy sometimes develop painful mucositis and require patient-controlled analgesia (PCA) to treat their pain. Pain disrupts sleep and there is some evidence that analgesic medications also disrupt sleep. This study examined whether treatment with the sedative hypnotic eszopiclone could improve self-reports of sleep, fatigue, and pain as well as decrease opioid self-administered via PCA.

Monoclonal antibodies in the treatment of hematologic malignancy.

Methods to generate monoclonal antibodies to antigens of neoplastic cells have revolutionized our understanding of cancer cell growth and differentiation, diagnosis, and treatment. Monoclonal antibodies derived by immunizing animals (mostly mice) with mammalian cells or molecules have been critical reagents for the discovery and characterization of many key molecules involved in the behavior of neoplastic cells. Now, over 30 years later, monoclonal antibodies are widely used in the differential diagnosis of cancer and are key elements in the treatment of many forms of cancer.

Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.

Triangulation of the human, chimpanzee, and Neanderthal genome sequences with respect to 44,348 disease-causing or disease-associated missense mutations and 1,712 putative regulatory mutations listed in the Human Gene Mutation Database was employed to identify genetic variants that are apparently pathogenic in humans but which may represent a "compensated" wild-type state in at least one of the other two species. Of 122 such "potentially compensated mutations" (PCMs) identified, 88 were deemed "ancestral" on the basis that the reported wild-type Neanderthal nucleotide was identical to that of the chimpanzee. Another 33 PCMs were deemed to be "derived" in that the Neanderthal wild-type nucleotide matched the human but not the chimpanzee wild-type.

Liberating the NHS; commissioning, outsourcing and a new politics debate.

In the short months following the result of the UK 2010 General election, a new Government White Paper has been released entitled: Equity and Excellence: Liberating the NHS (Department of Health (DH), 2010a). It strives to distance itself from previous health-care proposals (DH, 2009), yet if the initiatives of this latest paper are combined against previous initiatives, also using high impact declarative terms, such as competition and choice, it is clear that little has changed and more important principles than saving money are at risk.

SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors.

Mutations in the tumor suppressor genes SDHB, SDHC, and SDHD (or collectively SDHx) cause the inherited paraganglioma syndromes, characterized by pheochromocytomas and paragangliomas. However, other tumors have been associated with SDHx mutations, such as gastrointestinal stromal tumors (GISTs) specifically in the context of Carney-Stratakis syndrome. Previously, we have shown that SDHB immunohistochemistry is a reliable technique for the identification of pheochromocytomas and paragangliomas caused by SDHx mutations.

Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides.

The cytosine-guanine (CpG) dinucleotide has long been known to be a hotspot for pathological mutation in the human genome. This hypermutability is related to its role as the major site of cytosine methylation with the attendant risk of spontaneous deamination of 5-methylcytosine (5mC) to yield thymine. Cytosine methylation, however, also occurs in the context of CpNpG sites in the human genome, an unsurprising finding since the intrinsic symmetry of CpNpG renders it capable of supporting a semi-conservative model of replication of the methylation pattern.

Role of ultrasonography in the diagnosis of temporal arteritis.

Background: Temporal artery (TA) biopsy is the current standard for diagnosing temporal arteritis, but has limited sensitivity. Colour duplex ultrasonography is a newer, non-invasive method of diagnosing temporal arteritis.

Methods: A systematic review was performed of trials comparing TA biopsy with duplex ultrasonography.

Work-related lesions of the supraspinatus tendon: a case-control study.

Objectives: To examine the dose-response relationship between cumulative duration of work with highly elevated arms (work above shoulder level) as well as of manual material handling and ruptures of the supraspinatus tendon in a population-based case-control study.

Methods: In 14 radiologic practices, we recruited 483 male patients aged 25-65 with radiographically confirmed partial (n = 385) or total (n = 98) supraspinatus tears associated with shoulder pain. A total of 300 male control subjects were recruited.

CTLA-4 blockade following relapse of malignancy after allogeneic stem cell transplantation is associated with T cell activation but not with increased levels of T regulatory cells.

Cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) is a key negative regulator of T cell activation and proliferation. Ipilimumab is a human monoclonal antibody that specifically blocks the binding of CTLA-4 to its ligand. To test the hypothesis that blockade of CTLA-4 by ipilimumab could augment graft-versus-malignancy (GVM) effects without a significant impact on graft-versus-host disease (GVHD), we conducted a phase I clinical trial of ipilimumab infusion in patients with relapsed malignancy following allogeneic hematopoietic stem cell transplantation (allo-HSCT).

Novel H1N1 influenza in hematopoietic stem cell transplantation recipients: two centers' experiences.

Respiratory virus infections, such as influenza A, cause significant morbidity in hematopoietic stem cell transplantation (HSCT) recipients. The clinical characteristics and impact of infection with the novel H1N1 virus in this patient population is not yet well defined, however. HSCT recipients diagnosed with proven or probable H1N1 during the 2009 pandemic were identified and charts were retrospectively reviewed with analysis of clinical descriptions, risk factors, diagnosis, treatments, and outcomes.

Reduced-intensity conditioning allogeneic hematopoietic cell transplantation for patients with hematologic malignancies who relapse following autologous transplantation: a multi-institutional prospective study from the Cancer and Leukemia Group B (CALGB trial 100002).

We prospectively treated 80 patients with relapse of malignancy or secondary myelodysplasia after autologous hematopoietic cell transplantation (AHCT) with allogeneic HCT (allo-HCT) using a reduced-intensity conditioning regimen of fludarabine 150 mg/m(2) plus intravenous busulfan 6.4 mg/kg. Both matched sibling (MSD) and unrelated donors (MUD) were allowed.

Phylogenomics reveals an anomalous distribution of USP genes in metazoans.

Members of the universal stress protein (USP) family were originally identified in stressed bacteria on the basis of a shared domain, which has since been reported in a phylogenetically diverse range of prokaryotes, fungi, protists, and plants. Although not previously characterized in metazoans, here we report that USP genes are distributed in animal genomes in a unique pattern that reflects frequent independent losses and independent expansions. Multiple USP loci are present in urochordates as well as all Cnidaria and Lophotrochozoa examined, but none were detected in any of the available ecdysozoan or non-urochordate deuterostome genome data.

Chromosomal distribution of disease genes in the human genome.

Genes are nonrandomly distributed in the human genome, both within and between chromosomes. Thus, genes of similar function and common evolutionary origin are often clustered, as are genes with similar expression profiles. We now report that the >2400 genes known to underlie human monogenic inherited disease are non-randomly distributed in the genome over and above the general nonrandomness evident in the distribution of human genes.

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics.

The number of reported germline mutations in human nuclear genes, either underlying or associated with inherited disease, has now exceeded 100,000 in more than 3,700 different genes. The availability of these data has both revolutionized the study of the morbid anatomy of the human genome and facilitated "personalized genomics." With approximately 300 new "inherited disease genes" (and approximately 10,000 new mutations) being identified annually, it is pertinent to ask how many "inherited disease genes" there are in the human genome, how many mutations reside within them, and where such lesions are likely to be located? To address these questions, it is necessary not only to reconsider how we define human genes but also to explore notions of gene "essentiality" and "dispensability.

Toxicity-evaluation designs for phase I/II cancer immunotherapy trials.

Objectives: To facilitate more efficient Phase I/II cancer immunotherapy trials by incorporating statistically rigorous safety analysis.

Setting: The standard Phase I oncology trial is designed to find the maximum tolerated dose (MTD) in a setting where serious drug-related toxicity is expected. However, many newer agents hope to show the efficacy without increasing the background rate of adverse events.

New tricks with old genes: the genetic bases of novel cnidarian traits.

Recent thought on genome evolution has focused on the creation of new genes and changes in regulatory mechanisms while ignoring the role of selective gene loss in shaping genomes. Using data from two cnidarians, the jellyfish Clytia and the coral Acropora, we examined the relative significance of new 'taxonomically restricted' genes and selectively retained ancestral genes in enabling the evolution of novel traits. Consistent with its more complex life-cycle, the proportion of novel genes identified in Clytia was higher than that in the 'polyp only' cnidarians Nematostella and Hydra, but each of these cnidarians has retained a proportion of ancestral genes not present in the other two.

Effects of genistein in the maternal diet on reproductive development and spatial learning in male rats.

Endocrine disruptors, chemicals that disturb the actions of endogenous hormones, have been implicated in birth defects associated with hormone-dependent development. Phytoestrogens are a class of endocrine disruptors found in plants. In the current study we examined the effects of exposure at various perinatal time periods to genistein, a soy phytoestrogen, on reproductive development and learning in male rats.