bluuebunny/crossref_metadata_2025_split huggingface dataset:
Effects of oxidative stress on red blood cell rheology in sickle cell patients
Authors: Hierso Régine , Waltz Xavier , Mora Pierre , Romana Marc , Lemonne Nathalie , Connes Philippe , Hardy‐Dessources Marie‐Dominique 
Published: April 2014

SummarySickle cell anaemia (SS) and sickle cell‐haemoglobin C disease (SC) patients exhibit severe red blood cell (RBC) rheological alterations involved in the development of several complications. The contribution of oxidative stress in these haemorheological abnormalities is still unknown. We compared RBC reactive oxygen species (ROS) and glutathione (GSH) content, and the haemorheological profile of SS (n = 11), SC (n = 11) and healthy subjects (n = 12) at baseline and after in‐vitro treatment with t‐butyl hydroperoxide (TBHP). We showed: (i) higher RBC ROS content in SS and SC patients, with the highest level observed in SS patients; (ii) lower RBC GSH content in sickle syndrome patients, especially in SS patients; (iii) TBHP increased RBC ROS production and decreased RBC GSH content in all groups; (iv) TBHP decreased RBC aggregation and increased the strength of RBC aggregates in all groups but the increase in RBC aggregates strength was greater in sickle cell patients; (v) TBHP decreased RBC deformability in the three groups but with a higher magnitude in sickle cell patients. These data suggest that RBCs from sickle cell patients have an exaggerated response to oxidative stress, which is accompanied by a profound abnormal haemorheological profile, with greater alterations in SS than in SC patients.
Evaluation of the validity of Hb A2 and mean corpuscular haemoglobin action values in antenatal screening for beta thalassaemia carriers in England
Authors: Daniel Yvonne , Cartwright Ronwyn , Rennie Kristian , Streetly Allison , Howard Jo 
Published: April 2014

SummaryNational antenatal screening of all pregnant women in England is carried out using standards and guidelines produced by the National Health Service Sickle Cell and Thalassaemia Screening Programme. The algorithms for detection of beta thalassaemia carrier status rely on action criteria, which are set using the percentage Hb A2 and mean corpuscular haemoglobin (MCH) values. Three groups of samples: MCH <27 pg and Hb A2 3·5–3·9%, MCH ≥27 pg and Hb A2 4–4·3% and MCH ≥27 pg and Hb A2 3·5–3·9% were selected from a sample population of 59 500 to assess the validity and predictive value of the action criteria – 25 false positives (0·042% of total) and nine false negatives (0·015% of total) were detected. These findings support the continuation of the current action values.
Assessing the quality of life of children with sickle cell anaemia using self‐, parent‐proxy, and health care professional‐proxy reports
Authors: Constantinou Christina , Payne Nicola , Inusa Baba 
Published: April 2014

ObjectivesThe quality of life (QoL) of children with sickle cell anaemia (SCA) in the United Kingdom has not been examined, and a discrepancy measure based on Gap theory has rarely been used. This study investigated whether (1) child self‐reports of QoL using a discrepancy measure (the Generic Children's QoL Measure; GCQ) are lower than those from healthy children, (2) proxy reports from parents and health care professionals are lower than child self‐reports, and (3) demographic and disease severity indicators are related to QoL.Design and methodsAn interdependent groups, cross‐sectional design was implemented. Seventy‐four children with SCA, their parent, and members of their health care team completed the GCQ. Demographic and disease severity indicators were recorded. GCQ data from healthy children were obtained from the UK Data Archive.ResultsContrary to past research, when examining generic discrepancy QoL, children with SCA did not report a lower QoL than healthy children, and parent‐ and health care professional‐proxy reports were not lower than child self‐reports. Few of the demographic and disease severity indicators were related to QoL.ConclusionsProxy reports may be used to gain a more complete picture of QoL, but should not be a substitute for self‐reports. The explanation for the relatively high levels of QoL reported is not clear, but children with SCA may have realistic expectations about their ideal‐self, place greater emphasis on aspects other than health in shaping their QoL, and define achievements within the limits of their illness. Future research should focus on psychological factors in explaining QoL.
Statement of contribution

What is already known on this subject?

Children with sickle cell disease (SCD) generally have a reduced QoL compared with healthy children, but there appears to be no research measuring QoL in paediatric SCD in the United Kingdom.

Proxy QoL reports from parents are often lower than child self‐reports, but there is less research examining proxy reports from health care professionals.

Previous research has measured paediatric QoL using measures of current health‐related QoL, but this is not in line with the WHO's definition of QoL as the discrepancy between current state and expectations.

What does this study add?

Children with Sickle cell anaemia do not have an impaired discrepancy QoL; they may have realistic expectations about their ideal‐self and define achievements within the limits of their illness.

Health care professionals are able to gauge a SCA child's discrepancy QoL better than parents.

The GCQ (a generic discrepancy measure of QoL) takes into account expectations about ideal QoL and does not emphasize health; it may be of use to Psychologists working with SCA children.
Possible association of maternal factors with the higher risk of isolated true undescended testis: A population‐based case‐control study
Authors: Mavrogenis Stelios , Urban Róbert , Czeizel Andrew E. , Ács Nándor 
Published: April 2014

AbstractThe objective of the study was to evaluate the possible association of maternal factors with the risk of isolated true undescended testis (ITUT) diagnosed at the third postnatal month because our knowledge is limited regarding the origin of ITUT. Acute and chronic diseases with related drug treatments were compared in the mothers of 2052 cases with ITUT, 24 814 male controls without any defects and 12 082 malformed male controls with other isolated defects in the population‐based large dataset of the Hungarian Case‐Control Surveillance of Congenital Abnormalities, 1980–1996. Prospective medically recorded endometriosis before conception of the study pregnancy in the mothers of 39 cases was associated with a higher risk of ITUT in their sons (odds ratio (OR) with 95% confidence interval [CI]: 2.42, 1.71–3.42). Dihydrogesterone treatment in the first trimester of pregnancy also showed association with the higher risk of ITUT but based on only five pregnant women. In conclusion, endometriosis before pregnancy may have a role in the origin of ITUT.
Seeking genes responsible for developmental origins of health and disease from the fetal mouse liver following maternal food restriction
Authors: Ogawa Tetsuo , Shibato Junko , Rakwal Randeep , Saito Tomomi , Tamura Gaku , Kuwagata Makiko , Shioda Seiji 
Published: April 2014

AbstractLow birthweight resulting from a non‐optimal fetal environment is correlated epidemiologically to a higher risk of adult diseases, and which has also been demonstrated using animal models for maternal undernutrition. In this study, we subjected pregnant mice to 50% food restriction (FR), and profiled gene expression and promoter DNA methylation genome‐wide using the fetal livers. The fact that effect of food restriction is opposite between before and after birth encouraged us to hunt for genes that are expressed oppositely to adult calorie restriction (CR) using the maternal livers. Among oppositely regulated genes, we identified trib1 (tribbles homolog 1). Using genetically modified mice, trib1 has been shown to have a demonstrable contribution to a risk of hypertriglyceridaemia and insulin resistance. Our data showed that the trib1 expression and its promoter DNA methylation could be affected physiologically (by maternal nutrition), and therefore might be a strong candidate gene for developmental origins of adult diseases. Furthermore, lepr (leptin receptor) gene was downregulated by maternal FR, indicating its potential role in induction of obesity and diabetes. Gene expression as well as promoter DNA methylation profiling revealed that glucocorticoid receptor target genes were regulated by maternal FR. This supports previous studies that suggest an important role of fetal glucocorticoid exposure in the mechanism of developmental origins of diseases. Our transcriptomics profiling data also suggested that maternal FR impaired development of the immune system. An inventory of candidate genes responsible for developmental origins of health and disease is presented and discussed in this study.
Communicating About Invasive Species: How “Driver” and “Passenger” Models Influence Public Willingness to Take Action
Authors: Hart P. Sol , Larson Brendon M. H. 
Published: April 2014

AbstractInvasive species may be viewed as “passengers” that spread in response to environmental changes rather than “drivers” of ecological impacts. To date, however, there has been no examination of how these alternative models affect public risk perception, sense of responsibility, and willingness to take action. We report on an experimental study of how these models affected respondents’ (N= 456) willingness to take action to address two invasive species: tamarisk and garlic mustard. We found that the traditional driver model, compared to the passenger model, increased perception of risk to humans and the environment, both of which contributed to willingness to take action. The driver model, however, also decreased personal causal responsibility, though only when human responsibility for introduction was not mentioned. Our findings suggest that these alternative models create trade‐offs for communication that necessitate contextual framing that attends to audience sense of risk and responsibility.
Lung transplantation following hematopoietic stem cell transplantation: report of two cases and systematic review of literature
Authors: Soubani Ayman O. , Kingah Pascal , Alshabani Khaled , Muma Gilbert , Haq Athar 
Published: April 2014

AbstractBackgroundNon‐infectious pulmonary complications following hematopoietic stem cell transplantation (HSCT) are major cause of morbidity and mortality with limited treatment options. Lung transplantation (LT) has been rarely reported as a treatment option for selected HSCT recipients with these problems.ObjectiveDescribe the outcome of HSCT recipients who underwent LT.MethodsTwo cases of LT following HSCT from our institution are presented. Cases reported in literature were identified using English language PubMed/MEDLINE with keywords hematopoietic stem cell transplantation, bone marrow transplantation, or bronchiolitis obliterans cross‐referenced with lung transplantation. We extracted data on baseline characteristics and survival data following LT.ResultsTotal of 84 patients are analyzed. Age at time of LT was median of 22 yr (range 1–66). Seventy‐nine patients were recipients of allogeneic HSCT. The indications for LT were bronchiolitis obliterans syndrome (BOS; 63 patients), pulmonary fibrosis (13 patients), BOS/pulmonary fibrosis (five patients), and graft‐versus‐host‐disease (GVHD) of lung (three patients). The median time between HSCT and LT was 52.3 months (range 6–240). The median follow‐up after LT was 36 months (range 0–168). During this time, BOS was documented in 25 patients. Relapse of hematological malignancy was reported in two patients, and new malignancy developed in four patients. At the end of follow‐up, 60 patients were alive and 24 patients died. The probability of survival following LT at 24 and 36 months was 0.88 (95% CI 0.78–0.93) and 0.79 (95% CI 0.67–0.87), respectively.ConclusionLT is a potential therapeutic option in selected patients with severe chronic pulmonary disease following HSCT. Further studies are needed to determine the appropriate timing and the outcome of this approach.
Gastrointestinal side effects in liver transplant recipients taking enteric‐coated mycophenolate sodium vs. mycophenolate mofetil
Authors: Lopez‐Solis Roberto , DeVera Michael , Steel Jennifer , Fedorek Sheila , Sturdevant Mark , Hughes Christopher , Humar Abhinav 
Published: April 2014

AbstractIn the setting of liver transplantation, mycophenolate mofetil (MMF) may be used as an adjuvant therapy for immunosuppression to prevent graft rejection; however, its use may be limited due to severe gastrointestinal (GI) side effects. In contrast, enteric‐coated mycophenolate sodium (EC‐MPS) may be associated with less severe side effects and hence better tolerability. We compared the side effects of EC‐MPS to MMF in liver transplant patients in a de novo study (Study I—randomized, prospective, double‐blinded) and a conversion study (Study II). In both studies, the severity of GI symptoms was assessed at various time points using the Gastrointestinal Symptoms Rating Scale (GSRS) survey, a validated survey of GI symptoms (abdominal pain, reflux, indigestion, diarrhea, and constipation). In Study I, the symptoms of 30 recipients receiving EC‐MPS (n = 15) were compared to 15 recipients receiving MMF. A multivariate analysis of variance (MANOVA) of the total GSRS scores and symptom syndrome subscores revealed no significant difference (p > 0.05) between the two medications over time. A conversion study (Study II) with 29 participants, however, showed that over time, all GI symptoms improved significantly (p < 0.001) when the patients were treated with EC‐MPS instead of MMF.
Learning to imitate individual finger movements by the human neonate
Authors: Nagy Emese , Pal Attila , Orvos Hajnalka 
Published: April 2014

AbstractImitation in human neonates, unlike imitation in young infants, is still regarded as controversial. Four studies with 203 newborns are presented to examine the imitation of index finger, two‐ and three‐finger movements in human neonates. Results found differential imitations of all three modelled gestures, a left‐handed pattern, and a rapid learning mechanism. The lateralized behavioural pattern suggests the involvement of a right lateralized neural network, and the mechanisms described in this study – (i) the accurate imitation of all aspects of the model's movements, (ii) the rapid learning component, and the (iii) the early sensitive period might fulfil the criteria for filial imprinting.
Teaching moral reasoning through gesture
Authors: Beaudoin‐Ryan Leanne , Goldin‐Meadow Susan 
Published: April 2014

AbstractStem‐cell research. Euthanasia. Personhood. Marriage equality. School shootings. Gun control. Death penalty. Ethical dilemmas regularly spark fierce debate about the underlying moral fabric of societies. How do we prepare today's children to be fully informed and thoughtful citizens, capable of moral and ethical decisions? Current approaches to moral education are controversial, requiring adults to serve as either direct (‘top‐down’) or indirect (‘bottom‐up’) conduits of information about morality. A common thread weaving throughout these two educational initiatives is the ability to take multiple perspectives – increases in perspective taking ability have been found to precede advances in moral reasoning. We propose gesture as a behavior uniquely situated to augment perspective taking ability. Requiring gesture during spatial tasks has been shown to catalyze the production of more sophisticated problem‐solving strategies, allowing children to profit from instruction. Our data demonstrate that requiring gesture during moral reasoning tasks has similar effects, resulting in increased perspective taking ability subsequent to instruction.A video abstract of this article can be viewed at http://www.youtube.com/watch?v/gAcRIClU_GY
The centipede Strigamia maritima possesses a large complement of Wnt genes with diverse expression patterns
Authors: Hayden Luke , Arthur Wallace 
Published: April 2014

SUMMARYThe genes of the Wnt family play important roles in the development of many animals. In the arthropods, these genes are known to have multiple functions, including roles in posterior development and segmentation. Despite this, secondary loss of Wnt genes is common among the Arthropoda. Unlike many arthropods, Strigamia maritima, a geophilomorph centipede, possesses a large complement of Wnt ligands, with 11 Wnt genes present. In this study, the expression of each of these genes was examined across a range of stages during embryonic development. The expression of Wnt genes in Strigamia displays much variability. Most Wnt genes are expressed in segmental stripes in the trunk; near the proctodeum; and in the head region. However, despite this overall broad similarity, there are many differences between the various Wnt genes in their exact patterns of expression. These data should be considered in the context of different hypotheses regarding the functional relationships between the Wnt genes and the degree of redundancy present in this system. The findings of this study are consistent with one particular model of Wnt activity, the combinatorial model, whereby the combination of Wnt ligands present in a particular region defines its identity. These findings should also be useful in attempts to reconstruct the evolutionary history of Wnt signaling in arthropods.
Paroxysmal nocturnal hemoglobinuria: a singleSpanish center's experience over the last 40 yr
Authors: Muñoz‐Linares Cristina , Ojeda Emilio , Forés Rafael , Pastrana Miguel , Cabero Martín , Morillo Daniel , Bautista Guiomar , Baños Isolina , Monteserín Carmen , Bravo Pilar , Jaro Esther , Cedena Teresa , Steegmann Juan Luis , Villegas Ana , Cabrera José Rafael 
Published: April 2014

AbstractParoxysmal nocturnal hemoglobinuria (PNH) is a rare clonal disease. To date, many reviews and series have been described. We report the experience of our center by presenting a review of 56PNHpatient cases with an average age at diagnosis of 38 yr and follow‐ups beginning at approximately 40 yr; the median survival rate was 11 yr. The average clonal size upon diagnosis was 48%, presenting a variable evolution. Thrombotic episodes and cancer were five each, and the main causes of death among our patients were equal at 8.9%. Radiological study by magnetic resonance imaging is presented as a fundamental technique for estimating the deposit of iron levels in the liver and kidney, as well as in some decisive cases at the start of eculizumab therapy. Sixteen patients have been treated with eculizumab so far in our series, and being a safe drug, it provides improvement in the patients' quality of life, and the disappearance of clinical symptoms, and avoids the emergence of new thrombosis.
The TIR‐domain‐containing adapter inducing interferon‐β‐dependent signaling cascade plays a crucial role in ischemia–reperfusion‐induced retinal injury, whereas the contribution of the myeloid differentiation primary response 88‐dependent signaling cascade is not as pivotal
Authors: Dvoriantchikova Galina , Santos Andrea Rachelle C. , Danek Dagmara , Dvoriantchikova Xenia , Ivanov Dmitry 
Published: April 2014

AbstractToll‐like receptor 4 (Tlr4) plays an important role in ischemia–reperfusion (IR)‐induced retinal inflammation and damage. However, the role of two Tlr4‐dependent signaling cascades, myeloid differentiation primary response 88 (Myd88) and TIR‐domain‐containing adapter inducing interferon‐β (Trif), in retinal IR injury is poorly understood. In this study, we investigated the contribution of the Myd88‐dependent and Trif‐dependent signaling cascades in retinal damage and inflammation triggered by IR, by using Myd88 knockout (Myd88KO) and Trif knockout (TrifKO) mice. Retinal IR injury was induced by unilateral elevation of intraocular pressure for 45 min by direct corneal cannulation. To study IR‐induced retinal ganglion cell (RGC) death in vitro, we used an oxygen and glucose deprivation (OGD) model. Our data suggested that Myd88 was present in many retinal layers of sham‐operated and ischemic mice, whereas Trif was mainly present in the ganglion cell layer (GCL). The level of Myd88 was increased in the retina after IR. We found that retinas of TrifKO mice had a significantly reduced neurotoxic pro‐inflammatory response and significantly increased survival of the GCL neurons after IR. Although Myd88KO mice had relatively low levels of inflammation in ischemic retinas, their levels of IR‐induced retinal damage were notably higher than those of TrifKO mice. We also found that Trif‐deficient RGCs were more resistant to death induced by OGD than were RGCs isolated from Myd88KO mice. These data suggested that, as compared with the Myd88‐dependent signaling cascade, Trif signaling contributes significantly to retinal damage after IR.
MC1R and NR4A receptors in cellular stress and DNA repair: implications for UVR protection
Authors: Yin Kelvin , Sturm Richard A. , Smith Aaron G. 
Published: April 2014

AbstractUltraviolet radiation (UVR) is the most common mutagen that melanocytes are exposed to. UVR causes a diverse range of DNA photolesions contributing to genome instability and promotes melanoma and non‐melanoma development. Melanocytes are pigment‐producing cells that synthesise the photoprotective melanins when the melanocortin‐1 receptor (MC1R) is activated. MC1R is a G‐protein‐coupled receptor expressed predominantly in melanocytes. Its signalling pathway has been directly linked to melanogenesis, enhanced cytoprotection against UV damage and augmented DNA repair response. Interestingly, previous studies have revealed that MC1R signalling induces the transcription of the NR4A subfamily of orphan nuclear receptors in response to UV. In line with this, studies have also observed that NR4A receptors are recruited to distinct nuclear foci in response to cellular stress, independent of their transcriptional roles. Here, we review the regulated expression of NR4A2 and its potential roles upon cellular stress conditions. Current work in developing synthetic NR4A2 agonists further provides exciting avenues for exploring the potential role of NR4A2 as an antiskin cancer drug target.
Comparison of structure and organization of cutaneous lipids in a reconstructed skin model and human skin: spectroscopic imaging and chromatographic profiling
Authors: Tfayli Ali , Bonnier Franck , Farhane Zeineb , Libong Danielle , Byrne Hugh J. , Baillet‐Guffroy Arlette 
Published: April 2014

AbstractThe use of animals for scientific research is increasingly restricted by legislation, increasing the demand for human skin models. These constructs present comparable bulk lipid content to human skin. However, their permeability is significantly higher, limiting their applicability as models of barrier function, although the molecular origins of this reduced barrier function remain unclear. This study analyses the stratum corneum (SC) of one such commercially available reconstructed skin model (RSM) compared with human SC by spectroscopic imaging and chromatographic profiling. Total lipid composition was compared by chromatographic analysis (HPLC). Raman spectroscopy was used to evaluate the conformational order, lateral packing and distribution of lipids in the surface and skin/RSM sections. Although HPLC indicates that all SC lipid classes are present, significant differences are observed in ceramide profiles. Raman imaging demonstrated that the RSM lipids are distributed in a non‐continuous matrix, providing a better understanding of the limited barrier function.