bluuebunny/crossref_metadata_2025_split huggingface dataset:
Application of whole‐exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia
Authors: Leinøe Eva , Zetterberg Eva , Kinalis Savvas , Østrup Olga , Kampmann Peter , Norström Eva , Andersson Nadine , Klintman Jenny , Qvortrup Klaus , Nielsen Finn Cilius , Rossing Maria 
Published: July 2017

SummaryRare inherited bleeding disorders (IBD) are a common cause of bleeding tendency. To ensure a correct diagnosis, specialized laboratory analyses are necessary. This study reports the results of an upfront diagnostic strategy using targeted whole exome sequencing. In total, 156 patients with a significant bleeding assessment tool score participated in the study, of which a third had thrombocytopenia. Eighty‐seven genes specifically associated with genetic predisposition to bleeding were analysed by whole exome sequencing. Variants were classified according to the five‐tier scheme. We identified 353 germline variants. Eight patients (5%) harboured a known pathogenic variant. Of the 345 previously unknown variants, computational analyses predicted 99 to be significant. Further filtration according to the Mendelian inheritance pattern, resulted in 59 variants being predicted to be clinically significant. Moreover, 34% (20/59) were assigned as novel class 4 or 5 variants upon targeted functional testing. A class 4 or 5 variant was identified in 30% of patients with thrombocytopenia (14/47) versus 11% of patients with a normal platelet count (12/109) (P < 0·01). An IBD diagnosis has a major clinical impact. The genetic investigations detailed here extricated our patients from a diagnostic conundrum, thus demonstrating that continuous optimization of the diagnostic work‐up of IBD is of great benefit.
Impact of warm ischaemia time on postoperative renal function after partial nephrectomy for clinical T1 renal cell carcinoma: a propensity score‐matched study
Authors: Lee Hakmin , Song Byung D. , Byun Seok‐Soo , Lee Sang E. , Hong Sung K. 
Published: July 2017

ObjectivesTo analyse the effect of prolonged warm ischaemia time (WIT) on long‐term renal function after partial nephrectomy (PN), as controversy still exists as to whether prolonged WIT adversely affects the incidence of chronic kidney disease (CKD) after PN.Patients and MethodsWe reviewed data from 1816 patients who underwent PN for a clinical T1 renal tumour. The propensity scores for prolonged WIT were calculated with the shorter WIT group (<30 min) matched to the longer WIT group (≥30 min) in a 2:1 ratio. Multivariate analysis was used to determine independent predictors for occurrence of postoperative CKD [defined as an estimated glomerular filtration rate (eGFR) of <60 mL/min/1.73 m2] and major renal function deterioration (MRFD; defined as an eGFR decrease of ≥25% postoperatively).ResultsAfter propensity score matching, there was no significant difference in CKD‐free survival between the two WIT groups (P = 0.787). Furthermore, longer WIT did not show any significant associations with postoperative CKD‐free survival [hazard ratio (HR) 1.002, 95% confidence interval (CI) 0.989–1.015; P = 0.765) and MRFD‐free survival (HR 1.014, 95% CI 1.000–1.028; P = 0.055). From further subgroup analyses using more specific WIT thresholds (≤20, 21–30, 31–40, 41–50, ≥50 min) and status of preoperative CKD, no significant differences were noted in CKD and MRFD‐free survival amongst the subgroups (all P > 0.05).ConclusionsProlonged WIT was not associated with increased incidence of CKD or MRFD after PN.
Comparison between target magnetic resonance imaging (MRI) in‐gantry and cognitively directed transperineal or transrectal‐guided prostate biopsies for Prostate Imaging–Reporting and Data System (PI‐RADS) 3–5 MRI lesions
Authors: Yaxley Anna J. , Yaxley John W. , Thangasamy Isaac A. , Ballard Emma , Pokorny Morgan R. 
Published: July 2017

ObjectiveTo compare the detection rates of prostate cancer (PCa) in men with Prostate Imaging–Reporting and Data System (PI‐RADS) 3–5 abnormalities on 3‐Tesla multiparametric (mp) magnetic resonance imaging (MRI) using in‐bore MRI‐guided biopsy compared with cognitively directed transperineal (cTP) biopsy and transrectal ultrasonography (cTRUS) biopsy.MethodsThis was a retrospective single‐centre study of consecutive men attending the private practice clinic of an experienced urologist performing MRI‐guided biopsy and an experienced urologist performing cTP and cTRUS biopsy techniques for PI‐RADS 3–5 lesions identified on 3‐Tesla mpMRI.ResultsThere were 595 target mpMRI lesions from 482 men with PI‐RADS 3–5 regions of interest during 483 episodes of biopsy. The abnormal mpMRI target lesion was biopsied using the MRI‐guided method for 298 biopsies, the cTP method for 248 biopsies and the cTRUS method for 49 biopsies. There were no significant differences in PCa detection among the three biopsy methods in PI‐RADS 3 (48.9%, 40.0% and 44.4%, respectively), PI‐RADS 4 (73.2%, 81.0% and 85.0%, respectively) or PI‐RADS 5 (95.2, 92.0% and 95.0%, respectively) lesions, and there was no significant difference in detection of significant PCa among the biopsy methods in PI‐RADS 3 (42.2%, 30.0% and 33.3%, respectively), PI‐RADS 4 (66.8%, 66.0% and 80.0%, respectively) or PI‐RADS 5 (90.5%, 89.8% and 90.0%, respectively) lesions. There were also no differences in PCa or significant PCa detection based on lesion location or size among the methods.ConclusionWe found no significant difference in the ability to detect PCa or significant PCa using targeted MRI‐guided, cTP or cTRUS biopsy methods. Identification of an abnormal area on mpMRI appears to be more important in increasing the detection of PCa than the technique used to biopsy an MRI abnormality.
Using family and staff experiences of a botulinum toxin‐A service to improve service quality
Authors: Burton K. L. O. , Bau K. , Lewis J. , Aroyan K. R. , Botha B. , Botman A. G. M. , Stewart K. , Waugh M.‐C. A. , Paget S. P. 
Published: July 2017

AbstractBackgroundThe decision for families to proceed with botulinum toxin‐A (BoNT‐A) injections for managing childhood conditions involving hypertonia can be complex. Family‐centred care is a service model that facilitates supporting families in this decision‐making process. Understanding families' experiences of services is critical to developing family‐centred care. The aim of this project was therefore to increase understanding of the experiences of families of children attending a BoNT‐A service in order to improve the service and its family‐centred approach to care.MethodSixteen staff of a BoNT‐A service participated in a patient journey mapping exercise. Nine families of the service participated in in‐depth interviews. Interviews were audio‐recorded and transcribed verbatim. Data from the staff session and interviews were analysed independently using grounded, hermeneutic thematic analysis.ResultsStaff sessions revealed 5 core themes that related to impacting on the family experience. Family interviews revealed 4 core themes, with 7 subthemes and 1 latent theme.ConclusionsAreas of importance identified by families relating to BoNT‐A treatment included acknowledgement of individual needs, care coordination, empowerment of families and patients, consistency in service delivery, and the distressing nature of appointment and decision‐making. Comparison of the data from the staff patient journey mapping and family interviews suggested that staff have a good but incomplete understanding of the factors important to families, highlighting the need for consumer engagement in establishing family‐centred care. The themes identified can guide the provision of family‐centred BoNT‐A injection clinics.
Intellectual Property Rights and Canadian Wheat Breeding for the 21st Century
Authors: Gray Richard S. , Kingwell Ross Stephen , Galushko Viktoriya , Bolek Katarzyna 
Published: July 2017

AbstractAlthough wheat is the largest field crop in Canada, the intellectual property rights for the self‐pollinated, nongenetically modified crop have been too weak to allow significant royalty flow to plant breeders. The sector heavily relies on resource‐constrained public breeding programs for new variety development. This long‐standing situation could change with the 2015 Agricultural Growth Act, which strengthens Canadian plant breeders’ rights to be consistent with the UPOV 91 convention. We explore the potential implications for Canada by examining the experience with UPOV 91 implementation in the United Kingdom, France, and Australia. Using the royalty structures in these countries as potential pathways for Canada, an ex ante benefit–cost framework is used to illustrate the choice of pathway is important. Over a 40‐year period, the Australian, French, and U.K. implementation pathways generate 4.8, 4.0, and 1.5 $CDN billion in net benefit (respectively) over the status quo. Over shorter time horizons of 20 and 30 years, France is quicker to establish uniform endpoint royalties that provide the highest net benefits. Proactive industry engagement to develop a more robust royalty collection system is required to realize these potential benefits.
Coronary artery calcium may stabilize following islet cell transplantation in patients with type 1 diabetes
Authors: Madrigal Jessica M. , Monson Rebecca S. , Hatipoglu Betul , Oberholzer José , Kondos George T. , Varady Krista A. , Danielson Kirstie K. 
Published: July 2017

AbstractIslet cell transplantation can functionally cure type 1 diabetes and also improve carotid intima‐media thickness. This study provides a preliminary description of changes in coronary artery calcium following islet transplantation, and associated factors. Coronary artery calcium was measured in 14 patients with type 1 diabetes (11 had measures both pre‐ and post‐transplant [mean 2.3 years]) in the University of Illinois at Chicago's clinical trial. Multivariable mixed‐effects linear regression of repeated measures was used to quantify calcium change and determine if this change was longitudinally associated with risk/protective factors. Thirteen of the patients were female, with mean baseline age, diabetes duration, and BMI of 47.6 and 28.7 years, and 23.1, respectively. Over half (57%) had detectable coronary artery calcium pre‐transplant. Minimal change (0.39 mm3/y, P = .02) occurred in coronary artery calcium levels pre‐ to post‐transplant. No patient met criteria for calcium progression. Coronary artery calcium was positively associated with total and small VLDL particles (P ≤ .02), statin dose (P = .02), and urine albumin‐to‐creatinine ratio (P = .04) and negatively associated with free fatty acids (P = .03), total HDL (P = .03), large HDL particles (P = .005), and tacrolimus dose (P = .02). Islet transplant may stabilize coronary artery calcium, with optimal management of lipids and kidney function remaining key therapeutic targets. [NCT00679041].
The Regional Coordination of Strikes and the Challenge for Union Reform in Vietnam
Authors: Do Quynh Chi 
Published: July 2017

ABSTRACTSince the launch of the economic reform (Doi Moi) policy in the early 1990s, the union system of Vietnam has seen little change: the Vietnam General Confederation of Labour (VGCL) retains its monopoly, its political affiliation to and reliance on the Communist Party, while at the workplace, the VGCL‐affiliated enterprise unions are too dependent on the management to represent workers’ rights and interests. ‘Collective bargaining by riots’ has become the only way for rank‐and‐file workers to improve their working conditions. This article draws on more than a decade of research to show that informal organization of workers in some companies has grown to such an extent that the de facto leaders initiate bargaining with the employers and, when negotiations fail, they organize strikes. These strikes are usually settled in favour of the workers, causing a change in wage levels and leading to spontaneous ‘copycat’ strikes in neighbouring companies. This informal coordination of strikes across workplaces not only aims at achieving economic goals such as wage rises but has recently been used to express workers’ discontent with government policy. The nature of the strike waves has shifted gradually from economic to political; together with external pressure, this has pushed the top leadership of Vietnam to initiate serious trade union reform.
International Allies, Institutional Layering and Power in the Making of Labour in Bangladesh
Authors: Zajak Sabrina 
Published: July 2017

ABSTRACTThis contribution discusses trajectories of labour power in the making. Taking a practice theory perspective on power, and focusing on the Accord on Fire and Building Safety in Bangladesh, the author asks how Bangladeshi trade unions are attempting to use changes in the industrial landscape after the factory collapse of Rana Plaza in 2013 to constitute different power sources. The article challenges assumptions in power resource theories that associational, institutional and social‐cultural power are pre‐existing factors, arguing that trade unions have to co‐construct and enact those power sources in order for them to become meaningful. The article contributes to the debate on Networks of Labour Activism (NOLA) by showing that networked interactions with global unions and other labour support organizations help to construct power in an incremental way through information sharing, claim reframing, increasing social recognition, and the construction of a ‘shadow of protection’ for trade unions. But it also points out new limitations resulting from managerial and political resistance, which aims to contain and reverse the growing power of labour. The Bangladesh Accord is a double‐edged sword: on the one hand it provides unions with new opportunities for developing strategic capabilities, while on the other hand it is used by powerful domestic actors to discredit trade unions and mobilize workers against the constraints of the Accord.
Modulation of the activated protein C pathway in severe haemophilia A patients: The effects of thrombomodulin and a factor V‐stabilizing fab
Authors: Brophy D. F. , Martin E. J. , Mohammed B. M. , Barrett J. C. , Kuhn J. G. , Nolte M. E. , Wiinberg B. , Holmberg H. L. , Lund J. , Salbo R. , Waters E. K. 
Published: July 2017

IntroductionThe thrombomodulin (TM)/activated protein C (APC) system is a key regulator of haemostasis, limiting amplification and propagation of the formed blood clot to the injury site. Dampening APC's inhibition of factor V (FV) and factor VIII (FVIII) may be a future strategy in developing next‐generation therapeutic targets for haemophilia treatment.AimsTo determine ex vivo the respective concentration‐dependent effects of TM and a FV‐stabilizing Fab on the APC regulatory pathway in severe FVIII‐deficient blood and plasma.MethodsTen severe haemophilia A subjects and one healthy control were enrolled. Blood was spiked with TM (0, 1, 2.5, 5, 10, 20.0 nmol/L) and FV‐stabilizing Fab (0, 3, 15, 65, 300 nmol/L). The respective effects were compared to FVIII concentrations of 3‐ and 10% using rotational thromboelastometry clotting time (CT) and thrombin generation analysis (TGA).ResultsWith 1 and 2.5 nmol/L TM, 5% FVIII resulted in CT similar to the absence of TM, suggesting it completely reversed the effect of APC. Increasing TM concentrations also reduced peak thrombin generation and ETP. The addition of 300 nmol/L FV‐stabilizing Fab returned CT to nearly baseline, but for most subjects was less than the effects of 3‐ or 10% FVIII. The FV‐stabilizing Fab produced similar or greater thrombin generation compared to samples with 3‐ or 10% FVIII.ConclusionsThe FV‐stabilizing Fab resulted in enhanced CT and TGA parameters consistent with FVIII levels of 3‐ and 10%. Additional studies need to further characterize how modulating the APC pathway may prove beneficial in developing new haemophilia drug targets.
How nurses cope with patient death: A systematic review and qualitative meta‐synthesis
Authors: Zheng Ruishuang , Lee Susan Fiona , Bloomer Melissa Jane 
Published: July 2017

Aims and objectivesTo review literature on nurses’ coping strategies with patient death.BackgroundDealing with the loss of a patient was viewed as one of the most demanding and challenging encounters in clinical practice. Those nurses who are not competent in coping with patient death may be inadequate in supporting dying patients and their family members, and minimise the quality of end‐of‐life care. To get a broader understanding of how nurses cope with patient death and to develop meaningful and effective interventions, a systematic review which would help underpin the multidimensional approaches is needed.DesignA systematic review.MethodsExhaustive searching in ten databases: CINAHL Plus, EMBASE, MEDLINE, AMED, PsycINFO, ProQuest Health & Medical Complete, ProQuest Dissertations & Theses Global, Google Scholar, EThOS and CareSearch. Meta‐aggregation was used to synthesise the findings of the included studies.ResultsThis systematic review aggregated ten categories from the sixteen qualitative studies included, and then two synthesised findings were derived: intrinsic resources and extrinsic resources. The intrinsic resources consisted of setting boundaries, reflection, crying, death beliefs, life and work experience, and daily routines and activity. The extrinsic resources were comprised of talking and being heard, spiritual practices, education and programmes, and debriefing.ConclusionThis systematic review synthesised the findings about what resources nurses use when coping with patient death and made recommendations on future directions. Areas which could be developed to improve deficiencies that nurses had when faced with the losses of their patients were identified. Nurses need more support resources, which better assist them in coping with patient death.Relevance to clinical practiceThe results of this systematic review could provide evidence for nurses’ coping strategies when dealing with patient death, and the recommendations could be employed by nurses to cope with the losses of patients.
Pediatric intracerebral histiocytic sarcoma with rhabdoid features: Case report and literature review
Authors: Kim Young Hye , Yie Gie‐Taek , Kim Na Rae , Jeon In‐Sang , Cho Hyun Yee , Seok Jae Yeon , Kim Eung Yeop , Lee Kyu Chan 
Published: July 2017

A 16‐year‐old boy presented with marked weight loss, weakness of the left extremities and dizziness of 2 months duration and vomiting for 2 days. Brain MRI showed an approximately 6.5 × 5.3 cm‐sized huge heterogeneous enhancing mass located in the corpus callosum, extending into the lateral ventricle. Open biopsy showed that the lesion consisted of lymphoplasmacytes and plump histiocytes with rhabdoid morphology, which were stained with S‐100 protein, CD68 (KP1) and negative for CD1a. Histiocytic tumor was initially diagnosed. Chemotherapy using methotrexate, 6‐mercaptopurine, vinblastine, interferon‐alpha and dexamethasone was performed. After 5 months, partial removal was done. Microscopically, plump and bizarre tumor cells as well as rhabdoid features were found. Occasional spindle cells and necrosis were also found. These cells were positive for CD163, CD68, lysozyme, CD4, INI‐1 and BRG1. BRAF V600E mutation was detected. The lesion was finally diagnosed as histiocytic sarcoma. Radiotherapy (6000 cGy in 30 fractions) was done. Both cerebral and extracerebral histiocytic sarcomas have long been diagnosed by unclarified criteria; its rarity as well as previously unclarified criteria can easily lead to a misinterpretation. Histiocytic sarcoma of the CNS is exceptionally rare in children, associated with an exceptionally poor prognosis. To date, only seven cases of pediatric cerebral histiocytic sarcomas have been reported. The present case is the first pediatric case showing BRAF V600E‐mutated intracerebral histiocytic sarcoma.
Ricochet pollination in Senna (Fabaceae) – petals deflect pollen jets and promote division of labour among flower structures
Authors: Amorim T. , Marazzi B. , Soares A. A. , Forni‐Martins E. R. , Muniz C. R. , Westerkamp C. 
Published: July 2017

Abstract

Naturalists Fritz and Hermann Müller hypothesised that heteranthery often leads to a division of labour into ‘feeding’ and ‘pollinating’ stamens; the latter often being as long as the pistil so as to promote successful pollination on the bees’ back. In many buzz‐pollinated species of Senna, however, the so‐called pollinating stamens are short and not level with the stigma, raising the question of how pollen is shed on the bees’ back. Here we explore a mechanism called ‘ricochet pollination’. We test whether division of labour is achieved through the interaction between short lower stamens and strongly concave ‘deflector petals’.

We studied the arrangement and morphology of the floral organs involved in the ricochet pollination, functioning of the flowers through artificial sonication and observed the interactions between bees and flowers in the field.

The middle stamens are adapted to eject pollen downwards, which can be readily collected on the bee mid legs. Most of the pollen is ejected towards the deflector petal(s). Pollen from this set of stamens is more likely to contribute to pollination. The pollen grains seem to ricochet multiple times against the deflector petals to eventually reach the bee's back.

The pollen ricochet mechanism promotes a division of labour by involving additional floral organs, such as petals, reinforcing the Müllers’ division‐of‐labour hypothesis. However, alternative, non‐multiexclusive hypotheses could be explored in genus Senna and other angiosperm species.
The ALDH21 gene found in lower plants and some vascular plants codes for a NADP+‐dependent succinic semialdehyde dehydrogenase
Authors: Kopečná Martina , Vigouroux Armelle , Vilím Jan , Končitíková Radka , Briozzo Pierre , Hájková Eva , Jašková Lenka , von Schwartzenberg Klaus , Šebela Marek , Moréra Solange , Kopečný David 
Published: July 2017

SummaryLower plant species including some green algae, non‐vascular plants (bryophytes) as well as the oldest vascular plants (lycopods) and ferns (monilophytes) possess a unique aldehyde dehydrogenase (ALDH) gene named ALDH21, which is upregulated during dehydration. However, the gene is absent in flowering plants. Here, we show that ALDH21 from the moss Physcomitrella patens codes for a tetrameric NADP+‐dependent succinic semialdehyde dehydrogenase (SSALDH), which converts succinic semialdehyde, an intermediate of the γ‐aminobutyric acid (GABA) shunt pathway, into succinate in the cytosol. NAD+ is a very poor coenzyme for ALDH21 unlike for mitochondrial SSALDHs (ALDH5), which are the closest related ALDH members. Structural comparison between the apoform and the coenzyme complex reveal that NADP+ binding induces a conformational change of the loop carrying Arg‐228, which seals the NADP+ in the coenzyme cavity via its 2′‐phosphate and α‐phosphate groups. The crystal structure with the bound product succinate shows that its carboxylate group establishes salt bridges with both Arg‐121 and Arg‐457, and a hydrogen bond with Tyr‐296. While both arginine residues are pre‐formed for substrate/product binding, Tyr‐296 moves by more than 1 Å. Both R121A and R457A variants are almost inactive, demonstrating a key role of each arginine in catalysis. Our study implies that bryophytes but presumably also some green algae, lycopods and ferns, which carry both ALDH21 and ALDH5 genes, can oxidize SSAL to succinate in both cytosol and mitochondria, indicating a more diverse GABA shunt pathway compared with higher plants carrying only the mitochondrial ALDH5.