bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants
Authors: Agrawal Neha , Kumar Ravi , Masih Suzena , Srivastava Priyanka , Singh Parshw , Jaiswal Sushil Kumar , Moirangthem Amita , Saxena Deepti , Phadke Shubha R. , Mandal Kausik 
Published: September 2021

AbstractIntroductionHemophilia B is associated with molecular heterogeneity, with more than 1200 unique variants in the F9 gene. We hereby describe the mutational spectrum of severe hemophilia B patients presenting in a tertiary‐care center in India.MethodDNA was extracted from peripheral blood samples of 35 diagnosed severe hemophilia B patients belonging to 32 families, and were subjected to Sanger sequencing. Determination of the effect of novel variants on the protein structure and correlation between genotype and phenotype was attempted using in‐silico tools.ResultsTwenty‐seven different mutations were detected in 30 probands, including 20 known and 7 novel variants. Also, we found one suspected case of whole gene deletion. The serine peptidase domain harbored most of the variants (48.1%). Inhibitory antibodies were found in two patients.ConclusionsThis study provides a comprehensive mutational spectrum and mutation screening strategy by Sanger sequencing of F9 gene in severe hemophilia B patients, in a resource‐constraint setting.
Virtual care and the impact of COVID‐19 on nursing: A single centre evaluation
Authors: Hughes Luke , Petrella Anika , Phillips Natasha , Taylor Rachel M. 
Published: September 2021

AbstractAimsThe overall aim of this evaluation was to look at the impact of the changes in working practices during the pandemic on nurses. This secondary analysis provided an evaluation of virtual care and being able/required to work from home.DesignThis was secondary analysis of an evaluation using semi‐structured interviews.MethodsConducted at a single National Health Service (NHS) university hospital in the United Kingdom between May and July 2020. Forty‐eight operational leads and nurses participated in semi‐structured interviews which were digitally recorded, transcribed verbatim and analysed using a framework analysis.ResultsTwo overarching themes emerged relating to the patient experience and nursing experience. There were both positive and negative elements associated with virtual care and remote working related to these themes. However, the majority of nurses found that virtual clinics were useful when proper resources were provided, and managerial strategies were put in place to support them. Participants felt that virtual care could benefit many but not all patient groups moving forward, and that flexibility around working from home would be desirable in the future.ConclusionVirtual care and remote working were implemented to accommodate the restrictions imposed because of the pandemic. The benefits of these changes to nurses and patients support these being business as usual. However, clear policies are needed to ensure that nurses feel supported when working remotely and there are robust assessments in place to ensure virtual care is provided to patients who have access to the necessary technology.ImpactThis was a study of the move to virtual care and remote working during the COVID‐19 pandemic. Telemedicine and flexible working were not common in the NHS prior to the pandemic but the current evaluation supports the role out of these as standard care with policies in place to ensure that nurses and patients are appropriately supported.
Development and psychometric testing of the Reality Shock Scale for newly graduated nurses
Authors: Çiriş Yildiz Cennet , Ergün Yasemin 
Published: September 2021

AbstractAimThis study aimed to develop and psychometrically test a Reality Shock Scale for newly graduated nurses.DesignAn instrument development and validation study.MethodA four‐phase structure was used: (1) determining the conceptual foundation (2) creating the items, (3) preliminary evaluation of items and (4) refining the scale and evaluating psychometric properties. The scale was evaluated in terms of content and construct validity. To assess its reliability, the scale was tested for internal consistency and a test–retest approach was applied. The psychometric characteristics of the scale were tested with 1310 newly graduated nurses working in different positions at 19 hospitals. Data were collected over the period January 2018–July 2019.ResultsPrior to the creation of the scale items, a scan of the literature was carried out, after which individual face‐to‐face, semi‐structured in‐depth interviews were held with the newly graduated nurses. The scale's Content Validity Index was 0.97. A 47‐item scale containing four subdomains (Relations and Cooperation, Professional Knowledge, Responsibilities, Performance) was developed as a result of the analyses; the scale explained 48.4% of total variance. The confirmatory factor analysis confirmed the scale's four‐factor construct. Cronbach's α was calculated as .95 for the overall scale.ConclusionThe Reality Shock Scale that was developed is a valid and reliable measure that can be used to determine the extent to which newly graduated nurses experience reality shock.ImpactThe developed tool makes it possible to determine the reality shock experienced by newly graduated nurses and influencing factors. Thus, educational institutions as well as health institutions have the means to develop policies to prevent reality shock experienced among newly graduated nurses.
Apatinib inhibits the growth of small cell lung cancer via a mechanism mediated by VEGF, PI3K/Akt and Ki‐67/CD31
Authors: Zhong Ning , Zhuang Wei , Huang Qian , Wang Qiang , Jin Wenjian 
Published: September 2021

AbstractThis study aimed to investigate the anti‐tumour effect of apatinib on extensive‐stage small cell lung cancer (SCLC) and elucidate the associated mechanisms. NCI‐H345 cells were selected as model cells because of high expression of vascular endothelial growth factor (VEGF), VEGF receptor 2 (VEGFR2) and phosphorylated‐VEGFR2 (pVEGFR2). Cells were exposed to recombinant human VEGF (rhVEGF) and apatinib. Cells were then divided into eight groups, namely, control, rhVEGF, apatinib, rhVEGF+apatinib, serum‐free medium (SM), SM+rhVEGF, SM+apatinib and SM+rhVEGF+apatinib. In comparison with the control group, cell proliferation in vitro in apatinib, SM, SM+apatinib and SM+rhVEGF+apatinib groups was inhibited, particularly in SM+apatinib group. The effect of apatinib on tumour growth in vivo was investigated using a mouse xenograft tumour model. In comparison with the control group, tumour sizes were reduced in apatinib‐treated group on days 34 and 37. Immunohistochemical and immunofluorescence staining revealed that VEGF, pVEGFR2, PI3K, AKT, p‐ERK1/2, Ki‐67 and CD31 in the tumour cells of apatinib‐treated group were downregulated compared with control group. Haematoxylin and eosin staining revealed that apatinib promoted the necrosis of SCLC cells in vivo. In conclusion, apatinib inhibited the growth of SCLC cells by downregulating the expression of VEGF, pVEGFR2, p‐PI3K, p‐AKT, p‐ERK1/2, Ki‐67 and CD31.
Epidemiology of advanced cutaneous squamous cell carcinoma
Authors: Dessinioti C. , Pitoulias M. , Stratigos A. J. 
Published: September 2021

AbstractCutaneous invasive squamous cell carcinoma (cSCC) most commonly presents as a typically indolent tumour with five‐year cure rates of >90%. Advanced cSCC has been defined as locally advanced or metastatic (locoregional or distant) cSCC. The epidemiological data on advanced cSCC are rare due to underreporting or exclusion of cSCC from national cancer registries. Although the frequency of local recurrence has been reported, there is no clear evidence on the incidence or mortality of locally advanced cSCCs, e.g. locally infiltrating or locally recurrent cSCCs that are not further amenable to curative surgery or radiotherapy. This gap of knowledge on the epidemiology of locally advanced cSCC, highlights the need for standardisation in defining and reporting both locally advanced and metastatic cSCC. Even though metastatic cSCCs are a small part of cSCCs (3%–5%), their aggressive characteristics contribute to significant morbidity, higher mortality and are those likely to require systemic treatments. Locally recurrent and metastatic cSCC may occur more frequently in high‐risk cSCCs (up to 35%). The site of metastasis involves in the vast majority the regional lymph nodes, with the head and neck lymph nodes or parotid most commonly affected. Metastasis occurs mostly within 2–3 years of the primary cSCC diagnosis. The knowledge of the incidence and prognosis of advanced cSCC and the risk stratification of patients, who may progress to advanced cSCC, emerge as pressing research areas with important implications for cost‐efficiency planning and optimisation of patient care.
Hybridization and genetic population structure of Alosa population in the United Kingdom
Authors: Antognazza Caterina Maria , Sabatino Stephen J. , Britton Robert J. , Hillman Rob J. , Aprahamian Miran , Hardouin Emilie A. , Andreou Demetra 
Published: September 2021

AbstractHuman‐mediated habitat fragmentation has been proposed as the main factor driving hybridization between the sympatric migratory European shads Alosa alosa and Alosa fallax, which has co‐occurred with substantial population declines in A. alosa. In river systems across Great Britain, shad are negatively affected by navigation weirs constructed in the last 150 years that impede their spawning migrations. Consequently, the aim here was to assess the impact of human disturbances on the genetic introgression and population structure of shad in Great Britain through genotyping 119 Alosa spp. using 24 microsatellite loci.
The effect of piscidin antimicrobial peptides on the formation of Gram‐negative bacterial biofilms
Authors: Prior Benjamin S. , Lange Miles D. , Salger Scott A. , Reading Benjamin J. , Peatman Eric , Beck Benjamin H. 
Published: September 2021

AbstractFish‐derived antimicrobial peptides are an important part of the innate immune system due to their potent antimicrobial properties. Piscidins are a class of antimicrobial peptides first described in hybrid striped bass (Morone chrysops x Morone saxatilis) but have also been identified in many other fish species. Previous work demonstrated the broad antimicrobial activity of piscidins against Gram‐negative and Gram‐positive bacterial species. This study sought to determine the extent to which class I (striped bass piscidin 1, white bass piscidin 1 and striped bass/white bass piscidin 3) and class II (striped bass piscidin 4 and white bass piscidin 5) piscidins inhibit biofilm formation of different Gram‐negative bacteria. In general, the class I and II piscidins demonstrate potent activity against Escherichia coli and Flavobacterium columnare biofilms. The class II piscidins showed more activity against E. coli and F. columnare isolates than did the class I piscidins. The piscidins in general were much less effective against inhibiting Aeromonas hydrophila and A. veronii biofilm growth. Only the class I piscidins showed significant growth inhibition among the Aeromonas spp. examined.
Doing flood risk modelling differently: Evaluating the potential for participatory techniques to broaden flood risk management decision‐making
Authors: Maskrey Shaun A. , Mount Nick J. , Thorne Colin R. 
Published: September 2021

AbstractResponsibility for flood risk management (FRM) is increasingly being devolved to a wider set of stakeholders, and effective participation by multiple FRM agencies and communities at risk calls for engagement approaches that supplement and make the best possible use of hydrologic and hydraulic flood modelling. Stakeholder engagement must strike a considered balance between participation ideals and the pragmatic realities of existing mechanisms for FRM decision‐making. This article evaluates the potential for using participatory modelling to facilitate engagement and co‐production of knowledge by FRM modellers, practitioners and other stakeholders. Participatory modelling offers an approach that is flexible and versatile, yet sufficiently structured that it can support meaningful representation of scientific, empirical and local knowledges in producing outcomes that can readily be integrated into existing procedures for shared decision‐making. This article frames the qualities of participatory modelling useful to FRM, as being accessible, transparent, adaptable, evaluative and holistic. These qualities are used as criteria with which to assess the practical utility of three popular participatory techniques: Bayesian networks, system dynamics and fuzzy cognitive mapping. Case studies are used to illustrate how each technique might benefit FRM options appraisal and decision‐making. While each technique has potential, none is ideal, and local contexts will guide selection of which technique is best suited to deliver effective stakeholder participation.
A critical review of complications in non‐surgical rhinoplasty and their management
Authors: Babu Sunita H. , Rapaport Benjamin H. J. 
Published: September 2021

AbstractBackgroundIn recent years, there has been a rise in non‐surgical rhinoplasty (NSR) due to its minimally invasive approach. As with all procedures, NSR can result in complications. Although rare, the consequences of complications can result in a devastating outcome and therefore an evidence‐based approach to enable the recognition and management of NSR complications is required.AimsThis paper aims to review and appraise current literature to determine the evidence base for complications experienced with NSR including their causes and management.MethodsA systematic review was conducted using a PRISMA methodology. The PubMed and WebofScience databases were queried. Papers relating to the three most commonly used filler materials; hyaluronic acid (HA), calcium hydroxyapatite and collagen were collated.ResultsFour hundred and ninety studies were identified in the initial literature search and after applying an inclusion and exclusion criteria, 12 papers were included.ConclusionThe results of this literature review showed a paucity of high‐level evidence which may indicate underreporting of NSR complications. Although treatment is not always effective, it is clear that early recognition and treatment favors better outcomes with the potential for complete resolution in some cases. Immediate availability of hyaluronidase is important when undertaking NSR with HA as this review showed early use was critical in the management of serious complications such as vascular occlusion.
Patients’ awareness of the prevention and treatment of the selected podiatry diseases
Authors: Ratajczak Piotr , Mutka Karolina , Michalak Michał , Kopciuch Dorota , Paczkowska Anna , Zaprutko Tomasz , Kus Krzysztof 
Published: September 2021

AbstractBackgroundThe lower limbs are an essential element of the structure of our body, bearing the weight and responsible for the correct motor skills. Defects in the functioning of the lower limbs and nails or foot skin can significantly affect the quality of life and limit full mobility. Due to the multitude of causes of podiatry changes, we consider their prevention and treatment interdisciplinary.AimsThis study aimed to examine the patient's awareness of selected podiatry units’ prevention and treatment methods.Patients/MethodsThe study was an anonymous questionnaire consisting of 23 questions. The survey was carried out from November 4, 2020, to March 3, 2021. 516 questionnaires were collected.ResultsThe results indicate that pain in the area of the feet is common. It was shown that patients do not have enough awareness and knowledge about proper foot care, yet the vast majority, mainly using Internet sources, try to solve the problem independently. In turn, a definite minority uses the services of a professional (eg, podiatrist) in this matter. The most commonly observed biological conditions are corns, cracked heels, ingrown toenails, and calluses.ConclusionPatients, despite low awareness of proper care and the risk of complications, rarely decide to seek the help of a specialist in the field of podiatry diseases, even though appropriate care constantly improves foot motor skills. This problem is significant among people chronically ill with somatic diseases that often cause symptoms in the feet and thus reduce the patient's quality of life.
Ageing with neuromuscular disease: Implications for a lifeworld‐led care through a humanising approach
Authors: Møller Louise Abildgaard , Martinsen Bente , Werlauf Ulla , Dreyer Pia 
Published: September 2021

ObjectivesTo understand the care and support needs in ageing with neuromuscular disease from a patient‐user perspective.BackgroundThe term neuromuscular disease covers several chronic hereditary or acquired disease subtypes. In the developed countries, advances in symptoms management, technical advancements and rehabilitation initiatives have resulted in increased life expectancy for some subtypes. Life with neuromuscular disease is thus likely to continue into adulthood and old age. However, knowledge of the care and support needs of patients ageing with neuromuscular disease remains sparse.DesignAdopting a user‐participatory approach embedded in a phenomenological hermeneutic tradition, we conducted two user‐group discussions focusing on care and support needs in people ageing with neuromuscular disease. Twenty‐five users with neuromuscular disease participated in the group discussions. Data were analysed using a three‐stepped analysis method inspired by the French Philosopher Paul Ricoeur. In the analysis process, dialectical movements between a surface interpretation and an in‐depth understanding occur. The COREQ checklist was used to report the study.ResultsTwo themes were identified; ‘Changes in the sheltering relationships of life require preparation’ and ‘Ageing introduces a dichotomy between circumstantial normalcy and minority groupness’. An understanding of care and support needs in life with neuromuscular disease was reached revealing a need for a lifeworld‐led approach.ConclusionPersons ageing with neuromuscular disease crave a fusion of disease‐ and age‐led care and support. This fusion may be achieved through the introduction of a lifeworld‐led approach to care and support.Relevance for clinical practiceUnmet care and support needs in people ageing with neuromuscular disease may result in patients experiencing fear and concern about their life situation. Healthcare professionals may play a crucial role in creating coherent lives for these persons if they understand the approach proposed herein to uncover the care and support needs in people ageing with neuromuscular disease.
Estimation of patent foramen ovale size using transcranial Doppler ultrasound in patients with ischemic stroke
Authors: Grisold Anna , Rinner Walter , Paul Anna , Gabriel Harald , Klickovic Uros , Wolzt Michael , Krenn Martin , Zimprich Fritz , Bsteh Gabriel , Sycha Thomas 
Published: September 2021

AbstractBackground and PurposePatent foramen ovale (PFO)is associated with cryptogenic stroke, especially in young adults. Transcranial Doppler (TCD) ultrasound is used as a screening tool before transesophageal echocardiography (TEE). However, the use of Valsalva maneuver (VM) to identify a right‐to‐left‐shunt underlies interindividual variability. Here, we aimed to assess whether a pressure‐controlled standardization of VM is useful to estimate PFO size.MethodsWe included patients aged 18–80 years with a PFO according to TEE. Subjects underwent TCD with microembolic signals (MES) counted under four pressure conditions (i.e., at rest, 15 mbar, 40 mbar, and maximum expiratory pressure). Findings were correlated with TEE‐based PFO size. The predictive value of TCD at rest and VM‐based TCD for PFO size estimation was assessed by stepwise multivariate linear regression models and multiple cross‐tab‐analyses.ResultsWe screened 203 subjects after a cerebrovascular event, of which 78 (48 males [61.5%], median age 55 years [22–80]) with PFO were included. We found an association between MES count and expiratory pressure (p < .001). Predefined MES count categories at TCD pressure conditions correlated significantly with PFO size measured by TEE. We propose a PFO size estimation model based on TCD at rest and under VM, which classified PFO size correctly in 64.1% with the highest accuracy for small PFOs.ConclusionOur data provide evidence that TCD with step‐wise barometric standardization allows an estimation of PFO size with good accuracy. Though TCD will not replace TEE in future, this might be of clinical value in circumstances where TEE cannot be easily performed.
A comparison of cytologic quality in fine‐needle specimens obtained with and without aspiration from superficial lymph nodes in the dog
Authors: Karakitsou V. , Christopher M. M. , Meletis E. , Kostoulas P. , Pardali D. , Koutinas C. K. , Mylonakis M. E. 
Published: September 2021

ObjectivesTo assess the impact of aspiration on cytologic quality of fine‐needle specimens obtained from lymph nodes of dogs and to compare the level of agreement of the cytologic diagnosis between the two sampling techniques.Materials and MethodsFifty‐three client‐owned dogs were prospectively enrolled. Client‐owned dogs were prospectively enrolled in the study if cytologic examination of lymph nodes was indicated in the course of their clinical diagnostic work‐up. In each dog, two superficial, palpably accessible lymph nodes were sampled: one by fine‐needle aspiration and the other by fine‐needle non‐aspiration, using a 21‐Gauge needle with or without a 5‐mL syringe. Cytologic quality was assessed in duplicate smears assessed by two observers who rated cellularity, blood contamination, thickness, cell preservation and cytoplasmic fragmentation using a predefined scoring system.ResultsFifty‐three client‐owned dogs were included in the study. No significant difference was found in rating scores between the two sampling techniques for any of the cytologic quality parameters assessed. Cohen's kappa coefficient was 0.84 (95% confidence interval 0.68‐1.00), indicating diagnostic agreement between the sampling techniques.Clinical SignificanceIn this study, both fine‐needle aspiration and fine‐needle non‐aspiration techniques yielded lymph node specimens of comparable cytologic quality and with acceptable agreement in cytologic diagnosis.
Counterion Pairing Effects on a Flavylium Heptamethine Dye†
Authors: Pengshung Monica , Cosco Emily D. , Zhang Zhumin , Sletten Ellen M. 
Published: September 2021

AbstractPolymethine fluorophores have facilitated the advance of biological and material sciences, due to their advantageous photophysical properties. However, the need to maintain a monomeric state can severely limit the utility and processability of dyes. High concentrations of fluorophore can lead to aggregation and negate the beneficial photophysical properties of monomers. Another concern is “crossing the cyanine limit” in which delocalization within the polymethine scaffold is broken, producing the presence of an asymmetric state diminishing its photophysical behavior. Herein, we attempt to overcome these limitations by exploring anion exchange on a cationic flavylium heptamethine scaffold. By increasing the size and hydrophobicity of the anion, we can effectively tune the degree of ion pairing within the polymethine dye. Interestingly, we found that the effect of ion pairing on photophysical properties was subtle for the flavylium heptamethine scaffold in comparison to the more commonly used indolenine cyanine dye. Utilizing larger weakly coordinating anions enabled solubility of the flavylium heptamethine fluorophore in nonpolar solvents, which could otherwise not be achieved. Even with more subtle effects than classic cyanine dyes, anion exchange on flavylium polymethine dyes holds potential for further manipulation of the properties of these low energy dyes.