bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic counseling and testing for hereditary hemorrhagic telangiectasia
Authors: Lam Shravika , Guthrie Kelsey S. , Latif Muhammad A. , Weiss Clifford R. 
Published: August 2021

AbstractGenetic counseling is an important means of identifying a patient's genetic risk of hereditary hemorrhagic telangiectasia (HHT) and assisting patients in making informed decisions about their health. With an increase in understanding of the genetic mechanisms underlying HHT over the last decade, genetic counseling is increasingly being incorporated into the care of patients affected by HHT. In addition to refining the diagnosis of symptomatic patients, genetic testing can help to distinguish asymptomatic, at‐risk patients from those who are unaffected by HHT. The purpose of this review article is to summarize the current knowledge regarding the role of genetic counseling and genetic testing in identifying and managing HHT in at‐risk populations. This article also reviews the guidelines, outcomes, risks, and challenges of genetic counseling and testing for HHT in various patient populations, and provides an algorithm for the use of genetic counseling in symptomatic and asymptomatic patients.
Pharmacogenomic polygenic risk score for clopidogrel responsiveness among Caribbean Hispanics: A candidate gene approach
Authors: Duconge Jorge , Santiago Ednalise , Hernandez‐Suarez Dagmar F. , Moneró Mariangeli , López‐Reyes Andrés , Rosario Marines , Renta Jessicca Y. , González Pablo , Ileana Fernández‐Morales Laura , Antonio Vélez‐Figueroa Luis , Arce Orlando , Marín‐Maldonado Frances , Nuñez Héctor , Melin Kyle , Scott Stuart A. , Ruaño Gualberto 
Published: August 2021

AbstractThis multicenter clinical study was aimed at conducting a targeted pharmacogenomic association analysis of residual on‐clopidogrel platelet reactivity in 474 Caribbean Hispanic patients. Platelet reactivity was measured using the VerifyNow P2Y12 assay and clopidogrel resistance was defined as P2Y12 reaction units (PRUs) greater than or equal to 208. Genotyping was performed using the whole‐genome Infinium MEGA BeadChip array. An ancestry‐adjusted, weighted polygenic risk score (wPGxRS) was developed to account for the effect of multiple variants on PRU and compared between clopidogrel responders and nonresponders. The mean PRU across the study cohort was 173.8 ± 68.5 and 33.5% of patients were defined as clopidogrel resistant. Multivariate linear regression showed that 19% of PRU variability was attributed to nine independent predictors, with CYP2C19*2 (rs4244285) accounting for ~ 7% of observed PRU variation (p < 0.001). PON1 rs662, ABCB1/MDR1 rs2032582, PEAR1 rs12041331 carrier status, and the interaction between African ancestry and rs12041331 carriers also predicted PRU among the participants (p ≤ 0.05). A clear gene‐dose effect was detected between PRU and CYP2C19*2 genotype, consistent with previous studies in European patient populations, as well as rs12777823. Importantly, a significant positive correlation was detected between our novel wPGxRS (4 variants) and PRU among the Hispanic patient population (rp = 0.35, p < 0.001). Moreover, the wPGxRS discriminated between nonresponders and responders (p = 0.003), indicating that this multigene‐based score is a useful predictor of clopidogrel resistance among Caribbean Hispanics. Taken together, these results help close the gap of knowledge on clopidogrel pharmacogenomics and its potential clinical implementation in this under‐represented population.
A protocol for the first episode psychosis outcome study (FEPOS): ≥15 year follow‐up after treatment at the Early Psychosis Prevention and Intervention Centre, Melbourne, Australia
Authors: Cotton Sue , Filia Kate , Watson Amity , Mackinnon Andrew J. , Hides Leanne , Gleeson John F. M. , Berk Michael , Conus Philippe , Lambert Martin , Schimmelmann Benno , Herrman Helen , Rayner Victoria , Ratheesh Aswin , McGorry Patrick D. 
Published: August 2021

AbstractBackgroundSpecialist early intervention (SEI) service models are designed to treat symptoms, promote social and vocational recovery, prevent relapse, and resource and up‐skill patients and their families. The benefits of SEI over the first few years have been demonstrated. While early recovery can be expected to translate to better long‐term outcomes by analogy with other illnesses, there is limited evidence to support this from follow‐up studies. The current study involves the long‐term follow‐up of a sub‐set of first episode psychosis (FEP) patients, with a range of diagnoses, who were first treated at Orygen's Early Psychosis Prevention and Intervention Centre (EPPIC) between 1998 and 2000. The aim of this paper is to present the methodology for this follow‐up study.MethodsBetween January 1998 and December 2000, 786 patients between the ages of 15–29 years were treated at EPPIC, located in Melbourne, Australia. Our cohort consists of 661 people (82 were transferred/discharged and 43 were not diagnosed with a psychotic disorder at time of discharge). The 18‐month treatment characteristics of this cohort have been extensively examined in the First Episode Psychosis Outcome Study (FEPOS). The ≥15 year outcomes of this cohort are being examined in this study, known as FEPOS15.ResultsParticipant follow‐up is ongoing. In order to extend and assess broader outcomes of the cohort, data linkage with health‐related databases will be conducted.ConclusionThis study will provide a comprehensive evaluation of the long‐term trajectory of psychotic disorders after treatment for FEP in a SEI service.
A qualitative study on the experiences of haemophilia carriers before, during and after pregnancy
Authors: Punt Marieke C. , Teela Lorynn , Fischer Kathelijn , Bloemenkamp Kitty W. M. , Lely A. Titia , Driessens Mariette H. E. , Pekel Lynnda , Haverman Lotte , van Galen Karin P. M. 
Published: August 2021

AbstractIntroductionHaemophilia carriers (HCs) face considerable haemostatic and psychological challenges during reproduction.AimTo explore the perspectives of HCs on healthcare in the current standard of haemophilia treatment during all reproductive phases: preconception, pregnancy, childbirth and the postpartum period. In addition, we examined the psychological impact of haemophilia during these phases.Material and methodsFocus group discussions (FGDs) and semi‐structured interviews were conducted with HCs in January/February 2020 until data saturation was reached. All sessions were recorded, transcribed verbatim and analysed by two independent researchers through thematic content analysis using MAXQDA® software. The results were then discussed within the research team until consensus was reached. The constructed themes were shared with and reviewed by the HCs.ResultsFifteen HCs were included in three FGDs and four interviews. Five central themes were constructed: (1) communication by healthcare professionals, (2) lack of knowledge, (3) feeling insecure, (4) autonomy and (5) family experiences with haemophilia. Desired improvements in care mainly concerned counselling during preconception and pregnancy. This included timely access to comprehensive information during each consecutive phase, acceptance of HCs’ choices by healthcare providers and healthcare tailored to the HC's family experience with haemophilia.ConclusionsIn recent years, haemophilia treatment has seen major advances, which could impact general and reproductive care for HCs. HCs indicated that reproductive care would benefit from a more personal and informative approach. Healthcare professionals could use these insights to adapt their consultations to meet the needs of these women when they are preparing for having children.
Integrative proteomic and metabolomic analyses reveal the mechanism by which bismuth enables Helicobacter pylori eradication
Authors: Yao Xingyu , Xiao Shiyu , Zhou Liya 
Published: August 2021

AbstractBackgroundBismuth‐based drugs are used to treat Helicobacter pylori infection; however, the antibacterial activity of bismuth, especially against H. pylori, has not been fully elucidated. In this study, the mechanisms by which bismuth exerts its detrimental effects on H. pylori were evaluated.MethodsSix H. pylori strains isolated from different patients were cultured with or without bismuth; proteins and metabolites differentially expressed in these two sets of bacteria were detected via data independent acquisition proteomic and gas chromatography‐mass spectrometry metabolic approaches, respectively. Gene ontology functional analysis and Kyoto Encyclopedia of Genes and Genomes database were used to identity pathway enrichment.ResultsBismuth inhibited H. pylori growth in vitro via the following mechanisms: downregulation of virulence proteins CagA and VacA; disruption of flagella assembly responsible for bacterial colonization; and inhibition of antioxidant enzymes, including catalase, catalase‐related peroxidase, and superoxide dismutase. Diverse metabolic pathways related to growth and RNA translation in H. pylori were disrupted by bismuth. Bismuth treatment impaired many biological processes in H. pylori, including antioxidant response and purine, pyrimidine, amino acid, and carbon metabolism.ConclusionsThe findings of this study suggest that motility, virulence factors CagA and VacA, antioxidant defense system, and many important metabolic pathways associated with bacterial growth, including nucleotide and amino acid metabolism and translation in H. pylori, are inhibited by bismuth. This study provides novel insights into the mechanism by which bismuth eradicates H. pylori upon being incorporated into quadruple therapy.
Onychophagia: detailed clinical characteristics
Authors: Shin Jun‐Oh , Roh Dongyoung , Son Jin‐Hwa , Shin Kihyuk , Kim Hoon‐Soo , Ko Hyun‐Chang , Kim Byung‐Soo , Kim Moon‐Bum 
Published: August 2021

AbstractBackgroundOnychophagia is a common disorder affecting 20% to 30% of the general population. It is defined as habitual nail biting and can cause various changes in the nail units. However, to date, there has been a paucity of data focusing on nail deformities related to onychophagia. This study was performed to investigate the clinical characteristics of onychophagia in Korea.MethodsThis study included 53 patients with onychophagia who visited the Pusan National University Hospital (Busan and Yangsan) over a 10‐year period (2011–2020). We retrospectively reviewed medical records and clinical and dermoscopic photographs.ResultsAll 10 fingernails were affected in 37.7% of the patients. The left thumbnail was the most predominantly affected site (81.1%). Clinical findings showed that short nails with ragged distal borders were the most common presentation (100.0%), followed by generalized or patchy rough areas (50.9%), linear and pinpoint hemorrhage (32.1%), longitudinal melanonychia (30.2%), transverse groove (28.3%), brittleness (28.3%), macrolunula (24.5%), washboard nail (13.2%), and pterygium (3.8%). Of the patients, 88.7% had periungual complications, such as periungual exfoliation (77.4%), absent or ragged cuticle (52.8%), hyponychial hyperkeratosis (37.7%), and paronychia (15.1%).ConclusionsAlthough onychophagia is a common disorder, its clinical characteristics have not been reported in the literature. The results of this study may be helpful in managing patients with onychophagia.
Evaluation of antioxidant activity of olive leaf extract obtained by ultrasound‐assisted extraction and their antimicrobial activity against bacterial pathogens from food
Authors: Giacometti Jasminka , Milovanović Sanja , Jurc\̌ić Momc\̌ilović Diana , Bubonja‐S\̌onje Marina 
Published: August 2021

SummaryThe aim of the present study was to evaluate and compare the phenolic content and antioxidant and antimicrobial properties of olive leaf extracts obtained by ultrasound‐assisted extraction (UAE) and conventional extraction (CSE). UAE of olive leaf extracts yielded a higher total phenolic content (TPC) and total flavonoid content (TFC) of 14.31% and 19.50%, respectively. Higher antioxidant activities were found from the extracts prepared with UAE (for 18.5%, 12.5%, 10.9% and 17.6% higher determined by DPPH, ABTS, FRAP and CUPRAC methods, respectively). Good antibacterial inhibitory activity (as MIC and MBC) was observed against both Y. enterocolitica and S. aureus (1.40 ± 0.40 mg mL−1 and 4.00 ± 1.60 mg mL−1, respectively) with the extract prepared with UAE. In conclusion, olive leaf extracts prepared with UAE exhibited higher antioxidant and antimicrobial activities against common food‐borne pathogens than CSE extracts and thus could be beneficial in ensuring food quality and food safety.
Integrating training and performance management of civil aviation inspectors: A pilot study of the mediating role of competency‐based training
Authors: Vaskova Kjulavkovska Maja , Serafini Giovanni Oscar , Szamosi Leslie Thomas 
Published: August 2021

AbstractCompetency‐based training (CBT) is gaining popularity as an approach towards creating a highly skilled workforce while reducing the skill gaps faced by industry. Integrated within an organisation's management systems, it can lead to benefits such as increased productivity and strengthened employee engagement. While CBT of aviation industry personnel is well‐researched, CBT of civil aviation inspectors is surprisingly under‐researched. To better understand the role that CBT plays as a link between organisational training and performance management, a pilot study was carried out involving eleven European Civil Aviation Authorities (CAAs) to establish the feasibility of conducting a larger‐scale study. This research examines CBT elements which were then benchmarked against the Framework for integrating training and performance management systems of CAAs through CBT. The results indicate that the elements of CBT applied by CAAs in Europe are generally consistent; however, not all the recommended elements are included and applied harmoniously, leading to inconsistencies in implementing the approach. Implications of the study for training and performance management, as well as for future research, are identified.
Patients living ≥25 years with a non‐continent urinary diversion: What can we learn?
Authors: Cobussen‐Boekhorst Hanny J. G. L. , Janssen Vera A. C. T. , Smits‐van de Camp Anita , Aarts Marloes , Verberk Maartje M. W. , Martens Frank M. J. , Feitz Wout F. J. , Heesakkers John P. F. A. 
Published: August 2021

AbstractHow is quality of life (QoL) experienced in patients living with a non‐continent urinary diversion (NCUD) for more than 25 years. The NCUD still is important in patients who suffer from congenital anomaly, urinary malignancy, end‐stage functional voiding or storage disorders. Various complications can occur having a NCUD and can influence psychological and social well‐being. In literature the importance of ostomy self‐care is described. Limited information is available about living ≥25 years with a NCUD. A mixed‐method (quantitative and qualitative) was used. Twenty‐one patients, who were using NCUD appliances were selected, from a cohort of 43. Data was collected using a validated questionnaire supplemented with some questions. Additionally, semi‐structured narrative‐based interviews were conducted. Informed consent was obtained. Questionnaire response was 71% (n = 15). One was invalid. Ratio female/male was equal. Mean age 62 (range 42–83) years. Mean time living with a NCUD 40 (range 25–56) years. Although results per question vary, a mean score of 63 for QoL was experienced. Eleven patients had a good QoL (mean 66). There were no differences between gender and for the age‐groups. Five patients were interviewed. Characteristics were comparable with the quantitative group. The results of the mixed method study strengthened each other and are consistent with the (limited) results described in literature. The QoL is generally experienced as good. The QoL is not so much influenced by the NCUD itself, but by the underlying disease and/or complications of the NCUD. During the first years information and guidance is important to secure good QoL. The guidance patients receive nowadays is generally experienced as very good in our group, however it remains important to discuss sexuality, involve partners, caregivers and the help of peers. Multi‐center studies and prospective follow‐up regarding QoL might give more insight in the QoL over the years.
Reproduction in the spider crab Maiopsis panamensis (Decapoda: Majoidea) in the Gulf of California
Authors: Rodríguez‐Jaramillo Carmen , López‐Martínez Juana , Herrera‐Valdivia Eloísa , Rábago‐Quiroz Carlos H. 
Published: August 2021

AbstractThe spider crab Maiopsis panamensis is the largest brachyuran crab in the Gulf of California and is found mainly in deep water. This study of the spider crab reproductive cycle in Mexican coastal waters used histological and chemical methods to describe oogenesis in detail and to define a scale of maturity based on visible characteristics for the different stages of gonial cells. The criteria used in the description of oogenesis were oocyte diameter, nucleus morphology, ooplasm characteristics, and degree of yolk accumulation, as well as lipid, protein, and carbohydrate content. These results showed that maturation and spawning are continuous in this species during most of the year, with small variations in the proportion of ovigerous females. The lowest frequency of mature females was found in spring (March to May) and summer (June to August). The organisms migrate to greater depths in the second half of the year. Maiopsis panamensis was found to have high reproductive potential because each female can produce multiple generations of oocytes in the ovaries while carrying the ovigerous mass. These characteristics mean that females spawn and hatch larvae numerous times throughout the year. Studies on the biology of this spider crab combined with study of techniques for catching them would allow informative strategies towards the sustainable use of this species in the Mexican Pacific Ocean and the Gulf of California.
Nurses' experience of handoffs on four Canadian medical and surgical units: A shared accountability for knowing and safeguarding the patient
Authors: Lavoie Patrick , Clausen Christina , Purden Margaret , Emed Jessica , Frunchak Valerie , Clarke Sean P. 
Published: August 2021

AbstractAimsTo explore nurses' experience and describe how they manage various contextual factors affecting the nurse‐to‐nurse handoff at change of shift.DesignQualitative descriptive study.MethodsA convenience sample of 51 nurses from four medical and surgical care units at a university‐affiliated hospital in Montreal, Canada, participated in one of the 19 focus group interviews from November 2017 to January 2018. Data were analysed through a continuous and iterative process of thematic analysis.ResultsAnalysis of the data generated a core theme of ‘sharing accountability for knowing and safeguarding the patient’ that is achieved through actions related to nurses' role in the exchange. Specifically, the outgoing nurse takes actions to ensure continuity of care when letting go, and the incoming nurse takes actions to provide seamless care when taking over. In both roles, nurses navigate each handoff juncture by mutually adjusting, ensuring attentiveness, managing judgements, keeping on track, and venting and debriefing. Handoff is also shaped by contextual conditions related to handoff norms and practices, the nursing environment, individual nurse attributes and patient characteristics.ConclusionsThis study generated a conceptualization of nurses' roles and experience that details the relationship among the elements and conditions that shape nurse‐to‐nurse handoffs.ImpactNursing handoff involves the communication of patient information and relational behaviours that support the exchange. Although many factors are known to influence handoffs, little was known about nurses' experience of dealing with these at the point of care. This study contributed a comprehensive conceptualization of nursing handoff that could be useful in identifying areas for quality improvement and guiding future educational efforts.
The effort investment theory of power
Authors: Schmid Petra C. 
Published: August 2021

AbstractThe powerful are often more successful in pursuing their goals, as shown in many studies. Does this mean that the powerful try harder? Current theories on power do not provide a clear answer to this question. Based on recent findings in the power literature and integrating theories from motivation psychology and neuroscience, the present paper presents the effort investment theory of power. The effort investment theory proposes that power determines the investment of effort following a resource conservation principle; that is, power affects people’s evaluation of a goal in terms of its importance and feasibility, and based on their evaluation, they mobilize effort. Importantly, the theory also considers a time perspective. It highlights the role of experiences during the process of pursuing a goal (i.e., facing signals of success and failure) as well as previous experiences (i.e., performing a different task/goal before) in the power effect on effort investment, and argues that such experiences affect individuals’ judgments of importance and feasibility. Finally, the theory discusses possible consequences of the power effect on effort investment for performance and efficiency. The relevance of these propositions for theory and practice are discussed, as well as ideas for future research.
Increased airway epithelial cell–derived exosomes activate macrophage‐mediated allergic inflammation via CD100 shedding
Authors: Yu Yi , Zhou Yao , Di Caixia , Zhao Caiqi , Chen Jie , Su Wen , Wu Qun , Wu Min , Su Xiao , Xia Zhenwei 
Published: August 2021

AbstractAirway epithelial cells (AECs) participate in allergic airway inflammation by producing mediators in response to allergen stimulation. Whether ovalbumin (OVA) challenge promotes exosome release from AECs (OVA‐challenged AEC‐derived exosomes (OAEs)), thereby affecting airway inflammation, as well as the underlying mechanisms, is unknown. Our study showed that AECs released an increased number of exosomes after OVA challenge, and the expression of Plexin B2 (PLXNB2; a natural CD100 ligand) was increased by a massive 85.7‐fold in OAEs than in PBS‐treated AEC‐derived exosomes (PAEs). CD100+F4/80+ macrophages engulfed OAEs to trigger the transcription of pro‐inflammatory chemokines and cytokines. Plxnb2 transcripts increased in asthmatic lungs, and similarly, PLXNB2 protein was highly enriched in exosomes purified from asthmatic bronchoalveolar lavage (BAL) fluid. Furthermore, aspiration of PLXNB2 or OAEs increased the recruitment of lung neutrophils, monocytes, eosinophils and dendritic cells in OVA‐challenged mice. Mechanistically, OAE aspiration enhanced the cleavage of CD100 by MMP14, which manifested as an increase in the soluble CD100 (sCD100) level in BAL fluid and lung homogenates. Knockdown of Mmp14 in macrophages prevented the cleavage of CD100 and reduced Ccl2, Ccl5 and Cxcl2 transcription. These data indicate that PLXNB2‐containing OAEs aggravate airway asthmatic inflammation via cleavage of CD100 by MMP14, suggesting potential therapeutic targets of OAE‐mediated asthma exacerbations.