bluuebunny/crossref_metadata_2025_split huggingface dataset:
mtDNA depletion‐like syndrome in Wilson disease
Authors: Medici Valentina , Sarode Gaurav V. , Napoli Eleonora , Song Gyu‐Young , Shibata Noreene M. , Guimarães Andre O. , Mordaunt Charles E. , Kieffer Dorothy A. , Mazi Tagreed A. , Czlonkowska Anna , Litwin Tomasz , LaSalle Janine M. , Giulivi Cecilia 
Published: September 2020

AbstractBackground and AimsWilson disease (WD) is caused by mutations in the copper transporter ATP7B, with its main pathology attributed to copper‐mediated oxidative damage. The limited therapeutic effect of copper chelators and the early occurrence of mitochondrial deficits, however, undermine the prevalence of this mechanism.MethodsWe characterized mitochondrial DNA copy number and mutations as well as bioenergetic deficits in blood from patients with WD and in livers of tx‐j mice, a mouse model of hepatic copper accumulation. In vitro experiments with hepatocytes treated with CuSO4 were conducted to validate in vivo studies.ResultsHere, for the first time, we characterized the bioenergetic deficits in WD as consistent with a mitochondrial DNA depletion‐like syndrome. This is evidenced by enriched DNA synthesis/replication pathways in serum metabolomics and decreased mitochondrial DNA copy number in blood of WD patients as well as decreased mitochondrial DNA copy number, increased citrate synthase activity, and selective Complex IV deficit in livers of the tx‐j mouse model of WD. Tx‐j mice treated with the copper chelator penicillamine, methyl donor choline or both ameliorated mitochondrial DNA damage but further decreased mitochondrial DNA copy number. Experiments with copper‐loaded HepG2 cells validated the concept of a direct copper‐mitochondrial DNA interaction.ConclusionsThis study underlines the relevance of targeting the copper‐mitochondrial DNA pool in the treatment of WD separate from the established copper‐induced oxidative stress‐mediated damage.
Quorum‐sensing signaling by chironomid egg masses’ microbiota, affects haemagglutinin/protease (HAP) production by Vibrio cholerae
Authors: Sela Rotem , Hammer Brian K. , Halpern Malka 
Published: October 2020

AbstractVibrio cholerae, the causative agent of cholera, is commonly isolated, along with other bacterial species, from chironomid insects (Diptera: Chironomidae). Nevertheless, its prevalence in the chironomid egg masses’ microbiota is less than 0.5%. V. cholerae secretes haemagglutinin/protease (HAP) that degrades the gelatinous matrix of chironomid egg masses and prevents hatching. Quorum sensing (QS) activates HAP production in response to accumulation of bacterial autoinducers (AIs). Our aim was to define the impact of chironomid microbiota on HAP production by V. cholerae. To study QS signaling, we used V. cholerae bioluminescence reporter strains (QS‐proficient O1 El‐Tor wild‐type and QS‐deficient mutants) and different bacterial species that we isolated from chironomid egg masses. These egg mass isolates, as well as a synthetic AI‐2, caused an enhancement in lux expression by a V. cholerae QS‐deficient mutant. The addition of the egg mass bacterial isolate supernatant to the QS‐deficient mutant also enhanced HAP production and egg mass degradation activities. Moreover, the V. cholerae wild‐type strain was able to proliferate using egg masses as their sole carbon source, while the QS‐deficient was not. The results demonstrate that members of the chironomid bacterial consortium produce external chemical cues that, like AI‐2, induce expression of the hapA gene in V. cholerae. Understanding the interactions between V. cholerae and the insects’ microbiota may help uncover the interactions between this pathogen and the human gut microbiota.
Assessing the impact of the threatened crucian carp (Carassius carassius) on pond invertebrate diversity: A comparison of conventional and molecular tools
Authors: Harper Lynsey R. , Lawson Handley Lori , Sayer Carl D. , Read Daniel S. , Benucci Marco , Blackman Rosetta C. , Hill Matthew J. , Hänfling Bernd 
Published: October 2020

AbstractFishes stocked for recreation and angling can damage freshwater habitats and negatively impact biodiversity. The pond‐associated crucian carp (Carassius carassius) is rare across Europe and is stocked for conservation management in England, but its impacts on pond biota are understudied. Freshwater invertebrates contribute substantially to aquatic biodiversity, encompassing many rare and endemic species, but their small size and high abundance complicate their assessment. Practitioners have employed sweep‐netting and kick‐sampling with microscopy (morphotaxonomy), but specimen size/quality and experience can bias identification. DNA and environmental DNA (eDNA) metabarcoding offer alternative means of invertebrate assessment. We compared invertebrate diversity in ponds (N = 18) with and without crucian carp using morphotaxonomic identification, DNA metabarcoding and eDNA metabarcoding. Five 2 L water samples and 3 min sweep‐net samples were collected at each pond. Inventories produced by morphotaxonomic identification of netted samples, DNA metabarcoding of bulk tissue samples and eDNA metabarcoding of water samples were compared. Alpha diversity was greatest with DNA or eDNA metabarcoding, depending on whether standard or unbiased methods were considered. DNA metabarcoding reflected morphotaxonomic identification, whereas eDNA metabarcoding produced markedly different communities. These complementary tools should be combined for comprehensive invertebrate assessment. Crucian carp presence minimally reduced alpha diversity in ponds, but positively influenced beta diversity through taxon turnover (i.e., ponds with crucian carp contained different invertebrates to fishless ponds). Crucian carp presence contributes to landscape‐scale invertebrate diversity, supporting continued conservation management in England. Our results show that molecular tools can enhance freshwater invertebrate assessment and facilitate development of more accurate and ecologically effective pond management strategies.
The mosquitoes of Finland: updated distributions and bionomics
Authors: Culverwell C. L. , Uusitalo R. J. , Korhonen E. M. , Vapalahti O. P. , Huhtamo E. , Harbach R. E. 
Published: September 2020

AbstractMosquitoes (Diptera: Culicidae) were collected in Finland between 2012 and 2018 to determine the species present and their distributions. In total, 52 466 specimens from 1031 collections formed the basis for the preparation of distribution maps for each of the 40 species that were collected. Anopheles maculipennis s.s., An. claviger, Aedes geminus and Ochlerotatus sticticus are confirmed on mainland Finland after previous records were uncertain or absent. Coquillettidia richiardii, Culiseta morsitans, Cs. ochroptera, Culex territans, Cx. torrentium, Oc. leucomelas, Oc. nigrinus, Oc. pullatus and Oc. punctodes occur more widely than previously reported. Three species, Ae. rossicus, Cs. subochrea and Oc. cyprius were not collected, although Ae. rossicus was subsequently found in Lapland by another researcher. No invasive species were collected. Ochlerotatus communis, an aggressive biter, was the most commonly encountered species. Larval collection data suggest that several species may have up to three generations per year in Finland, with Cx. torrentium and Cx. pipiens having at least two, and Oc. communis and Oc. punctor regularly found as larvae across the summer. These data, especially when coupled with historical records, are vital for monitoring species which have significant vector potential, particularly when faced with a warming climate.
Addition of small‐bowel transit scintigraphy to gastric emptying for assessment of patients with upper gastrointestinal symptoms
Authors: Maurer Alan H. , Yu Daohai , Lu Xiaoning , Dadparvar Simindokht , Kamat Bhishak H. , Shahsavari Dariush , Parkman Henry P. 
Published: September 2020

AbstractBackgroundDyspeptic symptoms are not well correlated with gastric emptying (GE) results.AimsTo determine (a) prevalence of delayed SB transit (SBT) in patients undergoing GE scintigraphy for symptoms of gastroparesis; (b) symptoms associated with delayed SBT.MethodsPatients with symptoms of gastroparesis underwent combined GE and SBT scintigraphy (GES/SBTS). Patients ingested a mixed solid (S)‐liquid (L) meal with egg whites labeled with 500 µCi Tc‐99 m sulfur colloid and water with 125 µCi In‐111 DTPA. Retained S and L gastric activity and percent of L In‐111 activity in terminal ileum (TI) and/or cecum/colon at 6 h were determined. Patient Assessment of Gastrointestinal Symptoms (PAGI‐SYM) assessed symptoms from 0 (none) to 5 (very severe).Key ResultsOf 363 patients, 174 (47.9%) had delayed S GE, 141 (38.8%) delayed L GE, and 70 (19.3%) delayed SBT. Delayed SBT was seen in 24 (6.6%) with normal S GE and 46 (12.7%) with delayed S GE. Patients with isolated delayed SBT had highest symptom scores for postprandial fullness (3.5), stomach fullness (3.4), nausea (3.2), bloating (3.2), compared to isolated delayed S GE who had highest symptom scores for postprandial fullness (3.7), nausea (3.6), stomach fullness (3.4), and early satiety (3.3).Conclusions & InferencesDelayed SBT occurred in 19.3% of dyspeptic patients using GES/SBTS. While postprandial and stomach fullness were common to both delayed S GE and delayed SBT, early satiety was associated with delayed S GE whereas bloating was associated with delayed SBT. Thus, SBTS can augment GES to help explain some symptoms associated with dyspepsia and suspected gastroparesis.
Moral luck in team‐based health care
Authors: Story Daniel , Kenner Catelynn 
Published: October 2020

AbstractClinicians regularly work as teams and perform joint actions that have a great deal of moral significance. As a result, clinicians regularly share moral responsibility for the actions of their teams and other clinicians. In this paper, we argue that clinicians are exceptionally susceptible to a special type of moral luck, called interpersonal moral luck, because their moral statuses are often affected by the actions of other clinicians in a way that is not fully within their control. We then argue that this susceptibility partly explains why a conscientious clinician has reason to avoid participating in unvirtuous healthcare teams. We also argue that this susceptibility partly explains the special systems of entitlements that characterize healthcare teams and set healthcare teams apart from other teams of workers.
Guardians of humanity? The challenges of nursing practice in the digital age
Authors: Rubeis Giovanni 
Published: September 2020

AbstractDigital technologies have become a crucial factor in nursing. Given the fact that many tasks could also be done by robots or AI systems, the place for the nurse in this scenario is unclear. In what way and to what extent will the implementation of ever more sophisticated technology affect nursing practice? It is the aim of this paper to analyse the potential challenges of nursing practice in the digital age. The analysis is conducted through the lens of new materialism, a set of theoretical models that understand the relationship between humans and technology as dynamic and performative. According to this view, there is no prefixed essence of technology. Rather, the meaning of technology is enacted in concrete practice. The analysis shows that in past debates on technology use in nursing, the nurses’ role has been defined as guardians of humanity, defending the patient against the dehumanizing effects of technology. This role has been transferred to the digital age, where it is the duty of nurses to cushion the negative effects of digital technology. As an alternative to this outdated role, nurses should be included in processes of technology design and policymaking. Enabling nursing professionals to shape the circumstances of a digitally enhanced holistic practice may empower their status within the healthcare system and also benefit the patient by contributing to a more person‐centred care.
Identification of Streptococcus mutans genes involved in fluoride resistance by screening of a transposon mutant library
Authors: Yu Jie , Wang Yaqi , Han Dongmei , Cao Wei , Zheng Lanyan , Xie Zhoujie , Liu Hao 
Published: October 2020

AbstractFluoride has been used as an effective anticaries agent for more than 70 years, which might result in the emergence of fluoride‐resistant strains. However, the fluoride resistance mechanism and the cariogenic properties of fluoride‐resistant mutant for cariogenic bacterial species Streptococcus mutans remain largely unknown. We describe here the construction and characterization of a mariner‐based transposon system designed to be used in S. mutans, which is also potentially applicable to other streptococci. To identify genetic determinants of fluoride resistance in S. mutans, we constructed a library of S. mutans transposon insertion mutants and screened this library to identify mutants exhibiting fluoride resistance phenotype. Two mutants were found to carry transposon insertion in two different genetic loci (smu.396 and smu.1291c), respectively. Our subsequent genetic study indicates the fluoride‐resistant phenotype for the mutant with the insertion in smu.1291c is resulting from the constitutive overexpression of downstream operon smu.1290c‐89c, which is consistent with the previous reports. We also demonstrate for the first time that the deletion of smu.396 is responsible for the fluoride‐resistant phenotype and that the combining of smu1290c‐89c overexpression and smu.396 deletion in one strain could attribute an additive effect on the fluoride resistance. In addition, our results suggest that the biological fitness of those fluoride‐resistant mutants is reduced compared to that of wild‐type strain. Overall, our identification and characterization of genetic determinants responsible for fluoride resistance in S. mutans expand our understanding of the fluoride resistance mechanism and the biological consequence of the fluoride resistance strains.
Medial Metaphyseal Beak Angle as a Predictor for Langenskiöld Stage II of Blount's Disease
Authors: Wongcharoenwatana Jidapa , Kaewpornsawan Kamolporn , Chotigavanichaya Chatupon , Eamsobhana Perajit , Laoharojanaphand Tinh , Musikachart Piyanuch , Ariyawatkul Thanase 
Published: October 2020

ObjectiveTo determine the medial metaphyseal beak (MMB) cut‐off angle predicting Langenskiöld stage II of Blount's disease and to study the intra‐observer and inter‐observer reliabilities of angle measurements and the influence of the experience level of observers.MethodsA retrospective study was conducted on children aged 2–4 years from January 2000 to December 2017. Children were identified through a computer‐based search. Children with Langenskiöld stage II of Blount's disease who had been initially evaluated at our institution were categorized into Blount group and children who were diagnosed with physiologic bowing were categorized into control group. Data on the patients' ages, genders, and affected sides were collected. The MMB angles were measured on standing anteroposterior radiographs of the knees. The angle was formed between one line drawn parallel to the medial cortex of the proximal tibia, and a second line running from the intersection of the first line with the proximal tibial metaphysis through to the most distal point of the MMB. Measurements were independently performed by six observers. All observers repeated the measurements 2 weeks after they were first done.ResultsThere were 148 legs from 79 children (48 males and 31 females) with an average age of 28.6 months. The average MMB angle of the Blount group was 128.52° ± 5.38° (P‐value <0.001) and of the control group was 114.45° ± 4.89°. The average femorotibial angle of the Blount group was 15.48° ± 6.81° (P‐value <0.001) and of the control group was 7.71° ± 7.94°. The receiver operating characteristic curve showed that an MMB angle >122° (sensitivity 92.7%; specificity 97.0%) was associated with Langenskiöld stage II. The intraclass correlation coefficient of the intra‐observer reliability ranged from 0.93–0.97, and the inter‐observer reliability was 0.93.ConclusionsBy using anteroposterior (AP) radiographs of the knee, the MMB angle is a potential radiographic parameter to distinguish between Langenskiöld stage II of Blount's disease and physiologic bowed legs, with an MMB angle >122° predicting Langenskiöld stage II.
Catheter ablation of an antidromic atrioventricular reentrant tachycardia using a slow, decrementally conducting accessory pathway in the great cardiac vein
Authors: Emkanjoo Zahra , Madadi Shabnam , Kamali Farzad 
Published: October 2020

AbstractThe inability to ablate left accessory pathways (APs) from endocardial approaches may suggest an epicardial location. We report on a 43‐year‐old woman presenting with a wide QRS tachycardia with Right Bundle Branch Block (RBBB) morphology, right inferior axis, and the “pattern break” appearance in V2 resembled the outflow tract ventricular tachycardia. An electrophysiology study confirmed an antidromic atrioventricular reentrant tachycardia using an antegrade slow, decrementally conducting AP that was successfully ablated in the great cardiac vein‐anterior interventricular vein junction after failure of endocardial approach.
Asthma in farm children is more determined by genetic polymorphisms and in non‐farm children by environmental factors
Authors: Krautenbacher Norbert , Kabesch Michael , Horak Elisabeth , Braun‐Fahrländer Charlotte , Genuneit Jon , Boznanski Andrzej , von Mutius Erika , Theis Fabian , Fuchs Christiane , Ege Markus J. ,   the GABRIELA, PASTURE study groups
Published: September 2020

AbstractBackgroundThe asthma syndrome is influenced by hereditary and environmental factors. With the example of farm exposure, we study whether genetic and environmental factors interact for asthma.MethodsStatistical learning approaches based on penalized regression and decision trees were used to predict asthma in the GABRIELA study with 850 cases (9% farm children) and 857 controls (14% farm children). Single‐nucleotide polymorphisms (SNPs) were selected from a genome‐wide dataset based on a literature search or by statistical selection techniques. Prediction was assessed by receiver operating characteristics (ROC) curves and validated in the PASTURE cohort.ResultsPrediction by family history of asthma and atopy yielded an area under the ROC curve (AUC) of 0.62 [0.57‐0.66] in the random forest machine learning approach. By adding information on demographics (sex and age) and 26 environmental exposure variables, the quality of prediction significantly improved (AUC = 0.65 [0.61‐0.70]). In farm children, however, environmental variables did not improve prediction quality. Rather SNPs related to IL33 and RAD50 contributed significantly to the prediction of asthma (AUC = 0.70 [0.62‐0.78]).ConclusionsAsthma in farm children is more likely predicted by other factors as compared to non‐farm children though in both forms, family history may integrate environmental exposure, genotype and degree of penetrance.
Volatiles from soil‐borne fungi affect directional growth of roots
Authors: Moisan Kay , Raaijmakers Jos M. , Dicke Marcel , Lucas‐Barbosa Dani , Cordovez Viviane 
Published: September 2020

AbstractVolatiles play major roles in mediating ecological interactions between soil (micro)organisms and plants. It is well‐established that microbial volatiles can increase root biomass and lateral root formation. To date, however, it is unknown whether microbial volatiles can affect directional root growth. Here, we present a novel method to study belowground volatile‐mediated interactions. As proof‐of‐concept, we designed a root Y‐tube olfactometer, and tested the effects of volatiles from four different soil‐borne fungi on directional growth of Brassica rapa roots in soil. Subsequently, we compared the fungal volatile organic compounds (VOCs) previously profiled with Gas Chromatography–Mass Spectrometry (GC–MS). Using our newly designed setup, we show that directional root growth in soil is differentially affected by fungal volatiles. Roots grew more frequently toward volatiles from the root pathogen Rhizoctonia solani, whereas volatiles from the other three saprophytic fungi did not impact directional root growth. GC–MS profiling showed that six VOCs were exclusively emitted by R. solani. These findings verify that this novel method is suitable to unravel the intriguing chemical cross‐talk between roots and soil‐borne fungi and its impact on root growth.
Family functioning of single‐parent families with children attending a special needs school in Japan
Authors: Hiratani Yuko , Hohashi Naohiro 
Published: September 2020

AbstractBackgroundSingle‐parent families with disabled children are obliged to take special care of children and shoulder excessive burdens. This study aimed to clarify the family functioning of child‐rearing single‐parent families with children attending special needs schools in Japan.MethodsSemi‐structured interviews were conducted with qualitative content analysis utilized for data analysis.ResultsThe results of the data analysis clarified nine categories: excessive concentration of family functioning on mothers, and adjustments in the family functioning they perform; creation of a family environment friendly to disabled children and their families; satisfaction with family needs by gaining support from the neighborhood and social resources; anxieties related to children's disabilities; promotion of a better understanding of disability; unavoidable reduction in the amount of time shared by the family; efforts to maintain an infrastructure for health care; selection and effective use of a special needs school; and strengthened bonds between families with disabled children.ConclusionsReceiving adequate support from the school is of great assistance in enabling families to maintain their family functioning. This demonstrates that, through the use of the time while the child attends a special needs school, the family can accomplish family functioning, contributing to a fulfilling family life.
A multidisciplinary approach to improving transition readiness in pediatric liver transplant recipients
Authors: Shapiro Jordan M. , Himes Ryan , Khaderi Saira , Economides Julie , El‐Serag Hashem B. 
Published: September 2020

AbstractThe Six Core Elements of Transition have been advocated to guide transition, but little is published about their use with liver transplant patients. We started a liver transplant transition program in August 2015 using quality improvement (QI) methods and by linking the Six Core Elements of Transition to process measures. Eligible patients completed baseline transition readiness assessments (Readiness for Transition Questionnaire, RTQ), interviews with a psychologist, received focused education, and completed follow‐up RTQs before transfer to adult care. Our QI goal was to improve RTQ scores by 20% prior to transfer to adult care. We also assessed continuity of care, tacrolimus levels, rejection, and retransplantation as balancing measures. Of the 24 patients who completed the transition program and were transferred to adult care, RTQ scores were available for 11 patients. Overall RTQ scores improved from 23.7 to 30.5 (+28.7%, P = .009) prior to transfer. Nearly two‐thirds (63%) of patients were seen by adult transplant hepatology within 6 months, and one patient was lost to follow‐up after the first adult visit. Tacrolimus‐level standard deviations were <2.0 in 45% of patients in pediatric care and 72% of patients in adult care. Three patients had undergone immunosuppression withdrawal in pediatric care, with one restarted on immunosuppression prior to transfer to adult care due to late acute rejection. The Six Core Elements of Transition can be translated into patient‐ and system‐level transition milestones to serve as potential quality metrics in the implementation of transition programs.