bluuebunny/crossref_metadata_2025_split huggingface dataset:
Parents’ perception of quality of life in their sons with haemophilia
Authors: Williams Vaughan K , Antoniou Georgia , Jackson Anne , Atkins Andrew 
Published: August 2016

AimQuality of life (QOL) in haemophilia involves both physical and psychological issues. This study was performed to determine parents’ perceptions of the QOL of their sons with haemophilia and compare this to their children's own assessment.MethodsIn this study, we used the Haemo‐QoL questionnaire for haemophilia, to compare the responses of 22 parents to the responses of their children within the age groups 4–7, 8–12 and 13–16 and also for the severity groups mild versus moderate–severe.ResultsIn the 4–7 age group, the children considered their QOL to be less than that estimated by their parents for a number of areas, while in the 8–12 age group the parents considered the QOL for their children to be lower than that estimated by the children themselves. In the 13–16 age group, there was almost universal agreement on QOL between the children and their parents apart from the subscale of school and sport (P = 0.04). Within the severity groupings, there was much more concordance between the parents and children. The only significant difference between parents and children was for physical health in the mild group (P = 0.03). In the moderate–severe groups, no results were significant, however, five of the subscales showed borderline significant (P < 0.1) results.ConclusionsParental perceptions of QOL of their sons changes with the age of the child and the severity of the haemophilia. These perceptions need to be taken into account when developing an overall care strategy involving both the child and parent.
The cost impact of outreach testing and treatment for hepatitis C in an urban Drug Treatment Unit
Authors: Selvapatt Nowlan , Ward Thomas , Harrison Lorna , Lombardini Jody , Thursz Mark , McEwan Phil , Brown Ashley 
Published: August 2016

AbstractBackground & AimsIn developed countries persons who inject drugs (PWID) represents a significant risk for chronic hepatitis C virus (HCV). It is reported that up to half of persons with chronic HCV remain undiagnosed and reliance on attendance to specialist clinics remain a barrier to treatment. This study assesses the feasibility and cost‐effectiveness of outreach screening and treatment within a Drug Treatment Unit (DTU).MethodsAll persons attending a London DTU were offered HCV testing, and where appropriate follow‐up and treatment by a specialist nurse at the DTU. Three years of data informed a cost‐effective‐analysis using a validated Markov model. A hypothetical scenario in which only direct acting antiviral (DAA) treatments were used was also assessed.ResultsOf 321 persons eligible, 216 were screened, 89 were HCV positive and 66 had confirmatory evidence of viraemia. All were infected with either HCV genotype 1 or 3. Treatment was initiated in 29 persons, 22 with interferon based and 7 DAA only regimens. Following initial treatment 21 (72%) achieved SVR12. It is estimated that this programme represents an average per‐patient cost‐saving of £2498 and a quality‐adjusted life year (QALY) gain of 4.10 over a lifetime. In a hypothetical scenario of all oral DAA treatment, an incremental cost per QALY of £1029 was estimated.ConclusionThis study demonstrates feasibility and cost effectiveness of outreach testing and treatment of hepatitis C within comparable DTU settings. Additional costs of newer DAA therapies would not be prohibitive when considering willingness‐to‐pay thresholds commonly used by policy makers.
Association between diabetes mellitus and cirrhosis mortality: the Singapore Chinese Health Study
Authors: Goh George Boon‐Bee , Pan An , Chow Wan‐Cheng , Yuan Jian‐Min , Koh Woon‐Puay 
Published: August 2016

AbstractBackground & AimDiabetes mellitus has been linked to cirrhosis‐related mortality in Western populations, but less is known about this relationship in Asian populations. We studied the impact of diabetes on the risk of cirrhosis mortality in a population‐based cohort among Chinese in Singapore.MethodsWe used data collected and analysed from the Singapore Chinese Health Study, a prospective community‐based cohort of 63 275 subjects aged 45–74 years during enrolment between 1993 and 1998. Information on diet, lifestyle and medical history was collected via structured questionnaire. Mortality cases from cirrhosis in the cohort were identified via linkage with nationwide death registry up to 31 December 2014. Cox proportional regression models were used to estimate the associations with adjustment for risk factors of cirrhosis.ResultsAfter a mean follow‐up of 16.9 years, there were 133 deaths from cirrhosis. Diabetes was associated with an increased risk of cirrhosis mortality (hazard ratio [HR]: 2.80; 95% confidence interval [CI]: 2.04–3.83), and for both viral (HR: 2.20; 95% CI: 1.18–4.11) and non‐viral hepatitis‐related cirrhosis mortality (HR: 3.06; 95% CI: 2.13–4.41). The association between diabetes and non‐viral hepatitis‐related cirrhosis mortality was stronger among participants of body mass index (BMI) less than 23 kg/m2 (HR: 7.11; 95% CI: 3.42–14.79) compared to heavier individuals (HR: 2.28; 95% CI: 1.20–4.35) (Pinteraction=0.02).ConclusionDiabetes is a risk factor for cirrhosis mortality, especially for non‐viral hepatitis‐related cirrhosis in population with BMI considered low or normal in Asia.
Identifying outlier loci in admixed and in continuous populations using ancestral population differentiation statistics
Authors: Martins Helena , Caye Kevin , Luu Keurcien , Blum Michael G. B. , François Olivier 
Published: August 2016

AbstractFinding genetic signatures of local adaptation is of great interest for many population genetic studies. Common approaches to sorting selective loci from their genomic background focus on the extreme values of the fixation index, FST, across loci. However, the computation of the fixation index becomes challenging when the population is genetically continuous, when predefining subpopulations is a difficult task, and in the presence of admixed individuals in the sample. In this study, we present a new method to identify loci under selection based on an extension of the FST statistic to samples with admixed individuals. In our approach, FST values are computed from the ancestry coefficients obtained with ancestry estimation programs. More specifically, we used factor models to estimate FST, and we compared our neutrality tests with those derived from a principal component analysis approach. The performances of the tests were illustrated using simulated data and by re‐analysing genomic data from European lines of the plant species Arabidopsis thaliana and human genomic data from the population reference sample, POPRES.
Effects of everolimus on tuberous sclerosis complex‐associated renal angiomyolipoma: A preliminary report
Authors: Tsai Jeng‐Dau , Wei Chang‐Ching , Yang Sheng‐Hui , Fan Hueng‐Chuen , Hsu Chih‐Chuan , Tung Min‐Che , Tsai Min‐Ling , Sheu Ji‐Nan 
Published: August 2016

ABSTRACTAimTuberous sclerosis complex (TSC) presents with multisystem benign neoplasm induced by dysregulation of the mammalian target of rapamycin pathway. This study aimed to examine the effects of oral everolimus at either 2.5 or 5.0 mg daily on the treatment of TSC‐associated renal angiomyolipoma (AML).MethodsBetween July 2012 and August 2015, patients with TSC‐associated renal AML were selected for everolimus therapy protocol. An oral everolimus starting dose at 2.5 mg was administered daily, and was gradually increased to 5.0 mg daily. All patients were evaluated using magnetic resonance imaging or computed tomography scanning at baseline, 12, 24, and 36 months after the start of treatment for measuring the changes of renal AML mass volume.ResultsEight patients were finally enrolled for analysis in this study. Everolimus treatment had a statistically significant effect on the renal AML volume reduction during follow‐up (P < 0.05). Renal AML mass volume reduction rates were 10.5–45.3% in four patients with everolimus 2.5 mg and 40.7–73.1% in four patients with everolimus 5.0 mg daily; the difference was statistically significant between the two groups (P < 0.05). Longitudinal follow‐up for response to everolimus showed volume reduction rates to be around 10.5–73.1% in the initial 6–24 months after everolimus treatment, which remained stable during follow‐up up to 36 months.ConclusionThe results suggest that an oral everolimus is effective and provides a non‐invasive way to treat TSC‐associated renal AML, and patients are likely to require maintenance therapy to continue to derive benefit.
Study Design and Cohort Description of DEFIB‐WOMEN: A National Danish Study in Patients with an ICD
Authors: PEDERSEN SUSANNE S. , NIELSEN JENS COSEDIS , RIAHI SAM , HAARBO JENS , VidebÆk Regitze , LARSEN MOGENS LYTKEN , SKOV OLE , KNUDSEN CHARLOTTE , JOHANSEN JENS BROCK 
Published: August 2016

BackgroundLittle systematic evidence is available on potential gender differences in patients with an implantable cardioverter defibrillator (ICD) from a real‐world cohort. We designed the DEFIB‐WOMEN (The Utilization of Implantable Cardioverter DEFIBrillator Therapy in the Treatment of Heart Disease: Clinical and Psychological outcomes in WOMEN) study to examine gender differences on (1) patient‐reported outcomes (PROs), (2) procedure‐ and device‐related complications, and (3) ventricular tachyarrhythmia and mortality. This presents the study design and baseline characteristics of the cohort.MethodsDEFIB‐WOMEN is a national, multicenter, prospective, observational study. First‐time implanted patients are asked to complete PROs at several time points. Information on baseline and follow‐up characteristics are captured from patients’ medical records, purpose‐designed questions, and the Danish national registers. The DEFIB‐WOMEN cohort is composed of 1,790 (19% women; 343/1,790) patients implanted between June 2010 and April 2013.ResultsWomen and men differed on several demographic and clinical baseline characteristics, including on the prescription of β‐blockers, statins, angiotensin‐converting enzyme inhibitors, and psychotropic agents. Although women generally had a healthier clinical profile, they reported significantly more symptoms of anxiety and depression and ICD concerns (fear of shock) as compared to men. These differences were not only statistically significant but also clinically relevant, with the magnitude of the differences in anxiety and ICD concerns being 0.44 and 0.42, respectively, as indicated by Cohen's effect size index.ConclusionsThese preliminary results indicate that women with an ICD experience particularly more anxiety and ICD concerns as compared to men at the time of implant. Future results of DEFIB‐WOMEN will show whether these gender differences persist and whether there are also gender differences in complications and survival.
Long‐Term Outcome of Patients with Bifascicular Block and Unexplained Syncope Following Cardiac Pacing
Authors: KALSCHEUR MATTHEW M. , DONATEO PAOLO , WENZKE KEVIN E. , ASTE MILENA , ODDONE DANIELE , SOLANO ALBERTO , MAGGI ROBERTO , CROCI FRANCESCO , PAGE RICHARD L. , BRIGNOLE MICHELE , HAMDAN MOHAMED H. 
Published: August 2016

BackgroundAccording to the ACC/AHA/HRS guidelines, cardiac pacing is reasonable in patients with bifascicular block (BF‐B) and syncope when other causes have been excluded. The purpose of this study was to assess the long‐term outcome of patients with BF‐B and unexplained syncope following cardiac pacing.Methods and ResultsBetween 2009 and 2015, we identified 43 consecutive patients (mean age of 78 ± 12 years, 64% males) who presented with syncope and BF‐B and had received a pacemaker (PM). During a mean follow‐up period of 31 ± 21 months, syncope recurred in seven patients (16%): 7% (95% standard error [SE] ± 3%) at 1 year and 18% (95% SE ± 7%) at 5 years. At univariable analysis, the only predictor of syncope recurrence was empiric pacing (P = 0.03). There were no syncope recurrences in the 12 patients who received a PM following a positive electrophysiological study (EPS) and the five patients with documentation of paroxysmal atrioventricular block (AVB) during cardiac monitoring (insertable loop recorder [ILR]), (EPS/ILR Group, n = 17) compared to seven of 26 (27%) patients who received empiric pacing (Empiric Group, n = 26; P = 0.02). Progression to high‐degree AVB was documented during follow‐up in 16 (37%) patients: nine of 17 (53%) patients in the EPS/ILR Group and seven of 26 (27%) patients in the Empiric Group (P = 0.11). There were no injuries reported during ILR monitoring.ConclusionsWe have shown that syncope recurs not infrequently in patients with BF‐B who received pacing for syncope. Nearly one in four patients who had empiric pacing suffered syncope recurrence compared to no recurrences in patients who received a PM following a positive EPS or documentation of transient AVB.
Relationship between specific IgE to egg components and natural history of egg allergy in Danish children
Authors: Gradman Josefine , Mortz Charlotte G , Eller Esben , Bindslev‐Jensen Carsten 
Published: August 2016

AbstractBackgroundThe majority of egg‐allergic children develop tolerance over time. However, it may take numerous of consecutive egg challenges to get there as no good indices to predict tolerance exist.ObjectiveTo investigate whether serial measurements of specific IgE to egg white, ovomucoid, ovalbumin, conalbumin, lysozyme, and egg yolk could improve the specificity of the diagnostic workup and aid in the decision when to rechallenge egg‐allergic children.MethodsThe outcome of oral food challenges with hen's egg and corresponding specific IgE levels were evaluated in children referred to The Allergy Center within an 8‐year period. The egg‐allergic children were rechallenged and had specific IgE levels measured once a year.ResultsDuring a median follow‐up of 26 months, 287 challenges and corresponding 287 serum analyses were performed in 130 children. Of the 130 children, 99 were egg allergic and 82 of these were rechallenged. Based on the initial diagnostic challenges only, area under the curve (AUC) estimates of the ability of specific IgE titers to distinguish between egg sensitization and egg allergy were only modest (maximum 0.83) and provided no clinical meaningful decision points. Specific IgE levels at baseline did not differ between tolerant and persistent allergic children. However longitudinally, acquisition of tolerance was associated with a decrease in IgE to egg white and to ovomucoid. In all cases of an increase in IgE to ovomucoid, the rechallenge was positive.ConclusionThe decision when to rechallenge egg‐allergic children should encounter the course of specific IgE.
Measuring cardiac output in children undergoing cardiac catheterization: comparison between the Fick method and PRAM (pressure recording analytical method)
Authors: Alonso‐Iñigo José M. , Escribá Francisco J. , Carrasco José I. , Fas María J. , Argente Pilar , Galvis José M. , Llopis José E. 
Published: August 2016

SummaryBackgroundPressure recording analytical method (PRAM) is a novel, arterial pulse contour method for measuring cardiac output (CO). Validation studies of PRAM in children are few, and have shown contradictory results. The aim of the study was to compare the MostCare®‐PRAM vs the Fick method of cardiac output estimation (reference method).MethodsThis is a single‐center, prospective observational study in 52 pediatric patients who underwent diagnostic right and left heart catheterization. Cardiac index (CI) measurements with the MostCare®‐PRAM vs the Fick method were obtained under hemodynamically stable conditions.ResultsForty CI measurements were performed. The data showed good agreement between CIFick and CIPRAM: r2 = 0.90 (P < 0.001), mean bias −0.075, limits of agreement from −0.56 to 0.41. The percentage error was 17%. Comparable results were obtained for patients <20 kg (r2 = 0.87, P < 0.001), mean bias −0.135, limits of agreement from −0.35 to 0.62, percentage of error 17%.ConclusionsIn pediatric patients undergoing diagnostic right and left heart catheterization, the MostCare®‐PRAM was shown to estimate CI with a good level of agreement with the Fick method measurements.
An efficient viral vector for functional genomic studies of Prunus fruit trees and its induced resistance to Plum pox virus via silencing of a host factor gene
Authors: Cui Hongguang , Wang Aiming 
Published: August 2016

SummaryRNA silencing is a powerful technology for molecular characterization of gene functions in plants. A commonly used approach to the induction of RNA silencing is through genetic transformation. A potent alternative is to use a modified viral vector for virus‐induced gene silencing (VIGS) to degrade RNA molecules sharing similar nucleotide sequence. Unfortunately, genomic studies in many allogamous woody perennials such as peach are severely hindered because they have a long juvenile period and are recalcitrant to genetic transformation. Here, we report the development of a viral vector derived from Prunus necrotic ringspot virus (PNRSV), a widespread fruit tree virus that is endemic in all Prunus fruit production countries and regions in the world. We show that the modified PNRSV vector, harbouring the sense‐orientated target gene sequence of 100‐200 bp in length in genomic RNA3, could efficiently trigger the silencing of a transgene or an endogenous gene in the model plant Nicotiana benthamiana. We further demonstrate that the PNRSV‐based vector could be manipulated to silence endogenous genes in peach such as eukaryotic translation initiation factor 4E isoform (eIF(iso)4E), a host factor of many potyviruses including Plum pox virus (PPV). Moreover, the eIF(iso)4E‐knocked down peach plants were resistant to PPV. This work opens a potential avenue for the control of virus diseases in perennial trees via viral vector‐mediated silencing of host factors, and the PNRSV vector may serve as a powerful molecular tool for functional genomic studies of Prunus fruit trees.
mlo‐based powdery mildew resistance in hexaploid bread wheat generated by a non‐transgenic TILLING approach
Authors: Acevedo‐Garcia Johanna , Spencer David , Thieron Hannah , Reinstädler Anja , Hammond‐Kosack Kim , Phillips Andrew L. , Panstruga Ralph 
Published: August 2016

SummaryWheat is one of the most widely grown cereal crops in the world and is an important food grain source for humans. However, wheat yields can be reduced by many abiotic and biotic stress factors, including powdery mildew disease caused by Blumeria graminis f.sp. tritici (Bgt). Generating resistant varieties is thus a major effort in plant breeding. Here, we took advantage of the non‐transgenic Targeting Induced Lesions IN Genomes (TILLING) technology to select partial loss‐of‐function alleles of TaMlo, the orthologue of the barley Mlo (Mildew resistance locus o) gene. Natural and induced loss‐of‐function alleles (mlo) of barley Mlo are known to confer durable broad‐spectrum powdery mildew resistance, typically at the expense of pleiotropic phenotypes such as premature leaf senescence. We identified 16 missense mutations in the three wheat TaMlo homoeologues, TaMlo‐A1, TaMlo‐B1 and TaMlo‐D1 that each lead to single amino acid exchanges. Using transient gene expression assays in barley single cells, we functionally analysed the different missense mutants and identified the most promising candidates affecting powdery mildew susceptibility. By stacking of selected mutant alleles we generated four independent lines with non‐conservative mutations in each of the three TaMlo homoeologues. Homozygous triple mutant lines and surprisingly also some of the homozygous double mutant lines showed enhanced, yet incomplete, Bgt resistance without the occurrence of discernible pleiotropic phenotypes. These lines thus represent an important step towards the production of commercial non‐transgenic, powdery mildew‐resistant bread wheat varieties.
Hydrogen isotopic differences between C3 and C4 land plant lipids: consequences of compartmentation in C4 photosynthetic chemistry and C3 photorespiration
Authors: Zhou Youping , Grice Kliti , Stuart‐Williams Hilary , Hocart Charles H. , Gessler Arthur , Farquhar Graham D. 
Published: August 2016

AbstractThe 2H/1H ratio of carbon‐bound H in biolipids holds potential for probing plant lipid biosynthesis and metabolism. The biochemical mechanism underlying the isotopic differences between lipids from C3 and C4 plants is still poorly understood. GC‐pyrolysis‐IRMS (gas chromatography‐pyrolysis‐isotope ratio mass spectrometry) measurement of the 2H/1H ratio of leaf lipids from controlled and field grown plants indicates that the biochemical isotopic fractionation (ε2Hlipid_biochem) differed between C3 and C4 plants in a pathway‐dependent manner: ε2HC4 > ε2HC3 for the acetogenic pathway, ε2HC4 < ε2HC3 for the mevalonic acid pathway and the 1‐deoxy‐D‐xylulose 5‐phosphate pathway across all species examined. It is proposed that compartmentation of photosynthetic CO2 fixation into C4 mesophyll (M) and bundle sheath (BS) cells and suppression of photorespiration in C4 M and BS cells both result in C4 M chloroplastic pyruvate – the precursor for acetogenic pathway – being more depleted in 2H relative to pyruvate in C3 cells. In addition, compartmentation in C4 plants also results in (i) the transferable H of NADPH being enriched in 2H in C4 M chloroplasts compared with that in C3 chloroplasts for the 1‐deoxy‐D‐xylulose 5‐phosphate pathway pathway and (ii) pyruvate relatively 2H‐enriched being used for the mevalonic acid pathway in the cytosol of BS cells in comparison with that in C3 cells.
Effectiveness of a sleep education program for pediatricians
Authors: Ersu Refika , Boran Perran , Akın Yasemin , Bozaykut Abdülkadir , Ay Pınar , Yazar Ahmet Sami 
Published: August 2016

AbstractBackgroundThe high prevalence of sleep problems in children and long‐term consequences point to the need for early effective interventions, but health‐care providers have limited training in pediatric sleep medicine. The aims of this study were therefore to assess the effectiveness of a sleep health‐care education program and to develop a Turkish acronym for brief sleep history taking for pediatric primary caregivers in the ambulatory setting.MethodsThis was a quasi‐experimental study. Four centers were randomly selected from eight training and research hospitals as the intervention group. The control group was recruited during training in subjects other than sleep. Education was provided to the intervention group. Knowledge and attitudes were evaluated in the short and long term.ResultsThe intervention and the control groups consisted of 132 and 78 pediatricians, respectively. The intervention group scored significantly higher both in the short and the long term. The Turkish acronym (UYKU) was reported to be easy to remember and effective in prompting the correct questions to ask about sleep issues.ConclusionsThe Turkish acronym would be useful in the primary care setting to increase the frequency of screening of sleep problems in children. Although education significantly improved knowledge on sleep issues in children, the percentage of participants who lacked confidence in the management of sleep problems in children was still very high, even in the intervention group. We suggest that a broader educational program, carried out more than once, would be more beneficial.