bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis in rare bleeding disorders—An unresolved issue?
Authors: Tabibian S. , Shams M. , Naderi M. , Dorgalaleh A. 
Published: February 2018

AbstractIntracranial haemorrhage (ICH) is the most dreadful complication, and the main cause of death among patients with rare bleeding disorders (RBD) and prenatal diagnosis (PND) is a preventative lifesaving program. A total of 39 PNDs were reported in the literature through a search on PubMed, EMBASE, SCOPUS and Web of Science databases, most often for congenital factor (F) XIII and FVII deficiencies and rarely in FX, FV deficiencies and afibrinogenemia. The main cause to request a PND is ICH and related morbidity and mortality. Different molecular methods including direct sequencing and linkage analysis as well as polymerase chain reaction‐restriction fragment length polymorphism (PCR‐RFLP) for a specific mutation are the most common used methods for PND, while factor assay and combination of molecular and factor assay also were used. In this research, 7 severely affected foetuses were identified during PND including 3 foetuses with FXIII deficiency, 3 with FVII deficiency and 1 with FX deficiency. Out of these 7 cases, intrauterine ICH occurred in 1 case with FXIII deficiency, 1 was electively aborted and 1 case with severe FVII deficiency received intrauterine factor transfusion. Postdelivery ICH was reported for 1 patient with severe FVII deficiency within the first month of life. All other pregnancies were uneventful.
Influence of PCE kind and dosage on ettringite crystallization performed under terrestrial and microgravity conditions
Authors: Schönlein Markus , Plank Johann 
Published: February 2018

AbstractEarly ettringite crystallization in the presence of 2 chemically different polycarboxylate superplasticizers was studied by hydrating a commercial portland cement (CEM I 52.5 N) for 10 seconds. It was found that the presence of polycarboxylate superplasticizers leads to ettringite crystals which are longer, yet slimmer (higher aspect ratio), compared with the crystals obtained from neat cement paste. This finding suggests that the polycarboxylate (PCE) polymers predominantly adsorb on the lateral faces of the hexagonal‐prismatic crystals of ettringite. For the methacrylate‐based PCE, this effect increases with increasing superplasticizer dosage, whereas for the IPEG‐PCE, the effect achieved at a very low dosage (0.05%) is not altered when dosage increases. The behaviors of both PCE polymers can be explained by their different adsorption behavior, whereby the IPEG‐PCE reached the saturated adsorbed amount at much lower dosage than the MPEG‐PCE. Microgravity only has a minor effect on the growth of ettringite. There, generally smaller crystals are observed.
Treatment of a case of severe insulin resistance as a result of a PIK3R1 mutation with a sodium–glucose cotransporter 2 inhibitor
Authors: Hamaguchi Tetsushi , Hirota Yushi , Takeuchi Takehito , Nakagawa Yasushi , Matsuoka Atsuko , Matsumoto Masaaki , Awano Hiroyuki , Iijima Kazumoto , Cha Pei Chieng , Satake Wataru , Toda Tatsushi , Ogawa Wataru 
Published: February 2018

AbstractA Japanese woman aged in her late 30s with severe insulin resistance and bodily features including a triangular face, prominent forehead, small chin, large and low‐set ears, and ocular depression was investigated. A similar phenotype was not observed in other family members with the exception of her son, suggesting that the condition was caused by a de novo mutation that was transmitted from mother to son. Exome analysis showed the presence in the proband and her son of a c.1945C>T mutation in PIK3R1, a common mutation associated with SHORT (short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay) syndrome. Administration of a sodium–glucose cotransporter 2 inhibitor lowered the proband's hemoglobin A1c level and allowed a reduction in her insulin dose without treatment‐related adverse events including ketoacidosis, exaggerated loss of body mass or hypoglycemia. Sodium–glucose cotransporter 2 inhibitors might thus offer an additional option for the treatment of genetic syndromes of severe insulin resistance.
Cutaneous tuberculosis in China – A multicentre retrospective study of cases diagnosed between 1957 and 2013
Authors: Zhang J. , Fan Y.K. , Wang P. , Chen Q.Q. , Wang G. , Xu A.E. , Chen L.Q. , Hu R. , Chen W. , Song Z.Q. , Hao F. 
Published: February 2018

AbstractBackgroundChina has one of the largest populations with tuberculosis worldwide. Cutaneous tuberculosis (CTB) is a rare manifestation of mycobacterial infection. Although CTB is well described, it is important to periodically revisit the prevailing clinical and epidemiological features in most populated countries such as China, India, and Indonesia, where tuberculosis is still a major health problem.ObjectiveThis retrospective study aimed to re‐evaluate the CTB cases in China in the past 50 years to obtain a comprehensive insight into this multiplex entity.MethodsCases of diagnosed CTB with confirmed histology from four large medical centres in central China between 1957 and 2013 were collected and analysed, including demographic data, clinical manifestations and pathological findings.ResultsOf the 1194 cases enrolled, there were 666 (55.78%) and 528 cases (44.22%) of true CTB and tuberculids, respectively. Erythema induratum of Bazin (EIB) was the most common CTB (35.8%), followed by lupus vulgaris (LV, 32.7%), tuberculosis verrucosa cutis (18.9%), papulonecrotic tuberculid (8.0%), scrofuloderma (2.8%), tuberculosis cutis ulcerosa (1.3%), penile tuberculids (0.4%), and lichen scrofulosorum (0.1%). EIB was the predominant tuberculid (80.87%), while LV the predominant true CTB (58.7%). The number of diagnosed CTB showed a decreasing trend in the 1960s and 1970s, then increased again, and peaked in the 1990s.ConclusionsCutaneous tuberculosis is still a common problem in China. Chronologic changes in CTB cases reported in China over the past 50 years may reflect the prevalence transition of overall tuberculosis. CTB has diverse clinical presentations, and each subtype is characterized by specific gender predilection, duration, age, clinic and pathological findings.
Sectoral Aggregation Error in the Accounting of Energy and Emissions Embodied in Trade and Consumption
Authors: Zhang Da , Caron Justin , Winchester Niven 
Published: February 2018

SummaryCorrectly accounting for the energy and emissions embodied in consumption and trade is essential to effective climate policy design. Robust methods are needed for both policy making and research—for example, the assignment of border carbon adjustments (BCAs) and greenhouse gas emission reduction responsibilities rely on the consistency and accuracy of such estimates. This analysis investigates the potential magnitude and consequences of the error present in estimates of energy and emissions embodied in trade and consumption. To quantify the error of embodied emissions accounting, we compare the results from the disaggregated Global Trade Analysis Project (GTAP 8) data set, which contains 57 sectors to results from different levels of aggregation of this data set (3, 7, 16, and 26 sectors), using 5,000 randomly generated sectoral aggregation schemes as well as aggregations generated using several commonly applied decisions rules. We find that some commonly applied decision rules for sectoral aggregation can produce a large error. We further show that an aggregation scheme that clusters sectors according to their energy, emissions, and trade intensities (net exports over output) can minimize error in embodied energy and emissions accounting at different levels of aggregation. This sectoral aggregation scheme can be readily used in any input‐output analysis and provide useful information for computable general equilibrium modeling exercises in which sector aggregation is necessary, although our findings suggest that, when possible, the most disaggregated data available should be used.
Growth in Environmental Footprints and Environmental Impacts Embodied in Trade: Resource Efficiency Indicators from EXIOBASE3
Authors: Wood Richard , Stadler Konstantin , Simas Moana , Bulavskaya Tatyana , Giljum Stefan , Lutter Stephan , Tukker Arnold 
Published: February 2018

SummaryMost countries show a relative decoupling of economic growth from domestic resource use, implying increased resource efficiency. However, international trade facilitates the exchange of products between regions with disparate resource productivity. Hence, for an understanding of resource efficiency from a consumption perspective that takes into account the impacts in the upstream supply chains, there is a need to assess the environmental pressures embodied in trade. We use EXIOBASE3, a new multiregional input‐output database, to examine the rate of increase in resource efficiency, and investigate the ways in which international trade contributes to the displacement of pressures on the environment from the consumption of a population. We look at the environmental pressures of energy use, greenhouse gas (GHG) emissions, material use, water use, and land use. Material use stands out as the only indicator growing in both absolute and relative terms to population and gross domestic product (GDP), while land use is the only indicator showing absolute decoupling from both references. Energy, GHG, and water use show relative decoupling. As a percentage of total global environmental pressure, we calculate the net impact displaced through trade rising from 23% to 32% for material use (1995–2011), 23% to 26% for water use, 20% to 29% for energy use, 20% to 26% for land use, and 19% to 24% for GHG emissions. The results show a substantial disparity between trade‐related impacts for Organization for Economic Cooperation and Development (OECD) and non‐OECD countries. At the product group level, we observe the most rapid growth in environmental footprints in clothing and footwear. The analysis points to implications for future policies aiming to achieve environmental targets, while fully considering potential displacement effects through international trade.
Direct medical costs associated with the extrahepatic manifestations of hepatitis C infection in Europe
Authors: Cacoub P. , Buggisch P. , Carrión J. A. , Cooke G. S. , Zignego A. L. , Beckerman R. , Younossi Z. 
Published: February 2018

SummaryHepatitis C virus (HCV) infection is a systemic disease associated with both hepatic and extrahepatic manifestations. The burden associated with the hepatic manifestation of HCV infection has been well documented in Europe, although that of HCV extrahepatic manifestations remains unknown. In this study, we estimated the annual direct medical costs associated with HCV extrahepatic manifestations in five European countries. A previously validated economic model was used to estimate the annual direct medical cost associated with HCV extrahepatic manifestations. Global excess prevalence of extrahepatic manifestations in HCV patients relative to that in non‐HCV patients was obtained from a recent meta‐analysis. Per‐patient per‐year inpatient, outpatient and medication costs to treat each extrahepatic manifestation were from the literature, national databases or expert opinion if unavailable otherwise. All costs were adjusted to 2016 euros (€). The overall direct medical costs associated with HCV extrahepatic manifestations were calculated by multiplying the total per‐patient per‐year costs of each by the respective excess prevalence rates and then by the size of the HCV‐infected population in each country. Treatment impact with direct‐acting antivirals (DAAs) was explored using HCV extrahepatic manifestations excess prevalence rates among cured patients compared to untreated HCV patients, as sourced from a meta‐analysis. The total annual direct medical cost associated with HCV extrahepatic manifestations was estimated to be 2.17 billion euro (€), with a per‐HCV‐patient cost ranging from €899 to €1647 annually. DAA treatment was projected to result in cost savings of €316 million per year. We find that the annual economic burden of extrahepatic manifestations is significant and may be partly mitigated by treatment with DAAs.
The evolutionary impact of intragenic FliA promoters in proteobacteria
Authors: Fitzgerald Devon M. , Smith Carol , Lapierre Pascal , Wade Joseph T. 
Published: February 2018

SummaryIn Escherichia coli, one sigma factor recognizes the majority of promoters, and six ‘alternative’ sigma factors recognize specific subsets of promoters. The alternative sigma factor FliA (σ28) recognizes promoters upstream of many flagellar genes. We previously showed that most E. coli FliA binding sites are located inside genes. However, it was unclear whether these intragenic binding sites represent active promoters. Here, we construct and assay transcriptional promoter‐lacZ fusions for all 52 putative FliA promoters previously identified by ChIP‐seq. These experiments, coupled with integrative analysis of published genome‐scale transcriptional datasets, strongly suggest that most intragenic FliA binding sites are active promoters that transcribe highly unstable RNAs. Additionally, we show that widespread intragenic FliA‐dependent transcription may be a conserved phenomenon, but that specific promoters are not themselves conserved. We conclude that intragenic FliA‐dependent promoters and the resulting RNAs are unlikely to have important regulatory functions. Nonetheless, one intragenic FliA promoter is broadly conserved and constrains evolution of the overlapping protein‐coding gene. Thus, our data indicate that intragenic regulatory elements can influence bacterial protein evolution and suggest that the impact of intragenic regulatory sequences on genome evolution should be considered more broadly.
Leadless pacemaker implantation and concurrent atrioventricular junction ablation in patients with atrial fibrillation
Authors: Okabe Toshimasa , El‐Chami Mikhael F. , Lloyd Michael S. , Buck Benjamin , Gornick Charles C. , Moore JoEllyn C. , Augostini Ralph S. , Hummel John D. 
Published: February 2018

AbstractBackgroundAtrioventricular junctional (AVJ) ablation and pacemaker implantation are indicated when pharmacotherapy fails to achieve adequate rate control in atrial fibrillation (AF). The purpose of our study is to assess the feasibility and safety of concurrent Micra leadless transcatheter pacemaker implantation and AVJ ablation.MethodsWe retrospectively assessed patients who underwent Micra implantation and concurrent AVJ ablation at three institutions between August 2014 and March 2016. All patients and devices were followed at baseline and at 1, 3, 6, and 12 months postimplantion.ResultsTwenty‐one patients with permanent AF (median age 77 [range: 62–88], female 15 [71.4%]) underwent successful Micra implantation followed by concurrent AVJ ablation. There was no device dislodgement or malfunction during the 12‐month follow‐up. Complete 12‐month electrical performance data were available in 14 patients (67%). Among patients with the complete data set, median pacing thresholds at implant and at 1, 3, 6, and 12 months were 0.5 V (range: 0.25–0.88), 0.44 V (range: 0.25–2.0), 0.5 V (range: 0.25–1.63), 0.5 V (range: 0.25–1.13), and 0.5 V (range: 0.25–1.13) at a pulse width of 0.24 msec, respectively. Two patients died due to noncardiac causes during follow‐up. There were no patients with major device‐related complications.ConclusionsConcurrent Micra implantation and AVJ ablation is feasible and appears safe. There was no device dislodgement, malfunction, or significant pacing threshold rise requiring device reimplantation during the 12‐month follow‐up. This combined approach can be considered for patients with AF with suboptimal rate control who have failed AF catheter ablation and/or pharmacotherapy.
Subcutaneous ICD screening with the Boston Scientific ZOOM programmer versus a 12‐lead ECG machine
Authors: Chang Shu C. , Patton Kristen K. , Robinson Melissa R. , Poole Jeanne E. , Prutkin Jordan M. 
Published: February 2018

AbstractBackgroundThe subcutaneous implantable cardioverter‐defibrillator (S‐ICD) requires preimplant screening to ensure appropriate sensing and reduce risk of inappropriate shocks. Screening can be performed using either an ICD programmer or a 12‐lead electrocardiogram (ECG) machine. It is unclear whether differences in signal filtering and digital sampling change the screening success rate.MethodsSubjects were recruited if they had a transvenous single‐lead ICD without pacing requirements or were candidates for a new ICD. Screening was performed using both a Boston Scientific ZOOM programmer (Marlborough, MA, USA) and General Electric MAC 5000 ECG machine (Fairfield, CT, USA). A pass was defined as having at least one lead that fit within the screening template in both supine and sitting positions.ResultsA total of 69 subjects were included and 27 sets of ECG leads had differing screening results between the two machines (7%). Of these sets, 22 (81%) passed using the ECG machine but failed using the programmer and five (19%) passed using the ECG machine but failed using the programmer (P < 0.001). Four subjects (6%) passed screening using the ECG machine but failed using the programmer. No subject passed screening with the programmer but failed with the ECG machine.ConclusionThere can be occasional disagreement in S‐ICD patient screening between an ICD programmer and ECG machine, all of whom passed with the ECG machine but failed using the programmer. On a per lead basis, the ECG machine passes more subjects. It is unknown what the inappropriate shock rate would be if an S‐ICD was implanted. Clinical judgment should be used in borderline cases.
Risks and outcomes of direct current cardioversion in children and young adults with congenital heart disease
Authors: Morello Melissa L. , Khoury Philip R. , Knilans Timothy K. , Veldtman Gruschen , Spar David S. , Anderson Jeffery B. , Czosek Richard J. 
Published: February 2018

AbstractObjectivesEvaluate the efficacy, outcomes, and complications associated with direct current cardioversion (DCCV) in the treatment of arrhythmias in pediatric and adult congenital heart disease (CHD) populations and identify patient and procedural characteristics associated with adverse events.BackgroundPediatric and adult patients with CHD are at risk of atrial arrhythmias. DCCV is effective but is associated with potential complications.MethodsIn this single‐center retrospective series, patients who underwent DCCV between January 2010 and May 2015 were identified and categorized as pediatric (<18 years) or adult (> 18 years). Records were reviewed for demographic, arrhythmic, and CHD‐specific characteristics; acute efficacy; and 3‐month arrhythmia recurrence. Complications were categorized as life‐threatening (LT) or non‐life‐threatening (NLT). Univariate followed by multiple variable and logistic regression (LR) analyses were used to identify characteristics associated with complications.ResultsWe identified 104 patients with 152 discrete DCCV events with median age 17.4 years (0.15–62.2). DCCV efficacy was 89% with 3‐month recurrence of 46%. There were 52 complications among 24 patients, median age 17.7 years (0.15–49). Risks associated with NLT complications are as follows: moderate–severe systolic dysfunction (8/152 encounters, P = < 0.01) and more than one shock per DCCV encounter (P = < 0.01). Six of eight encounters with moderate–severe systolic dysfunction were <18 years (P = 0.1). Risks for LT complications included age >18 years and associated NLT complication. Adults had more frequent arrhythmia recurrence within 3 months than children (P = < 0.01).ConclusionsDCCV is effective for arrhythmias but is associated with frequent recurrence, particularly in adult patients. Complications associated with DCCV may be greater than previously reported. Additional support and precautions should be in place for those at greatest risk.
Induction and recovery of copy number variation in banana through gamma irradiation and low‐coverage whole‐genome sequencing
Authors: Datta Sneha , Jankowicz‐Cieslak Joanna , Nielen Stephan , Ingelbrecht Ivan , Till Bradley J. 
Published: February 2018

SummaryTraditional breeding methods are hindered in bananas due to the fact that major cultivars are sterile, parthenocarpic, triploid and thus clonally propagated. This has resulted in a narrow genetic base and limited resilience to biotic and abiotic stresses. Mutagenesis of in vitro propagated bananas is one method to introduce novel alleles and broaden genetic diversity. We previously established a method for the induction and recovery of single nucleotide mutations generated with the chemical mutagen EMS. However, officially released mutant banana varieties have been created using gamma rays, a mutagen that can produce large genomic insertions and deletions (indels). Such dosage mutations may be important for generating observable phenotypes in polyploids. In this study, we establish a low‐coverage whole‐genome sequencing approach in triploid bananas to recover large genomic indels caused by treatment with gamma irradiation. We first evaluated the commercially released mutant cultivar ‘Novaria’ and found that it harbours multiple predicted deletions, ranging from 0.3 to 3.8 million base pairs (Mbp). In total, predicted deletions span 189 coding regions. To evaluate the feasibility of generating and maintaining new mutations, we developed a pipeline for mutagenesis and screening for copy number variation in Cavendish bananas using the cultivar ‘Williams’. Putative mutations were recovered in 70% of lines treated with 20 Gy and 60% of the lines treated with 40 Gy. While deletion events predominate, insertions were identified in 20 Gy‐treated material. Based on these results, we believe this approach can be scaled up to support large breeding projects.
Linkage and association mapping reveals the genetic basis of brown fibre (Gossypium hirsutum)
Authors: Wen Tianwang , Wu Mi , Shen Chao , Gao Bin , Zhu De , Zhang Xianlong , You Chunyuan , Lin Zhongxu 
Published: February 2018

SummaryBrown fibre cotton is an environmental‐friendly resource that plays a key role in the textile industry. However, the fibre quality and yield of natural brown cotton are poor, and fundamental research on brown cotton is relatively scarce. To understand the genetic basis of brown fibre cotton, we constructed linkage and association populations to systematically examine brown fibre accessions. We fine‐mapped the brown fibre region, Lc1, and dissected it into 2 loci, qBF‐A07‐1 and qBF‐A07‐2. The qBF‐A07‐1 locus mediates the initiation of brown fibre production, whereas the shade of the brown fibre is affected by the interaction between qBF‐A07‐1 and qBF‐A07‐2. Gh_A07G2341 and Gh_A07G0100 were identified as candidate genes for qBF‐A07‐1 and qBF‐A07‐2, respectively. Haploid analysis of the signals significantly associated with these two loci showed that most tetraploid modern brown cotton accessions exhibit the introgression signature of Gossypium barbadense. We identified 10 quantitative trait loci (QTLs) for fibre yield and 19 QTLs for fibre quality through a genome‐wide association study (GWAS) and found that qBF‐A07‐2 negatively affects fibre yield and quality through an epistatic interaction with qBF‐A07‐1. This study sheds light on the genetics of fibre colour and lint‐related traits in brown fibre cotton, which will guide the elite cultivars breeding of brown fibre cotton.