bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel SLC40A1 p.Y333H mutation with gain of function of ferroportin: A recurrent cause of haemochromatosis in China
Authors: Zhang Wei , Xu Anjian , Li Yanmeng , Zhao Suxian , Zhou Donghu , Wu Lina , Zhang Bei , Zhao Xinyan , Wang Yu , Wang Xiaoming , Duan Weijia , Wang Qianyi , Nan Yuemin , You Hong , Jia Jidong , Ou Xiaojuan , Huang Jian ,   on behalf of China Registry of Genetic/Metabolic Liver Diseases (CR‐GMLD) Group
Published: November 2018

AbstractBackground & AimsHaemochromatosis type 4, also known as ferroportin disease, is an autosomal dominant genetic disorder caused by pathogenic mutations in the SLC40A1 gene, which encodes ferroportin 1 (FPN1). We have identified a novel SLC40A1 p.Y333H mutation in our previous study. In the present study, we tried to investigate the frequency and pathogenicity of the SLC40A1 p.Y333H mutation in haemochromatosis in China.MethodsPatients were analysed for SLC40A1 p.Y333H as well as mutations in the other classic haemochromatosis‐related genes by Sanger sequencing. To analyse iron export capacity of the SLC40A1 p.Y333H mutant, the 293T cells were transfected with the SLC40A1 p.Y333H construct and then treated with hepcidin after exposure to ferric ammonium citrate. Cellular localization of mutant FPN1, expression of FPN1 and intracellular ferritin were analysed by immunofluorescence and Western blotting.ResultsOf 22 unrelated cases with primary iron overload, three cases (3/22, 13.6%) harboured the SLC40A1 p.Y333H, with no missense mutations identified in any other classical haemochromatosis‐related genes including HFE, HJV, HAMP and TFR2. Pedigree analysis showed that three probands and the son of one proband had haemochromatosis of stage 3, while the son of another proband with age of 16 showed elevated transferrin saturation but normal serum ferritin level. In vitro studies showed the mutant p.Y333H ferroportin was resistant to hepcidin, affecting the subsequent internalization and degradation of FPN1, and was associated with ferroportin gain of function.ConclusionsThe SLC40A1 p.Y333H mutation is associated with gain of function of ferroportin, representing one of the major aetiological factors of haemochromatosis in China.
Oxygen isotope signatures in bulk chondrules: Implications for the aqueous alteration and thermal metamorphism on the Allende CV3 parent body
Authors: Jabeen Iffat , Kusakabe Minoru , Nagao Keisuke , Ali Arshad 
Published: November 2018

AbstractPrecise triple oxygen isotope compositions of 32 Allende bulk chondrules (ABCs) are determined using laser‐assisted fluorination mass spectrometry. Various chemically characterized chondrule types show ranges in δ18O that vary from −4.80‰ to +1.10‰ (porphyritic olivine; PO, N = 15), −3.10‰ to +1.50‰ (porphyritic olivine pyroxene; POP, N = 9), −3.40‰ to +2.60‰ (barred olivine; BO, N = 4), and −3.60‰ to +1.30‰ (porphyritic pyroxene; PP, N = 3). Oxygen isotope data of these chondrules yield a regression line referred to as the Allende bulk chondrule line (ABC line, slope = 0.86 ± 0.02). Most of our data fall closer to the primitive chondrule minerals line (PCM line, slope = 0.987 ± 0.013) and the carbonaceous chondrite anhydrous mineral line (CCAM line, slope = 0.94 ± 0.02) than the Allende anhydrous mineral line (AAML, slope = 1.00 ± 0.01) with a maximum δ18O value (+2.60‰) observed in a BO chondrule and a minimum δ18O value (−4.80‰) shown by a PO chondrule. Similarly, these chondrules depict variable ∆17O values that range from −5.65‰ to −3.25‰ (PO), −4.60‰ to −2.80‰ (POP), −4.95‰ to −3.00‰ (BO), −5.30‰ to −3.20‰ (PP), and −4.90‰ (CC). A simple model is proposed for the Allende CV3 chondrite with reference to the AAML and PCM line to illustrate the isotopic variations occurred due to the aqueous alteration processes. The estimated temperature ranging from 10 to 130 °C (mean ~60 °C) implies that the secondary mineralization in Allende happened in a warmer and relatively dry environment compared to Murchison. We further propose that thermal metamorphism could have dehydrated the Allende matrix at temperatures between >150 °C and <600 °C.
The atmospheric entry of fine‐grained micrometeorites: The role of volatile gases in heating and fragmentation
Authors: Suttle M. D. , Genge M. J. , Folco L. , Van Ginneken M. , Lin Q. , Russell S. S. , Najorka J. 
Published: November 2018

AbstractThe early stages of atmospheric entry are investigated in four large (250–950 μm) unmelted micrometeorites (three fine‐grained and one composite), derived from the Transantarctic Mountain micrometeorite collection. These particles have abundant, interconnected, secondary pore spaces which form branching channels and show evidence of enhanced heating along their channel walls. Additionally, a micrometeorite with a double‐walled igneous rim is described, suggesting that some particles undergo volume expansion during entry. This study provides new textural data which links together entry heating processes known to operate inside micrometeoroids, thereby generating a more comprehensive model of their petrographic evolution. Initially, flash heated micrometeorites develop a melt layer on their exterior; this igneous rim migrates inwards. Meanwhile, the particle core is heated by the decomposition of low‐temperature phases and by volatile gas release. Where the igneous rim acts as a seal, gas pressures rise, resulting in the formation of interconnected voids and higher particle porosities. Eventually, the igneous rim is breached and gas exchange with the atmosphere occurs. This mechanism replaces inefficient conductive rim‐to‐core thermal gradients with more efficient particle‐wide heating, driven by convective gas flow. Interconnected voids also increase the likelihood of particle fragmentation during entry and, may therefore explain the rarity of large fine‐grained micrometeorites among collections.
Progress and inequalities in infant and young child feeding practices in India between 2006 and 2016
Authors: Nguyen Phuong Hong , Avula Rasmi , Headey Derek , Tran Lan Mai , Ruel Marie T. , Menon Purnima 
Published: November 2018

AbstractLimited evidence exists on socio‐economic status (SES) inequalities in infant and young child feeding (IYCF) in India. We examine trends and changes in inequalities for IYCF practices over 2006–2016 and identify factors that may explain differences in IYCF across SES groups. We use data from the 2015–2016 and 2005–2006 National Family Health Surveys (n = 112,133 children < 24 months). We constructed SES quintiles (Q) and assessed inequalities using concentration and slope indices. We applied path analyses to examine the relationship between SES inequalities, intermediate determinants, and IYCF. Breastfeeding improved significantly over 2006–2016: from 23% to 42% for early initiation of breastfeeding (EIBF) and 46% to 55% for exclusive breastfeeding (EBF). Minimum dietary diversity (MDD) improved modestly (15% to 21%), but adequate diet did not change (~9%). Large SES gaps (Q5–Q1) were found for EIBF (8–17%) and EBF (−15% to −10%) in 2006; these gaps closed in 2016. The most inequitable practices in 2006 were MDD and iron‐rich foods (Q5 ~ 2–4 times higher than Q1); these gaps narrowed in 2016, but levels are low across SES groups. Factors along the path from SES inequalities to IYCF practices included health and nutrition services, information access, maternal education, number of children < 5 years, and urban/rural residence. The improvements in breastfeeding and narrowing of equity gaps in IYCF practices in India are significant achievements. However, ensuring the health and well‐being of India's large birth cohort will require more efforts to further improve breastfeeding, and concerted actions to address all aspects of complementary feeding across SES quintiles.
Epidemiology of anaemia in children, adolescent girls, and women in Bhutan
Authors: Campbell Rebecca K. , Aguayo Víctor M. , Kang Yunhee , Dzed Laigden , Joshi Vandana , Waid Jillian L. , Gupta Suvadra Datta , Haselow Nancy , West, Keith P. 
Published: November 2018

AbstractAnaemia inhibits health and development in Bhutan. We estimated anaemia prevalence and explored risk factors in children and women using data from Bhutan's National Nutrition Survey 2015. Prevalence was calculated using life‐stage‐specific cut‐offs adjusted for altitude and survey design. Risk factors were evaluated in modified Poisson regressions. Anaemia affected 42%, 29%, 36%, and 28% of children, adolescent girls, and non‐pregnant and pregnant women, respectively. Risk of anaemia was greater in children who were younger (RR 2.0, 95% CI [1.7, 2.3] and RR 1.9, 95% CI [1.6, 2.3], respectively, for 12–23 and 6–11 vs. 24–59 months), male (1.2, 1.1–1.4, ref.: female), and stunted (1.2, 1.0–1.3, ref.: height‐for‐age ≥ −2z). Older (15–19 years) versus younger (10–14 years) adolescents were at higher risk (1.5, 1.2–1.8), as were adolescents living at home versus at school (1.2, 0.9–1.6) and those working versus studying (1.3, 1.0–1.7). Among adult women, anaemia risk increased with age (1.2, 1.0–1.4 and 1.3, 1.1–1.5, for 30–39 and 40–49, respectively, vs. 20–29 years) and was higher for women without schooling (1.1, 1.0–1.3, vs. primary schooling), who were unmarried or separated (1.4, 1.2–1.7 and 1.3, 1.1–1.6, respectively, vs. married), without a child <5 years (1.1, 1.0–1.3), and lacking improved sanitation (1.1, 1.0–1.3). High coverage of antennal iron and folic acid supplementation may contribute to the lower prevalence of anaemia among pregnant women and women with young children. Expansion of iron supplementation programmes, fortification, and other strategies to improve dietary iron intake may reduce the prevalence of anaemia, but causes of anaemia other than iron deficiency (e.g., thalassemias) should also be investigated.
Infant and young child feeding practices and nutritional status in Bhutan
Authors: Campbell Rebecca K. , Aguayo Víctor M. , Kang Yunhee , Dzed Laigden , Joshi Vandana , Waid Jillian , Gupta Suvadra Datta , Haselow Nancy , West, Keith P. 
Published: November 2018

AbstractIn South Asia, childhood undernutrition persists while overweight is increasing. Internationally recommended infant and young child feeding (IYCF) practices promote healthy nutritional status; however, little is known about IYCF in Bhutan, investigated here using 2015 National Nutrition Survey data. WHO/UNICEF IYCF indicators, anthropometry and household socio‐economic status were available for 441 children <24 months. Stunting, wasting, and underweight prevalence (<−2Z length‐for‐age [LAZ], weight‐for‐age, [WAZ] and weight‐for‐length [WLZ], respectively) were 15%, 9%, and 5%, respectively, whereas overweight (WLZ >2) prevalence was 6%. In survey‐design‐adjusted analyses, 52% of mothers of 0‐ to 5‐month olds reported exclusive breastfeeding (EBF), with EBF less common for girls than boys (OR: 0.2 [95% CI: 0.1–0.9]). Although 61% of children were breastfed at 2 years and 75% of children >6 months met a minimum daily meal frequency, only 18% of children 6–23 months met minimum dietary diversity. IYCF was unassociated with risk of stunting, wasting, or underweight, possibly due to relatively low prevalence of anthropometric failure and small sample size. However, currently‐breastfed children were less often overweight [OR: ~0.1 (95% upper limit ≤1.0)]. Neither breastfeeding nor most complementary feeding practices differed by socio‐economic status, but children in the highest two fifth of a wealth index had 7.8 (1.3–46.9) and 5.3 (1.1–25.2) times greater odds than children in the lowest fifth of meeting minimum dietary diversity criteria. Low rates of EBF, given possible protection of breastfeeding against overweight, and inadequate dietary diversity offer evidence to guide future program interventions to improve nutritional status of young children.
Potential limits to the benefits of admixture during biological invasion
Authors: Barker Brittany S. , Cocio Janelle E. , Anderson Samantha R. , Braasch Joseph E. , Cang Feng A. , Gillette Heather D. , Dlugosch Katrina M. 
Published: November 2018

AbstractSpecies introductions often bring together genetically divergent source populations, resulting in genetic admixture. This geographic reshuffling of diversity has the potential to generate favourable new genetic combinations, facilitating the establishment and invasive spread of introduced populations. Observational support for the superior performance of admixed introductions has been mixed, however, and the broad importance of admixture to invasion questioned. Under most underlying mechanisms, admixture's benefits should be expected to increase with greater divergence among and lower genetic diversity within source populations, though these effects have not been quantified in invaders. We experimentally crossed source populations differing in divergence in the invasive plant Centaurea solstitialis. Crosses resulted in many positive (heterotic) interactions, but fitness benefits declined and were ultimately negative at high source divergence, with patterns suggesting cytonuclear epistasis. We explored the literature to assess whether such negative epistatic interactions might be impeding admixture at high source population divergence. Admixed introductions reported for plants came from sources with a wide range of genetic variation, but were disproportionately absent where there was high genetic divergence among native populations. We conclude that while admixture is common in species introductions and often happens under conditions expected to be beneficial to invaders, these conditions may be constrained by predictable negative genetic interactions, potentially explaining conflicting evidence for admixture's benefits to invasion.
Patterns of transposable element variation and clinality in Drosophila
Authors: Adrion Jeffrey R. , Begun David J. , Hahn Matthew W. 
Published: November 2018

AbstractNatural populations often exist in spatially diverse environments and may experience variation in the strength and targets of natural selection across their ranges. Drosophila provides an excellent opportunity to study the effects of spatially varying selection in natural populations, as both Drosophila melanogaster and Drosophila simulans live across a wide range of environments in North America. Here, we characterize patterns of variation in transposable elements (TEs) from six populations of D. melanogaster and nine populations of D. simulans sampled from multiple latitudes across North America. We find a nearly twofold excess of TEs in D. melanogaster relative to D. simulans, with this difference largely driven by TEs segregating at the lowest and highest allele frequencies. We find no effect of latitude on either total TE abundance or average TE allele frequencies in either species. Moreover, we show that, as a class of mutations, the most common patterns of TE variation do not coincide with the sampled latitudinal gradient, nor are they consistent with local adaptation acting on environmental differences found in the most extreme latitudes. We also do not find a cline in ancestry for North American D. melanogaster—for either TEs or single nucleotide polymorphisms—suggesting a limited role for demography in shaping patterns of TE variation. Though we find little evidence for widespread clinality among TEs in Drosophila, this does not necessarily imply a limited role for TEs in adaptation. We discuss the need for improved models of adaptation to large‐scale environmental heterogeneity, and how these might be applied to TEs.
TALE‐carrying bacterial pathogens trap host nuclear import receptors for facilitation of infection of rice
Authors: Hui Shugang , Shi Yarui , Tian Jingjing , Wang Li , Li Yueyue , Wang Shiping , Yuan Meng 
Published: November 2018

SummaryMany plant‐pathogenic Xanthomonas rely on the secretion of virulence transcription activator‐like effector (TALE) proteins into plant cells to activate plant susceptibility genes to cause disease. The process is dependent on the binding of TALEs to specific elements of host target gene promoters in the plant nucleus. However, it is unclear how TALEs, after injection into host cells, are transferred from the plant cytoplasm into the plant nucleus, which is the key step of successful pathogen infection. Here, we show that the host plant cytoplasm/nuclear shuttle proteins OsImpα1a and OsImpα1b are key components for infection by the TALE‐carrying bacterial pathogens Xanthomonas oryzae pv. oryzae (Xoo) and Xanthomonas oryzae pv. oryzicola (Xoc), the causal agents of bacterial leaf blight and bacterial leaf streak, respectively, in rice. Direct interaction between the second nuclear localization signal of TALEs of Xoo or Xoc and OsImpα1a or OsImpα1b is required for the transportation of TALEs into the nucleus. Conversely, suppression of the expression of OsImpα1a and OsImpα1b genes attenuates the shuttling of TALEs from the cytoplasm into the nucleus and the induction of susceptibility genes, thus improving the broad‐spectrum disease resistance of rice to Xoo and Xoc. These results provide an applicable strategy for the improvement of resistance to TALE‐carrying pathogens in rice by moderate suppression of the expression of plant nuclear import receptor proteins.
Predicting risk of pulmonary infection in patients with primary membranous nephropathy on immunosuppressive therapy: The AIM‐7C score
Authors: Wang Tao , Zhang Yan , Ping Fen , Zhao Huizhi , Yan Li , Lin Qiongzhen , Zhang Hui 
Published: November 2018

ABSTRACTAimPulmonary infection (PI) is the leading cause of death in patients with primary membranous nephropathy on immunosuppressive therapy. A rating score was thus developed to foresee the risk of PI in such patients.MethodsWe reviewed the charts of the pertinent patients treated during the past 3 years either with (n = 29) or without PI (n = 304). Clinical and laboratory data, the usage of cyclosporin A (CysA), and occurrence of PI were recorded. Cox regression analysis and receiver operating characteristic (ROC) curve were respectively used to identify the risk factors and assess their clinical relevance.ResultsThe incidence of PI was 8.7% at 82.1 ± 20.9 days after the initiation of CysA regimen with a male predominance superimposed on smoking. Factors associated with PI were immunoglobulin G titer (hazard ratio = 4.56, 95% confidence interval = 2.31–8.95), plasma CysA concentration (3.71, 1.87–6.18), serum creatinine level (2.57, 1.31–5.82), CD4+/CD8+ ratio (2.36, 1.26–6.06) and plasma albumin content (1.53, 1.05–3.25). These five factors, along with the male gender and smoking status, were granted different ratings after examined by the ROC curve and constituted the anticipating pulmonary infection in primary membranous nephropathy receiving CysA (AIM‐7C) score. Accordingly, the respective percent composition of the infection and non‐infection group was 0, 11.1%, 72.2%, 16.7% and 91.7%, 8.3%, 0, 0 in the order of low, moderate, high and utmost risk. Furthermore, eight new cases of PI were successfully predicted.ConclusionOur AIM‐7C score may therefore help to predict the onset and facilitate the prevention of PI, a potentially life‐threatening complication of the immunosuppressive therapy.
Phytophthora urerae sp. nov., a new clade 1c relative of the Irish famine pathogen Phytophthora infestans from South America
Authors: Grünwald N. J. , Forbes G. A. , Perez‐Barrera W. , Stewart J. E. , Fieland V. J. , Larsen M. M. 
Published: November 2018

An unknown Phytophthora species was discovered in the central Peruvian Andes on blighted foliage of the native South American plant species Urera lacineata. Urera is a genus of native flowering shrubs in the nettle family Urticaceae. This new taxon Phytophthora urerae sp. nov. is herewith formally described based on extensive morphological analysis, phylogenetic analysis of nuclear and mitochondrial loci, and AFLP analysis. Phytophthora urerae sp. nov. is a close relative of the Irish famine pathogen, Phytophthora infestans, and only the third clade 1c taxon described from South America to date. In contrast to the clade 1c taxon Phytophthora andina, first described in South America as a hybrid, P. urerae does not appear to be a hybrid based on cloning and sequencing nuclear loci. Findings of new species in South America may provide novel insights into the origin and evolutionary history of clade 1c Phytophthora species.
High‐intensity non‐invasive ventilation in stable hypercapnic COPD: Evidence of efficacy and practical advice
Authors: van der Leest Sietske , Duiverman Marieke L. 
Published: November 2018

ABSTRACTPatients with end‐stage chronic obstructive pulmonary disease (COPD) frequently develop chronic hypercapnic respiratory failure (CHRF), with disabling symptoms and poor survival. The use of long‐term nocturnal non‐invasive ventilation (NIV) to treat CHRF in COPD has long been subject of debate due to conflicting evidence. However, since the introduction of high‐intensity NIV (HI‐NIV) in COPD, physiological and clinical benefits have been shown. HI‐NIV refers to specific ventilator settings used for NIV aimed at achieving normocapnia or the lowest partial arterial carbon dioxide pressure (PaCO2) values as possible. This review will provide an overview of existing evidence of the efficacy of HI‐NIV stable COPD patients with CHRF. Secondly, we will discuss hypotheses underlying NIV benefit in stable hypercapnic COPD, providing insight into better patient selection and hopefully more individually titrated HI‐NIV. Finally, we will provide practical advice on how to initiate and follow‐up patients on HI‐NIV, with special emphasis on monitoring that should be available during the initiation and follow‐up of HI‐NIV, and will discuss more extended monitoring techniques that could improve HI‐NIV treatment in the future.
Public Bureaucracy and Climate Change Adaptation
Authors: Biesbroek Robbert , Peters B. Guy , Tosun Jale 
Published: November 2018

AbstractDespite recognizing the importance of public bureaucracies in governing climate change, our knowledge of how their behavioral and structural characteristics influence climate change adaptation policy is limited. This article provides an introduction to a collection of studies that seeks to explore the link between climate change adaptation and public bureaucracies, and to distill lessons for the scholarship on adaptation as well as the persistent debates on the role of administrative traditions in public policy. The articles in the special issue demonstrate that how state and social actors are organized, the ways in which scientific advice enters bureaucracies, and uniformity in the making and implementing of policy matter for adaptation policy. We conclude that the concept of administrative traditions is still necessary for understanding the choices made by public actors, but contend that other factors such as economic motives and political willingness should be considered more critically in the literature on administrative traditions.