bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genotype–phenotype spectrum in isolated and syndromic nanophthalmos
Authors: Lang Elena , Koller Samuel , Atac David , Pfäffli Oliver A. , Hanson James V.M. , Feil Silke , Bähr Luzy , Bahr Angela , Kottke Raimund , Joset Pascal , Fasler Katrin , Barthelmes Daniel , Steindl Katharina , Konrad Daniel , Wille David‐Alexander , Berger Wolfgang , Gerth‐Kahlert Christina 
Published: September 2020

AbstractPurposeTo (i) describe a series of patients with isolated or syndromic nanophthalmos with the underlying genetic causes, including novel pathogenic variants and their functional characterization and (ii) to study the association of retinal dystrophy in patients with MFRP variants, based on a detailed literature review of genotype–phenotype correlations.MethodsPatients with nanophthalmos and available family members received a comprehensive ophthalmological examination. Genetic analysis was based on whole‐exome sequencing and variant calling in core genes including MFRP, BEST1, TMEM98, PRSS56, CRB1, GJA1, C1QTNF5, MYRF and FAM111A. A minigene assay was performed for functional characterization of a splice site variant.ResultsSeven patients, aged between three and 65 years, from five unrelated families were included. Novel pathogenic variants in MFRP (c.497C>T, c.899‐3C>A, c.1180G>A), and PRSS56 (c.1202C>A), and a recurrent de novo variant in FAM111A (c.1706G>A) in a patient with Kenny–Caffey syndrome type 2, were identified. In addition, we report co‐inheritance of MFRP‐related nanophthalmos and ADAR‐related Aicardi–Goutières syndrome.ConclusionNanophthalmos is a genetically heterogeneous condition, and the severity of ocular manifestations appears not to correlate with variants in a specific gene. However, retinal dystrophy is only observed in patients harbouring pathogenic MFRP variants. Furthermore, heterozygous carriers of MFRP and PRSS56 should be screened for the presence of high hyperopia. Identifying nanophthalmos as an isolated condition or as part of a syndrome has implications for counselling and can accelerate the interdisciplinary care of patients.
The corneoscleral shape in Marfan syndrome
Authors: Vanhonsebrouck Eva , Consejo Alejandra , Coucke Paul J. , Leroy Bart P. , Kreps Elke O. 
Published: September 2020

AbstractPurposeTo investigate the corneoscleral shape in Marfan syndrome (MFS) patients.MethodsThirty eyes of 15 participants with molecularly proven MFS were included in this prospective, cross‐sectional study. Optical biometry, Scheimpflug imaging, and corneoscleral topography (Eye Surface Profiler) were performed in all patients. Topographic data were compared to data from controls (25 emmetropes and 17 myopes). The raw three‐dimensional anterior height data from MFS eyes and control eyes were exported for further analysis. Custom‐made software was used to demarcate the limbal radius and to calculate the sagittal height in different concentric annuli centred at the corneal apex, placed in a pupil plane, for the central cornea (0–4 mm radius), peripheral cornea (4–6 mm radius) and sclera (6–8 mm radius) and the corneoscleral asymmetry.ResultsMarfan syndrome (MFS) eyes had significantly lower values of mean sagittal height compared to non‐MFS eyes in all three annuli (central cornea, corneal periphery and sclera (independent t‐test, p < 0.01 except for the inferior area of the scleral radius: p > 0.05). The sclera was significantly more asymmetric in MFS eyes compared to myopes (independent t‐test, p < 0.01 for both eyes), but similar to emmetropes (independent t‐test, p = 0.17 and p = 0.93 for right and left eyes, respectively). In MFS eyes, scleral asymmetry was not found to be correlated with axial length (Pearson correlation coefficient, r < 0.30, p > 0.05).ConclusionThe peripheral cornea and sclera of Marfan syndrome patients have a significantly different shape compared to healthy controls.
The Renminbi as a Trading Currency: Evidence from Selected Countries Participating in the Belt and Road Initiative
Authors: Gao Haihong , Li Yingting 
Published: September 2020

AbstractThis paper investigates the effects of the renminbi (RMB) exchange rate on trade prices and volumes in selected Belt and Road Initiative (BRI) countries in comparison with the effects of the US dollar. The stylized facts show that the RMB is underused in bilateral trade with selected BRI countries where intermediate goods dominate. By estimating the level of exchange rate pass‐through and trade volume elasticity, we find that the RMB is significantly correlated with the volume of imports in the sample countries, predicted by the producer currency pricing (PCP) paradigm. We also regroup intermediate and final goods between China and the BRI countries. The evidence shows that dollar fluctuation affects export volumes, reflecting the role of the US as a final goods destination, whereas the RMB exerts a significant impact on the volume of intermediate goods imported from China to the sample countries due to China's important position in global value chains.
Migration of adult children and quality of life of older parents left‐behind in Nepal
Authors: Thapa Deependra K , Visentin Denis C , Kornhaber Rachel , Cleary Michelle 
Published: September 2020

AimStudies regarding the impact of adult children's migration on older parents left‐behind have focused on physical and mental health. This study assessed the relationship between migration of adult children and quality of life (QOL) of older parents left‐behind in Nepal.MethodsA cross‐sectional community‐based survey was carried out (May–July 2019) among 791 randomly selected older adults aged ≥60 years. QOL was measured using the World Health Organization Quality of Life‐abbreviated scale, and migration status was assessed into three categories: no migration, internal migration only and any international migration. A range of sociodemographic characteristics were measured for adjustment. Associations between migration of children and each domain of the QOL were examined by multilevel mixed regression.ResultsScores for QOL were; 58.8 ± 19.8 for physical, 63.7 ± 18.0 for psychological, 60.7 ± 16.2 for social, and 61.8 ± 15.0 for environmental domains. This study identified positive and null associations between the migration of children and QOL for parents, with higher scores for physical (b = 5.16, P = 0.017) and environmental (b = 3.19, P = 0.046) domains among left‐behind parents whose children migrated internally compared with parents whose children did not migrate.ConclusionsThe findings differ from previous research showing poorer QOL among left‐behind older parents. Migration plays a significant role in shaping physical and environmental QOL among left‐behind parents living in rural areas with important implications for migrants, their families, researchers and social scientists. Geriatr Gerontol Int 2020; 20: 1061–1066..
Cross‐reacting recombinant porcine FVIII inhibitors in patients with acquired haemophilia A
Authors: Bowyer Annette , Shepherd Fiona , Platton Sean , Guy Susan , Kitchen Steve , Maclean Rhona 
Published: September 2020

AbstractIntroductionAcquired haemophilia A (AHA) is a rare bleeding disorder caused by the development of autoantibodies to endogenous human factor VIII (hFVIII). If treatment of bleeding is required, one option is recombinant porcine FVIII (rpFVIII). Cross‐reactivity between factor VIII inhibitors and rpFVIII has previously been described.AimThe aim of this study was to retrospectively assess the incidence of cross‐reacting anti‐porcine inhibitors in patients diagnosed with AHA in two UK centres.MethodsThe plasma of fifty‐one patients diagnosed with AHA via reduced FVIII:C and positive FVIII inhibitor titre as detected with a Nijmegen‐Bethesda assay (NBA) was also tested by a porcine Bethesda assay (PBA). The NBA was modified by replacement of human FVIII with rpFVIII in the PBA, with determination of residual FVIII by one‐stage clotting assay.ResultsThe median FVIII inhibitor titre by NBA was 22.8 BU/mL (range: 0.8‐1000 BU/mL). 37% of samples exhibited linear, type 1 kinetics in the NBA. Negative PBA was observed in 26 patients, and 25 were positive (median PBA: 3.5 BU/mL; range: 0.8‐120 BU/mL). Type 1 kinetics were observed in 40% of PBA‐positive patients. At NBA tires of greater than 100 BU/mL, the positive predictive value for the presence of porcine cross‐reactivity was 100%. At NBA below 5 BU/mL, the negative predictive value for the presence of porcine cross‐reactivity was 71%.ConclusionCross‐reactivity between FVIII inhibitors and rpFVIII was observed in 49% of patients. The presence of inhibitors to rpFVIII may influence the treatment choice for patients with acquired haemophilia A.
Effects of grind size and brew time upon sensory traits, consumer likability and antioxidant activity of Arabica cold brew
Authors: Morresi Angela M. , Truglio Kristin , Specchio John , Kerrihard Adrian L. 
Published: September 2020

SummaryThis study examined effects of grind size (n = 3; 0.65, 1.15, 1.65 mm) and brew time (n = 3; 18, 24, 30 h) on the sensory traits, consumer likability and antioxidant activity of cold brew coffee (brewed at 4 °C). Total dissolved solids were measured to evaluate extraction efficiencies. The finest grind size demonstrated significantly greater antioxidant activity than the other samples, but grind size was not a significant factor for eighteen of the nineteen assessed sensory traits nor for hedonic assessments of appearance, flavour or overall likability. Notably, 24 h brew time samples showed consistently lower magnitudes of sensory traits, hedonic assessments and antioxidant activity than those brewed at 18 or 30 h. This effect was significant in predictive modelling and not explainable by magnitudes of dissolved solids (which increased with brew time). Findings demonstrate substantial nonlinear relationships between processing time and cold brew attributes.
The association between fetal growth and neonatal adiposity in urban South African infants
Authors: Wrottesley Stephanie V. , Prioreschi Alessandra , Norris Shane A. 
Published: September 2020

SummaryObjectiveTo examine associations between maternal body mass index (BMI), gestational weight gain (GWG) and fetal growth and neonatal adiposity in urban South Africans.MethodsMaternal BMI was assessed at recruitment and GWG (kg/week) was calculated. Longitudinal fetal growth was measured via ultrasound and modelled using Superimposition by Translation and Rotation (SITAR). Neonatal adiposity was assessed using air displacement plethysmography or dual‐energy X‐ray absorptiometry. Multiple linear regression models were used to examine associations between maternal BMI, GWG and SITAR fetal growth parameters and neonatal fat mass index (FMI; kg/m3) in 304 mother‐neonate pairs.ResultsIn pooled analyses, longitudinally modelled abdominal circumference size (β = 0.64 kg/m3, P < .001) and velocity (β = 8.39 kg/m3, P < .001) and biparietal diameter velocity (β = 4.55 kg/m3, P = .020) were positively associated with neonatal FMI. GWG was positively associated with neonatal FMI in preliminary models (β = 1.07 kg/m3 per 1 kg/week; P = .040), with pooled models indicating mediation via fetal growth.ConclusionIn utero abdominal growth is predictive of neonatal adiposity. Additionally, greater fetal growth – particularly of the abdominal circumference – mediates the effect of GWG on neonatal adiposity. In settings such as South Africa, strategies to ensure healthy pregnancy weight gain can contribute to prevention of intergenerational obesity risk.
Reversing a relationship spiral: From vicious to virtuous cycles in IT outsourcing
Authors: Akkermans Henk , van Oppen Willem , Vos Bart , X. J. Ou Carol 
Published: September 2020

AbstractIT outsourcing (ITO) remains a popular business practice, but many buyers and suppliers of IT services are caught in a vicious relationship spiral of low trust, bad collaboration and mediocre performance. This paper describes a novel process understanding of how vicious cycles work and suggests a new method for how they can be reversed into virtuous cycles. Based on the action research and complementary system dynamics simulation, this paper demonstrates how an ineffective ITO relationship between a European Harbour Authority and its main IT supplier ITCo was formed and, later, transformed. The method, involving collaborative redesign of service workflows, applied in this action research triggered the reversal of an otherwise downward relationship spiral. Both the empirical facts from the action research data and the system dynamics simulation data are provided as evidence. We conclude the paper with conceptual and methodological contributions as well as scope for future research.
Ultra‐large mode area mid‐infrared fiber based on chalcogenide glasses extrusion
Authors: Zhong Minghui , Liang Xiaolin , Xiao Jing , Wu Guolin , Jiao Kai , Wang Xiange , Xu Tiesong , Liu Jia , Zhao Zheming , Wang Xunsi , Wang Rongping , Zhou Yaxun , Zhang Peiqing , Liu Yongxing , Nie Qiuhua 
Published: September 2020

AbstractWe have prepared an ultra‐large core, high numerical aperture (NA) chalcogenide (ChG) step‐index fiber (SIF) with a mode area of >43 600 μm2at the wavelength of 5.5 μm by an improved extrusion method. The fiber based on two ChG glasses with similar softening temperature has a core diameter of 339.0 μm and ultra‐thin cladding. The fiber exhibits a minimum loss of 1.75 dB/m at 9.74 μm and an optical loss of <5.0 dB/m from 5.3 to 10.8 μm. Broadband supercontinuum (SC) covering from 1.2 μm to 13.7 μm has been generated in a 17‐cm‐long ultra‐large mode area fiber with large core and high NA. All these show that, the fiber possesses the potential for high‐power infrared laser transmission.
Two sides of the same well‐child visit: Analysis of nurses’ and families’ perspectives on empowerment in health counselling
Authors: Borges Rodrigues Sónia , Parisod Heidi , Barros Luísa , Salanterä Sanna 
Published: September 2020

AbstractAimsTo explore the degree of empowering health counselling in well‐child visits, considering nurse and family perspectives and to examine its associated factors.BackgroundEmpowerment has gained high priority in the world health strategy, being claimed for its benefits for people's health and well‐being.DesignThe design includes an exploratory cross‐sectional, correlational study.MethodsWe collected data between January 2018‐October 2019 from a convenience sample of 82 families attending a 5‐year‐old well‐child visit and 25 nurses at Portuguese health centres. Families and nurses assessed the same counselling session using parallel statements of the Portuguese Empowering Speech Practice Scale, grouped in two subscales (nurses’ action and families’ action). Questionnaires also included the Parent's Longitudinal Continuity in Primary Care scale, the Family Nutrition and Physical Activity tool and anthropometric and sociodemographic questions. We employed descriptive statistics, paired‐samples t‐test, analysis of variance and regression analysis.ResultsBoth nurses and families reported that empowerment had been practiced in high degree. The most practiced elements were those from nurses’ action subscale (e.g. constructing a positive atmosphere) and the least practiced were from families’ action (e.g. disclosure). A discrepancy between nurses’ and families’ ratings were found for individualized information and advice, disclosure and asking questions, with families reporting higher scores. Nurses’ formal training in empowerment and obesity was associated with higher scores on the nurses’ action subscale. The families’ limited experience with a regular health centre and nurse and families having children with overweight were both associated with lower scores on the two subscales.ConclusionsAlthough the positive experience by nurses and families is an important finding, the reasons for the differences in perceptions of empowerment require further research.ImpactThe Portuguese Empowering Speech Practice Scale can be a useful tool to evaluate services, both from professionals’ and families’ perspectives and to identify areas of improvement.
Endoplasmic reticulum stress remodels alveolar bone formation after tooth extraction
Authors: Chen Yun , Guo Yue , Li Jun , Chen Ying‐Yi , Liu Qiong , Tan Li , Gao Zheng‐Rong , Zhang Shao‐Hui , Zhou Ying‐Hui , Feng Yun‐Zhi 
Published: September 2020

AbstractBone healing in tooth extraction sockets occurs in a complex environment containing saliva and many microorganisms and is affected by many factors. Endoplasmic reticulum (ER) stress affects bone metabolism, but the role of ER stress in bone healing after tooth extraction remains unclear. We utilized a rat tooth extraction model, in which we promoted wound healing by using salubrinal to regulate the ER stress response. Western blot analysis showed increased expression of p‐eIF2α/eIF2α, Runx2 and alkaline phosphatase (ALP) in bone tissue, and histological assays showed irregularly arranged and new bone with more collagen fibres 14 days after tooth extraction and after modulating the degree of ER stress. Micro‐CT showed that modulating ER stress to an appropriate degree increases bone filling in regards to the density in the bottom and the surrounding bone wall of the tooth extraction wounds. Transmission electron microscopy showed rough ER expansion and newly formed collagen fibrils in osteoblasts after modulating ER stress to an appropriate degree. We also used different concentrations of salubrinal to evaluate the resistance to tunicamycin‐induced ER stress in an osteogenic induction environment. Salubrinal restored the tunicamycin‐induced decrease in the viability of primary calvarial osteoblasts and increased the expression of Runx2 and ALP, and decreased p‐eIF2α/eIF2α in a dose‐dependent manner. Taken together, the results demonstrate that ER stress occurred after tooth extraction, and regulating the degree of ER stress can promote bone healing in tooth extraction sockets, providing clinical evidence for bone healing.
Down‐regulation of exosomal miR‐200c derived from keratinocytes in vitiligo lesions suppresses melanogenesis
Authors: Zhao Chaoshuai , Wang Dongliang , Wang Xin , Mao Yaqi , Xu Ziqian , Sun Yue , Mei Xingyu , Song Jun , Shi Weimin 
Published: September 2020

AbstractVitiligo is a refractory disfiguring skin disease. However, the aetiology and pathogenesis of vitiligo have not been fully defined. Previous studies have shown that exosomes from normal human keratinocytes improve melanogenesis by up‐regulating the expression of melanogenesis‐related proteins. Several microRNAs (miRNAs) have been demonstrated to be effective in modulating melanogenesis via exosomes. In the present study, it was found that the effect of exosomes derived from keratinocytes in vitiligo lesions in regulating melanin synthesis is weakened. Furthermore, miR‐200c was detected to be significantly down‐regulated in exosomes from keratinocytes in vitiligo lesions. In addition, miR‐200c enhanced the expression of melanogenesis‐related genes via suppressing SOX1 to activate β‐catenin. In conclusion, our study revealed that the effect of exosomes secreted by keratinocytes in vitiligo lesions exhibited a weaker capacity in promoting melanogenesis of melanocytes. Moreover, the expression of miR‐200c, which mediates melanogenesis in exosomes secreted by keratinocytes in vitiligo lesions, is down‐regulated, which may be one of the pathogenesis in vitiligo. Therefore, keratinocyte‐derived exosomal miR‐200c may be a potential target for the treatment of vitiligo.
Oral health and changes in lipid profile: A nationwide cohort study
Authors: Song Tae‐Jin , Kim Jin‐Woo , Kim Jinkwon 
Published: September 2020

AbstractAimWe aimed to investigate the association of periodontitis and oral hygiene indicators with changes in blood lipid parameters in a nationwide, population‐based cohort in a longitudinal setting.Materials and methodsWe included nationwide health screening program participants who underwent oral health examination in 2009‐2010 and follow‐up examinations for lipid profile without exposure to lipid‐lowering agents.ResultsDuring the 5.19‐year median follow‐up, 65,078 individuals (mean age at baseline examination: 55.41 ± 7.30 years) underwent 286,218 health examinations. The prevalence of periodontitis was 39%. In the multivariate mixed model analysis, periodontitis and tooth loss were associated with decreased high‐density lipoprotein cholesterol levels (β = −0.0066 mmol/L, standard error = 0.0026, p = .013) and increased triglyceride levels (β=0.0307, mmol/L, standard error = 0.0049, p < .001), respectively. Compared with tooth brushing ≤1 time/day, tooth brushing ≥3 times/day was associated with increased high‐density lipoprotein cholesterol levels (β = 0.0176 mmol/L, standard error = 0.0052, p = .006) and decreased triglyceride levels (β = −0.0285 mmol/L, standard error = 0.0090, p = .001).ConclusionsPeriodontitis and tooth loss may be attenuating factors for blood high‐density lipoprotein cholesterol and triglyceride levels, respectively. Frequent tooth brushing may improve dyslipidaemia, particularly blood high‐density lipoprotein cholesterol and triglyceride levels. Oral hygiene improvement may reduce the risk of dyslipidaemia.
A new species of Characidium Reinhardt (Characiformes: Crenuchidae) from the Río Huallaga, central Peruvian Amazon, with a review of secondary sexual characters in the genus
Authors: Teixeira Tulio F. , Melo Marcelo R. S. 
Published: September 2020

AbstractCharacidium pumarinri n. sp. is described from the affluents of Río Huallaga, a tributary of Río Marañón that drains the eastern slopes of the Andes, in the Peruvian Amazon. The new species has a deep body (24–31% in LS), 11–17 well‐marked dark bars and remarkable sexual dimorphism related to colour pattern, in which males have darker anal, dorsal, pectoral and pelvic fins than females. C. pumarinri resembles some species allocated in Clade C4, mainly by having a high number of transversal bars and a deep body. In addition, a thorough review and further descriptions of the secondary sexual characteristics in Characidium are provided.
Mitochondrial TXN2 attenuates amyloidogenesis via selective inhibition of BACE1 expression
Authors: Li Kun‐Yi , Xiang Xiao‐Jiao , Song Li , Chen Jian , Luo Biao , Wen Qi‐Xin , Zhong Bi‐Rou , Zhou Gui‐Feng , Deng Xiao‐Juan , Ma Yuan‐Lin , Hu Li‐Tian , Chen Guo‐Jun 
Published: September 2020

AbstractThioredoxin‐2 (TXN2) is a mitochondrial protein and represents one of the intrinsic antioxidant enzymes. It has long been recognized that mitochondrial dysfunction and oxidative stress contribute to the pathogenesis of Alzheimer's disease (AD). We hypothesized that mitochondrial TXN2 might play a role in AD‐like pathology. In this study, we found that in SH‐SY5Y and HEK cells stably express full‐length human amyloid‐β precursor protein (HEK‐APP), TXN2 silencing or over‐expression selectively increased or decreased the transcription of beta‐site amyloid precursor protein cleaving enzyme 1 (BACE1), respectively, without altering the protein levels of others enzymes involved in the catalytic processing of APP. As a result, β‐amyloid protein (Aβ) levels were significantly decreased by TXN2. In addition, in cells treated with 3‐nitropropionic acid (3‐NP) that is known to increase reactive oxygen species (ROS) and promote mitochondrial dysfunction, TXN2 silencing resulted in further enhancement of BACE1 protein levels, suggesting a role of TXN2 in ROS removal. The downstream signaling might involve NFκB, as TXN2 reduced the phosphorylation of p65 and IκBα; and p65 knockdown significantly attenuated TXN2‐mediated regulation of BACE1. Concomitantly, the levels of cellular ROS, apoptosis‐related proteins and cell viability were altered by TXN2 silencing or over‐expression. In APPswe/PS1E9 mice, an animal model of AD, the cortical and hippocampal TXN2 protein levels were decreased at 12 months but not at 6 months, suggesting an age‐dependent decline. Collectively, TXN2 regulated BACE1 expression and amyloidogenesis via cellular ROS and NFκB signaling. TXN2 might serve as a potential target especially for early intervention of AD.
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